Priority	CHROM	POS	ID	REF	ALT	QUAL	FILTER	GeneName	Description	Func	Gene	GeneDetail	ExonicFunc	AAChange	Gencode	cpgIslandExt	cytoBand	wgRna	targetScanS	tfbsConsSites	genomicSuperDups	Repeat	avsnp	ClinVar	gwasCatalog	1000g_Chinese	1000g_EAS	1000g_ALL	esp6500si_all	GnomAD_ALL_AF	GnomAD_ALL_AN	GnomAD_EAS_AF	GnomAD_EAS_AN	NovoDb_WES	NovoDb_WGS	dbscSNV_SCORE	spidex	Interpro_domain	SIFT	Polyphen2_HVAR	Polyphen2_HDIV	MutationTaster	LRT	MutationAssessor	FATHMM	SiPhy_29way_logOdds	phyloP46way_placental	phyloP100way_vertebrate	CADD	gerp++gt2	MCAP	INFO	FORMAT	AH03	AH06	AH08	AH10	AH02	AH05	AH09	AH04	AH07	Ori_REF	Ori_ALT	shared_hom	shared_het	OMIM	GWAS_Pubmed_pValue	HGMD_Disease_ID	HGMD_Mutation_URL	PubMedID	GO_BP	GO_CC	GO_MF	KEGG_PATHWAY	PID_PATHWAY	BIOCARTA_PATHWAY	REACTOME_PATHWAY	Expression_summary	Expression_Visual_Link	RNA_tissue_category	tissue_with_max_FPKM	Subcellular_Location	Heredity	ACMG
L	1	982735	rs577476031	G	A	222	PASS	AGRN	Agrin	exonic	NM_001305275,NM_198576	.	synonymous SNV	AGRN:NM_198576:exon20:c.G3417A:p.E1139E	ENST00000466223.1,ENST00000620552.4,ENST00000379370.6,ENSG00000188157.14	.	1p36.33	.	.	.	.	.	rs577476031	.	.	0.00166113	0.001	0.000199681	.	0.00001644	243244	0.00023419	17080	.	.	.	0.1057	.	.	.	.	.	.	.	.	.	2.336	1.223	1.020012,10.78	3.16	.	VDB=0.433827;SGB=-0.693147;RPB=0.25355;MQB=2.91755e-10;MQSB=0.2871;BQB=0.119492;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=142;DP4=48,6,48,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:112:255,0,255:54,58	G	A	0	1	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive	.	.	.	10402191|1659950|8653786|12796783|8653788|8653787|16630822|19631309|11349136|11323662|22205389|1326608|1851019|14502292	GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_AMMONIUM_ION;GO_SYNAPSE_ORGANIZATION;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEURON_MATURATION;GO_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_GROWTH;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELL_MATURATION;GO_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_NEURONAL_ION_CHANNEL_CLUSTERING;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GROWTH;GO_RESPONSE_TO_ACETYLCHOLINE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_DEVELOPMENTAL_MATURATION;GO_ISOPRENOID_METABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_RECEPTOR_CLUSTERING;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_EXTRACELLULAR_MATRIX;GO_LYSOSOMAL_LUMEN;GO_BASAL_LAMINA;GO_VACUOLE;GO_GOLGI_APPARATUS_PART;GO_BASEMENT_MEMBRANE;GO_CELL_JUNCTION;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_SYNAPSE;GO_VACUOLAR_LUMEN;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_SULFUR_COMPOUND_BINDING;GO_EXTRACELLULAR_MATRIX_BINDING;GO_CALCIUM_ION_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEOGLYCAN_BINDING;GO_ORGANIC_ACID_BINDING;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BINDING;GO_GLYCOPROTEIN_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_LAMININ_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_METABOLISM_OF_CARBOHYDRATES	Most normal tissues displayed weak to moderate cytoplasmic positivity. Adrenocrtical cells, neuronal cells of cerebral cortex, gall bladder, renal tubules, hepatocytes, duodenum and ducts in salivary gland were strongly stained. Pneumocytes, pancreas, renal glomeruli and prostate were mainly negative.	http://www.proteinatlas.org/ENSG00000188157-AGRN/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 25.7	plasma membrane; cytoplasm	.	PM2
L	1	990355	rs752905025	C	G	209	PASS	AGRN	Agrin	exonic	NM_001305275,NM_198576	.	synonymous SNV	AGRN:NM_198576:exon36:c.C6132G:p.T2044T	ENST00000620552.4,ENST00000379370.6,ENSG00000188157.14,ENST00000461111.1	CpG: 29	1p36.33	.	.	Score=727;Name=V$PAX4_04	.	.	rs752905025	.	.	.	.	.	.	0.00000689	145176	0.00009806	10198	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.523	0.577	.	.	.	VDB=0.288307;SGB=-0.676189;RPB=0.872112;MQB=0.00442304;MQSB=0.969699;BQB=0.50474;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=30;DP4=7,5,6,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:16:.:.	0/0:18:.:.	0/0:30:.:.	0/0:30:.:.	0/0:15:.:.	0/0:10:.:.	0/0:16:.:.	0/0:13:.:.	0/1:23:242,0,255:12,11	C	G	0	1	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive	.	.	.	10402191|1659950|8653786|12796783|8653788|8653787|16630822|19631309|11349136|11323662|22205389|1326608|1851019|14502292	GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_AMMONIUM_ION;GO_SYNAPSE_ORGANIZATION;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEURON_MATURATION;GO_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_GROWTH;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELL_MATURATION;GO_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_NEURONAL_ION_CHANNEL_CLUSTERING;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GROWTH;GO_RESPONSE_TO_ACETYLCHOLINE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_DEVELOPMENTAL_MATURATION;GO_ISOPRENOID_METABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_RECEPTOR_CLUSTERING;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_EXTRACELLULAR_MATRIX;GO_LYSOSOMAL_LUMEN;GO_BASAL_LAMINA;GO_VACUOLE;GO_GOLGI_APPARATUS_PART;GO_BASEMENT_MEMBRANE;GO_CELL_JUNCTION;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_SYNAPSE;GO_VACUOLAR_LUMEN;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_SULFUR_COMPOUND_BINDING;GO_EXTRACELLULAR_MATRIX_BINDING;GO_CALCIUM_ION_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEOGLYCAN_BINDING;GO_ORGANIC_ACID_BINDING;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BINDING;GO_GLYCOPROTEIN_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_LAMININ_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_METABOLISM_OF_CARBOHYDRATES	Most normal tissues displayed weak to moderate cytoplasmic positivity. Adrenocrtical cells, neuronal cells of cerebral cortex, gall bladder, renal tubules, hepatocytes, duodenum and ducts in salivary gland were strongly stained. Pneumocytes, pancreas, renal glomeruli and prostate were mainly negative.	http://www.proteinatlas.org/ENSG00000188157-AGRN/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 25.7	plasma membrane; cytoplasm	.	BP7, PM2
L	1	2322952	.	G	A	222	PASS	MORN1	.	exonic	NM_001301060,NM_024848	.	synonymous SNV	MORN1:NM_001301060:exon1:c.C21T:p.G7G,MORN1:NM_024848:exon1:c.C21T:p.G7G	ENST00000378531.7,ENST00000606372.5,ENSG00000116151.13,ENST00000378525.2,ENST00000378529.7	CpG: 146	1p36.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.182	-0.073	.	.	.	VDB=0.0544402;SGB=-0.692831;RPB=0.164705;MQB=1.75644e-08;MQSB=0.67046;BQB=0.947665;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=93;DP4=28,18,13,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:46,24	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General cytoplasmic expression, high expression in glandular cells and renal tubules.	http://www.proteinatlas.org/ENSG00000116151-MORN1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 9.8	nucleus; mitochondria	.	BP7, PM2
H	1	2527477	rs200441153	C	T	222	PASS	MMEL1	.	exonic	NM_033467	.	missense SNV	MMEL1:NM_033467:exon15:c.G1471A:p.E491K	ENSG00000142606.15,ENST00000504800.5,ENST00000378412.7,ENST00000502556.5	CpG: 20	1p36.32	.	.	Score=830;Name=V$PBX1_02	.	.	rs200441153	.	.	.	.	.	.	0.00008661	277104	0.00100700	18868	0.00272056	0.00176367	.	-0.8299	Metallopeptidase, catalytic domain;Peptidase M13, N-terminal domain	0.167,T	0.426,B	0.907,P	0.999995,N	0.280333,N	1.82,L	-0.97,T	2.8045	-0.890	0.221	2.316330,18.27	.	0.0817348412523	VDB=0.313602;SGB=-0.693147;RPB=0.993642;MQB=3.2423e-14;MQSB=0.805282;BQB=0.797786;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=156;DP4=55,12,38,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:117:255,0,255:67,50	C	T	0	1	.	.	.	.	.	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_METALLOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in a majority of normal cells, most abundant in endothelium.	http://www.proteinatlas.org/ENSG00000142606-MMEL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 2.1	.	.	PM1, PM2
L-	1	9098497	rs12564676	G	A	222	PASS	SLC2A5	Solute carrier family 2 (facilitated glucose transporter), member 5	exonic	NM_001328619,NM_001328620,NM_001328621,NM_003039	.	synonymous SNV	SLC2A5:NM_001328621:exon7:c.C726T:p.L242L,SLC2A5:NM_001328620:exon10:c.C1035T:p.L345L,SLC2A5:NM_003039:exon10:c.C1167T:p.L389L,SLC2A5:NM_001328619:exon11:c.C1167T:p.L389L	ENSG00000142583.17,ENST00000487492.1,ENST00000377424.8	.	1p36.23	.	.	.	.	.	rs12564676	.	.	0	0.001	0.000199681	.	0.00010160	275588	0.00116972	18808	0.00369219	0.00353357	.	-0.3403	.	.	.	.	.	.	.	.	.	-2.448	-2.243	.	.	.	VDB=0.281001;SGB=-0.69312;RPB=0.757052;MQB=6.34069e-11;MQSB=0.767541;BQB=0.961307;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=114;DP4=40,12,22,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:52,32	G	A	0	1	Solute carrier family 2 (facilitated glucose transporter), member 5, 138230	.	.	.	1634504|1550217|1695905|26416735|9691177	GO_CARBOHYDRATE_TRANSPORT;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CARBOHYDRATE_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_CARBOHYDRATE;GO_SYSTEM_PROCESS;GO_MONOSACCHARIDE_TRANSPORT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_IMPORT_INTO_CELL;GO_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_MEDIATED_BY_A_CHEMICAL_SIGNAL	GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_SARCOLEMMA;GO_MEMBRANE_REGION	GO_CARBOHYDRATE_BINDING;GO_MONOSACCHARIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_FACILITATIVE_NA_INDEPENDENT_GLUCOSE_TRANSPORTERS;REACTOME_METABOLISM_OF_CARBOHYDRATES	Expressed in microvilli in cells of gastrointestinal tract and kidney, cell membranes in seminiferus ducts in testis and cytoplasm of a subset of glial cells.	http://www.proteinatlas.org/ENSG00000142583-SLC2A5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 36.5	.	.	BP7, PM2
H-	1	9107723	rs540177172	C	T	222	PASS	SLC2A5	Solute carrier family 2 (facilitated glucose transporter), member 5	exonic	NM_001135585,NM_001328619,NM_001328620,NM_003039	.	missense SNV	SLC2A5:NM_001135585:exon4:c.G364A:p.A122T,SLC2A5:NM_001328620:exon4:c.G232A:p.A78T,SLC2A5:NM_003039:exon4:c.G364A:p.A122T,SLC2A5:NM_001328619:exon5:c.G364A:p.A122T	ENSG00000142583.17,ENST00000479813.5,ENST00000474145.5,ENST00000486632.5,ENST00000464985.5,ENST00000377414.7,ENST00000377424.8,ENST00000487835.5,ENST00000484798.5	.	1p36.23	.	.	.	.	.	rs540177172	.	.	.	.	.	.	0.00003608	277172	0.00047735	18854	0.00038865	.	.	-3.6128	Major facilitator superfamily domain	0.03,D	0.985,D	1.0,D	0.999999,D	0.000005,D	2.75,M	-0.06,T	12.6364	1.220	4.161	6.224442,28.8	4.36	0.259498298112	VDB=0.177135;SGB=-0.693079;RPB=0.571266;MQB=3.60089e-08;MQSB=0.738361;BQB=0.644828;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=15,10,20,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:54:255,0,255:25,29	C	T	0	1	Solute carrier family 2 (facilitated glucose transporter), member 5, 138230	.	.	.	1634504|1550217|1695905|26416735|9691177	GO_CARBOHYDRATE_TRANSPORT;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CARBOHYDRATE_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_CARBOHYDRATE;GO_SYSTEM_PROCESS;GO_MONOSACCHARIDE_TRANSPORT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_IMPORT_INTO_CELL;GO_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_MEDIATED_BY_A_CHEMICAL_SIGNAL	GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_SARCOLEMMA;GO_MEMBRANE_REGION	GO_CARBOHYDRATE_BINDING;GO_MONOSACCHARIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_FACILITATIVE_NA_INDEPENDENT_GLUCOSE_TRANSPORTERS;REACTOME_METABOLISM_OF_CARBOHYDRATES	Expressed in microvilli in cells of gastrointestinal tract and kidney, cell membranes in seminiferus ducts in testis and cytoplasm of a subset of glial cells.	http://www.proteinatlas.org/ENSG00000142583-SLC2A5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 36.5	.	.	PM1, PM2, PP3
H*	1	10435092	.	G	C	222	PASS	KIF1B	Kinesin family member 1B	exonic	NM_015074	.	missense SNV	KIF1B:NM_015074:exon45:c.G5139C:p.Q1713H	ENST00000377081.5,ENST00000263934.10,ENST00000377086.5,ENST00000620295.2,ENST00000622724.3,ENSG00000054523.17,ENST00000635499.1	.	1p36.22	.	.	Score=864;Name=V$OCT1_06	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1196	Pleckstrin homology domain;Pleckstrin homology-like domain	0.04,D	0.264,B	0.729,P	1,D	0.000000,D	2.785,M	2.68,T	12.6663	2.567	8.061	6.211829,28.7	5.47	0.0121854189457	VDB=0.0470458;SGB=-0.693054;RPB=0.997423;MQB=4.88963e-08;MQSB=0.420135;BQB=0.815594;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=11,18,6,22;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/1:57:255,0,255:29,28	G	C	0	1	?Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Autosomal dominant, Isolated cases; Pheochromocytoma, 171300 (3), Autosomal dominant	.	.	.	25802885|8854876|15479732|19503091|7528108|9409358|18334619|11526494|18726616|11389829|15064763	GO_ANTEROGRADE_AXONAL_TRANSPORT;GO_AXO_DENDRITIC_TRANSPORT;GO_CELL_DEATH;GO_CELL_CELL_SIGNALING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE;GO_MICROTUBULE_BASED_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_NEURON_NEURON_SYNAPTIC_TRANSMISSION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_SYNAPTIC_SIGNALING;GO_MICROTUBULE_BASED_MOVEMENT;GO_MITOCHONDRION_LOCALIZATION;GO_NEUROMUSCULAR_SYNAPTIC_TRANSMISSION;GO_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_VESICLE_MEMBRANE;GO_CYTOPLASMIC_REGION;GO_CELL_PROJECTION_CYTOPLASM;GO_NEURON_PART;GO_AXON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_NEURON_PROJECTION;GO_MITOCHONDRION;GO_AXON_CYTOPLASM;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CYTOPLASMIC_VESICLE_PART;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_AXON_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_KINESIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in several different cell types.	http://www.proteinatlas.org/ENSG00000054523-KIF1B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 54.0	nucleoli; cytoplasm	.	PM1, PM2
L	1	10555372	rs144664869	G	A	205	PASS	PEX14	Peroxisome biogenesis factor 14	exonic	NM_004565	.	synonymous SNV	PEX14:NM_004565:exon2:c.G78A:p.E26E	ENST00000491661.2,ENSG00000142655.12,ENST00000356607.8,ENST00000472851.1	.	1p36.22	.	.	.	.	.	rs144664869	Uncertain significance;Zellweger_syndrome;RCV000337115.1;MedGen:OMIM:Orphanet:SNOMED_CT;C0043459:214100:ORPHA912:88469006	.	0.0149502	0.0198	0.00399361	.	0.00167254	276824	0.02340516	18842	0.02759425	0.03080986	.	4.0973	.	.	.	.	.	.	.	.	.	0.588	1.636	1.069960,11.05	.	.	VDB=0.249966;SGB=-0.676189;RPB=0.648517;MQB=0.000797231;MQSB=0.516418;BQB=0.976309;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=35;DP4=7,7,7,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:25:238,0,255:14,11	G	A	0	1	Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive	.	.	.	9094717|9653144|11863372|18285423|15146459|10022913	GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELLULAR_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_PROTEIN_BINDING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_MICROTUBULE_ANCHORING;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PEROXISOME_ORGANIZATION;GO_REGULATION_OF_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_TARGETING;GO_PROTEIN_IMPORT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MICROTUBULE_BASED_PROCESS;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_OLIGOMERIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_DISASSEMBLY;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_NEGATIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_PROTEIN_HOMOOLIGOMERIZATION;GO_PEROXISOMAL_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_LOCALIZATION;GO_PROTEIN_TRANSMEMBRANE_TRANSPORT;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_BINDING;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_PROTEIN_IMPORT_INTO_PEROXISOME_MATRIX;GO_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_MICROBODY_MEMBRANE;GO_MICROBODY;GO_MICROBODY_PART;GO_NUCLEOLUS	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_BETA_TUBULIN_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_PROTEIN_N_TERMINUS_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_PEROXISOME	.	.	.	Ubiquitous cytoplasmic expression in a granular pattern.	http://www.proteinatlas.org/ENSG00000142655-PEX14/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 19.2	vesicles; nucleoli	.	BP7
H	1	11007839	rs370862831	G	A	222	PASS	C1orf127	.	exonic	NM_001170754	.	missense SNV	C1orf127:NM_001170754:exon12:c.C2353T:p.R785W	ENST00000520253.1,ENST00000468348.1,ENST00000418570.6,ENST00000377004.8,ENSG00000175262.14,ENST00000476357.1	.	1p36.22	.	.	.	.	.	rs370862831	.	.	0	.	0.000199681	0.0002	0.00003722	268638	0.00016050	18692	0.00038865	.	.	-0.2646	.	0.002,D	0.436,B	0.996,D	1,N	0.247723,N	0.55,N	1.51,T	11.6413	2.443	0.747	5.687296,26.8	3.87	0.0241642878094	VDB=0.35577;SGB=-0.693145;RPB=0.358578;MQB=5.8008e-13;MQSB=0.99958;BQB=0.945951;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=126;DP4=36,12,32,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:48,41	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues showed moderate to strong cytoplasmic and membranous positivity. Cells of the spleen and muscle cells were in general negative.	http://www.proteinatlas.org/ENSG00000175262-C1orf127/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	stomach: 1.7	.	.	PM2
H	1	11740536	rs373741421	G	T	222	PASS	MAD2L2	Mitotic arrest-deficient 2, S. cerevisiae, homolog-like 2	splicing	NM_001127325,NM_006341	NM_001127325:exon3:c.41-8C>A;NM_006341:exon3:c.41-8C>A	.	.	ENST00000445656.5,ENST00000376672.5,ENST00000376669.9,ENST00000376655.1,ENST00000235310.7,ENST00000376664.10,ENST00000456915.1,ENST00000376692.8,ENST00000376667.7,ENSG00000116670.14	.	1p36.22	.	.	.	.	.	rs373741421	.	.	0.00166113	0.001	0.000199681	.	0.00005451	275198	0.00047872	18800	0.00019440	.	0.0021,0.076	-9.0694	.	.	.	.	.	.	.	.	.	0.251	-0.320	.	.	.	VDB=0.0688733;SGB=-0.693147;RPB=0.472245;MQB=1.08112e-24;MQSB=0.847588;BQB=0.993327;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=270;DP4=73,29,66,38;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:206:255,0,255:102,104	G	T	0	1	?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive	.	.	.	27500492|25799990|10366450|11485998|10527948|25799992	GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_DIVISION;GO_NEGATIVE_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CELL_ADHESION_MEDIATED_BY_CADHERIN;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_LIGASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSTREPLICATION_REPAIR;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_SPINDLE_CHECKPOINT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_GROWTH;GO_NEGATIVE_REGULATION_OF_DNA_BINDING;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_ORGANELLE_FISSION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_DNA_REPAIR;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_TRANSLESION_SYNTHESIS;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_DNA_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_BINDING;GO_DNA_SYNTHESIS_INVOLVED_IN_DNA_REPAIR;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_ERROR_PRONE_TRANSLESION_SYNTHESIS;GO_NEGATIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_BINDING;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_REGULATION_OF_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_REGULATION_OF_SISTER_CHROMATID_SEGREGATION;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_RESULTING_IN_TRANSCRIPTION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_MICROTUBULE_CYTOSKELETON;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_DNA_POLYMERASE_COMPLEX;GO_ANAPHASE_PROMOTING_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_SPINDLE;GO_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX	GO_KINASE_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION	.	.	REACTOME_DNA_REPAIR	Weak to moderate cytoplasmic positivity was observed in most normal tissues. Endothelial cells showed distinct immunoreactivity.	http://www.proteinatlas.org/ENSG00000116670-MAD2L2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 43.8	cytoplasm; nucleoli	.	PM2
H*	1	12414284	rs181981494	A	T	222	PASS	VPS13D	.	splicing	NM_015378,NM_018156	NM_015378:exon47:c.9679+6A>T;NM_018156:exon46:c.9604+6A>T	.	.	ENST00000011700.10,ENST00000620676.4,ENST00000613099.4,ENST00000460333.5,ENSG00000048707.13	.	1p36.22	.	.	.	.	.	rs181981494	.	.	0.0299003	0.0258	0.00539137	0.0002	0.00117879	276554	0.01638910	18854	0.01165954	0.00704225	0.0001,0	0.6725	.	.	.	.	.	.	.	.	.	-0.125	-0.103	.	.	.	VDB=0.516767;SGB=-0.693021;RPB=0.921163;MQB=3.44576e-07;MQSB=0.965035;BQB=0.801602;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=59;DP4=5,16,8,19;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:48:.:.	0/0:50:.:.	0/0:50:.:.	0/1:48:255,0,255:21,27	A	T	0	1	.	.	.	.	.	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_MAINTENANCE_OF_LOCATION;GO_PROTEIN_LOCALIZATION_TO_VACUOLE;GO_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_VACUOLE;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_EXTRINSIC_COMPONENT_OF_MEMBRANE	.	.	.	.	.	Expression in subsets of immune cells.	http://www.proteinatlas.org/ENSG00000048707-VPS13D/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 15.2	.	.	.
L	1	12980169	rs568805488	T	C	222	PASS	PRAMEF7,PRAMEF8	.	exonic	NM_001012276,NM_001012277	.	missense SNV	PRAMEF8:NM_001012276:exon4:c.T1361C:p.V454A,PRAMEF7:NM_001012277:exon4:c.T1361C:p.V454A	ENST00000330881.6_1,ENST00000616979.4,ENSG00000204510.5,ENST00000330881.6,ENST00000616979.4_1	.	1p36.21	.	.	.	Score=0.992124;Name=chr1:13319912	.	rs568805488	.	.	0.00830565	0.006	0.00119808	.	0.00079510	222614	0.01077454	16242	0.00234742	0.00282486	.	.	.	0.267,T	0.002,B	0.001,B	1,N	0.032781,N	1.99,M	0.93,T	2.9234	-0.412	-0.213	.	.	.	VDB=0.147721;SGB=-0.69312;RPB=0.939651;MQB=0.893436;MQSB=0.977861;BQB=0.999918;MQ0F=0;ICB=1;HOB=0.5;MQ=32;DP=88;DP4=17,17,16,16;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:50:.:.	0/0:10:.:.	0/0:50:.:.	0/1:66:255,0,255:34,32	T	C	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	.	GO_HORMONE_RECEPTOR_BINDING;GO_RETINOIC_ACID_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_RECEPTOR_BINDING;GO_HORMONE_RECEPTOR_BINDING;GO_RETINOIC_ACID_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	.	.	.	.	.	.	BP4
M	1	15695946	rs375895904	C	T	222	PASS	FHAD1	.	exonic	NM_052929	.	missense SNV	FHAD1:NM_052929:exon25:c.C3329T:p.T1110I	ENST00000481324.5,ENST00000314668.13,ENST00000444385.5,ENSG00000142621.19,ENST00000529606.5,ENST00000358897.8,ENST00000471347.5,ENST00000375998.8	.	1p36.21	.	.	Score=693;Name=V$BRACH_01	.	.	rs375895904	.	.	0.00664452	0.0079	0.00159744	.	0.00034035	182164	0.00472175	11860	0.00213758	0.00352113	.	0.0322	.	0.73,T	0.001,B	0.0,B	0.999362,N	.	-2.22,N	1.01,T	7.864	0.381	0.595	.	.	.	VDB=0.128355;SGB=-0.692831;RPB=0.920398;MQB=3.77965e-08;MQSB=0.857562;BQB=0.672384;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=181;DP4=39,30,38,23;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:55:31,24	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:75:38,37	C	T	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in ciliated cells.	http://www.proteinatlas.org/ENSG00000142621-FHAD1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 2.8	.	.	BP4
L	1	16580187	rs200270786	C	T	222	PASS	FBXO42	F-box only protein 42	exonic	NM_018994	.	synonymous SNV	FBXO42:NM_018994:exon7:c.G807A:p.A269A	ENST00000375592.7,ENSG00000037637.10	.	1p36.13	.	.	Score=861;Name=V$CEBPB_02	.	.	rs200270786	.	.	.	.	.	.	0.00002165	277142	0.00015898	18870	.	.	.	0.2490	.	.	.	.	.	.	.	.	.	-1.501	-0.160	2.443033,19.10	.	.	VDB=0.561811;SGB=-0.692067;RPB=0.654443;MQB=4.31619e-06;MQSB=0.952284;BQB=0.866805;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=63;DP4=17,13,11,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:50:255,0,255:30,20	C	T	0	1	F-box only protein 42, 609109	.	.	.	15520277|10718198|19509332	.	.	.	.	.	.	.	Mainly cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000037637-FBXO42/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 17.9	nucleus but not nucleoli	.	BP7, PM2
L	1	17272037	rs142404824	G	A	187	PASS	CROCC	Ciliary rootlet coiled-coil protein	exonic	NM_014675	.	missense SNV	CROCC:NM_014675:exon15:c.G2072A:p.R691H	ENST00000486318.1,ENST00000375541.9,ENST00000494191.6,ENST00000445545.6,ENSG00000058453.16,ENST00000492631.5,ENST00000467938.5	.	1p36.13	.	.	.	Score=0.938224;Name=chr1:16945458	.	rs142404824	.	.	.	.	.	.	0.03671319	249774	0.00166852	17980	0.00194401	0.00440141	.	-0.0986	.	0.131,T	0.226,B	0.811,P	1,N	.	0.345,N	2.81,T	4.9211	0.298	-0.033	.	.	.	VDB=0.000488446;SGB=-0.693147;RPB=0.320243;MQB=2.66873e-14;MQSB=0.900858;BQB=0.706011;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=344;DP4=80,118,26,39;MinDP=99;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:99:.:.	0/1:263:221,0,255:198,65	G	A	0	1	Ciliary rootlet coiled-coil protein, 615776	.	.	.	16203858|18042621|9455477|16339073|12427867	GO_CYTOSKELETON_ORGANIZATION;GO_HOMEOSTATIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_PHOTORECEPTOR_CELL_MAINTENANCE;GO_CELL_CYCLE;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_RETINA_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_ACTIN_CYTOSKELETON;GO_NEURON_PART;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_PHOTORECEPTOR_INNER_SEGMENT;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER;GO_CILIUM	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_KINESIN_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Selective expression in ciliary rootlets of ciliated cells in fallopian tube and respiratory epithelium.	http://www.proteinatlas.org/ENSG00000058453-CROCC/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 6.4	centrosome; plasma membrane; cytoplasm; cytoskeleton (actin filaments)	.	BS1
L	1	17280776	rs553198001	G	T	222	PASS	CROCC	Ciliary rootlet coiled-coil protein	exonic	NM_014675	.	missense SNV	CROCC:NM_014675:exon22:c.G3245T:p.R1082L	ENST00000375541.9,ENST00000494191.6,ENST00000445545.6,ENST00000497654.2,ENSG00000058453.16,ENST00000467938.5	.	1p36.13	.	.	.	Score=0.938224;Name=chr1:16945458	.	rs553198001	.	.	0.00332226	0.003	0.000599042	.	0.00008308	276846	0.00116637	18862	0.00070423	0.00088339	.	-0.9245	.	0.231,T	0.066,B	0.15,B	0.959727,N	.	0,N	0.77,T	11.9683	-0.773	0.531	2.326100,18.34	.	0.0226361290238	VDB=0.0163607;SGB=-0.692562;RPB=0.283639;MQB=2.25574e-05;MQSB=0.065758;BQB=0.985537;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=42;DP4=13,0,18,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:10:.:.	0/0:14:.:.	0/0:10:.:.	0/0:30:.:.	0/1:35:255,0,161:13,22	G	T	0	1	Ciliary rootlet coiled-coil protein, 615776	.	.	.	16203858|18042621|9455477|16339073|12427867	GO_CYTOSKELETON_ORGANIZATION;GO_HOMEOSTATIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_PHOTORECEPTOR_CELL_MAINTENANCE;GO_CELL_CYCLE;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_RETINA_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_ACTIN_CYTOSKELETON;GO_NEURON_PART;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_PHOTORECEPTOR_INNER_SEGMENT;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER;GO_CILIUM	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_KINESIN_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Selective expression in ciliary rootlets of ciliated cells in fallopian tube and respiratory epithelium.	http://www.proteinatlas.org/ENSG00000058453-CROCC/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 6.4	centrosome; plasma membrane; cytoplasm; cytoskeleton (actin filaments)	.	BS2
H	1	17326990	rs199661793	C	T	222	PASS	ATP13A2	ATPase, type 13A2	exonic	NM_001141973,NM_001141974,NM_022089	.	missense SNV	ATP13A2:NM_001141973:exon9:c.G730A:p.A244T,ATP13A2:NM_001141974:exon9:c.G730A:p.A244T,ATP13A2:NM_022089:exon9:c.G745A:p.A249T	ENST00000452699.5,ENSG00000226526.1,ENSG00000159363.17,ENST00000446261.1,ENST00000326735.12,ENST00000341676.9,ENST00000463860.5,ENST00000617114.4,ENST00000511957.5,ENST00000508222.5,ENST00000510069.5	.	1p36.13	.	.	Score=735;Name=V$MYOGNF1_01	.	.	rs199661793	.	.	0.00498339	0.003	0.000599042	.	0.00011204	276682	0.00153814	18854	0.00077730	0.00177620	.	0.0223	Cation-transporting P-type ATPase, N-terminal;P-type ATPase, A  domain	0.202,T	0.006,B	0.095,B	0.981332,N	0.778371,N	0.72,N	-2.43,D	9.5799	0.973	0.354	2.650051,20.5	2.25	0.051789493053	VDB=0.0581238;SGB=-0.693147;RPB=0.302331;MQB=2.70243e-12;MQSB=0.98563;BQB=0.977824;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=136;DP4=25,21,22,26;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:52:.:.	0/0:101:.:.	0/1:94:255,0,255:46,48	C	T	0	1	Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive	.	.	.	22388936|495089|23522931|21094623|17485642|28137957|21362476|19182805|22296644|27217339|24603074|19015489|24399444|22768177|16964263|1609844|20853184|20310007|15381061|21724849|24334770|22442086	GO_ION_TRANSPORT;GO_REGULATION_OF_AUTOPHAGY;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_EXOCYTOSIS;GO_HOMEOSTATIC_PROCESS;GO_CATION_TRANSPORT;GO_MACROAUTOPHAGY;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_RESPONSE_TO_METAL_ION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_AUTOPHAGY;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_EXOSOMAL_SECRETION;GO_REGULATION_OF_MITOPHAGY;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_VACUOLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_ION_HOMEOSTASIS;GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_SECRETION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_AUTOPHAGOSOME_ORGANIZATION;GO_RESPONSE_TO_MANGANESE_ION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS	GO_MULTIVESICULAR_BODY;GO_LYSOSOMAL_LUMEN;GO_VESICLE_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_VACUOLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_LATE_ENDOSOME;GO_VACUOLAR_LUMEN;GO_NEURON_PROJECTION;GO_VACUOLAR_PART;GO_CELL_BODY;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_LYTIC_VACUOLE_MEMBRANE;GO_TRANSPORT_VESICLE;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_5_BISPHOSPHATE_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_BISPHOSPHATE_BINDING;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHATIDIC_ACID_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression, most abundant in glandular cells of gastrointestinal tract and neuronal cells of the central nervous system.	http://www.proteinatlas.org/ENSG00000159363-ATP13A2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 32.7	.	.	PM2
L	1	19981699	rs60600249	A	G	222	PASS	NBL1,MINOS1-NBL1	.	splicing	NM_001204084,NM_001204085,NM_001204086,NM_001204088,NM_001204089,NM_001278164,NM_001278165,NM_001278166,NM_005380,NM_182744	NM_001204084:exon2:c.170+6A>G;NM_001204085:exon2:c.170+6A>G;NM_001204086:exon2:c.272+6A>G;NM_001204088:exon3:c.212+6A>G;NM_001204089:exon2:c.170+6A>G;NM_001278164:exon2:c.170+6A>G;NM_001278165:exon2:c.170+6A>G;NM_001278166:exon2:c.170+6A>G;NM_005380:exon2:c.170+6A>G;NM_182744:exon2:c.275+6A>G	.	.	ENST00000375136.7,ENST00000602293.5,ENST00000289749.6,ENST00000602384.5,ENST00000439278.5,ENST00000618761.4,ENSG00000270136.5,ENST00000439664.5,ENST00000602662.1,ENST00000428975.5,ENST00000602450.1,ENSG00000158747.13,ENST00000425400.5,ENST00000621723.4,ENST00000427894.5,ENST00000622566.4,ENST00000548815.2,ENST00000451758.5,ENST00000615215.4	.	1p36.13	.	.	.	.	.	rs60600249	.	.	0.0598007	0.0456	0.0429313	0.0271	0.02364234	262326	0.05111381	18136	0.04644384	0.04770318	0.0001,0.028	2.1272	.	.	.	.	.	.	.	.	.	-0.959	-2.500	.	.	.	VDB=0.293781;SGB=-0.693143;RPB=0.827878;MQB=1.52238e-10;MQSB=0.980002;BQB=0.866583;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=172;DP4=57,20,46,21;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:90:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/1:75:255,0,255:37,38	0/0:50:.:.	0/0:51:.:.	0/1:69:255,0,255:40,29	A	G	0	2	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_CELL_PART_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_SPECIFICATION_OF_SYMMETRY;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_MAINTENANCE_OF_LOCATION;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_EXTRACELLULAR_REGULATION_OF_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_NEUROGENESIS;GO_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PATTERN_SPECIFICATION_PROCESS;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGIONALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_MONOCYTE_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_EXTRACELLULAR_SPACE	GO_CYTOKINE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	.	.	.	.	.	.	BS1
H	1	20499387	rs569196966	G	A	160	PASS	PLA2G2C	.	splicing	NM_001316722	NM_001316722:exon3:c.180-3C>T	.	.	ENST00000247992.5,ENST00000429261.2,ENST00000495760.2,ENSG00000187980.6	.	1p36.12	.	.	.	.	.	rs569196966	.	.	0.00166113	0.001	0.000199681	.	0.00015197	276368	0.00212067	18862	0.00369219	0.00440141	0.2419,0	-2.3380	.	.	.	.	.	.	.	.	.	1.238	1.058	.	3.03	.	VDB=0.0586097;SGB=-0.670168;RPB=0.285883;MQB=0.0148657;MQSB=0.837331;BQB=0.947103;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=27;DP4=2,10,2,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:31:.:.	0/0:11:.:.	0/0:30:.:.	0/1:22:193,0,224:12,10	G	A	0	1	.	.	.	.	.	GO_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	.	GO_CALCIUM_ION_BINDING	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_ETHER_LIPID_METABOLISM;KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM;KEGG_ALPHA_LINOLENIC_ACID_METABOLISM;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_GNRH_SIGNALING_PATHWAY	.	.	.	.	http://www.proteinatlas.org/ENSG00000187980-PLA2G2C/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.1	.	.	PM2
H	1	22202227	rs537872144	C	T	222	PASS	HSPG2	Heparan sulfate proteoglycan of basement membrane (perlecan)	exonic	NM_001291860,NM_005529	.	missense SNV	HSPG2:NM_001291860:exon25:c.G3200A:p.R1067Q,HSPG2:NM_005529:exon25:c.G3197A:p.R1066Q	ENST00000374695.7,ENSG00000142798.17	.	1p36.12	.	.	.	.	.	rs537872144	.	.	0.00166113	0.001	0.000199681	.	0.00041737	270746	0.00578127	18854	0.00563545	0.00530973	.	-0.4409	Laminin B type IV;Laminin B, subgroup	0.11,T	0.998,D	1.0,D	0.99999,D	0.002699,N	2.875,M	1.28,T	16.8974	2.586	5.912	7.121979,34	5.51	0.03329230146	VDB=0.654188;SGB=-0.693147;RPB=0.999811;MQB=2.96246e-15;MQSB=0.950903;BQB=0.863063;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=179;DP4=44,18,55,20;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:137:255,0,255:62,75	C	T	0	1	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive	.	.	.	11941538|10545953|11279527|1686572|8234307|1679749|9030592|1685141|11148217|11101850|17213231|9788974|11038441|16927315|18647752|2249476	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ANGIOGENESIS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_ISOPRENOID_METABOLIC_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_GOLGI_APPARATUS_PART;GO_BASEMENT_MEMBRANE;GO_CELL_JUNCTION;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_CELL_SUBSTRATE_JUNCTION;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_VACUOLAR_LUMEN;GO_EXTRACELLULAR_SPACE;GO_VACUOLAR_PART;GO_ANCHORING_JUNCTION;GO_LYTIC_VACUOLE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_CALCIUM_ION_BINDING;GO_PROTEIN_C_TERMINUS_BINDING	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT;REACTOME_AMYLOIDS	Expression in cardiomyocytes, endothelial cells and a few other cell types. Positivity in extracellular matrix.	http://www.proteinatlas.org/ENSG00000142798-HSPG2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	smooth muscle: 78.1	nucleus but not nucleoli; plasma membrane; cytoplasm	.	PP3
H	1	22211395	rs531029732	C	T	222	PASS	HSPG2	Heparan sulfate proteoglycan of basement membrane (perlecan)	exonic	NM_001291860,NM_005529	.	missense SNV	HSPG2:NM_001291860:exon12:c.G1372A:p.E458K,HSPG2:NM_005529:exon12:c.G1372A:p.E458K	ENST00000374695.7,ENSG00000142798.17	.	1p36.12	.	.	Score=825;Name=V$EGR3_01	.	.	rs531029732	.	.	0	.	0.000199681	.	0.00017334	276908	0.00196162	18862	0.00058298	.	.	-0.4174	Immunoglobulin I-set;Immunoglobulin subtype 2;Immunoglobulin-like domain;Immunoglobulin-like fold	0.112,T	0.018,B	0.075,B	0.998777,D	0.001724,N	1.235,L	1.05,T	11.9717	1.309	2.777	3.788126,23.4	4.56	0.0126500795765	VDB=0.21073;SGB=-0.693147;RPB=0.718186;MQB=7.27147e-21;MQSB=0.868304;BQB=0.876474;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=196;DP4=53,21,52,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:154:255,0,255:74,80	C	T	0	1	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive	.	.	.	11941538|10545953|11279527|1686572|8234307|1679749|9030592|1685141|11148217|11101850|17213231|9788974|11038441|16927315|18647752|2249476	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ANGIOGENESIS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_ISOPRENOID_METABOLIC_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_GOLGI_APPARATUS_PART;GO_BASEMENT_MEMBRANE;GO_CELL_JUNCTION;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_CELL_SUBSTRATE_JUNCTION;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_VACUOLAR_LUMEN;GO_EXTRACELLULAR_SPACE;GO_VACUOLAR_PART;GO_ANCHORING_JUNCTION;GO_LYTIC_VACUOLE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_CALCIUM_ION_BINDING;GO_PROTEIN_C_TERMINUS_BINDING	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT;REACTOME_AMYLOIDS	Expression in cardiomyocytes, endothelial cells and a few other cell types. Positivity in extracellular matrix.	http://www.proteinatlas.org/ENSG00000142798-HSPG2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	smooth muscle: 78.1	nucleus but not nucleoli; plasma membrane; cytoplasm	.	PM2
H	1	23415438	rs34961909	G	A	222	PASS	LUZP1	Leucine zipper protein 1	exonic	NM_001142546,NM_033631	.	missense SNV	LUZP1:NM_001142546:exon4:c.C3181T:p.R1061W,LUZP1:NM_033631:exon5:c.C3181T:p.R1061W	ENST00000418342.5,ENST00000302291.8,ENSG00000169641.13	.	1p36.12	.	.	.	.	.	rs34961909	.	.	0.0365449	0.0337	0.00938498	7.7e-05	0.00332372	276798	0.04092357	18840	0.02739992	0.03257042	.	.	.	0.213,T	0.003,B	0.007,B	1,N	0.194891,N	0.83,L	2.53,T	7.7132	0.613	1.362	2.338927,18.42	3.13	.	VDB=0.119187;SGB=-0.693143;RPB=0.994169;MQB=5.43073e-12;MQSB=0.935182;BQB=0.888322;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=96;DP4=34,2,35,3;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:36,38	G	A	0	1	Leucine zipper protein 1, 601422	.	.	.	8812416	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_ARTERY_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_EMBRYO_DEVELOPMENT;GO_MORPHOGENESIS_OF_AN_EPITHELIAL_FOLD;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_VENTRICULAR_SEPTUM_DEVELOPMENT;GO_TUBE_FORMATION;GO_TUBE_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	.	.	.	.	.	.	Ubiquitous and granular cytoplasmic expression at variable levels. Highest expression in neuronal cells in CNS and in a few glandular epithelia.	http://www.proteinatlas.org/ENSG00000169641-LUZP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 19.6	cytoskeleton (actin filaments); cytoplasm; vesicles	.	BS1
L	1	23664998	rs374260361	G	A	121	PASS	HNRNPR	Heterogeneous nuclear ribonucleoprotein R	exonic	NM_001102398,NM_001297620,NM_005826	.	synonymous SNV	HNRNPR:NM_001102398:exon3:c.C261T:p.D87D,HNRNPR:NM_001297620:exon3:c.C261T:p.D87D,HNRNPR:NM_005826:exon3:c.C261T:p.D87D	ENST00000427764.3,ENST00000463552.5,ENST00000478691.5,ENSG00000125944.18,ENST00000302271.10,ENST00000374616.7,ENST00000490652.1,ENST00000606561.5,ENST00000374612.5	.	1p36.12	.	.	.	.	.	rs374260361	.	.	0.00996678	0.006	0.00139776	7.7e-05	0.00020740	241082	0.00238095	15120	0.00155461	0.00176056	.	-0.0933	.	.	.	.	.	.	.	.	.	1.517	4.075	.	4.73	.	VDB=0.00532739;SGB=-0.686358;RPB=0.964152;MQB=0.000248918;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=35;DP4=16,0,14,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/1:30:154,0,192:16,14	G	A	0	1	Heterogeneous nuclear ribonucleoprotein R, 607201	.	.	.	20167579|9421497|11574476|11773003	GO_CIRCADIAN_RHYTHM;GO_REGULATION_OF_MRNA_METABOLIC_PROCESS;GO_REGULATION_OF_RNA_STABILITY;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MRNA_CATABOLIC_PROCESS;GO_MRNA_PROCESSING;GO_POSITIVE_REGULATION_OF_MRNA_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_RNA_DESTABILIZATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RHYTHMIC_PROCESS;GO_MRNA_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RNA_SPLICING	GO_NEURON_PROJECTION_TERMINUS;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_AXON;GO_NEURON_PROJECTION;GO_CATALYTIC_STEP_2_SPLICEOSOME;GO_SPLICEOSOMAL_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_ENDOPLASMIC_RETICULUM;GO_AXON_PART;GO_DENDRITE	GO_MRNA_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_MRNA_3_UTR_BINDING	.	.	.	REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000125944-HNRNPR/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 74.6	nucleus but not nucleoli	.	.
L	1	24019245	rs80133698	C	T	222	PASS	RPL11	Ribosomal protein L11	exonic	NM_000975,NM_001199802	.	synonymous SNV	RPL11:NM_000975:exon2:c.C153T:p.S51S,RPL11:NM_001199802:exon2:c.C150T:p.S50S	ENST00000467075.1,ENSG00000142676.12,ENST00000458455.1,ENST00000374550.7,ENST00000482370.1,ENST00000443624.5	.	1p36.11	.	.	Score=906;Name=V$AREB6_02	.	.	rs80133698	Likely benign;Diamond-Blackfan_anemia;RCV000290243.1;MedGen:Orphanet:SNOMED_CT;C1260899:ORPHA124:88854002	.	0.00664452	0.006	0.00119808	.	0.00061711	277100	0.00832361	18862	0.00427517	0.00088028	.	0.0253	.	.	.	.	.	.	.	.	.	0.424	1.078	1.769879,14.81	2.91	.	VDB=0.00200061;SGB=-0.692717;RPB=0.662139;MQB=5.48581e-06;MQSB=0.955918;BQB=0.995697;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=8,17,7,16;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:48:255,0,255:25,23	C	T	0	1	Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant	.	.	.	20960466|16803902|19287375|19061985|23718193|10343117|9582194|7748210|21804542	GO_RIBOSOME_BIOGENESIS;GO_CELLULAR_CATABOLIC_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_TRANSLATIONAL_INITIATION;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM;GO_RRNA_METABOLIC_PROCESS;GO_RIBOSOME_ASSEMBLY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_RNA_PROCESSING;GO_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM;GO_PEPTIDE_METABOLIC_PROCESS;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_NCRNA_PROCESSING;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_VIRAL_LIFE_CYCLE;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_MULTI_ORGANISM_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MRNA_METABOLIC_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RNA_CATABOLIC_PROCESS;GO_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_CATABOLIC_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_LARGE_RIBOSOMAL_SUBUNIT;GO_RIBOSOME;GO_CYTOSOLIC_PART;GO_CYTOSOLIC_LARGE_RIBOSOMAL_SUBUNIT;GO_RIBOSOMAL_SUBUNIT;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_CYTOSOLIC_RIBOSOME	GO_STRUCTURAL_CONSTITUENT_OF_RIBOSOME;GO_RRNA_BINDING;GO_POLY_A_RNA_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_RNA_BINDING	KEGG_RIBOSOME	PID_MYC_ACTIV_PATHWAY;PID_P53_REGULATION_PATHWAY	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	Most normal tissues displayed moderate cytoplasmic immunoreactivity. A few glandular epithelia showed additional membranous staining. Hepatocytes displayed nuclear positivity.	http://www.proteinatlas.org/ENSG00000142676-RPL11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 3259.8	.	.	BP6
L	1	26608852	rs61775089	G	A	63	PASS	UBXN11	UBX domain protein 11	exonic	NM_001077262,NM_145345,NM_183008	.	missense SNV	UBXN11:NM_001077262:exon11:c.C1141T:p.P381S,UBXN11:NM_145345:exon15:c.C1402T:p.P468S,UBXN11:NM_183008:exon16:c.C1501T:p.P501S	ENST00000475591.5,ENST00000374221.7,ENST00000494942.5,ENST00000357089.8,ENST00000496466.1,ENST00000314675.11,ENST00000374222.5,ENST00000374217.6,ENSG00000158062.20,ENST00000374223.5,ENST00000472155.5	.	1p36.11	.	.	.	.	Score=369;Name="56373:(CTGGGG)n(Simple_repeat)"	rs61775089	.	.	.	.	.	.	0.00363707	133624	0.00330882	10880	0.16653028	0.04761905	.	.	UBX domain;Ubiquitin-related domain	0.0,D	.	.	1,P	.	0.805,L	1.7,T	.	0.000	-0.536	1.499902,13.31	.	0.0130444039285	VDB=0.000120397;SGB=-0.662043;RPB=0.00187538;MQB=0.105937;MQSB=0.0482852;BQB=0.462348;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=43;DP4=21,6,9,0;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:23:.:.	0/0:30:.:.	0/0:30:.:.	0/0:17:.:.	0/0:16:.:.	0/0:18:.:.	0/0:11:.:.	0/0:15:.:.	0/1:36:97,0,255:27,9	G	A	0	1	UBX domain protein 11, 609151	.	.	.	11940653	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_CATABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_CYTOSKELETON	GO_UBIQUITIN_LIKE_PROTEIN_BINDING	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Cilia in fallopian tube and respiratory epithelial cells as well as cells in exocrine pancreas and parts of the cells in duodenum were strongly stained. Lymphoid tissues and cells in CNS were generally negative.	http://www.proteinatlas.org/ENSG00000158062-UBXN11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 32.7	nucleoli; cytoplasm	.	BS1, PM1
H	1	26670650	rs199784730	T	TTCC	222	PASS	CRYBG2	.	exonic	NM_001039775	.	nonframeshift insertion	CRYBG2:NM_001039775:exon2:c.2498_2499insGGA:p.E833delinsEE	ENST00000374207.4,ENST00000308182.9,ENSG00000176092.14	.	1p36.11	.	.	.	.	.	rs199784730	.	.	0.00166113	0.001	0.00419329	.	0.00677813	154910	0.00168470	11278	0.00077730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.502003,10.97	.	.	INDEL;VDB=0.0114146;SGB=-0.693147;MQSB=0.943165;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=291;DP4=63,48,65,54;IDV=119;IMF=0.408935;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:136:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:230:255,0,255:111,118	T	TTCC	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic and nuclear expression at variable levels in most tissues.	http://www.proteinatlas.org/ENSG00000176092-AIM1L/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 7.6	nucleus but not nucleoli	.	PM4
M	1	26688623	.	G	A	222	PASS	ZNF683	Zinc finger protein 683	exonic	NM_001307925	.	missense SNV	ZNF683:NM_001307925:exon6:c.C1187T:p.A396V	ENST00000403843.5,ENST00000349618.7,ENSG00000176083.17,ENST00000436292.5	.	1p36.11	.	.	.	.	.	.	.	.	.	.	.	.	0.00002201	272658	0.00032141	18668	0.00038865	.	.	.	Zinc finger C2H2-type/integrase DNA-binding domain	0.126,T	0.008,B	0.036,B	1,N	0.947722,N	0.55,N	3.08,T	6.3826	-0.072	0.693	.	.	0.00640149731687	VDB=0.0862221;SGB=-0.693146;RPB=0.439924;MQB=1.89705e-15;MQSB=0.958587;BQB=0.443868;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=139;DP4=36,22,23,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/1:100:255,0,255:58,42	G	A	0	1	Zinc finger protein 683, 616775	.	.	.	26440905|20921622|27102484|26179882	GO_LEUKOCYTE_ACTIVATION;GO_NATURAL_KILLER_CELL_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_LYMPHOCYTE_ACTIVATION;GO_NATURAL_KILLER_CELL_ACTIVATION;GO_LYMPHOCYTE_DIFFERENTIATION	.	.	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000176083-ZNF683/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	salivary gland: 5.0	.	.	BP4, PM1, PM2
L	1	28476798	rs144798109	G	A	222	PASS	PTAFR	Platelet-activating factor receptor	exonic	NM_000952,NM_001164721,NM_001164722,NM_001164723	.	synonymous SNV	PTAFR:NM_000952:exon2:c.C735T:p.F245F,PTAFR:NM_001164722:exon2:c.C735T:p.F245F,PTAFR:NM_001164721:exon3:c.C735T:p.F245F,PTAFR:NM_001164723:exon3:c.C735T:p.F245F	ENST00000373857.7,ENST00000305392.3,ENSG00000169403.11,ENST00000539896.1	.	1p35.3	.	.	.	.	.	rs144798109	.	.	0.00166113	0.001	0.00119808	0.0009	0.00079118	275538	0.00551256	18866	0.00077730	0.00088028	.	.	.	.	.	.	.	.	.	.	.	-1.850	-0.026	.	.	.	VDB=0.00536189;SGB=-0.693147;RPB=0.281184;MQB=0.00202804;MQSB=0.723434;BQB=0.823627;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=143;DP4=44,18,34,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:83:.:.	0/0:100:.:.	0/0:61:.:.	0/0:72:.:.	0/0:77:.:.	0/1:114:255,0,255:62,52	G	A	0	1	Platelet-activating factor receptor, 173393	.	.	.	8383507|8978777|7566121|1374385|11309383|11861812|1657923|1322356|1656963	GO_REGULATION_OF_CELL_ACTIVATION;GO_G_PROTEIN_COUPLED_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_RESPONSE_TO_AMMONIUM_ION;GO_G_PROTEIN_COUPLED_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_REGULATION_OF_BLOOD_PRESSURE;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_CIRCULATORY_SYSTEM_PROCESS;GO_REGULATION_OF_VASODILATION;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_RESPONSE_TO_CORTICOSTEROID;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DEGRANULATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_INOSITOL_PHOSPHATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_POLYOL_METABOLIC_PROCESS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_EXOCYTOSIS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_GRAVITY;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_VASODILATION;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TAXIS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_VASOCONSTRICTION;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_RESPONSE_TO_BACTERIUM;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_CAMP;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CELLULAR_RESPONSE_TO_CAMP;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_INNATE_IMMUNE_RESPONSE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_PARTURITION;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_REGULATION_OF_INOSITOL_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_REGULATION_OF_SENSORY_PERCEPTION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_INTERFERON_GAMMA_MEDIATED_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ANION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_FATTY_ACID;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_BLOOD_PRESSURE;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_LIPOPOLYSACCHARIDE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_VASOCONSTRICTION;GO_CELLULAR_RESPONSE_TO_FATTY_ACID;GO_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_LIPASE_ACTIVITY;GO_RESPONSE_TO_DEXAMETHASONE;GO_REGULATION_OF_CELL_ADHESION;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_INTERLEUKIN_6_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_LEUKOCYTE_DEGRANULATION;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_REPRODUCTION;GO_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_SECRETION;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_ANION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_TRANSCYTOSIS;GO_POSITIVE_REGULATION_OF_MYELOID_LEUKOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_PROLIFERATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POLYOL_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_ANION_TRANSPORT;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_KINASE_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_LIPOPOLYSACCHARIDE_BINDING;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_SIGNALING_PATTERN_RECOGNITION_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Most of the normal tissues displayed weak to moderate cytoplasmic positivity with a granular pattern. Strong staining was observed in the gastrointestinal tract, gall bladder and renal tubules. Bile duct cells, pancreas, placenta and lymphoid cells were generally negative.	http://www.proteinatlas.org/ENSG00000169403-PTAFR/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	appendix: 28.0	vesicles; nucleus but not nucleoli; plasma membrane	.	BP7
L	1	31349489	rs202017266	G	A	222	PASS	SDC3	Syndecan 3	exonic	NM_014654	.	synonymous SNV	SDC3:NM_014654:exon3:c.C780T:p.P260P	ENSG00000162512.15,ENST00000339394.6,ENST00000336798.11	.	1p35.2	.	.	.	.	.	rs202017266	.	.	0.00664452	0.0069	0.00139776	.	0.00058909	254628	0.00823595	17970	0.00408084	0.00177620	.	0.0215	.	.	.	.	.	.	.	.	.	0.036	0.561	.	.	.	VDB=0.0208659;SGB=-0.693079;RPB=0.939328;MQB=9.65155e-06;MQSB=0.997911;BQB=0.475881;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=172;DP4=52,3,62,7;MinDP=31;AN=18;AC=2	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:50:255,0,255:21,29	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:34,40	G	A	0	2	{Obesity, association with}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial	.	.	.	12530973|1556152|15371336|18040049|17018662|11461706|7959737|15520868	GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_CELL_MOTILITY;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_BIOLOGICAL_ADHESION	GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_NEURON_PART;GO_AXON;GO_GOLGI_APPARATUS_PART;GO_VACUOLAR_LUMEN;GO_NEURON_PROJECTION;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	KEGG_ECM_RECEPTOR_INTERACTION;KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_SYNDECAN_3_PATHWAY	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES	Cytoplasmic expression in many cell types, variable intensity levels.	http://www.proteinatlas.org/ENSG00000162512-SDC3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 72.3	mitochondria; nucleus but not nucleoli	.	BP7
L	1	34006180	rs1532308	C	T	222	PASS	CSMD2	Cub and Sushi multiple domains 2	exonic	NM_001281956,NM_052896	.	synonymous SNV	CSMD2:NM_052896:exon59:c.G9144A:p.A3048A,CSMD2:NM_001281956:exon60:c.G9576A:p.A3192A	ENSG00000121904.17,ENST00000619121.4,ENST00000373388.6,ENST00000241312.8,ENST00000373381.8	.	1p35.1	.	.	.	.	.	rs1532308	.	.	0.00332226	0.002	0.00678914	0.0088	0.00267430	274838	0.00222576	18870	0.00116595	0.00176056	.	-2.1469	.	.	.	.	.	.	.	.	.	-0.560	-2.028	2.673792,20.7	.	.	VDB=0.00932929;SGB=-0.693147;RPB=0.508049;MQB=2.85319e-18;MQSB=0.728793;BQB=0.717473;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=167;DP4=56,15,40,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:125:255,0,255:71,54	C	T	0	1	Cub and Sushi multiple domains 2, 608398	.	.	.	12906867|11572484	.	.	.	.	.	.	.	Most normal tissues displayed moderate cytoplasmic positivity. Membranous positivity was observed a few cases, including the intestine. A fraction of cells in prostate were strongly stained. Plasma and extra cellular material were distinctly stained. The liver, pancreas and most cells in CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000121904-CSMD2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.4	nucleus but not nucleoli; cytoplasm	.	BP7
H	1	35944780	rs144951042	T	C	222	PASS	KIAA0319L	KIAA0319-like	exonic	NM_024874	.	missense SNV	KIAA0319L:NM_024874:exon4:c.A700G:p.T234A	ENST00000431916.5,ENST00000469892.5,ENST00000440579.5,ENST00000478463.6,ENST00000482929.6,ENST00000325722.7,ENST00000492888.1,ENST00000470388.5,ENSG00000142687.17,ENST00000426982.6	.	1p34.3	.	.	.	.	.	rs144951042	.	.	0.00332226	0.0089	0.00199681	.	0.00078339	277000	0.00896837	18844	0.00816168	0.00792254	.	-0.0897	.	0.0,D	0.273,B	0.773,P	0.978306,D	0.000303,D	1.4,L	0.92,T	7.5499	2.146	0.763	.	4.53	0.00500000977732	VDB=0.0077823;SGB=-0.689466;RPB=0.0568369;MQB=1.82592e-05;MQSB=0.574735;BQB=0.991189;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=49;DP4=12,10,6,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:34:.:.	0/1:38:255,0,255:22,16	T	C	0	1	KIAA0319-like, 613535	.	.	.	19085271|11347906|26814968|23831424|20697954	.	GO_GOLGI_APPARATUS_PART;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	.	.	.	.	.	Subsets of bone marrow poietic cells were disinctly stained while squamous epithelia and the gastrointestinal tract showed moderate cytoplasmic staining. The fallopian tube and airway epithelium showed staining in luminal membranes. Remaining normal tissues were in generally weakly stained or negative.	http://www.proteinatlas.org/ENSG00000142687-KIAA0319L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 38.5	golgi apparatus; nucleoli	.	.
L*	1	36226304	rs200267861	C	T	222	PASS	CLSPN	.	exonic	NM_001190481,NM_001330490,NM_022111	.	synonymous SNV	CLSPN:NM_001190481:exon8:c.G1218A:p.E406E,CLSPN:NM_001330490:exon8:c.G1218A:p.E406E,CLSPN:NM_022111:exon8:c.G1218A:p.E406E	ENST00000520551.1,ENST00000251195.9,ENST00000373220.7,ENSG00000092853.13,ENST00000318121.7	.	1p34.3	.	.	.	.	.	rs200267861	.	.	0.00332226	0.003	0.000599042	.	0.00030674	277110	0.00386898	18868	0.00330354	0.00264085	.	0.2206	.	.	.	.	.	.	.	.	.	0.688	-0.640	.	3.65	.	VDB=0.61017;SGB=-0.692976;RPB=0.964936;MQB=2.4385e-06;MQSB=0.731277;BQB=0.333998;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=19,14,13,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:48:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:59:255,0,255:33,26	C	T	0	1	.	.	.	.	.	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_PEPTIDYL_SERINE_MODIFICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_CELL_DEATH;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_MITOTIC_G2_M_TRANSITION_CHECKPOINT;GO_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_DNA_REPAIR;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_CYCLE;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_DNA_REPLICATION_CHECKPOINT;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_DNA_INTEGRITY_CHECKPOINT;GO_G2_DNA_DAMAGE_CHECKPOINT;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_EXECUTION_PHASE_OF_APOPTOSIS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_PHOSPHORYLATION;GO_CELLULAR_COMPONENT_DISASSEMBLY_INVOLVED_IN_EXECUTION_PHASE_OF_APOPTOSIS;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS	.	GO_PROTEIN_COMPLEX_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_ATR_PATHWAY;PID_PLK1_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000092853-CLSPN/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 5.5	nucleus but not nucleoli; cytoplasm	.	PM2
L	1	36788100	rs550387297	G	C	222	PASS	EVA1B	.	exonic	NM_001304762,NM_018166	.	synonymous SNV	EVA1B:NM_001304762:exon3:c.C294G:p.P98P,EVA1B:NM_018166:exon3:c.C294G:p.P98P	ENSG00000214193.10,ENST00000480549.5,ENST00000270824.1,ENST00000474766.1,ENSG00000142694.6,ENST00000490466.1	CpG: 219	1p34.3	.	.	.	.	.	rs550387297	.	.	0.0149502	0.0119	0.00239617	.	0.00149526	251462	0.02035042	18378	0.01904392	0.00970018	.	.	.	.	.	.	.	.	.	.	.	0.127	-1.709	1.226220,11.88	.	.	VDB=0.137102;SGB=-0.693145;RPB=0.165497;MQB=2.5291e-15;MQSB=0.996509;BQB=0.370213;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=267;DP4=78,32,56,25;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:107:255,0,255:66,41	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:44,40	G	C	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000142694-EVA1B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 9.7	cytoplasm	.	BP7
L	1	37337879	rs141315852	C	T	222	PASS	GRIK3	Glutamate receptor, ionotropic, kainate 3	exonic	NM_000831	.	synonymous SNV	GRIK3:NM_000831:exon4:c.G642A:p.S214S	ENST00000373093.4,ENSG00000163873.9,ENST00000373091.7	.	1p34.3	.	.	Score=924;Name=V$BACH2_01	.	.	rs141315852	.	.	0	.	0.000399361	0.0002	0.00002856	245056	.	.	.	.	.	-0.1040	.	.	.	.	.	.	.	.	.	-1.805	-8.742	2.404400,18.85	.	.	VDB=0.155084;SGB=-0.693147;RPB=0.381201;MQB=2.67713e-18;MQSB=0.996597;BQB=0.999891;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=181;DP4=45,20,52,22;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:139:255,0,255:65,74	C	T	0	1	Glutamate receptor, ionotropic, kainate 3, 138243	.	.	.	8128318	GO_ION_TRANSPORT;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_G_PROTEIN_COUPLED_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_IONOTROPIC_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY;GO_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_TRANSMEMBRANE_TRANSPORT;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_NEURON_PROJECTION_TERMINUS;GO_CYTOPLASMIC_REGION;GO_CELL_PROJECTION_CYTOPLASM;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POSTSYNAPSE;GO_AXON;GO_CELL_JUNCTION;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE_CYTOPLASM;GO_PERIKARYON;GO_MEMBRANE_REGION;GO_AXON_PART;GO_TERMINAL_BOUTON;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMITTER_GATED_CHANNEL_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_GLUTAMATE_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_NEUROTRANSMITTER_RECEPTOR_ACTIVITY;GO_EXCITATORY_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_EXTRACELLULAR_GLUTAMATE_GATED_ION_CHANNEL_ACTIVITY;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_IONOTROPIC_ACTIVITY_OF_KAINATE_RECEPTORS	Expression in CNS.	http://www.proteinatlas.org/ENSG00000163873-GRIK3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 1.6	.	.	BP7, PM2
L	1	40981218	rs199542973	A	C	222	PASS	EXO5	.	exonic	NM_001346946,NM_001346947,NM_001346948,NM_001346949,NM_001346950,NM_001346951,NM_001346952,NM_001346953,NM_001346954,NM_001346955,NM_001346956,NM_022774	.	synonymous SNV	EXO5:NM_001346948:exon2:c.A1002C:p.G334G,EXO5:NM_001346954:exon2:c.A1002C:p.G334G,EXO5:NM_001346956:exon2:c.A1002C:p.G334G,EXO5:NM_001346946:exon3:c.A1002C:p.G334G,EXO5:NM_001346951:exon3:c.A1002C:p.G334G,EXO5:NM_001346952:exon3:c.A1002C:p.G334G,EXO5:NM_001346955:exon3:c.A1002C:p.G334G,EXO5:NM_022774:exon3:c.A1002C:p.G334G,EXO5:NM_001346947:exon4:c.A1002C:p.G334G,EXO5:NM_001346949:exon4:c.A1002C:p.G334G,EXO5:NM_001346950:exon4:c.A1002C:p.G334G,EXO5:NM_001346953:exon4:c.A1002C:p.G334G	ENST00000358527.6,ENST00000296380.8,ENST00000372703.1,ENSG00000164002.11	.	1p34.2	.	.	Score=799;Name=V$XBP1_01	.	.	rs199542973	.	.	0.00166113	0.004	0.000798722	.	0.00009750	276910	0.00137931	18850	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-0.343	-0.803	.	.	.	VDB=0.0885908;SGB=-0.693147;RPB=0.404185;MQB=2.43892e-11;MQSB=0.434891;BQB=0.990262;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=115;DP4=20,27,25,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:94:255,0,255:47,47	A	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues showed moderate granular cytoplasmic positivity. Airway epithelia, adrenal gland, renal tubules, neurons in CNS and subsets of cells in lymphoid tissue exhibited strong immunoreactivity.	http://www.proteinatlas.org/ENSG00000164002-EXO5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 9.2	nucleus but not nucleoli; cytoplasm	.	BP7, PM2
L	1	43119603	rs138133896	T	C	222	PASS	CCDC30	.	exonic	NM_001080850	.	synonymous SNV	CCDC30:NM_001080850:exon16:c.T2256C:p.L752L	ENST00000340612.4,ENST00000477155.5,ENST00000428554.6,ENST00000471390.5,ENST00000342022.8,ENST00000507855.5,ENSG00000186409.14	.	1p34.2	.	.	.	.	.	rs138133896	.	.	0.0215947	0.0179	0.00379393	.	0.00141782	277186	0.01807101	18870	0.01787796	0.02024648	.	.	.	.	.	.	.	.	.	.	.	0.871	0.634	.	3.41	.	VDB=0.0766647;SGB=-0.693147;RPB=0.427551;MQB=5.75935e-12;MQSB=0.76253;BQB=0.2304;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=108;DP4=19,12,33,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:80:255,0,255:31,49	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Granular cytoplasmic expression mainly in hepatocytes, cells of gastrointestinal tract and renal tubules.	http://www.proteinatlas.org/ENSG00000186409-CCDC30/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 4.3	.	.	.
H	1	44457896	rs748898483	C	T	222	PASS	CCDC24	.	exonic	NM_001349127,NM_001349128,NM_152499	.	missense SNV	CCDC24:NM_001349128:exon2:c.C139T:p.R47W,CCDC24:NM_001349127:exon3:c.C139T:p.R47W,CCDC24:NM_152499:exon3:c.C139T:p.R47W	ENSG00000196517.11,ENST00000372306.7,ENST00000486064.5,ENST00000479055.5,ENST00000466180.1,ENST00000490563.5,ENST00000460543.5,ENST00000463846.5,ENST00000372318.7,ENST00000486504.5,ENST00000372307.7,ENSG00000159214.12,ENST00000485811.5,ENST00000490064.5	.	1p34.1	.	.	.	.	.	rs748898483	.	.	.	.	.	.	0.00000819	244174	.	.	.	.	.	-0.1637	.	0.042,D	0.007,B	0.022,B	1,N	0.392769,N	0.6,N	.	1.1736	-0.189	-1.074	3.143025,22.6	.	0.0100963815128	VDB=0.0199822;SGB=-0.693147;RPB=0.98519;MQB=6.89366e-21;MQSB=0.919887;BQB=0.969035;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=210;DP4=74,11,68,10;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/1:163:255,0,255:85,78	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Moderate to strong cytoplasmic positivity was observed in skeletal muscle as well as in basal cell layers of male genitalia, squamous and respiratory epithelium. Intercalated discs in heart muscle were distinctly stained. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000159214-CCDC24/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 9.7	plasma membrane; cytoplasm	.	PM2
H	1	45295099	rs370215096	C	T	222	PASS	PTCH2	Patched, Drosophila, homolog of, 2	exonic	NM_001166292,NM_003738	.	missense SNV	PTCH2:NM_001166292:exon9:c.G1190A:p.R397H,PTCH2:NM_003738:exon9:c.G1190A:p.R397H	ENST00000372192.3,ENST00000447098.6,ENSG00000117425.13	.	1p34.1	.	.	Score=876;Name=V$MYCMAX_02	.	.	rs370215096	.	.	.	.	.	7.7e-05	0.00000722	277168	.	.	.	.	.	0.2687	Sterol-sensing domain	0.015,D	0.999,D	1.0,D	0.99982,D	0.011595,N	2.38,M	-2.89,D	14.1393	1.101	7.264	6.599681,31	3.61	0.266698073777	VDB=0.983749;SGB=-0.693147;RPB=0.927086;MQB=5.10257e-17;MQSB=0.542391;BQB=0.159992;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=155;DP4=40,23,46,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:121:255,0,255:63,58	C	T	0	1	Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3)	.	.	.	18285427|9462734|16914743|9931336	GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_EPIDERMIS_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_EPIDERMIS_DEVELOPMENT;GO_MOLTING_CYCLE;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_EPIDERMIS_DEVELOPMENT;GO_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION;GO_CELL_FATE_DETERMINATION;GO_CELL_FATE_COMMITMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_FATE_SPECIFICATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_RECEPTOR_BINDING	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_HEDGEHOG_2PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	Normal tissues showed moderate to strong cytoplasmic staining, often with a granular pattern. Pneumocytes, bile duct cells, cells in glomeruli, glial cells and smooth muscle were negative.	http://www.proteinatlas.org/ENSG00000117425-PTCH2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 7.2	.	.	PM1, PM2, PP3
L	1	45811094	rs55819814	A	G	222	PASS	TESK2	Testis-specific protein kinase 2	exonic	NM_001320800,NM_007170	.	synonymous SNV	TESK2:NM_001320800:exon10:c.T885C:p.R295R,TESK2:NM_007170:exon11:c.T1134C:p.R378R	ENST00000486676.5,ENST00000372086.3,ENSG00000070759.16,ENST00000372084.5	.	1p34.1	.	.	.	.	.	rs55819814	.	.	0.0149502	0.0109	0.00239617	.	0.00075051	277144	0.01012189	18870	0.01807229	0.01496479	.	.	.	.	.	.	.	.	.	.	.	1.053	0.662	.	2.39	.	VDB=0.298652;SGB=-0.693147;RPB=0.986501;MQB=3.44429e-15;MQSB=0.983226;BQB=0.953342;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=146;DP4=22,22,37,32;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:99:.:.	0/0:100:.:.	0/0:102:.:.	0/1:113:255,0,255:44,69	A	G	0	1	Testis-specific protein kinase 2, 604746	.	.	.	10512679	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_MATRIX_ADHESION;GO_MALE_GAMETE_GENERATION;GO_CELL_SUBSTRATE_ADHESION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SEXUAL_REPRODUCTION;GO_CELL_JUNCTION_ORGANIZATION;GO_ADHERENS_JUNCTION_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CELL_SUBSTRATE_JUNCTION_ASSEMBLY;GO_CELL_SUBSTRATE_ADHERENS_JUNCTION_ASSEMBLY;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_GAMETE_GENERATION;GO_CELL_JUNCTION_ASSEMBLY;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION;GO_BIOLOGICAL_ADHESION	.	GO_PROTEIN_SERINE_THREONINE_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Nuclear expression in a subset of tissues.	http://www.proteinatlas.org/ENSG00000070759-TESK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 14.0	nucleus but not nucleoli	.	.
H	1	46512289	rs114180250	T	C	196	PASS	LOC110117498-PIK3R3,PIK3R3	Phosphatidylinositol 3-kinase, regulatory, 3	exonic	NM_001114172,NM_001303427,NM_001303428,NM_001303429,NM_001328648,NM_001328649,NM_001328650,NM_001328651,NM_001328652,NM_001328653,NM_001328654,NM_003629	.	missense SNV	PIK3R3:NM_001328654:exon6:c.A482G:p.N161S,PIK3R3:NM_001303429:exon7:c.A773G:p.N258S,PIK3R3:NM_001328653:exon7:c.A707G:p.N236S,LOC110117498-PIK3R3:NM_001303427:exon8:c.A1088G:p.N363S,PIK3R3:NM_001328648:exon8:c.A818G:p.N273S,PIK3R3:NM_001328649:exon8:c.A818G:p.N273S,PIK3R3:NM_001328650:exon8:c.A818G:p.N273S,PIK3R3:NM_001328651:exon8:c.A818G:p.N273S,PIK3R3:NM_001328652:exon8:c.A950G:p.N317S,PIK3R3:NM_003629:exon8:c.A950G:p.N317S,PIK3R3:NM_001114172:exon9:c.A950G:p.N317S,PIK3R3:NM_001303428:exon9:c.A1001G:p.N334S	ENSG00000117461.14,ENST00000423209.5,ENST00000420542.5,ENST00000540385.2,ENST00000488808.1,ENSG00000278139.1,ENST00000372006.5,ENST00000262741.9	.	1p34.1	.	.	Score=891;Name=V$ZID_01	.	.	rs114180250	.	.	0.0199336	0.0159	0.00339457	.	0.00113347	277026	0.01552894	18868	0.02176448	0.01320423	.	-4.4726	.	0.182,T	0.005,B	0.002,B	0.999999,D	0.000034,N	1.445,L	-1.36,T	9.7183	0.172	0.954	.	.	.	VDB=0.636384;SGB=-0.683931;RPB=0.482912;MQB=3.12837e-06;MQSB=0.815326;BQB=0.992925;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=56;DP4=17,9,10,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:39:229,0,255:26,13	T	C	0	1	Phosphatidylinositol 3-kinase, regulatory, 3, 606076	.	.	.	9524259	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_GLUCOSE_IMPORT;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_INSULIN;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_GLUCOSE_IMPORT_IN_RESPONSE_TO_INSULIN_STIMULUS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GLUCOSE_TRANSPORT;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GLUCOSE_IMPORT_IN_RESPONSE_TO_INSULIN_STIMULUS	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_TRANSFERASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PHOSPHATIDYLINOSITOL_3_KINASE_COMPLEX;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE	GO_KINASE_REGULATOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_MTOR_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_ERBB4_PATHWAY;PID_TRAIL_PATHWAY;PID_TCPTP_PATHWAY;PID_FAS_PATHWAY;PID_CXCR4_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_PI3KCI_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_ERBB2_ERBB3_PATHWAY;PID_PDGFRB_PATHWAY;PID_NEPHRIN_NEPH1_PATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_CXCR3_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_IL_7_SIGNALING;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_SIGNALING_BY_GPCR;REACTOME_GPVI_MEDIATED_ACTIVATION_CASCADE;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_CD28_CO_STIMULATION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_COSTIMULATION_BY_THE_CD28_FAMILY;REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING;REACTOME_SIGNALING_BY_ILS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_REGULATION_OF_SIGNALING_BY_CBL;REACTOME_IL_3_5_AND_GM_CSF_SIGNALING;REACTOME_IL_RECEPTOR_SHC_SIGNALING;REACTOME_IL_2_SIGNALING;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	.	.	.	.	.	.	.
H	1	46860224	rs151184893	C	T	222	PASS	FAAH	Fatty acid amide hydrolase	splicing	NM_001441	NM_001441:exon1:c.195+9C>T	.	.	ENST00000468718.5,ENST00000493735.5,ENSG00000117480.15,ENST00000243167.8	CpG: 71	1p33	.	.	.	.	.	rs151184893	.	.	0.0299003	0.0198	0.00479233	0.0002	0.00210143	35690	0.02270012	1674	0.03870089	0.04225352	.	.	.	.	.	.	.	.	.	.	.	-1.096	-2.439	0.984496,10.57	.	.	VDB=0.023515;SGB=-0.69168;RPB=0.806582;MQB=0.000113739;MQSB=0.583442;BQB=0.787025;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=47;DP4=11,3,12,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:33:255,0,255:14,19	C	T	0	1	{Drug addiction, susceptibility to}, 606581 (3)	.	.	.	12459591|15254019|11470906|8900284|16972078|9122178|23556448|12060782|9878243	GO_FATTY_ACID_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_CYTOSKELETON;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBON_NITROGEN_LIGASE_ACTIVITY_WITH_GLUTAMINE_AS_AMIDO_N_DONOR;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;GO_LIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_LIGASE_ACTIVITY	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000117480-FAAH/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 32.0	.	.	BS1
H	1	53729860	rs757383846	C	T	222	PASS	LRP8	Low density lipoprotein receptor-related protein 8 (Apolipoprotein E receptor 2)	exonic	NM_001018054,NM_004631,NM_017522,NM_033300	.	missense SNV	LRP8:NM_033300:exon8:c.G1126A:p.A376T,LRP8:NM_017522:exon9:c.G1249A:p.A417T,LRP8:NM_001018054:exon10:c.G1636A:p.A546T,LRP8:NM_004631:exon10:c.G1636A:p.A546T	ENSG00000157193.15,ENST00000465675.5,ENST00000475501.1,ENST00000480045.5,ENST00000306052.10,ENST00000459674.5,ENST00000354412.7,ENST00000347547.6,ENST00000481431.1,ENST00000371454.6	.	1p32.3	.	.	.	.	.	rs757383846	.	.	.	.	.	.	0.00004883	245732	0.00052180	17248	.	.	.	-0.5191	EGF-like calcium-binding domain;EGF-like calcium-binding, conserved site;Epidermal growth factor-like domain;Six-bladed beta-propeller, TolB-like	0.005,D	0.937,D	0.994,D	1,D	.	2.32,M	-4.46,D	14.8966	1.251	4.742	6.194985,28.7	4.07	0.197753722761	VDB=0.738167;SGB=-0.693147;RPB=0.936801;MQB=2.55864e-15;MQSB=0.392682;BQB=0.928538;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=149;DP4=53,1,57,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:53:.:.	0/0:101:.:.	0/0:52:.:.	0/0:100:.:.	0/1:120:255,0,255:54,66	C	T	0	1	{Myocardial infarction, susceptibility to}, 608446 (3)	.	.	.	10571241|8626535|9079678|21460838|17847002|10380922|16642433|14732905	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_RESPONSE_TO_LIPID;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_CREB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_HIPPOCAMPUS_DEVELOPMENT;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_STEROL;GO_TERPENOID_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_CHOLESTEROL;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_CELLULAR_RESPONSE_TO_STEROL;GO_HEAD_DEVELOPMENT;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_DRUG;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DENDRITIC_SPINE_MORPHOGENESIS;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_MORPHOGENESIS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_TELENCEPHALON_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_ENDOCYTOSIS;GO_RESPONSE_TO_ALCOHOL;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_PROTEOLYSIS;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_MICROTUBULE_CYTOSKELETON;GO_EXCITATORY_SYNAPSE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_MEMBRANE_MICRODOMAIN;GO_RECEPTOR_COMPLEX;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_PLASMA_MEMBRANE_RAFT;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_LIPID_COMPLEX_BINDING;GO_CALCIUM_ION_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_KINESIN_BINDING;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_APOLIPOPROTEIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_REELIN_PATHWAY;PID_LIS1_PATHWAY	.	REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS	.	http://www.proteinatlas.org/ENSG00000157193-LRP8/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	appendix: 5.2	.	.	PM1, PM2, PP3
L-	1	57169953	.	T	C	222	PASS	PRKAA2	Protein kinase, AMP-activated, alpha-2 catalytic subunit	exonic	NM_006252	.	synonymous SNV	PRKAA2:NM_006252:exon7:c.T1098C:p.H366H	ENST00000371244.8,ENST00000610361.1,ENSG00000162409.10	.	1p32.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0080	.	.	.	.	.	.	.	.	.	0.150	1.247	.	.	.	VDB=0.03865;SGB=-0.693097;RPB=0.946346;MQB=6.96964e-07;MQSB=0.998426;BQB=0.759526;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=62;DP4=11,6,20,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:41:.:.	0/0:50:.:.	0/1:47:255,0,255:17,30	T	C	0	1	Protein kinase, AMP-activated, alpha-2 catalytic subunit, 600497	.	.	.	7988703|1536860|9208914|1365882|17244528|11797013|11389854|20558612|16801347|9224708|9758629|12511592	GO_ION_TRANSPORT;GO_CHROMOSOME_ORGANIZATION;GO_STEROID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_AUTOPHAGY;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_PROSTAGLANDIN_E;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_PEPTIDYL_SERINE_MODIFICATION;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_RESPONSE_TO_PROSTAGLANDIN_STIMULUS;GO_MITOCHONDRIAL_TRANSPORT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_CELL_CYCLE_ARREST;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NUCLEOSIDE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_ENERGY_HOMEOSTASIS;GO_AMINO_ACID_BETAINE_TRANSPORT;GO_AMMONIUM_TRANSMEMBRANE_TRANSPORT;GO_CATION_TRANSPORT;GO_MACROAUTOPHAGY;GO_ORGANIC_ACID_TRANSPORT;GO_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_LIPID_HOMEOSTASIS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_ANION_TRANSPORT;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_NUCLEOSIDE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_FATTY_ACID_HOMEOSTASIS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_AUTOPHAGY;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_PROSTAGLANDIN;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_QUATERNARY_AMMONIUM_GROUP_TRANSPORT;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_NEGATIVE_REGULATION_OF_TOR_SIGNALING;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_COVALENT_CHROMATIN_MODIFICATION;GO_ANION_HOMEOSTASIS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CHROMATIN_ORGANIZATION;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELL_CYCLE;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_RESPONSE_TO_PROSTAGLANDIN_E_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_RESPONSE_TO_FATTY_ACID;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_TOR_SIGNALING;GO_CELLULAR_RESPONSE_TO_FATTY_ACID;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_HOMEOSTASIS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_CELL_CYCLE;GO_RESPONSE_TO_MUSCLE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_DRUG;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_AMMONIUM_TRANSPORT;GO_CELLULAR_RESPONSE_TO_KETONE;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_ION_HOMEOSTASIS;GO_INTRACELLULAR_LIPID_TRANSPORT;GO_STEROL_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_COFACTOR_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_GLUCOSE_STARVATION;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_TRANSPORT;GO_LIPID_LOCALIZATION;GO_STEROL_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_AUTOPHAGY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_FATTY_ACID_TRANSPORT;GO_HISTONE_PHOSPHORYLATION;GO_PHOSPHORYLATION;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CARBOHYDRATE_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DRUG;GO_RESPONSE_TO_STARVATION;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_ACTIVITY	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_TRANSFERASE_COMPLEX;GO_PROTEIN_KINASE_COMPLEX;GO_CATALYTIC_COMPLEX	GO_PROTEIN_SERINE_THREONINE_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_CHROMATIN_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_HISTONE_KINASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_REGULATION_OF_AUTOPHAGY;KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM	PID_LKB1_PATHWAY;PID_VEGFR1_2_PATHWAY	BIOCARTA_CHREBP2_PATHWAY;BIOCARTA_LEPTIN_PATHWAY	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_REGULATION_OF_RHEB_GTPASE_ACTIVITY_BY_AMPK;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_PI3K_CASCADE	Most normal tissues showed weak to moderate cytoplasmic positivity. Cardiomyocytes, skeletal muscles, cells in granular layer of cerebellum, stomach and renal tubules showed strong immunoreactivity. Lymphoid tissues, glial cells, liver and squamous epithelium were negative.	http://www.proteinatlas.org/ENSG00000162409-PRKAA2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skeletal muscle: 10.3	.	.	BP7, PM2
L	1	57185350	rs201872334	T	C	222	PASS	C1orf168	.	exonic	NM_001004303	.	synonymous SNV	C1orf168:NM_001004303:exon20:c.A2181G:p.S727S	ENST00000343433.6,ENST00000493000.5,ENST00000497991.1,ENSG00000187889.12	.	1p32.2	.	.	.	.	.	rs201872334	.	.	0	0.003	0.000599042	.	0.00028079	274228	0.00412161	18682	0.00388802	0.00176056	.	.	.	.	.	.	.	.	.	.	.	-0.470	-0.820	.	.	.	VDB=0.628858;SGB=-0.69311;RPB=0.989141;MQB=2.50095e-10;MQSB=0.992718;BQB=0.325696;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=84;DP4=16,17,17,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:64:255,0,255:33,31	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000187889-C1orf168/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	kidney: 2.7	.	.	BP7, PM2
L	1	62713252	rs187338839	C	T	222	PASS	KANK4	KN motif- and ankyrin repeat domain-containing protein 4	exonic	NM_001320269,NM_181712	.	synonymous SNV	KANK4:NM_001320269:exon8:c.G891A:p.Q297Q,KANK4:NM_181712:exon9:c.G2775A:p.Q925Q	ENST00000371150.5,ENST00000354381.3,ENST00000317477.8,ENST00000371153.8,ENSG00000132854.18	.	1p31.3	.	.	.	.	.	rs187338839	.	.	0.0448505	0.0327	0.00678914	.	0.00166729	276496	0.02358991	18864	0.01690634	0.01056338	.	0.7143	.	.	.	.	.	.	.	.	.	0.206	1.167	1.961701,15.97	.	.	VDB=0.495983;SGB=-0.692717;RPB=0.983638;MQB=0.000127673;MQSB=0.693995;BQB=0.662032;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=132;DP4=43,16,27,11;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:45:255,0,255:22,23	0/0:31:.:.	0/0:50:.:.	0/1:52:213,0,255:37,15	C	T	0	2	KN motif- and ankyrin repeat domain-containing protein 4, 614612	.	.	.	25961457|17996375	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000132854-KANK4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	salivary gland: 4.0	cytoplasm; cytoskeleton (microtubules)	.	BP7
L	1	63902619	rs150298974	C	T	222	PASS	ALG6	Alg6, S. cerevisiae, homolog of	exonic	NM_013339	.	synonymous SNV	ALG6:NM_013339:exon15:c.C1452T:p.F484F	ENST00000371108.8,ENSG00000088035.15,ENST00000603108.5,ENST00000494765.1,ENST00000263440.4	.	1p31.3	.	.	.	.	.	rs150298974	.	.	0.0149502	0.0129	0.00259585	.	0.00124012	276586	0.01803905	18848	0.01515740	0.00880282	.	.	.	.	.	.	.	.	.	.	.	1.320	0.645	1.748414,14.68	3.25	.	VDB=0.000979125;SGB=-0.692352;RPB=0.513783;MQB=9.43175e-06;MQSB=0.924961;BQB=0.746118;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=157;DP4=33,29,23,23;MinDP=11;AN=18;AC=2	GT:DP:PL:AD	0/0:11:.:.	0/0:51:.:.	0/0:31:.:.	0/0:50:.:.	0/0:32:.:.	0/0:31:.:.	0/1:43:255,0,255:22,21	0/0:50:.:.	0/1:65:255,0,255:40,25	C	T	0	2	Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive	.	.	.	9710431|10832578|10359825|10914684|21334936|16007612|11558905|11875054|10924277	GO_PROTEIN_N_LINKED_GLYCOSYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_OLIGOSACCHARIDE_LIPID_INTERMEDIATE_BIOSYNTHETIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GLUCOSYLTRANSFERASE_ACTIVITY	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	.	http://www.proteinatlas.org/ENSG00000088035-ALG6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 9.2	endoplasmic reticulum	.	.
H	1	85666118	rs78000272	C	T	222	PASS	SYDE2	.	exonic	NM_032184	.	missense SNV	SYDE2:NM_032184:exon1:c.G562A:p.V188I	ENST00000341460.5,ENSG00000097096.8,ENST00000234668.6	CpG: 178	1p22.3	.	.	.	.	.	rs78000272	.	.	0.0398671	0.0367	0.00758786	.	0.00268111	277124	0.03810281	18870	0.03390491	0.03887884	.	.	.	0.0,D	0.592,P	0.946,P	0.917187,D	0.000066,D	1.935,L	2.69,T	14.308	2.507	3.675	6.575508,31	4.38	.	VDB=0.54051;SGB=-0.693147;RPB=0.805593;MQB=1.04981e-18;MQSB=0.536385;BQB=0.930942;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=197;DP4=49,43,42,22;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/1:156:255,0,255:92,64	C	T	0	1	.	.	.	.	.	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES	Most normal tissues showed weak to moderate cytoplasmic and nuclear positivity. Subsets of skeletal muscle fibers expressed strong immunoreactivity. Squamous epithelium, lymphoid tissue, the liver and smooth muscle were in general negative.	http://www.proteinatlas.org/ENSG00000097096-SYDE2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 2.9	nucleoli; golgi apparatus; vesicles	.	BS1, PP3
L	1	92540868	rs569444534	G	A	168	PASS	SETSIP	.	exonic	NM_001287737	.	missense SNV	SETSIP:NM_001287737:exon1:c.C131T:p.P44L	ENST00000485873.2,ENST00000596516.2,ENSG00000230667.5	.	1p22.1	.	.	.	Score=0.956618;Name=chr3:155705026	.	rs569444534	.	.	0.00166113	0.001	0.000199681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.083	-0.819	.	.	.	VDB=0.095944;SGB=-0.69168;RPB=0.774945;MQB=1.37096e-06;MQSB=0.177769;BQB=0.861066;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=52;DP4=14,4,19,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:37:201,0,255:18,19	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000230667-SETSIP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	tonsil: 3.2	nucleus but not nucleoli	.	PM2
H	1	92944314	rs371078453	C	CAG	220	PASS	GFI1	Growth factor independent 1	splicing	NM_001127215,NM_001127216,NM_005263	NM_001127215:exon6:c.925-4->CT;NM_001127216:exon6:c.925-4->CT;NM_005263:exon6:c.925-4->CT	.	.	ENST00000427103.5,ENSG00000162676.11,ENST00000294702.5,ENST00000370332.5	.	1p22.1	.	.	.	.	.	rs371078453	Benign;not_specified;RCV000454714.1;MedGen;CN169374	.	.	.	.	.	.	.	.	.	0.09424796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.413257,10.66	.	.	INDEL;VDB=0.0088827;SGB=-0.689466;MQSB=0.933333;MQ0F=0;MQ=48;ICB=1;HOB=0.5;DP=286;DP4=1,12,4,112;IDV=26;IMF=0.604651;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:17:1,.	0/0:231,.,.:13:2,.	0/0:141,.,.:19:8,.	0/0:255,.,.:19:0,.	0/0:255,.,.:14:0,.	0/0:211,.,.:12:1,.	0/0:198,.,.:7:0,.	0/0:255,.,.:16:0,.	4/6:252,.,.,.,.,.,.,.,.,.,127,.,.,.,139,.,.,.,.,.,.,115,.,.,.,.,.,128:12:1,.,.,.,4,.,4	CAGAGAG	CAGAG,C,CAGAGAGAGAG,CAGAGAGAGAGAG,CAGAGAGAGAGAGAG,CAGAGAGAG	0	1	?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant	.	.	.	7789186|12721361|8441411|15254021|15457180|12530980|11810106|11246463|10975525|25043047|11807637|12778173|17707228|15385956|19188499|12049724|17116877	GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_HISTONE_METHYLATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_MONOOXYGENASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELL_CYCLE_PHASE_TRANSITION;GO_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_VITAMIN_METABOLIC_PROCESS;GO_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEUROGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_HISTONE_H3_K4_METHYLATION;GO_CELL_CYCLE;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_NEGATIVE_REGULATION_OF_MONOOXYGENASE_ACTIVITY;GO_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_INVOLVED_IN_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE;GO_CELL_CYCLE_PROCESS;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_BODY;GO_TRANSCRIPTIONAL_REPRESSOR_COMPLEX;GO_NUCLEOPLASM_PART;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING	.	PID_MYC_REPRESS_PATHWAY	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000162676-GFI1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 5.4	.	.	BP6
L-	1	98144718	.	A	T	222	PASS	DPYD	Dihydropyrimidine dehydrogenase	exonic	NM_000110	.	synonymous SNV	DPYD:NM_000110:exon8:c.T783A:p.L261L	ENSG00000188641.12,ENST00000370192.7	.	1p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1677	.	.	.	.	.	.	.	.	.	0.142	1.060	.	2.01	.	VDB=0.000721846;SGB=-0.692352;RPB=0.99578;MQB=1.92665e-05;MQSB=0.662066;BQB=0.954095;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=54;DP4=11,5,12,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:37:255,0,255:16,21	A	T	0	1	Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive	.	.	.	1648430|9918128|7832988|9010022|7713523|8051923|19296131|10027339|10071185|9470816|9686374|9254861|8892022|9439663|9266349|9721209|8698850|8083224|19622726	GO_CELLULAR_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOBASE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_NUCLEOBASE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_PURINE_NUCLEOBASE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_CATABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_CATABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	.	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_METAL_CLUSTER_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_NADP_BINDING;GO_COFACTOR_BINDING;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_4_IRON_4_SULFUR_CLUSTER_BINDING;GO_COENZYME_BINDING	KEGG_PYRIMIDINE_METABOLISM;KEGG_BETA_ALANINE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_PYRIMIDINE_CATABOLISM;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	Cytoplasmic expression in a subset of leukocytes.	http://www.proteinatlas.org/ENSG00000188641-DPYD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	gallbladder: 32.6	.	.	PM2
L	1	99150467	rs200265126	C	T	108	PASS	SNX7	Sorting nexin 7	exonic	NM_015976,NM_152238	.	synonymous SNV	SNX7:NM_015976:exon2:c.C207T:p.S69S,SNX7:NM_152238:exon2:c.C207T:p.S69S	ENST00000306121.7,ENST00000529992.5,ENST00000528824.1,ENSG00000162627.16,ENST00000454199.1	.	1p21.3	.	.	.	.	.	rs200265126	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.00054519	260460	0.00758252	17936	0.00641524	0.00704225	.	0.1971	.	.	.	.	.	.	.	.	.	0.235	0.701	1.769266,14.81	.	.	VDB=0.0195328;SGB=-0.662043;RPB=0.803523;MQB=0.000380129;BQB=0.987676;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=25;DP4=14,0,9,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:23:141,0,174:14,9	C	T	0	1	Sorting nexin 7, 614904	.	.	.	11485546	GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_ENDOCYTOSIS	GO_VESICLE_MEMBRANE;GO_VACUOLE;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_ENDOSOME	GO_PHOSPHATIDYLINOSITOL_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	A majority of normal tissues showed moderate to strong cytoplasmic positivity with a granular pattern. The lung, liver, glomeruli, glial cells and lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000162627-SNX7/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	rectum: 25.2	nucleoli; cytoplasm	.	BP7
L	1	100617938	rs78161968	T	C	192	PASS	LRRC39	.	splicing	NM_001256385,NM_001256386,NM_001256387,NM_144620	NM_001256385:exon9:c.952+3A>G;NM_001256386:exon9:c.952+3A>G;NM_001256387:exon8:c.952+3A>G;NM_144620:exon9:c.952+3A>G	.	.	ENSG00000122477.12,ENST00000370137.5,ENST00000370138.1,ENST00000620882.4,ENST00000342895.7	.	1p21.2	.	.	.	.	.	rs78161968	.	.	0.0564784	0.0446	0.0169728	0.0096	0.00611678	276616	0.03299385	18852	0.02701127	0.02640845	0.9993,0.906	0.3912	.	.	.	.	.	.	.	.	.	2.254	3.995	0.980675,10.55	5.89	.	VDB=0.217085;SGB=-0.683931;RPB=0.998588;MQB=0.884196;MQSB=0.982652;BQB=0.944904;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=50;DP4=19,2,11,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:15:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:13:.:.	0/0:17:.:.	0/0:30:.:.	0/1:34:225,0,255:21,13	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000122477-LRRC39/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 6.6	cytoplasm; nucleus	.	BS1, PP3
L	1	109325118	rs2275344	G	A	222	PASS	STXBP3	.	exonic	NM_007269	.	missense SNV	STXBP3:NM_007269:exon10:c.G884A:p.R295Q	ENST00000370008.3,ENST00000495245.1,ENSG00000116266.10	.	1p13.3	.	.	.	.	.	rs2275344	.	.	0.0365449	0.0357	0.0183706	0.0002	0.00678774	276528	0.04689824	18828	0.04003109	0.03961268	.	-0.2512	.	1.0,T	0.035,B	0.469,P	0.996234,D	0.000022,D	-0.23,N	-1.01,T	7.6939	2.631	2.407	3.235017,22.8	5.59	.	VDB=0.233838;SGB=-0.680642;RPB=0.207131;MQB=8.8427e-05;MQSB=0.249352;BQB=0.908856;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=12,2,6,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:26:255,0,255:14,12	G	A	0	1	.	.	.	.	.	GO_LEUKOCYTE_ACTIVATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_CARBOHYDRATE_TRANSPORT;GO_LEUKOCYTE_DEGRANULATION;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_PROTEIN_SECRETION;GO_INSULIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_HORMONE_LEVELS;GO_NEGATIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_HORMONE_TRANSPORT;GO_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_EXOCYTOSIS;GO_NEGATIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_PEPTIDE_SECRETION;GO_VESICLE_MEDIATED_TRANSPORT;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_MEMBRANE_DOCKING;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_WOUND_HEALING;GO_SECRETION;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELL_CELL_ADHESION;GO_PROTEIN_OLIGOMERIZATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_RESPONSE_TO_INSULIN;GO_MYELOID_LEUKOCYTE_ACTIVATION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_GRANULOCYTE_ACTIVATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_SIGNAL_RELEASE;GO_MYELOID_LEUKOCYTE_MEDIATED_IMMUNITY;GO_MONOSACCHARIDE_TRANSPORT;GO_HEAD_DEVELOPMENT;GO_IMMUNE_RESPONSE;GO_HOMOTYPIC_CELL_CELL_ADHESION;GO_PROTEIN_LOCALIZATION;GO_MYELOID_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEUTROPHIL_MEDIATED_IMMUNITY;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_NEUTROPHIL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_VESICLE_DOCKING;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATED_EXOCYTOSIS;GO_BIOLOGICAL_ADHESION;GO_PLATELET_AGGREGATION;GO_HEMOSTASIS;GO_PEPTIDE_TRANSPORT;GO_IMMUNE_EFFECTOR_PROCESS;GO_PROTEIN_HETEROOLIGOMERIZATION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_VESICLE;GO_APICAL_PART_OF_CELL;GO_SPECIFIC_GRANULE;GO_INTRACELLULAR_VESICLE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_SYNTAXIN_1_BINDING;GO_SYNTAXIN_BINDING;GO_SNARE_BINDING	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Most normal tissues showed weak cytoplasmic immunoreactivity. Large intestine, gall bladder, pancreatic intercalated ducts and pulmonary capillaries displayed strong luminal membranous immunoreactivity.	http://www.proteinatlas.org/ENSG00000116266-STXBP3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 35.4	nucleus but not nucleoli; cytoplasm	.	BS1
H	1	109377140	rs140022518	C	A	210	PASS	AKNAD1	.	exonic	NM_152763	.	missense SNV	AKNAD1:NM_152763:exon9:c.G1675T:p.G559C	ENST00000474186.5,ENST00000370001.7,ENST00000369994.5,ENSG00000162641.18,ENST00000369995.7,ENST00000461774.5	.	1p13.3	.	.	.	.	.	rs140022518	.	.	0.0265781	0.0218	0.00439297	.	0.00154873	237614	0.02226896	16166	0.02856588	0.02816901	.	-5.1591	.	0.022,D	0.712,P	0.998,D	1,N	.	0.805,L	2.43,T	3.6301	-2.013	-0.586	1.710620,14.47	.	.	VDB=0.612325;SGB=-0.689466;RPB=0.84697;MQB=0.00253075;MQSB=0.26331;BQB=0.84697;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=44;DP4=13,4,14,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:33:243,0,255:17,16	C	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000162641-AKNAD1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	cytoplasm	.	.
H+	1	109465156	rs199964596	TCAA	T	222	PASS	GPSM2	G protein signaling modulator 2	exonic	NM_001321038,NM_001321039,NM_013296	.	nonframeshift deletion	GPSM2:NM_001321038:exon13:c.1559_1561del:p.520_521del,GPSM2:NM_001321039:exon13:c.1559_1561del:p.520_521del,GPSM2:NM_013296:exon13:c.1559_1561del:p.520_521del	ENST00000264126.7,ENSG00000274068.1,ENST00000406462.6,ENST00000357393.5,ENST00000441735.1,ENSG00000121957.12	.	1p13.3	.	.	.	.	.	rs199964596	.	.	0.00830565	0.0129	0.00279553	.	0.00140353	264334	0.01683841	18826	0.01165954	0.01672535	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719329,7.829	.	.	INDEL;VDB=0.0194627;SGB=-0.692717;MQSB=0.990046;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=71;DP4=23,16,11,12;IDV=24;IMF=0.338028;MinDP=10;AN=16;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	./.:.:.:.	0/0:50:.:.	0/0:50:.:.	0/1:62:255,0,255:39,23	TCAA	T	0	1	Chudley-McCullough syndrome, 604213 (3), Autosomal recessive	.	.	.	11832491|22578326|16357871|8973305|15623799|23318951|20602914|21331036|21348867	GO_ESTABLISHMENT_OF_SPINDLE_ORIENTATION;GO_EPITHELIUM_DEVELOPMENT;GO_LUNG_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_SPINDLE_LOCALIZATION;GO_LUNG_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_ORIENTATION;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_MITOTIC_CELL_CYCLE;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_MAINTENANCE_OF_LOCATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_TUBE_DEVELOPMENT;GO_MITOTIC_SPINDLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_LOCALIZATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_CENTROSOME_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOPLASMIC_REGION;GO_MITOTIC_SPINDLE;GO_APICAL_PART_OF_CELL;GO_SPINDLE_POLE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_CORTEX;GO_SPINDLE	GO_G_PROTEIN_ALPHA_SUBUNIT_BINDING;GO_GDP_DISSOCIATION_INHIBITOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	.	Ubiquitous granular cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000121957-GPSM2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 27.8	cytoplasm	.	PM4
L	1	110036836	rs79471201	C	T	222	PASS	CYB561D1	.	exonic	NM_001134400,NM_001134403,NM_001134404,NM_182580	.	synonymous SNV	CYB561D1:NM_001134400:exon1:c.C75T:p.G25G,CYB561D1:NM_001134403:exon1:c.C75T:p.G25G,CYB561D1:NM_001134404:exon1:c.C75T:p.G25G,CYB561D1:NM_182580:exon1:c.C75T:p.G25G	ENST00000310611.8,ENST00000430195.2,ENST00000393709.3,ENST00000533024.5,ENST00000496961.5,ENST00000527072.5,ENST00000420578.6,ENST00000528785.1,ENST00000369868.7,ENSG00000174151.14	CpG: 38	1p13.3	.	.	Score=1000;Name=V$AP2REP_01	.	.	rs79471201	.	.	0.0182724	0.0149	0.00379393	.	0.00280263	199812	0.01800120	13388	0.02837155	0.03521127	.	.	.	.	.	.	.	.	.	.	.	2.564	1.575	2.099571,16.85	4.96	.	VDB=0.263581;SGB=-0.693147;RPB=0.610752;MQB=1.06486e-10;MQSB=0.161651;BQB=0.387254;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=141;DP4=44,8,33,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:98:255,0,255:52,46	C	T	0	1	.	.	.	.	.	GO_OXIDATION_REDUCTION_PROCESS	.	.	.	.	.	.	Subsets of inflammatory and alveolar cells exhibited strong cytoplasmic staining. Superficial layers of squamous epithelia generally showed moderate nuclear positivity. The remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000174151-CYB561D1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 13.3	.	.	PP3
L	1	110235859	.	C	A	222	PASS	GSTM1	Glutathione S-transferase M1	exonic	NM_000561,NM_146421	.	missense SNV	GSTM1:NM_146421:exon7:c.C488A:p.S163Y,GSTM1:NM_000561:exon8:c.C599A:p.S200Y	ENST00000369819.2,ENST00000483399.6,ENSG00000213366.12,ENST00000369831.6,ENST00000460717.7,ENST00000369823.6,ENST00000490021.2,ENSG00000260246.1,ENST00000349334.7,ENST00000562538.1,ENSG00000134184.12,ENST00000309851.9	.	1p13.3	.	.	.	Score=0.95643;Name=chr1:110216099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Glutathione S-transferase, C-terminal;Glutathione S-transferase, C-terminal-like	0.0,D	0.105,B	0.096,B	1,D	0.000009,U	4.22,H	3.57,T	9.987	0.669	2.620	5.160152,25.4	2.63	0.00967420792707	VDB=0.0597692;SGB=-0.693147;RPB=0.482603;MQB=0.00129182;MQSB=0.00756583;BQB=0.997621;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=255;DP4=69,34,65,24;MinDP=100;AN=10;AC=1	GT:DP:PL:AD	./.:.:.:.	./.:.:.:.	0/0:100:.:.	0/0:100:.:.	./.:.:.:.	./.:.:.:.	0/0:100:.:.	0/0:101:.:.	0/1:192:255,0,255:103,89	C	A	0	1	Glutathione S-transferase M1, 138350	.	.	.	2084706|7468592|16257343|12485442|9156696|10625170|3419925|1930212|15857854|14726165|11470992|3570286|8886122|18948376|2737666|11719393|12524541|1540145|9415705|8317488|6928733|2295125|3698203|3174634|4084207|6712152|1988177|3118757|7485742|1740022|12794689|9452477|1483702|8403204	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_GLUTATHIONE_DERIVATIVE_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_DETOXIFICATION;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_BENZENE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLUTATHIONE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CATABOLIC_PROCESS	.	GO_SULFUR_COMPOUND_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYL_OTHER_THAN_METHYL_GROUPS;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_OLIGOPEPTIDE_BINDING;GO_AMIDE_BINDING;GO_MODIFIED_AMINO_ACID_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_GLUTATHIONE_TRANSFERASE_ACTIVITY;GO_ENZYME_BINDING	KEGG_GLUTATHIONE_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	PID_CMYB_PATHWAY	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUTATHIONE_CONJUGATION;REACTOME_PHASE_II_CONJUGATION	Cytoplasmic and nuclear expression in a few tissues including hepatocytes and a subset of glandular cells in adrenal gland.	http://www.proteinatlas.org/ENSG00000134184-GSTM1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 62.8	.	.	PM1, PM2
L	1	113657233	rs41296184	T	G	222	PASS	LRIG2	Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2	exonic	NM_001312686,NM_014813	.	missense SNV	LRIG2:NM_014813:exon15:c.T2265G:p.D755E,LRIG2:NM_001312686:exon16:c.T1956G:p.D652E	ENST00000361127.5,ENST00000492207.5,ENST00000466161.1,ENSG00000198799.11	.	1p13.2	.	.	.	.	.	rs41296184	.	.	0.0481728	0.0496	0.0177716	0.0106	0.01373036	277196	0.03338987	18868	0.02739992	0.02728873	.	-0.1188	Immunoglobulin I-set;Immunoglobulin subtype 2;Immunoglobulin-like domain;Immunoglobulin-like fold	0.072,T	0.349,B	0.41,B	0.992809,D	0.000000,D	0.885,L	1.54,T	8.8436	0.053	0.413	2.479375,19.33	.	.	VDB=0.403826;SGB=-0.693147;RPB=0.997066;MQB=3.83908e-12;MQSB=0.904167;BQB=0.743077;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=196;DP4=56,39,38,35;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:90:255,0,255:45,45	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/1:78:255,0,255:50,28	T	G	0	2	Urofacial syndrome 2, 615112 (3), Autosomal recessive	.	.	.	15203213|15145052|9872452|23313374	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_NERVE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_REGULATION_OF_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_INNERVATION	.	.	.	.	.	.	A majority of normal tissues showed weak to moderate cytoplasmic positivity. Strong positivity was seen in glandular cells of stomach and in myocytes of skeletal muscle.	http://www.proteinatlas.org/ENSG00000198799-LRIG2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 3.4	golgi apparatus; nucleus	.	BS1, PM1
L*	1	114354933	rs192007948	G	A	222	PASS	RSBN1	Round spermatid basic protein 1	exonic	NM_018364	.	synonymous SNV	RSBN1:NM_018364:exon1:c.C102T:p.D34D	ENSG00000081019.13,ENST00000261441.9,ENST00000612242.4	CpG: 97	1p13.2	.	.	Score=912;Name=V$ZIC3_01	.	.	rs192007948	.	.	0.0149502	0.0188	0.00419329	.	0.00122784	262250	0.01698012	18610	0.01671201	0.01672535	.	.	.	.	.	.	.	.	.	.	.	1.425	1.564	.	3.77	.	VDB=1.85583e-05;SGB=-0.693147;RPB=0.00478415;MQB=2.75264e-33;MQSB=0.379335;BQB=0.547177;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=432;DP4=96,61,83,52;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:292:255,0,255:157,135	G	A	0	1	Round spermatid basic protein 1, 615858	.	.	.	14724137	.	.	.	.	.	.	.	Ubiquitous nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000081019-RSBN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 17.7	nucleus but not nucleoli; vesicles	.	.
L	1	117122289	.	T	TCCA	201	PASS	IGSF3	Immunoglobulin superfamily, member 3	exonic	NM_001007237,NM_001542	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3058_3059insTGG:p.D1020delinsVD,IGSF3:NM_001542:exon10:c.3118_3119insTGG:p.D1040delinsVD	ENST00000369486.7,ENST00000369483.5,ENSG00000143061.17,ENST00000318837.6	.	1p13.1	.	.	.	.	Score=222;Name="235734:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00175370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.975027;SGB=-0.693079;MQSB=0.99259;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=373;DP4=54,111,20,55;IDV=3;IMF=0.0143541;MinDP=88;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:88:.:.	0/1:101:127,0,255:72,29	0/1:139:235,0,255:93,46	T	TCCA	0	2	?Lacrimal duct defect, 149700 (3), Autosomal recessive	.	.	.	24372406|9790749	GO_EXOCRINE_SYSTEM_DEVELOPMENT;GO_GLAND_DEVELOPMENT	GO_CELL_SURFACE	.	.	.	.	.	Luminal membranous expression in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000143061-IGSF3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 20.2	nucleus but not nucleoli; cytoplasm	.	BP3, PM2
L	1	117122307	.	T	TCCA	221	PASS	IGSF3	Immunoglobulin superfamily, member 3	exonic	NM_001007237,NM_001542	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3040_3041insTGG:p.E1014delinsVE,IGSF3:NM_001542:exon10:c.3100_3101insTGG:p.E1034delinsVE	ENST00000369483.5,ENST00000369486.7,ENSG00000143061.17,ENST00000318837.6	.	1p13.1	.	.	.	.	Score=222;Name="235734:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00058366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.904238;SGB=-0.693147;MQSB=0.997343;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=208;DP4=36,57,13,36;IDV=2;IMF=0.00961538;MinDP=100;AN=16;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	./.:.:.:.	0/1:142:255,0,255:93,49	T	TCCA	0	1	?Lacrimal duct defect, 149700 (3), Autosomal recessive	.	.	.	24372406|9790749	GO_EXOCRINE_SYSTEM_DEVELOPMENT;GO_GLAND_DEVELOPMENT	GO_CELL_SURFACE	.	.	.	.	.	Luminal membranous expression in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000143061-IGSF3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 20.2	nucleus but not nucleoli; cytoplasm	.	BP3, PM2
L	1	117149120	rs141675992	G	A	222	PASS	IGSF3	Immunoglobulin superfamily, member 3	exonic	NM_001542	.	missense SNV	IGSF3:NM_001542:exon5:c.C1276T:p.H426Y	ENSG00000143061.17,ENST00000369483.5,ENST00000318837.6,ENST00000369486.7	.	1p13.1	.	.	Score=772;Name=V$MIF1_01	Score=0.972247;Name=chrUn_gl000212:107195	Score=1067;Name="235780:Plat_L3(LINE)"	rs141675992	.	.	0.0116279	0.0139	0.00299521	.	0.00099086	273500	0.01344600	18816	0.00796735	0.00264085	.	2.1624	Immunoglobulin V-set domain;Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like fold	0.993,T	0.775,P	0.851,P	1,D	.	.	4.14,T	12.574	2.672	4.089	2.456426,19.19	4.3	.	VDB=0.115384;SGB=-0.692976;RPB=0.657923;MQB=3.65552e-07;MQSB=0.554537;BQB=0.976173;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=17,9,23,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:52:255,0,255:26,26	G	A	0	1	?Lacrimal duct defect, 149700 (3), Autosomal recessive	.	.	.	24372406|9790749	GO_EXOCRINE_SYSTEM_DEVELOPMENT;GO_GLAND_DEVELOPMENT	GO_CELL_SURFACE	.	.	.	.	.	Luminal membranous expression in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000143061-IGSF3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 20.2	nucleus but not nucleoli; cytoplasm	.	BP1, PM1, PP3
H	1	119466142	rs374500071	G	C	222	PASS	TBX15	T-box 15	exonic	NM_001330677,NM_152380	.	missense SNV	TBX15:NM_001330677:exon5:c.C778G:p.P260A,TBX15:NM_152380:exon5:c.C460G:p.P154A	ENST00000369429.3,ENSG00000092607.13,ENST00000207157.7	.	1p12	.	.	.	.	.	rs374500071	.	.	.	.	.	7.7e-05	0.00006860	276976	0.00063708	18836	0.00097163	.	.	0.0161	p53-like transcription factor, DNA-binding	0.106,T	0.038,B	0.005,B	1,D	0.000000,D	0.4,N	-2.24,D	17.0349	1.443	3.702	.	4.87	0.0464932765304	VDB=0.932901;SGB=-0.69168;RPB=0.919865;MQB=9.33229e-07;MQSB=0.741355;BQB=0.857404;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=52;DP4=8,11,11,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:38:255,0,255:19,19	G	C	0	1	Cousin syndrome, 260660 (3), Autosomal recessive	.	.	.	9693034|15728667|19068278|15652702	GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_TRANSCRIPTIONAL_REPRESSOR_COMPLEX;GO_TRANSCRIPTIONAL_REPRESSOR_COMPLEX;GO_NUCLEOPLASM_PART	GO_RNA_POLYMERASE_II_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	Nuclear expression in skeletal myocytes and a subset of neuronal cells in CNS.	http://www.proteinatlas.org/ENSG00000092607-TBX15/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lymph node: 2.3	.	.	PM1, PM2
L	1	144615283	rs182529635	C	T	222	PASS	NBPF9,NBPF8	Neuroblastoma breakpoint family, member 8	exonic	NM_001037501,NM_001037675,NM_001277444	.	unknown	UNKNOWN	ENST00000446541.1,ENST00000449960.1,ENST00000429694.1,ENST00000423405.1,ENST00000428366.1,ENST00000421407.1,ENST00000589820.1,ENST00000437133.1,ENST00000448172.1,ENST00000334866.9,ENSG00000225241.3	.	1q21.1	.	.	.	Score=0.98555;Name=chr1:148339483	.	rs182529635	.	.	0.0315615	0.0357	0.0357428	.	0.02918235	226404	0.05335995	15030	0.03237129	0.03873239	.	-0.1322	.	.	.	.	.	.	.	.	.	0.598	-0.310	.	.	.	VDB=0.0311825;SGB=-0.693143;RPB=0.999982;MQB=0.00117491;MQSB=0.973684;BQB=0.968421;MQ0F=0;ICB=1;HOB=0.5;MQ=38;DP=103;DP4=19,12,25,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:31,38	C	T	0	1	Neuroblastoma breakpoint family, member 8, 613998	.	.	.	16079250	.	.	.	.	.	.	.	.	.	.	.	.	.	BS1
L	1	144816522	.	G	A	193	PASS	NBPF9,NBPF8	Neuroblastoma breakpoint family, member 8	exonic	NM_001037501,NM_001037675,NM_001277444	.	unknown	UNKNOWN	ENST00000496755.1,ENST00000468645.1,ENST00000281815.8,ENSG00000168614.13,ENST00000471873.1,ENST00000484811.1,ENST00000440491.2,ENST00000338347.4,ENST00000491652.1,ENST00000472811.1,ENST00000375552.4	.	1q21.1	.	.	.	Score=0.984347;Name=chr1:148010934	.	.	.	.	.	.	.	.	0.00000407	245570	0.00005798	17246	.	.	.	-0.4896	.	0.002,D	0.945,D	0.991,D	0.998847,N	.	.	3.06,T	7.323	0.690	0.870	3.805367,23.4	.	.	VDB=0.0751107;SGB=-0.693147;RPB=0.0494998;MQB=0.0496719;MQSB=2.74179e-07;BQB=0.000628207;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=276;DP4=113,19,50,9;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:191:226,0,255:132,59	G	A	0	1	Neuroblastoma breakpoint family, member 8, 613998	.	.	.	16079250	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
L	1	145368473	rs1043749	G	C	116	PASS	NBPF9	Neuroblastoma breakpoint family, member 9	exonic	NM_001277444	.	unknown	UNKNOWN	.	.	1q21.1	.	.	.	Score=0.98083;Name=chr1:148271039	.	rs1043749	.	.	.	.	.	.	0.00020927	267600	0.00022681	17636	0.20808679	0.01699463	.	.	.	1.0,T	.	.	1,N	.	.	3.45,T	2.2125	-1.807	-0.641	.	.	0.000196097398029	VDB=1.2451e-11;SGB=-0.693147;RPB=5.62157e-10;MQB=0;MQSB=0.000249752;BQB=0.221894;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=2975;DP4=1260,246,665,20;MinDP=100;AN=16;AC=5	GT:DP:PL:AD	0/0:100:.:.	./.:.:.:.	0/0:101:.:.	0/1:504:92,0,255:336,168	0/1:363:150,0,255:256,107	0/1:436:147,0,255:289,146	0/1:392:58,0,255:279,113	0/0:382:.:.	0/1:496:70,0,255:346,150	G	C	0	5	Neuroblastoma breakpoint family, member 9, 613999	.	.	.	16079250	.	.	.	.	.	.	.	Cytoplasmic expression in several tissues types.	http://www.proteinatlas.org/ENSG00000269713-NBPF9/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 9.4	vesicles	.	BP4
H-	1	145414790	rs12025510	G	C	222	PASS	HFE2	.	exonic	NM_213653	.	missense SNV	HFE2:NM_213653:exon2:c.G9C:p.E3D	ENST00000636675.1,ENST00000357836.5,ENST00000336751.10,ENST00000634927.1,ENSG00000168509.19,ENST00000421822.2,ENST00000497365.5,ENST00000475797.1	.	1q21.1	.	.	.	.	.	rs12025510	Benign;Hemochromatosis_type_2A;RCV000205262.1;MedGen:OMIM;C1865614:602390	.	0.0166113	0.0129	0.00259585	.	0.00112557	277194	0.01637867	18866	0.01107656	0.01408451	.	1.3150	.	0.604,T	0.0,B	0.0,B	0.70366,D	0.457745,N	0,N	-2.01,D	0.8772	-0.131	-0.295	.	.	.	VDB=0.118683;SGB=-0.693132;RPB=0.992506;MQB=1.02701e-08;MQSB=0.570945;BQB=0.911971;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=191;DP4=36,23,47,31;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:68:255,0,255:34,34	0/0:50:.:.	0/1:69:255,0,255:25,44	G	C	0	2	.	.	.	.	.	GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_PROTEIN_MATURATION;GO_CELLULAR_IRON_ION_HOMEOSTASIS;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_TRANSITION_METAL_ION_HOMEOSTASIS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_RESPONSE_TO_BMP;GO_RESPONSE_TO_GROWTH_FACTOR;GO_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELLULAR_TRANSITION_METAL_ION_HOMEOSTASIS;GO_CELLULAR_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_AUTOPROCESSING;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_IRON_ION_HOMEOSTASIS;GO_PROTEOLYSIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_RECEPTOR_COMPLEX;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_CYTOKINE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_CORECEPTOR_ACTIVITY;GO_GLYCOPROTEIN_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_BMP_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NETRIN1_SIGNALING	.	http://www.proteinatlas.org/ENSG00000168509-HFE2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	esophagus: 7.0	.	.	BP6
L	1	146714431	rs149996735	C	T	222	PASS	CHD1L	Chromodomain helicase DNA-binding protein 1-like	exonic	NM_001256338,NM_001348454,NM_004284	.	synonymous SNV	CHD1L:NM_001256338:exon1:c.C78T:p.A26A,CHD1L:NM_001348454:exon1:c.C78T:p.A26A,CHD1L:NM_004284:exon1:c.C78T:p.A26A	ENST00000369258.8,ENST00000467213.5,ENST00000492728.1,ENST00000488864.5,ENST00000361293.9,ENSG00000131778.18,ENSG00000131781.12,ENSG00000273071.1,ENST00000639534.1,ENST00000369259.4,ENST00000431239.5,ENST00000527849.5,ENST00000606856.1,ENST00000622533.4	CpG: 101	1q21.1	.	.	.	.	.	rs149996735	.	.	0.013289	0.0149	0.00319489	.	0.00061263	75086	0.00977273	4400	0.01476875	0.01232394	.	.	.	.	.	.	.	.	.	.	.	-0.114	-0.787	2.279294,18.03	.	.	VDB=0.155221;SGB=-0.69168;RPB=0.311054;MQB=1.40625e-05;MQSB=0.040501;BQB=0.827162;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=59;DP4=20,5,10,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:40:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:44:255,0,255:25,19	C	T	0	1	Chromodomain helicase DNA-binding protein 1-like, 613039	.	.	.	19661379|20335658|19701453|19666485|18023026	GO_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_DNA_CONFORMATION_CHANGE;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_DNA_REPAIR;GO_CHROMATIN_MODIFICATION;GO_NUCLEOTIDE_EXCISION_REPAIR_PREINCISION_COMPLEX_ASSEMBLY;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR;GO_CHROMATIN_ORGANIZATION;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_DNA_GEOMETRIC_CHANGE;GO_NUCLEOTIDE_EXCISION_REPAIR_DNA_INCISION;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_NUCLEOTIDE_EXCISION_REPAIR_DNA_DUPLEX_UNWINDING;GO_CHROMATIN_REMODELING;GO_CELLULAR_RESPONSE_TO_STRESS;GO_NUCLEOTIDE_EXCISION_REPAIR_PREINCISION_COMPLEX_STABILIZATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_DNA_METABOLIC_PROCESS	.	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000131778-CHD1L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 24.5	nucleus but not nucleoli	.	BP7
M	1	150464913	rs182013142	A	G	222	PASS	TARS2	Threonyl-tRNA synthetase 2	exonic	NM_001271895,NM_025150	.	missense SNV	TARS2:NM_001271895:exon7:c.A722G:p.Q241R,TARS2:NM_025150:exon7:c.A722G:p.Q241R	ENSG00000143374.16,ENST00000467982.6,ENST00000369064.7,ENST00000480070.5,ENST00000460794.1,ENST00000463555.1,ENST00000606933.5,ENST00000462578.1,ENST00000369051.7,ENST00000369054.6,ENST00000438568.6	.	1q21.3	.	.	Score=753;Name=V$PPARA_01	.	.	rs182013142	.	.	0.00830565	0.0079	0.00159744	.	0.00028862	277184	0.00423998	18868	0.00544112	0.00352113	.	0.6240	Threonyl/alanyl tRNA synthetase, SAD;Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain	1.0,T	0.002,B	0.0,B	1,N	0.028543,N	-2.075,N	.	12.6107	-1.992	0.069	.	.	0.00305059204426	VDB=0.0281995;SGB=-0.693147;RPB=0.938424;MQB=4.37592e-14;MQSB=0.608479;BQB=0.93939;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=167;DP4=44,25,27,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:114:255,0,255:69,45	A	G	0	1	?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive	.	.	.	15779907|24827421	GO_AMINO_ACID_ACTIVATION;GO_TRNA_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_MITOCHONDRIAL_TRANSLATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_MITOCHONDRIAL_RNA_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_MITOCHONDRIAL_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	Ubiquitous cytoplasmic and nuclear expression.	http://www.proteinatlas.org/ENSG00000143374-TARS2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 13.0	nucleus but not nucleoli; cytoplasm; cytoskeleton (intermediate filaments)	.	BP4, PM1
H	1	150530554	rs149017342	C	T	222	PASS	ADAMTSL4	ADAMTS-like 4	exonic	NM_001288607,NM_001288608,NM_019032,NM_025008	.	missense SNV	ADAMTSL4:NM_019032:exon14:c.C2311T:p.R771W,ADAMTSL4:NM_025008:exon14:c.C2311T:p.R771W,ADAMTSL4:NM_001288607:exon15:c.C2194T:p.R732W,ADAMTSL4:NM_001288608:exon15:c.C2380T:p.R794W	ENST00000369041.9,ENST00000369039.9,ENST00000369038.6,ENST00000271643.8,ENSG00000143382.14	.	1q21.3	.	.	Score=885;Name=V$AP2_Q6	.	.	rs149017342	.	.	0.00664452	0.004	0.000998403	7.7e-05	0.00019572	275898	0.00122236	18816	0.00116595	0.00352113	.	-0.3480	.	0.003,D	0.996,D	1.0,D	0.998897,D	.	2.975,M	0.04,T	11.8384	1.442	0.494	7.534701,34	4.9	0.150234462064	VDB=0.248417;SGB=-0.693136;RPB=0.9932;MQB=1.57326e-12;MQSB=0.704364;BQB=0.860386;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=140;DP4=54,20,21,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:109:255,0,255:74,35	C	T	0	1	Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive	.	.	.	19200529|2377351|20564469|12706885|22736615|20702823|26405179|21989719|20141359|21051722	GO_CELL_DEATH;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PROTEIN_O_LINKED_FUCOSYLATION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_FUCOSYLATION;GO_REGULATION_OF_CELL_DEATH;GO_GLYCOSYLATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_PROTEOLYSIS;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_ENDOPLASMIC_RETICULUM_PART;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTERSTITIAL_MATRIX;GO_ENDOPLASMIC_RETICULUM	GO_PEPTIDASE_ACTIVITY;GO_PROTEASE_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_METALLOPEPTIDASE_ACTIVITY;GO_ENZYME_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000143382-ADAMTSL4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 18.3	plasma membrane; cytoplasm	.	BP1, PM2, PP3
L	1	151137726	rs759017276	G	A	222	PASS	LYSMD1	.	exonic	NM_212551	.	synonymous SNV	LYSMD1:NM_212551:exon1:c.C9T:p.S3S	ENSG00000163156.11,ENST00000440902.2,ENST00000368908.9,ENST00000602841.5,ENSG00000163155.11	.	1q21.3	.	.	.	.	.	rs759017276	.	.	.	.	.	.	0.00002878	243194	0.00029124	17168	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.445	-0.330	.	.	.	VDB=0.75207;SGB=-0.693127;RPB=0.0900796;MQB=3.18738e-12;MQSB=0.999186;BQB=0.998807;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=101;DP4=16,31,12,21;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:80:255,0,255:47,33	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Parietal cells in gastric mucosa, renal tubules and hepatocytes showed moderate cytoplasmic staining. The remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000163155-LYSMD1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 8.9	nucleus	.	BP7, PM2
L	1	152052316	rs2338311	T	C	222	PASS	LOC100131107	.	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.A968G:p.H323R	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs2338311	.	.	0.0681063	0.0704	0.0189696	.	0.00523594	30940	0.02657602	1618	0.01110678	0.02024648	.	.	.	.	.	.	.	.	.	.	.	-2.094	-1.905	.	.	.	VDB=0.0514168;SGB=-0.693021;RPB=0.864566;MQB=8.80588e-09;MQSB=0.768016;BQB=0.716622;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=86;DP4=14,21,15,12;MinDP=35;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:65:.:.	0/0:62:.:.	0/0:51:.:.	0/0:51:.:.	0/0:49:.:.	0/0:35:.:.	0/0:50:.:.	0/1:62:255,0,255:35,27	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	1	152052893	rs77894571	T	C	222	PASS	LOC100131107	.	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.A391G:p.N131D	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs77894571	.	.	0.0631229	0.0675	0.0141773	.	0.00151819	30958	0.02281134	1622	0.01438010	0.01672535	.	.	.	.	.	.	.	.	.	.	.	0.077	0.354	.	.	.	VDB=0.55466;SGB=-0.693147;RPB=0.663119;MQB=7.7037e-12;MQSB=0.959376;BQB=0.984304;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=213;DP4=57,33,58,23;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:171:255,0,255:90,81	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	1	152053243	rs184986990	C	T	101	PASS	LOC100131107	.	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.G41A:p.R14H	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs184986990	.	.	0.0614618	0.0665	0.0139776	.	0.00152123	30896	0.02283951	1620	0.01251467	0.01584507	.	.	.	.	.	.	.	.	.	.	.	0.510	0.347	.	.	.	VDB=0.0622373;SGB=-0.670168;RPB=0.977933;MQB=0.0522857;MQSB=1;BQB=0.551198;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=22;DP4=1,10,0,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:12:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:134,0,187:11,10	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	1	152057793	rs79690779	A	G	222	PASS	TCHHL1	.	exonic	NM_001008536	.	missense SNV	TCHHL1:NM_001008536:exon3:c.T2365C:p.C789R	ENST00000368806.1,ENSG00000182898.3	.	1q21.3	.	.	.	.	.	rs79690779	.	.	0.0614618	0.0665	0.0139776	0.0003	0.00224741	276318	0.02904388	18868	0.01438010	0.01584507	.	.	.	0.038,D	0.006,B	0.028,B	1,N	0.300622,N	0.55,N	1.69,T	0.2585	-0.782	-0.201	.	.	.	VDB=0.013886;SGB=-0.69311;RPB=0.448032;MQB=6.69865e-11;MQSB=0.96348;BQB=0.995143;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=98;DP4=26,20,18,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:77:255,0,255:46,31	A	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000182898-TCHHL1/tissue	FPKM<0.5 in all tissues <Not detected>	.	nucleoli; nuclear membrane	.	BP4
L	1	152059659	rs77167778	T	A	222	PASS	TCHHL1	.	exonic	NM_001008536	.	missense SNV	TCHHL1:NM_001008536:exon3:c.A499T:p.N167Y	ENST00000368806.1,ENSG00000182898.3	.	1q21.3	.	.	.	.	.	rs77167778	.	.	0.0614618	0.0665	0.0139776	0.0003	0.00224136	277064	0.02909688	18868	0.01438010	0.01584507	.	.	.	0.016,D	0.347,B	0.879,P	1,N	0.220744,N	1.59,L	1.87,T	4.1918	0.303	0.565	1.516549,13.40	.	.	VDB=0.0173277;SGB=-0.692831;RPB=0.147;MQB=3.07201e-08;MQSB=0.737484;BQB=0.963003;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=80;DP4=25,13,13,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:62:255,0,255:38,24	T	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000182898-TCHHL1/tissue	FPKM<0.5 in all tissues <Not detected>	.	nucleoli; nuclear membrane	.	.
L	1	152080976	rs200503388	T	G	52	PASS	TCHH	Trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.A4717C:p.S1573R	ENST00000614923.1,ENSG00000159450.12,ENST00000368804.5	CpG: 131	1q21.3	.	.	.	.	.	rs200503388	.	.	0.0614618	0.0665	0.0139776	.	0.00088448	269084	0.01084659	17978	0.01438010	0.00707965	.	.	.	0.421,T	0.0,B	0.0,B	0.999935,N	.	-1.085,N	3.72,T	13.5273	-0.305	-1.216	1.341512,12.48	.	.	VDB=1.54699e-12;SGB=-0.693021;RPB=1.11088e-08;MQB=5.49817e-14;MQSB=0.914779;BQB=0.483736;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=185;DP4=62,63,12,15;MinDP=107;AN=18;AC=1	GT:DP:PL:AD	0/0:144:.:.	0/0:149:.:.	0/0:187:.:.	0/0:180:.:.	0/0:107:.:.	0/0:127:.:.	0/0:130:.:.	0/0:135:.:.	0/1:152:88,0,255:125,27	T	G	0	1	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	.	.	.	1431214|7685034|8423399|7686953|3958055|12853460|27866708	GO_EPITHELIUM_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_BINDING_BRIDGING	.	.	.	.	RNA data suggests low expression placenta and spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000159450-TCHH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.7	.	.	.
L	1	152081692	rs72477383	G	C	222	PASS	TCHH	Trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.C4001G:p.T1334R	ENST00000614923.1,ENSG00000159450.12,ENST00000368804.5	CpG: 131	1q21.3	.	.	.	.	.	rs72477383	.	.	0.0614618	0.0665	0.0139776	0.0002	0.00224409	277172	0.02909380	18870	0.01438010	0.01584507	.	.	.	0.099,T	0.0,B	0.0,B	1,N	.	-1.7,N	3.53,T	5.6807	-1.655	-0.514	.	.	.	VDB=0.948501;SGB=-0.693147;RPB=0.811003;MQB=6.15793e-36;MQSB=0.998735;BQB=0.596622;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=329;DP4=66,70,72,55;MinDP=107;AN=18;AC=1	GT:DP:PL:AD	0/0:144:.:.	0/0:149:.:.	0/0:187:.:.	0/0:169:.:.	0/0:107:.:.	0/0:144:.:.	0/0:130:.:.	0/0:135:.:.	0/1:263:255,0,255:136,127	G	C	0	1	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	.	.	.	1431214|7685034|8423399|7686953|3958055|12853460|27866708	GO_EPITHELIUM_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_BINDING_BRIDGING	.	.	.	.	RNA data suggests low expression placenta and spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000159450-TCHH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.7	.	.	BP4
H	1	152082364	rs372810614	C	T	90	PASS	TCHH	Trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G3329A:p.C1110Y	ENST00000614923.1,ENSG00000159450.12,ENST00000368804.5	.	1q21.3	.	.	.	.	.	rs372810614	.	.	.	.	.	.	0.00049252	215218	0.00177431	11272	0.01324503	0.02072072	.	.	.	0.0,D	0.0,B	0.0,B	1,N	.	-1.67,N	3.62,T	3.7854	-1.366	-4.476	.	.	0.00258028671394	VDB=0.999991;SGB=-0.692067;RPB=0.275087;MQB=2.14001e-10;MQSB=0.982969;BQB=0.925851;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=137;DP4=44,31,12,8;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:119:.:.	0/0:103:.:.	0/0:105:.:.	0/0:119:.:.	0/0:100:.:.	0/0:104:.:.	0/0:108:.:.	0/0:100:.:.	0/1:95:125,0,255:75,20	C	T	0	1	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	.	.	.	1431214|7685034|8423399|7686953|3958055|12853460|27866708	GO_EPITHELIUM_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_BINDING_BRIDGING	.	.	.	.	RNA data suggests low expression placenta and spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000159450-TCHH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.7	.	.	BP4
L	1	152082376	rs200755879	C	A	91	PASS	TCHH	Trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G3317T:p.R1106L	ENST00000614923.1,ENSG00000159450.12,ENST00000368804.5	.	1q21.3	.	.	.	.	.	rs200755879	.	.	0.038206	0.0456	0.0107827	0.0022	0.00015809	271994	.	.	0.00800469	0.00265018	.	.	.	0.0,D	0.001,B	0.001,B	1,N	.	1.21,L	2.69,T	4.343	-1.861	-1.956	.	.	.	VDB=0.999998;SGB=-0.692352;RPB=0.696835;MQB=2.10525e-10;MQSB=0.956491;BQB=0.406625;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=133;DP4=43,29,13,8;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:119:.:.	0/0:103:.:.	0/0:105:.:.	0/0:119:.:.	0/0:100:.:.	0/0:104:.:.	0/0:108:.:.	0/0:100:.:.	0/1:93:126,0,255:72,21	C	A	0	1	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	.	.	.	1431214|7685034|8423399|7686953|3958055|12853460|27866708	GO_EPITHELIUM_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_BINDING_BRIDGING	.	.	.	.	RNA data suggests low expression placenta and spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000159450-TCHH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.7	.	.	BP4
L	1	152084651	rs180778449	C	T	160	PASS	TCHH	Trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G1042A:p.E348K	ENST00000614923.1,ENSG00000159450.12,ENST00000368804.5	.	1q21.3	.	.	.	.	Score=318;Name="258314:CT-rich(Low_complexity)"	rs180778449	.	.	0.0631229	0.0655	0.013778	0.0003	0.00058690	258990	0.00779133	17712	0.01420786	0.01232394	.	.	.	0.0,D	0.033,B	0.147,B	1,N	.	0.695,N	3.32,T	7.7365	0.357	-0.583	2.146434,17.16	.	.	VDB=0.0120339;SGB=-0.692352;RPB=0.111535;MQB=0.000801574;MQSB=0.11292;BQB=0.189795;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=103;DP4=38,16,16,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:53:.:.	0/0:30:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/1:75:194,0,255:54,21	C	T	0	1	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	.	.	.	1431214|7685034|8423399|7686953|3958055|12853460|27866708	GO_EPITHELIUM_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_BINDING_BRIDGING	.	.	.	.	RNA data suggests low expression placenta and spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000159450-TCHH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.7	.	.	.
L	1	152127793	rs72477387	T	C	222	PASS	RPTN	Repetin	exonic	NM_001122965	.	synonymous SNV	RPTN:NM_001122965:exon3:c.A1782G:p.Q594Q	ENSG00000233792.3,ENST00000628080.1,ENST00000316073.3,ENSG00000215853.3	.	1q21.3	.	.	.	.	.	rs72477387	.	.	0.0664452	0.0704	0.014976	0.0003	0.00238023	276864	0.03020988	18868	0.01554606	0.01760563	.	.	.	.	.	.	.	.	.	.	.	0.650	1.129	.	2.38	.	VDB=0.477128;SGB=-0.693147;RPB=0.968058;MQB=1.22439e-27;MQSB=0.989125;BQB=0.823999;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=217;DP4=70,24,65,23;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:182:255,0,255:94,88	T	C	0	1	Repetin, 613259	.	.	.	20448179|20448178|15854042	.	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_CORNIFIED_ENVELOPE	GO_CALCIUM_ION_BINDING	.	.	.	.	Cytoplasmic expression in squamous epithelia.	http://www.proteinatlas.org/ENSG00000215853-RPTN/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	esophagus: 0.8	.	.	BS1
L	1	152276798	rs114892044	C	T	222	PASS	FLG	Filaggrin	exonic	NM_002016	.	missense SNV	FLG:NM_002016:exon3:c.G10564A:p.G3522S	ENSG00000143631.10,ENSG00000237975.6,ENST00000368799.1,ENST00000593011.5,ENST00000420707.5	.	1q21.3	.	.	.	Score=0.929016;Name=chr1:152280691	.	rs114892044	.	.	0.0149502	0.0188	0.00539137	0.0011	0.00216735	276836	0.02068307	18856	0.02468896	0.02645503	.	.	.	0.314,T	1.0,D	1.0,D	1,N	.	2.52,M	4.71,T	5.6223	-1.305	-1.106	.	.	.	VDB=0.106834;SGB=-0.693147;RPB=0.360694;MQB=0;MQSB=0.0107752;BQB=0.963498;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=491;DP4=130,61,130,26;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:243:.:.	0/0:362:.:.	0/0:100:.:.	0/0:251:.:.	0/0:100:.:.	0/0:247:.:.	0/0:249:.:.	0/0:222:.:.	0/1:347:255,0,255:191,156	C	T	0	1	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant	.	.	.	4132224|12582320|19349982|2248957|15590704|6174530|21531719|22407025|17030239|2740331|19663875|17291859|16550169|1429717|7835895|17417636|16444271|2579164|8276421|16815158|19384417	GO_EPITHELIUM_DEVELOPMENT;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_WATER_LOSS_VIA_SKIN;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_EPIDERMIS_DEVELOPMENT;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Highly selective cytoplasmic expression in superficial layers in squamous epithelia.	http://www.proteinatlas.org/ENSG00000143631-FLG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 5.9	vesicles	.	.
L	1	152277643	rs188183903	C	T	222	PASS	FLG	Filaggrin	exonic	NM_002016	.	missense SNV	FLG:NM_002016:exon3:c.G9719A:p.R3240H	ENSG00000143631.10,ENSG00000237975.6,ENST00000368799.1,ENST00000593011.5,ENST00000420707.5	.	1q21.3	.	.	.	Score=0.929016;Name=chr1:152280691	.	rs188183903	.	.	0.00166113	0.003	0.000599042	.	0.00028870	277102	0.00365776	18864	0.00544112	0.00880282	.	.	.	1.0,T	0.003,B	0.022,B	1,N	.	-0.905,N	5.66,T	0.5789	-2.877	-0.482	.	.	0.00331739983024	VDB=0.290622;SGB=-0.693147;RPB=0.561561;MQB=1.79271e-18;MQSB=0.644757;BQB=0.904351;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=656;DP4=193,78,161,80;MinDP=101;AN=18;AC=2	GT:DP:PL:AD	0/0:224:.:.	0/0:297:.:.	0/0:101:.:.	0/0:265:.:.	0/1:203:255,0,255:110,93	0/0:191:.:.	0/0:221:.:.	0/0:237:.:.	0/1:309:255,0,255:161,148	C	T	0	2	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant	.	.	.	4132224|12582320|19349982|2248957|15590704|6174530|21531719|22407025|17030239|2740331|19663875|17291859|16550169|1429717|7835895|17417636|16444271|2579164|8276421|16815158|19384417	GO_EPITHELIUM_DEVELOPMENT;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_WATER_LOSS_VIA_SKIN;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_EPIDERMIS_DEVELOPMENT;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Highly selective cytoplasmic expression in superficial layers in squamous epithelia.	http://www.proteinatlas.org/ENSG00000143631-FLG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 5.9	vesicles	.	BP4
L	1	152281866	rs187802033	C	T	222	PASS	FLG	Filaggrin	exonic	NM_002016	.	synonymous SNV	FLG:NM_002016:exon3:c.G5496A:p.S1832S	ENSG00000143631.10,ENSG00000237975.6,ENST00000368799.1,ENST00000593011.5,ENST00000420707.5	.	1q21.3	.	.	.	Score=0.929016;Name=chr1:152275831	.	rs187802033	.	.	0.00166113	0.001	0.000199681	.	0.00011548	277116	0.00084818	18864	0.00058298	.	.	.	.	.	.	.	.	.	.	.	.	-0.217	-0.921	1.064248,11.02	.	.	VDB=0.926715;SGB=-0.693147;RPB=0.255731;MQB=6.20324e-17;MQSB=0.637013;BQB=0.863617;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=291;DP4=51,66,59,76;MinDP=153;AN=18;AC=1	GT:DP:PL:AD	0/0:153:.:.	0/0:220:.:.	0/0:211:.:.	0/0:198:.:.	0/0:176:.:.	0/0:175:.:.	0/0:170:.:.	0/0:200:.:.	0/1:252:255,0,255:117,135	C	T	0	1	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant	.	.	.	4132224|12582320|19349982|2248957|15590704|6174530|21531719|22407025|17030239|2740331|19663875|17291859|16550169|1429717|7835895|17417636|16444271|2579164|8276421|16815158|19384417	GO_EPITHELIUM_DEVELOPMENT;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_WATER_LOSS_VIA_SKIN;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_EPIDERMIS_DEVELOPMENT;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Highly selective cytoplasmic expression in superficial layers in squamous epithelia.	http://www.proteinatlas.org/ENSG00000143631-FLG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 5.9	vesicles	.	BP7, PM2
L	1	152286387	rs146115338	C	T	222	PASS	FLG	Filaggrin	exonic	NM_002016	.	synonymous SNV	FLG:NM_002016:exon3:c.G975A:p.A325A	ENSG00000143631.10,ENSG00000237975.6,ENST00000368799.1,ENST00000392688.6,ENST00000593011.5,ENST00000420707.5	.	1q21.3	.	.	.	Score=0.929016;Name=chr1:152275831	.	rs146115338	.	.	0.013289	0.0179	0.00439297	7.7e-05	0.00161283	277152	0.02019720	18864	0.02409639	0.02728873	.	.	.	.	.	.	.	.	.	.	.	-2.608	-2.930	.	.	.	VDB=0.496244;SGB=-0.693147;RPB=0.741004;MQB=1.14303e-40;MQSB=0.512615;BQB=0.241557;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=341;DP4=85,41,84,52;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/1:262:255,0,255:126,136	C	T	0	1	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant	.	.	.	4132224|12582320|19349982|2248957|15590704|6174530|21531719|22407025|17030239|2740331|19663875|17291859|16550169|1429717|7835895|17417636|16444271|2579164|8276421|16815158|19384417	GO_EPITHELIUM_DEVELOPMENT;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_WATER_LOSS_VIA_SKIN;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_EPIDERMIS_DEVELOPMENT;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_CALCIUM_ION_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Highly selective cytoplasmic expression in superficial layers in squamous epithelia.	http://www.proteinatlas.org/ENSG00000143631-FLG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 5.9	vesicles	.	BP7
L	1	152487910	rs200242493	G	T	222	PASS	CRCT1	Cysteine-rich c-terminal 1	exonic	NM_019060	.	synonymous SNV	CRCT1:NM_019060:exon2:c.G51T:p.S17S	ENSG00000169509.5,ENST00000368790.3	.	1q21.3	.	.	Score=941;Name=V$IK2_01	.	.	rs200242493	.	.	0.00996678	0.0079	0.00179712	.	0.00034431	249776	0.00376454	17532	0.00582977	0.00792254	.	.	.	.	.	.	.	.	.	.	.	-1.592	-0.052	.	.	.	VDB=0.130962;SGB=-0.693141;RPB=0.999136;MQB=0.000370541;MQSB=0.181726;BQB=0.815265;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=96;DP4=25,14,23,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:76:255,0,255:39,37	G	T	0	1	Cysteine-rich c-terminal 1, 617426	.	.	.	11230159	GO_EPITHELIUM_DEVELOPMENT;GO_PEPTIDE_CROSS_LINKING;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT	GO_CORNIFIED_ENVELOPE	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000169509-CRCT1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	skeletal muscle: 0.1	.	.	BP7
H	1	154842199	rs3831942	G	GGCTGCTGCTGCTGCT	225	PASS	KCNN3	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	exonic	NM_001204087,NM_002249	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGCAGCAGC:p.P81delinsQQQQQP,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGCAGCAGC:p.P81delinsQQQQQP	ENST00000618040.4,ENST00000271915.8,ENSG00000143603.18	.	1q21.3	.	.	.	.	.	rs3831942	.	.	.	.	.	.	.	.	.	.	0.39098329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735540,7.906	.	.	INDEL;VDB=2.21099e-05;SGB=-0.688148;MQSB=0.921243;MQ0F=0;MQ=48;DP=414;DP4=0,0,62,100;IDV=21;IMF=0.580645;AN=18;AC=7	GT:PL:DP:AD	1/2:255,185,158,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:15:0,9,5,.,.,.	0/0:255,.,.:18:0,.	3/1:255,255,255,.,.,.,232,.,.,199,.,.,.,.,.,.,.,.,.,.,.:19:0,6,.,11,.,.	1/3:255,108,66,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.:17:0,14,.,3,.,.	1/3:255,255,255,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.:19:0,10,.,8,.,.	1/4:255,206,176,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.:16:0,10,.,.,5,.	0/0:255,.,.:22:0,.	3/1:255,255,255,.,.,.,197,.,.,161,.,.,.,.,.,.,.,.,.,.,.:17:0,5,.,12,.,.	1/2:255,249,225,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:19:0,8,7,.,.,.	G	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCT	0	7	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3, 602983	.	.	.	10395216|12883553|10988076|19380617|9491810|8781233|11501944|12805243|10732800	GO_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_TARGETING	GO_NEURON_PART;GO_CELL_BODY;GO_SOMATODENDRITIC_COMPARTMENT	GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ACTIVATED_POTASSIUM_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_CALCIUM_ACTIVATED_CATION_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALMODULIN_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ION_GATED_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	Most normal cells displayed weak to moderate cytoplasmic positivity. Additional membranous staining was observed in glandular cells in breast, fallopian tube, salivary gland and urinary bladder. Skin, lymphoid tissues and most cells in CNS were negative.	http://www.proteinatlas.org/ENSG00000143603-KCNN3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 6.3	nucleus but not nucleoli	.	PM4
H	1	154842199	rs3831942	G	GGCTGCTGCTGCTGCTGCT	225	PASS	KCNN3	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	exonic	NM_001204087,NM_002249	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGCAGCAGCAGC:p.P81delinsQQQQQQP,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGCAGCAGCAGC:p.P81delinsQQQQQQP	ENSG00000143603.18,ENST00000618040.4,ENST00000271915.8	.	1q21.3	.	.	.	.	.	rs3831942	Benign;not_specified;RCV000454403.1;MedGen;CN169374	.	.	.	.	.	.	.	.	.	0.17236689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709550,7.781	.	.	INDEL;VDB=2.21099e-05;SGB=-0.688148;MQSB=0.921243;MQ0F=0;MQ=48;DP=414;DP4=0,0,62,100;IDV=21;IMF=0.580645;AN=18;AC=5	GT:PL:DP:AD	1/2:255,185,158,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:15:0,9,5,.,.,.	2/2:255,.,.,51,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:18:0,.,17,.,.,.	0/0:255,.,.:19:0,.	0/0:255,.,.:17:0,.	0/0:255,.,.:19:0,.	0/0:255,.,.:16:0,.	5/2:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,183,.,.,.,.,138:22:0,.,5,.,.,15	0/0:255,.,.:17:0,.	1/2:255,249,225,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:19:0,8,7,.,.,.	G	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCT	1	3	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3, 602983	.	.	.	10395216|12883553|10988076|19380617|9491810|8781233|11501944|12805243|10732800	GO_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_TARGETING	GO_NEURON_PART;GO_CELL_BODY;GO_SOMATODENDRITIC_COMPARTMENT	GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ACTIVATED_POTASSIUM_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_CALCIUM_ACTIVATED_CATION_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALMODULIN_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ION_GATED_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	Most normal cells displayed weak to moderate cytoplasmic positivity. Additional membranous staining was observed in glandular cells in breast, fallopian tube, salivary gland and urinary bladder. Skin, lymphoid tissues and most cells in CNS were negative.	http://www.proteinatlas.org/ENSG00000143603-KCNN3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 6.3	nucleus but not nucleoli	.	BP6, PM4
H	1	155247518	rs201299118	G	A	222	PASS	HCN3	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3	exonic	NM_020897	.	missense SNV	HCN3:NM_020897:exon1:c.G137A:p.R46K	ENST00000368358.3,ENSG00000176444.18,ENSG00000143630.9,ENST00000496230.5,ENST00000471047.1	CpG: 63	1q22	.	.	.	.	.	rs201299118	.	.	0.0182724	0.0149	0.00319489	.	0.00088700	241264	0.01063316	16552	0.00719005	0.01146384	.	.	.	0.396,T	0.002,B	0.02,B	0.708987,N	0.000196,D	0,N	-4.61,D	8.9261	2.584	1.101	1.976668,16.06	4.66	.	VDB=0.0824353;SGB=-0.693127;RPB=0.999153;MQB=1.02358e-10;MQSB=0.306208;BQB=0.510939;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=100;DP4=32,5,22,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:37,33	G	A	0	1	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3, 609973	.	.	.	23382386|10819331|16043489	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_AMMONIUM_ION;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_CAMP;GO_CELLULAR_RESPONSE_TO_CAMP;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_RESPONSE_TO_MONOAMINE;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_NEURON_PROJECTION_TERMINUS;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_AXON_PART;GO_DENDRITE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CAMP_BINDING;GO_CYCLIC_NUCLEOTIDE_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_SODIUM_CHANNEL_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	Strong cytoplasmic and membranous positivity was observed in the crypts of the intestinal tract and in a subset of cells in prostate gland. The striated muscle cells, thyroid, breast and Leydig cells showed moderate cytoplasmic staining. Neuronal cells exhibited moderate nucleolar positivity. The remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000143630-HCN3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	liver: 4.9	.	.	.
H	1	155642342	rs542415102	G	T	222	PASS	YY1AP1	YY1 associated protein 1	splicing	NM_001198899,NM_001198900,NM_001198901,NM_001198902,NM_001198903,NM_001198904,NM_001198905,NM_001198906,NM_018253,NM_139118,NM_139119,NM_139121	NM_001198899:exon4:c.550+9C>A;NM_001198900:exon6:c.550+9C>A;NM_001198901:exon6:c.583+9C>A;NM_001198902:exon6:c.583+9C>A;NM_001198903:exon6:c.997+9C>A;NM_001198904:exon6:c.997+9C>A;NM_001198905:exon7:c.583+9C>A;NM_001198906:exon7:c.781+9C>A;NM_018253:exon8:c.550+9C>A;NM_139118:exon7:c.781+9C>A;NM_139119:exon7:c.583+9C>A;NM_139121:exon7:c.385+9C>A	.	.	ENST00000476093.5,ENST00000295566.8,ENST00000368330.6,ENST00000477470.1,ENST00000405763.7,ENSG00000163374.19,ENST00000436865.5,ENST00000493625.5,ENST00000496324.5,ENST00000443231.5,ENST00000361831.9,ENST00000311573.9,ENST00000404643.5,ENST00000368340.9,ENST00000368339.9,ENST00000347088.9,ENST00000488784.5,ENST00000354691.9,ENST00000407221.5,ENST00000359205.9,ENST00000361140.8,ENST00000355499.8	.	1q22	.	.	.	.	.	rs542415102	.	.	0.00166113	0.001	0.000199681	.	0.00001249	240112	0.00017733	16918	0.00019433	.	.	0.0620	.	.	.	.	.	.	.	.	.	0.731	0.470	1.836045,15.20	2.5	.	VDB=0.451608;SGB=-0.693079;RPB=0.963246;MQB=0.839408;MQSB=0.534134;BQB=0.928707;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=77;DP4=28,3,24,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:31:.:.	0/1:60:255,0,255:31,29	G	T	0	1	Grange syndrome, 602531 (3), Autosomal recessive	.	.	.	9489789|27939641|16545939|16691574|11710830|11241488	GO_REGULATION_OF_CELL_CYCLE	.	.	.	.	.	.	Ciliated cells of bronchus and fallopian tube were strongly stained. Strong cytoplasmic and membranous staining was displayed in renal tubules, peripheral nerve, endothelial cells and subset of Purkinje cells. Lymphoid tissues, mesenchymal cells and squamous epithelial cells were mostly negative. Remaining normal cells showed weak to moderate cytoplasmic and often membranous positivity.	http://www.proteinatlas.org/ENSG00000163374-YY1AP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 56.8	.	.	PM2, PP3
L	1	155658184	rs184679972	C	A	222	PASS	YY1AP1	YY1 associated protein 1	exonic	NM_001198903,NM_001198904	.	synonymous SNV	YY1AP1:NM_001198903:exon1:c.G72T:p.V24V,YY1AP1:NM_001198904:exon1:c.G72T:p.V24V	ENST00000476093.5,ENST00000295566.8,ENST00000368330.6,ENST00000479076.1,ENST00000454523.5,ENST00000405763.7,ENSG00000163374.19,ENST00000436865.5,ENST00000471214.5,ENST00000476027.5,ENST00000443231.5,ENST00000361831.9,ENST00000404643.5,ENST00000368340.9,ENST00000368339.9,ENST00000471642.6,ENST00000461479.1,ENST00000347088.9,ENST00000354691.9,ENST00000407221.5,ENST00000359205.9,ENST00000361140.8,ENSG00000132676.15,ENST00000355499.8	CpG: 128	1q22	.	.	.	Score=0.945187;Name=chr1:155528928	.	rs184679972	.	.	0.0348837	0.0268	0.00539137	.	0.00294275	171948	0.04315374	11656	0.02837155	0.02992958	.	-0.8758	.	.	.	.	.	.	.	.	.	-0.188	0.361	1.099668,11.21	.	.	VDB=0.0664915;SGB=-0.693127;RPB=0.869225;MQB=0.074913;MQSB=0.955566;BQB=0.624334;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=95;DP4=21,16,18,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:55:.:.	0/0:52:.:.	0/0:50:.:.	0/0:40:.:.	0/0:32:.:.	0/0:50:.:.	0/1:70:255,0,255:37,33	C	A	0	1	Grange syndrome, 602531 (3), Autosomal recessive	.	.	.	9489789|27939641|16545939|16691574|11710830|11241488	GO_REGULATION_OF_CELL_CYCLE	.	.	.	.	.	.	Ciliated cells of bronchus and fallopian tube were strongly stained. Strong cytoplasmic and membranous staining was displayed in renal tubules, peripheral nerve, endothelial cells and subset of Purkinje cells. Lymphoid tissues, mesenchymal cells and squamous epithelial cells were mostly negative. Remaining normal cells showed weak to moderate cytoplasmic and often membranous positivity.	http://www.proteinatlas.org/ENSG00000163374-YY1AP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 56.8	.	.	BP7
H	1	155990670	.	C	G	222	PASS	SSR2	Signal sequence receptor, beta	splicing	NM_003145	NM_003145:exon1:UTR5	.	.	ENST00000480176.5,ENST00000526212.2,ENST00000484320.6,ENST00000368311.5,ENSG00000163479.13,ENST00000474377.5,ENST00000480567.5,ENST00000466905.4,ENST00000529008.5,ENST00000295702.8,ENST00000472898.5,ENST00000473699.5,ENST00000496742.5,ENST00000532074.5,ENST00000531790.5	CpG: 33	1q22	.	.	.	.	.	.	.	.	.	.	.	.	0.00000689	145084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.933	-2.837	.	.	.	VDB=0.0665647;SGB=-0.693132;RPB=0.608334;MQB=3.22182e-06;MQSB=0.23305;BQB=0.938121;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=76;DP4=30,3,27,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:32:.:.	0/0:50:.:.	0/1:67:255,0,255:33,34	C	G	0	1	Signal sequence receptor, beta, 600867	.	.	.	7789174	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_METABOLISM_OF_PROTEINS	.	http://www.proteinatlas.org/ENSG00000163479-SSR2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 277.6	.	.	PM2
H	1	157667667	rs140651912	T	C	222	PASS	FCRL3	.	exonic	NM_001320333,NM_052939	.	missense SNV	FCRL3:NM_001320333:exon5:c.A341G:p.D114G,FCRL3:NM_052939:exon5:c.A341G:p.D114G	ENST00000480682.5,ENST00000496769.1,ENSG00000160856.20,ENST00000477837.5,ENST00000368186.9,ENST00000485028.5,ENST00000473231.5,ENST00000494724.5,ENST00000492769.5,ENST00000368184.7,ENST00000478179.1	.	1q23.1	.	.	.	.	.	rs140651912	.	.	0.0149502	0.0208	0.00419329	7.7e-05	0.00046974	276750	0.00652451	18852	0.00680140	0.00704225	.	-0.8767	Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like fold	0.001,D	0.951,D	0.998,D	0.867975,N	0.002777,U	2.97,M	5.73,T	13.4494	2.279	2.259	4.351070,24.1	5.41	.	VDB=0.00770418;SGB=-0.690438;RPB=0.503277;MQB=7.69399e-05;MQSB=0.929991;BQB=0.916147;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=38;DP4=4,9,8,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:30:255,0,252:13,17	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic and nuclear expression in lymphoid tissues.	http://www.proteinatlas.org/ENSG00000160856-FCRL3/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	urinary bladder: 2.3	.	.	PM1
H	1	157771855	rs142278474	C	T	222	PASS	FCRL1	Fc receptor-like protein 1	exonic	NM_001159397,NM_001159398,NM_052938	.	missense SNV	FCRL1:NM_001159397:exon5:c.G736A:p.D246N,FCRL1:NM_001159398:exon5:c.G736A:p.D246N,FCRL1:NM_052938:exon5:c.G736A:p.D246N	ENST00000368176.7,ENST00000489998.5,ENST00000368175.7,ENSG00000163534.14,ENST00000358292.7,ENST00000491942.1	.	1q23.1	.	.	.	.	.	rs142278474	.	.	0.0166113	0.0208	0.00419329	.	0.00048784	276732	0.00689070	18866	0.00680140	0.00616197	.	1.2722	Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like fold	0.475,T	0.283,B	0.808,P	1,N	0.558879,N	0.845,L	3.98,T	7.5547	-0.152	-0.337	.	.	.	VDB=0.0887154;SGB=-0.693147;RPB=0.98908;MQB=5.58007e-24;MQSB=0.995337;BQB=0.997934;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=235;DP4=58,39,51,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:183:255,0,255:97,86	C	T	0	1	Fc receptor-like protein 1, 606508	.	.	.	11493702	.	.	.	.	.	.	.	The majority of normal tissues were negative.	http://www.proteinatlas.org/ENSG00000163534-FCRL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 9.1	.	.	PM1
L	1	158450142	rs117155388	C	T	222	PASS	OR10R2	.	exonic	NM_001004472	.	stopgain	OR10R2:NM_001004472:exon1:c.C475T:p.Q159X	ENSG00000198965.3,ENST00000426251.1,ENSG00000236656.1,ENST00000419738.1,ENST00000368152.1	.	1q23.1	.	.	.	.	.	rs117155388	.	.	0.0232558	0.0179	0.0123802	0.0018	0.01311759	276804	0.02537155	18840	0.02584532	0.02728873	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	1,D	.	.	.	12.77	0.088	-3.396	8.102734,35	.	.	VDB=0.0308647;SGB=-0.693147;RPB=0.998697;MQB=8.72847e-14;MQSB=0.703913;BQB=0.991881;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=405;DP4=94,70,89,64;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:51:.:.	0/1:114:255,0,255:54,60	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:83:255,0,255:42,41	0/0:100:.:.	0/1:120:255,0,255:68,52	C	T	0	3	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	Ubiquitous cytoplasmic expression	http://www.proteinatlas.org/ENSG00000198965-OR10R2/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1
M	1	160062408	rs532334551	T	C	222	PASS	IGSF8	Immunoglobulin superfamily, member 8	exonic	NM_001206665,NM_001320247,NM_052868	.	missense SNV	IGSF8:NM_001320247:exon5:c.A1390G:p.I464V,IGSF8:NM_052868:exon5:c.A1390G:p.I464V,IGSF8:NM_001206665:exon6:c.A1390G:p.I464V	ENSG00000162729.13,ENST00000368086.5,ENST00000614243.4,ENST00000314485.11	.	1q23.2	.	.	.	.	.	rs532334551	.	.	0.00166113	0.002	0.000399361	.	0.00015408	266094	0.00213607	18726	0.00194326	.	.	0.0080	Immunoglobulin subtype;Immunoglobulin-like fold	1.0,T	0.008,B	0.009,B	0.991326,N	0.093014,U	0.19,N	2.16,T	4.2597	1.210	0.743	.	2.98	0.00302633442831	VDB=0.923376;SGB=-0.693147;RPB=0.994218;MQB=8.01876e-17;MQSB=0.999996;BQB=0.0882448;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=164;DP4=37,20,35,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:101:.:.	0/0:50:.:.	0/0:60:.:.	0/0:57:.:.	0/1:116:255,0,255:57,59	T	C	0	1	Immunoglobulin superfamily, member 8, 606644	.	.	.	11673522|11504738	GO_SINGLE_FERTILIZATION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_SEXUAL_REPRODUCTION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CELL_PROLIFERATION;GO_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_FERTILIZATION;GO_REPRODUCTION;GO_TISSUE_DEVELOPMENT	.	.	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY	.	.	Normal tissues were in general unstained. Lung macrophages and neuropil were distinctly stained.	http://www.proteinatlas.org/ENSG00000162729-IGSF8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 47.7	.	.	BP4, PM1, PM2
H-	1	160141525	rs79938119	A	G	222	PASS	ATP1A4	ATPase, Na+/K+ transporting, alpha-4 polypeptide	exonic	NM_144699	.	missense SNV	ATP1A4:NM_144699:exon12:c.A1832G:p.K611R	ENST00000469023.5,ENST00000368081.8,ENSG00000132681.16,ENST00000418334.5,ENST00000477338.5	.	1q23.2	.	.	.	.	.	rs79938119	.	.	0.0249169	0.0248	0.0061901	.	0.00409966	277096	0.03449921	18870	0.04158570	0.04850088	.	-0.1872	HAD-like domain;P-type ATPase,  transmembrane domain	0.001,D	0.934,D	0.951,P	0.999507,D	0.000000,D	0.945,L	-3.83,D	8.4782	0.758	7.313	3.580142,23.2	3.05	.	VDB=0.26135;SGB=-0.69311;RPB=0.786824;MQB=2.80903e-09;MQSB=0.43918;BQB=0.929531;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=267;DP4=58,42,56,33;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:61:255,0,255:30,31	0/0:50:.:.	0/1:56:255,0,255:32,24	0/0:50:.:.	0/1:72:255,0,255:38,34	A	G	0	3	ATPase, Na+/K+ transporting, alpha-4 polypeptide, 607321	.	.	.	1981991|21187400|12119109|7809153|3035563|10764792|10227850	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT;GO_CHEMICAL_HOMEOSTASIS;GO_SODIUM_ION_EXPORT;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_POTASSIUM_ION_HOMEOSTASIS;GO_REGULATION_OF_HEART_CONTRACTION;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_MALE_GAMETE_GENERATION;GO_SPERM_MOTILITY;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_CELL_MOTILITY;GO_SEXUAL_REPRODUCTION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_POTASSIUM_ION_HOMEOSTASIS;GO_CELLULAR_SODIUM_ION_HOMEOSTASIS;GO_LOCOMOTION;GO_SODIUM_ION_HOMEOSTASIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_PH;GO_POTASSIUM_ION_IMPORT;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_FERTILIZATION;GO_ATP_HYDROLYSIS_COUPLED_TRANSMEMBRANE_TRANSPORT;GO_HYDROGEN_TRANSPORT;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CELLULAR_PH;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT;GO_HYDROGEN_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION	GO_CATION_TRANSPORTING_ATPASE_COMPLEX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ATPASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_SODIUM_POTASSIUM_EXCHANGING_ATPASE_COMPLEX;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POTASSIUM_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION;KEGG_PROXIMAL_TUBULE_BICARBONATE_RECLAMATION	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	.	http://www.proteinatlas.org/ENSG00000132681-ATP1A4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	spleen: 0.8	.	.	BS1, PM1, PP3
L	1	160851055	rs61734482	G	A	222	PASS	ITLN1	Intelectin 1	exonic	NM_017625	.	synonymous SNV	ITLN1:NM_017625:exon5:c.C453T:p.H151H	ENST00000487531.1,ENST00000464077.1,ENSG00000179914.4,ENST00000326245.3	.	1q23.3	.	.	Score=924;Name=V$HAND1E47_01	.	.	rs61734482	.	.	0.00166113	0.001	0.0141773	0.0131	0.00382027	274326	0.00074762	18726	0.00194326	0.00088028	.	0.2396	.	.	.	.	.	.	.	.	.	-1.867	-0.133	.	.	.	VDB=0.0217176;SGB=-0.693147;RPB=0.97609;MQB=7.17206e-17;MQSB=0.712508;BQB=0.747738;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=156;DP4=16,48,18,42;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:52:.:.	0/0:100:.:.	0/1:124:255,0,255:64,60	G	A	0	1	Intelectin 1, 609873	.	.	.	11181563|11747454|11313366	GO_REGULATION_OF_GLUCOSE_IMPORT;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GLUCOSE_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	GO_CELL_PROJECTION_MEMBRANE;GO_BRUSH_BORDER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_MEMBRANE_MICRODOMAIN;GO_RECEPTOR_COMPLEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_MEMBRANE_REGION;GO_BRUSH_BORDER_MEMBRANE;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_CARBOHYDRATE_BINDING	.	.	.	.	Selective cytoplasmic expression in intestinal goblet cells.	http://www.proteinatlas.org/ENSG00000179914-ITLN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 290.3	.	.	BP7
H	1	162367072	rs764742025	A	G	222	PASS	SH2D1B	SH2 domain-containing 1B	exonic	NM_053282	.	stoploss	SH2D1B:NM_053282:exon4:c.T397C:p.X133R	ENSG00000198574.5,ENST00000367929.2	.	1q23.3	.	.	.	.	.	rs764742025	.	.	.	.	.	.	0.00007237	276372	0.00105988	18870	0.00038865	.	.	.	.	.	.	.	1,N	.	.	.	10.1798	1.960	2.714	2.571383,19.92	4.38	.	VDB=0.38248;SGB=-0.689466;RPB=0.972961;MQB=0.0730889;MQSB=0.945094;BQB=0.791193;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=46;DP4=15,2,10,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:28:.:.	0/0:30:.:.	0/1:33:255,0,255:17,16	A	G	0	1	SH2 domain-containing 1B, 608510	.	.	.	11689425|26432891|12115647|9000139	GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_DEFENSE_RESPONSE;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY	.	GO_BINDING_BRIDGING	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	.	Most normal tissues displayed moderate cytoplasmic and membranous positivity. Subset cells of gastro intestinal tract and glandular cells of uterine showed strong positivity. Liver, trophoblastic cells, prostate, lymphoid tissues and glial cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000198574-SH2D1B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 2.4	.	.	PM2, PM4
H	1	169446848	.	C	T	222	PASS	SLC19A2	Solute carrier family 19 (thiamine transporter), member 2	exonic	NM_006996	.	missense SNV	SLC19A2:NM_006996:exon2:c.G352A:p.A118T	ENSG00000117479.12,ENST00000367804.4,ENST00000236137.9	.	1q24.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000407	245890	0.00005798	17248	.	.	.	0.0263	Major facilitator superfamily domain	0.279,T	0.241,B	0.592,P	1,D	0.000111,D	1.005,L	-1.75,D	18.2106	2.532	3.888	4.900451,24.9	4.87	0.044164372753	VDB=0.763751;SGB=-0.692831;RPB=0.960335;MQB=5.49807e-09;MQSB=0.307133;BQB=0.979822;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=23,5,13,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:43:.:.	0/0:47:.:.	0/0:50:.:.	0/0:36:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:52:255,0,255:28,24	C	T	0	1	Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive	.	.	.	10391223|10542220|10391222|10391221|14994241|16642288|9399900|12393806|10874303|19879271|10978358|12454006|21868632	GO_ION_TRANSPORT;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_AMIDE_TRANSPORT;GO_MODIFIED_AMINO_ACID_TRANSPORT;GO_COFACTOR_TRANSPORT;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_ACID_TRANSPORT;GO_ANION_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_AMINO_ACID_TRANSPORT;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_ORGANIC_ANION_TRANSPORT;GO_SULFUR_COMPOUND_TRANSPORT;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DICARBOXYLIC_ACID_TRANSPORT;GO_VITAMIN_TRANSPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORT;GO_VITAMIN_METABOLIC_PROCESS;GO_TRANSMEMBRANE_TRANSPORT;GO_AZOLE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_COFACTOR_TRANSPORTER_ACTIVITY;GO_VITAMIN_TRANSPORTER_ACTIVITY;GO_SULFUR_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_DRUG_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	Ubiquitous cytoplasmic expression. The annotation is based on antibodies recognizing different splice variants.	http://www.proteinatlas.org/ENSG00000117479-SLC19A2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 29.1	cytoplasm; golgi apparatus; vesicles; nucleus	.	PM1, PM2
H	1	169497194	rs182566496	C	A	222	PASS	F5	Coagulation factor V (proaccelerin, labile factor)	exonic	NM_000130	.	missense SNV	F5:NM_000130:exon17:c.G5558T:p.G1853V	ENST00000367796.3,ENST00000367797.7,ENSG00000198734.10	.	1q24.2	.	.	.	.	.	rs182566496	Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance;Thrombophilia_due_to_activated_protein_C_resistance|Budd-Chiari_syndrome|Thrombophilia|Factor_V_deficiency;RCV000279701.1|RCV000334644.1|RCV000338299.1|RCV000401687.1;MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT;C1861171:188055|C0856761:600880:ORPHA131:82385007|C0398623:188050:234467004|C0015499:227400:ORPHA326:4320005	.	0.0149502	0.0149	0.00299521	.	0.00123993	276628	0.01763331	18828	0.01748931	0.01496479	.	-0.8560	Cupredoxin	0.27,T	0.334,B	0.615,P	0.999966,N	0.015177,N	2.5,M	-5.02,D	12.9293	2.384	2.562	5.037201,25.2	5.13	.	VDB=0.536288;SGB=-0.693143;RPB=0.629256;MQB=5.43073e-12;MQSB=0.729396;BQB=0.489657;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=29,7,29,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:36,38	C	A	0	1	{Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; Factor V deficiency, 227400 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant	.	.	.	8302325|7803250|8164741|8566967|8616100|15534175|9375735|10444192|9759618|10942390|9454741|1567832|11110695|8900278|3175767|9518910|10477778|12393490|14673478|10666427|7910348|9415695|9576178|9157576|10328130|9339109|14976157|9028947|8652809|8611679|3110773|14996674|3092220|2827731|15638861|8049422|9734642|9746807|9459326|11686338|10586886|9245936|8164730|12393635|11018168|10348711|14617013|7877648|7586244|14695241|9372726|9488630|6480825|11564077|11435304|7911872|3220473|8822583|9454742|10494770|8735145|16493002	GO_CIRCULATORY_SYSTEM_PROCESS;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_VESICLE_ORGANIZATION;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_VESICLE_TARGETING;GO_CELL_ACTIVATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_BUDDING;GO_WOUND_HEALING;GO_SECRETION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MEMBRANE_BUDDING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_VESICLE_COATING;GO_SYSTEM_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_EXOCYTOSIS;GO_PLATELET_DEGRANULATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_HEMOSTASIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_ER_TO_GOLGI_TRANSPORT_VESICLE;GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_COATED_VESICLE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_ENDOPLASMIC_RETICULUM	GO_COPPER_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Cytoplasmic expression and extracellular positivity in several different tissue types.	http://www.proteinatlas.org/ENSG00000198734-F5/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	stomach: 4.2	golgi apparatus	.	BS2, PM1
L	1	169697013	rs187194847	A	G	222	PASS	SELE	Selectin E (endothelial leukocyte adhesion molecule-1)	exonic	NM_000450	.	synonymous SNV	SELE:NM_000450:exon9:c.T1335C:p.H445H	ENSG00000007908.15,ENST00000367774.1,ENSG00000000460.16,ENST00000367777.5,ENST00000367776.5,ENST00000498289.5,ENST00000333360.11,ENST00000367775.5	.	1q24.2	.	.	.	.	.	rs187194847	.	.	0.0199336	0.0129	0.00259585	.	0.00123207	276770	0.01644562	18850	0.02759425	0.02992958	.	-3.1385	.	.	.	.	.	.	.	.	.	-0.328	-0.246	.	.	.	VDB=0.145128;SGB=-0.693146;RPB=0.993379;MQB=5.99868e-13;MQSB=0.670684;BQB=0.347807;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=112;DP4=29,7,34,8;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:59:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:78:255,0,255:36,42	A	G	0	1	[Blood pressure regulation QTL], 145500 (2), Multifactorial	.	.	.	1717161|2466335|17236131|1703529|10419878|12391189|16982754|12189250|12624727|16282702|20147318|12421968|11828340|11231628|1694218|7533025|11168027	GO_POSITIVE_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_ACTIVATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CALCIUM_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_CELLULAR_EXTRAVASATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_RESPONSE_TO_INTERLEUKIN_1;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_POSITIVE_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_LEUKOCYTE_ADHESION_TO_VASCULAR_ENDOTHELIAL_CELL;GO_REGULATION_OF_ENDOCYTOSIS;GO_HETEROPHILIC_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_LIPASE_ACTIVITY;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_RESPONSE_TO_CYTOKINE;GO_LEUKOCYTE_MIGRATION_INVOLVED_IN_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN	GO_CYTOPLASMIC_REGION;GO_COATED_PIT;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETON;GO_EXTRACELLULAR_SPACE;GO_MEMBRANE_MICRODOMAIN;GO_CELL_CORTEX;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION;GO_PLASMA_MEMBRANE_RAFT	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CARBOHYDRATE_BINDING;GO_PHOSPHOLIPASE_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_ORGANIC_ACID_BINDING;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_TXA2PATHWAY;PID_REG_GR_PATHWAY;PID_ATF2_PATHWAY	BIOCARTA_MONOCYTE_PATHWAY	.	Cytoplasmic expression in vessels and megakaryocytes in bone marrow.	http://www.proteinatlas.org/ENSG00000007908-SELE/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	smooth muscle: 15.7	.	.	BP7
M	1	171086497	.	T	A	222	PASS	FMO3	Flavin-containing monooxygenase 3	exonic	NM_001002294,NM_001319173,NM_001319174,NM_006894	.	missense SNV	FMO3:NM_001319174:exon8:c.T1325A:p.L442H,FMO3:NM_001002294:exon9:c.T1514A:p.L505H,FMO3:NM_006894:exon9:c.T1514A:p.L505H,FMO3:NM_001319173:exon10:c.T1454A:p.L485H	ENSG00000007933.12,ENST00000367755.8	.	1q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19,T	0.021,B	0.028,B	1,N	0.753921,N	0.295,N	0.57,T	1.1624	0.361	0.609	.	.	0.0085566297523	VDB=0.090743;SGB=-0.692914;RPB=0.939332;MQB=1.03418e-09;MQSB=0.569106;BQB=0.540291;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=73;DP4=9,23,11,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:51:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:51:.:.	0/1:57:255,0,255:32,25	T	A	0	1	Trimethylaminuria, 602079 (3), Autosomal recessive	.	.	.	10338091|10479479|12228178|9207220|987532|8654418|9398858|11191884|9417913|11266081|12938085|11809920|15922018|1542660|10376762|7720101|18423897|8486388|9536088|12893987|2203193|10485731	GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_OXIDATION_REDUCTION_PROCESS;GO_DRUG_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_AMINO_ACID_BINDING;GO_MONOOXYGENASE_ACTIVITY;GO_ORGANIC_ACID_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_NADP_BINDING;GO_COFACTOR_BINDING;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_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;GO_COENZYME_BINDING	KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	Selective cytoplasmic expression mainly in hepatocytes, also expressed in trophoblastic, endothelial and salivary ductal cells.	http://www.proteinatlas.org/ENSG00000007933-FMO3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 13.3	nucleus but not nucleoli; cytoplasm; cytoskeleton (actin filaments)	.	BP4, PM2, PP2
H	1	179497570	.	T	G	20.7013	PASS	AXDND1	.	splicing	NM_144696	NM_144696:exon23:c.2715+4T>G	.	.	ENST00000367618.7,ENST00000511157.5,ENSG00000162779.21,ENST00000484883.1,ENST00000617277.4,ENST00000434088.1	.	1q25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019440	.	0.0001,0.006	0.1246	.	.	.	.	.	.	.	.	.	0.666	0.051	1.520042,13.42	.	.	VDB=0.116872;SGB=-0.590765;RPB=0.574404;MQB=0.00439069;MQSB=0.0711221;BQB=0.0750345;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=39;DP4=14,6,0,5;MinDP=10;AN=16;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	./.:.:.:.	0/0:10:.:.	0/0:10:.:.	0/1:25:56,0,255:20,5	T	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Selective expression in seminiferus ducts of testis and in cilia of fallopian tube and respiratory epithelia.	http://www.proteinatlas.org/ENSG00000162779-AXDND1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 0.2	.	.	PM2
H	1	179497572	rs765480603	T	G	39.5838	PASS	AXDND1	.	splicing	NM_144696	NM_144696:exon23:c.2715+6T>G	.	.	ENST00000367618.7,ENST00000511157.5,ENSG00000162779.21,ENST00000484883.1,ENST00000617277.4,ENST00000434088.1	.	1q25.2	.	.	.	.	.	rs765480603	.	.	.	.	.	.	0.00000815	245486	.	.	.	.	0.1378,0.444	-1.8600	.	.	.	.	.	.	.	.	.	1.807	3.102	1.637322,14.06	4.01	.	VDB=0.00398637;SGB=-0.616816;RPB=0.127292;MQB=0.0588165;MQSB=0.525788;BQB=0.0540806;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=70;DP4=23,14,0,12;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:23:74,0,255:17,6	0/0:10:.:.	0/0:10:.:.	0/1:26:74,0,255:20,6	T	G	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Selective expression in seminiferus ducts of testis and in cilia of fallopian tube and respiratory epithelia.	http://www.proteinatlas.org/ENSG00000162779-AXDND1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 0.2	.	.	PM2
L	1	180063526	rs148294536	T	C	222	PASS	CEP350	.	exonic	NM_014810	.	synonymous SNV	CEP350:NM_014810:exon34:c.T8286C:p.F2762F	ENSG00000135837.15,ENST00000367607.7,ENST00000490141.5,ENST00000429851.5,ENST00000417046.1	.	1q25.2	.	.	.	.	.	rs148294536	.	.	0.0215947	0.0169	0.00419329	0.0004	0.00354500	276728	0.02160756	18836	0.02681695	0.02552817	.	0.0067	.	.	.	.	1,D	.	.	.	8.5104	0.452	2.598	.	3.12	.	VDB=0.254758;SGB=-0.692067;RPB=0.935497;MQB=8.07234e-05;MQSB=0.530388;BQB=0.964076;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=106;DP4=33,10,27,18;MinDP=18;AN=18;AC=2	GT:DP:PL:AD	0/0:18:.:.	0/0:31:.:.	0/0:32:.:.	0/0:30:.:.	0/0:31:.:.	0/1:40:255,0,255:20,20	0/0:31:.:.	0/0:50:.:.	0/1:48:255,0,255:23,25	T	C	0	2	.	.	.	.	.	GO_MICROTUBULE_ANCHORING;GO_CYTOSKELETON_ORGANIZATION;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000135837-CEP350/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 20.2	centrosome; nucleus but not nucleoli	.	.
H	1	181764046	rs764017933	G	A	222	PASS	CACNA1E	Calcium channel, voltage-dependent, alpha 1E subunit	exonic	NM_000721,NM_001205293,NM_001205294	.	missense SNV	CACNA1E:NM_001205294:exon44:c.G5888A:p.R1963Q,CACNA1E:NM_000721:exon45:c.G5945A:p.R1982Q,CACNA1E:NM_001205293:exon46:c.G6074A:p.R2025Q	ENST00000367573.6,ENST00000360108.7,ENST00000621791.4,ENST00000367567.8,ENST00000357570.9,ENST00000621551.3,ENST00000367570.5,ENST00000358338.7,ENSG00000198216.10	.	1q25.3	.	.	Score=850;Name=V$GATA1_02	.	.	rs764017933	.	.	.	.	.	.	0.00001625	246092	.	.	.	.	.	-0.2852	.	0.339,T	0.283,B	0.942,P	0.736537,D	0.923924,N	1.39,L	-3.84,D	15.3878	2.793	4.185	5.794066,27.1	5.91	0.0205109943939	VDB=0.752402;SGB=-0.693141;RPB=0.827348;MQB=1.71057e-05;MQSB=0.858683;BQB=0.994538;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=88;DP4=28,3,32,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/1:68:255,0,255:31,37	G	A	0	1	Calcium channel, voltage-dependent, alpha 1E subunit, 601013	.	.	.	8825650|15630454|11735114|8071363|9656471	GO_ION_TRANSPORT;GO_MEMBRANE_DEPOLARIZATION;GO_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL;GO_METAL_ION_TRANSPORT;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_CALCIUM_ION_TRANSPORT;GO_SYNAPTIC_SIGNALING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_ACTION_POTENTIAL;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_CATION_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CALCIUM_CHANNEL_COMPLEX;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HIGH_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	.	.	http://www.proteinatlas.org/ENSG00000198216-CACNA1E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.7	.	.	PM2
L	1	183261977	.	G	T	222	PASS	NMNAT2	Nicotinamide nucleotide adenylyltransferase 2	exonic	NM_015039,NM_170706	.	synonymous SNV	NMNAT2:NM_015039:exon3:c.C190A:p.R64R,NMNAT2:NM_170706:exon3:c.C175A:p.R59R	ENST00000287713.6,ENSG00000157064.10,ENST00000294868.8	.	1q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00038865	0.00088028	.	-1.4721	.	.	.	.	.	.	.	.	.	2.438	3.163	1.816473,15.08	5.23	.	VDB=0.148427;SGB=-0.693147;RPB=0.948741;MQB=7.5987e-16;MQSB=0.256549;BQB=0.738534;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=158;DP4=39,26,25,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:80:.:.	0/0:100:.:.	0/0:100:.:.	0/1:115:255,0,255:65,50	G	T	0	1	Nicotinamide nucleotide adenylyltransferase 2, 608701	.	.	.	25271157|12359228|9455484|11318611|14516279|12574164	GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NAD_METABOLIC_PROCESS;GO_DICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_COENZYME_BIOSYNTHETIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ASPARTATE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ASPARTATE_METABOLIC_PROCESS;GO_NAD_BIOSYNTHETIC_PROCESS;GO_PYRIDINE_NUCLEOTIDE_BIOSYNTHETIC_PROCESS;GO_PYRIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_COFACTOR_BIOSYNTHETIC_PROCESS	GO_VACUOLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_SYNAPSE;GO_GOLGI_MEMBRANE;GO_LATE_ENDOSOME;GO_GOLGI_APPARATUS;GO_ENDOSOME;GO_ORGANELLE_SUBCOMPARTMENT	GO_ADENYLYLTRANSFERASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_NUCLEOTIDYLTRANSFERASE_ACTIVITY	KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	Normal tissues showed in general strong cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000157064-NMNAT2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	heart muscle: 9.4	.	.	PM2, PP3
L	1	183874046	rs116990062	C	T	222	PASS	RGL1	Ral guanine nucleotide dissociation stimulator-like 1	exonic	NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149	.	synonymous SNV	RGL1:NM_001297672:exon12:c.C1326T:p.T442T,RGL1:NM_001297670:exon13:c.C1407T:p.T469T,RGL1:NM_001297671:exon13:c.C1413T:p.T471T,RGL1:NM_001297669:exon14:c.C1407T:p.T469T,RGL1:NM_015149:exon14:c.C1518T:p.T506T	ENST00000304685.8,ENSG00000143344.15,ENST00000360851.3	.	1q25.3	.	.	.	.	.	rs116990062	.	.	0.0149502	0.0139	0.00279553	0.0002	0.00233343	276846	0.02958360	18828	0.02545667	0.01760563	.	-1.9548	.	.	.	.	.	.	.	.	.	0.215	-0.251	1.692499,14.37	.	.	VDB=0.728711;SGB=-0.690438;RPB=0.76719;MQB=0.000833117;MQSB=0.772881;BQB=0.22306;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=129;DP4=30,12,39,10;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:49:.:.	0/1:27:255,0,185:10,17	0/0:30:.:.	0/1:64:255,0,255:32,32	C	T	0	2	Ral guanine nucleotide dissociation stimulator-like 1, 605667	.	.	.	10231032|10760592	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR	.	.	.	.	Moderate cytoplasmic positivity was observed in most normal tissues. Gall bladder, prostate, Purkinje cells and myocytes of skeletal muscle were strongly stained. Squamous epithelia were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000143344-RGL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 37.7	nucleus but not nucleoli; golgi apparatus; vesicles	.	BP7
L	1	185094134	rs552294179	T	C	222	PASS	TRMT1L	.	exonic	NM_001202423,NM_030934	.	synonymous SNV	TRMT1L:NM_001202423:exon12:c.A1233G:p.S411S,TRMT1L:NM_030934:exon12:c.A1701G:p.S567S	ENST00000367506.9,ENST00000458395.1,ENSG00000121486.11	.	1q25.3	.	.	Score=819;Name=V$GFI1_01	.	.	rs552294179	.	.	0.00332226	0.002	0.000399361	.	0.00013728	276800	0.00201463	18862	0.00136028	.	.	0.2746	.	.	.	.	.	.	.	.	.	-0.006	0.632	.	.	.	VDB=0.0321252;SGB=-0.691153;RPB=0.919651;MQB=1.77314e-05;MQSB=0.990613;BQB=0.984733;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=56;DP4=15,5,14,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:27:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/1:38:255,0,255:20,18	T	C	0	1	.	.	.	.	.	GO_TRNA_METABOLIC_PROCESS;GO_RNA_METHYLATION;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_METHYLATION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_TRNA_PROCESSING;GO_BEHAVIOR;GO_TRNA_MODIFICATION	GO_MITOCHONDRION	GO_RNA_METHYLTRANSFERASE_ACTIVITY;GO_N_METHYLTRANSFERASE_ACTIVITY;GO_TRNA_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_TRNA_METHYLTRANSFERASE_ACTIVITY;GO_RNA_BINDING	.	.	.	.	Trophoblastic cells showed strong cytoplasmic staining while ovarian follicle cells displayed strong nuclear immunoreactivity. The gastrointestinal tract and decidual cells displayed moderate cytoplasmic staining while renal tubules, fallopian tube and oral mucosa showed moderate nuclear and cytoplasmic positivity. Remaining normal cells were in general weakly stained or negative.	http://www.proteinatlas.org/ENSG00000121486-TRMT1L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 24.0	nucleus; nucleoli; cytoplasm	.	BP7, PM2
H	1	185278199	rs146352011	C	T	222	PASS	IVNS1ABP	Influenza virus NS1A protein-binding protein	exonic	NM_006469	.	missense SNV	IVNS1ABP:NM_006469:exon4:c.G217A:p.V73I	ENST00000367498.7,ENSG00000116679.15,ENST00000459929.5,ENST00000367497.1	.	1q25.3	.	.	.	.	.	rs146352011	.	.	0.00332226	0.002	0.000399361	7.7e-05	0.00010495	276320	0.00074286	18846	0.00155461	0.00088028	.	-3.3623	BTB/POZ;BTB/POZ fold;BTB/POZ-like	0.175,T	0.896,P	0.999,D	1,D	0.000000,D	0.985,L	-0.05,T	19.774	2.679	5.973	3.436255,23.0	5.67	0.0143790916318	VDB=0.346753;SGB=-0.689466;RPB=0.999136;MQB=0.000294599;MQSB=0.765188;BQB=0.900729;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=36;DP4=3,11,8,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:30:255,0,247:14,16	C	T	0	1	Influenza virus NS1A protein-binding protein, 609209	.	.	.	10048485|12213805|9696811	GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_RNA_PROCESSING;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEATH;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RNA_SPLICING;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_VIRUS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_ACTIN_CYTOSKELETON;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_CYTOSKELETON;GO_SPLICEOSOMAL_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX	.	.	.	.	.	Weak to mdoerate cytoplasmic staining was observed in most normal tissues. Additional membranous positivity was observed in a few cases for example the intestine. Neuronal cells in CNS showed nuclear immunoreactivity. A subset of renal tubules were strongly stained. The liver was negative.	http://www.proteinatlas.org/ENSG00000116679-IVNS1ABP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 54.3	cytoplasm	.	PM1, PM2
L	1	186946722	rs12720687	T	C	214	PASS	PLA2G4A	Phospholipase A2, group IVA, cytosolic	splicing	NM_001311193,NM_024420	NM_001311193:exon14:c.1585-3T>C;NM_024420:exon16:c.1765-3T>C	.	.	ENSG00000116711.9,ENST00000367466.3	.	1q31.1	.	.	.	.	.	rs12720687	.	.	0.0282392	0.0347	0.0157748	0.0048	0.00707001	277086	0.05484829	18852	0.03905946	0.02992958	0.0002,0.004	0.5173	.	.	.	.	.	.	.	.	.	-1.537	-0.456	.	.	.	VDB=0.01298;SGB=-0.692914;RPB=0.704475;MQB=7.73142e-07;MQSB=0.566431;BQB=0.413277;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=50;DP4=17,1,22,3;MinDP=29;AN=18;AC=1	GT:DP:PL:AD	0/0:29:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:43:247,0,231:18,25	T	C	0	1	Phospholipase A2, group IV A, deficiency of (3)	.	.	.	18451993|14702420|8175726|10319815|12808451|12743172|12045263|16498630|2777750|8083230|1869522|11416127|7782073	GO_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING;GO_ION_TRANSPORT;GO_ALDITOL_PHOSPHATE_METABOLIC_PROCESS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_VESICLE_FUSION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS;GO_ACID_SECRETION;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_STEROID_HORMONE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_RESPONSE_TO_CORTICOSTEROID;GO_RESPONSE_TO_HEAT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_HEAT_GENERATION;GO_TISSUE_HOMEOSTASIS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_OVULATION_CYCLE;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_ORGANIC_ACID_TRANSPORT;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_METAL_ION;GO_POSITIVE_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_METHYLMERCURY;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_DECIDUALIZATION;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_SECRETION;GO_ANION_TRANSPORT;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AGING;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS_WITHIN_A_TISSUE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_AMINE_METABOLIC_PROCESS;GO_RESPONSE_TO_BACTERIUM;GO_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_OVULATION_CYCLE_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_RESPONSE_TO_HORMONE;GO_OVULATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_FEVER_GENERATION;GO_ETHANOLAMINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_FATTY_ACID_DERIVATIVE_TRANSPORT;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_FEMALE_SEX_DIFFERENTIATION;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_VITAMIN_D;GO_CELLULAR_RESPONSE_TO_ANTIBIOTIC;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_SEX_DIFFERENTIATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_GAMETE_GENERATION;GO_MATERNAL_PROCESS_INVOLVED_IN_FEMALE_PREGNANCY;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RHYTHMIC_PROCESS;GO_CARDIOLIPIN_METABOLIC_PROCESS;GO_FEMALE_GAMETE_GENERATION;GO_RESPONSE_TO_VITAMIN;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_RESPONSE_TO_LITHIUM_ION;GO_LIPID_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_PHOSPHATIDYLSERINE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_PHOSPHATIDYLGLYCEROL_ACYL_CHAIN_REMODELING;GO_RESPONSE_TO_ANTIBIOTIC;GO_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_PLACENTA_DEVELOPMENT;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_ARACHIDONATE_TRANSPORT;GO_LONG_CHAIN_FATTY_ACID_TRANSPORT;GO_PHOSPHOLIPID_CATABOLIC_PROCESS;GO_LIPID_LOCALIZATION;GO_FATTY_ACID_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REPRODUCTION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_PHOSPHATIDIC_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_TRANSPORT;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_NUTRIENT;GO_PHOSPHATIDYLETHANOLAMINE_ACYL_CHAIN_REMODELING;GO_MATERNAL_PLACENTA_DEVELOPMENT;GO_PHOSPHATIDYLCHOLINE_ACYL_CHAIN_REMODELING;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_RESPONSE_TO_ALCOHOL;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_ACYL_CHAIN_REMODELING;GO_TISSUE_DEVELOPMENT;GO_RESPONSE_TO_HYDROGEN_PEROXIDE;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_OSSIFICATION;GO_POSITIVE_REGULATION_OF_OSSIFICATION;GO_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES	GO_SECRETORY_GRANULE;GO_ZYMOGEN_GRANULE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SECRETORY_VESICLE;GO_ORGANELLE_INNER_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENVELOPE;GO_GOLGI_APPARATUS;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_LYSOPHOSPHOLIPASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHATIDYLCHOLINE_1_ACYLHYDROLASE_ACTIVITY;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_PHOSPHOLIPASE_A2_ACTIVITY;GO_ENZYME_BINDING;GO_LIPASE_ACTIVITY;GO_LIPID_BINDING;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_PHOSPHOLIPID_BINDING;GO_PHOSPHOLIPASE_ACTIVITY;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_ETHER_LIPID_METABOLISM;KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM;KEGG_ALPHA_LINOLENIC_ACID_METABOLISM;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_LONG_TERM_DEPRESSION;KEGG_GNRH_SIGNALING_PATHWAY	PID_FCER1_PATHWAY;PID_ENDOTHELIN_PATHWAY;PID_PDGFRB_PATHWAY;PID_P38_ALPHA_BETA_DOWNSTREAM_PATHWAY	BIOCARTA_SPPA_PATHWAY;BIOCARTA_FCER1_PATHWAY;BIOCARTA_P38MAPK_PATHWAY	REACTOME_ACYL_CHAIN_REMODELLING_OF_PI;REACTOME_ACYL_CHAIN_REMODELLING_OF_PC;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PA;REACTOME_ACYL_CHAIN_REMODELLING_OF_PG;REACTOME_ACYL_CHAIN_REMODELLING_OF_PE;REACTOME_ACYL_CHAIN_REMODELLING_OF_PS;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_SIGNALING_BY_GPCR;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000116711-PLA2G4A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 25.6	cytoplasm	.	BS1
H	1	197086932	rs755585801	G	A	181	PASS	ASPM	Abnormal spindle-like, microcephaly-associated	exonic	NM_001206846,NM_018136	.	missense SNV	ASPM:NM_001206846:exon17:c.C4052T:p.A1351V,ASPM:NM_018136:exon17:c.C4052T:p.A1351V	ENST00000367409.8,ENST00000294732.11,ENST00000367408.5,ENSG00000066279.17	.	1q31.3	.	.	.	.	.	rs755585801	.	.	.	.	.	.	0.00000816	244994	0.00011600	17242	0.00100942	.	.	-0.1511	IQ motif, EF-hand binding site;P-loop containing nucleoside triphosphate hydrolase	0.009,D	0.976,D	0.999,D	0.999881,D	0.000967,D	2.46,M	-0.01,T	12.0325	2.695	4.719	5.131996,25.4	5.72	0.051642420664	VDB=0.613071;SGB=-0.686358;RPB=0.919164;MQB=0.000524038;MQSB=0.934783;BQB=0.947483;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=33;DP4=10,1,13,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:25:214,0,209:11,14	G	A	0	1	Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive	.	.	.	12355089|14574646|16840683|20978018|18452193|15620360|14722158|16798874|16673149|17090670|15972725|15355437|16151010|17220170|19028728|19770472|20823249|19332161|22775483|16141009|17446375	GO_NEURONAL_STEM_CELL_DIVISION;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_CELL_DIVISION;GO_NEGATIVE_REGULATION_OF_CELL_DIVISION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_SPINDLE_LOCALIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_OOGENESIS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MALE_GAMETE_GENERATION;GO_REGULATION_OF_MEIOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEUROBLAST_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_FOREBRAIN_DEVELOPMENT;GO_STEM_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_FOREBRAIN_GENERATION_OF_NEURONS;GO_CELL_MOTILITY;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_STEM_CELL_DIVISION;GO_SEXUAL_REPRODUCTION;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ORGANELLE_FISSION;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_MAINTENANCE_OF_LOCATION;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_MITOTIC_NUCLEAR_DIVISION;GO_PALLIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEUROBLAST_PROLIFERATION;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_ORGANELLE_ASSEMBLY;GO_MAINTENANCE_OF_CELL_NUMBER;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_NEURON_MIGRATION;GO_NEUROGENESIS;GO_GROWTH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_HEAD_DEVELOPMENT;GO_NEURONAL_STEM_CELL_POPULATION_MAINTENANCE;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_MEIOTIC_CELL_CYCLE;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_SEX_DIFFERENTIATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_SOMATIC_STEM_CELL_DIVISION;GO_FEMALE_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_SPINDLE_ASSEMBLY;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_POSITIVE_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_GERM_CELL_DEVELOPMENT;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEUROBLAST_PROLIFERATION;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_CYCLE_PROCESS;GO_CENTROSOME_LOCALIZATION;GO_DEVELOPMENTAL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_MALE_SEX_DIFFERENTIATION;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS	GO_MICROTUBULE_CYTOSKELETON;GO_MITOTIC_SPINDLE;GO_SPINDLE_POLE;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_MIDBODY;GO_MICROTUBULE_END;GO_SUPRAMOLECULAR_FIBER;GO_SPINDLE	GO_CALMODULIN_BINDING	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic positivity. Pancreas, endometrium, cell in CNS and most lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000066279-ASPM/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 8.0	plasma membrane; cytoplasm	.	BP1, PM2, PP3
L	1	200776575	rs144271144	A	T	222	PASS	CAMSAP2	Calmodulin-regulated spectrin-associated protein 1-like 1	exonic	NM_001297707,NM_001297708,NM_203459	.	synonymous SNV	CAMSAP2:NM_001297707:exon3:c.A471T:p.V157V,CAMSAP2:NM_001297708:exon3:c.A471T:p.V157V,CAMSAP2:NM_203459:exon3:c.A471T:p.V157V	ENST00000413307.6,ENST00000358823.6,ENSG00000118200.14,ENST00000236925.8	.	1q32.1	.	.	Score=976;Name=V$EN1_01	.	.	rs144271144	.	.	0.00332226	0.002	0.000399361	.	0.00033616	276652	0.00477504	18848	0.00310921	0.00176056	.	-0.0490	.	.	.	.	.	.	.	.	.	-0.149	0.254	.	.	.	VDB=0.0894939;SGB=-0.693127;RPB=0.847833;MQB=1.25492e-07;MQSB=0.557095;BQB=0.937904;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=76;DP4=22,1,30,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:49:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:56:255,0,244:23,33	A	T	0	1	Calmodulin-regulated spectrin-associated protein 1-like 1, 613775	.	.	.	19508979|10470851	GO_NEURON_DEVELOPMENT;GO_CYTOSKELETON_ORGANIZATION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEUROGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_CALMODULIN_BINDING;GO_SPECTRIN_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Ubiquitous cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000118200-CAMSAP2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 33.4	cytoplasm; cytoskeleton (microtubule end)	.	BP7, PM2
M	1	202097067	.	G	A	222	PASS	GPR37L1	G protein-coupled receptor 37-like 1	exonic	NM_004767	.	missense SNV	GPR37L1:NM_004767:exon2:c.G829A:p.A277T	ENSG00000170075.8,ENST00000367282.5	.	1q32.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00001448	276300	0.00021209	18860	.	.	.	.	GPCR, rhodopsin-like, 7TM	0.317,T	0.001,B	0.0,B	1,N	0.024782,N	0,N	-0.61,T	1.3631	-0.030	0.080	.	.	0.0368736641282	VDB=0.00738031;SGB=-0.693147;RPB=0.473479;MQB=4.71977e-18;MQSB=0.770089;BQB=0.732393;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=187;DP4=57,22,56,14;MinDP=76;AN=18;AC=1	GT:DP:PL:AD	0/0:76:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:149:255,0,255:79,70	G	A	0	1	G protein-coupled receptor 37-like 1, 617630	.	.	.	27072655|28688853|24062445|25130661|23690594|9539149	GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_GLIOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ASTROCYTE_DIFFERENTIATION;GO_REGULATION_OF_ASTROCYTE_DIFFERENTIATION;GO_REGULATION_OF_HYDROGEN_PEROXIDE_INDUCED_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_CELL_DEATH;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_GLIOGENESIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES	GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_AMIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY	.	.	.	.	Selective cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000170075-GPR37L1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	colon: 0.3	.	.	PM1, PM2
H	1	203798686	rs151199762	C	T	222	PASS	ZC3H11A	Zinc finger CCCH domain-containing protein 11A	exonic	NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827	.	missense SNV	ZC3H11A:NM_001350264:exon6:c.C406T:p.R136W,ZC3H11A:NM_001350263:exon7:c.C406T:p.R136W,ZC3H11A:NM_001350265:exon7:c.C406T:p.R136W,ZC3H11A:NM_001319238:exon8:c.C406T:p.R136W,ZC3H11A:NM_001319239:exon8:c.C406T:p.R136W,ZC3H11A:NM_001350261:exon8:c.C406T:p.R136W,ZC3H11A:NM_001350262:exon8:c.C406T:p.R136W,ZC3H11A:NM_001350266:exon8:c.C406T:p.R136W,ZC3H11A:NM_014827:exon8:c.C406T:p.R136W	ENST00000640465.1,ENST00000495527.5,ENST00000367214.5,ENST00000545588.5,ENST00000639812.1,ENST00000638800.1,ENSG00000058673.16,ENSG00000257315.2,ENST00000332127.8,ENST00000453771.5,ENST00000480354.1,ENST00000550078.2,ENST00000367210.2,ENST00000367212.7	.	1q32.1	.	.	Score=954;Name=V$AP4_Q6	.	.	rs151199762	.	.	0.00498339	0.003	0.000599042	.	0.00022369	277174	0.00180199	18868	0.00194326	0.00176056	.	0.0143	.	0.061,T	0.055,B	0.296,B	0.999999,D	0.000000,D	1.79,L	0.52,T	15.4742	1.584	2.302	4.515721,24.3	4.95	0.0322455351436	VDB=0.454462;SGB=-0.693097;RPB=0.117476;MQB=0.00015682;MQSB=0.990588;BQB=0.862168;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=79;DP4=16,12,21,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:39:.:.	0/0:50:.:.	0/1:58:255,0,255:28,30	C	T	0	1	Zinc finger CCCH domain-containing protein 11A, 613513	.	.	.	9734811|20016685	GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_MRNA_PROCESSING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_RNA_PROCESSING;GO_POLY_A_MRNA_EXPORT_FROM_NUCLEUS;GO_NUCLEAR_TRANSPORT;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_LOCALIZATION;GO_MRNA_3_END_PROCESSING;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION;GO_MRNA_METABOLIC_PROCESS;GO_NUCLEAR_EXPORT;GO_RNA_3_END_PROCESSING;GO_RNA_LOCALIZATION	GO_TRANSCRIPTION_EXPORT_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	ubiquitous nuclear and cytoplasmic expression at variable levels, most abundant in decidual cells.	http://www.proteinatlas.org/ENSG00000058673-ZC3H11A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 50.1	nucleus but not nucleoli; plasma membrane; cytoskeleton (intermediate filaments)	.	PM2
L	1	204161947	rs12998	C	T	222	PASS	KISS1	KISS1 metastasis suppressor	exonic	NM_002256	.	missense SNV	KISS1:NM_002256:exon2:c.G58A:p.E20K	ENST00000367194.4,ENSG00000170498.8,ENST00000625357.1	.	1q32.1	.	.	Score=783;Name=V$SRF_C	.	.	rs12998	.	.	0.0215947	0.0238	0.0231629	0.0253	0.03250536	255404	0.03040910	18284	0.03711621	0.03609155	.	2.6276	.	0.014,D	0.372,B	0.732,P	0.999719,N	0.007372,N	1.975,M	-0.7,T	5.9641	0.369	2.265	4.084527,23.7	2.94	.	VDB=0.000356399;SGB=-0.692914;RPB=0.921707;MQB=3.18539e-08;MQSB=0.915803;BQB=0.558379;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=88;DP4=17,14,17,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:56:255,0,255:31,25	C	T	0	1	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive	.	Central precocious puberty, idiopathic(CM156681)	GAG-AAG|Glu20Lys|c.58G>A|p.E20K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=26015864&amp;dopt=Abstract)	26015864|17563351|16174713|15976058|8944003|9192814|15375028|15637288|11385580|15684075|20237166|15919741|22335740|8302587|9806840	GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_HORMONE_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_OVULATION_CYCLE;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_OVULATION_CYCLE_PROCESS;GO_REGULATION_OF_ENDOCRINE_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_GROWTH_HORMONE_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RHYTHMIC_PROCESS;GO_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REPRODUCTION;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_POSITIVE_REGULATION_OF_SECRETION;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_GONADOTROPIN_SECRETION;GO_POSITIVE_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION_INVOLVED_IN_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_NEURON_PROJECTION;GO_EXTRACELLULAR_SPACE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION	GO_NEUROPEPTIDE_RECEPTOR_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	Selective cytoplasmic expression in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000170498-KISS1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 0.6	.	.	BS1, PP2
L	1	205892231	rs145640643	C	T	222	PASS	SLC26A9	Solute carrier family 26 (sulfate transporter), member 9	exonic	NM_052934,NM_134325	.	synonymous SNV	SLC26A9:NM_052934:exon16:c.G1752A:p.R584R,SLC26A9:NM_134325:exon16:c.G1752A:p.R584R	ENSG00000174502.18,ENST00000340781.8,ENST00000491127.5,ENST00000367134.2,ENST00000367135.7	.	1q32.1	.	.	.	.	.	rs145640643	.	.	0.00332226	0.003	0.000599042	.	0.00010823	277190	0.00159016	18866	0.00077730	0.00088028	.	1.3760	.	.	.	.	.	.	.	.	.	-0.044	0.300	1.938706,15.83	.	.	VDB=0.0511912;SGB=-0.693079;RPB=0.866777;MQB=3.14738e-09;MQSB=0.764635;BQB=0.717943;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=18,10,22,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:57:255,0,255:28,29	C	T	0	1	Solute carrier family 26 (sulfate transporter), member 9, 608481	.	.	.	11834742	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_SULFATE_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_ORGANIC_ACID_TRANSPORT;GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CHLORIDE_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_BICARBONATE_TRANSPORT;GO_SULFUR_COMPOUND_TRANSPORT;GO_DICARBOXYLIC_ACID_TRANSPORT;GO_OXALATE_TRANSPORT;GO_REGULATION_OF_PH;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CELLULAR_PH;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT	GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SULFUR_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANTIPORTER_ACTIVITY;GO_ANION_CHANNEL_ACTIVITY;GO_ION_ANTIPORTER_ACTIVITY;GO_ATPASE_BINDING;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_BICARBONATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_ANION_ANTIPORTER_ACTIVITY;GO_DICARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	Luminal membranous and cytoplasmic expression in salivary and stomach glandular cells.	http://www.proteinatlas.org/ENSG00000174502-SLC26A9/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 6.1	.	.	BP7, PM2
L	1	207697213	.	G	C	138	PASS	CR1	Complement component (3b/4b) receptor-1	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon5:c.G745C:p.V249L,CR1:NM_000651:exon5:c.G745C:p.V249L	ENST00000400960.6,ENSG00000203710.10,ENST00000367049.8,ENST00000436595.1,ENST00000450439.5,ENST00000367053.5,ENST00000529814.1,ENST00000367052.5,ENST00000534202.5,ENST00000434033.5,ENST00000367051.5,ENST00000367050.8	.	1q32.2	.	.	.	Score=0.994828;Name=chr1:207715515	.	.	.	.	.	.	.	.	0.00000421	237342	0.00005909	16922	.	.	.	0.0268	Sushi/SCR/CCP domain	0.37,T	0.687,P	0.753,P	1,N	.	0.91,L	-0.11,T	4.2796	-0.542	-0.024	.	.	0.00527920236247	VDB=0.0230566;SGB=-0.688148;RPB=0.273957;MQB=0.984335;MQSB=0.723774;BQB=0.813917;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=57;DP4=21,17,3,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:49:.:.	0/1:53:171,0,255:38,15	G	C	0	1	[Blood group, Knops system], 607486 (3); CR1 deficiency (1); {Malaria, severe, resistance to}, 611162 (3); {?SLE susceptibility} (1)	.	.	.	14694201|6572933|6222138|6230413|16517720|6126949|2977721|3031685|6978375|11884446|6115248|2959289|11055075|16133175|13122009|3736743|3157763|9230440|11955431|20855594|17709521|3782802|2960763|4019777|3014040|7110302|2564414|2933745|10528197	GO_MOVEMENT_IN_ENVIRONMENT_OF_OTHER_ORGANISM_INVOLVED_IN_SYMBIOTIC_INTERACTION;GO_REGULATION_OF_PROTEIN_ACTIVATION_CASCADE;GO_PROTEIN_ACTIVATION_CASCADE;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_SERINE_TYPE_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_NEGATIVE_REGULATION_OF_SERINE_TYPE_PEPTIDASE_ACTIVITY;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_B_CELL_MEDIATED_IMMUNITY;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_COMPLEMENT_ACTIVATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_HUMORAL_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_ACTIVATION_CASCADE;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_B_CELL_MEDIATED_IMMUNITY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_INTERACTION_WITH_HOST;GO_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_LOCOMOTION;GO_VIRAL_LIFE_CYCLE;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_PROTEIN_MATURATION;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_NEGATIVE_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_HUMORAL_IMMUNE_RESPONSE_MEDIATED_BY_CIRCULATING_IMMUNOGLOBULIN;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MATURATION;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_IMMUNE_EFFECTOR_PROCESS	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_COMPLEMENT_BINDING;GO_VIRUS_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_OPSONIN_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	Highly selective expression in renal glomeruli and lymphatic tissues.	http://www.proteinatlas.org/ENSG00000203710-CR1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 13.3	.	.	PM1, PM2
L	1	214170820	rs117278964	G	C	222	PASS	PROX1	Prospero-related homeo box 1	exonic	NM_001270616,NM_002763	.	synonymous SNV	PROX1:NM_001270616:exon2:c.G942C:p.L314L,PROX1:NM_002763:exon2:c.G942C:p.L314L	ENST00000366958.8,ENST00000261454.8,ENSG00000117707.15,ENST00000435016.2,ENST00000498508.6	.	1q32.3	.	.	Score=765;Name=V$HOX13_01	.	.	rs117278964	.	.	0.0166113	0.0179	0.00399361	0.0002	0.00207089	277176	0.02597265	18866	0.02778857	0.01056338	.	-0.2268	.	.	.	.	.	.	.	.	.	-0.160	0.725	.	.	.	VDB=0.934955;SGB=-0.693147;RPB=0.69916;MQB=1.24839e-18;MQSB=0.63711;BQB=0.832271;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=300;DP4=88,43,73,35;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:130:255,0,255:68,62	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:109:255,0,255:63,46	G	C	0	2	Prospero-related homeo box 1, 601546	.	.	.	12692551|18931657|16170315|19056883|20558617|10888866|10080188|10499794|8812486	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_CIRCADIAN_RHYTHM;GO_SPINAL_CORD_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_DENTATE_GYRUS_DEVELOPMENT;GO_HINDBRAIN_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE_CHECKPOINT;GO_LENS_FIBER_CELL_DIFFERENTIATION;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_METENCEPHALON_DEVELOPMENT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_GLAND_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_VENTRICULAR_SEPTUM_MORPHOGENESIS;GO_CARDIAC_CHAMBER_MORPHOGENESIS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_OTIC_VESICLE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_NEGATIVE_REGULATION_OF_VIRAL_PROCESS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_TISSUE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_HEART_GROWTH;GO_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_CEREBELLAR_CORTEX_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ARTERY_DEVELOPMENT;GO_CARDIAC_MYOFIBRIL_ASSEMBLY;GO_NEURAL_TUBE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ENDOCARDIUM_DEVELOPMENT;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_PANCREAS_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_AORTA_DEVELOPMENT;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_MORPHOGENESIS_OF_AN_ENDOTHELIUM;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_CARDIAC_ATRIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_SMOOTH_MUSCLE_TISSUE_DEVELOPMENT;GO_EAR_DEVELOPMENT;GO_ARTERY_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CEREBELLAR_GRANULAR_LAYER_DEVELOPMENT;GO_VENTRICULAR_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_NOSE_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CEREBELLAR_CORTEX_DEVELOPMENT;GO_HIPPOCAMPUS_DEVELOPMENT;GO_EMBRYONIC_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_LYMPHANGIOGENESIS;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ORGAN_GROWTH;GO_REGULATION_OF_SYMBIOSIS_ENCOMPASSING_MUTUALISM_THROUGH_PARASITISM;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_HEART_MORPHOGENESIS;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_CARDIAC_VENTRICLE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_CELL_DIFFERENTIATION_IN_HINDBRAIN;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_PALLIUM_DEVELOPMENT;GO_MYOFIBRIL_ASSEMBLY;GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ENDOTHELIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_ORGANELLE_ASSEMBLY;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_ECTODERMAL_PLACODE_DEVELOPMENT;GO_MAINTENANCE_OF_CELL_NUMBER;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_EAR_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_VENTRICULAR_SEPTUM_DEVELOPMENT;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GROWTH;GO_HEAD_DEVELOPMENT;GO_NEURONAL_STEM_CELL_POPULATION_MAINTENANCE;GO_CELL_FATE_DETERMINATION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_LYMPH_VESSEL_MORPHOGENESIS;GO_CARDIOCYTE_DIFFERENTIATION;GO_CELL_FATE_COMMITMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_HINDBRAIN_MORPHOGENESIS;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_EYE_DEVELOPMENT;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_EYE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_HEART_GROWTH;GO_CEREBELLAR_CORTEX_FORMATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_LENS_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_CARDIAC_SEPTUM_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_INVOLVED_IN_CELL_FATE_COMMITMENT;GO_GLAND_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_LYMPH_VESSEL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_VIRAL_GENOME_REPLICATION;GO_DORSAL_SPINAL_CORD_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_VIRAL_GENOME_REPLICATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_VENOUS_BLOOD_VESSEL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DEVELOPMENT;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_AORTA_MORPHOGENESIS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ORGAN_GROWTH;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_EPITHELIAL_CELL_FATE_COMMITMENT;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_EMBRYONIC_CAMERA_TYPE_EYE_FORMATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_EMBRYONIC_CAMERA_TYPE_EYE_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_LENS_FIBER_CELL_DEVELOPMENT;GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_POSITIVE_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_CARDIAC_CELL_DEVELOPMENT;GO_INNER_EAR_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_GLANDULAR_EPITHELIAL_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_EYE_MORPHOGENESIS	.	GO_CORE_PROMOTER_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000117707-PROX1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 8.1	nucleus but not nucleoli	.	BP7
L	1	223178147	rs199856419	A	G	222	PASS	DISP1	.	exonic	NM_001350630,NM_032890	.	synonymous SNV	DISP1:NM_001350630:exon9:c.A2679G:p.P893P,DISP1:NM_032890:exon10:c.A3408G:p.P1136P	ENSG00000154309.8,ENST00000284476.7	.	1q41	.	.	.	.	.	rs199856419	.	.	0.00166113	0.001	0.000199681	.	0.00002450	244870	0.00034787	17248	0.00058298	.	.	.	.	.	.	.	.	.	.	.	.	-2.692	-5.028	.	.	.	VDB=0.858134;SGB=-0.692831;RPB=0.997809;MQB=2.72165e-08;MQSB=0.37718;BQB=0.540496;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=70;DP4=19,13,11,13;MinDP=35;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:35:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:56:255,0,255:32,24	A	G	0	1	.	.	.	.	.	GO_MUSCLE_ORGAN_DEVELOPMENT;GO_AMIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PROTEIN_MATURATION;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_SPECIFICATION_OF_SYMMETRY;GO_EMBRYO_DEVELOPMENT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_EMBRYONIC_PATTERN_SPECIFICATION;GO_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_SMOOTHENED_SIGNALING_PATHWAY;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_PATTERN_SPECIFICATION_PROCESS;GO_REGIONALIZATION;GO_PEPTIDE_TRANSPORT	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Gastrointestinal tract, renal tubules, fallopian tube, muscle tissues, exocrine pancreas, glandular cells of postmenopausal uterus and Langerhans cells of skin exhibited moderate to strong cytoplasmic positivity. Villi of intestinal tract and epididymis were distinctly stained. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000154309-DISP1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 10.4	nucleus	.	BP7, PM2
H-	1	223853113	rs368233292	G	A	222	PASS	CAPN8	.	exonic	NM_001143962	.	unknown	UNKNOWN	ENST00000366872.9,ENSG00000203697.11,ENST00000419193.6,ENST00000366873.6	.	1q41	.	.	.	.	.	rs368233292	.	.	.	.	.	0.0002	0.00003819	183282	0.00008430	11862	0.00019433	.	.	.	Peptidase C2, calpain, catalytic domain	0.131,T	0.111,B	0.541,P	0.997801,D	0.030182,N	1.655,L	2.32,T	10.8387	0.417	1.405	4.112573,23.7	3.11	0.0141718444475	VDB=0.129562;SGB=-0.693147;RPB=0.132814;MQB=7.82054e-15;MQSB=0.99264;BQB=0.0870507;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=179;DP4=56,21,38,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:134:255,0,255:77,57	G	A	0	1	.	.	.	.	.	GO_DIGESTION;GO_PROTEOLYSIS	GO_GOLGI_APPARATUS	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY;GO_CALCIUM_DEPENDENT_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic expression mainly in gastrointestinal mucosa.	http://www.proteinatlas.org/ENSG00000203697-CAPN8/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	rectum: 16.7	.	.	PM1, PM2
H	1	223949949	.	GA	G	222	PASS	CAPN2	Calpain, large polypeptide L2	exonic	NM_001146068,NM_001748	.	frameshift deletion	CAPN2:NM_001146068:exon14:c.1395delA:p.G465fs,CAPN2:NM_001748:exon14:c.1629delA:p.G543fs	ENSG00000162909.17,ENST00000492565.1,ENST00000295006.5,ENST00000474026.5,ENST00000487223.5,ENST00000433674.6	.	1q41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.019247;SGB=-0.692717;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=62;DP4=15,8,16,7;IDV=32;IMF=0.516129;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:46:255,0,255:23,23	GA	G	0	1	Calpain, large polypeptide L2, 114230	.	.	.	12070670|19342550|19020623|14559243|2852952|19020622|12150984|2209092|23940116|9562261	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_CELLULAR_CATABOLIC_PROCESS;GO_RESPONSE_TO_ACID_CHEMICAL;GO_PROTEIN_MATURATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_BLASTOCYST_DEVELOPMENT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_AMINO_ACID;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STIMULUS;GO_MYOTUBE_DIFFERENTIATION;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CATABOLIC_PROCESS;GO_PROTEIN_AUTOPROCESSING;GO_PROTEOLYSIS;GO_SYNCYTIUM_FORMATION;GO_MYOBLAST_FUSION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_CHROMOSOME;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_CORTEX_PART;GO_VACUOLE;GO_NEURON_PART;GO_CORTICAL_CYTOSKELETON;GO_PERINUCLEAR_ENDOPLASMIC_RETICULUM;GO_ENDOPLASMIC_RETICULUM_PART;GO_CHROMATIN;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_NEURON_PROJECTION;GO_MEMBRANE_MICRODOMAIN;GO_ANCHORING_JUNCTION;GO_CELL_CORTEX;GO_PSEUDOPODIUM;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_DENDRITE	GO_PEPTIDASE_ACTIVITY;GO_CYTOSKELETAL_PROTEIN_BINDING;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY;GO_CALCIUM_DEPENDENT_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_APOPTOSIS;KEGG_FOCAL_ADHESION;KEGG_ALZHEIMERS_DISEASE	PID_ERBB1_DOWNSTREAM_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MEF2D_PATHWAY	.	Respiratory epithelium of the bronchus exhibited strong cytoplasmic staining. Urothelium, stomach, rectum, adrenal gland, renal distal tubules and glomeruli showed moderate cytoplasmic immunoreactivity. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000162909-CAPN2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lung: 162.5	cytoplasm	.	PM2
H	1	225707033	.	A	ATCCAGGCGTTCCTGCCGC	225	PASS	ENAH	Enabled, Drosophila, homolog of	exonic	NM_001008493,NM_018212	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.668_669insGCGGCAGGAACGCCTGGA:p.D223delinsERQERLD,ENAH:NM_018212:exon5:c.668_669insGCGGCAGGAACGCCTGGA:p.D223delinsERQERLD	ENST00000391874.2,ENST00000366843.6,ENST00000366844.7,ENST00000497899.6,ENST00000635051.1,ENSG00000154380.17	.	1q42.12	.	.	.	.	.	.	.	.	.	.	.	.	0.00669225	274646	0.04070017	18624	0.03518887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=9.70723e-08;SGB=-0.689466;MQSB=0.928571;MQ0F=0;MQ=49;DP=814;DP4=0,0,5,29;IDV=45;IMF=0.158451;MinDP=100;AN=18;AC=4	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	1/1:16:255,48,0,.,.,.:0,16,.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:6:186,.,.:0,.	1/1:12:253,36,0,.,.,.:0,12,.	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC,A	2	0	Enabled, Drosophila, homolog of, 609061	.	.	.	9407065|10087267|19081071|1420303|12672821|16494957	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_CELL_DEVELOPMENT	GO_FILOPODIUM;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_SYNAPSE;GO_LAMELLIPODIUM;GO_ANCHORING_JUNCTION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_SH3_DOMAIN_BINDING;GO_WW_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ECADHERIN_NASCENT_AJ_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TCR_SIGNALING;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	General cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000154380-ENAH/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	smooth muscle: 38.0	plasma membrane; cytoplasm; focal adhesions	.	BS1, PM4
H	1	228468483	rs182094036	G	A	222	PASS	OBSCN	.	exonic	NM_001098623,NM_001271223,NM_052843	.	missense SNV	OBSCN:NM_001098623:exon30:c.G8183A:p.R2728Q,OBSCN:NM_052843:exon30:c.G8183A:p.R2728Q,OBSCN:NM_001271223:exon35:c.G9470A:p.R3157Q	ENST00000483539.2,ENST00000366704.1,ENST00000422127.5,ENSG00000154358.20,ENST00000366707.9,ENST00000284548.15,ENST00000366706.6,ENST00000636875.1,ENST00000570156.6	CpG: 41	1q42.13	.	.	Score=793;Name=V$ER_Q6	.	.	rs182094036	.	.	0.00332226	0.002	0.000399361	.	0.00030132	258858	0.00409659	18552	0.00331643	0.00354610	.	-1.3215	Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like fold	.	0.074,B	0.326,B	1,N	0.839268,N	-0.38,N	3.58,T	11.8022	-0.359	-0.049	.	.	0.0219234208472	VDB=0.00418435;SGB=-0.692717;RPB=0.981207;MQB=1.54694e-07;MQSB=0.998998;BQB=0.970791;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=4,16,5,18;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:12:.:.	0/0:30:.:.	0/1:43:255,0,255:20,23	G	A	0	1	.	.	.	.	.	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_SARCOMERE_ORGANIZATION;GO_MACROAUTOPHAGY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_MITOCHONDRION_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_LOCALIZATION;GO_MACROMITOPHAGY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_MUSCLE_CELL_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_ORGANELLE_DISASSEMBLY	GO_I_BAND;GO_M_BAND;GO_CONTRACTILE_FIBER;GO_A_BAND	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ANKYRIN_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_CALMODULIN_BINDING;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_TITIN_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	Cytoplasmic expression at high levels in striated muscle and weaker in several other tissues.	http://www.proteinatlas.org/ENSG00000154358-OBSCN/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	heart muscle: 30.7	nucleus but not nucleoli; plasma membrane; cytoplasm	.	BP4, PM1, PM2
H	1	228497266	rs757787278	C	A	222	PASS	OBSCN	.	splicing	NM_001098623,NM_001271223,NM_052843	NM_001098623:exon49:c.13012+6C>A;NM_001271223:exon60:c.15883+6C>A;NM_052843:exon49:c.13012+6C>A	.	.	ENST00000483539.2,ENST00000422127.5,ENSG00000154358.20,ENST00000366707.9,ENST00000284548.15,ENST00000636875.1,ENST00000570156.6	.	1q42.13	.	.	.	.	.	rs757787278	.	.	.	.	.	.	0.00001083	277034	.	.	.	.	0.0011,0.13	-0.1193	.	.	.	.	.	.	.	.	.	1.259	1.418	1.980884,16.09	3.03	.	VDB=0.000119452;SGB=-0.693147;RPB=0.949328;MQB=0.4029;MQSB=0.937107;BQB=0.950871;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=164;DP4=25,31,25,42;MinDP=72;AN=18;AC=1	GT:DP:PL:AD	0/0:79:.:.	0/0:107:.:.	0/0:124:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:72:.:.	0/0:100:.:.	0/1:123:255,0,255:56,67	C	A	0	1	.	.	.	.	.	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_SARCOMERE_ORGANIZATION;GO_MACROAUTOPHAGY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_MITOCHONDRION_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_LOCALIZATION;GO_MACROMITOPHAGY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_MUSCLE_CELL_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_ORGANELLE_DISASSEMBLY	GO_I_BAND;GO_M_BAND;GO_CONTRACTILE_FIBER;GO_A_BAND	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ANKYRIN_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_CALMODULIN_BINDING;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_TITIN_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	Cytoplasmic expression at high levels in striated muscle and weaker in several other tissues.	http://www.proteinatlas.org/ENSG00000154358-OBSCN/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	heart muscle: 30.7	nucleus but not nucleoli; plasma membrane; cytoplasm	.	PM2, PP3
H	1	230468796	rs771240293	AGAGG	A	222	PASS	PGBD5	Piggybac transposable element-derived 5	splicing	NM_001258311	.	.	.	ENST00000525115.1,ENST00000391860.6,ENSG00000177614.10,ENST00000530424.1	CpG: 25	1q42.13	.	.	.	.	.	rs771240293	.	.	.	.	.	.	0.00083850	217054	0.01197004	14954	0.00680140	0.00795053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=4.25756e-05;SGB=-0.69311;MQSB=0.967479;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=111;DP4=10,47,10,35;IDV=30;IMF=0.576923;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:49:255,0,255:18,31	0/1:53:255,0,255:39,14	AGAGG	A	0	2	Piggybac transposable element-derived 5, 616791	.	.	.	12955498	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000177614-PGBD5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 7.5	nucleus but not nucleoli	.	.
L	1	236907963	rs144819985	G	A	222	PASS	ACTN2	Actinin, alpha-2	exonic	NM_001103,NM_001278343,NM_001278344	.	synonymous SNV	ACTN2:NM_001103:exon12:c.G1293A:p.S431S,ACTN2:NM_001278343:exon12:c.G1293A:p.S431S,ACTN2:NM_001278344:exon14:c.G669A:p.S223S	ENST00000366578.5,ENST00000542672.5,ENST00000546208.5,ENSG00000077522.12,ENST00000492634.5	.	1q43	.	.	.	.	.	rs144819985	Likely benign;not_specified;RCV000435837.1;MedGen;CN169374	.	.	.	.	0.0003	0.00006135	277090	.	.	.	0.00088028	.	-0.0905	.	.	.	.	.	.	.	.	.	-1.884	-3.778	.	.	.	VDB=0.452024;SGB=-0.693147;RPB=0.993795;MQB=5.88428e-11;MQSB=0.530242;BQB=0.982386;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=119;DP4=31,13,39,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:93:255,0,255:44,49	G	A	0	1	Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant	.	.	.	25224718|1339456|1505962|20022194|25173926|22253474|12140183|11440986|14567970|21536590|17097056	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PROTEIN_HOMOTETRAMERIZATION;GO_RESPONSE_TO_PEPTIDE;GO_SECRETION_BY_CELL;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIN_MYOSIN_FILAMENT_SLIDING;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_ANGIOTENSIN;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_VACUOLAR_TRANSPORT;GO_CELL_MATRIX_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_SARCOMERE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SECRETION;GO_PROTEIN_OLIGOMERIZATION;GO_REGULATION_OF_VACUOLAR_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_CELL_JUNCTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ADHERENS_JUNCTION_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_MUSCLE_CONTRACTION;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_RECEPTOR_ACTIVITY;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIN_MEDIATED_CELL_CONTRACTION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CELL_SUBSTRATE_JUNCTION_ASSEMBLY;GO_CELL_SUBSTRATE_ADHERENS_JUNCTION_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CARDIOCYTE_DIFFERENTIATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_DEPOLYMERIZATION;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_CELL_DEATH;GO_MUSCLE_SYSTEM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_EXOCYTOSIS;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_ION_TRANSPORT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PLATELET_DEGRANULATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_MUSCLE_CELL_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_PROTEIN_TETRAMERIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_REGULATED_EXOCYTOSIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_CARDIAC_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION	GO_FILOPODIUM;GO_I_BAND;GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_CYTOPLASMIC_REGION;GO_SECRETORY_GRANULE_LUMEN;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_VESICLE_LUMEN;GO_CORTICAL_CYTOSKELETON;GO_NEURON_SPINE;GO_CELL_JUNCTION;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_CONTRACTILE_FIBER;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_ANCHORING_JUNCTION;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_CYTOPLASMIC_VESICLE_PART;GO_PSEUDOPODIUM;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ACTIN_FILAMENT;GO_SYNAPSE_PART;GO_DENDRITE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_ACTIN_BINDING;GO_PHOSPHATIDYLINOSITOL_4_5_BISPHOSPHATE_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_CALCIUM_ION_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_RECEPTOR_ACTIVATOR_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_PROTEIN_COMPLEX_BINDING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_PHOSPHATIDYLINOSITOL_BISPHOSPHATE_BINDING;GO_ION_CHANNEL_BINDING;GO_INTEGRIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TITIN_BINDING;GO_LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_RECEPTOR_REGULATOR_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	.	BIOCARTA_CELL2CELL_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY;BIOCARTA_UCALPAIN_PATHWAY	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_UNBLOCKING_OF_NMDA_RECEPTOR_GLUTAMATE_BINDING_AND_ACTIVATION;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII;REACTOME_NEPHRIN_INTERACTIONS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Ubiquitous cytoplasmic expression, most abundant in heart and skeletal muscle.	http://www.proteinatlas.org/ENSG00000077522-ACTN2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 24.3	.	.	BP6, BP7, PM2
M	1	238050801	rs35921460	G	A	222	PASS	ZP4	Zona pellucida glycoprotein 4	exonic	NM_021186	.	missense SNV	ZP4:NM_021186:exon5:c.C614T:p.S205L	ENSG00000116996.9,ENST00000450451.1,ENSG00000237250.3,ENST00000611898.4,ENST00000366570.4	.	1q43	.	.	.	.	.	rs35921460	.	.	0.0149502	0.0169	0.00399361	0.0006	0.00160928	277142	0.01897191	18870	0.01554606	0.01584507	.	-0.0199	Zona pellucida domain	0.374,T	0.051,B	0.219,B	1,N	0.822324,N	0.63,N	-1.59,D	0.9903	0.198	0.769	.	.	.	VDB=0.0286592;SGB=-0.693132;RPB=0.776863;MQB=6.3361e-10;MQSB=0.717866;BQB=0.996428;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=89;DP4=15,23,12,22;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:72:255,0,255:38,34	G	A	0	1	Zona pellucida glycoprotein 4, 613514	.	.	.	18667750|7841460|15142998	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_ACTIVATION;GO_SINGLE_FERTILIZATION;GO_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_SECRETION_BY_CELL;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_SECRETION;GO_SEXUAL_REPRODUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_PROTEIN_KINASE_C_SIGNALING;GO_SPERM_EGG_RECOGNITION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ACROSOME_REACTION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_ACROSOME_REACTION;GO_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_CELL_RECOGNITION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_FERTILIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CELL_RECOGNITION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_REPRODUCTION;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_SECRETION;GO_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATED_EXOCYTOSIS;GO_REGULATION_OF_CELL_PROLIFERATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_ENZYME_BINDING	.	.	.	.	Normal tissues generally showed weak cytoplasmic positivity. Lung macrophages were strongly stained.	http://www.proteinatlas.org/ENSG00000116996-ZP4/tissue	FPKM<0.5 in all tissues <Not detected>	tonsil: 0.1	.	.	BP4, PM1
M	1	244999039	rs562420427	G	A	152	PASS	COX20	Cytochrome c oxidase 20, S. cerevisiae, homolog of	exonic;splicing	NM_001312871,NM_001312872,NM_001312874,NM_198076,NM_001312873	NM_001312873:exon1:c.22+1G>A	missense SNV	COX20:NM_001312872:exon1:c.G23A:p.G8D,COX20:NM_001312874:exon1:c.G23A:p.G8D,COX20:NM_198076:exon1:c.G23A:p.G8D,COX20:NM_001312871:exon2:c.G23A:p.G8D	ENSG00000203667.9,ENST00000411948.6,ENST00000366528.3,ENST00000498262.1,ENST00000391839.6	CpG: 101	1q44	.	.	.	.	.	rs562420427	.	.	0.00166113	0.001	0.000199681	.	.	.	.	.	.	.	.	.	.	0.357,T	0.007,B	0.001,B	1,N	0.379072,N	0.565,N	.	3.8265	0.351	0.296	.	2.35	0.10830747145	VDB=0.674993;SGB=-0.69168;RPB=0.811825;MQB=0.0143269;BQB=0.329494;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=46;DP4=16,0,19,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:11:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:35:185,0,203:16,19	G	A	0	1	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial	.	.	.	24403053|24202787|22356826|23125284	.	.	.	.	.	.	.	Selective expression in hematopoietic cells and red blood cells.	http://www.proteinatlas.org/ENSG00000203667-COX20/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 8.8	mitochondria	.	PM2
L*	1	245850806	rs117760772	G	A	222	PASS	KIF26B	Kinesin family member 26B	exonic	NM_018012	.	synonymous SNV	KIF26B:NM_018012:exon12:c.G4521A:p.R1507R	ENST00000366518.4,ENST00000407071.6,ENSG00000162849.15	.	1q44	.	.	.	.	.	rs117760772	.	.	0.0448505	0.0357	0.0071885	0.0003	0.00299374	217120	0.03950261	14556	0.03905946	0.02904930	.	0.0508	.	.	.	.	.	.	.	.	.	1.375	0.761	.	4.45	.	VDB=0.848943;SGB=-0.693147;RPB=0.935504;MQB=2.08247e-19;MQSB=0.941466;BQB=0.978516;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=216;DP4=58,21,61,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:159:255,0,255:79,80	G	A	0	1	Kinesin family member 26B, 614026	.	.	.	29053796|20439720	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_METANEPHRIC_NEPHRON_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_METANEPHROS_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_RENAL_VESICLE_DEVELOPMENT;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_METANEPHRIC_RENAL_VESICLE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_RENAL_TUBULE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_MESONEPHRIC_TUBULE_MORPHOGENESIS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_METANEPHRIC_NEPHRON_DEVELOPMENT;GO_NEUROGENESIS;GO_GROWTH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELL_ADHESION;GO_TUBE_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_KIDNEY_MORPHOGENESIS;GO_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_NEPHRON_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MESONEPHROS_DEVELOPMENT;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_TISSUE_DEVELOPMENT;GO_DEVELOPMENTAL_GROWTH;GO_METANEPHROS_MORPHOGENESIS	GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ATP_DEPENDENT_MICROTUBULE_MOTOR_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General cytoplasmic expression at variable levels.	http://www.proteinatlas.org/ENSG00000162849-KIF26B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 2.5	plasma membrane; cytoskeleton (microtubules)	.	BS1
H*	1	247464573	rs138266774	C	T	222	PASS	ZNF496	Zinc finger protein 496	exonic	NM_032752	.	missense SNV	ZNF496:NM_032752:exon10:c.G1012A:p.G338S	ENST00000462139.1,ENSG00000162714.12,ENST00000461277.2,ENST00000294753.8	CpG: 61	1q44	.	.	.	.	.	rs138266774	.	.	0.0598007	0.0466	0.00938498	0.0002	0.00282463	199672	0.03247853	16534	0.02331908	0.02640845	.	.	Krueppel-associated box	0.531,T	0.552,P	0.986,D	1,N	0.897395,N	2.24,M	3.24,T	6.3294	0.704	0.236	.	2.26	.	VDB=0.0109524;SGB=-0.693147;RPB=0.707442;MQB=2.40967e-16;MQSB=0.930728;BQB=0.997123;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=140;DP4=29,29,27,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:109:255,0,255:58,51	C	T	0	1	Zinc finger protein 496, 613911	.	.	.	17521633|15169884	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_PROTEIN_SELF_ASSOCIATION;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Selective cytplasmic expression in myoepithelial cells and endothelial cells.	http://www.proteinatlas.org/ENSG00000162714-ZNF496/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 15.9	.	.	BS1, PM1
L	1	249141869	rs375718499	G	C	222	PASS	ZNF672	.	exonic	NM_024836	.	synonymous SNV	ZNF672:NM_024836:exon4:c.G396C:p.L132L	ENST00000306562.7,ENSG00000171161.12	CpG: 145	1q44	.	.	Score=842;Name=V$GR_Q6	.	.	rs375718499	.	.	0.00332226	0.003	0.000599042	.	0.00044535	121252	0.00523104	9176	0.00877193	0.01232394	.	.	.	.	.	.	.	.	.	.	.	0.413	0.512	.	.	.	VDB=0.526881;SGB=-0.693147;RPB=0.890846;MQB=0.00239974;MQSB=0.75715;BQB=0.348799;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=108;DP4=18,20,28,18;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:61:.:.	0/0:91:.:.	0/0:83:.:.	0/0:74:.:.	0/0:52:.:.	0/0:52:.:.	0/0:55:.:.	0/0:56:.:.	0/1:84:255,0,255:38,46	G	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues displayed moderate to strong nuclear positivity. Cytoplasmic and/or membranous staining was observed in gastrointestinal tract, exocrine pancreas, endometrial glands, breast, placental trophoblasts and prostate. Soft tissues were negative.	http://www.proteinatlas.org/ENSG00000171161-ZNF672/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 11.4	nucleus but not nucleoli	.	BP7
L	2	1488544	rs146768724	C	T	222	PASS	TPO	Thyroid peroxidase	exonic	NM_000547,NM_001206744,NM_001206745,NM_175719,NM_175721,NM_175722	.	synonymous SNV	TPO:NM_175722:exon7:c.C996T:p.D332D,TPO:NM_175721:exon8:c.C1515T:p.D505D,TPO:NM_000547:exon9:c.C1515T:p.D505D,TPO:NM_001206744:exon9:c.C1515T:p.D505D,TPO:NM_001206745:exon9:c.C1515T:p.D505D,TPO:NM_175719:exon9:c.C1515T:p.D505D	ENST00000382198.5,ENST00000329066.8,ENST00000345913.8,ENST00000446278.5,ENST00000382201.7,ENST00000469607.3,ENST00000462973.5,ENST00000497517.6,ENST00000346956.7,ENST00000422464.5,ENSG00000115705.20	.	2p25.3	.	.	.	.	.	rs146768724	.	.	0.00996678	0.0099	0.00239617	0.0021	0.00058120	277014	0.00222694	18860	0.00116595	.	.	-0.0059	.	.	.	.	0.999999,D	.	.	.	6.5024	-0.242	-0.979	0.956822,10.41	.	.	VDB=0.00842743;SGB=-0.693147;RPB=0.786049;MQB=8.12477e-18;MQSB=0.687289;BQB=0.835268;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=191;DP4=36,37,29,40;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:142:255,0,255:73,69	C	T	0	1	Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive	.	.	.	1401057|11238503|11061528|9024270|8027236|7550241|8964831|18029453|3378456|7759120|12843174|2548579|3475693|10487692|9814507|12213873|10084596|15863666|3654979	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_EMBRYONIC_HEMOPOIESIS;GO_CELLULAR_CATABOLIC_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_HYDROGEN_PEROXIDE_CATABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_THYROID_HORMONE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_NITRIC_OXIDE;GO_EMBRYO_DEVELOPMENT;GO_HORMONE_BIOSYNTHETIC_PROCESS;GO_DETOXIFICATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_OXIDATION_REDUCTION_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_HYDROGEN_PEROXIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_REACTIVE_NITROGEN_SPECIES;GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_HORMONE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_THYROID_HORMONE_GENERATION;GO_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_RESPONSE_TO_NITRIC_OXIDE	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_MITOCHONDRION;GO_CELL_SURFACE	GO_CALCIUM_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR;GO_TETRAPYRROLE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_TYROSINE_METABOLISM;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	Distinct cytoplasmic expression in thyroid glandular cells.	http://www.proteinatlas.org/ENSG00000115705-TPO/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 26.7	cytoplasm	.	BP7
H	2	3789604	rs79897504	G	A	222	PASS	DCDC2C	.	exonic	NM_001287444	.	missense SNV	DCDC2C:NM_001287444:exon4:c.G511A:p.G171R	ENSG00000214866.8,ENST00000537457.1,ENST00000399143.8	.	2p25.3	.	.	.	.	.	rs79897504	.	.	0.0332226	0.0317	0.0091853	.	0.00424168	171630	0.03140055	11624	0.02331908	0.02376761	.	-0.1282	Doublecortin domain	0.142,T	.	.	.	.	1.95,M	-2.99,D	8.7835	0.977	2.251	4.115193,23.8	3.83	.	VDB=0.237465;SGB=-0.693141;RPB=0.96041;MQB=6.20749e-10;MQSB=0.885097;BQB=0.747872;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=89;DP4=23,6,29,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:54:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/1:66:255,0,255:29,37	G	A	0	1	.	.	.	.	.	GO_INTRACELLULAR_SIGNAL_TRANSDUCTION	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000214866-DCDC2C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BS1, PM1, PP3
H	2	8890355	rs561743411	C	T	222	PASS	KIDINS220	Kinase D-interacting substrate, 220kD	exonic	NM_001348729,NM_001348731,NM_001348732,NM_001348734,NM_001348735,NM_001348736,NM_001348738,NM_001348739,NM_001348740,NM_001348741,NM_001348742,NM_001348743,NM_020738	.	missense SNV	KIDINS220:NM_001348729:exon24:c.G3304A:p.V1102M,KIDINS220:NM_001348731:exon24:c.G3304A:p.V1102M,KIDINS220:NM_001348732:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348734:exon24:c.G3304A:p.V1102M,KIDINS220:NM_001348735:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348738:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348739:exon24:c.G3304A:p.V1102M,KIDINS220:NM_001348740:exon24:c.G3304A:p.V1102M,KIDINS220:NM_001348741:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348742:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348743:exon24:c.G3301A:p.V1101M,KIDINS220:NM_020738:exon24:c.G3301A:p.V1101M,KIDINS220:NM_001348736:exon25:c.G3175A:p.V1059M	ENST00000496383.5,ENST00000459813.1,ENST00000256707.7,ENST00000569008.2,ENSG00000134313.15,ENST00000488729.5,ENST00000473731.5,ENST00000638224.1,ENST00000489024.5	.	2p25.1	.	.	.	.	.	rs561743411	.	.	0.00166113	0.001	0.000199681	.	0.00031413	276954	0.00408228	18862	0.00213758	0.00176056	.	-0.3003	.	0.038,D	0.475,P	0.924,P	0.825505,N	0.004520,N	1.1,L	-0.19,T	12.3247	2.733	3.096	2.689074,20.7	3.91	0.0247110634641	VDB=0.000700089;SGB=-0.693147;RPB=0.792833;MQB=4.80305e-17;MQSB=0.768213;BQB=0.968481;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=152;DP4=32,33,25,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:101:.:.	0/1:116:255,0,255:65,51	C	T	0	1	Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant	.	.	.	15167895|17079733|10998417|27005418|11150334|14971036|26083449	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEUROTROPHIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_ACTIVATION_OF_MAPKK_ACTIVITY	GO_VACUOLE;GO_LATE_ENDOSOME;GO_ENDOSOME	GO_KINASE_REGULATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	KEGG_NEUROTROPHIN_SIGNALING_PATHWAY	.	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_ARMS_MEDIATED_ACTIVATION;REACTOME_PROLONGED_ERK_ACTIVATION_EVENTS;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALLING_TO_ERKS	Strong positivity was observed in gastrointestinal glands, myocytes and astrocytes in the CNS. The lymphoid tissues exhibited weak cytoplasmic positivity. Normal tissues in general displayed weak to moderate cytoplasmic positivity often combined with membranous staining.	http://www.proteinatlas.org/ENSG00000134313-KIDINS220/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 34.8	nucleus but not nucleoli	.	PM2
L+	2	9580666	rs573001104	C	T	222	PASS	CPSF3	.	exonic	NM_001321833,NM_001321834,NM_001321835,NM_001321836,NM_016207	.	synonymous SNV	CPSF3:NM_001321833:exon8:c.C696T:p.Y232Y,CPSF3:NM_001321834:exon8:c.C696T:p.Y232Y,CPSF3:NM_001321835:exon8:c.C390T:p.Y130Y,CPSF3:NM_016207:exon8:c.C807T:p.Y269Y,CPSF3:NM_001321836:exon9:c.C819T:p.Y273Y	ENSG00000119203.13,ENST00000238112.7,ENST00000460593.1	.	2p25.1	.	.	.	.	.	rs573001104	.	.	0.00166113	0.001	0.000199681	.	0.00005412	277140	0.00079500	18868	0.00038865	.	.	-0.1242	.	.	.	.	.	.	.	.	.	0.336	1.353	1.235974,11.94	2.58	.	VDB=0.497144;SGB=-0.691153;RPB=0.999908;MQB=6.30989e-06;MQSB=0.644129;BQB=0.594712;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=53;DP4=11,11,11,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:40:255,0,255:22,18	C	T	0	1	.	.	.	.	.	GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_MRNA_PROCESSING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_RNA_PROCESSING;GO_NUCLEAR_TRANSPORT;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_LOCALIZATION;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_MRNA_3_END_PROCESSING;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_MRNA_CLEAVAGE;GO_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION;GO_HISTONE_MRNA_METABOLIC_PROCESS;GO_RNA_POLYADENYLATION;GO_MRNA_METABOLIC_PROCESS;GO_NUCLEAR_EXPORT;GO_RNA_3_END_PROCESSING;GO_RNA_LOCALIZATION;GO_RNA_SPLICING;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS_ENDONUCLEOLYTIC	GO_MRNA_CLEAVAGE_FACTOR_COMPLEX;GO_MRNA_CLEAVAGE_AND_POLYADENYLATION_SPECIFICITY_FACTOR_COMPLEX;GO_NUCLEOPLASM_PART;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_5_3_EXONUCLEASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEASE_ACTIVITY;GO_EXONUCLEASE_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY;GO_ENDORIBONUCLEASE_ACTIVITY;GO_RIBONUCLEASE_ACTIVITY;GO_RNA_BINDING	.	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_TRANSPORT_OF_MATURE_TRANSCRIPT_TO_CYTOPLASM;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_TRANSPORT_OF_MATURE_MRNA_DERIVED_FROM_AN_INTRONLESS_TRANSCRIPT;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	Most normal tissues displayed moderate nuclear and/or cytoplasmic positivity. Renal tubules and the gastrointestinal tract showed strong cytoplasmic positivity while cases of squamous epithelia and the fallopian tube showed strong nuclear staining. Alveolar cells, bile duct cells, renal glomeruli and the spleen were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000119203-CPSF3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 42.2	.	.	PM2
L	2	11334384	rs55839233	T	G	165	PASS	ROCK2	RHO-associated coiled-coil-containing protein kinase 2	exonic	NM_001321643,NM_004850	.	synonymous SNV	ROCK2:NM_001321643:exon29:c.A3348C:p.I1116I,ROCK2:NM_004850:exon29:c.A3606C:p.I1202I	ENST00000616279.4,ENST00000460262.1,ENSG00000134318.13,ENST00000493096.1,ENST00000315872.10,ENST00000401753.5	.	2p25.1	.	.	.	.	.	rs55839233	.	.	0.0315615	0.0258	0.00539137	8.6e-05	0.00113561	230714	0.01657682	14840	0.01091618	0.01672535	0.0957,0.226	0.4717	.	.	.	.	.	.	.	.	.	2.289	0.399	1.587366,13.78	5.66	.	VDB=0.651328;SGB=-0.616816;RPB=0.991701;MQB=0.035674;MQSB=0.913931;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=53;DP4=15,6,9,5;MinDP=5;AN=18;AC=2	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/1:14:175,0,220:8,6	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:198,0,255:13,8	T	G	0	2	RHO-associated coiled-coil-containing protein kinase 2, 604002	.	.	.	21282601|9734811|11274070|11274082|9933571|12832488|19509062	GO_NEGATIVE_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_CELL_DIVISION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_REGULATION_OF_EPIDERMIS_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_TESTOSTERONE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_MUSCLE_CONTRACTION;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_KETONE;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_RESPONSE_TO_HORMONE;GO_CENTROSOME_CYCLE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CENTROSOME_CYCLE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_CENTROSOME_DUPLICATION;GO_EPHRIN_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DEPHOSPHORYLATION;GO_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_SMOOTH_MUSCLE_CONTRACTION;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_KETONE;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_CYTOKINESIS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CENTROSOME_DUPLICATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CORTICAL_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_BICELLULAR_TIGHT_JUNCTION_ASSEMBLY;GO_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_RIBONUCLEOPROTEIN_GRANULE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PROTEIN_KINASE_ACTIVITY;GO_RHO_GTPASE_BINDING;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_WNT_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_FOCAL_ADHESION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_RHOA_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_PLK1_PATHWAY;PID_THROMBIN_PAR4_PATHWAY;PID_THROMBIN_PAR1_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_CCR3_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_GPCR;REACTOME_AXON_GUIDANCE;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	Cytoplasmic expression in many cell types, high expression levels in neuronal cells in hippocampus and cerebral cortex as well as glandular cells of stomach.	http://www.proteinatlas.org/ENSG00000134318-ROCK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 26.0	nucleus but not nucleoli; cytoplasm	.	BS2
H	2	21365099	.	A	T	222	PASS	TDRD15	.	exonic	NM_001306137	.	missense SNV	TDRD15:NM_001306137:exon4:c.A4760T:p.N1587I	ENSG00000218819.4,ENST00000405799.1,ENST00000622654.1	.	2p24.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00000817	122352	0.00011358	8804	.	.	.	.	Tudor domain	0.048,D	.	.	.	.	.	3.02,T	5.2029	0.357	-0.014	.	.	0.00702633150287	VDB=0.834748;SGB=-0.69311;RPB=0.634839;MQB=1.35734e-07;MQSB=0.884211;BQB=0.818522;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=72;DP4=14,12,20,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:45:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/1:57:255,0,255:26,31	A	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000218819-TDRD15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	liver: 0.1	.	.	BP4, PM1, PM2
H+	2	23914590	rs541560688	G	A	222	PASS	KLHL29	.	exonic	NM_052920	.	missense SNV	KLHL29:NM_052920:exon7:c.G1126A:p.V376I	ENSG00000119771.14,ENST00000486442.5,ENST00000288548.5,ENST00000471654.1	.	2p24.1	.	.	.	.	.	rs541560688	.	.	0.00498339	0.004	0.000798722	.	0.00011521	182272	0.00126454	11862	0.00116595	.	.	0.1217	BTB/POZ;BTB/POZ fold;BTB/POZ-like	0.213,T	0.01,B	0.014,B	1,N	0.012243,N	0.565,N	-0.27,T	10.01	2.793	5.150	1.858013,15.33	4.49	0.0041967612227	VDB=0.395643;SGB=-0.693147;RPB=0.898515;MQB=1.68439e-13;MQSB=0.551693;BQB=0.945558;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=143;DP4=50,6,45,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/1:112:255,0,255:56,56	G	A	0	1	.	.	.	.	.	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_UBIQUITINATION	GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY	.	.	.	.	Most normal tissues exhibited weak to moderate cytoplasmic positivity with additional membranous and nuclear positivity in several cases. Hepatocytes, squamous epithelial cells, epididymis, cells in granular layer of cerebellum and a subset of neurons showed strong staining.	http://www.proteinatlas.org/ENSG00000119771-KLHL29/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adrenal gland: 7.5	mitochondria; cytoplasm	.	PM1, PM2
H*	2	25022589	rs142759452	C	A	222	PASS	CENPO	Centromeric protein O	exonic	NM_001199803,NM_001322101,NM_024322	.	missense SNV	CENPO:NM_001199803:exon2:c.C74A:p.S25Y,CENPO:NM_001322101:exon3:c.C92A:p.S31Y,CENPO:NM_024322:exon3:c.C92A:p.S31Y	ENSG00000138092.10,ENST00000473476.5,ENST00000380834.6,ENST00000486527.6,ENST00000498362.1,ENST00000491031.5,ENST00000473706.5,ENST00000260662.2	.	2p23.3	.	.	.	.	.	rs142759452	.	.	0.013289	0.0109	0.00239617	.	0.00073972	277132	0.01012189	18870	0.01379712	0.01320423	.	1.3965	.	0.192,T	0.509,P	0.845,P	1,N	0.005302,N	2.135,M	0.79,T	12.699	2.381	2.247	2.795968,21.3	4.54	.	VDB=0.659814;SGB=-0.683931;RPB=0.870278;MQB=0.000296045;MQSB=0.775438;BQB=0.999519;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=25;DP4=5,5,5,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:28:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:12:.:.	0/1:23:255,0,216:10,13	C	A	0	1	Centromeric protein O, 611504	.	.	.	16622420	GO_ATP_DEPENDENT_CHROMATIN_REMODELING;GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_HISTONE_EXCHANGE;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CHROMATIN_MODIFICATION;GO_SISTER_CHROMATID_SEGREGATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SISTER_CHROMATID_COHESION;GO_CHROMATIN_ORGANIZATION;GO_CELL_CYCLE;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CHROMATIN_REMODELING;GO_DNA_PACKAGING;GO_CENTROMERE_COMPLEX_ASSEMBLY;GO_DNA_REPLICATION_INDEPENDENT_NUCLEOSOME_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NUCLEAR_CHROMOSOME_SEGREGATION	GO_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_KINETOCHORE;GO_CONDENSED_CHROMOSOME_CENTROMERIC_REGION;GO_CONDENSED_CHROMOSOME	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	.	http://www.proteinatlas.org/ENSG00000138092-CENPO/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.1	nucleus but not nucleoli	.	.
L	2	26534133	rs58614509	G	A	222	PASS	ADGRF3	.	exonic	NM_001145168,NM_001145169,NM_001321971,NM_001321975,NM_153835	.	synonymous SNV	ADGRF3:NM_153835:exon8:c.C1866T:p.A622A,ADGRF3:NM_001145169:exon10:c.C2256T:p.A752A,ADGRF3:NM_001321971:exon10:c.C2259T:p.A753A,ADGRF3:NM_001145168:exon11:c.C2463T:p.A821A,ADGRF3:NM_001321975:exon11:c.C1272T:p.A424A	ENSG00000138018.17,ENSG00000173567.14,ENST00000421160.6,ENST00000447444.5,ENST00000435303.1,ENST00000311519.5,ENST00000333478.10,ENST00000442141.5,ENST00000459892.5	.	2p23.3	.	.	.	.	.	rs58614509	.	.	0.0149502	0.0179	0.00379393	0.0002	0.00176234	274068	0.02305476	18738	0.01651768	0.02380952	.	0.1137	.	.	.	.	.	.	.	.	.	-2.387	-4.956	.	.	.	VDB=0.354592;SGB=-0.693147;RPB=0.727864;MQB=9.94215e-29;MQSB=0.99061;BQB=0.96475;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=240;DP4=78,23,66,22;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:189:255,0,255:101,88	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7
H	2	26750770	rs144915302	C	T	222	PASS	OTOF	Otoferlin	exonic	NM_001287489,NM_194248	.	missense SNV	OTOF:NM_001287489:exon3:c.G157A:p.A53T,OTOF:NM_194248:exon3:c.G157A:p.A53T	ENST00000272371.6,ENST00000403946.7,ENSG00000115155.16	.	2p23.3	.	.	.	.	.	rs144915302	Likely benign;not_specified;RCV000041464.3;MedGen;CN169374	.	0.0149502	0.0149	0.00299521	.	0.00106427	277186	0.01537157	18866	0.01146522	0.01144366	.	0.2791	C2 domain	0.196,T	0.071,B	0.05,B	0.992286,D	0.000063,D	1.995,M	-0.52,T	13.621	1.223	4.340	3.747423,23.3	4.5	.	VDB=1.06243e-05;SGB=-0.693147;RPB=0.452581;MQB=4.43493e-09;MQSB=0.837388;BQB=0.102022;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=138;DP4=34,19,16,33;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:54:.:.	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/1:102:255,0,255:53,49	C	T	0	1	Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive	.	Deafness(CM1310657)	GCC-ACC|Ala53Thr|c.157G>A|p.A53T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=23967202&amp;dopt=Abstract)	23967202|10878664|19250381|19417007|22575033|12114484|12127154|14635104|17055430|9657592|16097006|16371502|12525542|10903124|10192385|10843812	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_MEMBRANE_FUSION;GO_CELL_CELL_SIGNALING;GO_NEUROTRANSMITTER_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_EAR_DEVELOPMENT;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_COCHLEA_DEVELOPMENT;GO_MEMBRANE_ORGANIZATION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_EXOCYTOSIS;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_VESICLE_MEMBRANE;GO_EXOCYTIC_VESICLE;GO_SECRETORY_VESICLE;GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_PRESYNAPSE;GO_TRANSPORT_VESICLE;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_TRANSPORT_VESICLE_MEMBRANE;GO_BASAL_PART_OF_CELL;GO_EXOCYTIC_VESICLE_MEMBRANE	GO_CALCIUM_ION_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in several different cell types.	http://www.proteinatlas.org/ENSG00000115155-OTOF/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.6	.	.	BP6
L	2	27324145	rs541426747	G	T	222	PASS	CGREF1	Cell growth regulator with EF-hand domain 1	exonic	NM_001166239,NM_006569	.	synonymous SNV	CGREF1:NM_001166239:exon6:c.C954A:p.I318I,CGREF1:NM_006569:exon6:c.C954A:p.I318I	ENSG00000138028.15,ENST00000405600.5,ENST00000402394.5,ENST00000640154.1,ENST00000440612.5,ENST00000312734.8,ENST00000260595.9,ENST00000404694.3,ENST00000402550.5	.	2p23.3	.	.	.	.	.	rs541426747	.	.	0	0.002	0.000399361	.	0.00005165	232328	0.00067114	17880	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-1.006	-1.003	.	.	.	VDB=0.360046;SGB=-0.69311;RPB=0.830637;MQB=4.12227e-07;MQSB=0.0909751;BQB=0.938642;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=98;DP4=25,13,28,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:52:.:.	0/1:69:255,0,255:38,31	G	T	0	1	Cell growth regulator with EF-hand domain 1, 606137	.	.	.	8968090	GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_CELL_CYCLE_ARREST;GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	.	GO_CALCIUM_ION_BINDING	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic staining. Nuclear positivity was observed in lymphoid tissues. Alveolar cells, pancreas and endocrine cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000138028-CGREF1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	stomach: 7.9	nucleus; cytoplasm; cytoskeleton (intermediate filaments); cytoskeleton (microtubules)	.	BP7, PM2
L	2	27447307	rs186063223	A	G	222	PASS	CAD	CAD trifunctional protein of pyrimidine biosynthesis	exonic	NM_001306079,NM_004341	.	synonymous SNV	CAD:NM_001306079:exon9:c.A1203G:p.S401S,CAD:NM_004341:exon9:c.A1203G:p.S401S	ENSG00000084774.13,ENST00000403525.5,ENST00000264705.8	.	2p23.3	.	.	.	.	.	rs186063223	.	.	0.0116279	0.0099	0.00199681	.	0.00037878	277206	0.00556439	18870	0.00291489	0.00352734	.	0.1632	.	.	.	.	.	.	.	.	.	-1.676	-3.546	.	.	.	VDB=0.0373393;SGB=-0.693147;RPB=0.894281;MQB=7.52368e-16;MQSB=0.13538;BQB=0.921994;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=147;DP4=39,15,32,23;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/1:109:255,0,255:54,55	A	G	0	1	Epileptic encephalopathy, early infantile, 50, 616457 (3), Autosomal recessive	.	.	.	23429703|8100805|2565865|11717437|10659854|28007989|25678555|23429704|1967494	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_GLUTAMINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGAN_REGENERATION;GO_CELLULAR_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR_STIMULUS;GO_PYRIMIDINE_NUCLEOTIDE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_AMINE;GO_RESPONSE_TO_STEROID_HORMONE;GO_ALPHA_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_NITROGEN_CYCLE_METABOLIC_PROCESS;GO_RESPONSE_TO_CORTICOSTEROID;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_PYRIMIDINE_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_REGENERATION;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR;GO_PYRIMIDINE_NUCLEOBASE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_GLUTAMINE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SECRETION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_TESTOSTERONE;GO_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ALKALOID;GO_RIBONUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_NUCLEOBASE_METABOLIC_PROCESS;GO_PEPTIDYL_THREONINE_MODIFICATION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOTIDE_METABOLIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_HEART_DEVELOPMENT;GO_MAMMARY_GLAND_DEVELOPMENT;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_CAFFEINE;GO_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_DRUG_METABOLIC_PROCESS;GO_NUCLEOSIDE_MONOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_ARGININE_METABOLIC_PROCESS;GO_RESPONSE_TO_DRUG;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_GROWTH_FACTOR;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_BODY_FLUID_SECRETION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_METABOLIC_PROCESS;GO_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_RESPONSE_TO_ALCOHOL;GO_UTP_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_DRUG;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_PYRIMIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_LACTATION;GO_NUCLEOBASE_BIOSYNTHETIC_PROCESS	GO_NEURON_PROJECTION_TERMINUS;GO_NEURON_PART;GO_AXON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_NUCLEAR_MATRIX;GO_CELL_BODY;GO_NUCLEAR_PERIPHERY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_AXON_PART;GO_TERMINAL_BOUTON;GO_SYNAPSE_PART	GO_AMINO_ACID_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_CARBON_NITROGEN_LIGASE_ACTIVITY_WITH_GLUTAMINE_AS_AMIDO_N_DONOR;GO_ORGANIC_ACID_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_LIGASE_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM;KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM	PID_MYC_ACTIV_PATHWAY	.	REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000084774-CAD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 10.6	nucleus but not nucleoli	.	BP7
M	2	27551394	rs540058222	T	C	222	PASS	GTF3C2	.	exonic	NM_001035521,NM_001318909,NM_001521	.	missense SNV	GTF3C2:NM_001035521:exon16:c.A2197G:p.I733V,GTF3C2:NM_001318909:exon16:c.A2230G:p.I744V,GTF3C2:NM_001521:exon17:c.A2197G:p.I733V	ENST00000457098.5,ENST00000484680.1,ENST00000264720.7,ENST00000454704.5,ENST00000415683.2,ENSG00000115207.13,ENST00000359541.6	.	2p23.3	.	.	.	.	.	rs540058222	.	.	0	0.002	0.000399361	.	0.00005051	277152	0.00063593	18870	0.00019433	.	.	0.0875	.	0.521,T	0.002,B	0.001,B	0.656073,N	0.013082,N	-1.01,N	-0.6,T	4.5552	2.109	1.373	.	3.91	0.00397520744751	VDB=0.581343;SGB=-0.692562;RPB=0.949869;MQB=8.78099e-08;MQSB=0.485074;BQB=0.819435;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=64;DP4=15,11,17,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:48:255,0,255:26,22	T	C	0	1	.	.	.	.	.	GO_TRNA_METABOLIC_PROCESS;GO_RRNA_TRANSCRIPTION;GO_NCRNA_TRANSCRIPTION;GO_NCRNA_METABOLIC_PROCESS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER	GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX	.	.	.	.	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION	Moderate cytoplasmic and/or membranous positivity was observed in gastric glands, small intestine, exocrine pancreas, parathyroid gland and myocytes. Smooth muscle cells showed strong immunoreactivity. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000115207-GTF3C2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 27.1	.	.	BP4, PM2
H	2	27741783	rs146285804	G	T	124	PASS	GCKR	Glucokinase (hexokinase 4) regulatory protein	exonic	NM_001486	.	missense SNV	GCKR:NM_001486:exon17:c.G1551T:p.W517C	ENSG00000084734.8,ENST00000264717.6	.	2p23.3	.	.	.	.	.	rs146285804	.	.	0.00664452	0.006	0.00119808	.	0.00012989	277160	0.00190779	18870	0.00174893	0.00176056	.	1.0963	.	0.098,T	0.838,P	0.991,D	0.995246,D	0.003010,N	1.1,L	-1.71,D	9.9838	2.211	1.672	5.118106,25.4	4.04	0.036215773277	VDB=0.0831545;SGB=-0.651104;RPB=0.99579;MQB=0.0427719;MQSB=0.865888;BQB=0.79702;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=29;DP4=6,10,3,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:157,0,255:16,8	G	T	0	1	[Fasting plasma glucose level QTL 5], 613463 (3)	.	.	.	19643913|20081858|10588736|10713097|9570959|8662230|24226772|18678614|21886157|18556336|7508874|8589523	GO_ACYLGLYCEROL_HOMEOSTASIS;GO_CHEMICAL_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_PROTEIN_TARGETING;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_PROTEIN_IMPORT;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_LIPID_HOMEOSTASIS;GO_NUCLEAR_TRANSPORT;GO_PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_HEXOKINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_NEGATIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_NUCLEAR_IMPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_URATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	GO_CARBOHYDRATE_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_GLUCOSE_TRANSPORT;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_REGULATION_OF_GLUCOKINASE_BY_GLUCOKINASE_REGULATORY_PROTEIN	Selective nuclear expression in hepatocytes and subset of cells in stomach mucosa.	http://www.proteinatlas.org/ENSG00000084734-GCKR/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 3.3	.	.	PP3
L	2	29455204	rs56304041	C	T	222	PASS	ALK	Anaplastic lymphoma kinase (Ki-1)	exonic	NM_004304	.	synonymous SNV	ALK:NM_004304:exon15:c.G2598A:p.S866S	ENST00000618119.4,ENSG00000171094.16,ENST00000389048.7	.	2p23.2	.	.	Score=809;Name=V$ARP1_01	.	.	rs56304041	.	.	.	.	.	7.7e-05	0.00004690	277210	0.00005299	18870	.	.	.	-1.0209	.	.	.	.	.	.	.	.	.	-1.387	-3.339	1.691365,14.36	.	.	VDB=0.985487;SGB=-0.69311;RPB=0.667357;MQB=2.32064e-08;MQSB=0.231889;BQB=0.675058;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=83;DP4=24,11,28,3;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:66:255,0,255:35,31	C	T	0	1	{Neuroblastoma, susceptibility to, 3}, 613014 (3)	.	.	.	9490693|22071890|18923524|18469826|20979473|12112524|14523447|18923525|18923523|14523446|25337876|7736780|8122112|18724359|17111047|20971950|17625570|23360421|26444240|17922009	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEURON_DEVELOPMENT;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NIK_NF_KAPPAB_SIGNALING;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_CELL_DEVELOPMENT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Neuronal cells and skeletal muscle displayed strong cytoplasmic and nuclear immunoreactivity. Distinct luminal staining was observed in a number of tissues, e.g. the intestine, endometrial glands and fallopian tube. Most other normal tissues showed weak cytoplasmic positivity, sometimes combined with nuclear staining.	http://www.proteinatlas.org/ENSG00000171094-ALK/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 0.5	.	.	BP7, PM2
H	2	46707670	rs60236492	C	T	222	PASS	TMEM247	.	exonic	NM_001145051	.	stopgain	TMEM247:NM_001145051:exon2:c.C244T:p.Q82X	ENST00000432241.5,ENSG00000187600.12,ENST00000434431.2	CpG: 23	2p21	.	.	.	.	.	rs60236492	.	.	0.0448505	0.0417	0.00878594	.	0.00509554	182120	0.05641761	11858	0.03808784	0.04929577	.	-57.9374	.	.	.	.	.	0.001997,N	.	.	14.7885	2.484	3.611	10.428834,36	4.76	.	VDB=0.762274;SGB=-0.693146;RPB=0.999837;MQB=8.86411e-14;MQSB=0.0780769;BQB=0.6043;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=367;DP4=106,33,90,26;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:112:255,0,255:70,42	0/0:100:.:.	0/1:143:255,0,255:69,74	C	T	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000187600-TMEM247/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	placenta: 1.0	.	.	BS1, PP3
L-	2	50574008	rs751162302	GCGCCGCCGCCGC	G	222	PASS	NRXN1	Neurexin 1	exonic	NM_001330091,NM_001330092,NM_001330097,NM_138735	.	nonframeshift deletion	NRXN1:NM_001330091:exon1:c.68_79del:p.23_27del,NRXN1:NM_001330092:exon1:c.68_79del:p.23_27del,NRXN1:NM_001330097:exon1:c.68_79del:p.23_27del,NRXN1:NM_138735:exon1:c.68_79del:p.23_27del	ENST00000406316.6,ENST00000611589.4,ENST00000342183.9,ENST00000331040.9,ENST00000404971.5,ENST00000625672.2,ENST00000401669.6,ENST00000405472.7,ENST00000401710.5,ENST00000637889.1,ENST00000635264.1,ENST00000636298.1,ENST00000630543.2,ENST00000625320.2,ENST00000628364.2,ENSG00000179915.22,ENST00000636818.1	.	2p16.3	.	.	.	.	Score=282;Name="2325095:(CCG)n(Simple_repeat)"	rs751162302	.	.	.	.	.	.	0.00036711	103512	0.00676819	3546	0.00136028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=6.46919e-05;SGB=-0.693132;MQSB=0.987705;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=204;DP4=20,58,9,59;IDV=31;IMF=0.369048;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:30:.:.	0/0:60:255,.,.:26,.	0/0:50:207,.,.:34,.	0/0:30:.:.	0/0:31:.:.	0/0:31:.:.	0/0:30:.:.	0/3:36:255,.,.,.,.,.,0,.,.,255:18,.,.,18	GCGCCGCCGCCGCCGC	GCGCCGC,G,GCGC	0	1	Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3)	.	.	.	18093522|23472757|15797875|23495017|19822762|21424692|9430716|15620359|21964664|22859820|7736595|18179900|17989066|9921901|9448462|12827191|9628581|18812509|11944992|18945720|22617343|12036300|7695896|1621094|18369103|18057082|19896112	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_HINDBRAIN_DEVELOPMENT;GO_METENCEPHALON_DEVELOPMENT;GO_COGNITION;GO_CELL_PART_MORPHOGENESIS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_SYNAPSE_ORGANIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_MEMBRANE_BIOGENESIS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ADULT_BEHAVIOR;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_ALPHA_AMINO_3_HYDROXY_5_METHYL_4_ISOXAZOLE_PROPIONATE_SELECTIVE_GLUTAMATE_RECEPTOR_ACTIVITY;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_CEREBELLAR_CORTEX_MORPHOGENESIS;GO_NEUROTRANSMITTER_TRANSPORT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_MEMBRANE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CALCIUM_DEPENDENT_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_SYNAPTIC_VESICLE_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_SECRETION;GO_CELL_CELL_ADHESION;GO_STARTLE_RESPONSE;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_BEHAVIOR;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_CEREBELLAR_GRANULAR_LAYER_DEVELOPMENT;GO_CEREBELLAR_CORTEX_DEVELOPMENT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_SYNAPSE_MATURATION;GO_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_REGULATION_OF_HORMONE_SECRETION;GO_LEARNING;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PREPULSE_INHIBITION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSTSYNAPTIC_MEMBRANE_ORGANIZATION;GO_INTRASPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_N_METHYL_D_ASPARTATE_SELECTIVE_GLUTAMATE_RECEPTOR_ACTIVITY;GO_CELL_DIFFERENTIATION_IN_HINDBRAIN;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_EXCITATORY_POSTSYNAPTIC_POTENTIAL;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_MODULATION_OF_EXCITATORY_POSTSYNAPTIC_POTENTIAL;GO_ORGANELLE_ASSEMBLY;GO_VOCALIZATION_BEHAVIOR;GO_RESPONSE_TO_AUDITORY_STIMULUS;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_SIGNAL_RELEASE;GO_NEUROGENESIS;GO_REGULATION_OF_INSULIN_SECRETION_INVOLVED_IN_CELLULAR_RESPONSE_TO_GLUCOSE_STIMULUS;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_NEURON_CELL_CELL_ADHESION;GO_SYNAPTIC_SIGNALING;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_HEAD_DEVELOPMENT;GO_HETEROPHILIC_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_HINDBRAIN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_PROTEIN_LOCALIZATION_TO_SYNAPSE;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_NEUROTRANSMITTER_RECEPTOR_ACTIVITY;GO_CEREBELLAR_CORTEX_FORMATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_NEURON_PROJECTION_GUIDANCE;GO_REGULATION_OF_TRANSPORT;GO_MECHANOSENSORY_BEHAVIOR;GO_NEUROMUSCULAR_PROCESS;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ANGIOGENESIS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_SYNAPSE_MATURATION;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BEHAVIOR;GO_DEVELOPMENTAL_MATURATION;GO_BIOLOGICAL_ADHESION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_MULTI_ORGANISM_BEHAVIOR;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RECEPTOR_CLUSTERING;GO_SYNAPSE_ASSEMBLY	GO_NUCLEAR_ENVELOPE;GO_SITE_OF_POLARIZED_GROWTH;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_AXONAL_GROWTH_CONE;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_CELL_SURFACE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_AXON_PART;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_CHANNEL_REGULATOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RECEPTOR_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_CALCIUM_CHANNEL_REGULATOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	.	http://www.proteinatlas.org/ENSG00000179915-NRXN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	testis: 3.1	.	.	.
L	2	54482553	rs17189743	G	A	222	PASS	TSPYL6	.	exonic	NM_001003937	.	missense SNV	TSPYL6:NM_001003937:exon1:c.C736T:p.R246C	ENST00000606865.1,ENST00000317802.8,ENST00000494922.6,ENSG00000170634.12,ENST00000394666.7,ENST00000607452.5,ENSG00000178021.10,ENST00000303536.8	.	2p16.2	.	.	.	.	.	rs17189743	.	.	0.0182724	0.0208	0.0203674	0.0169	0.02823998	277054	0.01913292	18868	0.01165954	0.00880282	.	.	.	0.011,D	0.915,D	0.992,D	0.999999,N	.	1.935,L	1.72,T	5.5915	-0.162	0.124	4.146150,23.8	.	.	VDB=0.30567;SGB=-0.693147;RPB=0.825694;MQB=6.9169e-35;MQSB=0.813309;BQB=0.828124;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=319;DP4=99,33,81,24;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:104:.:.	0/0:100:.:.	0/0:100:.:.	0/1:237:255,0,255:132,105	G	A	0	1	.	.	.	.	.	GO_CHROMOSOME_ORGANIZATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CHROMATIN_ORGANIZATION;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_DNA_PACKAGING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	.	.	.	.	.	.	Highly selective nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000178021-TSPYL6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	cytoplasm; nucleoli; centrosome	.	.
H	2	55184989	.	G	A	104	PASS	EML6	.	exonic	NM_001039753	.	missense SNV	EML6:NM_001039753:exon32:c.G4549A:p.D1517N	ENST00000481376.7,ENSG00000214595.11,ENST00000490828.5,ENST00000356458.6	.	2p16.1	.	.	Score=953;Name=V$AP1_C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3468	Quinonprotein alcohol dehydrogenase-like superfamily;WD40-repeat-containing domain;WD40/YVTN repeat-like-containing domain	0.029,D	0.998,D	1.0,D	0.999996,D	0.000000,D	2.29,M	3.12,T	19.4757	2.669	9.342	6.061905,28.1	5.38	0.00924622931338	VDB=0.618905;SGB=-0.662043;RPB=0.996401;MQB=0.0249144;MQSB=0.528751;BQB=0.924478;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=35;DP4=13,3,9,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:25:137,0,255:16,9	G	A	0	1	.	.	.	.	.	.	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER	.	.	.	.	.	Renal tubules and islets of Langerhans displayed strong cytoplasmic staining. The thyroid, fibroblasts and neuronal cells in lateral ventricle were moderately positive. Membranous positivity was observed in the small intestine. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000214595-EML6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 5.1	mitochondria; vesicles	.	PM1, PM2
H	2	61389995	rs769157049	TAA	T	222	PASS	C2orf74	.	exonic	NM_001143959	.	frameshift deletion	C2orf74:NM_001143959:exon2:c.136_137del:p.K46fs	ENST00000432605.1,ENST00000462959.2,ENST00000464909.2,ENST00000398622.3,ENSG00000237651.6,ENSG00000274769.1,ENST00000488469.3,ENST00000489686.5,ENST00000426997.5	.	2p15	.	.	.	.	.	rs769157049	.	.	.	.	.	.	0.00006578	152012	0.00096098	10406	0.00038865	0.00176056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.260796;SGB=-0.692067;MQSB=0.986668;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=57;DP4=20,10,13,7;IDV=23;IMF=0.396552;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:50:255,0,255:30,20	TAA	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues showed moderate to strong cytoplasmic immunoreactivity. Glial cells, smooth and skeletal muscle cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000237651-C2orf74/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 34.7	centrosome	.	PM2
H	2	63720067	rs144703991	T	A	222	PASS	WDPCP	WD repeat-containing planar cell polarity effector	exonic	NM_015910	.	missense SNV	WDPCP:NM_015910:exon2:c.A83T:p.D28V	ENST00000467687.1,ENST00000409835.5,ENSG00000143951.15,ENST00000490935.5,ENST00000409562.7,ENST00000272321.11,ENST00000417238.5,ENST00000418148.5,ENST00000431065.1	.	2p15	.	.	.	.	.	rs144703991	Uncertain significance;Bardet-Biedl_syndrome;RCV000296966.1;MedGen:OMIM:Orphanet:SNOMED_CT;C0752166:209900:ORPHA110:5619004	.	0.0149502	0.0198	0.00638978	0.0002	0.00149373	275150	0.01477152	18820	0.00699844	0.00704225	.	-2.6674	.	0.012,D	0.316,B	0.815,P	0.511802,D	0.030388,N	1.525,L	-0.15,T	3.9683	2.171	1.123	2.404917,18.85	5.38	.	VDB=0.00422778;SGB=-0.69168;RPB=0.999112;MQB=1.03855e-05;MQSB=0.991996;BQB=0.965002;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=119;DP4=23,25,19,30;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:39:20,19	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:30:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:58:28,30	T	A	0	2	?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive	.	.	.	15654087|24302887|20671153|25427950	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_EMBRYONIC_DIGIT_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_RUFFLE_ASSEMBLY;GO_REGULATION_OF_FIBROBLAST_MIGRATION;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_PALATE_DEVELOPMENT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EAR_DEVELOPMENT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_TISSUE_MIGRATION;GO_CILIUM_ORGANIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_APPENDAGE_DEVELOPMENT;GO_LOCOMOTION;GO_ORGANELLE_ASSEMBLY;GO_AUDITORY_RECEPTOR_CELL_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DEVELOPMENT;GO_EAR_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_EPIDERMIS_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_AUDITORY_RECEPTOR_CELL_DEVELOPMENT;GO_MECHANORECEPTOR_DIFFERENTIATION;GO_HAIR_CELL_DIFFERENTIATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_SMOOTHENED_SIGNALING_PATHWAY;GO_EYE_DEVELOPMENT;GO_PROTEIN_LOCALIZATION;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_NEUROEPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_EMBRYONIC_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_AUDITORY_RECEPTOR_CELL_MORPHOGENESIS;GO_INNER_EAR_RECEPTOR_CELL_DEVELOPMENT;GO_INNER_EAR_MORPHOGENESIS;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_CYTOPLASMIC_REGION;GO_APICAL_PART_OF_CELL;GO_CILIARY_PART;GO_CYTOSKELETON;GO_AXONEME_PART;GO_APICAL_PLASMA_MEMBRANE;GO_CELL_CORTEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CILIARY_PLASM;GO_MEMBRANE_REGION;GO_CILIUM	.	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic positivity. Neuronal cells and glial cells were strongly stained. Hematopoietic cells, liver, spleen and pneumocytes were negative.	http://www.proteinatlas.org/ENSG00000143951-WDPCP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 4.0	cell junctions	.	.
L	2	71160172	rs144443163	G	A	222	PASS	VAX2	Ventral anterior homeo box 2	exonic	NM_012476	.	synonymous SNV	VAX2:NM_012476:exon3:c.G711A:p.A237A	ENST00000234392.2,ENSG00000116035.2	.	2p13.3	.	.	Score=802;Name=V$TAXCREB_01	.	.	rs144443163	.	.	0	.	0.000399361	0.0008	0.00021053	261242	0.00033282	18028	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.518	-1.573	.	.	.	VDB=0.329269;SGB=-0.693147;RPB=0.605837;MQB=2.88185e-16;MQSB=0.890345;BQB=0.964239;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=184;DP4=38,29,42,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:136:255,0,255:67,69	G	A	0	1	Ventral anterior homeo box 2, 604295	.	.	.	9300667|8640222|10485894|17043310|15905411	GO_NEURON_DEVELOPMENT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_AXIS_SPECIFICATION;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_WNT_SIGNALING_PATHWAY;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_FOREBRAIN_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_ECTODERM_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_ORGAN_MORPHOGENESIS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_HEAD_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_EYE_DEVELOPMENT;GO_EMBRYONIC_EYE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_DORSAL_VENTRAL_AXIS_SPECIFICATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_PATTERN_SPECIFICATION_PROCESS;GO_CELL_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EYE_MORPHOGENESIS	.	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_INTRONIC_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CHROMATIN_DNA_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000116035-VAX2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 0.4	nucleus but not nucleoli	.	BP7, PM2
H	2	71212381	rs141581897	G	A	222	PASS	ANKRD53	Ankyrin repeat domain-containing protein 53	exonic	NM_001115116	.	missense SNV	ANKRD53:NM_001115116:exon6:c.G1544A:p.R515Q	ENST00000272421.10,ENST00000606025.5,ENST00000360589.3,ENST00000457410.5,ENSG00000258881.6,ENST00000441349.5,ENSG00000144031.11,ENST00000453130.1	.	2p13.3	.	.	.	.	.	rs141581897	.	.	0.0398671	0.0456	0.00938498	.	0.00313887	181594	0.04645643	11796	0.03867081	0.02904930	.	.	.	0.103,T	0.022,B	0.493,P	1,N	0.948311,N	1.085,L	-0.03,T	7.5625	-0.075	-0.156	.	.	.	VDB=0.48817;SGB=-0.693021;RPB=0.402113;MQB=8.13683e-09;MQSB=0.0773355;BQB=0.841797;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=137;DP4=4,57,16,42;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:31:.:.	0/1:66:255,0,239:39,27	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:53:255,0,222:22,31	G	A	0	2	Ankyrin repeat domain-containing protein 53, 617009	.	.	.	26820536	.	.	.	.	.	.	.	Strong cytoplasmic positivity was observed in subsets of placental decidual cells and renal tubules. Lung macrophages, gastrointestinal tract, male genital tract, exocrine pancreas, spleen, melanocytes and endothelial cells showed weak to moderate staining. Thyroid showed moderate cytoplasmic and membranous staining. Remaining normal tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000144031-ANKRD53/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 2.5	.	.	BS1
H	2	71591317	.	G	A	222	PASS	ZNF638	Zinc finger protein 638	exonic	NM_001014972,NM_001252612,NM_001252613,NM_014497	.	missense SNV	ZNF638:NM_001014972:exon5:c.G1652A:p.G551D,ZNF638:NM_001252612:exon5:c.G1652A:p.G551D,ZNF638:NM_001252613:exon5:c.G1652A:p.G551D,ZNF638:NM_014497:exon5:c.G1652A:p.G551D	ENST00000494621.5,ENST00000464375.5,ENSG00000075292.18,ENST00000409544.5,ENST00000466330.5,ENST00000466975.5,ENST00000264447.8,ENST00000475743.1,ENST00000410075.5	.	2p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5838	.	0.035,D	0.892,P	0.999,D	0.999206,N	0.013889,N	2.35,M	-0.07,T	4.4554	0.195	0.512	2.275719,18.01	2.35	0.00776917901586	VDB=0.571433;SGB=-0.692914;RPB=0.591373;MQB=0.000154292;MQSB=0.97954;BQB=0.919386;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=10,7,14,11;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:32:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:42:255,0,255:17,25	G	A	0	1	Zinc finger protein 638, 614349	.	.	.	8647861|21602272|11813260	GO_RNA_PROCESSING;GO_RNA_SPLICING	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000075292-ZNF638/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 31.4	nucleus but not nucleoli; vesicles	.	PM2
L	2	71654522	rs145701404	C	G	209	PASS	ZNF638	Zinc finger protein 638	exonic	NM_001014972,NM_001252612,NM_001252613,NM_014497	.	synonymous SNV	ZNF638:NM_001014972:exon24:c.C5523G:p.T1841T,ZNF638:NM_001252612:exon24:c.C5523G:p.T1841T,ZNF638:NM_001252613:exon24:c.C5523G:p.T1841T,ZNF638:NM_014497:exon24:c.C5523G:p.T1841T	ENSG00000075292.18,ENST00000409544.5,ENST00000483421.7,ENST00000461991.3,ENST00000264447.8,ENST00000472758.5,ENST00000493576.6,ENST00000492262.1,ENST00000487638.5,ENST00000409407.4	.	2p13.2	.	.	.	.	.	rs145701404	.	.	0.0149502	0.0099	0.00199681	.	0.00077405	236418	0.01043767	16862	0.00369650	0.00352113	.	0.0912	.	.	.	.	.	.	.	.	.	0.337	0.448	.	.	.	VDB=0.37995;SGB=-0.683931;RPB=0.654399;MQB=0.0028799;MQSB=0.207008;BQB=0.214711;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=25;DP4=4,2,3,10;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:19:242,0,174:6,13	C	G	0	1	Zinc finger protein 638, 614349	.	.	.	8647861|21602272|11813260	GO_RNA_PROCESSING;GO_RNA_SPLICING	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000075292-ZNF638/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 31.4	nucleus but not nucleoli; vesicles	.	BP7
L	2	71708047	rs369755508	C	T	222	PASS	DYSF	Dysferlin	exonic	NM_001130455,NM_001130976,NM_001130977,NM_001130978,NM_001130979,NM_001130980,NM_001130981,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130986,NM_001130987,NM_003494	.	synonymous SNV	DYSF:NM_001130455:exon2:c.C126T:p.S42S,DYSF:NM_001130976:exon2:c.C123T:p.S41S,DYSF:NM_001130977:exon2:c.C123T:p.S41S,DYSF:NM_001130978:exon2:c.C123T:p.S41S,DYSF:NM_001130979:exon2:c.C123T:p.S41S,DYSF:NM_001130980:exon2:c.C123T:p.S41S,DYSF:NM_001130981:exon2:c.C123T:p.S41S,DYSF:NM_001130982:exon2:c.C126T:p.S42S,DYSF:NM_001130983:exon2:c.C126T:p.S42S,DYSF:NM_001130984:exon2:c.C126T:p.S42S,DYSF:NM_001130985:exon2:c.C126T:p.S42S,DYSF:NM_001130986:exon2:c.C126T:p.S42S,DYSF:NM_001130987:exon2:c.C126T:p.S42S,DYSF:NM_003494:exon2:c.C123T:p.S41S	ENST00000410020.7,ENST00000394120.6,ENST00000409366.5,ENST00000409651.5,ENST00000409582.7,ENST00000413539.6,ENST00000258104.7,ENST00000429174.6,ENST00000409744.5,ENST00000409762.5,ENSG00000135636.13,ENST00000410041.1	.	2p13.2	.	.	.	.	.	rs369755508	.	.	.	.	.	7.7e-05	0.00005411	277236	0.00052994	18870	.	.	.	-0.5579	.	.	.	.	.	.	.	.	.	-1.502	-2.671	2.195829,17.48	.	.	VDB=0.713427;SGB=-0.692914;RPB=0.502832;MQB=1.85018e-06;MQSB=0.93308;BQB=0.842084;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=63;DP4=17,5,16,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:46:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:47:255,0,255:22,25	C	T	0	1	Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, type 2B, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive	.	.	.	10196375|11468312|12736685|9731527|8012357|10508505|10995573|19286669|17331981|20373350|17607357|15254015|17287450|11198284|11134403|9192858|9009996|9731526|9570945|1483054|11532985|10766988|17698709|19084402|16896923|19221801|20535123|16606933|18306167|12796534|16996541|16087766|10196377|8808603	GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_VESICLE_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_MEMBRANE_FUSION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_WOUND_HEALING;GO_MUSCLE_CONTRACTION;GO_ORGANELLE_MEMBRANE_FUSION;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_SYSTEM_PROCESS;GO_MUSCLE_SYSTEM_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_ORGANELLE_FUSION	GO_VESICLE_MEMBRANE;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_LATE_ENDOSOME;GO_LAMELLIPODIUM;GO_CYTOPLASMIC_VESICLE_PART;GO_T_TUBULE;GO_SARCOLEMMA;GO_CELL_PROJECTION;GO_CELL_LEADING_EDGE;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_CALCIUM_ION_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	Selective cytoplasmic expression, most abundant in muscle cells, hematopoietic cells, placental trophoblasts and endothelial cells.	http://www.proteinatlas.org/ENSG00000135636-DYSF/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skeletal muscle: 23.6	.	.	BP7, PM2
H	2	74425769	rs199529089	A	G	222	PASS	MTHFD2	.	exonic	NM_006636	.	missense SNV	MTHFD2:NM_006636:exon1:c.A1G:p.M1V	ENST00000394053.6,ENST00000488086.1,ENST00000489041.1,ENST00000477455.5,ENST00000409601.1,ENST00000409804.5,ENSG00000065911.11,ENST00000470592.5	CpG: 109	2p13.1	.	.	.	.	.	rs199529089	.	.	0.00830565	0.005	0.000998403	.	0.00048688	264952	0.00675014	18370	0.00310921	0.00440141	.	.	.	0.0,D	0.761,P	0.713,P	1,D	.	.	1.01,T	10.6339	2.287	1.701	2.671697,20.6	4.58	.	VDB=0.0874873;SGB=-0.693147;RPB=0.444584;MQB=1.57722e-16;MQSB=0.964273;BQB=0.999552;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=129;DP4=38,20,29,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:100:.:.	0/1:103:255,0,255:58,45	A	G	0	1	.	.	.	.	.	GO_ALPHA_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_DICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_PTERIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_FOLIC_ACID_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PTERIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_TETRAHYDROFOLATE_METABOLIC_PROCESS;GO_ONE_CARBON_METABOLIC_PROCESS;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_COENZYME_BIOSYNTHETIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_FOLIC_ACID_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_VITAMIN_METABOLIC_PROCESS;GO_FOLIC_ACID_METABOLIC_PROCESS;GO_COFACTOR_BIOSYNTHETIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_EXTRACELLULAR_SPACE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES;GO_MAGNESIUM_ION_BINDING;GO_PHOSPHATE_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;GO_OXIDOREDUCTASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;GO_LIGASE_ACTIVITY	KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	.	Granular cytoplasmic expression in leukocytes.	http://www.proteinatlas.org/ENSG00000065911-MTHFD2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	appendix: 29.0	.	.	PP3
L	2	80773097	rs779989636	C	T	222	PASS	CTNNA2	Catenin, alpha-2 (cadherin-associated protein, related)	exonic	NM_001164883,NM_001282597,NM_001282598,NM_001282599,NM_001282600,NM_001320810,NM_004389	.	synonymous SNV	CTNNA2:NM_001282599:exon5:c.C486T:p.D162D,CTNNA2:NM_001282600:exon5:c.C345T:p.D115D,CTNNA2:NM_001320810:exon5:c.C345T:p.D115D,CTNNA2:NM_001164883:exon11:c.C1449T:p.D483D,CTNNA2:NM_001282597:exon11:c.C1449T:p.D483D,CTNNA2:NM_001282598:exon11:c.C1551T:p.D517D,CTNNA2:NM_004389:exon11:c.C1449T:p.D483D	ENST00000465616.1,ENST00000343114.7,ENST00000629316.2,ENST00000541047.5,ENST00000496558.5,ENST00000540488.5,ENST00000409550.2,ENST00000466387.5,ENST00000402739.8,ENST00000361291.8,ENST00000493024.5,ENSG00000066032.18	.	2p12	.	.	.	.	.	rs779989636	.	.	.	.	.	.	0.00003973	276900	0.00053175	18806	0.00019433	0.00088339	.	-0.3535	.	.	.	.	.	.	.	.	.	-3.088	-1.762	1.462767,13.12	.	.	VDB=0.581891;SGB=-0.692562;RPB=0.799721;MQB=1.81253e-09;MQSB=0.89009;BQB=0.959265;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=83;DP4=28,18,13,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:68:255,0,255:46,22	C	T	0	1	Catenin, alpha-2 (cadherin-associated protein, related), 114025	.	.	.	15034585|8432524|9060409|3142762|1924379|12089526	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_HINDBRAIN_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_STARTLE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_PREPULSE_INHIBITION;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_HEAD_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_MIGRATION_IN_HINDBRAIN;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEUROMUSCULAR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_BRAIN_MORPHOGENESIS	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_EXCITATORY_SYNAPSE;GO_ACTIN_CYTOSKELETON;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_SYNAPSE;GO_CELL_CELL_ADHERENS_JUNCTION;GO_NEURON_PROJECTION;GO_LAMELLIPODIUM;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_SYNAPSE_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_CELL_ADHESION_MOLECULE_BINDING;GO_CADHERIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_ADHERENS_JUNCTION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	.	BIOCARTA_CELL2CELL_PATHWAY	.	Cytoplasmic expression in a few tissues including the CNS.	http://www.proteinatlas.org/ENSG00000066032-CTNNA2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	endometrium: 4.5	.	.	BP7, PM2
H	2	84670528	rs141973418	A	G	222	PASS	SUCLG1	Succinate-CoA ligase, alpha subunit	splicing	NM_003849	NM_003849:exon3:c.202-4T>C	.	.	ENSG00000163541.11,ENST00000442240.5,ENST00000430989.1,ENST00000483605.5,ENST00000491642.5,ENST00000393868.6	.	2p11.2	.	.	.	.	.	rs141973418	Benign|Uncertain significance|Uncertain significance;not_specified|Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9_(encephalomyopathic_with_methylmalonic_aciduria);RCV000128336.2|RCV000310983.1|RCV000356495.1;MedGen|MedGen|MedGen:OMIM:Orphanet;CN169374|CN239350|C3151476:245400:ORPHA17	.	0.0365449	0.0248	0.00499201	.	0.00156676	277004	0.02178753	18864	0.01321415	0.01672535	0.0001,0.004	-0.8599	.	.	.	.	.	.	.	.	.	0.112	-1.386	1.365036,12.61	2.09	.	VDB=0.242607;SGB=-0.691153;RPB=0.50474;MQB=2.17534e-07;MQSB=0.957852;BQB=0.995163;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=58;DP4=11,14,8,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:33:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:255,0,255:25,18	A	G	0	1	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive	.	.	.	9128182|17668387|19526370|20693550	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_THIOESTER_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_AEROBIC_RESPIRATION;GO_DICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_RESPIRATION;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_TRICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_LIGASE_ACTIVITY_FORMING_CARBON_SULFUR_BONDS;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_COFACTOR_BINDING;GO_POLY_A_RNA_BINDING;GO_ACID_THIOL_LIGASE_ACTIVITY;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	KEGG_CITRATE_CYCLE_TCA_CYCLE;KEGG_PROPANOATE_METABOLISM	.	.	REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE;REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_CITRIC_ACID_CYCLE_TCA_CYCLE	Cytoplasmic expression with a granular pattern in most tissues.	http://www.proteinatlas.org/ENSG00000163541-SUCLG1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 265.9	mitochondria; plasma membrane	.	BP6
H	2	84861727	rs571512486	C	G	222	PASS	DNAH6	Dynein, axonemal, heavy chain 6	exonic	NM_001370	.	missense SNV	DNAH6:NM_001370:exon30:c.C4615G:p.Q1539E	ENSG00000115423.18,ENST00000389394.7,ENST00000237449.10	.	2p11.2	.	.	Score=840;Name=V$RFX1_01	.	.	rs571512486	.	.	0.00498339	0.003	0.000599042	.	0.00022818	179682	0.00345125	11590	0.00136028	0.00088810	.	0.7319	AAA+ ATPase domain;P-loop containing nucleoside triphosphate hydrolase	0.0,D	0.773,P	0.938,P	0.508735,N	.	2.215,M	3.01,T	18.7696	2.733	2.123	5.363489,25.9	5.78	0.0184729541633	VDB=0.0469251;SGB=-0.693139;RPB=0.363476;MQB=1.34961e-07;MQSB=0.68364;BQB=0.998325;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=80;DP4=14,7,26,10;MinDP=27;AN=18;AC=1	GT:DP:PL:AD	0/0:27:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:57:255,0,255:21,36	C	G	0	1	Dynein, axonemal, heavy chain 6, 603336	.	.	.	28206990|26918822|11175280|11214970|15937072|8812413	GO_MICROTUBULE_BASED_PROCESS;GO_CELL_MOTILITY;GO_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MICROTUBULE_BASED_MOVEMENT	GO_MICROTUBULE_CYTOSKELETON;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_AXONEME_PART;GO_DYNEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CILIARY_PLASM;GO_CILIUM;GO_AXONEMAL_DYNEIN_COMPLEX	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Selective expression in cilia in fallopian tube and respiratory epithelia.	http://www.proteinatlas.org/ENSG00000115423-DNAH6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 2.6	plasma membrane; cytoplasm; nucleus but not nucleoli	.	PM1, PM2
L	2	85577182	rs141214963	G	A	196	PASS	RETSAT	Retinol saturase	exonic	NM_017750	.	synonymous SNV	RETSAT:NM_017750:exon4:c.C780T:p.S260S	ENSG00000042445.13,ENST00000409984.2,ENST00000295802.8,ENST00000449375.1,ENST00000482694.1,ENST00000429806.5	.	2p11.2	.	.	.	.	.	rs141214963	.	.	0.0415282	0.0397	0.00798722	.	0.00267992	276874	0.03700562	18862	0.02759425	0.03961268	.	-0.1620	.	.	.	.	1,D	.	.	.	8.703	1.414	3.612	1.250888,12.01	4.84	.	VDB=0.722392;SGB=-0.692831;RPB=0.961558;MQB=3.01288e-07;MQSB=0.957447;BQB=0.988813;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=61;DP4=24,1,23,1;MinDP=28;AN=18;AC=1	GT:DP:PL:AD	0/0:33:.:.	0/0:30:.:.	0/0:55:.:.	0/0:54:.:.	0/0:28:.:.	0/0:52:.:.	0/0:32:.:.	0/0:31:.:.	0/1:49:229,0,241:25,24	G	A	0	1	Retinol saturase, 617597	.	.	.	15358783|19139408	GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_RETINOL_METABOLIC_PROCESS;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_HORMONE_METABOLIC_PROCESS;GO_PRIMARY_ALCOHOL_METABOLIC_PROCESS	GO_NUCLEAR_ENVELOPE;GO_NUCLEAR_OUTER_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_OUTER_MEMBRANE;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_RETINOL_METABOLISM	.	.	.	Most normal cells displayed cytoplasmic with a granular pattern. Distinct staining was for example observed in thyroid gland, basal layer of the prostate and renal tubules. Glia and most lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000042445-RETSAT/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 167.1	nucleoli	.	BS1
L	2	86371648	rs117502474	G	A	222	PASS	IMMT	Inner membrane protein, mitochondrial (mitofilin)	exonic	NM_001100169,NM_001100170,NM_006839	.	synonymous SNV	IMMT:NM_001100169:exon15:c.C2017T:p.L673L,IMMT:NM_001100170:exon15:c.C1987T:p.L663L,IMMT:NM_006839:exon15:c.C2020T:p.L674L	ENST00000409051.6,ENST00000620815.4,ENSG00000132305.20,ENST00000254636.9,ENST00000449247.6,ENST00000442664.6,ENST00000419070.6,ENST00000410111.7	.	2p11.2	.	.	.	.	.	rs117502474	.	.	0.0332226	0.0278	0.00559105	.	0.00238528	277116	0.03361255	18862	0.03925379	0.02904930	.	.	.	.	.	.	1,D	.	.	.	11.6366	0.847	3.178	.	3.59	.	VDB=0.807779;SGB=-0.691153;RPB=0.997226;MQB=4.53999e-05;MQSB=0.662397;BQB=0.535261;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=122;DP4=39,18,30,10;MinDP=18;AN=18;AC=2	GT:DP:PL:AD	0/0:18:.:.	0/0:50:.:.	0/1:48:255,0,255:30,18	0/0:46:.:.	0/0:23:.:.	0/0:31:.:.	0/0:31:.:.	0/0:36:.:.	0/1:49:255,0,255:27,22	G	A	0	2	Inner membrane protein, mitochondrial (mitofilin), 600378	.	.	.	22228767|9168817|8039717|15647377|21944719|17624330	GO_CHEMICAL_HOMEOSTASIS;GO_HOMEOSTATIC_PROCESS;GO_CRISTAE_FORMATION;GO_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_MITOCHONDRION_ORGANIZATION;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELLULAR_HOMEOSTASIS	GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_ORGANELLE_INNER_MEMBRANE;GO_MYELIN_SHEATH;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_MEMBRANE_PROTEIN_COMPLEX;GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_INNER_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_MEMBRANE;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MITOCHONDRIAL_PROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	General cytoplasmic expression most abundant in heart, stomach, renal tubules and parathyroid.	http://www.proteinatlas.org/ENSG00000132305-IMMT/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 82.9	mitochondria	.	BS1
L	2	86831701	rs143334428	G	A	222	PASS	RNF103	.	exonic	NM_001198951,NM_005667	.	synonymous SNV	RNF103:NM_005667:exon4:c.C1323T:p.N441N,RNF103:NM_001198951:exon5:c.C1311T:p.N437N	ENST00000426549.1,ENSG00000228363.2,ENSG00000239305.6,ENST00000472030.1,ENST00000440757.2,ENST00000604011.5,ENST00000424788.1,ENSG00000249884.8,ENST00000439077.1,ENST00000597638.1,ENST00000237455.4,ENST00000463333.6	.	2p11.2	.	.	.	.	.	rs143334428	.	.	0.013289	0.0169	0.00359425	0.0002	0.00096740	277032	0.01229465	18870	0.01107656	0.01320423	.	.	.	.	.	.	.	.	.	.	.	1.377	1.355	.	3.79	.	VDB=0.916306;SGB=-0.692562;RPB=0.432953;MQB=2.61854e-06;MQSB=0.242309;BQB=0.111429;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=157;DP4=45,22,29,23;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:43:.:.	0/1:54:255,0,255:32,22	0/0:50:.:.	0/0:30:.:.	0/0:43:.:.	0/0:30:.:.	0/0:50:.:.	0/1:65:255,0,255:35,30	G	A	0	2	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_ER_ASSOCIATED_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_ERAD_PATHWAY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_PROTEOLYSIS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in several tissues, most abundant in smooth muscle.	http://www.proteinatlas.org/ENSG00000239305-RNF103/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 19.9	.	.	.
H	2	88387389	rs200005035	C	T	225	PASS	SMYD1	.	exonic	NM_001330364,NM_198274	.	missense SNV	SMYD1:NM_001330364:exon3:c.C323T:p.A108V,SMYD1:NM_198274:exon3:c.C323T:p.A108V	ENST00000419482.6,ENSG00000115593.14,ENST00000468008.1,ENST00000438570.1,ENST00000444564.2	.	2p11.2	.	.	Score=814;Name=V$MYCMAX_03	.	.	rs200005035	.	.	0.00332226	0.004	0.000798722	.	0.00084288	242026	0.01148237	17418	0.00738438	0.00528169	.	0.0057	SET domain	0.004,D	0.876,P	0.997,D	1,D	0.000004,D	2.33,M	1.77,T	17.2354	2.363	4.559	6.143874,28.4	4.82	.	VDB=0.323516;SGB=-0.69311;MQSB=0.903707;MQ0F=0;MQ=39;RPB=0.839591;MQB=2.99887e-09;BQB=0.993762;ICB=1;HOB=0.5;DP=113;DP4=26,4,47,11;MinDP=10;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:42:.:.	0/0:31:.:.	1/1:31:255,93,0:0,31	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:57:255,0,255:30,27	C	T	1	1	.	.	.	.	.	GO_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_CHROMOSOME_ORGANIZATION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_HISTONE_METHYLATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_REGULATION_OF_MYOBLAST_DIFFERENTIATION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CHROMATIN_MODIFICATION;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_CHROMATIN_ORGANIZATION;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_MYOBLAST_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_SKELETAL_MUSCLE_CELL_DIFFERENTIATION;GO_CHROMATIN_REMODELING;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_PROTEIN_ALKYLATION;GO_PEPTIDYL_LYSINE_METHYLATION;GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	.	GO_N_METHYLTRANSFERASE_ACTIVITY;GO_PROTEIN_METHYLTRANSFERASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_HISTONE_LYSINE_N_METHYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_LYSINE_N_METHYLTRANSFERASE_ACTIVITY;GO_HISTONE_METHYLTRANSFERASE_ACTIVITY	.	.	.	.	Selective cytoplasmic expression in skeletal and heart myocytes.	http://www.proteinatlas.org/ENSG00000115593-SMYD1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	smooth muscle: 21.6	.	.	PM1, PP3
M-	2	88828670	rs201177266	C	T	222	PASS	TEX37	.	exonic	NM_152670	.	missense SNV	TEX37:NM_152670:exon4:c.C221T:p.P74L	ENSG00000172073.3,ENST00000303254.3	.	2p11.2	.	.	Score=911;Name=V$TCF11_01	.	.	rs201177266	.	.	0.00332226	0.003	0.000599042	.	0.00002886	277224	0.00042395	18870	0.00038865	0.00176056	.	.	.	1.0,T	0.015,B	0.008,B	0.999999,N	0.220608,N	1.5,L	0.98,T	7.5851	-0.184	-1.261	.	.	0.00175708042699	VDB=0.155083;SGB=-0.693147;RPB=0.980895;MQB=8.68793e-22;MQSB=0.990693;BQB=0.964076;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=214;DP4=74,26,47,15;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:162:255,0,255:100,62	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Moderate to strong nuclear staining was observed in a fraction of cells in respiratory epithelia, squamous epithelia, gastrointestinal tract, urothelia, testis, lymphoid tissues, bone marrow, breast and female genitalia. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000172073-TEX37/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	placenta: 0.1	.	.	BP4, PM2
M	2	97482168	rs373902792	G	A	185	PASS	CNNM3	Cyclin M3	exonic	NM_017623,NM_199078	.	missense SNV	CNNM3:NM_017623:exon1:c.G154A:p.G52R,CNNM3:NM_199078:exon1:c.G154A:p.G52R	ENST00000377060.7,ENSG00000168763.15,ENST00000305510.3	CpG: 228	2q11.2	.	.	.	.	.	rs373902792	.	.	0.0149502	0.0129	0.00259585	.	0.00080339	54768	0.02020202	1980	0.01108518	0.01063830	.	.	.	0.539,T	0.002,B	0.0,B	1,N	0.001846,U	0.345,N	-2.29,D	1.3029	0.229	0.116	.	.	.	VDB=0.594311;SGB=-0.651104;RPB=0.218985;MQB=0.0672055;MQSB=0.99115;BQB=0.997919;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=45;DP4=11,5,8,7;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:14:218,0,172:6,8	0/0:10:.:.	0/1:17:179,0,251:10,7	G	A	0	2	Cyclin M3, 607804	.	.	.	12657465|14723793	GO_ION_TRANSPORT	.	.	.	.	.	.	Ubiquitous cytoplasmic with occasional membranous expression at variable levels.	http://www.proteinatlas.org/ENSG00000168763-CNNM3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 13.0	cytoplasm	.	BP4
H	2	97626136	rs564261050	G	A	222	PASS	FAM178B	.	exonic	NM_001122646	.	missense SNV	FAM178B:NM_001122646:exon6:c.C776T:p.P259L	ENSG00000168754.14,ENST00000490605.2	.	2q11.2	.	.	.	.	.	rs564261050	.	.	0.00166113	0.001	0.000199681	.	0.00003302	151444	0.00029331	10228	0.00019433	0.00088028	.	-0.1472	.	0.001,D	.	.	0.885906,D	0.536979,U	2.725,M	0.44,T	13.5779	2.280	4.390	5.500099,26.2	4.91	0.255101178241	VDB=0.195258;SGB=-0.693147;RPB=0.651935;MQB=9.31611e-18;MQSB=0.921745;BQB=0.977274;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=162;DP4=51,25,36,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:100:.:.	0/1:126:255,0,255:76,49	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in a selected group of tissues, most abundant in spleen. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000168754-FAM178B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	fallopian tube: 1.1	.	.	PM2, PP3
L	2	97790243	rs367670018	ATTC	A	222	PASS	ANKRD36	.	exonic	NM_001164315	.	nonframeshift deletion	ANKRD36:NM_001164315:exon5:c.641_643del:p.214_215del	ENSG00000135976.17,ENST00000639293.1,ENST00000461153.6,ENST00000420699.6,ENST00000620383.1	.	2q11.2	.	.	.	Score=0.959543;Name=chr2:98174273	.	rs367670018	.	.	0.038206	0.0367	0.00738818	.	0.00284273	186792	0.04076936	12166	0.04920264	0.04489437	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.476810,1.802	.	.	INDEL;VDB=0.00446244;SGB=-0.683931;MQSB=0.920244;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=62;DP4=26,3,15,8;IDV=15;IMF=0.423077;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:29:16,13	0/0:.:10:.	0/0:.:30:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:30:.	0/0:.:10:.	0/1:250,0,230:23:13,10	ATTC	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000135976-ANKRD36/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 3.8	.	.	BS1, PM4
M	2	99012373	rs148616345	C	T	222	PASS	CNGA3	Cyclic nucleotide-gated channel, alpha-3	exonic	NM_001079878,NM_001298	.	missense SNV	CNGA3:NM_001079878:exon7:c.C686T:p.T229M,CNGA3:NM_001298:exon8:c.C740T:p.T247M	ENST00000393504.5,ENST00000436404.6,ENSG00000144191.11,ENST00000409937.1,ENST00000272602.6	.	2q11.2	.	.	.	.	.	rs148616345	Uncertain significance;not_specified;RCV000180215.1;MedGen;CN169374	.	0.00166113	0.005	0.00139776	0.0017	0.00115438	277206	0.00312666	18870	0.00408084	0.00176056	.	.	Ion transport domain	0.245,T	0.025,B	0.016,B	1,N	0.038783,N	0.865,L	-4.41,D	8.5107	0.099	0.296	.	.	0.0234353830317	VDB=0.731609;SGB=-0.693145;RPB=0.953813;MQB=5.15326e-14;MQSB=0.657547;BQB=0.96531;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=146;DP4=52,20,34,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/1:113:255,0,255:72,41	C	T	0	1	Achromatopsia 2, 216900 (3), Autosomal recessive	.	Cone dystrophy(CM148763)	ACG-ATG|Thr247Met|c.740C>T|p.T247M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=24903488&amp;dopt=Abstract)	24903488|8170936|19767295|12808468|9662398|25637600|10888875|21901789|11536077|9721202|17265047|7513422|20549516|12432397	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_SENSORY_PERCEPTION;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_RESPONSE_TO_STEROID_HORMONE;GO_RESPONSE_TO_CORTICOSTEROID;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_RESPONSE_TO_MAGNESIUM_ION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_CAMP;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND	GO_CELL_PROJECTION_MEMBRANE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_PHOTORECEPTOR_OUTER_SEGMENT_MEMBRANE;GO_CILIARY_PART;GO_NEURON_PROJECTION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NONMOTILE_PRIMARY_CILIUM;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CILIARY_MEMBRANE;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_PRIMARY_CILIUM;GO_PERIKARYON;GO_MEMBRANE_REGION;GO_CILIUM;GO_PHOTORECEPTOR_OUTER_SEGMENT;GO_DENDRITE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_CYCLIC_NUCLEOTIDE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PROTEIN_C_TERMINUS_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CYCLIC_NUCLEOTIDE_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CGMP_BINDING;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_INTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	PID_CONE_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000144191-CNGA3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 1.3	.	.	BP4, PM1, PP2
H	2	99181234	rs201695585	G	A	222	PASS	INPP4A	Inositol polyphosphate-4-phosphatase, type I, 107kD	splicing	NM_001134224,NM_001134225,NM_001351424,NM_001351425,NM_001351426,NM_001351427,NM_001351428,NM_001351429,NM_001566,NM_004027	NM_001134224:exon20:c.2167+8G>A;NM_001134225:exon19:c.2152+8G>A;NM_001351424:exon20:c.2053+8G>A;NM_001351425:exon20:c.2053+8G>A;NM_001351426:exon20:c.2053+8G>A;NM_001351427:exon20:c.2050+8G>A;NM_001351428:exon19:c.2035+8G>A;NM_001351429:exon18:c.2002+8G>A;NM_001566:exon20:c.2050+8G>A;NM_004027:exon20:c.2050+8G>A	.	.	ENST00000409540.7,ENST00000074304.9,ENSG00000040933.15,ENST00000409851.7,ENST00000523221.1,ENST00000409016.8,ENST00000409463.5	.	2q11.2	.	.	.	.	.	rs201695585	.	.	0.00166113	0.005	0.000998403	8.3e-05	0.00030724	214816	0.00387061	14468	0.00427517	0.00176056	0,0	-0.0024	.	.	.	.	.	.	.	.	.	-1.779	-3.157	.	.	.	VDB=0.630994;SGB=-0.693147;RPB=0.638726;MQB=3.65365e-12;MQSB=0.354139;BQB=0.575729;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=166;DP4=50,13,39,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:104:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:115:255,0,255:63,52	G	A	0	1	Inositol polyphosphate-4-phosphatase, type I, 107kD, 600916	.	.	.	10702694|7608176|11683991|20463662|11485317	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_INOSITOL_PHOSPHATE_METABOLIC_PROCESS;GO_POLYOL_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_DEPHOSPHORYLATION	.	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_INOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_INOSITOL_TRISPHOSPHATE_PHOSPHATASE_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000040933-INPP4A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 19.0	nucleus; nuclear membrane	.	.
L	2	100011227	.	A	C	222	PASS	EIF5B	.	exonic	NM_015904	.	synonymous SNV	EIF5B:NM_015904:exon21:c.A3135C:p.A1045A	ENSG00000158417.10,ENST00000617677.1,ENST00000289371.10	.	2q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0373	.	.	.	.	.	.	.	.	.	-0.444	-1.237	.	.	.	VDB=0.560878;SGB=-0.69311;RPB=0.957237;MQB=7.17411e-09;MQSB=0.19335;BQB=0.903498;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=81;DP4=18,13,11,20;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:62:255,0,255:31,31	A	C	0	1	.	.	.	.	.	GO_TRANSLATIONAL_INITIATION;GO_PEPTIDE_METABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSLATIONAL_INITIATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	.	GO_GTPASE_ACTIVITY;GO_TRANSLATION_INITIATION_FACTOR_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSLATION_FACTOR_ACTIVITY_RNA_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_TRANSLATION;REACTOME_METABOLISM_OF_PROTEINS	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000158417-EIF5B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 38.0	cytoplasm; plasma membrane	.	BP7, PM2
L	2	100194797	rs142157056	G	A	222	PASS	AFF3	.	exonic	NM_001025108,NM_002285	.	synonymous SNV	AFF3:NM_001025108:exon17:c.C2985T:p.F995F,AFF3:NM_002285:exon17:c.C2910T:p.F970F	ENST00000445815.1,ENST00000409579.5,ENST00000409236.6,ENST00000317233.8,ENSG00000144218.18	.	2q11.2	.	.	.	.	.	rs142157056	.	.	0.0166113	0.0109	0.00219649	7.7e-05	0.00088883	263268	0.01200274	17496	0.01243684	0.01509769	.	-0.3322	.	.	.	.	.	.	.	.	.	1.366	-0.160	1.765806,14.79	3.47	.	VDB=0.834982;SGB=-0.693145;RPB=0.962105;MQB=7.7219e-13;MQSB=0.563031;BQB=0.997967;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=115;DP4=31,12,34,6;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:81:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:83:255,0,255:43,40	G	A	0	1	.	.	.	.	.	GO_HINDLIMB_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT;GO_APPENDAGE_DEVELOPMENT;GO_EMBRYONIC_HINDLIMB_MORPHOGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_RESPONSE_TO_CYTOKINE;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR	.	GO_DOUBLE_STRANDED_DNA_BINDING	.	.	.	.	Normal cells showed moderate to strong nuclear staining which in some tissues was combined with cytoplasmic positivity. Purkinje cells were negative.	http://www.proteinatlas.org/ENSG00000144218-AFF3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	prostate: 13.3	nucleus but not nucleoli; cytoplasm	.	.
M	2	101638934	rs529256836	G	A	222	PASS	TBC1D8	.	exonic	NM_001102426,NM_001330348	.	missense SNV	TBC1D8:NM_001102426:exon16:c.C2525T:p.S842L,TBC1D8:NM_001330348:exon16:c.C2570T:p.S857L	ENST00000376840.8,ENST00000441435.1,ENSG00000071082.10,ENST00000409318.1,ENSG00000204634.12	.	2q11.2	.	.	.	.	.	rs529256836	.	.	0.00332226	0.004	0.000798722	.	0.00033979	267810	0.00496562	18326	0.00369219	0.00088028	.	0.1369	EF-hand domain pair	0.347,T	0.0,B	0.0,B	1,N	0.820101,N	-0.6,N	0.99,T	4.8769	0.209	0.603	.	2.59	0.00637892210567	VDB=0.0319619;SGB=-0.693147;RPB=0.851324;MQB=4.06054e-16;MQSB=0.898109;BQB=0.97591;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=133;DP4=28,24,30,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:52:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:101:255,0,255:52,49	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_VESICLE_FUSION;GO_CIRCULATORY_SYSTEM_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SYSTEM_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS	.	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	.	.	.	Moderate cytoplasmic and occasional membranous positivity was observed in most normal tissues. Epithelial cells of the gall bladder and decidual cells in placenta showed strong staining. Lymphoid tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000204634-TBC1D8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 20.1	nucleus	.	BP4, PM1, PM2
H-	2	102644771	rs148258277	C	T	222	PASS	IL1R2	Interleukin-1 receptor, type II	exonic	NM_004633	.	missense SNV	IL1R2:NM_004633:exon9:c.C1114T:p.R372W	ENST00000332549.7,ENST00000485335.1,ENST00000393414.6,ENST00000474085.5,ENSG00000115590.13	.	2q11.2	.	.	.	.	.	rs148258277	.	.	0.0149502	0.0149	0.00299521	.	0.00100206	275432	0.01373422	18858	0.00602410	0.00616197	.	.	.	0.124,T	0.003,B	0.014,B	1,N	0.404895,N	2.175,M	1.42,T	3.4816	0.095	-0.293	2.493193,19.42	.	.	VDB=0.34895;SGB=-0.693021;RPB=0.280435;MQB=7.62139e-09;MQSB=0.946192;BQB=0.98056;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=67;DP4=22,2,24,3;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:31:.:.	0/1:51:255,0,255:24,27	C	T	0	1	Interleukin-1 receptor, type II, 147811	.	.	.	8332913|10191101|14976157|1833184	GO_IMMUNE_SYSTEM_PROCESS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_IMMUNE_RESPONSE;GO_RESPONSE_TO_CYTOKINE	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_CYTOKINE_RECEPTOR_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE	PID_IL1_PATHWAY	.	REACTOME_SIGNALING_BY_ILS;REACTOME_IL1_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Mainly cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000115590-IL1R2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	rectum: 35.2	nucleus but not nucleoli; cytoplasm	.	.
L-	2	103149147	rs79918239	G	A	169	PASS	SLC9A4	Solute carrier family 9 (sodium/hydrogen exchanger), member 4	exonic	NM_001011552	.	synonymous SNV	SLC9A4:NM_001011552:exon12:c.G2397A:p.X799X	ENSG00000180251.4,ENST00000295269.4	.	2q12.1	.	.	.	.	.	rs79918239	.	.	0.013289	0.0089	0.00179712	.	0.00031383	274032	0.00457739	18788	0.00233191	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.881	.	.	.	VDB=0.751762;SGB=-0.691153;RPB=0.993481;MQB=2.85288e-07;MQSB=0.999919;BQB=0.981995;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=112;DP4=20,31,16,23;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:39:.:.	0/0:35:.:.	0/0:67:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:42:194,0,255:24,18	0/1:48:202,0,255:27,21	G	A	0	2	Solute carrier family 9 (sodium/hydrogen exchanger), member 4, 600531	.	.	.	8824815|8199403	GO_ION_TRANSPORT;GO_DIGESTION;GO_EPITHELIUM_DEVELOPMENT;GO_ACID_SECRETION;GO_CHEMICAL_HOMEOSTASIS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_SECRETION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_REGULATION_OF_PH;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_HYDROGEN_TRANSPORT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT;GO_TISSUE_DEVELOPMENT;GO_HYDROGEN_ION_TRANSMEMBRANE_TRANSPORT	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_PROTON_ANTIPORTER_ACTIVITY;GO_CATION_CATION_ANTIPORTER_ACTIVITY;GO_ANTIPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ION_ANTIPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_ANTIPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_CATION_PROTON_ANTIPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	Membranous expression in stomach.	http://www.proteinatlas.org/ENSG00000180251-SLC9A4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 5.6	nucleus but not nucleoli; plasma membrane	.	BP7
L	2	107052956	rs567096600	C	T	222	PASS	RGPD3	RANBP2-like and GRIP domain-containing protein 3	exonic	NM_001144013	.	synonymous SNV	RGPD3:NM_001144013:exon11:c.G1548A:p.L516L	ENST00000409886.3,ENST00000304514.11,ENSG00000153165.18	.	2q12.2	.	.	Score=842;Name=V$ELK1_01	Score=0.991555;Name=chr2:108442329	.	rs567096600	.	.	0.0166113	0.0268	0.0071885	.	0.00350588	88708	0.01798873	9228	0.01089070	0.02464789	.	0.0810	.	.	.	.	.	.	.	.	.	0.404	0.132	.	.	.	VDB=0.401644;SGB=-0.693147;RPB=0.914514;MQB=0.211721;MQSB=9.7415e-06;BQB=0.984348;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=294;DP4=92,26,72,31;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:98:255,0,255:49,49	0/0:100:.:.	0/1:123:255,0,255:69,54	C	T	0	2	RANBP2-like and GRIP domain-containing protein 3, 612706	.	.	.	15710750	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RETROGRADE_TRANSPORT_VESICLE_RECYCLING_WITHIN_GOLGI;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_GOLGI;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	.	.	.	.	.	Cytoplasmic expression in several tissues. Nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000153165-RGPD3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 3.2	.	.	BP7
L	2	107073489	rs57485627	C	T	61	PASS	RGPD3	RANBP2-like and GRIP domain-containing protein 3	exonic	NM_001144013	.	missense SNV	RGPD3:NM_001144013:exon4:c.G343A:p.E115K	ENST00000409886.3,ENST00000304514.11,ENSG00000153165.18	.	2q12.2	.	.	.	Score=0.991555;Name=chr2:108442329	.	rs57485627	.	.	.	.	.	.	0.02598428	239260	0.00818571	16370	0.00701208	0.06603774	.	0.3889	Tetratricopeptide-like helical domain	1.0,T	0.0,B	0.0,B	0.999999,N	.	-1.145,N	1.16,T	4.7282	0.213	2.304	.	2.57	0.0032818004406	VDB=0.152157;SGB=-0.691153;RPB=0.0789782;MQB=0.0594971;MQSB=0.949339;BQB=0.192912;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=83;DP4=35,13,18,0;MinDP=19;AN=16;AC=1	GT:DP:PL:AD	0/0:19:.:.	0/0:45:.:.	0/0:34:.:.	0/0:49:.:.	0/0:36:.:.	./.:.:.:.	0/0:51:.:.	0/0:64:.:.	0/1:66:95,0,255:48,18	C	T	0	1	RANBP2-like and GRIP domain-containing protein 3, 612706	.	.	.	15710750	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RETROGRADE_TRANSPORT_VESICLE_RECYCLING_WITHIN_GOLGI;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_GOLGI;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	.	.	.	.	.	Cytoplasmic expression in several tissues. Nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000153165-RGPD3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 3.2	.	.	BP4, PM1
L	2	113089927	rs185876627	G	A	222	PASS	ZC3H6	.	exonic	NM_198581	.	synonymous SNV	ZC3H6:NM_198581:exon12:c.G3432A:p.Q1144Q	ENST00000502881.2,ENSG00000188177.13,ENST00000409871.5,ENST00000343936.4	.	2q13	.	.	.	.	.	rs185876627	.	.	0.00830565	0.0079	0.00359425	0.0002	0.00236653	276354	0.02101688	18842	0.01807229	0.01584507	.	.	.	.	.	.	.	.	.	.	.	1.193	3.945	.	4.42	.	VDB=0.503268;SGB=-0.693145;RPB=0.981549;MQB=9.37128e-06;MQSB=0.983491;BQB=0.84568;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=100;DP4=17,9,29,12;MinDP=41;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:41:.:.	0/0:50:.:.	0/0:53:.:.	0/1:67:255,0,255:26,41	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000188177-ZC3H6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 5.2	.	.	.
H	2	113479751	.	CG	C	57	PASS	NT5DC4	.	splicing	NM_001350494	NM_001350494:exon4:c.204-8G>-	.	.	ENSG00000144130.11,ENST00000484666.1,ENST00000327581.4	.	2q13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00832958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.997607;SGB=-0.616816;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=852;DP4=15,3,34,1;IDV=8;IMF=0.0503145;MinDP=63;AN=12;AC=5	GT:PL:DP:AD	./.:.:.:.	./.:.:.:.	0/1:84,0,99:11:5,6	0/0:.:63:.	./.:.:.:.	0/1:61,0,17:5:1,4	0/1:67,0,79:11:4,7	0/1:70,0,91:14:5,9	0/1:90,0,47:12:3,9	CG	C	0	5	.	.	.	.	.	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEOTIDASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000144130-NT5DC4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 0.2	.	.	.
H	2	113514798	rs776277810	A	C	191	PASS	CKAP2L	Cytoskeleton-associated protein 2-like	splicing	NM_152515	NM_152515:exon4:c.157-7T>G	.	.	ENST00000435431.5,ENST00000497357.1,ENST00000461876.5,ENST00000302450.10,ENST00000481732.5,ENSG00000169607.12	.	2q13	.	.	.	.	.	rs776277810	.	.	.	.	.	.	0.00003321	240892	0.00047360	16892	.	0.00088028	0.0006,0.12	-0.2123	.	.	.	.	.	.	.	.	.	2.200	1.398	.	5.03	.	VDB=0.0010292;SGB=-0.691153;RPB=0.389062;MQB=4.3279e-06;MQSB=0.720564;BQB=0.789777;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=45;DP4=5,15,2,16;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:31:.:.	0/1:38:224,0,255:20,18	A	C	0	1	Filippi syndrome, 272440 (3), Autosomal recessive	.	.	.	18553552|8867657|25439729|15365457|24260314	.	GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	General nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000169607-CKAP2L/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 4.6	nucleus but not nucleoli; plasma membrane; vesicles	.	PM2
H-	2	116101497	.	A	C	41.4365	PASS	DPP10	Dipeptidyl peptidase X	splicing	NM_001004360,NM_001178034,NM_001178036,NM_001178037,NM_001321905,NM_001321906,NM_001321907,NM_001321908,NM_001321910,NM_001321911,NM_001321912,NM_001321913,NM_001321914,NM_020868	NM_001004360:exon3:c.250+9A>C;NM_001178034:exon3:c.283+9A>C;NM_001178036:exon4:c.121+9A>C;NM_001178037:exon3:c.259+9A>C;NM_001321905:exon4:c.322+9A>C;NM_001321906:exon4:c.250+9A>C;NM_001321907:exon3:c.271+9A>C;NM_001321908:exon3:c.181+9A>C;NM_001321910:exon4:c.121+9A>C;NM_001321911:exon3:c.121+9A>C;NM_001321912:exon4:c.121+9A>C;NM_001321913:exon1:UTR5;NM_001321914:exon3:UTR5;NM_020868:exon3:c.271+9A>C	.	.	ENST00000419287.1,ENST00000409163.5,ENST00000393147.6,ENST00000393146.6,ENST00000461250.5,ENST00000486885.5,ENST00000429914.5,ENST00000410059.5,ENST00000436732.5,ENSG00000175497.16,ENST00000310323.12	.	2q14.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	4.3005	.	.	.	.	.	.	.	.	.	-1.766	-0.618	.	.	.	VDB=0.101701;SGB=-0.676189;RPB=0.571965;MQB=0.00070962;MQSB=0.0346967;BQB=0.000442672;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=62;DP4=13,20,11,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:49:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:44:76,0,255:33,11	A	C	0	1	Dipeptidyl peptidase X, 608209	.	.	.	14566338|10819331|12662155	GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_REGULATION_OF_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_PROTEOLYSIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_AMINOPEPTIDASE_ACTIVITY;GO_CHANNEL_REGULATOR_ACTIVITY;GO_DIPEPTIDYL_PEPTIDASE_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_EXOPEPTIDASE_ACTIVITY;GO_POTASSIUM_CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000175497-DPP10/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	pancreas: 4.1	nucleus; cytoplasm; vesicles	.	PM2
H	2	120194649	.	A	AGAGTGT	225	PASS	TMEM37	.	exonic	NM_183240	.	nonframeshift insertion	TMEM37:NM_183240:exon2:c.206_207insGAGTGT:p.Q69delinsQSV	ENST00000465296.1,ENST00000409826.1,ENSG00000171227.6,ENST00000306406.4	.	2q14.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03190661	0.00176367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00091299;SGB=-0.693147;MQSB=0.995193;MQ0F=0;MQ=49;DP=177;DP4=0,0,76,66;IDV=2;IMF=0.0112994;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	1/1:142:255,255,0:0,142	A	AGAGTGT	1	0	.	.	.	.	.	GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	.	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Small intestine, renal tubules and epididymis displayed strong membranous staining. Moderate cytoplasmic positivity was observed in large intestine. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000171227-TMEM37/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	kidney: 64.1	nucleoli; nucleus; cytoplasm	.	PM4
H	2	120231070	rs3731600	C	G	222	PASS	SCTR	Secretin receptor	exonic	NM_002980	.	missense SNV	SCTR:NM_002980:exon4:c.G364C:p.A122P	ENST00000627145.1,ENST00000485440.1,ENST00000630739.2,ENSG00000080293.9,ENST00000019103.7	.	2q14.2	.	.	Score=804;Name=V$SRF_C	.	.	rs3731600	.	.	0	0.0119	0.00239617	.	0.00058088	277166	0.00847997	18868	0.00233191	0.00264085	.	-0.1173	GPCR, family 2, extracellular hormone receptor domain	0.004,D	0.81,P	0.921,P	0.999963,D	0.000028,D	3.88,H	0.38,T	16.8007	2.539	4.652	5.598140,26.5	4.9	.	VDB=0.304648;SGB=-0.693141;RPB=0.916338;MQB=5.13539e-09;MQSB=0.93911;BQB=0.992544;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=105;DP4=30,10,28,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/1:77:255,0,255:40,37	C	G	0	1	Secretin receptor, 182098	.	.	.	7612008|17283064|19805236|1646711|8575789	GO_EXCRETION;GO_DIGESTION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS	GO_MICROTUBULE_CYTOSKELETON;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_CYTOPLASMIC_MICROTUBULE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	Membranous expression in several different tissue types.	http://www.proteinatlas.org/ENSG00000080293-SCTR/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	kidney: 2.1	.	.	PM1, PP3
H	2	121744158	rs144782119	G	A	222	PASS	GLI2	GLI-Kruppel family member GLI2 (oncogene GLI2)	exonic	NM_005270	.	missense SNV	GLI2:NM_005270:exon12:c.G2261A:p.R754Q	ENST00000438299.5,ENST00000452692.5,ENST00000341310.10,ENST00000361492.8,ENST00000437950.5,ENST00000452319.5,ENSG00000074047.21,ENST00000445186.5	.	2q14.2	.	.	Score=844;Name=V$MRF2_01	.	.	rs144782119	.	.	.	.	.	0.0003	0.00013804	275274	0.00015900	18868	.	.	.	-0.1174	.	0.045,D	0.905,P	0.999,D	0.999961,D	0.000052,D	2.14,M	1.99,T	18.4412	2.582	2.644	5.959400,27.7	4.98	0.00491719897105	VDB=0.348775;SGB=-0.693145;RPB=0.725845;MQB=0.000183781;MQSB=0.319326;BQB=0.636455;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=97;DP4=20,17,21,20;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:56:.:.	0/0:57:.:.	0/0:87:.:.	0/0:50:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/1:78:255,0,255:37,41	G	A	0	1	Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant	.	Cleft lip(CM055282)	CGG-CAG|Arg754Gln|c.2261G>A|p.R754Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=16327884&amp;dopt=Abstract)	16327884|21204792|6726521|20871598|20685856|10700170|8812445|12533516|17096318|14581620|15994174|2850480	GO_SPINAL_CORD_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_HINDBRAIN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DNA_REPLICATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_MAMMARY_GLAND_MORPHOGENESIS;GO_METENCEPHALON_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_VIRUS;GO_CELL_PART_MORPHOGENESIS;GO_GLAND_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_CARTILAGE_DEVELOPMENT;GO_PROSTATE_GLAND_MORPHOGENESIS;GO_REGULATION_OF_CARTILAGE_DEVELOPMENT;GO_EMBRYONIC_DIGIT_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_CEREBELLAR_CORTEX_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_OSTEOBLAST_DIFFERENTIATION;GO_PITUITARY_GLAND_DEVELOPMENT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_VENTRAL_SPINAL_CORD_INTERNEURON_SPECIFICATION;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_VENTRAL_SPINAL_CORD_DEVELOPMENT;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EMBRYO_DEVELOPMENT;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_TAXIS;GO_ORGAN_FORMATION;GO_PROXIMAL_DISTAL_PATTERN_FORMATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_ANATOMICAL_STRUCTURE_REGRESSION;GO_REGULATION_OF_HEMOPOIESIS;GO_SPINAL_CORD_MOTOR_NEURON_CELL_FATE_SPECIFICATION;GO_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_MORPHOGENESIS_OF_AN_EPITHELIAL_FOLD;GO_EAR_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CEREBELLAR_CORTEX_DEVELOPMENT;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_DIGESTIVE_TRACT_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CELL_PROLIFERATION;GO_CHONDROCYTE_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEURON_FATE_SPECIFICATION;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_DIGESTIVE_TRACT_MORPHOGENESIS;GO_APPENDAGE_DEVELOPMENT;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_SPINAL_CORD_PATTERNING;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_CARTILAGE_DEVELOPMENT;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_VENTRAL_SPINAL_CORD_INTERNEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_MAMMARY_GLAND_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CENTRAL_NERVOUS_SYSTEM_PROJECTION_NEURON_AXONOGENESIS;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_DORSAL_VENTRAL_NEURAL_TUBE_PATTERNING;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_GROWTH;GO_EMBRYONIC_MORPHOGENESIS;GO_EAR_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_EPIDERMIS_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_OSSIFICATION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_INVOLVED_IN_CELL_CELL_SIGNALING;GO_DIENCEPHALON_DEVELOPMENT;GO_CELL_FATE_COMMITMENT;GO_COCHLEA_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_HINDBRAIN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_SMOOTHENED_SIGNALING_PATHWAY;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_COCHLEA_MORPHOGENESIS;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_OSTEOBLAST_DEVELOPMENT;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_TUBE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_NEURON_DIFFERENTIATION;GO_NEURON_FATE_COMMITMENT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DNA_REPLICATION;GO_CELL_FATE_SPECIFICATION;GO_NEURON_PROJECTION_GUIDANCE;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DEVELOPMENT;GO_GLAND_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PROSTATE_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_NOTOCHORD_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_MAMMARY_GLAND_DUCT_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RESPONSE_TO_VIRUS;GO_NEURAL_TUBE_PATTERNING;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION;GO_DEVELOPMENTAL_GROWTH;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_AXONOGENESIS;GO_INNER_EAR_MORPHOGENESIS;GO_ODONTOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_CILIARY_TIP;GO_CILIARY_PART;GO_NUCLEOPLASM_PART;GO_CILIARY_BASE;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_CILIARY_PLASM;GO_CILIUM	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_ZINC_ION_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_HEDGEHOG_2PATHWAY;PID_HEDGEHOG_GLI_PATHWAY	BIOCARTA_SHH_PATHWAY	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000074047-GLI2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 5.3	.	.	.
M	2	128088018	rs55767983	T	C	212	PASS	MAP3K2	Mitogen-activated protein kinase kinase kinase 2	exonic	NM_006609	.	missense SNV	MAP3K2:NM_006609:exon5:c.A328G:p.I110V	ENSG00000169967.16,ENST00000344908.9,ENST00000409947.5	.	2q14.3	.	.	.	.	.	rs55767983	.	.	0.0149502	0.0099	0.00199681	.	0.00066642	274602	0.00962464	18702	0.01049359	0.00704225	.	-0.6234	Phox/Bem1p	1.0,T	0.001,B	0.0,B	0.523523,N	0.000019,N	-0.69,N	1.98,T	8.4089	0.550	1.330	.	3.72	.	VDB=0.24143;SGB=-0.683931;RPB=0.67539;MQB=8.29382e-06;MQSB=0.667223;BQB=0.815908;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=48;DP4=19,2,10,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:34:245,0,255:21,13	T	C	0	1	Mitogen-activated protein kinase kinase kinase 2, 609487	.	.	.	8621389|11032806|12138187|14734742|24847881|16001074|15075238	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ACTIVATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_JNK_CASCADE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_JNK_CASCADE;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_PHOSPHORYLATION;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_CELLULAR_RESPONSE_TO_MECHANICAL_STIMULUS;GO_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ACTIVATION_OF_MAPKK_ACTIVITY	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_MAP_KINASE_KINASE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_GAP_JUNCTION;KEGG_GNRH_SIGNALING_PATHWAY	PID_ERBB1_DOWNSTREAM_PATHWAY;PID_MAPK_TRK_PATHWAY	BIOCARTA_MAPK_PATHWAY	.	The gastric mucosa and renal tubules exhibited strong staining. Weak to moderate cytoplasmic positivity was observed in a majority of normal tissues. Lymphoid tissue, alveolar cells and glial cells were negative.	http://www.proteinatlas.org/ENSG00000169967-MAP3K2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 17.7	nucleus but not nucleoli; cytoplasm	.	BP4, PM1
L	2	128177584	rs144300387	T	C	222	PASS	PROC	Protein C (inactivator of coagulation factors Va and VIIIa)	exonic	NM_000312	.	synonymous SNV	PROC:NM_000312:exon2:c.T66C:p.P22P	ENST00000427769.5,ENST00000442644.5,ENST00000431364.1,ENST00000409048.1,ENST00000474030.5,ENSG00000115718.17,ENST00000234071.7,ENST00000429925.5,ENST00000419985.5	.	2q14.3	.	.	.	.	.	rs144300387	other;Thrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant;RCV000332512.1;MedGen:OMIM;C2674321:176860	.	0.0348837	0.0407	0.0081869	7.7e-05	0.00200681	277056	0.02566006	18862	0.01651768	0.02031802	.	0.3202	.	.	.	.	.	.	.	.	.	0.632	1.276	.	2.79	.	VDB=0.35322;SGB=-0.636426;RPB=0.999773;MQB=0.0243507;MQSB=0.910296;BQB=0.904837;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=98;DP4=23,28,7,21;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/1:34:127,0,255:27,7	0/0:32:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:45:255,0,255:24,21	T	C	0	2	Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive	.	.	.	8093743|2991859|7881411|11236773|1347706|3010107|1347608|7479820|1270437|11496851|2991887|6589623|8128429|1511988|1678832|1348046|1511989|2602169|9683579|17982464|3001144|3356168|8639775|15902301|11380450|8400292|2829367|12324556|3185623|10942114|8218861|2912888|3511471|8594568|7482420|1868249|8446940|12052963|3463531|2437584|11140943|12324563|1301954|8807339|9553065|8945631|1465430|12324562|1593215|1469096	GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_WOUND_HEALING;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_COAGULATION;GO_PROTEIN_MATURATION;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_WOUND_HEALING;GO_CELL_MOTILITY;GO_NEGATIVE_REGULATION_OF_COAGULATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_DEVELOPMENT;GO_PEPTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_NEGATIVE_REGULATION_OF_WOUND_HEALING;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_PROTEIN_CARBOXYLATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_LOCOMOTION;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_GOLGI_VESICLE_TRANSPORT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_SIGNAL_PEPTIDE_PROCESSING;GO_HEMOSTASIS;GO_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN;GO_ENDOPLASMIC_RETICULUM	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_INTEGRIN2_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GAMMA_CARBOXYLATION_TRANSPORT_AND_AMINO_TERMINAL_CLEAVAGE_OF_PROTEINS;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_COMMON_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_HEMOSTASIS	Positivity in plasma and cytoplasmic expression in fractions of cell types.	http://www.proteinatlas.org/ENSG00000115718-PROC/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 11.6	.	.	.
L	2	130897638	rs182090597	C	T	221	PASS	CCDC74B	.	exonic	NM_001258307,NM_207310	.	missense SNV	CCDC74B:NM_001258307:exon6:c.G710A:p.S237N,CCDC74B:NM_207310:exon6:c.G908A:p.S303N	ENSG00000152076.18,ENST00000310463.10,ENST00000498526.1,ENST00000496704.1,ENST00000392984.7,ENST00000409943.7	.	2q21.1	.	.	Score=740;Name=V$MYOGNF1_01	Score=0.968148;Name=chr2:132190777	.	rs182090597	.	.	0.0249169	0.0298	0.0061901	.	0.00215322	275866	0.03070875	18822	0.02645914	0.02123894	.	1.5000	Coiled coil protein 74, C-terminal	0.023,D	.	.	0.999958,N	.	.	.	6.6279	-0.348	-1.192	.	.	.	VDB=0.498147;SGB=-0.693147;RPB=3.9485e-07;MQB=0.021021;MQSB=0.00519136;BQB=0.352075;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=330;DP4=65,11,89,95;MinDP=52;AN=18;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:56:.:.	0/1:132:255,0,137:38,94	0/0:131:.:.	0/0:100:.:.	0/0:52:.:.	0/0:100:.:.	0/0:100:.:.	0/1:128:255,0,198:38,90	C	T	0	2	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000152076-CCDC74B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	endometrium: 5.8	vesicles	.	BP4, PM1
L	2	144525594	rs139437131	G	A	222	PASS	ARHGAP15	Rho GTPase-activating protein 15	exonic	NM_018460	.	synonymous SNV	ARHGAP15:NM_018460:exon14:c.G1281A:p.T427T	ENST00000295095.10,ENST00000549060.1,ENST00000548756.1,ENSG00000257226.1,ENSG00000075884.13	.	2q22.3	.	.	.	.	.	rs139437131	.	.	.	.	.	0.0002	0.00069837	276356	0.00031851	18838	0.00038865	.	.	.	.	.	.	.	.	.	.	.	.	-1.737	-1.576	1.351221,12.53	.	.	VDB=0.126042;SGB=-0.692562;RPB=0.991334;MQB=2.14713e-07;MQSB=0.23621;BQB=0.869997;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=62;DP4=19,5,12,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:46:255,0,255:24,22	G	A	0	1	Rho GTPase-activating protein 15, 610578	.	.	.	12650940	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_SHAPE;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS	.	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES	Moderate to strong granular cytoplasmic and nuclear positivity was observed in most normal tissues.	http://www.proteinatlas.org/ENSG00000075884-ARHGAP15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 57.6	golgi apparatus; vesicles; nucleus but not nucleoli	.	BP7
H	2	152321457	rs188032134	A	G	222	PASS	RIF1	Ligand-dependent nuclear receptor-interacting factor 1	exonic	NM_001177663,NM_001177664,NM_001177665,NM_018151	.	missense SNV	RIF1:NM_001177665:exon29:c.A5423G:p.N1808S,RIF1:NM_001177663:exon30:c.A5423G:p.N1808S,RIF1:NM_001177664:exon30:c.A5423G:p.N1808S,RIF1:NM_018151:exon30:c.A5423G:p.N1808S	ENST00000428287.6,ENST00000430328.6,ENST00000243326.9,ENST00000453091.6,ENST00000444746.6,ENSG00000080345.17,ENST00000454583.6	.	2q23.3	.	.	.	.	.	rs188032134	.	.	0.00332226	0.004	0.00139776	.	0.00048594	236656	0.00570655	16998	0.00427517	0.00440141	.	-0.0060	.	0.033,D	0.225,B	0.587,P	0.999996,N	0.727414,N	1.15,L	2.93,T	4.3129	0.695	0.318	.	2.27	0.00390060323903	VDB=0.111644;SGB=-0.693021;RPB=0.978685;MQB=2.96639e-08;MQSB=0.876479;BQB=0.955439;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=63;DP4=15,9,14,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:51:255,0,255:24,27	A	G	0	1	Ligand-dependent nuclear receptor-interacting factor 1, 615354	.	.	.	17455211	GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_DNA_REPAIR;GO_DNA_REPAIR;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_POSITIVE_REGULATION_OF_DNA_REPAIR;GO_MAINTENANCE_OF_CELL_NUMBER;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_NON_RECOMBINATIONAL_REPAIR;GO_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_CHROMOSOMAL_REGION;GO_PRONUCLEUS;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CHROMOSOME_TELOMERIC_REGION;GO_SPINDLE	.	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000080345-RIF1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 11.5	nucleus; plasma membrane	.	.
H	2	152350325	rs770656983	C	T	186	PASS	NEB	Nebulin	exonic	NM_001164507,NM_001164508,NM_001271208,NM_004543	.	missense SNV	NEB:NM_004543:exon142:c.G19032A:p.M6344I,NEB:NM_001164507:exon175:c.G24636A:p.M8212I,NEB:NM_001164508:exon175:c.G24636A:p.M8212I,NEB:NM_001271208:exon176:c.G24741A:p.M8247I	ENST00000498015.2,ENSG00000183091.19,ENST00000434685.5,ENSG00000080345.17,ENST00000604864.5,ENST00000413693.5,ENST00000618972.4,ENST00000603639.5,ENST00000172853.14,ENST00000397337.6,ENST00000457745.1,ENST00000409198.5,ENST00000454583.6,ENST00000397345.7,ENST00000421461.6,ENST00000427231.6	.	2q23.3	.	.	Score=765;Name=V$PAX6_01	.	.	rs770656983	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1202	.	0.402,T	0.281,B	0.516,P	1,D	0.000002,N	0.755,N	1.05,T	16.9068	1.493	3.031	.	5.05	0.0156682117244	VDB=0.246704;SGB=-0.662043;RPB=0.399651;MQB=0.000380129;MQSB=0.67032;BQB=0.820031;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=12,2,6,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:23:219,0,255:14,9	C	T	0	1	Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive	.	.	.	15221447|15266303|7739042|19232495|16917880|9284930|16157704|19346529|10051637|9359044|1683831|2838409|21148390|12207937|8626778|3397062	GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_ACTIN_MYOSIN_FILAMENT_SLIDING;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_MUSCLE_CONTRACTION;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIN_MEDIATED_CELL_CONTRACTION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION	GO_I_BAND;GO_ACTIN_CYTOSKELETON;GO_CONTRACTILE_FIBER;GO_CYTOSKELETON	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	Cytoplasmic expression in skeletal muscle.	http://www.proteinatlas.org/ENSG00000183091-NEB/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 31.6	.	.	BP1, PM2
H	2	152830184	rs149715354	G	A	199	PASS	CACNB4	Calcium channel, voltage-dependent, beta 4 subunit	exonic	NM_001005747,NM_001330115	.	missense SNV	CACNB4:NM_001005747:exon1:c.C44T:p.A15V,CACNB4:NM_001330115:exon1:c.C44T:p.A15V	ENST00000637535.1,ENST00000637418.1,ENST00000637309.1,ENST00000637559.1,ENST00000637550.1,ENST00000637491.1,ENST00000638091.1,ENSG00000182389.19,ENSG00000283228.1,ENST00000637284.1,ENST00000637312.1,ENST00000637217.1,ENST00000636380.1,ENST00000636785.1,ENST00000637530.1,ENST00000636617.1,ENST00000637773.1,ENST00000539935.6,ENST00000637216.1,ENST00000635904.1,ENST00000637232.1,ENST00000201943.10,ENST00000637330.1,ENST00000636810.1,ENST00000636947.1,ENST00000638040.1,ENST00000636350.1,ENST00000637132.1,ENST00000636901.1,ENST00000637479.1,ENST00000637514.1,ENST00000635743.1,ENST00000470066.2,ENST00000636507.1,ENST00000534999.6,ENST00000637547.1,ENST00000637913.1,ENST00000637436.1,ENST00000637779.1,ENST00000636442.1,ENST00000636773.1,ENST00000636762.1,ENST00000636664.1,ENST00000635738.1,ENST00000635803.1,ENST00000427385.6,ENST00000636721.1,ENST00000635835.1,ENST00000636129.1,ENST00000397327.7,ENST00000434468.2,ENST00000637622.1,ENST00000638150.1,ENST00000636108.1,ENST00000637765.1,ENST00000635930.1,ENST00000636834.1,ENST00000636831.1,ENST00000360283.11,ENST00000637319.1,ENST00000637224.1,ENST00000638005.1,ENST00000636496.1,ENST00000638083.1,ENST00000637762.1	.	2q23.3	.	.	.	.	.	rs149715354	.	.	.	.	.	.	0.00004342	276348	0.00063796	18810	0.00058298	0.00176056	0.0791,0.128	.	.	0.343,T	0.003,B	0.001,B	1,D	.	.	-0.65,T	18.7857	2.740	6.537	2.025969,16.38	5.78	0.0177980614958	VDB=0.0916418;SGB=-0.69168;RPB=0.711021;MQB=7.48518e-05;MQSB=0.583271;BQB=0.997634;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=38;DP4=8,2,18,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:31:.:.	0/1:29:232,0,204:10,19	G	A	0	1	{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; Episodic ataxia, type 5, 613855 (3), Autosomal dominant	.	.	.	15637280|9530629|9039265|15170217|10762541|9628818|9254840|9254841	GO_NEUROMUSCULAR_JUNCTION_DEVELOPMENT;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_MEMBRANE_DEPOLARIZATION;GO_SENSORY_PERCEPTION;GO_ACID_SECRETION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CHEMICAL_HOMEOSTASIS;GO_SYNAPSE_ORGANIZATION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ADULT_BEHAVIOR;GO_METAL_ION_TRANSPORT;GO_TRANSMISSION_OF_NERVE_IMPULSE;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_CELL_CELL_SIGNALING;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_THYMUS_DEVELOPMENT;GO_HOMEOSTATIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_ADULT_LOCOMOTORY_BEHAVIOR;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_SECRETION;GO_ANION_TRANSPORT;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NITROGEN_COMPOUND_TRANSPORT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEURON_NEURON_SYNAPTIC_TRANSMISSION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_RADIATION;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_CALCIUM_ION_TRANSPORT;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_DETECTION_OF_LIGHT_STIMULUS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ACTION_POTENTIAL;GO_DETECTION_OF_VISIBLE_LIGHT;GO_REGULATION_OF_SYSTEM_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_DETECTION_OF_STIMULUS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_DETECTION_OF_LIGHT_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;GO_MUSCLE_FIBER_DEVELOPMENT;GO_ION_HOMEOSTASIS;GO_CAMP_METABOLIC_PROCESS;GO_LOCOMOTORY_BEHAVIOR;GO_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLAND_DEVELOPMENT;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_ION_TRANSPORT;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_MUSCLE_CELL_DIFFERENTIATION;GO_MUSCLE_CELL_DEVELOPMENT;GO_CARDIAC_CONDUCTION;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_BEHAVIOR;GO_TISSUE_DEVELOPMENT;GO_WALKING_BEHAVIOR;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_SPLEEN_DEVELOPMENT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_SYNAPSE;GO_CATION_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_SIDE_OF_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CALCIUM_CHANNEL_COMPLEX;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_KINASE_BINDING;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_HIGH_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	Most normal tissues displayed moderate cytoplasmic staining often accompanied with nuclear positivity. Strong cytoplasmic positivity was observed in the adrenal cortex, Leydig cells in testis and Purkinje cells in cerebellum whereas neuronal cells displayed strong nuclear positivity and cells of granular layer of cerebellum nuclear membranous.	http://www.proteinatlas.org/ENSG00000182389-CACNB4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 7.5	.	.	PM2
H	2	159166135	rs145531516	T	A	181	PASS	CCDC148	.	exonic	NM_001301684,NM_138803	.	missense SNV	CCDC148:NM_001301684:exon7:c.A482T:p.Y161F,CCDC148:NM_138803:exon9:c.A920T:p.Y307F	ENST00000417066.5,ENST00000451554.1,ENST00000454257.5,ENST00000448656.5,ENST00000409187.5,ENST00000283233.9,ENSG00000153237.17	.	2q24.1	.	.	Score=862;Name=V$FOXJ2_02	.	.	rs145531516	.	.	0.0282392	0.0317	0.00758786	0.0032	0.00530733	276410	0.03220843	18846	0.02293935	0.02380952	.	-0.0880	.	0.401,T	0.544,P	0.933,P	0.995339,N	.	2.56,M	1.47,T	5.5818	1.078	1.154	4.118929,23.8	4.8	.	VDB=0.0456508;SGB=-0.590765;RPB=0.760054;MQB=0.0194886;MQSB=0.5;BQB=0.95494;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=85;DP4=12,21,5,31;MinDP=5;AN=18;AC=4	GT:PL:DP:AD	0/1:99,0,175:12:7,5	0/1:194,0,255:23:12,11	0/0:.:11:.	0/0:.:11:.	0/0:.:5:.	0/0:.:10:.	0/1:214,0,123:14:5,9	0/0:.:10:.	0/1:150,0,214:20:9,11	T	A	0	4	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues displayed weak to moderate cytoplasmic and occasional membranous positivity. Strong staining was observed in basal layer of epidermis. The liver, kidney, breast, prostate, glial cells and lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000153237-CCDC148/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	kidney: 1.4	nucleus; nucleoli	.	BS1
H	2	160599626	rs201822232	T	C	133	PASS	MARCH7	Membrane-associated RING-CH finger protein 7	exonic	NM_001282805,NM_001282806,NM_001282807,NM_022826	.	missense SNV	MARCH7:NM_001282807:exon2:c.T94C:p.S32P,MARCH7:NM_001282806:exon3:c.T208C:p.S70P,MARCH7:NM_022826:exon3:c.T208C:p.S70P,MARCH7:NM_001282805:exon5:c.T208C:p.S70P	ENST00000473749.1,ENSG00000136536.14,ENST00000421037.1,ENST00000409175.5,ENST00000409591.5,ENST00000539065.5,ENST00000259050.8	.	2q24.2	.	.	.	.	.	rs201822232	.	.	0.00166113	0.002	0.000399361	.	0.00030301	277220	0.00439945	18866	0.00155461	0.00088028	.	0.2310	.	0.0,D	0.996,D	0.999,D	0.996496,D	0.000106,D	2.125,M	0.24,T	14.2554	2.107	4.219	6.377553,29.5	5.54	0.0384715518918	VDB=0.468633;SGB=-0.662043;RPB=0.884706;MQB=0.00012341;MQSB=0.863342;BQB=0.931358;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=34;DP4=13,7,7,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:29:166,0,255:20,9	T	C	0	1	Membrane-associated RING-CH finger protein 7, 613334	.	.	.	14722266|18305173|19901269	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_TOLERANCE_INDUCTION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_PROTEIN_UBIQUITINATION;GO_NEGATIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression, most abundant in the gastrointestinal tract and neuronal cells.	http://www.proteinatlas.org/ENSG00000136536-MARCH7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 53.9	plasma membrane; cytoplasm; cytoskeleton (actin filaments)	.	PM2, PP3
L*	2	161141307	rs181086244	T	C	222	PASS	RBMS1	RNA-binding motif protein, single strand-interacting, 1	exonic	NM_002897,NM_016836	.	synonymous SNV	RBMS1:NM_002897:exon9:c.A870G:p.A290A,RBMS1:NM_016836:exon9:c.A879G:p.A293A	ENST00000490637.5,ENST00000392753.7,ENSG00000153250.19,ENST00000409289.6,ENST00000348849.7,ENST00000491781.5,ENST00000474820.5,ENST00000409075.5,ENST00000409972.5	.	2q24.2	.	.	.	.	.	rs181086244	.	.	0.00166113	0.002	0.000399361	.	0.00008938	246130	0.00098574	17246	0.00019433	.	.	2.0374	.	.	.	.	.	.	.	.	.	0.161	0.211	.	.	.	VDB=0.794986;SGB=-0.692562;RPB=0.860422;MQB=9.31395e-08;MQSB=0.759185;BQB=0.999786;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=14,12,10,12;MinDP=24;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:24:.:.	0/0:29:.:.	0/0:41:.:.	0/1:48:255,0,255:26,22	T	C	0	1	RNA-binding motif protein, single strand-interacting, 1, 602310	.	.	.	8871567|8041632|8134115|7838710	GO_RNA_PROCESSING;GO_DNA_REPLICATION;GO_DNA_METABOLIC_PROCESS	.	GO_DOUBLE_STRANDED_DNA_BINDING;GO_SINGLE_STRANDED_DNA_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Trophoblastic cells, exocrine glandular cells in pancreas, thyroid gland and glandular cells in small intestine displayed strong immunoreactivity. Bile ducts and soft tissues were in general negative.	http://www.proteinatlas.org/ENSG00000153250-RBMS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 42.9	cytoplasm	.	BP7, PM2
H	2	165561600	rs138185294	C	T	222	PASS	COBLL1	COBL-like protein 1	exonic	NM_001278458,NM_001278460,NM_001278461,NM_014900	.	missense SNV	COBLL1:NM_001278461:exon7:c.G1012A:p.G338R,COBLL1:NM_014900:exon7:c.G1012A:p.G338R,COBLL1:NM_001278460:exon8:c.G1150A:p.G384R,COBLL1:NM_001278458:exon10:c.G1210A:p.G404R	ENST00000456171.5,ENST00000392717.6,ENST00000629362.2,ENST00000342193.8,ENST00000409184.7,ENST00000493868.5,ENST00000375458.6,ENST00000434366.5,ENSG00000082438.15,ENST00000460238.1,ENST00000491126.6	.	2q24.3	.	.	.	.	.	rs138185294	.	.	.	.	.	7.7e-05	.	.	.	.	.	.	.	0.2594	.	0.021,D	0.938,D	0.994,D	1,N	0.159242,N	1.7,L	.	7.2502	0.316	1.639	4.527840,24.3	2.52	0.0157855676164	VDB=0.489927;SGB=-0.692914;RPB=0.773175;MQB=3.85328e-05;MQSB=0.98589;BQB=0.388014;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=53;DP4=7,7,12,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:39:255,0,255:14,25	C	T	0	1	COBL-like protein 1, 610318	.	.	.	14512015|10231032	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_ACTIN_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_PROTEIN_POLYMERIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ACTIN_FILAMENT_POLYMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	.	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_MONOMER_BINDING	.	.	.	.	Cellmembranous expression in many tissues.	http://www.proteinatlas.org/ENSG00000082438-COBLL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 45.4	nucleus; cytoplasm; plasma membrane; cell junctions	.	PM2
H	2	168103129	rs181539061	G	A	222	PASS	XIRP2	Cardiomyopathy-associated protein 3	exonic	NM_001199144,NM_152381	.	missense SNV	XIRP2:NM_001199144:exon7:c.G4561A:p.V1521I,XIRP2:NM_152381:exon9:c.G5227A:p.V1743I	ENST00000409195.5,ENST00000628543.2,ENST00000409728.5,ENST00000409605.1,ENST00000409043.5,ENSG00000163092.19,ENST00000409273.5	.	2q24.3	.	.	.	.	.	rs181539061	.	.	0.0182724	0.0179	0.00359425	.	0.00082790	275396	0.01000958	18782	0.00835925	0.00792254	.	.	.	0.021,D	0.994,D	0.999,D	1,D	0.000000,D	3.02,M	3.19,T	18.3299	2.633	9.468	5.437124,26.1	5.57	.	VDB=0.420782;SGB=-0.693079;RPB=0.191493;MQB=1.21915e-06;MQSB=0.833185;BQB=0.974775;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=62;DP4=12,9,21,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:39:.:.	0/1:50:255,0,255:21,29	G	A	0	1	Cardiomyopathy-associated protein 3, 609778	.	.	.	17046827|15454575	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_TISSUE_MORPHOGENESIS;GO_CELL_JUNCTION_ORGANIZATION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_HEART_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_VENTRICULAR_SEPTUM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	GO_I_BAND;GO_CELL_JUNCTION;GO_CONTRACTILE_FIBER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTININ_BINDING;GO_ALPHA_ACTININ_BINDING	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000163092-XIRP2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 10.3	.	.	PP3
L	2	168107124	rs534488626	T	C	222	PASS	XIRP2	Cardiomyopathy-associated protein 3	exonic	NM_001199144,NM_152381	.	synonymous SNV	XIRP2:NM_001199144:exon7:c.T8556C:p.I2852I,XIRP2:NM_152381:exon9:c.T9222C:p.I3074I	ENST00000409195.5,ENST00000628543.2,ENST00000409728.5,ENST00000295237.10,ENST00000409605.1,ENST00000409043.5,ENSG00000163092.19,ENST00000409273.5	.	2q24.3	.	.	.	.	.	rs534488626	.	.	0	0.001	0.000199681	.	0.00007616	275736	0.00106474	18784	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-0.350	-0.044	.	.	.	VDB=0.599667;SGB=-0.693021;RPB=0.042937;MQB=1.58552e-08;MQSB=0.22855;BQB=0.363629;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=72;DP4=18,12,22,5;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:57:255,0,255:30,27	T	C	0	1	Cardiomyopathy-associated protein 3, 609778	.	.	.	17046827|15454575	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_TISSUE_MORPHOGENESIS;GO_CELL_JUNCTION_ORGANIZATION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_HEART_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_VENTRICULAR_SEPTUM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	GO_I_BAND;GO_CELL_JUNCTION;GO_CONTRACTILE_FIBER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTININ_BINDING;GO_ALPHA_ACTININ_BINDING	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000163092-XIRP2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 10.3	.	.	BP7, PM2
H	2	177193087	rs78943740	G	A	210	PASS	MTX2	Metaxin 2	exonic	NM_001006635,NM_001319097,NM_001319098,NM_006554	.	missense SNV	MTX2:NM_001319097:exon6:c.G352A:p.V118I,MTX2:NM_001319098:exon6:c.G352A:p.V118I,MTX2:NM_006554:exon6:c.G352A:p.V118I,MTX2:NM_001006635:exon7:c.G322A:p.V108I	ENST00000420864.5,ENST00000452865.1,ENST00000249442.10,ENST00000443241.5,ENSG00000128654.13	.	2q31.1	.	.	Score=823;Name=V$FOXO3_01	.	.	rs78943740	.	.	0.0265781	0.0298	0.00778754	0.0005	0.00720272	263928	0.03723944	17750	0.04501169	0.05123675	.	1.3743	Glutathione S-transferase, C-terminal-like	0.088,T	0.685,P	0.985,D	1,D	0.000000,D	1.975,M	0.93,T	19.5007	2.673	9.813	3.539300,23.1	5.38	.	VDB=0.482741;SGB=-0.670168;RPB=0.983267;MQB=0.00920968;MQSB=0.403532;BQB=0.829029;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=59;DP4=14,7,16,6;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:15:221,0,133:5,10	0/0:10:.:.	0/1:28:243,0,255:16,12	G	A	0	2	Metaxin 2, 608555	.	.	.	10381257|20648051|17624330	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MITOCHONDRIAL_TRANSPORT;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MITOCHONDRION_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_PROTEIN_TARGETING_TO_MITOCHONDRION	GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_OUTER_MEMBRANE;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	.	.	.	.	REACTOME_MITOCHONDRIAL_PROTEIN_IMPORT;REACTOME_METABOLISM_OF_PROTEINS	Ubiquitous granular cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000128654-MTX2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 54.1	.	.	BS1, PM1, PP3
L	2	179583949	rs563766812	C	T	222	PASS	TTN	Titin	exonic	NM_001256850,NM_001267550,NM_133378	.	synonymous SNV	TTN:NM_133378:exon80:c.G20436A:p.T6812T,TTN:NM_001256850:exon81:c.G23217A:p.T7739T,TTN:NM_001267550:exon83:c.G24168A:p.T8056T	ENST00000589042.5,ENSG00000237298.9,ENST00000359218.10,ENST00000342992.10,ENSG00000155657.26,ENST00000460472.6,ENST00000625480.2,ENST00000342175.11,ENST00000591111.5,ENST00000615779.5,ENST00000585451.5	.	2q31.2	.	.	Score=885;Name=V$NF1_Q6	.	.	rs563766812	Likely benign|Likely benign;Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy,_type_2J;RCV000467324.1|RCV000467324.1;MedGen:OMIM|MedGen:OMIM:Orphanet;C1858763:604145|C1837342:608807:ORPHA140922	.	0.00166113	0.001	0.000199681	.	0.00001449	276056	0.00021247	18826	0.00038865	.	.	-1.1447	.	.	.	.	.	.	.	.	.	-2.484	-7.528	2.874930,21.7	.	.	VDB=0.485258;SGB=-0.693147;RPB=0.465409;MQB=7.81349e-09;MQSB=0.368274;BQB=0.508494;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=138;DP4=41,13,33,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:99:255,0,255:54,45	C	T	0	1	Cardiomyopathy, dilated, 1G, 604145 (3); Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 2J, 608807 (3), Autosomal recessive; Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy, 611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant	.	.	.	11717165|17444505|24105469|11829483|11788824|14572168|12145747|22335739|26315439|16115818|11846417|15138196|2129545|7569978|15802564|12198551|23396983|12482578|10573426|8307566|10053013|9359044|17360664|20634290|10462489|10051295|12891679|12660787|11788825|16407954	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_RESPONSE_TO_MUSCLE_STRETCH;GO_CIRCULATORY_SYSTEM_PROCESS;GO_SECRETION_BY_CELL;GO_CHROMOSOME_CONDENSATION;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_ACTIN_MYOSIN_FILAMENT_SLIDING;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_TISSUE_MORPHOGENESIS;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CARDIAC_MYOFIBRIL_ASSEMBLY;GO_MITOTIC_SISTER_CHROMATID_SEGREGATION;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_SARCOMERE_ORGANIZATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SECRETION;GO_DNA_CONFORMATION_CHANGE;GO_DETECTION_OF_MECHANICAL_STIMULUS;GO_STRIATED_MUSCLE_CONTRACTION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_ORGANELLE_FISSION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_MUSCLE_CONTRACTION;GO_SISTER_CHROMATID_SEGREGATION;GO_HEART_MORPHOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGAN_MORPHOGENESIS;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIN_MEDIATED_CELL_CONTRACTION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CELL_CYCLE;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_CARDIOCYTE_DIFFERENTIATION;GO_DETECTION_OF_STIMULUS;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MUSCLE_HYPERTROPHY;GO_MUSCLE_FIBER_DEVELOPMENT;GO_HEART_PROCESS;GO_MUSCLE_SYSTEM_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIN_FILAMENT_ORGANIZATION;GO_EXOCYTOSIS;GO_PLATELET_DEGRANULATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_MUSCLE_CELL_DEVELOPMENT;GO_DNA_PACKAGING;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_REGULATED_EXOCYTOSIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_MITOTIC_CHROMOSOME_CONDENSATION;GO_CARDIAC_CELL_DEVELOPMENT;GO_RESPONSE_TO_CALCIUM_ION	GO_I_BAND;GO_CHROMOSOME;GO_CONDENSED_NUCLEAR_CHROMOSOME;GO_MUSCLE_MYOSIN_COMPLEX;GO_ACTIN_CYTOSKELETON;GO_MYOFILAMENT;GO_M_BAND;GO_NUCLEAR_CHROMOSOME;GO_CONTRACTILE_FIBER;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_CONDENSED_CHROMOSOME;GO_A_BAND;GO_MYOSIN_II_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_SELF_ASSOCIATION;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_ACTIN_BINDING;GO_KINASE_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_PROTEASE_BINDING;GO_KINASE_ACTIVITY;GO_ACTININ_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_PROTEIN_COMPLEX_BINDING;GO_CALMODULIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ALPHA_ACTININ_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_DILATED_CARDIOMYOPATHY	.	.	.	Cytoplasmic expression mainly in heart and skeletal muscle.	http://www.proteinatlas.org/ENSG00000155657-TTN/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	heart muscle: 35.2	.	.	BP6, BP7, PM2
L	2	186654662	rs765620556	A	C	222	PASS	FSIP2	Fibrous sheath-interacting protein 2	exonic	NM_173651	.	synonymous SNV	FSIP2:NM_173651:exon16:c.A2799C:p.V933V	ENST00000436557.5,ENSG00000188738.14,ENSG00000231646.5,ENST00000424728.5,ENST00000429929.1	.	2q32.1	.	.	.	.	.	rs765620556	.	.	.	.	.	.	0.00009274	161744	0.00130730	11474	0.00077821	.	.	.	.	.	.	.	.	.	.	.	.	-0.584	-0.260	.	.	.	VDB=0.907909;SGB=-0.693021;RPB=0.94507;MQB=8.52748e-05;MQSB=0.13303;BQB=0.483717;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=70;DP4=23,6,20,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:38:.:.	0/0:30:.:.	0/0:50:.:.	0/0:32:.:.	0/0:50:.:.	0/1:56:255,0,255:29,27	A	C	0	1	Fibrous sheath-interacting protein 2, 615796	.	.	.	12606363	.	GO_MITOCHONDRION	.	.	.	.	.	Normal tissues displayed moderate to strong cytoplasmic immunoreactivity with a granular pattern.	http://www.proteinatlas.org/ENSG00000188738-FSIP2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 1.4	cytoskeleton (microtubules); mitochondria	.	BP7, PM2
H	2	186668785	rs572646479	C	G	222	PASS	FSIP2	Fibrous sheath-interacting protein 2	exonic	NM_173651	.	missense SNV	FSIP2:NM_173651:exon17:c.C14752G:p.L4918V	ENST00000415915.5,ENSG00000188738.14,ENST00000424728.5	.	2q32.1	.	.	.	.	.	rs572646479	.	.	0.00664452	0.005	0.000998403	.	0.00024383	155846	0.00341052	11142	0.00233372	.	.	.	.	0.041,D	.	.	1,N	.	1.905,L	0.78,T	5.1631	-0.268	-2.060	1.393250,12.75	.	.	VDB=0.340253;SGB=-0.692831;RPB=0.993326;MQB=7.58256e-10;MQSB=0.86781;BQB=0.969984;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=20,15,12,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:59:255,0,255:35,24	C	G	0	1	Fibrous sheath-interacting protein 2, 615796	.	.	.	12606363	.	GO_MITOCHONDRION	.	.	.	.	.	Normal tissues displayed moderate to strong cytoplasmic immunoreactivity with a granular pattern.	http://www.proteinatlas.org/ENSG00000188738-FSIP2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 1.4	cytoskeleton (microtubules); mitochondria	.	.
L	2	187559052	.	A	AACC	217	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.152_153insACC:p.Q51delinsQP	ENST00000304698.9,ENST00000453665.1,ENSG00000227227.1,ENST00000612606.1,ENSG00000144369.12	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00913686	0.00144509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00401502;SGB=-0.693147;MQSB=0.110832;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=242;DP4=23,5,61,61;IDV=2;IMF=0.00826446;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:54:.:.	0/0:127:.:.	0/0:53:.:.	0/0:57:.:.	0/0:52:.:.	0/0:52:.:.	0/0:51:.:.	0/1:150:252,0,34:28,122	A	AACC	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559055	.	A	AACC	227	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.155_156insACC:p.Q52delinsQP	ENST00000612606.1,ENSG00000227227.1,ENSG00000144369.12,ENST00000304698.9,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00952196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.824306;SGB=-0.693147;MQSB=0.636988;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=871;DP4=76,20,202,195;IDV=4;IMF=0.0229885;MinDP=51;AN=16;AC=6	GT:DP:PL:AD	0/0:65:.:.	0/0:54:.:.	0/1:104:255,0,255:34,70	1/1:127:243,54,0:16,111	0/0:57:.:.	./.:.:.:.	0/1:112:255,0,68:21,91	0/0:51:.:.	1/1:150:254,7,0:25,125	A	AACC	2	2	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559056	.	A	ACAC	226	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.156_157insCAC:p.Q52delinsQH	ENSG00000144369.12,ENSG00000227227.1,ENST00000612606.1,ENST00000453665.1,ENST00000304698.9	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01438010	0.00141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0254133;SGB=-0.693147;MQSB=0.856809;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=802;DP4=75,19,214,211;IDV=5;IMF=0.0231214;MinDP=50;AN=18;AC=5	GT:DP:PL:AD	0/0:65:.:.	0/0:54:.:.	0/0:127:.:.	0/0:50:.:.	0/1:128:255,0,26:25,103	0/0:50:.:.	0/1:111:255,0,63:20,91	0/1:132:255,0,104:24,108	1/1:148:255,0,3:25,123	A	ACAC	1	3	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559058	.	A	AACC	228	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.158_159insACC:p.Q53delinsQP	ENST00000612606.1,ENSG00000227227.1,ENSG00000144369.12,ENST00000304698.9,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01243684	0.00420168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0343638;SGB=-0.693147;MQSB=0.479129;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=875;DP4=60,24,243,238;IDV=4;IMF=0.0163934;MinDP=47;AN=18;AC=6	GT:DP:PL:AD	0/0:65:.:.	0/1:157:237,0,14:22,135	0/0:127:.:.	1/1:128:255,60,0:15,113	0/0:52:.:.	0/0:50:.:.	0/0:47:.:.	0/1:131:243,0,87:22,109	1/1:149:255,0,0:25,124	A	AACC	2	2	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559059	.	A	ACAC	228	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.159_160insCAC:p.Q53delinsQH	ENSG00000144369.12,ENST00000612606.1,ENSG00000227227.1,ENST00000453665.1,ENST00000304698.9	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01554606	0.00560224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0108255;SGB=-0.693147;MQSB=0.679832;MQ0F=0;MQ=48;ICB=1;HOB=0.5;DP=1480;DP4=121,31,379,403;IDV=8;IMF=0.0357143;MinDP=53;AN=18;AC=11	GT:DP:PL:AD	0/0:65:.:.	1/1:161:221,15,0:21,140	0/1:109:255,0,249:34,75	0/0:53:.:.	1/1:134:255,16,0:22,112	1/1:133:255,34,0:16,117	0/1:113:255,0,37:18,95	0/1:127:255,0,46:18,109	1/1:157:255,40,0:23,134	A	ACAC	4	3	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559061	.	A	AACC	228	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.161_162insACC:p.Q54delinsQP	ENST00000453665.1,ENST00000304698.9,ENSG00000144369.12,ENST00000612606.1,ENSG00000227227.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00971628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0842647;SGB=-0.693146;MQSB=0.804471;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=1399;DP4=81,37,368,374;IDV=3;IMF=0.0169492;MinDP=54;AN=18;AC=12	GT:PL:DP:AD	0/1:255,0,156:58:14,44	1/1:200,1,0:158:21,137	0/0:.:135:.	1/1:255,71,0:131:15,116	0/0:.:54:.	1/1:245,3,0:123:15,108	1/1:255,9,0:111:14,97	0/1:245,0,45:131:18,113	1/1:255,37,0:148:21,127	A	AACC	5	2	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559062	.	A	ACAC	228	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.162_163insCAC:p.Q54delinsQH	ENSG00000144369.12,ENSG00000227227.1,ENST00000612606.1,ENST00000453665.1,ENST00000304698.9	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.02565099	0.00139665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00316985;SGB=-0.693147;MQSB=0.47047;MQ0F=0;MQ=48;ICB=1;HOB=0.5;DP=1505;DP4=83,24,383,403;IDV=6;IMF=0.031746;MinDP=54;AN=18;AC=13	GT:DP:PL:AD	0/0:77:.:.	1/1:154:255,44,0:17,137	0/1:108:255,0,233:34,74	1/1:133:255,138,0:11,122	0/0:54:.:.	1/1:126:255,69,0:12,114	1/1:108:255,50,0:10,98	1/1:123:244,0,2:14,109	1/1:141:255,187,0:9,132	A	ACAC	6	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
L	2	187559064	.	A	AACC	228	PASS	FAM171B	.	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.164_165insACC:p.Q55delinsQP	ENSG00000144369.12,ENST00000612606.1,ENSG00000227227.1,ENST00000453665.1,ENST00000304698.9	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01554606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0165893;SGB=-0.693147;MQSB=0.387099;MQ0F=0;MQ=48;ICB=1;HOB=0.5;DP=1136;DP4=72,18,293,301;IDV=4;IMF=0.0212766;MinDP=77;AN=18;AC=9	GT:DP:PL:AD	0/0:77:.:.	1/1:158:210,32,0:19,139	0/1:106:255,0,239:34,72	1/1:141:255,138,0:12,129	0/0:100:.:.	1/1:129:255,67,0:12,117	0/0:100:.:.	0/0:100:.:.	1/1:150:255,129,0:13,137	A	AACC	4	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000144369-FAM171B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 12.8	nucleus; mitochondria	.	BP3
H	2	201722431	rs2301982	A	G	213	PASS	CLK1	CDC-like kinase 1	splicing	NM_001162407,NM_004071	NM_001162407:exon7:c.958+10T>C;NM_004071:exon7:c.832+10T>C	.	.	ENST00000409403.6,ENST00000409769.6,ENST00000621181.4,ENST00000432425.5,ENST00000321356.8,ENSG00000013441.15,ENST00000461981.5,ENST00000434813.3,ENST00000473565.5	.	2q33.1	.	.	.	.	.	rs2301982	.	.	0.0166113	0.0179	0.00399361	0.0002	0.00198049	253472	0.02609637	18470	0.01982122	0.02816901	.	-0.0089	.	.	.	.	.	.	.	.	.	0.364	1.482	1.369699,12.63	2.76	.	VDB=0.357216;SGB=-0.676189;RPB=0.951033;MQB=0.00737462;MQSB=0.782349;BQB=0.818054;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=28;DP4=7,3,8,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:246,0,226:10,11	A	G	0	1	CDC-like kinase 1, 601951	.	.	.	1825055|8798720|7990150|1986248|1704889|20081832|9856501	GO_PEPTIDYL_SERINE_MODIFICATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_THREONINE_MODIFICATION;GO_CELL_PROLIFERATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RNA_SPLICING	.	GO_PROTEIN_SERINE_THREONINE_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000013441-CLK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 70.8	nuclear membrane; nucleus but not nucleoli	.	.
L	2	202342486	rs182055817	G	A	222	PASS	STRADB	STE20-related kinase adaptor beta	exonic	NM_001206864,NM_018571	.	synonymous SNV	STRADB:NM_001206864:exon8:c.G693A:p.P231P,STRADB:NM_018571:exon8:c.G693A:p.P231P	ENST00000458269.6,ENSG00000082146.12,ENST00000194530.7,ENST00000392249.6,ENST00000498648.5,ENST00000468123.1	.	2q33.1	.	.	Score=803;Name=V$HTF_01	.	.	rs182055817	.	.	0.00830565	0.0069	0.00139776	.	0.00045495	276954	0.00604134	18870	0.00544112	0.00264085	.	-0.1632	.	.	.	.	.	.	.	.	.	1.302	0.959	0.900191,10.08	2.49	.	VDB=0.169653;SGB=-0.693147;RPB=0.781399;MQB=2.57011e-07;MQSB=0.473862;BQB=0.921349;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=146;DP4=37,26,32,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:97:.:.	0/0:72:.:.	0/0:50:.:.	0/0:51:.:.	0/1:111:255,0,255:63,48	G	A	0	1	STE20-related kinase adaptor beta, 607333	.	.	.	11161814|12048196	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_PROTEIN_EXPORT_FROM_NUCLEUS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CELL_CYCLE_ARREST;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NUCLEAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_NUCLEAR_EXPORT;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_LKB1_PATHWAY	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_PI3K_CASCADE	Cytoplasmic expression in selected cell types including pancreatic islets, heart, hepaocytes, renal tubules and gallbladder.	http://www.proteinatlas.org/ENSG00000082146-STRADB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 32.3	nucleus	.	.
M	2	207175259	rs566988268	A	G	222	PASS	ZDBF2	Zinc finger DBF domain-containing protein 2	exonic	NM_001285549,NM_020923	.	missense SNV	ZDBF2:NM_020923:exon5:c.A6007G:p.M2003V,ZDBF2:NM_001285549:exon7:c.A6001G:p.M2001V	ENSG00000204186.7,ENST00000611847.1,ENST00000374423.7	.	2q33.3	.	.	.	.	.	rs566988268	.	.	0.00332226	0.002	0.000399361	.	0.00003672	245124	0.00052356	17190	0.00038865	.	.	.	.	1.0,T	0.0,B	0.0,B	1,N	.	0.345,N	1.18,T	10.3905	-0.483	-0.686	.	.	0.00568188130265	VDB=0.195979;SGB=-0.692831;RPB=0.976835;MQB=3.67579e-07;MQSB=0.8978;BQB=0.793339;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=119;DP4=25,21,25,18;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:24,24	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/1:41:255,0,255:22,19	A	G	0	2	Zinc finger DBF domain-containing protein 2, 617059	.	.	.	23636874|27139419|24589776|27841881|19200453|10997877	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Normal tissues generally displayed weak to moderate cytoplasmic staining which in a few tissues was combined with membranous and/or nuclear positivity. The prostate was strongly stained.	http://www.proteinatlas.org/ENSG00000204186-ZDBF2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 6.5	nucleus but not nucleoli; cytoplasm	.	BP4, PM2
H	2	212285257	rs769751950	T	A	222	PASS	ERBB4	Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4	exonic	NM_001042599,NM_005235	.	missense SNV	ERBB4:NM_001042599:exon25:c.A3044T:p.D1015V,ERBB4:NM_005235:exon25:c.A3044T:p.D1015V	ENST00000342788.8,ENSG00000178568.14,ENST00000436443.5,ENST00000402597.6	.	2q34	.	.	Score=851;Name=V$EVI1_05	.	.	rs769751950	.	.	.	.	.	.	0.00000814	245762	.	.	.	.	.	-1.0187	.	0.001,D	0.711,P	0.98,D	1,D	0.000000,D	2.985,M	-0.99,T	16.2792	2.243	8.012	6.826310,33	5.88	0.08964350745	VDB=0.0801193;SGB=-0.689466;RPB=0.962607;MQB=7.9194e-07;MQSB=0.822734;BQB=0.858611;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=19,5,11,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/0:30:.:.	0/1:40:255,0,255:24,16	T	A	0	1	Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant	.	.	.	15543145|14555954|15976301|20393464|15473965|10725395|7477376|10655590|16767099|10839362|17521571|16615895|15583696|11679632|21441918|19718025|17018285|16402353|9771476|24119685|17521572|7700649	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_LIPID_MODIFICATION;GO_OLFACTORY_BULB_INTERNEURON_DIFFERENTIATION;GO_EPITHELIUM_DEVELOPMENT;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_KINASE_ACTIVITY;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_POSITIVE_REGULATION_OF_HEART_GROWTH;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_MAMMARY_GLAND_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGENERATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_STAT_CASCADE;GO_REGULATION_OF_CARDIAC_MUSCLE_CELL_PROLIFERATION;GO_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_ERBB2_SIGNALING_PATHWAY;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_FOREBRAIN_GENERATION_OF_NEURONS;GO_WOUND_HEALING;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELL_MOTILITY;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SECRETION;GO_EMBRYO_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_NEURAL_CREST_CELL_MIGRATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_ORGAN_GROWTH;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_CELL_PROLIFERATION;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_EMBRYONIC_PATTERN_SPECIFICATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_MIGRATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_HEART_DEVELOPMENT;GO_TISSUE_REGENERATION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_LOCOMOTION;GO_MAMMARY_GLAND_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_GROWTH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_POSITIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_HEAD_DEVELOPMENT;GO_OLFACTORY_LOBE_DEVELOPMENT;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CARDIAC_MUSCLE_CELL_PROLIFERATION;GO_LIPID_PHOSPHORYLATION;GO_MITOCHONDRION_ORGANIZATION;GO_CELL_FATE_COMMITMENT;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_BODY_FLUID_SECRETION;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT;GO_MESENCHYME_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_MAMMARY_GLAND_LOBULE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_STEM_CELL_DIFFERENTIATION;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT5_PROTEIN;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_HEART_GROWTH;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_GLAND_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT5_PROTEIN;GO_REGULATION_OF_STAT_CASCADE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PATTERN_SPECIFICATION_PROCESS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGAN_GROWTH;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_APOPTOTIC_MITOCHONDRIAL_CHANGES;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEURAL_CREST_CELL_DIFFERENTIATION;GO_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_PROTEIN_TARGETING;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_LACTATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_RECEPTOR_COMPLEX;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_EPIDERMAL_GROWTH_FACTOR_RECEPTOR_BINDING;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_IDENTICAL_PROTEIN_BINDING;GO_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_RECEPTOR_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS	PID_ERBB4_PATHWAY;PID_ERBB_NETWORK_PATHWAY	BIOCARTA_HER2_PATHWAY	REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_GRB2_EVENTS_IN_ERBB2_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_SHC1_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4	Ubiquitous nuclear and cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000178568-ERBB4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 0.7	.	.	PM2, PP2, PP3
H	2	220089381	rs183286778	C	T	222	PASS	ATG9A	Autophagy 9, S. cerevisiae, homolog of, A	exonic	NM_001077198,NM_024085	.	missense SNV	ATG9A:NM_024085:exon7:c.G712A:p.G238R,ATG9A:NM_001077198:exon8:c.G712A:p.G238R	ENST00000409618.5,ENST00000396761.6,ENST00000409033.7,ENST00000409422.5,ENST00000361242.8,ENSG00000198925.10	.	2q35	.	.	.	.	.	rs183286778	.	.	0	.	0.000399361	8e-05	0.00011544	277212	0.00053000	18868	.	.	.	-0.3340	.	0.0,D	0.771,P	0.992,D	1,D	0.000051,D	1.595,L	1.39,T	18.146	2.366	7.782	6.337946,29.3	5.11	0.0251597749204	VDB=0.00390539;SGB=-0.693147;RPB=0.883443;MQB=5.17531e-18;MQSB=0.789112;BQB=0.880973;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=152;DP4=39,18,37,21;MinDP=58;AN=18;AC=1	GT:DP:PL:AD	0/0:58:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:71:.:.	0/0:60:.:.	0/0:100:.:.	0/1:115:255,0,255:57,58	C	T	0	1	Autophagy 9, S. cerevisiae, homolog of, A, 612204	.	.	.	15755735	GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MACROAUTOPHAGY;GO_AUTOPHAGY;GO_ORGANELLE_ASSEMBLY;GO_VACUOLE_ORGANIZATION;GO_MITOCHONDRION_ORGANIZATION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_NUCLEOPHAGY;GO_MEMBRANE_INVAGINATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_AUTOPHAGOSOME_ORGANIZATION;GO_ORGANELLE_DISASSEMBLY	GO_PRE_AUTOPHAGOSOMAL_STRUCTURE;GO_AUTOPHAGOSOME;GO_LATE_ENDOSOME_MEMBRANE;GO_VACUOLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_AUTOPHAGOSOME_MEMBRANE;GO_ENDOSOMAL_PART;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_RECYCLING_ENDOSOME;GO_ENDOSOME;GO_ORGANELLE_SUBCOMPARTMENT;GO_VACUOLAR_MEMBRANE	.	.	.	.	.	Renal tubules and subset of cells in stomach and exocrine pancreas showed strong cytoplasmic positivity. Bronchus, intestinal glands, gall bladder, adrenal gland, endometrial glands and cardiac myocytes were moderately stained. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000198925-ATG9A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 60.5	vesicles	.	PM2, PP3
L	2	220404252	rs576858390	C	T	222	PASS	CHPF	Chondroitin polymerizing factor	exonic	NM_001195731,NM_024536	.	synonymous SNV	CHPF:NM_001195731:exon4:c.G1695A:p.L565L,CHPF:NM_024536:exon4:c.G2181A:p.L727L	ENSG00000123989.13,ENST00000535926.2,ENST00000243776.10	CpG: 74	2q35	.	.	.	.	.	rs576858390	.	.	0	0.001	0.000199681	.	0.00007237	276358	0.00100860	18838	0.00038865	.	.	.	.	.	.	.	.	.	.	.	.	0.573	1.603	.	2.62	.	VDB=0.294422;SGB=-0.693139;RPB=0.446015;MQB=1.43287e-09;MQSB=0.575447;BQB=0.865604;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=103;DP4=31,15,25,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:82:255,0,255:46,36	C	T	0	1	Chondroitin polymerizing factor, 610405	.	.	.	12716890|12761225	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_STACK;GO_GOLGI_CISTERNA;GO_GOLGI_APPARATUS_PART;GO_MITOCHONDRIAL_MATRIX;GO_GOLGI_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_GOLGI_APPARATUS;GO_GOLGI_CISTERNA_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	GO_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GLUCURONOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	Most of the normal tissues displayed moderate cytoplasmic and occasional membranous positivity.	http://www.proteinatlas.org/ENSG00000123989-CHPF/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 53.3	cytoplasm; vesicles; centrosome	.	PM2
H	2	224463820	rs16864976	A	G	222	PASS	SCG2	Secretogranin II (chromogranin C)	exonic	NM_003469	.	missense SNV	SCG2:NM_003469:exon2:c.T181C:p.Y61H	ENST00000433889.1,ENSG00000171951.4,ENST00000421386.1,ENST00000305409.2	.	2q36.1	.	.	.	.	.	rs16864976	.	.	0.0299003	0.0317	0.00638978	.	0.00165308	277058	0.02384990	18868	0.01846094	0.02200704	.	.	.	0.0,D	1.0,D	1.0,D	1,D	0.000000,D	2.515,M	4.59,T	16.2585	2.295	8.326	5.573076,26.4	5.7	.	VDB=0.29452;SGB=-0.692831;RPB=0.808412;MQB=8.80492e-08;MQSB=0.944011;BQB=0.957468;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=75;DP4=19,10,14,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:47:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:53:255,0,255:29,24	A	G	0	1	Secretogranin II (chromogranin C), 118930	.	.	.	9473216|3296906|7568909|2745426|14970115|8492910|8617499|6413211|7297761|1468571|18079966	GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_MYELOID_LEUKOCYTE_MIGRATION;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_SECRETION_BY_CELL;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_INDUCTION_OF_POSITIVE_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_POSITIVE_CHEMOTAXIS;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_LEUKOCYTE_CHEMOTAXIS;GO_DEFENSE_RESPONSE;GO_CELL_MOTILITY;GO_ENDOTHELIAL_CELL_MIGRATION;GO_SECRETION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_TISSUE_MIGRATION;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GRANULOCYTE_MIGRATION;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_ANGIOGENESIS;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_PHOSPHORYLATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_CHEMOTAXIS	GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_DENSE_CORE_GRANULE	GO_CHEMOATTRACTANT_ACTIVITY;GO_RECEPTOR_BINDING;GO_CYTOKINE_ACTIVITY	.	.	.	.	Cytoplasmic expression in CNS and gastrointestinal tract as well as in a few other tissues.	http://www.proteinatlas.org/ENSG00000171951-SCG2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	duodenum: 34.1	.	.	PP3
L	2	227917112	rs79470996	G	A	164	PASS	COL4A4	Collagen IV, alpha-4 polypeptide	exonic	NM_000092	.	synonymous SNV	COL4A4:NM_000092:exon32:c.C2877T:p.P959P	ENSG00000081052.11,ENST00000396625.3	.	2q36.3	.	.	.	.	.	rs79470996	Uncertain significance;Alport_syndrome;RCV000391274.1;MedGen:Orphanet;C1567741:ORPHA63	.	0.0116279	0.0119	0.00239617	.	0.00095620	277140	0.01325416	18862	0.01029926	0.00704225	.	-2.4465	.	.	.	.	.	.	.	.	.	-1.885	-0.472	.	.	.	VDB=0.511505;SGB=-0.662043;RPB=0.496717;MQB=0.00105192;MQSB=0.995301;BQB=0.953497;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=10,8,4,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:27:197,0,255:18,9	G	A	0	1	Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign (3)	.	.	.	11961012|9792860|2438283|2318822|1429714|7523402|8787673|9195222|8083201|1639407|25575550|7987396|9537506|3417661|8662866	GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_GLOMERULUS_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_NEPHRON_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_BASAL_LAMINA;GO_ENDOPLASMIC_RETICULUM_PART;GO_BASEMENT_MEMBRANE;GO_COMPLEX_OF_COLLAGEN_TRIMERS;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_ENDOPLASMIC_RETICULUM;GO_COLLAGEN_TRIMER	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	.	http://www.proteinatlas.org/ENSG00000081052-COL4A4/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	kidney: 8.3	.	.	BP7
H	2	228560645	rs117864472	T	C	214	PASS	SLC19A3	Solute carrier family 19 (folate transporter), member 3	exonic	NM_025243	.	missense SNV	SLC19A3:NM_025243:exon4:c.A1132G:p.I378V	ENST00000409287.5,ENST00000258403.7,ENST00000425817.5,ENSG00000135917.13	.	2q36.3	.	.	.	.	.	rs117864472	Likely benign|Likely benign;Thiamine_Metabolism_Dysfunction_Syndrome|not_specified;RCV000389810.1|RCV000439271.1;MedGen|MedGen;CN239434|CN169374	.	0.0282392	0.0188	0.00379393	0.0002	0.00184330	277220	0.02490990	18868	0.03245239	0.02992958	.	-0.0165	Major facilitator superfamily domain	0.411,T	0.061,B	0.063,B	0.999371,D	0.050485,N	1.41,L	-2.05,D	3.8726	-1.180	-1.289	.	.	.	VDB=0.0267435;SGB=-0.691153;RPB=0.422322;MQB=8.16041e-06;MQSB=0.350484;BQB=0.9995;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=42;DP4=12,6,14,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:29:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:36:247,0,255:18,18	T	C	0	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive	.	.	.	20065143|11136550|23423671|19387023|11731220|19879271|16790503|21868632|25117056|23469184|15871139	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_TRANSPORT;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_VITAMIN_TRANSPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORT;GO_VITAMIN_METABOLIC_PROCESS;GO_TRANSMEMBRANE_TRANSPORT;GO_AZOLE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_VITAMIN_TRANSPORTER_ACTIVITY;GO_SULFUR_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_DRUG_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	Membranous expression most abundant in placenta, kidney and ciliated cells.	http://www.proteinatlas.org/ENSG00000135917-SLC19A3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	duodenum: 9.1	nucleus but not nucleoli; cytoplasm	.	BP6
L	2	232079570	rs143756333	C	T	222	PASS	ARMC9	Armadillo repeat-containing protein 9	exonic	NM_001271466,NM_001291656,NM_025139	.	synonymous SNV	ARMC9:NM_001291656:exon4:c.C204T:p.N68N,ARMC9:NM_025139:exon4:c.C204T:p.N68N	ENST00000440107.5,ENSG00000135931.17,ENST00000611582.4,ENST00000614261.4,ENST00000349938.8,ENST00000482392.1	.	2q37.1	.	.	.	.	.	rs143756333	.	.	.	.	.	7.7e-05	0.00005412	277176	.	.	.	.	.	-0.7916	.	.	.	.	.	.	.	.	.	-1.475	0.075	1.564042,13.66	.	.	VDB=0.782983;SGB=-0.686358;RPB=0.926243;MQB=3.01918e-06;MQSB=0.693852;BQB=0.662066;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=54;DP4=18,5,9,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:37:255,0,255:23,14	C	T	0	1	Joubert syndrome 30, 617622 (3), Autosomal recessive	.	.	.	11347906|28625504	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000135931-ARMC9/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	smooth muscle: 20.4	nucleoli; cytoplasm	.	BP7, PM2
L	2	232323800	rs147885328	G	A	192	PASS	NCL	Nucleolin	exonic	NM_005381	.	synonymous SNV	NCL:NM_005381:exon7:c.C1077T:p.D359D	ENST00000461347.5,ENST00000322723.8,ENST00000494618.1,ENSG00000115053.15	.	2q37.1	.	.	.	.	.	rs147885328	.	.	0.0332226	0.0248	0.00539137	0.0003	0.00137380	258408	0.01872209	17466	0.01340847	0.01056338	.	-0.0164	.	.	.	.	.	.	.	.	.	1.244	-0.057	1.201538,11.76	2.48	.	VDB=0.18368;SGB=-0.680642;RPB=0.426055;MQB=0.000189555;MQSB=0.998948;BQB=0.311327;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=39;DP4=11,6,8,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:29:225,0,255:17,12	G	A	0	1	Nucleolin, 164035	.	.	.	12391018|11736641|16135517|16582966|8065311|18292223|10524220|17615292|2737305|2394707|21841784|21859890|16582619|10660576	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_ORGAN_REGENERATION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGENERATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_SEXUAL_REPRODUCTION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_SECRETION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_I_PROMOTER;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_LIVER_REGENERATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CYTOKINE_SECRETION;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_GAMETE_GENERATION;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_I_PROMOTER;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_GLAND_DEVELOPMENT;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_REPRODUCTION;GO_ANGIOGENESIS;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CYTOPLASMIC_REGION;GO_NUCLEOLAR_PART;GO_RIBONUCLEOPROTEIN_GRANULE;GO_CELL_SURFACE;GO_CELL_CORTEX;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_HISTONE_BINDING;GO_MRNA_BINDING;GO_EXTRACELLULAR_MATRIX_BINDING;GO_CALCIUM_ION_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_TELOMERIC_DNA_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_RRNA_BINDING;GO_SINGLE_STRANDED_DNA_BINDING;GO_POLY_A_RNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_LAMININ_BINDING;GO_RECEPTOR_BINDING;GO_RNA_BINDING	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_AURORA_B_PATHWAY;PID_MYC_ACTIV_PATHWAY;PID_TELOMERASE_PATHWAY;PID_UPA_UPAR_PATHWAY	BIOCARTA_SARS_PATHWAY	.	Nuclear expression in all cells.	http://www.proteinatlas.org/ENSG00000115053-NCL/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 278.5	nucleus; nucleoli	.	.
L	2	234749818	rs199517157	C	T	222	PASS	HJURP	Holliday junction recognition protein	exonic	NM_001282962,NM_001282963,NM_018410	.	synonymous SNV	HJURP:NM_001282963:exon5:c.G1353A:p.P451P,HJURP:NM_001282962:exon6:c.G1446A:p.P482P,HJURP:NM_018410:exon8:c.G1608A:p.P536P	ENST00000432087.5,ENSG00000123485.11,ENST00000411486.6,ENST00000414924.5,ENST00000441687.5	.	2q37.1	.	.	.	.	.	rs199517157	.	.	0	0.001	0.000399361	.	0.00007936	277228	0.00105988	18870	0.00097163	0.00264085	.	-0.1023	.	.	.	.	.	.	.	.	.	-2.662	-1.834	1.350198,12.53	.	.	VDB=0.320637;SGB=-0.693146;RPB=0.871427;MQB=1.32656e-13;MQSB=0.99882;BQB=0.99734;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=109;DP4=27,12,29,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:70:.:.	0/0:82:.:.	0/0:72:.:.	0/0:54:.:.	0/0:68:.:.	0/0:54:.:.	0/0:50:.:.	0/1:83:255,0,255:39,44	C	T	0	1	Holliday junction recognition protein, 612667	.	.	.	17823411	GO_ATP_DEPENDENT_CHROMATIN_REMODELING;GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_HISTONE_EXCHANGE;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CHROMATIN_MODIFICATION;GO_REGULATION_OF_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_CYCLE;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CHROMATIN_REMODELING;GO_REGULATION_OF_BINDING;GO_DNA_PACKAGING;GO_CENTROMERE_COMPLEX_ASSEMBLY;GO_DNA_REPLICATION_INDEPENDENT_NUCLEOSOME_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_KINETOCHORE;GO_CONDENSED_CHROMOSOME_CENTROMERIC_REGION;GO_CONDENSED_CHROMOSOME;GO_NUCLEOLUS	GO_HISTONE_BINDING;GO_IDENTICAL_PROTEIN_BINDING	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE	The majority of normal tissues displayed weak to moderate cytoplasmic staining. Strong staining was observed in prostate and in bone marrow. Glial cells and squamous epithelial cells were negative.	http://www.proteinatlas.org/ENSG00000123485-HJURP/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 10.2	nucleus; nucleoli; cytoplasm	.	BP7, PM2
L	2	242606175	rs186573415	A	G	222	PASS	ATG4B	Autophagy 4, S. cerevisiae, homolog of, B	exonic	NM_013325,NM_178326	.	synonymous SNV	ATG4B:NM_013325:exon8:c.A654G:p.P218P,ATG4B:NM_178326:exon8:c.A654G:p.P218P	ENST00000400771.7,ENSG00000168397.16,ENST00000429899.1,ENST00000494465.5,ENST00000482507.5,ENST00000344376.9,ENST00000404914.7,ENST00000402096.5,ENST00000405546.7,ENST00000428861.1	CpG: 36	2q37.3	.	.	.	.	.	rs186573415	.	.	0.0149502	0.0179	0.00359425	0.0002	0.00113217	256146	0.01405368	17362	0.00835600	0.00880282	.	0.1643	.	.	.	.	.	.	.	.	.	-4.576	-5.680	.	.	.	VDB=0.456313;SGB=-0.693145;RPB=0.793446;MQB=1.50158e-10;MQSB=0.992372;BQB=0.999774;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=115;DP4=20,26,19,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:52:.:.	0/0:51:.:.	0/0:50:.:.	0/1:87:255,0,255:46,41	A	G	0	1	Autophagy 4, S. cerevisiae, homolog of, B, 611338	.	.	.	14530254|12446702|10231032|16183633	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_PROTEIN_MATURATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MACROAUTOPHAGY;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_AUTOPHAGY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_LIPOPROTEIN_BIOSYNTHETIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_VACUOLE_ORGANIZATION;GO_MITOCHONDRION_ORGANIZATION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_NUCLEOPHAGY;GO_C_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_AUTOPHAGOSOME_ORGANIZATION;GO_PROTEOLYSIS;GO_ORGANELLE_DISASSEMBLY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_REGULATION_OF_AUTOPHAGY	.	.	.	General nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000168397-ATG4B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 22.6	.	.	BP7
L	3	5025248	rs184027436	G	A	222	PASS	BHLHE40	Basic helix-loop-helix family, member E40	exonic	NM_003670	.	synonymous SNV	BHLHE40:NM_003670:exon5:c.G1110A:p.K370K	ENSG00000134107.4,ENST00000256495.3	.	3p26.1	.	.	Score=874;Name=V$EVI1_05	.	.	rs184027436	.	.	0.00166113	0.002	0.000399361	.	0.00009018	277216	0.00132499	18868	0.00058298	0.00176056	.	.	.	.	.	.	.	.	.	.	.	1.329	2.339	1.035110,10.86	3.71	.	VDB=0.384298;SGB=-0.693147;RPB=0.975678;MQB=6.7399e-15;MQSB=0.640095;BQB=0.494108;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=200;DP4=68,23,37,21;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:149:255,0,255:91,58	G	A	0	1	Basic helix-loop-helix family, member E40, 604256	.	.	.	10449910|9284045|12397359|16878149|15994878|15223310|18025081|9361282|9240428|17502421|11668339|15665827|19679564|22905217|20347428|11879638	GO_CIRCADIAN_RHYTHM;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_PHOTOPERIODISM;GO_ENTRAINMENT_OF_CIRCADIAN_CLOCK_BY_PHOTOPERIOD;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_RADIATION;GO_ENTRAINMENT_OF_CIRCADIAN_CLOCK;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_GOLGI_APPARATUS;GO_NUCLEOLUS	GO_BHLH_TRANSCRIPTION_FACTOR_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_E_BOX_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING	KEGG_CIRCADIAN_RHYTHM_MAMMAL	PID_HIF2PATHWAY;PID_CIRCADIAN_PATHWAY;PID_HIF1_TFPATHWAY	.	REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_CIRCADIAN_CLOCK	Most normal tissues showed weak to moderate nuclear and/or cytoplasmic positivity. Placental trophoblasts exhibited strong cytoplasmic and membranous immunoreactivity. Strong nuclear staining was observed in respiratory epithelial cells of nasopharynx. The lung, fallopian tubes, thyroid, skeletal muscle, small intestine and renal glomeruli were in general negative.	http://www.proteinatlas.org/ENSG00000134107-BHLHE40/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 183.2	nucleus; golgi apparatus	.	PM2
L	3	9055162	rs533590250	G	A	222	PASS	SRGAP3	Slit-robo GTPase-activating protein, rho, 3	exonic	NM_001033117,NM_014850	.	synonymous SNV	SRGAP3:NM_001033117:exon17:c.C1905T:p.F635F,SRGAP3:NM_014850:exon17:c.C1977T:p.F659F	ENST00000475560.5,ENST00000618999.4,ENST00000383836.7,ENST00000518265.5,ENST00000360413.7,ENSG00000196220.15	.	3p25.3	.	.	Score=899;Name=V$TAL1BETAITF2_01	.	.	rs533590250	.	.	0	0.001	0.000199681	.	0.00004702	276454	0.00037116	18860	0.00019433	.	.	-0.5878	.	.	.	.	.	.	.	.	.	-0.149	0.150	1.517536,13.41	.	.	VDB=0.0493421;SGB=-0.692976;RPB=0.290256;MQB=1.61621e-07;MQSB=0.99665;BQB=0.952881;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=7,17,10,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:50:255,0,255:24,26	G	A	0	1	Slit-robo GTPase-activating protein, rho, 3, 606525	.	.	.	12195014|9455477|19363522|12447388|11672528	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_RHO_GTPASE_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_RAC_GTPASE_BINDING;GO_ENZYME_BINDING;GO_GTPASE_BINDING	KEGG_AXON_GUIDANCE	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR	Cytoplasmic expression in a subset of tissues including urinary bladder, fallopian tube and cells of the CNS.	http://www.proteinatlas.org/ENSG00000196220-SRGAP3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	urinary bladder: 3.8	nucleus but not nucleoli	.	BP7, PM2
L	3	9971734	rs745458643	C	T	222	PASS	IL17RC	Interleukin 17 receptor C	exonic	NM_001203263,NM_001203264,NM_001203265,NM_032732,NM_153460,NM_153461	.	synonymous SNV	IL17RC:NM_001203265:exon12:c.C1083T:p.D361D,IL17RC:NM_001203264:exon13:c.C1128T:p.D376D,IL17RC:NM_032732:exon13:c.C1134T:p.D378D,IL17RC:NM_001203263:exon14:c.C1179T:p.D393D,IL17RC:NM_153460:exon14:c.C1179T:p.D393D,IL17RC:NM_153461:exon14:c.C1392T:p.D464D	ENST00000461995.5,ENST00000451231.5,ENST00000413608.2,ENST00000464406.5,ENSG00000163702.18,ENST00000494365.5,ENST00000416074.6,ENST00000436503.5,ENST00000383812.8,ENST00000498214.5,ENST00000455057.5,ENST00000466046.5,ENST00000497387.5,ENST00000483582.5,ENST00000451271.5,ENST00000403601.7,ENST00000295981.7	.	3p25.3	.	.	.	.	.	rs745458643	.	.	.	.	.	.	0.00000406	246072	0.00005798	17246	.	.	.	-0.8578	.	.	.	.	.	.	.	.	.	-0.361	-0.196	1.007872,10.71	.	.	VDB=0.636951;SGB=-0.693147;RPB=0.854585;MQB=1.89468e-16;MQSB=0.589603;BQB=0.515306;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=141;DP4=36,18,33,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:109:255,0,255:54,55	C	T	0	1	Candidiasis, familial, 9, 616445 (3), Autosomal recessive	.	.	.	11706037|20554964|25918342|16785495	GO_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_MYELOID_LEUKOCYTE_MIGRATION;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_LEUKOCYTE_CHEMOTAXIS;GO_DEFENSE_RESPONSE;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_SECRETION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_GRANULOCYTE_MIGRATION;GO_LOCOMOTION;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_POSITIVE_REGULATION_OF_CYTOKINE_SECRETION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_RESPONSE_TO_FUNGUS;GO_REGULATION_OF_TRANSPORT;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_DEFENSE_RESPONSE_TO_FUNGUS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_CYTOKINE_RECEPTOR_ACTIVITY;GO_RECEPTOR_BINDING	.	.	.	.	Cytoplasmic and membranous expression in a subset of tissues including the gastrointestinal tract, male genitalia, exocrine pancreas, fallopian tube and endothelial cells.	http://www.proteinatlas.org/ENSG00000163702-IL17RC/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 17.8	cytoskeleton (microtubules); centrosome	.	BP7, PM2
H	3	11849376	.	G	GA	34.3935	PASS	TAMM41	Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of	splicing	NM_001284401,NM_001321294,NM_001321295	NM_001284401:exon7:c.875-7->T;NM_001321294:exon8:c.752-7->T;NM_001321295:exon9:c.377-7->T	.	.	ENST00000444133.6,ENST00000414736.1,ENST00000273037.9,ENST00000457498.5,ENSG00000144559.10,ENST00000455809.5,ENST00000498127.5,ENST00000486090.1	.	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00001474	135676	0.00010099	9902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0176922;SGB=-0.692067;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=50;DP4=4,14,5,15;IDV=25;IMF=0.5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:31:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:38:67,0,57:18,20	G	GA	0	1	Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of, 614948	.	.	.	16790493|19114592|16943180	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_CDP_DIACYLGLYCEROL_METABOLIC_PROCESS;GO_CARDIOLIPIN_METABOLIC_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_MITOCHONDRIAL_ENVELOPE	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_NUCLEOTIDYLTRANSFERASE_ACTIVITY	.	.	.	.	Ciliated cell sin respiratory epithelium and fallopian tube displayed moderate cytoplasmic positivity. A subset of cells in endometrial glands were moderately stained. Other normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000144559-TAMM41/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 9.2	cytoplasm	.	PM2
L	3	13393631	rs144623047	G	A	222	PASS	NUP210	Nucleoporin, 210kD	exonic	NM_024923	.	synonymous SNV	NUP210:NM_024923:exon19:c.C2682T:p.D894D	ENSG00000132182.11,ENST00000420141.2,ENST00000254508.6,ENST00000479519.5	.	3p25.1	.	.	.	.	.	rs144623047	.	.	0.013289	0.0119	0.00299521	0.0007	0.00177228	277044	0.01404643	18866	0.01185848	0.00795053	.	-1.4769	.	.	.	.	.	.	.	.	.	-1.143	0.334	1.498605,13.31	.	.	VDB=0.288162;SGB=-0.690438;RPB=0.0427313;MQB=0.0100183;MQSB=0.293258;BQB=0.931519;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=96;DP4=11,22,21,19;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/1:30:255,0,255:13,17	0/0:30:.:.	0/1:43:255,0,255:20,23	G	A	0	2	Nucleoporin, 210kD, 607703	.	.	.	8672508|10048485|10469352	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MEMBRANE_DISASSEMBLY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_NUCLEAR_TRANSPORT;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_PROTEIN_SUMOYLATION;GO_TRNA_TRANSPORT;GO_VIRAL_LIFE_CYCLE;GO_MULTI_ORGANISM_LOCALIZATION;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_GENE_SILENCING;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MULTI_ORGANISM_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_NUCLEAR_ENVELOPE_ORGANIZATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_MEMBRANE_ORGANIZATION;GO_NUCLEUS_ORGANIZATION;GO_NUCLEAR_EXPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_RNA_LOCALIZATION;GO_GENE_SILENCING_BY_RNA;GO_CELL_CYCLE_PROCESS	GO_NUCLEAR_ENVELOPE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENVELOPE;GO_NUCLEAR_PORE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_NON_CODING_RNA;REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_TRANSPORT_OF_MATURE_TRANSCRIPT_TO_CYTOPLASM;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_MRNA_PROCESSING;REACTOME_TRANSPORT_OF_MATURE_MRNA_DERIVED_FROM_AN_INTRONLESS_TRANSCRIPT;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_GLUCOSE_TRANSPORT;REACTOME_METABOLISM_OF_RNA;REACTOME_INTERFERON_SIGNALING;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_NEP_NS2_INTERACTS_WITH_THE_CELLULAR_EXPORT_MACHINERY;REACTOME_HIV_INFECTION;REACTOME_TRANSPORT_OF_RIBONUCLEOPROTEINS_INTO_THE_HOST_NUCLEUS;REACTOME_HIV_LIFE_CYCLE;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS;REACTOME_REGULATION_OF_GLUCOKINASE_BY_GLUCOKINASE_REGULATORY_PROTEIN;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	General nuclear expression.	http://www.proteinatlas.org/ENSG00000132182-NUP210/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 34.2	nucleoli; mitochondria; vesicles	.	BP7
H	3	17208393	rs768158634	G	A	222	PASS	TBC1D5	TBC1 domain family, member 5	exonic	NM_001134381,NM_001349073,NM_001349074,NM_001349075,NM_001349076,NM_001349077,NM_001349078,NM_001349079,NM_001349080,NM_001349081,NM_001349082,NM_001349083,NM_001349084,NM_001349085,NM_001349086,NM_001349087,NM_001349088,NM_001349089,NM_001349090,NM_001349091,NM_014744	.	missense SNV	TBC1D5:NM_001349091:exon19:c.C1552T:p.R518C,TBC1D5:NM_001349080:exon20:c.C1960T:p.R654C,TBC1D5:NM_001349086:exon20:c.C1618T:p.R540C,TBC1D5:NM_001349087:exon20:c.C1552T:p.R518C,TBC1D5:NM_001349089:exon20:c.C1552T:p.R518C,TBC1D5:NM_001349073:exon21:c.C2026T:p.R676C,TBC1D5:NM_001349077:exon21:c.C1960T:p.R654C,TBC1D5:NM_001349078:exon21:c.C1960T:p.R654C,TBC1D5:NM_001349081:exon21:c.C1981T:p.R661C,TBC1D5:NM_001349083:exon21:c.C1618T:p.R540C,TBC1D5:NM_001349088:exon21:c.C1552T:p.R518C,TBC1D5:NM_001349090:exon21:c.C1552T:p.R518C,TBC1D5:NM_014744:exon21:c.C1960T:p.R654C,TBC1D5:NM_001349074:exon22:c.C2026T:p.R676C,TBC1D5:NM_001349075:exon22:c.C2026T:p.R676C,TBC1D5:NM_001349076:exon22:c.C1960T:p.R654C,TBC1D5:NM_001349079:exon22:c.C1960T:p.R654C,TBC1D5:NM_001349082:exon22:c.C1618T:p.R540C,TBC1D5:NM_001349084:exon22:c.C1618T:p.R540C,TBC1D5:NM_001349085:exon22:c.C1618T:p.R540C,TBC1D5:NM_001134381:exon23:c.C2026T:p.R676C	ENST00000446818.6,ENST00000253692.11,ENST00000429383.8,ENSG00000131374.14,ENST00000414318.2	.	3p24.3	.	.	Score=818;Name=V$RFX1_02	.	.	rs768158634	.	.	.	.	.	.	0.00002498	240222	0.00005946	16818	0.00019440	.	.	-1.5240	.	0.001,D	0.987,D	1.0,D	1,D	0.000005,D	1.845,L	0.96,T	18.8634	2.521	9.175	8.188463,35	5.09	0.0799942852875	VDB=0.0744092;SGB=-0.69311;RPB=0.879543;MQB=5.40802e-11;MQSB=0.325418;BQB=0.857302;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=80;DP4=11,27,4,27;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:69:255,0,255:38,31	G	A	0	1	TBC1 domain family, member 5, 615740	.	.	.	9039502|19531583	GO_REGULATION_OF_VESICLE_FUSION;GO_REGULATION_OF_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_MACROAUTOPHAGY;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AUTOPHAGY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_POSITIVE_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_REGULATION_OF_ENDOCYTOSIS;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_MACROMITOPHAGY;GO_POSITIVE_REGULATION_OF_AUTOPHAGY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_STARVATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_ORGANELLE_DISASSEMBLY;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSOLIC_TRANSPORT	GO_RETROMER_COMPLEX;GO_VESICLE_MEMBRANE;GO_AUTOPHAGOSOME;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_COATED_PIT;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_TRANSFERASE_COMPLEX;GO_VESICLE_COAT;GO_CLATHRIN_COAT;GO_CLATHRIN_COATED_VESICLE;GO_PROTEIN_KINASE_COMPLEX;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_CLATHRIN_VESICLE_COAT;GO_CLATHRIN_COAT_OF_COATED_PIT;GO_COATED_VESICLE_MEMBRANE;GO_CATALYTIC_COMPLEX;GO_VACUOLAR_PART;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOSOMAL_PART;GO_COATED_VESICLE;GO_AP_TYPE_MEMBRANE_COAT_ADAPTOR_COMPLEX;GO_CLATHRIN_COAT_OF_ENDOCYTIC_VESICLE;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE_MEMBRANE;GO_MEMBRANE_REGION;GO_COATED_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_CLATHRIN_ADAPTOR_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000131374-TBC1D5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 31.4	cytoplasm; golgi apparatus; plasma membrane	.	PM2, PP3
L	3	27444657	rs75615379	T	C	222	PASS	SLC4A7	Solute carrier family 4, sodium bicarbonate cotransporter, member 7	exonic	NM_001258379,NM_001258380,NM_001321103,NM_001321104,NM_001321105,NM_001321106,NM_001321107,NM_001321108,NM_003615	.	missense SNV	SLC4A7:NM_001258379:exon14:c.A1910G:p.N637S,SLC4A7:NM_001258380:exon14:c.A1895G:p.N632S,SLC4A7:NM_001321107:exon14:c.A1910G:p.N637S,SLC4A7:NM_001321108:exon14:c.A1922G:p.N641S,SLC4A7:NM_001321103:exon15:c.A2294G:p.N765S,SLC4A7:NM_001321104:exon15:c.A2255G:p.N752S,SLC4A7:NM_001321105:exon15:c.A2255G:p.N752S,SLC4A7:NM_001321106:exon15:c.A2243G:p.N748S,SLC4A7:NM_003615:exon15:c.A2267G:p.N756S	ENST00000437179.5,ENST00000457377.5,ENST00000425128.6,ENST00000446700.5,ENST00000419036.5,ENST00000295736.9,ENST00000438530.5,ENST00000428179.1,ENST00000428386.5,ENST00000454389.5,ENST00000455077.5,ENST00000440156.5,ENST00000437266.5,ENST00000445684.5,ENSG00000033867.16	.	3p24.1	.	.	.	.	.	rs75615379	.	.	0.0481728	0.0645	0.0161741	0.0004	0.00554423	275782	0.04692815	18816	0.03539479	0.03345070	.	-0.1081	Bicarbonate transporter, C-terminal	0.417,T	0.241,B	0.226,B	1,D	0.000000,D	0.48,N	-1.12,T	15.466	2.055	4.131	1.242731,11.97	5.43	.	VDB=0.0411368;SGB=-0.692067;RPB=0.19858;MQB=1.48358e-06;MQSB=0.969902;BQB=0.102741;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=46;DP4=14,3,17,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:37:255,0,236:17,20	T	C	0	1	Solute carrier family 4, sodium bicarbonate cotransporter, member 7, 603353	.	.	.	10362779|12808454|10850716|9610397|10347222|10198178|16301216|10652014	GO_NEURON_DEVELOPMENT;GO_ION_TRANSPORT;GO_EPITHELIUM_DEVELOPMENT;GO_CHEMICAL_HOMEOSTASIS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ANION_TRANSPORT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_EAR_DEVELOPMENT;GO_ORGANIC_ANION_TRANSPORT;GO_BICARBONATE_TRANSPORT;GO_AUDITORY_RECEPTOR_CELL_DIFFERENTIATION;GO_NEUROGENESIS;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DEVELOPMENT;GO_EPIDERMIS_DEVELOPMENT;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_AUDITORY_RECEPTOR_CELL_DEVELOPMENT;GO_MECHANORECEPTOR_DIFFERENTIATION;GO_REGULATION_OF_PH;GO_HAIR_CELL_DIFFERENTIATION;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_NEUROEPITHELIAL_CELL_DIFFERENTIATION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_NEURON_DIFFERENTIATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CELLULAR_PH;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT;GO_TISSUE_DEVELOPMENT;GO_INNER_EAR_RECEPTOR_CELL_DEVELOPMENT	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_STEREOCILIUM_BUNDLE;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_MEMBRANE_REGION	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CATION_SYMPORTER_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_BICARBONATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_ANION_EXCHANGER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	Membranous expression in small intestine and squamous epithelium of the tonsil.	http://www.proteinatlas.org/ENSG00000033867-SLC4A7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 46.7	plasma membrane; cytoplasm; focal adhesions	.	BS1, PM1
H	3	30029639	.	G	T	222	PASS	RBMS3	RNA-binding motif protein, single strand-interacting, 3	exonic	NM_001003792,NM_001003793,NM_001177711,NM_001177712,NM_014483	.	missense SNV	RBMS3:NM_001003792:exon12:c.G1050T:p.M350I,RBMS3:NM_001177711:exon12:c.G1056T:p.M352I,RBMS3:NM_014483:exon12:c.G1056T:p.M352I,RBMS3:NM_001003793:exon13:c.G1104T:p.M368I,RBMS3:NM_001177712:exon13:c.G1095T:p.M365I	ENST00000636680.1,ENSG00000144642.21,ENST00000434693.6,ENST00000637842.1,ENST00000383767.6,ENST00000456853.1,ENST00000383766.6,ENST00000273139.13,ENST00000452462.5,ENST00000497274.1,ENST00000473799.1	.	3p24.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0912	.	0.072,T	0.009,B	0.009,B	1,D	0.000025,D	1.415,L	1.74,T	20.0313	2.746	9.849	3.319326,22.9	5.79	0.0309586082434	VDB=0.601193;SGB=-0.69312;RPB=0.933882;MQB=2.2615e-07;MQSB=0.616526;BQB=0.765134;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=13,12,22,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:35:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:57:255,0,255:25,32	G	T	0	1	RNA-binding motif protein, single strand-interacting, 3, 605786	.	.	.	10675610	GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS	.	GO_MRNA_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_MRNA_3_UTR_BINDING	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000144642-RBMS3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 20.5	vesicles	.	PM2
H	3	32529424	.	A	C	222	PASS	CMTM6	CKLF-like marvel transmembrane domain-containing 6	splicing	NM_017801	NM_017801:exon3:c.414+6T>G	.	.	ENST00000205636.3,ENST00000478886.1,ENSG00000091317.7,ENST00000495177.1	.	3p22.3	.	.	Score=862;Name=V$NKX3A_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9916,0.888	-5.5218	.	.	.	.	.	.	.	.	.	2.222	3.702	1.392765,12.75	5.8	.	VDB=0.630413;SGB=-0.689466;RPB=0.637329;MQB=0.000461975;MQSB=0.657047;BQB=0.829029;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=33;DP4=8,0,13,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:255,0,159:8,16	A	C	0	1	CKLF-like marvel transmembrane domain-containing 6, 607889	.	.	.	12782130|28813410	GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LOCOMOTION	GO_EXTRACELLULAR_SPACE	GO_RECEPTOR_BINDING;GO_CYTOKINE_ACTIVITY	.	.	.	.	Uterine glands exhibited strong cytoplasmic positivity. The remaining normal tissues generally showed moderate cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000091317-CMTM6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 159.2	cytoplasm; cytoskeleton (intermediate filaments)	.	PM2, PP3
M	3	36779306	rs780125616	G	A	222	PASS	DCLK3	Doublecortin-like kinase 3	exonic	NM_033403	.	missense SNV	DCLK3:NM_033403:exon2:c.C845T:p.A282V	ENST00000636136.1,ENSG00000163673.7,ENST00000416516.2	.	3p22.2	.	.	.	.	.	rs780125616	.	.	.	.	.	.	0.00002528	276868	0.00010599	18870	0.00077730	.	.	0.1815	.	0.078,T	0.01,B	0.291,B	1,N	0.005786,N	0.975,L	-0.3,T	2.3874	1.416	1.369	.	3.47	0.0153373456665	VDB=0.173975;SGB=-0.693147;RPB=0.432154;MQB=1.21431e-20;MQSB=0.278352;BQB=0.861605;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=184;DP4=53,26,39,30;MinDP=85;AN=18;AC=1	GT:DP:PL:AD	0/0:85:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:148:255,0,255:79,69	G	A	0	1	Doublecortin-like kinase 3, 613167	.	.	.	16684769	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Normal tissues generally displayed weak to moderate cytoplasmic and nuclear positivity. Ciliated cells in airways and fallopian tube exhibited distinct membranous staining. Cells for example in liver, prostate and spleen were negative.	http://www.proteinatlas.org/ENSG00000163673-DCLK3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 0.5	.	.	BP4, PM2
L	3	39226610	rs75731397	C	T	222	PASS	XIRP1	.	exonic	NM_001351377,NM_194293	.	missense SNV	XIRP1:NM_001351377:exon2:c.G376A:p.G126S,XIRP1:NM_194293:exon2:c.G4327A:p.G1443S	ENST00000421646.1,ENST00000396251.1,ENSG00000168334.8,ENST00000340369.3	.	3p22.2	.	.	.	.	.	rs75731397	.	.	0.0614618	0.0546	0.0411342	0.0213	0.02673850	232960	0.04726397	17434	0.04314030	0.04513274	.	.	.	1.0,T	0.0,B	0.0,B	1,P	0.008296,N	-1.7,N	2.49,T	1.3871	-1.054	-1.065	.	.	.	VDB=0.140554;SGB=-0.693147;RPB=0.999968;MQB=9.08716e-10;MQSB=0.975778;BQB=0.992452;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=290;DP4=67,39,72,31;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:66:.:.	0/1:91:255,0,255:44,47	0/0:100:.:.	0/1:118:255,0,255:62,56	C	T	0	2	.	.	.	.	.	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_HEART_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT	GO_CELL_JUNCTION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Highly selective expression in intercalated discs of heart.	http://www.proteinatlas.org/ENSG00000168334-XIRP1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 5.9	cytoskeleton (actin filaments); nucleus	.	BS1, BS2, BP4, PP2
L	3	39307959	rs550232627	G	A	222	PASS	CX3CR1	Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)	exonic	NM_001171171,NM_001171172,NM_001171174,NM_001337	.	synonymous SNV	CX3CR1:NM_001171171:exon2:c.C42T:p.Y14Y,CX3CR1:NM_001171172:exon2:c.C42T:p.Y14Y,CX3CR1:NM_001171174:exon2:c.C138T:p.Y46Y,CX3CR1:NM_001337:exon2:c.C42T:p.Y14Y	ENST00000542107.5,ENST00000358309.3,ENST00000435290.1,ENST00000412814.1,ENSG00000168329.13,ENST00000399220.2,ENST00000541347.5	.	3p22.2	.	.	.	.	.	rs550232627	.	.	.	.	.	.	0.00003657	246076	0.00011597	17246	0.00019433	0.00088028	.	.	.	.	.	.	.	.	.	.	.	-0.997	-1.741	.	.	.	VDB=0.611208;SGB=-0.692562;RPB=0.578636;MQB=3.57235e-07;MQSB=0.628584;BQB=0.858904;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=26,3,16,6;MinDP=18;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:37:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:47:.:.	0/0:18:.:.	0/0:41:.:.	0/1:51:255,0,255:29,22	G	A	0	1	{Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Rapid progression to AIDS from HIV1 infection}, 609423 (3)	.	.	.	17909628|10731151|23716478|14607932|9390561|12569158|14581400|10702689|12697743|21037587|11264153|20974991|15653504|7590284|11477410|15208270	GO_MEMORY;GO_LEUKOCYTE_ACTIVATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_MYELOID_LEUKOCYTE_MIGRATION;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_MACROPHAGE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_CELL_ACTIVATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_NEUROBLAST_PROLIFERATION;GO_FOREBRAIN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_LEUKOCYTE_CHEMOTAXIS;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_DEFENSE_RESPONSE;GO_FOREBRAIN_CELL_MIGRATION;GO_CELL_MOTILITY;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_SYNAPTIC_PLASTICITY;GO_RESPONSE_TO_BACTERIUM;GO_CHEMOKINE_MEDIATED_SIGNALING_PATHWAY;GO_MYELOID_LEUKOCYTE_ACTIVATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_MACROPHAGE_ACTIVATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_NEUROBLAST_PROLIFERATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_LOCOMOTION;GO_MICROGLIAL_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_CHRONIC_INFLAMMATORY_RESPONSE;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_HEAD_DEVELOPMENT;GO_MACROPHAGE_CHEMOTAXIS;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_RESPONSE_TO_GROWTH_FACTOR;GO_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_LONG_TERM_SYNAPTIC_POTENTIATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MYELOID_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_CEREBRAL_CORTEX_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_TELENCEPHALON_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_CELLULAR_DEFENSE_RESPONSE;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_NEURONAL_CELL_BODY_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CYTOKINE_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_CHEMOKINE_BINDING;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_CHEMOATTRACTANT_RECEPTOR_ACTIVITY;GO_CYTOKINE_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_CHEMOKINE_SIGNALING_PATHWAY	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_CHEMOKINE_RECEPTORS_BIND_CHEMOKINES;REACTOME_GPCR_LIGAND_BINDING	Cytoplasmic expression in a subset of leukocytes	http://www.proteinatlas.org/ENSG00000168329-CX3CR1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 10.2	.	.	BP7, PM2
L	3	40503520	.	ACTGCTGCTGCTG	A	196	PASS	RPL14	Ribosomal protein L14	exonic	NM_001034996,NM_003973	.	nonframeshift deletion	RPL14:NM_001034996:exon6:c.446_457del:p.149_153del,RPL14:NM_003973:exon6:c.446_457del:p.149_153del	ENST00000435633.5,ENST00000416518.1,ENSG00000188846.13,ENST00000479563.5,ENST00000396203.6,ENST00000338970.10,ENST00000481798.1	.	3p22.1	.	.	.	.	Score=288;Name="2982652:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01691949	0.02200704	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415586,6.257	.	.	INDEL;VDB=2.85694e-11;SGB=-0.693147;MQSB=0.820331;MQ0F=0;MQ=48;DP=1102;DP4=1,0,511,365;IDV=132;IMF=0.851613;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:63:0,.	0/0:255,.,.:86:0,.	0/0:255,.,.:108:0,.	0/0:255,.,.:120:0,.	0/0:255,.,.:70:0,.	0/0:255,.,.:104:0,.	0/0:255,.,.:99:1,.	0/0:255,.,.:94:0,.	7/1:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,.,.,255:133:0,57,.,.,.,.,.,76	ACTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTG,ACTGCTG,A	0	1	Ribosomal protein L14, 617414	.	.	.	9480843|11401437|11875025	GO_RIBOSOME_BIOGENESIS;GO_CELLULAR_CATABOLIC_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_TRANSLATIONAL_INITIATION;GO_PROTEIN_TARGETING;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM;GO_RRNA_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_RNA_PROCESSING;GO_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM;GO_PEPTIDE_METABOLIC_PROCESS;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_NCRNA_PROCESSING;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_VIRAL_LIFE_CYCLE;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_MULTI_ORGANISM_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MRNA_METABOLIC_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RNA_CATABOLIC_PROCESS;GO_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS;GO_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_LARGE_RIBOSOMAL_SUBUNIT;GO_RIBOSOME;GO_CYTOSOLIC_PART;GO_CYTOSOLIC_LARGE_RIBOSOMAL_SUBUNIT;GO_RIBOSOMAL_SUBUNIT;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_CYTOSOLIC_RIBOSOME	GO_STRUCTURAL_CONSTITUENT_OF_RIBOSOME;GO_POLY_A_RNA_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_RNA_BINDING	KEGG_RIBOSOME	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000188846-RPL14/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 225.4	cytoplasm	.	.
L	3	42251579	.	G	GAGT	222	PASS	TRAK1	Trafficking protein, kinesin-binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	stopgain	TRAK1:NM_001265609:exon13:c.1843_1844insAGT:p.E615delinsEX,TRAK1:NM_014965:exon13:c.1891_1892insAGT:p.E631delinsEX,TRAK1:NM_001265608:exon14:c.2065_2066insAGT:p.E689delinsEX	ENST00000341421.7,ENST00000327628.9,ENST00000613405.4,ENST00000487159.5,ENST00000396175.5,ENSG00000182606.14	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00022321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.953252;SGB=-0.693097;MQSB=0.738337;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=310;DP4=47,31,76,28;IDV=2;IMF=0.0134228;MinDP=31;AN=16;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:53:.:.	0/0:50:.:.	0/0:60:.:.	0/0:31:.:.	0/0:66:202,.,.:36,.	./.:.:.:.	0/0:50:.:.	0/2:116:255,.,.,0,.,255:42,.,74	G	GTGGAGT,GAGT	0	1	Trafficking protein, kinesin-binding 1, 608112	.	.	.	12034717|15644324|16380713|12435728|10470851|12495622	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_GLYCOSYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_MITOCHONDRION;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_GABA_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining. Additional nuclear positivity was for example observed in glial cells and hepatocytes.	http://www.proteinatlas.org/ENSG00000182606-TRAK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 40.2	.	.	PM2
L	3	42251580	.	A	AGGT	223	PASS	TRAK1	Trafficking protein, kinesin-binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGT:p.E615delinsEV,TRAK1:NM_014965:exon13:c.1892_1893insGGT:p.E631delinsEV,TRAK1:NM_001265608:exon14:c.2066_2067insGGT:p.E689delinsEV	ENST00000327628.9,ENST00000341421.7,ENSG00000182606.14,ENST00000613405.4,ENST00000487159.5,ENST00000396175.5	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00252623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.890109;SGB=-0.693147;MQSB=0.921599;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=1225;DP4=188,103,399,204;IDV=7;IMF=0.039548;MinDP=32;AN=18;AC=4	GT:PL:DP:AD	0/0:255,.,.:101:36,.	2/3:255,.,.,56,.,255,178,.,.,255:128:39,.,38,51	0/0:255,.,.:126:30,.	0/3:255,.,.,.,.,.,0,.,.,255:141:52,.,.,89	0/0:255,.,.:54:17,.	0/0:.:32:.	0/0:255,.,.:106:34,.	0/3:255,.,.,.,.,.,0,.,.,255:115:42,.,.,44	0/3:255,.,.,.,.,.,0,.,.,255:123:41,.,.,82	A	AGGAGGC,AGGAGGT,AGGT	0	4	Trafficking protein, kinesin-binding 1, 608112	.	.	.	12034717|15644324|16380713|12435728|10470851|12495622	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_GLYCOSYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_MITOCHONDRION;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_GABA_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining. Additional nuclear positivity was for example observed in glial cells and hepatocytes.	http://www.proteinatlas.org/ENSG00000182606-TRAK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 40.2	.	.	BP3, PM2
L	3	42251583	.	A	AGGT	222	PASS	TRAK1	Trafficking protein, kinesin-binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1847_1848insGGT:p.E616delinsEV,TRAK1:NM_014965:exon13:c.1895_1896insGGT:p.E632delinsEV,TRAK1:NM_001265608:exon14:c.2069_2070insGGT:p.E690delinsEV	ENSG00000182606.14,ENST00000487159.5,ENST00000396175.5,ENST00000613405.4,ENST00000327628.9,ENST00000341421.7	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00194326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.830097;SGB=-0.693147;MQSB=0.925406;MQ0F=0;MQ=47;ICB=1;HOB=0.5;DP=1008;DP4=145,74,308,150;IDV=4;IMF=0.0258065;MinDP=32;AN=16;AC=3	GT:DP:PL:AD	0/0:43:.:.	0/0:121:255,.,.:34,.	0/0:128:255,.,.:33,.	0/4:143:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255:53,.,.,.,90	0/0:57:255,.,.:22,.	0/0:32:.:.	0/4:101:244,.,.,.,.,.,.,.,.,.,0,.,.,.,255:36,.,.,.,36	./.:.:.:.	0/4:127:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255:41,.,.,.,86	A	AGGAGGC,AGGC,AGGAGGT,AGGT	0	3	Trafficking protein, kinesin-binding 1, 608112	.	.	.	12034717|15644324|16380713|12435728|10470851|12495622	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_GLYCOSYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_MITOCHONDRION;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_GABA_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining. Additional nuclear positivity was for example observed in glial cells and hepatocytes.	http://www.proteinatlas.org/ENSG00000182606-TRAK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 40.2	.	.	BP3, PM2
L	3	42251586	.	A	AGGT	222	PASS	TRAK1	Trafficking protein, kinesin-binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1850_1851insGGT:p.E617delinsEV,TRAK1:NM_014965:exon13:c.1898_1899insGGT:p.E633delinsEV,TRAK1:NM_001265608:exon14:c.2072_2073insGGT:p.E691delinsEV	ENST00000327628.9,ENST00000341421.7,ENSG00000182606.14,ENST00000396175.5,ENST00000487159.5,ENST00000613405.4	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00291489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.563009;SGB=-0.693147;MQSB=0.972101;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=1294;DP4=179,95,383,188;IDV=7;IMF=0.0402685;MinDP=39;AN=18;AC=3	GT:PL:DP:AD	0/0:255,.,.:94:31,.	0/0:255,.,.:120:36,.	0/0:255,.,.:87:36,.	0/3:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.:137:48,.,.,89,.	0/0:255,.,.:57:22,.	4/3:255,.,.,.,.,.,231,.,.,255,51,.,.,.,253:111:23,.,.,48,40	0/0:255,.,.:113:38,.	0/0:.:39:.	0/3:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.:126:40,.,.,86,.	A	AGGAGGT,AGGC,AGGT,AGGAGGC	0	3	Trafficking protein, kinesin-binding 1, 608112	.	.	.	12034717|15644324|16380713|12435728|10470851|12495622	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_GLYCOSYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_MITOCHONDRION;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_GABA_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining. Additional nuclear positivity was for example observed in glial cells and hepatocytes.	http://www.proteinatlas.org/ENSG00000182606-TRAK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 40.2	.	.	BP3, PM2
L	3	42251592	.	A	AGGT	223	PASS	TRAK1	Trafficking protein, kinesin-binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1856_1857insGGT:p.E619delinsEV,TRAK1:NM_014965:exon13:c.1904_1905insGGT:p.E635delinsEV,TRAK1:NM_001265608:exon14:c.2078_2079insGGT:p.E693delinsEV	ENSG00000182606.14,ENST00000396175.5,ENST00000487159.5,ENST00000613405.4,ENST00000327628.9,ENST00000341421.7	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00136028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.667047;SGB=-0.693147;MQSB=0.981799;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=338;DP4=58,21,101,63;IDV=5;IMF=0.0287356;MinDP=22;AN=16;AC=1	GT:DP:PL:AD	0/0:38:.:.	0/0:44:.:.	0/0:40:.:.	0/0:51:.:.	0/0:22:.:.	0/0:34:.:.	./.:.:.:.	0/0:115:255,.,.:38,.	0/2:128:255,.,.,0,.,255:41,.,87	A	AGGTGGT,AGGT	0	1	Trafficking protein, kinesin-binding 1, 608112	.	.	.	12034717|15644324|16380713|12435728|10470851|12495622	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_GLYCOSYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_MITOCHONDRION;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_GABA_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining. Additional nuclear positivity was for example observed in glial cells and hepatocytes.	http://www.proteinatlas.org/ENSG00000182606-TRAK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 40.2	.	.	BP3, PM2
H	3	44816862	rs199683472	G	A	222	PASS	KIF15	Kinesin family, member 15	exonic	NM_020242	.	missense SNV	KIF15:NM_020242:exon3:c.G179A:p.R60Q	ENSG00000163808.16,ENST00000438321.5,ENST00000481166.6,ENST00000326047.8	.	3p21.31	.	.	.	.	.	rs199683472	.	.	0	0.003	0.000599042	7.7e-05	0.00045098	277172	0.00588422	18864	0.00602410	0.01144366	.	-0.1547	Kinesin motor domain;P-loop containing nucleoside triphosphate hydrolase	0.047,D	0.97,D	0.999,D	1,D	0.000232,D	0.48,N	-0.65,T	20.0401	2.805	7.796	6.672045,32	5.63	0.0491231936011	VDB=0.0643637;SGB=-0.692717;RPB=0.338874;MQB=5.74835e-06;MQSB=0.446729;BQB=0.748114;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=59;DP4=12,6,13,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:44:.:.	0/1:41:255,0,255:18,23	G	A	0	1	Kinesin family, member 15, 617569	.	.	.	24659801|24419385|27091450|10878014|19818618	GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_MICROTUBULE_BASED_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_CELL_PROLIFERATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELL_CYCLE;GO_RETROGRADE_VESICLE_MEDIATED_TRANSPORT_GOLGI_TO_ER;GO_MICROTUBULE_BASED_MOVEMENT;GO_GOLGI_VESICLE_TRANSPORT;GO_CELL_CYCLE_PROCESS	GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	BIOCARTA_RANMS_PATHWAY	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_KINESINS;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic and nuclear expression in many tissues.	http://www.proteinatlas.org/ENSG00000163808-KIF15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 5.4	.	.	PM1, PP3
L*	3	45760984	rs139045746	T	C	55	PASS	SACM1L	SAC1 suppressor of actin mutations 1-like	splicing	NM_001319072,NM_001319073,NM_014016	NM_001319072:exon7:c.395-8T>C;NM_001319073:exon9:c.269-8T>C;NM_014016:exon8:c.578-8T>C	.	.	ENST00000463659.1,ENST00000455997.5,ENST00000389061.9,ENST00000418611.5,ENST00000441228.5,ENSG00000211456.10	.	3p21.31	.	.	.	.	.	rs139045746	.	.	0.0415282	0.0496	0.0173722	7.7e-05	0.00617447	257674	0.04871334	17798	0.04434072	0.05417407	0.0118,0.106	-0.8242	.	.	.	.	.	.	.	.	.	0.414	0.923	.	.	.	VDB=0.598008;SGB=-0.556411;RPB=0.643095;MQB=0.0401934;MQSB=1;BQB=0.803868;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=15;DP4=6,1,4,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/1:11:88,0,178:7,4	T	C	0	1	SAC1 suppressor of actin mutations 1-like, 606569	.	.	.	11352561|11214970	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_DEPHOSPHORYLATION	GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_INTRINSIC_COMPONENT_OF_ENDOPLASMIC_RETICULUM_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AMPA_GLUTAMATE_RECEPTOR_COMPLEX;GO_IONOTROPIC_GLUTAMATE_RECEPTOR_COMPLEX;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_RECEPTOR_COMPLEX;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_MONOPHOSPHATE_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	Most of the normal tissues displayed moderate to strong cytoplasmic and membranous positivity. Cell in glomeruli, spleen, smooth muscle and glandular cells of cervix were mainly negative.	http://www.proteinatlas.org/ENSG00000211456-SACM1L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 37.3	nucleus but not nucleoli; golgi apparatus	.	BS1
L	3	46759099	.	C	A	222	PASS	PRSS50	Protease, serine, 50	exonic	NM_013270	.	synonymous SNV	PRSS50:NM_013270:exon2:c.G135T:p.G45G	ENST00000315170.12,ENST00000460241.2,ENSG00000283706.1,ENSG00000206549.13	CpG: 51	3p21.31	.	.	.	.	.	.	.	.	.	.	.	.	0.00002057	243040	0.00029148	17154	.	.	.	0.8364	.	.	.	.	.	.	.	.	.	0.394	0.148	1.005720,10.69	.	.	VDB=0.278413;SGB=-0.693054;RPB=0.588307;MQB=0.0367164;MQSB=0.998323;BQB=0.614551;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=64;DP4=7,19,8,20;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:54:255,0,255:26,28	C	A	0	1	Protease, serine, 50, 607950	.	.	.	11782390|10397268	GO_PROTEOLYSIS	GO_ENDOPLASMIC_RETICULUM	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_THREONINE_TYPE_PEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Selective cytoplasmic expression in testis.	http://www.proteinatlas.org/ENSG00000206549-PRSS50/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	thyroid gland: 3.0	.	.	BP7, PM2
L*	3	47887897	rs377122162	C	T	222	PASS	DHX30	DEAH box polypeptide 30	exonic	NM_001330990,NM_014966,NM_138615	.	synonymous SNV	DHX30:NM_138615:exon11:c.C1335T:p.N445N,DHX30:NM_001330990:exon12:c.C1251T:p.N417N,DHX30:NM_014966:exon12:c.C1218T:p.N406N	ENST00000445061.5,ENST00000446256.6,ENST00000395745.6,ENST00000457607.1,ENST00000348968.8,ENST00000619982.4,ENSG00000132153.14	CpG: 23	3p21.31	.	.	.	.	.	rs377122162	.	.	.	.	.	7.7e-05	0.00001630	245458	.	.	.	0.00088496	.	0.0110	.	.	.	.	.	.	.	.	.	0.033	-2.599	1.107281,11.25	.	.	VDB=0.399275;SGB=-0.693147;RPB=0.487317;MQB=1.87934e-28;MQSB=0.995955;BQB=0.991182;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=264;DP4=72,45,58,29;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:204:255,0,255:117,87	C	T	0	1	DEAH box polypeptide 30, 616423	.	.	.	21278163|10048485|16825194|21204022|18022663	GO_RIBOSOME_BIOGENESIS;GO_RIBOSOME_ASSEMBLY;GO_RNA_PROCESSING;GO_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_NUCLEOID;GO_MITOCHONDRIAL_MATRIX;GO_RIBONUCLEOPROTEIN_GRANULE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RNA_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_CHROMATIN_BINDING;GO_DOUBLE_STRANDED_RNA_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	.	.	.	.	General cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000132153-DHX30/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 28.9	cytoplasm; mitochondria	.	BP7, PM2
M	3	48465168	rs148953234	T	C	222	PASS	PLXNB1	.	exonic	NM_001130082,NM_002673	.	missense SNV	PLXNB1:NM_001130082:exon3:c.A853G:p.R285G,PLXNB1:NM_002673:exon3:c.A853G:p.R285G	ENST00000358536.8,ENSG00000164050.12,ENST00000466353.1,ENST00000296440.10,ENST00000449094.5,ENST00000456774.5	.	3p21.31	.	.	Score=765;Name=V$PAX5_01	.	.	rs148953234	.	.	0.0282392	0.0188	0.00379393	7.7e-05	0.00161906	276086	0.02160068	18842	0.02079285	0.01678445	.	0.0769	Sema domain;WD40/YVTN repeat-like-containing domain	0.468,T	0.0,B	0.0,B	1,N	0.162773,N	-1.525,N	4.34,T	2.1967	-0.925	-1.815	.	.	.	VDB=0.87519;SGB=-0.693145;RPB=0.954461;MQB=2.86584e-11;MQSB=0.917062;BQB=0.827789;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=378;DP4=91,71,96,45;MinDP=52;AN=18;AC=3	GT:PL:DP:AD	0/1:255,0,255:88:47,41	0/0:.:100:.	0/0:.:100:.	0/0:.:101:.	0/0:.:52:.	0/0:.:73:.	0/0:.:86:.	0/1:255,0,255:95:48,47	0/1:255,0,255:120:67,53	T	C	0	3	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_BONE_TRABECULA_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_NEURON_PROJECTION_EXTENSION;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ORGAN_MATURATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_TAXIS;GO_ANATOMICAL_STRUCTURE_MATURATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_BONE_DEVELOPMENT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_TRABECULA_MORPHOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_OSTEOBLAST_PROLIFERATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_GROWTH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_OSSIFICATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_CELL_GROWTH;GO_REGULATION_OF_CELL_ADHESION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_AXON_EXTENSION;GO_DEVELOPMENTAL_MATURATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_BONE_MATURATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_SEMAPHORIN_RECEPTOR_COMPLEX;GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_GTPASE_ACTIVATING_PROTEIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_SEMAPHORIN_RECEPTOR_BINDING	KEGG_AXON_GUIDANCE	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_GPCR;REACTOME_AXON_GUIDANCE;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	Most of the normal tissues showed moderate cytoplasmic staining. Strong immunoreactivity was for example observed in respiratory epithelium, glandular cells of the small intestine and hepatocytes. Some tissues including placenta, small intestine and gall bladder displayed additional membranous staining. Pancreatic, stromal and lymphoid cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000164050-PLXNB1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 23.6	.	.	BP4, PM1
L	3	48637964	rs140583334	C	A	222	PASS	UQCRC1	Ubiquinol-cytochrome c reductase core protein I	exonic	NM_003365	.	synonymous SNV	UQCRC1:NM_003365:exon10:c.G1164T:p.V388V	ENST00000471189.5,ENST00000480561.5,ENST00000460105.1,ENSG00000010256.10,ENST00000415995.5,ENST00000203407.5	.	3p21.31	.	.	Score=815;Name=V$SREBP1_02	.	.	rs140583334	.	.	0.051495	0.0347	0.0071885	.	0.00236680	277168	0.03211787	18868	0.03886514	0.02992958	.	-0.3023	.	.	.	.	.	.	.	.	.	1.443	1.631	1.960151,15.96	4.93	.	VDB=0.0689427;SGB=-0.693054;RPB=0.428811;MQB=3.25128e-09;MQSB=0.976707;BQB=0.642491;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=313;DP4=91,30,77,39;MinDP=50;AN=18;AC=3	GT:PL:DP:AD	0/1:255,0,255:62:34,28	0/0:.:100:.	0/0:.:101:.	0/0:.:100:.	0/0:.:50:.	0/0:.:101:.	0/0:.:51:.	0/1:255,0,255:93:42,51	0/1:255,0,255:82:45,37	C	A	0	3	Ubiquinol-cytochrome c reductase core protein I, 191328	.	.	.	8407948	GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_PROTEIN_MATURATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_AEROBIC_RESPIRATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CATION_TRANSPORT;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_RESPIRATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MITOCHONDRIAL_ELECTRON_TRANSPORT_UBIQUINOL_TO_CYTOCHROME_C;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_ALKALOID;GO_OXIDATIVE_PHOSPHORYLATION;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_ELECTRON_TRANSPORT_CHAIN;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_HYDROGEN_TRANSPORT;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PHOSPHORYLATION;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_PROTEOLYSIS;GO_HYDROGEN_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_ACTIVITY	GO_CYTOCHROME_COMPLEX;GO_OXIDOREDUCTASE_COMPLEX;GO_ORGANELLE_INNER_MEMBRANE;GO_MYELIN_SHEATH;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_RESPIRATORY_CHAIN;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MITOCHONDRIAL_PROTEIN_COMPLEX	GO_PEPTIDASE_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	BIOCARTA_ETC_PATHWAY	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	Ubiquitous granular cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000010256-UQCRC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 76.1	mitochondria; cytoplasm	.	BS1, PP3
L	3	49725325	rs147651287	G	A	222	PASS	MST1	Macrophage-stimulating-1 (hepatocyte growth factor-like)	exonic	NM_020998	.	missense SNV	MST1:NM_020998:exon2:c.C100T:p.R34C	ENST00000484673.5,ENSG00000173531.15,ENST00000481055.2,ENST00000449682.2,ENST00000490966.1,ENST00000494828.6,ENST00000488350.6,ENST00000491943.1,ENST00000492370.5	.	3p21.31	.	.	.	Score=0.975118;Name=chr1:17083685	.	rs147651287	.	.	0	0.001	0.000199681	0.0002	0.00012338	275576	0.00169905	18834	0.00027747	0.00088028	.	-3.6488	Apple-like	0.0,D	0.998,D	1.0,D	1,D	0.001738,N	2.455,M	-0.21,T	13.3722	2.533	2.915	6.959195,33	4.09	0.169625882425	VDB=0.000181681;SGB=-0.693147;RPB=0.888249;MQB=6.31939e-28;MQSB=0.420667;BQB=0.354335;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=245;DP4=42,39,45,64;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/1:190:255,0,255:81,109	G	A	0	1	Macrophage-stimulating-1 (hepatocyte growth factor-like), 142408	.	.	.	9486989|1354648|1655021|9045873|8393443	GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_GLUCONEOGENESIS;GO_REGULATION_OF_CAMP_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_GLUCONEOGENESIS;GO_PROTEOLYSIS	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_KINASE_BINDING;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENZYME_BINDING;GO_PROTEIN_TYROSINE_KINASE_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_RECEPTOR_BINDING	.	PID_FOXO_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	.	Most of the normal cells showed weak to moderate cytoplasmic positivity with additional membranous and nuclear staining in some cases. Red blood cells were distinctly stained. Pancreas, glial cells and lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000173531-MST1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 97.7	.	.	PM1, PM2, PP3
H	3	52238831	rs749744738	G	A	222	PASS	ALAS1	Aminolevulinate, delta-, synthase-1	exonic	NM_000688,NM_001304443,NM_001304444,NM_199166	.	missense SNV	ALAS1:NM_001304443:exon5:c.G700A:p.D234N,ALAS1:NM_199166:exon5:c.G700A:p.D234N,ALAS1:NM_000688:exon6:c.G700A:p.D234N,ALAS1:NM_001304444:exon6:c.G751A:p.D251N	ENST00000469224.5,ENST00000484952.5,ENST00000310271.6,ENST00000394965.6,ENSG00000023330.14	.	3p21.2	.	.	.	.	.	rs749744738	.	.	.	.	.	.	0.00003655	246226	0.00046382	17248	0.00310921	0.00088028	.	-0.1896	Pyridoxal phosphate-dependent transferase;Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase	0.096,T	0.039,B	0.021,B	1,D	0.000000,D	2.31,M	-4.61,D	19.9856	2.724	5.769	4.032468,23.7	5.77	0.049560395034	VDB=0.417474;SGB=-0.693097;RPB=0.646327;MQB=7.55188e-07;MQSB=0.952438;BQB=0.582546;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=80;DP4=28,7,21,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:47:.:.	0/0:50:.:.	0/1:65:255,0,255:35,30	G	A	0	1	Aminolevulinate, delta-, synthase-1, 125290	.	.	.	3671094|2347585|7698013|15269772|3414687	GO_HEME_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_TETRAPYRROLE_BIOSYNTHETIC_PROCESS;GO_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PIGMENT_BIOSYNTHETIC_PROCESS;GO_TETRAPYRROLE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_HEME_BIOSYNTHETIC_PROCESS;GO_COFACTOR_BIOSYNTHETIC_PROCESS;GO_PIGMENT_METABOLIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_PYRIDOXAL_PHOSPHATE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_N_ACYLTRANSFERASE_ACTIVITY;GO_COFACTOR_BINDING	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM;KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM	PID_HNF3B_PATHWAY	BIOCARTA_AHSP_PATHWAY	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_METABOLISM_OF_PORPHYRINS	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000023330-ALAS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 475.2	mitochondria; nucleus	.	PM1, PM2
L	3	52280002	.	C	T	201	PASS	PPM1M	Protein phosphatase 1M (protein phosphatase 2C, eta isoform)	exonic	NM_144641	.	synonymous SNV	PPM1M:NM_144641:exon1:c.C162T:p.D54D	ENST00000323588.8,ENST00000457454.5,ENST00000467471.5,ENSG00000164088.17	CpG: 61	3p21.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00003316	90458	0.00043422	4606	0.00311042	0.00088183	.	.	.	.	.	.	0.845084,N	.	.	.	0.6845	-0.152	-1.158	1.565159,13.66	.	.	VDB=0.215518;SGB=-0.691153;RPB=0.995452;MQB=9.64242e-07;MQSB=0.931685;BQB=0.396277;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=60;DP4=23,3,15,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/1:44:234,0,255:26,18	C	T	0	1	Protein phosphatase 1M (protein phosphatase 2C, eta isoform), 608979	.	.	.	14654243	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION	.	GO_MANGANESE_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING	.	.	.	.	Normal tissues showed weak to moderate cytoplasmic staining. Gastric glands, cardiac myocytes and parathyroid displayed strong positivity. Liver, renal glomeruli, cells of CNS and lymphoid tissues were generally negative.	http://www.proteinatlas.org/ENSG00000164088-PPM1M/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 27.1	nucleus	.	BP7, PM2
L	3	52281046	rs150283611	C	T	222	PASS	PPM1M	Protein phosphatase 1M (protein phosphatase 2C, eta isoform)	exonic	NM_144641	.	synonymous SNV	PPM1M:NM_144641:exon3:c.C399T:p.A133A	ENST00000323588.8,ENST00000489606.5,ENST00000296487.8,ENST00000457454.5,ENST00000467471.5,ENSG00000164088.17,ENST00000409502.7	.	3p21.2	.	.	.	.	.	rs150283611	.	.	0.00996678	0.0079	0.00179712	.	0.00052471	181054	0.00718343	11972	0.00311042	0.00528169	.	1.9413	.	.	.	.	.	.	.	.	.	0.155	0.137	2.762316,21.2	.	.	VDB=0.444136;SGB=-0.693144;RPB=0.737937;MQB=1.24967e-08;MQSB=0.859478;BQB=0.87476;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=78;DP4=14,9,27,12;MinDP=17;AN=18;AC=1	GT:DP:PL:AD	0/0:17:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:33:.:.	0/0:30:.:.	0/0:40:.:.	0/1:62:255,0,255:23,39	C	T	0	1	Protein phosphatase 1M (protein phosphatase 2C, eta isoform), 608979	.	.	.	14654243	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION	.	GO_MANGANESE_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING	.	.	.	.	Normal tissues showed weak to moderate cytoplasmic staining. Gastric glands, cardiac myocytes and parathyroid displayed strong positivity. Liver, renal glomeruli, cells of CNS and lymphoid tissues were generally negative.	http://www.proteinatlas.org/ENSG00000164088-PPM1M/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 27.1	nucleus	.	BP7
H	3	52552761	rs773578752	C	T	222	PASS	STAB1	.	exonic	NM_015136	.	missense SNV	STAB1:NM_015136:exon48:c.C4910T:p.A1637V	ENSG00000010327.10,ENST00000461325.1,ENST00000321725.10	CpG: 46	3p21.1	.	.	.	.	.	rs773578752	.	.	.	.	.	.	0.00002860	244738	0.00034892	17196	0.00310921	0.00139276	.	0.1120	FAS1 domain	0.085,T	0.01,B	0.004,B	1,N	0.048003,N	1.995,M	-2.98,D	5.083	1.223	0.975	1.429946,12.94	2.47	0.0457347435085	VDB=0.0103045;SGB=-0.693147;RPB=0.874013;MQB=1.35925e-22;MQSB=0.927846;BQB=0.928709;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=209;DP4=36,39,43,44;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:162:255,0,255:75,87	C	T	0	1	.	.	.	.	.	GO_CELL_CELL_SIGNALING;GO_VESICLE_MEDIATED_TRANSPORT;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_INFLAMMATORY_RESPONSE;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_BIOLOGICAL_ADHESION;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_VESICLE_MEMBRANE;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART	GO_PROTEIN_LIPID_COMPLEX_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_BINDING;GO_CALCIUM_ION_BINDING;GO_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEIN_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_HYALURONIC_ACID_BINDING;GO_RECEPTOR_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000010327-STAB1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 74.3	.	.	PM1, PM2
H	3	52557230	rs199577237	C	T	222	PASS	STAB1	.	splicing	NM_015136	NM_015136:exon64:c.7021-8C>T	.	.	ENSG00000010327.10,ENST00000481626.5,ENST00000462741.5,ENST00000462681.1,ENST00000321725.10	.	3p21.1	.	.	.	.	.	rs199577237	.	.	0	0.001	0.000199681	.	0.00014819	276674	0.00074208	18866	0.00019433	.	0,0	-0.9634	.	.	.	.	.	.	.	.	.	0.041	-0.484	.	.	.	VDB=0.58994;SGB=-0.693147;RPB=0.973277;MQB=9.0433e-16;MQSB=0.684495;BQB=0.867208;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=152;DP4=46,17,50,10;MinDP=75;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:75:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:123:255,0,255:63,60	C	T	0	1	.	.	.	.	.	GO_CELL_CELL_SIGNALING;GO_VESICLE_MEDIATED_TRANSPORT;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_INFLAMMATORY_RESPONSE;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_BIOLOGICAL_ADHESION;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_VESICLE_MEMBRANE;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART	GO_PROTEIN_LIPID_COMPLEX_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_BINDING;GO_CALCIUM_ION_BINDING;GO_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEIN_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_HYALURONIC_ACID_BINDING;GO_RECEPTOR_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000010327-STAB1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 74.3	.	.	PM2
H	3	52939210	rs146543428	T	C	222	PASS	SFMBT1	SCM-like protein with 4 MBT domains 1	exonic	NM_016329	.	missense SNV	SFMBT1:NM_016329:exon21:c.A2543G:p.K848R	ENSG00000163935.13,ENST00000394752.7	.	3p21.1	.	.	.	.	.	rs146543428	.	.	0.00830565	0.0099	0.00199681	.	0.00102146	277054	0.01484624	18860	0.01107656	0.00880282	.	.	Sterile alpha motif domain;Sterile alpha motif, type 1;Sterile alpha motif/pointed domain	0.0,D	0.394,B	0.884,P	0.999998,D	0.000000,D	2.565,M	0.31,T	11.0377	2.367	6.294	5.318723,25.8	6.16	.	VDB=0.0281158;SGB=-0.692717;RPB=0.2627;MQB=5.52721e-08;MQSB=0.660157;BQB=0.923471;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=192;DP4=56,23,43,24;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/1:50:255,0,255:27,23	0/0:31:.:.	0/0:50:.:.	0/1:44:255,0,255:23,21	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:52:255,0,255:29,23	T	C	0	3	SCM-like protein with 4 MBT domains 1, 607319	.	.	.	10661410|17599839	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_CHROMATIN_MODIFICATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_CHROMATIN_ORGANIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS	.	GO_HISTONE_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	Cytoplasmic expression in a majority of tissues, most abundant in gastroinstinal tract and testis.	http://www.proteinatlas.org/ENSG00000163935-SFMBT1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 6.6	nucleus but not nucleoli	.	PM1
L	3	53326216	rs782457634	A	C	222	PASS	DCP1A	Decapping enzyme 1, X. cerevisiae, homolog of, A	exonic	NM_001290204,NM_001290205,NM_001290206,NM_001290207,NM_018403	.	synonymous SNV	DCP1A:NM_001290207:exon5:c.T789G:p.S263S,DCP1A:NM_001290204:exon6:c.T1152G:p.S384S,DCP1A:NM_001290206:exon6:c.T903G:p.S301S,DCP1A:NM_018403:exon7:c.T1266G:p.S422S,DCP1A:NM_001290205:exon8:c.T1050G:p.S350S	ENST00000294241.10,ENST00000610213.5,ENSG00000272886.5	.	3p21.1	.	.	Score=867;Name=V$TAL1ALPHAE47_01	.	.	rs782457634	.	.	.	.	.	.	0.00001219	246196	0.00017393	17248	0.00058298	.	.	0.0632	.	.	.	.	.	.	.	.	.	-0.611	-0.052	.	.	.	VDB=0.922004;SGB=-0.693147;RPB=0.816992;MQB=3.86853e-17;MQSB=0.939983;BQB=0.898106;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=181;DP4=54,19,49,13;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:135:255,0,255:73,62	A	C	0	1	Decapping enzyme 1, X. cerevisiae, homolog of, A, 607010	.	.	.	11836524|16364915|12417715	GO_REGULATION_OF_RNA_STABILITY;GO_CELLULAR_CATABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_DEADENYLATION_DEPENDENT_DECAY;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MRNA_METABOLIC_PROCESS;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RNA_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_EXONUCLEOLYTIC	GO_CYTOPLASMIC_MRNA_PROCESSING_BODY;GO_RIBONUCLEOPROTEIN_GRANULE;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_MRNA_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_IDENTICAL_PROTEIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	KEGG_RNA_DEGRADATION	PID_SMAD2_3NUCLEAR_PATHWAY	.	REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE;REACTOME_METABOLISM_OF_MRNA;REACTOME_DEADENYLATION_DEPENDENT_MRNA_DECAY;REACTOME_METABOLISM_OF_RNA;REACTOME_DESTABILIZATION_OF_MRNA_BY_BRF1;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_TRISTETRAPROLIN_TTP	.	http://www.proteinatlas.org/ENSG00000272886-DCP1A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 15.7	vesicles	.	BP7, PM2
H	3	57448435	rs78172374	T	C	191	PASS	DNAH12	Dynein, heavy chain-5	exonic	NM_001291661	.	unknown	UNKNOWN	ENST00000495027.5,ENST00000351747.6,ENSG00000174844.14	.	3p14.3	.	.	.	.	.	rs78172374	.	.	0.00830565	0.0099	0.00219649	0.0002	0.00061431	179064	0.00691750	11854	0.00699572	0.01144366	.	2.6241	Dynein heavy chain, domain-2	0.001,D	0.999,D	1.0,D	0.995528,N	.	3.81,H	-0.49,T	8.4549	2.288	1.405	5.181458,25.5	4.78	0.375922964856	VDB=0.275752;SGB=-0.683931;RPB=0.318392;MQB=0.000348281;MQSB=1;BQB=0.680712;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=31;DP4=13,3,10,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:29:.:.	0/0:10:.:.	0/1:29:224,0,230:16,13	T	C	0	1	Dynein, heavy chain-5, 603340	.	.	.	9256245|9373155|15937072|8666668|8812413	GO_MICROTUBULE_BASED_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MICROTUBULE_BASED_MOVEMENT	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_DYNEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CILIUM	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Selective expression in cilia in fallopian tube, respiratory tract and a subset of glandular cells in uterus.	http://www.proteinatlas.org/ENSG00000174844-DNAH12/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	cerebral cortex: 0.2	.	.	PM1
H*	3	58134099	rs143066905	A	G	154	PASS	FLNB	Filamin B	splicing	NM_001164317,NM_001164318,NM_001164319,NM_001457	NM_001164317:exon36:c.5980+8A>G;NM_001164318:exon35:c.5854+8A>G;NM_001164319:exon34:c.5815+8A>G;NM_001457:exon35:c.5887+8A>G	.	.	ENST00000295956.8,ENSG00000136068.14,ENST00000493452.5,ENST00000481470.5,ENST00000358537.7,ENST00000490882.5,ENST00000429972.6	.	3p14.3	.	.	.	.	.	rs143066905	.	.	0.00830565	0.0099	0.00199681	.	0.00065018	272232	0.00764788	18698	0.00602410	0.00616197	0.0001,0	0.9435	.	.	.	.	.	.	.	.	.	-2.674	-1.438	.	.	.	VDB=0.0965276;SGB=-0.683931;RPB=0.999527;MQB=9.9295e-06;MQSB=0.454809;BQB=0.83527;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=44;DP4=9,16,2,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:51:.:.	0/0:53:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:38:187,0,255:25,13	A	G	0	1	Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Larsen syndrome, 150250 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive	.	.	.	16801345|15994868|15054484|10449914|18386804|11153914|16752402|17635842|24760772|24624349|14991055|8327473|18257094|12393796|9651345|12955767|9694715|9437013|17360453	GO_EPITHELIUM_DEVELOPMENT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_MAINTENANCE_OF_LOCATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_EPIDERMIS_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	GO_I_BAND;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_ACTIN_FILAMENT_BUNDLE;GO_ACTOMYOSIN;GO_BRUSH_BORDER;GO_CELL_JUNCTION;GO_CONTRACTILE_FIBER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION;GO_CELL_CORTEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Ubiquitous cytoplasmic expression in essentially all cells except in lymphoid cells, CNS and stroma cells.	http://www.proteinatlas.org/ENSG00000136068-FLNB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	colon: 84.2	plasma membrane; cytoplasm; golgi apparatus; cytoskeleton (actin filaments)	.	.
H	3	58419529	rs536872599	G	A	222	PASS	PDHB	Pyruvate dehydrogenase, E1 beta polypeptide	exonic	NM_000925,NM_001173468,NM_001315536	.	missense SNV	PDHB:NM_000925:exon1:c.C8T:p.A3V,PDHB:NM_001173468:exon1:c.C8T:p.A3V,PDHB:NM_001315536:exon1:c.C8T:p.A3V	ENST00000469827.1,ENSG00000168291.12,ENST00000482894.5,ENST00000485460.5,ENST00000461692.5,ENST00000302746.10,ENST00000469364.5,ENST00000480626.5,ENST00000383714.8,ENST00000474765.1,ENST00000479945.1	CpG: 67	3p14.3	.	.	Score=881;Name=V$YY1_02	.	.	rs536872599	Likely benign;not_specified;RCV000196375.1;MedGen;CN169374	.	0.00166113	0.003	0.000599042	.	0.00014941	267716	0.00215123	18594	0.00174893	.	.	.	.	0.078,T	0.001,B	0.002,B	0.999831,N	0.014307,N	0,N	-4.02,D	4.6525	-0.134	0.453	2.470925,19.28	.	0.0876074123652	VDB=0.135289;SGB=-0.693146;RPB=0.580176;MQB=1.78938e-12;MQSB=0.949832;BQB=0.99221;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=115;DP4=13,35,13,31;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:52:.:.	0/0:56:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/1:92:255,0,255:48,44	G	A	0	1	Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)	.	.	.	15138885|2829898|3422424|2377599|1967901	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ACETYL_COA_METABOLIC_PROCESS;GO_THIOESTER_METABOLIC_PROCESS;GO_AEROBIC_RESPIRATION;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_RESPIRATION;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_TRICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_REGULATION_OF_ACYL_COA_BIOSYNTHETIC_PROCESS;GO_GLYOXYLATE_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_COENZYME_BIOSYNTHETIC_PROCESS;GO_CELLULAR_ALDEHYDE_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_GLUCOSE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ACETYL_COA_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_COFACTOR_METABOLIC_PROCESS;GO_THIOESTER_BIOSYNTHETIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_HEXOSE_METABOLIC_PROCESS;GO_PYRUVATE_METABOLIC_PROCESS;GO_REGULATION_OF_SULFUR_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_COFACTOR_BIOSYNTHETIC_PROCESS	GO_OXIDOREDUCTASE_COMPLEX;GO_MITOCHONDRIAL_MATRIX;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_CITRATE_CYCLE_TCA_CYCLE;KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_BIOSYNTHESIS;KEGG_PYRUVATE_METABOLISM;KEGG_BUTANOATE_METABOLISM	.	.	REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE;REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_REGULATION_OF_PYRUVATE_DEHYDROGENASE_PDH_COMPLEX;REACTOME_PYRUVATE_METABOLISM	Cytoplasmic expression with a granular pattern in most tissues.	http://www.proteinatlas.org/ENSG00000168291-PDHB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 93.5	mitochondria; nucleus but not nucleoli	.	BP6, PM2
H	3	62388848	rs199626657	T	C	222	PASS	CADPS	Ca(2+)-dependent activator protein for secretion	exonic	NM_003716,NM_183393,NM_183394	.	missense SNV	CADPS:NM_183393:exon26:c.A3553G:p.S1185G,CADPS:NM_183394:exon27:c.A3673G:p.S1225G,CADPS:NM_003716:exon29:c.A3790G:p.S1264G	ENST00000612439.4,ENST00000613879.4,ENST00000357948.7,ENST00000466621.2,ENST00000383710.8,ENSG00000163618.17,ENST00000474560.1,ENST00000283269.13,ENST00000473635.5,ENST00000486172.1	.	3p14.2	.	.	.	.	.	rs199626657	.	.	0.00332226	0.003	0.000599042	.	0.00039393	276696	0.00572884	18852	0.00213758	0.00264550	.	1.5444	.	0.184,T	0.117,B	0.278,B	0.980617,D	0.000027,D	0.955,L	1.48,T	15.8337	2.206	3.663	2.212609,17.59	5.46	0.0090356258162	VDB=0.03354;SGB=-0.692562;RPB=0.280592;MQB=9.20295e-06;MQSB=0.974974;BQB=0.167261;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=62;DP4=19,5,15,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:46:255,0,255:24,22	T	C	0	1	Ca(2+)-dependent activator protein for secretion, 604667	.	.	.	9289490|9697858|12659812|20826818|10574461|1516133	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELL_CELL_SIGNALING;GO_NEUROTRANSMITTER_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_SECRETION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYNAPTIC_SIGNALING;GO_PROTEIN_LOCALIZATION;GO_CATECHOLAMINE_TRANSPORT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_EXOCYTOSIS;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_MONOAMINE_TRANSPORT;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT	GO_VESICLE_MEMBRANE;GO_NEURON_PART;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_CYTOPLASMIC_VESICLE_PART;GO_PRESYNAPSE;GO_SYNAPSE_PART	GO_KINASE_BINDING;GO_ENZYME_BINDING;GO_LIPID_BINDING	.	.	.	.	Cytoplasmix expression in CNS, peripheral nerves in several tissues and endocrine cells in pancreas and gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000163618-CADPS/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	heart muscle: 6.2	nucleus; vesicles	.	.
L	3	63898360	rs781716445	GGCAGCAGCA	G	222	PASS	ATXN7	Ataxin 7	exonic	NM_000333,NM_001177387	.	nonframeshift deletion	ATXN7:NM_001177387:exon2:c.87_95del:p.29_32del,ATXN7:NM_000333:exon3:c.87_95del:p.29_32del	ENST00000295900.10,ENST00000487717.5,ENST00000538065.5,ENSG00000163635.17,ENST00000474112.5	.	3p14.1	.	.	.	.	Score=315;Name="3027305:(CAG)n(Simple_repeat)"	rs781716445	.	.	.	.	.	.	0.01339002	34578	0.01741935	1550	0.04046693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.511729,11.01	.	.	INDEL;VDB=0.0328065;SGB=-0.556411;MQSB=0.939413;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=172;DP4=55,26,41,22;IDV=17;IMF=0.548387;MinDP=10;AN=16;AC=3	GT:PL:DP:AD	0/0:143,.,.:14:10,.	0/2:213,.,.,0,.,255,.,.,.,.:25:18,.,7,.	0/0:255,.,.:28:15,.	0/0:.:10:.	./.:.:.:.	0/2:233,.,.,0,.,255,.,.,.,.:21:11,.,9,.	0/0:.:11:.	0/0:255,.,.:27:15,.	0/2:255,.,.,0,.,255,.,.,.,.:29:12,.,16,.	GGCAGCAGCA	GGCAGCAGCAGCAGCA,G,GGCAGCAGCAGCA	0	3	Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant	.	.	.	15661755|14613968|9288099|12533095|11805826|15115762|12471061|19843541|10441328|11580893|11371513|12490531|11734547|10598805|12052880|12944423|21689595|12039035|11030754|11709544	GO_CHROMOSOME_ORGANIZATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_CYTOSKELETON_ORGANIZATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_HISTONE_DEUBIQUITINATION;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_CHROMATIN_MODIFICATION;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_COVALENT_CHROMATIN_MODIFICATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CHROMATIN_ORGANIZATION;GO_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NUCLEUS_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PROTEOLYSIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_MICROTUBULE_CYTOSKELETON;GO_TRANSFERASE_COMPLEX;GO_CYTOSKELETON;GO_SAGA_TYPE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_STAGA_COMPLEX;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY;GO_NUCLEOLUS;GO_ACETYLTRANSFERASE_COMPLEX	GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	A subset of skeletal myocytes displayed strong cytoplasmic immunoreactivity. Respiratory epithelia, urothelia, breast, placental trophoblasts, Purkinje cells and neuropil of cerebellum showed moderate cytoplasmic or nuclear positivity. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000163635-ATXN7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 15.4	nucleus but not nucleoli; cytoplasm	.	BP3
H	3	71021303	rs76145927	T	C	225	PASS	FOXP1	Forkhead box P1	exonic	NM_001244810	.	missense SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R	ENSG00000114861.18,ENST00000497355.5,ENST00000615603.4,ENST00000475937.5,ENST00000484350.5,ENST00000614183.1,ENST00000491238.5,ENST00000318789.8,ENST00000468577.5,ENST00000614176.4,ENST00000327590.8,ENST00000493089.5,ENST00000498215.5	.	3p13	.	.	Score=966;Name=V$NKX22_01	.	.	rs76145927	Likely benign;not_provided;RCV000433534.1;MedGen;CN221809	.	0.0232558	0.0387	0.0091853	.	0.00551140	156766	0.03584071	11300	0.03186941	0.02640845	.	0.8417	Transcription factor, fork head;Winged helix-turn-helix DNA-binding domain	.	.	.	.	.	.	.	.	2.371	7.800	1.906264,15.63	5.87	.	VDB=0.161504;SGB=-0.693146;MQSB=1;MQ0F=0;MQ=46;DP=60;DP4=0,0,20,22;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	1/1:42:255,126,0:0,42	T	C	1	0	Mental retardation with language impairment and with or without autistic features, 613670 (3), Autosomal dominant	.	.	.	11751404|15709173|20571508|19965654|20950788|16819554|24214399|8265594|18667151|18799727|26647308|25131622|15703784|12692134	GO_LEUKOCYTE_ACTIVATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_CELL_DEVELOPMENT;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_SECRETION_BY_CELL;GO_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_PROTEIN_SECRETION;GO_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_BONE_CELL_DEVELOPMENT;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_SECRETION;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELL_CELL_ADHESION;GO_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HEMOPOIESIS;GO_BONE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_REGULATION_OF_INTERLEUKIN_1_BETA_PRODUCTION;GO_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION;GO_LYMPHOCYTE_ACTIVATION;GO_T_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_MYELOID_LEUKOCYTE_ACTIVATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_MACROPHAGE_ACTIVATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_B_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CYTOKINE_SECRETION;GO_ALPHA_BETA_T_CELL_ACTIVATION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_MONOCYTE_DIFFERENTIATION;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_INTERLEUKIN_1_SECRETION;GO_REGULATION_OF_TRANSPORT;GO_CELL_DEVELOPMENT;GO_OSTEOCLAST_DIFFERENTIATION;GO_LYMPHOCYTE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_B_CELL_APOPTOTIC_PROCESS;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_LYMPHOCYTE_DIFFERENTIATION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_PROTEIN_SELF_ASSOCIATION;GO_HORMONE_RECEPTOR_BINDING;GO_ANDROGEN_RECEPTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_RECEPTOR_BINDING	.	.	.	.	Nuclear expression in most cells.	http://www.proteinatlas.org/ENSG00000114861-FOXP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 29.6	nucleus but not nucleoli	.	BS1, BS2, BP1, BP6, PP3
L*	3	73064059	rs138781140	T	C	173	PASS	PPP4R2	Protein phosphatase 4, regulatory subunit 2	splicing	NM_001318028	NM_001318028:exon3:c.117-7T>C	.	.	ENSG00000163605.14,ENST00000482242.5,ENST00000356692.9,ENST00000470976.1,ENST00000476505.2,ENST00000488810.5,ENST00000495566.1	.	3p13	.	.	.	.	Score=649;Name="3044602:FLAM_C(SINE)"	rs138781140	.	.	0	0.004	0.000798722	.	0.00029700	138048	0.00410509	9744	0.00272056	0.00176056	0.0001,0.036	.	.	.	.	.	.	.	.	.	.	0.378	-0.374	.	.	.	VDB=0.123556;SGB=-0.692067;RPB=0.534225;MQB=0.000461975;MQSB=1;BQB=0.273758;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=64;DP4=22,1,28,1;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/1:34:206,0,189:14,20	0/0:10:.:.	0/0:11:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:18:130,0,189:9,9	T	C	0	2	Protein phosphatase 4, regulatory subunit 2, 613822	.	.	.	16085932|10769191|20154705	GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR;GO_REGULATION_OF_DNA_RECOMBINATION;GO_MRNA_PROCESSING;GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION;GO_REGULATION_OF_DNA_REPAIR;GO_RNA_PROCESSING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_SPLICING;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS	GO_MICROTUBULE_CYTOSKELETON;GO_PHOSPHATASE_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_BINDING_BRIDGING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_PHOSPHATASE_REGULATOR_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000163605-PPP4R2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 45.9	nucleus but not nucleoli	.	PM2
L*	3	73114254	rs754988583	CAGAAGAGGATGA	C	222	PASS	PPP4R2	Protein phosphatase 4, regulatory subunit 2	exonic	NM_001318025,NM_001318026,NM_001318027,NM_174907	.	nonframeshift deletion	PPP4R2:NM_001318025:exon7:c.720_731del:p.240_244del,PPP4R2:NM_001318027:exon7:c.378_389del:p.126_130del,PPP4R2:NM_001318026:exon8:c.777_788del:p.259_263del,PPP4R2:NM_174907:exon8:c.891_902del:p.297_301del	ENST00000356692.9,ENSG00000163605.14,ENST00000460360.1	.	3p13	.	.	.	Score=0.94987;Name=chr5:1615580	Score=213;Name="3044723:(GAA)n(Simple_repeat)"	rs754988583	.	.	.	.	.	.	0.00125003	275994	0.01657606	18762	0.01612903	0.02376761	.	.	.	.	.	.	.	.	.	.	.	.	.	2.483557,14.26	.	.	INDEL;VDB=0.0305201;SGB=-0.691153;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=53;DP4=6,24,4,14;IDV=17;IMF=0.320755;MinDP=10;AN=16;AC=1	GT:DP:PL:AD	./.:.:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:48:255,0,255:30,18	CAGAAGAGGATGA	C	0	1	Protein phosphatase 4, regulatory subunit 2, 613822	.	.	.	16085932|10769191|20154705	GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR;GO_REGULATION_OF_DNA_RECOMBINATION;GO_MRNA_PROCESSING;GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION;GO_REGULATION_OF_DNA_REPAIR;GO_RNA_PROCESSING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_SPLICING;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS	GO_MICROTUBULE_CYTOSKELETON;GO_PHOSPHATASE_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_BINDING_BRIDGING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_PHOSPHATASE_REGULATOR_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000163605-PPP4R2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 45.9	nucleus but not nucleoli	.	.
H	3	97593319	.	A	G	222	PASS	CRYBG3	.	exonic	NM_153605	.	missense SNV	CRYBG3:NM_153605:exon4:c.A3281G:p.H1094R	ENSG00000279658.1,ENST00000389622.6,ENST00000624061.1,ENSG00000080200.9	.	3q11.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000786	127302	0.00010130	9872	.	.	.	.	.	0.398,T	0.007,B	0.004,B	.	.	.	.	7.4791	-0.466	-0.936	.	.	.	VDB=0.283118;SGB=-0.693097;RPB=0.284459;MQB=4.02981e-09;MQSB=0.202334;BQB=0.181026;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=91;DP4=17,18,22,8;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:65:255,0,255:35,30	A	G	0	1	.	.	.	.	.	.	.	GO_CARBOHYDRATE_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000080200-CRYBG3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 20.4	nucleus but not nucleoli; cytoplasm	.	BP4, PM2
L-	3	113304085	.	A	T	222	PASS	SIDT1	.	exonic	NM_001308350,NM_001322294,NM_001322295,NM_001322296,NM_001322297,NM_001322298,NM_001322299,NM_017699	.	synonymous SNV	SIDT1:NM_001322296:exon7:c.A783T:p.G261G,SIDT1:NM_001322295:exon8:c.A885T:p.G295G,SIDT1:NM_001322297:exon8:c.A516T:p.G172G,SIDT1:NM_001322298:exon8:c.A426T:p.G142G,SIDT1:NM_001308350:exon9:c.A969T:p.G323G,SIDT1:NM_001322294:exon9:c.A969T:p.G323G,SIDT1:NM_001322299:exon9:c.A228T:p.G76G,SIDT1:NM_017699:exon9:c.A969T:p.G323G	ENST00000393830.4,ENSG00000072858.10,ENST00000264852.8,ENST00000488390.1	.	3q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00038865	.	.	-3.8235	.	.	.	.	.	.	.	.	.	0.097	0.013	.	.	.	VDB=0.73345;SGB=-0.692562;RPB=0.235444;MQB=5.85545e-07;MQSB=0.320984;BQB=0.967982;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=64;DP4=10,11,17,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:43:255,0,255:21,22	A	T	0	1	.	.	.	.	.	GO_NITROGEN_COMPOUND_TRANSPORT;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_RNA_LOCALIZATION	.	GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MACROMOLECULE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic immunoreactivity. Normal prostate showed strong cytoplasmic staining accentuated toward the luminal membrane.	http://www.proteinatlas.org/ENSG00000072858-SIDT1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	rectum: 8.0	.	.	BP7, PM2
H-	3	118623543	.	C	T	168	PASS	IGSF11	.	exonic	NM_001015887,NM_152538	.	missense SNV	IGSF11:NM_001015887:exon6:c.G806A:p.R269K,IGSF11:NM_152538:exon8:c.G803A:p.R268K	ENST00000491903.1,ENSG00000144847.12,ENST00000425327.6,ENST00000489689.5,ENST00000441144.6,ENST00000354673.6,ENST00000393775.6	.	3q13.32	.	.	.	.	.	.	.	.	.	.	.	.	0.00000408	245182	.	.	.	.	.	-0.7491	.	0.376,T	0.007,B	0.001,B	0.999889,D	0.000003,D	1.035,L	-1.06,T	11.2336	2.765	1.970	2.288251,18.09	5.28	0.0072322853724	VDB=0.0182677;SGB=-0.683931;RPB=0.523874;MQB=3.76463e-06;MQSB=0.926881;BQB=0.965639;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=52;DP4=22,8,10,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/1:43:201,0,255:30,13	C	T	0	1	.	.	.	.	.	GO_REGULATION_OF_GROWTH;GO_BIOLOGICAL_ADHESION	.	.	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic positivity. Squamous epithelia and exonal projection in CNS were strongly stained. Liver, skin, endometrial glands, skeletal myocytes and lymphoid cells were generally negative.	http://www.proteinatlas.org/ENSG00000144847-IGSF11/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 13.3	.	.	PM2
M	3	121352005	rs140124715	A	G	222	PASS	HCLS1	Hematopoietic cell-specific Lyn substrate 1	exonic	NM_001292041,NM_005335	.	missense SNV	HCLS1:NM_001292041:exon10:c.T806C:p.V269A,HCLS1:NM_005335:exon11:c.T917C:p.V306A	ENST00000428394.6,ENST00000495491.5,ENSG00000180353.10,ENST00000314583.7,ENST00000473883.5	.	3q13.33	.	.	.	.	.	rs140124715	.	.	.	.	.	0.0003	0.00010928	265378	0.00082219	18244	0.00038865	0.00176056	.	0.6780	.	0.687,T	0.002,B	0.0,B	1,N	0.119689,N	-2.08,N	2.08,T	6.7541	0.850	0.802	.	2.38	0.00159237277649	VDB=0.106174;SGB=-0.692914;RPB=0.999864;MQB=1.38892e-09;MQSB=0.969632;BQB=0.93355;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=14,17,10,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:56:255,0,255:31,25	A	G	0	1	Hematopoietic cell-specific Lyn substrate 1, 601306	.	.	.	8978766|2587259|15931393	GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_MYELOID_CELL_HOMEOSTASIS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_ERYTHROCYTE_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_POSITIVE_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_STAT_CASCADE;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_ACTIN_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_GRANULOCYTE_DIFFERENTIATION;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_PROTEIN_POLYMERIZATION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ACTIN_FILAMENT_POLYMERIZATION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MACROPHAGE_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_MYELOID_CELL_DIFFERENTIATION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_STAT_CASCADE;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_TARGETING;GO_POSITIVE_REGULATION_OF_MACROPHAGE_DIFFERENTIATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_MITOCHONDRION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_KINASE_BINDING;GO_SH3_DOMAIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_TIGHT_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_FCER1_PATHWAY	.	.	Expression in immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000180353-HCLS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 201.0	.	.	BP4, PM2
L	3	122880179	rs530697386	C	T	150	PASS	PDIA5	Protein disulfide isomerase, family A, member 5	exonic	NM_006810	.	synonymous SNV	PDIA5:NM_006810:exon16:c.C1356T:p.A452A	ENST00000467157.1,ENST00000316218.11,ENST00000489923.5,ENSG00000065485.19,ENST00000469649.1	.	3q21.1	.	.	.	.	.	rs530697386	.	.	0.00166113	0.001	0.000199681	.	0.00017346	276724	0.00180314	18856	0.00330354	0.00264085	.	0.2929	.	.	.	.	.	.	.	.	.	-0.153	-0.011	2.160647,17.25	.	.	VDB=0.253145;SGB=-0.693127;RPB=0.998655;MQB=0.715342;BQB=0.983132;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=82;DP4=38,0,33,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:48:.:.	0/0:50:.:.	0/1:71:183,0,210:38,33	C	T	0	1	Protein disulfide isomerase, family A, member 5, 616942	.	.	.	7556671|24636989|14627699	GO_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_HOMEOSTATIC_PROCESS;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_CELL_REDOX_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_OXIDATION_REDUCTION_PROCESS;GO_PROTEIN_FOLDING;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_HOMEOSTASIS;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN	GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_TRANSPOSING_S_S_BONDS;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY;GO_ISOMERASE_ACTIVITY	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	Cytoplasmic expression in most tissues, highest levels in epithelial cells.	http://www.proteinatlas.org/ENSG00000065485-PDIA5/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 39.4	nucleus; nucleoli; plasma membrane; cytoplasm; golgi apparatus	.	BP7, PM2
H	3	126158546	rs573319902	G	C	222	PASS	ZXDC	ZCD family zinc finger protein C	exonic	NM_025112	.	missense SNV	ZXDC:NM_025112:exon9:c.C2419G:p.L807V	ENST00000515545.5,ENSG00000070476.14,ENST00000389709.7,ENST00000514463.1	.	3q21.3	.	.	.	.	.	rs573319902	.	.	0.00166113	0.001	0.000199681	.	0.00017727	180520	0.00265913	12034	0.00272056	0.00616197	.	0.5332	.	0.003,D	0.257,B	0.734,P	0.865409,D	0.005850,N	2.16,M	2.15,T	8.7041	-0.075	0.282	1.802226,15.00	.	0.0118685604853	VDB=0.556057;SGB=-0.69312;RPB=0.98363;MQB=5.28179e-11;MQSB=0.350767;BQB=0.950338;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=111;DP4=33,15,19,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:96:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:80:255,0,255:48,32	G	C	0	1	ZCD family zinc finger protein C, 615746	.	.	.	16600381|17493635|23954399	GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION	.	GO_C2H2_ZINC_FINGER_DOMAIN_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_LRR_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000070476-ZXDC/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 13.3	nucleoli; vesicles	.	.
L	3	126676337	rs557587959	G	A	222	PASS	CHCHD6	Coiled-coil-helix-coiled-coil-helix domain-containing protein 6	exonic	NM_001320610,NM_032343	.	synonymous SNV	CHCHD6:NM_001320610:exon7:c.G648A:p.V216V,CHCHD6:NM_032343:exon7:c.G645A:p.V215V	ENST00000508789.5,ENST00000510044.1,ENST00000504973.5,ENST00000503119.5,ENST00000290913.7,ENSG00000159685.10,ENST00000513253.1	.	3q21.3	.	.	.	.	.	rs557587959	.	.	0.00166113	0.001	0.000199681	.	0.00016372	250430	0.00216248	17110	0.00213758	0.00176056	.	-0.0422	.	.	.	.	1,D	.	.	.	4.384	-0.353	-0.117	1.247742,12.00	.	.	VDB=0.636886;SGB=-0.693054;RPB=0.963603;MQB=1.7358e-06;MQSB=0.255724;BQB=0.729868;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=75;DP4=20,10,23,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/1:58:255,0,255:30,28	G	A	0	1	Coiled-coil-helix-coiled-coil-helix domain-containing protein 6, 615634	.	.	.	22228767|17624330	GO_CRISTAE_FORMATION;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_MITOCHONDRION_ORGANIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS	GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_MEMBRANE_PROTEIN_COMPLEX;GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_INNER_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_MEMBRANE;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MITOCHONDRIAL_PROTEIN_COMPLEX	.	.	.	.	.	A majority of normal tissues showed moderate to strong cytoplasmic staining with a granular pattern. Renal glomeruli, trophoblastic cells, glial cells, skeletal muscle and lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000159685-CHCHD6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 37.0	mitochondria	.	BP7, PM2
H	3	127325110	rs144753488	G	A	222	PASS	MCM2	Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of (mitotin)	exonic	NM_004526	.	missense SNV	MCM2:NM_004526:exon5:c.G823A:p.D275N	ENST00000265056.11,ENST00000491422.1,ENST00000477668.5,ENSG00000073111.13,ENST00000474964.5	.	3q21.3	.	.	.	.	.	rs144753488	.	.	0	.	0.000199681	0.0004	0.00014429	277228	0.00090090	18870	0.00019433	0.00176056	.	-0.0753	MCM N-terminal domain;Nucleic acid-binding, OB-fold	0.059,T	0.533,P	0.975,D	1,D	0.000000,D	1.87,L	2.77,T	18.5425	2.363	9.847	3.512803,23.1	5.1	0.0418576296905	VDB=0.0347336;SGB=-0.693147;RPB=0.653216;MQB=1.26972e-17;MQSB=0.772632;BQB=0.92634;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=146;DP4=20,47,20,30;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/1:117:255,0,255:67,50	G	A	0	1	?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant	.	.	.	3357511|7705359|7760937|26196677|18096807|8265339|7758114|10834843|7760938|8258304|16483939|9223437	GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_INTERLEUKIN_4;GO_DNA_DEPENDENT_DNA_REPLICATION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_CELLULAR_RESPONSE_TO_INTERLEUKIN_4;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_DNA_REPLICATION_INITIATION;GO_CHROMATIN_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_CELL_CYCLE;GO_DNA_GEOMETRIC_CHANGE;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RESPONSE_TO_CYTOKINE;GO_DNA_PACKAGING;GO_DNA_REPLICATION;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_DNA_METABOLIC_PROCESS	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_CHROMOSOMAL_REGION;GO_MCM_COMPLEX;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_CYTOSKELETON;GO_CHROMOSOME_TELOMERIC_REGION	GO_HISTONE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY	KEGG_DNA_REPLICATION;KEGG_CELL_CYCLE	PID_ATR_PATHWAY	BIOCARTA_MCM_PATHWAY	REACTOME_ACTIVATION_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_SYNTHESIS_OF_DNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_DNA_REPLICATION;REACTOME_ACTIVATION_OF_ATR_IN_RESPONSE_TO_REPLICATION_STRESS;REACTOME_UNWINDING_OF_DNA;REACTOME_G2_M_CHECKPOINTS;REACTOME_S_PHASE;REACTOME_DNA_STRAND_ELONGATION	Selective expression in dividing cells.	http://www.proteinatlas.org/ENSG00000073111-MCM2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 32.9	nucleus but not nucleoli; cytoplasm	.	BS2, PM1, PP3
L	3	127429497	rs370914770	C	T	222	PASS	MGLL	Monoglyceride lipase	exonic	NM_001003794,NM_007283	.	synonymous SNV	MGLL:NM_001003794:exon6:c.G492A:p.A164A,MGLL:NM_007283:exon6:c.G522A:p.A174A	ENST00000265052.9,ENST00000398104.5,ENST00000496306.5,ENST00000465597.5,ENST00000434178.6,ENST00000487473.5,ENSG00000074416.13,ENST00000398101.7,ENST00000453507.6,ENST00000476682.1,ENST00000484451.1	.	3q21.3	.	.	.	.	.	rs370914770	.	.	.	.	.	7.9e-05	0.00002421	206534	.	.	.	.	.	-3.5796	.	.	.	.	0.984416,D	.	.	.	12.4808	-3.502	-4.037	1.080481,11.11	.	.	VDB=0.0362317;SGB=-0.693147;RPB=0.995363;MQB=1.18098e-15;MQSB=0.22442;BQB=0.527918;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=134;DP4=40,18,20,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:74:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:98:.:.	0/1:103:255,0,255:58,45	C	T	0	1	Monoglyceride lipase, 609699	.	.	.	12136125|11470505|22969151|20079333|22021672|9495531	GO_REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEUTRAL_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_SENSORY_PERCEPTION;GO_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_TRIGLYCERIDE_CATABOLIC_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_LYSOPHOSPHOLIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_IDENTICAL_PROTEIN_BINDING;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY;GO_PHOSPHOLIPASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_HORMONE_SENSITIVE_LIPASE_HSL_MEDIATED_TRIACYLGLYCEROL_HYDROLYSIS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Cytoplasmic expression of varying levels in most cell types.	http://www.proteinatlas.org/ENSG00000074416-MGLL/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 124.0	nucleus but not nucleoli	.	BP7, PM2
H-	3	129266417	rs762265017	T	A	222	PASS	H1FOO	.	exonic	NM_153833	.	missense SNV	H1FOO:NM_153833:exon2:c.T272A:p.L91H	ENSG00000178804.7,ENST00000324382.6	.	3q22.1	.	.	.	.	.	rs762265017	.	.	.	.	.	.	0.00001230	162538	0.00016941	11806	0.00097201	0.00088339	.	0.2421	Linker histone H1/H5, domain H15;Winged helix-turn-helix DNA-binding domain	0.18,T	0.885,P	0.99,D	1,N	0.575976,N	0.255,N	1.86,T	2.4511	-0.767	-1.274	.	.	0.0222232001318	VDB=0.000442186;SGB=-0.693147;RPB=0.99336;MQB=6.82388e-15;MQSB=0.910489;BQB=0.744342;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=145;DP4=32,20,31,20;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:103:255,0,255:52,51	T	A	0	1	.	.	.	.	.	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_DNA_METHYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REPRODUCTION;GO_DNA_PACKAGING;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_CHROMOSOME;GO_GERM_CELL_NUCLEUS;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_DNA_PACKAGING_COMPLEX;GO_NUCLEOLUS	GO_NUCLEOSOME_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_CHROMATIN_DNA_BINDING;GO_NUCLEOSOMAL_DNA_BINDING;GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURE_SPECIFIC_DNA_BINDING	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000178804-H1FOO/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM1, PM2
M	3	129694666	rs13306057	G	A	208	PASS	TRH	Thyrotropin-releasing hormone	exonic	NM_007117	.	missense SNV	TRH:NM_007117:exon2:c.G7A:p.G3S	ENST00000507066.1,ENST00000302649.3,ENSG00000170893.3	CpG: 155	3q22.1	.	.	.	.	.	rs13306057	.	.	0.00332226	0.003	0.000599042	0.0002	0.00040214	263590	0.00405099	18514	0.00388651	.	.	-0.3897	.	0.27,T	0.002,B	0.029,B	1,N	0.109755,N	1.3,L	0.31,T	2.4075	-0.406	0.304	.	.	0.0080519396691	VDB=0.148798;SGB=-0.69168;RPB=0.995078;MQB=3.15454e-06;MQSB=0.552809;BQB=0.610534;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=40;DP4=15,1,16,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:10:.:.	0/0:32:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:29:.:.	0/1:35:241,0,194:16,19	G	A	0	1	Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive	.	.	.	19825978|24487620|7647472|2126343|10702693|1900134	GO_RESPONSE_TO_ETHANOL;GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_RESPONSE_TO_COLD;GO_REGULATION_OF_ORGANIC_ACID_TRANSPORT;GO_RESPONSE_TO_STEROID_HORMONE;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_CORTICOSTEROID;GO_ADULT_BEHAVIOR;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_ADULT_LOCOMOTORY_BEHAVIOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_INSULIN_SECRETION;GO_NEGATIVE_REGULATION_OF_ANION_TRANSPORT;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_BEHAVIOR;GO_REGULATION_OF_FEEDING_BEHAVIOR;GO_REGULATION_OF_AMINE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_AMINE_METABOLIC_PROCESS;GO_EATING_BEHAVIOR;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_AMINE_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_HORMONE_SECRETION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_HORMONE_SECRETION;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_BEHAVIOR;GO_POSITIVE_REGULATION_OF_AMINE_TRANSPORT;GO_RESPONSE_TO_CARBOHYDRATE;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_IMIDAZOLE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_RESPONSE_TO_CORTICOSTERONE;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_GLUTAMATE_SECRETION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_LOCOMOTORY_BEHAVIOR;GO_RESPONSE_TO_MINERALOCORTICOID;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_NEGATIVE_REGULATION_OF_ORGANIC_ACID_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_FEEDING_BEHAVIOR;GO_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGANIC_ACID_TRANSPORT;GO_POSITIVE_REGULATION_OF_SECRETION;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_ANION_TRANSPORT;GO_BEHAVIOR;GO_POSITIVE_REGULATION_OF_AMINO_ACID_TRANSPORT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_WALKING_BEHAVIOR;GO_POSITIVE_REGULATION_OF_ANION_TRANSPORT	GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE	GO_NEUROPEPTIDE_HORMONE_ACTIVITY;GO_HORMONE_ACTIVITY;GO_RECEPTOR_BINDING	.	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	Selective cytoplasmic and membranous expression in glandular cells of uterus.	http://www.proteinatlas.org/ENSG00000170893-TRH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 2.3	.	.	BP4, PM2
L	3	136664453	rs183326283	T	C	145	PASS	NCK1	.	exonic	NM_001190796,NM_001291999,NM_006153	.	synonymous SNV	NCK1:NM_001190796:exon2:c.T63C:p.S21S,NCK1:NM_001291999:exon3:c.T255C:p.S85S,NCK1:NM_006153:exon3:c.T255C:p.S85S	ENST00000488930.5,ENST00000496489.5,ENST00000469404.1,ENSG00000158092.6,ENST00000467911.1,ENST00000491539.5,ENST00000288986.6,ENST00000485096.5,ENST00000481752.5	.	3q22.3	.	.	Score=826;Name=V$GR_Q6	.	.	rs183326283	.	.	0.0199336	0.0208	0.00419329	.	0.00090702	274524	0.01274697	18828	0.00893898	0.00528169	.	0.5593	.	.	.	.	1,D	.	.	.	6.5525	1.162	-0.572	.	3.84	.	VDB=0.139293;SGB=-0.676189;RPB=1;MQB=0.00083264;MQSB=1;BQB=0.685489;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=30;DP4=13,0,10,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:24:178,0,190:13,11	T	C	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_REGULATION_OF_CELL_ACTIVATION;GO_LEUKOCYTE_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_REGULATION_OF_TRANSLATION_IN_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_FC_GAMMA_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION;GO_CELL_CELL_ADHESION;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_ACTIVATION;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_LOCOMOTION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_LAMELLIPODIUM_ORGANIZATION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_DEPHOSPHORYLATION;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_IN_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_TRANSLATIONAL_INITIATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_SUBSTRATE_DEPENDENT_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSLATION;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_PHAGOCYTOSIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_LAMELLIPODIUM_ASSEMBLY;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_PHOSPHATASE_COMPLEX;GO_VESICLE_MEMBRANE;GO_RIBOSOME;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_PROTEIN_PHOSPHATASE_TYPE_1_COMPLEX;GO_CELL_JUNCTION;GO_CATALYTIC_COMPLEX;GO_CELL_CELL_JUNCTION;GO_GOLGI_APPARATUS;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_ENDOPLASMIC_RETICULUM;GO_ORGANELLE_SUBCOMPARTMENT	GO_PROTEIN_COMPLEX_SCAFFOLD;GO_CYTOSKELETAL_PROTEIN_BINDING;GO_KINASE_INHIBITOR_ACTIVITY;GO_CYTOSKELETAL_ADAPTOR_ACTIVITY;GO_KINASE_BINDING;GO_KINASE_REGULATOR_ACTIVITY;GO_BINDING_BRIDGING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_TRANSLATION_INITIATION_FACTOR_BINDING;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ARF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_RECEPTOR_SIGNALING_COMPLEX_SCAFFOLD_ACTIVITY;GO_ENZYME_BINDING;GO_PROTEIN_TYROSINE_KINASE_BINDING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_SH3_SH2_ADAPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_RECEPTOR_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_INSULIN_PATHWAY;PID_TCR_PATHWAY;PID_MET_PATHWAY;PID_EPHB_FWD_PATHWAY;PID_RET_PATHWAY;PID_ARF6_PATHWAY;PID_ANGIOPOIETIN_RECEPTOR_PATHWAY;PID_NETRIN_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_PDGFRB_PATHWAY;PID_NEPHRIN_NEPH1_PATHWAY;PID_VEGFR1_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_ACTINY_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_TCR_SIGNALING;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_AXON_GUIDANCE;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_NEPHRIN_INTERACTIONS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	General cytoplasmic expression, often with a granular pattern.	http://www.proteinatlas.org/ENSG00000158092-NCK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 37.5	plasma membrane; cytoplasm	.	.
H-	3	148563303	rs142211299	C	T	222	PASS	CPB1	Carboxypeptidase B1, tissue	exonic	NM_001871	.	missense SNV	CPB1:NM_001871:exon9:c.C871T:p.R291C	ENSG00000153002.11,ENST00000491148.5,ENST00000282957.8	.	3q24	.	.	Score=838;Name=V$CHOP_01	.	.	rs142211299	.	.	.	.	.	7.7e-05	0.00001219	246090	.	.	.	.	.	-0.0900	Peptidase M14, carboxypeptidase A	0.0,D	0.997,D	1.0,D	1,D	0.000000,D	3.26,M	2.72,T	19.8033	2.677	7.468	8.157756,35	5.69	0.0963536095517	VDB=0.72211;SGB=-0.693054;RPB=0.715204;MQB=1.33179e-08;MQSB=0.999974;BQB=0.765648;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=90;DP4=25,11,18,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:64:255,0,255:36,28	C	T	0	1	Carboxypeptidase B1, tissue, 114852	.	.	.	2459692|1370825	GO_PROTEOLYSIS	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_CARBOXYPEPTIDASE_ACTIVITY;GO_METALLOEXOPEPTIDASE_ACTIVITY;GO_METALLOCARBOXYPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING	.	.	.	.	Selective cytoplasmic expression in exocrine glandular cells.	http://www.proteinatlas.org/ENSG00000153002-CPB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	ovary: 98.4	.	.	PM1, PM2, PP3
H	3	149485212	rs182267308	C	A	222	PASS	ANKUB1	.	exonic	NM_001144960,NM_001315505,NM_001315506	.	missense SNV	ANKUB1:NM_001144960:exon5:c.G1237T:p.A413S,ANKUB1:NM_001315505:exon5:c.G799T:p.A267S,ANKUB1:NM_001315506:exon5:c.G1237T:p.A413S	ENST00000462519.3,ENST00000446160.6,ENSG00000206199.10,ENST00000484019.1	.	3q25.1	.	.	.	.	.	rs182267308	.	.	0.00166113	0.001	0.000199681	.	0.00001346	148624	0.00019531	10240	0.00116595	0.00176056	.	-0.0683	.	0.121,T	0.005,B	0.01,B	1,D	.	0,N	1.92,T	6.5149	0.718	-0.044	.	2.82	0.00654674468138	VDB=0.0376644;SGB=-0.693147;RPB=0.373044;MQB=2.9611e-12;MQSB=0.419656;BQB=0.841714;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=124;DP4=31,8,38,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:100:.:.	0/1:94:255,0,255:39,55	C	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000206199-ANKUB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 0.9	.	.	PM2
L-	3	149678621	.	A	C	222	PASS	RNF13	.	exonic	NM_007282,NM_183381	.	synonymous SNV	RNF13:NM_183381:exon10:c.A876C:p.S292S,RNF13:NM_007282:exon11:c.A876C:p.S292S	ENSG00000082996.19,ENST00000482083.7,ENST00000344229.7,ENST00000392894.7,ENST00000493238.1,ENST00000491086.5,ENST00000468289.1,ENSG00000206199.10,ENST00000361785.10,ENST00000481585.1	.	3q25.1	.	.	.	Score=0.934655;Name=chr3:180488509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.395	0.150	.	.	.	VDB=0.278993;SGB=-0.692976;RPB=0.0862154;MQB=0.00338748;MQSB=0.99359;BQB=0.523318;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=59;DP4=15,7,19,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:22,26	A	C	0	1	.	.	.	.	.	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_AUTOUBIQUITINATION;GO_PROTEIN_UBIQUITINATION	GO_NUCLEAR_ENVELOPE;GO_LATE_ENDOSOME_MEMBRANE;GO_VACUOLE;GO_ORGANELLE_INNER_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_NUCLEAR_INNER_MEMBRANE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENVELOPE;GO_GOLGI_APPARATUS;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Most normal tissues showed weak cytoplasmic, nuclear and nucleolar positivity. Strong staining in a subset of inflammatory cells. Strong both nuclear and cytoplasmic positivity in squamous epithelia.	http://www.proteinatlas.org/ENSG00000082996-RNF13/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 53.1	nucleus but not nucleoli; vesicles; cytoplasm	.	BP7, PM2
M	3	151166397	rs78861718	T	C	222	PASS	IGSF10	Immunoglobulin superfamily, member 10	exonic	NM_178822	.	missense SNV	IGSF10:NM_178822:exon4:c.A1372G:p.I458V	ENSG00000152580.8,ENST00000282466.3	.	3q25.1	.	.	.	.	.	rs78861718	.	.	0.00664452	0.0159	0.00319489	.	0.00099252	277072	0.01425543	18870	0.01243684	0.01144366	.	-0.1551	.	0.824,T	0.002,B	0.005,B	0.999996,N	0.243456,N	-0.15,N	-0.47,T	8.9269	-0.639	-1.862	.	.	.	VDB=0.418295;SGB=-0.692976;RPB=0.941336;MQB=2.40636e-05;MQSB=0.9375;BQB=0.178122;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=67;DP4=10,16,13,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:63:.:.	0/0:50:.:.	0/0:37:.:.	0/0:38:.:.	0/0:50:.:.	0/1:52:255,0,255:26,26	T	C	0	1	Immunoglobulin superfamily, member 10, 617351	.	.	.	27137492	GO_OSSIFICATION	.	.	.	.	.	.	Normal tissues displayed moderate cytoplasmic staining. Kidney glomeruli and seminal vesicles showed strong cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000152580-IGSF10/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 9.2	cytoskeleton (intermediate filaments); nucleus but not nucleoli	.	BP4
H	3	152553672	rs118182811	C	T	222	PASS	P2RY1	Purinergic receptor P2Y, G-protein coupled, 1	exonic	NM_002563	.	missense SNV	P2RY1:NM_002563:exon1:c.C101T:p.A34V	ENST00000305097.5,ENSG00000169860.6	CpG: 120	3q25.2	.	.	.	.	.	rs118182811	.	.	0.0265781	0.0218	0.00439297	.	0.00129958	277012	0.01674793	18868	0.01904392	0.02024648	.	.	.	0.284,T	0.001,B	0.0,B	0.971309,N	0.666603,N	1.245,L	-0.29,T	7.9156	2.493	1.594	2.731797,21.0	3.47	.	VDB=0.177298;SGB=-0.69311;RPB=0.7707;MQB=1.50387e-12;MQSB=0.908344;BQB=0.372545;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=117;DP4=50,9,25,6;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:52:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:57:.:.	0/0:50:.:.	0/1:90:255,0,255:59,31	C	T	0	1	Purinergic receptor P2Y, G-protein coupled, 1, 601167	.	.	.	9039850|8579591|10606627|8666290|17960245|17913880|9286708|25822790	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_G_PROTEIN_COUPLED_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_SENSORY_PERCEPTION;GO_G_PROTEIN_COUPLED_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_REGULATION_OF_VASODILATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_NOREPINEPHRINE_SECRETION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_HORMONE_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_WOUND_HEALING;GO_CELL_MOTILITY;GO_AGING;GO_SENSORY_PERCEPTION_OF_PAIN;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_CATECHOLAMINE_SECRETION;GO_REGULATION_OF_AMINE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_EATING_BEHAVIOR;GO_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_AMINE_TRANSPORT;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_GLIOGENESIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_RELAXATION_OF_MUSCLE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_HORMONE_SECRETION;GO_LOCOMOTION;GO_REGULATION_OF_INOSITOL_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_BINDING;GO_GLIAL_CELL_MIGRATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATECHOLAMINE_SECRETION;GO_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_FEEDING_BEHAVIOR;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_BINDING;GO_POSITIVE_REGULATION_OF_SECRETION;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_BEHAVIOR;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_HEMOSTASIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SIGNAL_TRANSDUCTION_INVOLVED_IN_REGULATION_OF_GENE_EXPRESSION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_EXCITATORY_SYNAPSE;GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POSTSYNAPSE;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_MITOCHONDRION;GO_CELL_SURFACE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_ADP_BINDING;GO_SCAFFOLD_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_P2Y_RECEPTORS;REACTOME_NUCLEOTIDE_LIKE_PURINERGIC_RECEPTORS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_GPCR_LIGAND_BINDING;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Normal tissues showed weak to moderate cytoplasmic staining. Trophoblastic cells exhibited strong cytoplasmic microvillous staining. CNS and lymphoid tissues were weak to negative.	http://www.proteinatlas.org/ENSG00000169860-P2RY1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 12.7	.	.	.
H	3	154857998	rs149431215	G	A	207	PASS	MME	Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen)	exonic	NM_000902,NM_007287,NM_007288,NM_007289	.	missense SNV	MME:NM_000902:exon10:c.G874A:p.D292N,MME:NM_007287:exon10:c.G874A:p.D292N,MME:NM_007288:exon10:c.G874A:p.D292N,MME:NM_007289:exon10:c.G874A:p.D292N	ENST00000462745.5,ENST00000360490.6,ENSG00000196549.10,ENST00000615825.1,ENST00000460393.5,ENST00000492661.5,ENST00000493237.5	.	3q25.2	.	.	Score=864;Name=V$MRF2_01	.	.	rs149431215	.	.	0.00830565	0.0089	0.00179712	0.0002	0.00033685	276090	0.00414894	18800	0.00291602	0.00530035	.	-0.4654	Peptidase M13, N-terminal domain	0.002,D	0.359,B	0.504,P	1,D	0.000016,D	1.445,L	-0.82,T	19.1928	2.596	8.363	7.024369,33	5.23	0.105202761309	VDB=0.611332;SGB=-0.683931;RPB=0.685489;MQB=0.000668303;MQSB=0.927743;BQB=0.898155;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=34;DP4=10,1,10,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:24:240,0,225:11,13	G	A	0	1	Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant	.	.	.	27588448|2521237|17296549|2528730|12087141|27583304|26991897|11375493|2957371|14687544|2971756|2570286|17296550|15944124|16226260|15778722|2521388|3038078|2529024|17101991	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_UV;GO_PROTEIN_MATURATION;GO_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS;GO_BETA_AMYLOID_METABOLIC_PROCESS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_AGING;GO_SENSORY_PERCEPTION_OF_PAIN;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_UV;GO_RESPONSE_TO_RADIATION;GO_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_RADIATION;GO_REPLICATIVE_SENESCENCE;GO_CELL_AGING;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_RENIN_ANGIOTENSIN;GO_PEPTIDE_HORMONE_PROCESSING;GO_RESPONSE_TO_CYTOKINE;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_HORMONE;GO_RESPONSE_TO_UV_B;GO_HORMONE_METABOLIC_PROCESS;GO_ENDOCRINE_PROCESS;GO_PROTEOLYSIS;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_MEDIATED_BY_A_CHEMICAL_SIGNAL	GO_NEURON_PROJECTION_TERMINUS;GO_EXOCYTIC_VESICLE;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_BRUSH_BORDER;GO_CELL_JUNCTION;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_ANCHORING_JUNCTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_TRANSPORT_VESICLE;GO_SYNAPSE_PART;GO_DENDRITE	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_AMIDE_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_RENIN_ANGIOTENSIN_SYSTEM;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_ALZHEIMERS_DISEASE	.	.	.	Distinct luminal membrane expression in the small intestine, kidney, epididymis and prostate. Membranous expression in hepatocytes.	http://www.proteinatlas.org/ENSG00000196549-MME/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 82.8	.	.	BS2, PM1
L	3	159606716	rs2306063	C	T	154	PASS	IQCJ-SCHIP1,SCHIP1	.	exonic	NM_001197107,NM_001197108,NM_001197109,NM_001197113,NM_001197114,NM_014575	.	synonymous SNV	SCHIP1:NM_001197108:exon5:c.C606T:p.L202L,SCHIP1:NM_001197109:exon5:c.C573T:p.L191L,SCHIP1:NM_001197107:exon6:c.C1263T:p.L421L,SCHIP1:NM_014575:exon6:c.C1302T:p.L434L,IQCJ-SCHIP1:NM_001197114:exon8:c.C1449T:p.L483L,IQCJ-SCHIP1:NM_001197113:exon9:c.C1530T:p.L510L	ENST00000476809.7,ENSG00000283154.2,ENST00000412423.8,ENST00000445224.6,ENST00000460298.3,ENST00000482885.1,ENST00000485419.7,ENST00000638311.1,ENST00000527095.7,ENST00000482804.1,ENST00000475932.1,ENSG00000151967.18,ENST00000495954.5,ENST00000638749.1	.	3q25.33	.	.	Score=886;Name=V$RORA1_01	.	.	rs2306063	.	.	.	.	.	7.7e-05	0.00054511	277010	0.00700191	18852	0.00349786	0.00352113	.	0.0471	.	.	.	.	.	.	.	.	.	0.332	0.055	1.957545,15.94	2.67	.	VDB=0.0132092;SGB=-0.670168;RPB=0.870045;MQB=0.000497824;MQSB=0.598331;BQB=0.998948;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=7,12,2,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:29:187,0,255:19,10	C	T	0	1	.	.	.	.	.	.	.	GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	.	.	.	.	.	.	PP3
H	3	183823729	rs187832026	G	T	222	PASS	HTR3E	5-hydroxytryptamine receptor 3, subunit E	exonic	NM_001256613,NM_001256614,NM_182589,NM_198313,NM_198314	.	missense SNV	HTR3E:NM_001256614:exon5:c.G975T:p.L325F,HTR3E:NM_198314:exon5:c.G897T:p.L299F,HTR3E:NM_182589:exon6:c.G942T:p.L314F,HTR3E:NM_198313:exon6:c.G852T:p.L284F,HTR3E:NM_001256613:exon7:c.G897T:p.L299F	ENSG00000186038.9,ENST00000415389.6,ENST00000436361.6,ENST00000335304.6,ENST00000425359.6,ENST00000440596.2	.	3q27.1	.	.	.	.	.	rs187832026	.	.	0.00830565	0.0069	0.00139776	.	0.00060604	277208	0.00842786	18866	0.00408084	0.00176056	.	-0.1193	Neurotransmitter-gated ion-channel transmembrane domain;Nicotinic acetylcholine-gated receptor, transmembrane domain	0.025,D	0.489,P	0.474,P	0.894548,N	0.038965,U	3.525,H	-2.01,D	6.2322	-0.573	0.088	4.074539,23.7	.	0.0432481964225	VDB=0.0413228;SGB=-0.693147;RPB=0.876173;MQB=3.57136e-26;MQSB=0.943303;BQB=0.977638;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=269;DP4=77,35,62,24;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:198:255,0,255:112,86	G	T	0	1	5-hydroxytryptamine receptor 3, subunit E, 610123	.	.	.	18614545|14597179|12801637	GO_ION_TRANSPORT;GO_SYNAPTIC_TRANSMISSION_CHOLINERGIC;GO_CELL_CELL_SIGNALING;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYNAPTIC_SIGNALING;GO_TRANSMEMBRANE_TRANSPORT	GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_RECEPTOR_COMPLEX;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_NEUROTRANSMITTER_BINDING;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_ACETYLCHOLINE_RECEPTOR_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SEROTONIN_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_NEUROTRANSMITTER_RECEPTOR_ACTIVITY;GO_EXCITATORY_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_ACETYLCHOLINE_BINDING;GO_QUATERNARY_AMMONIUM_GROUP_BINDING;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_G_PROTEIN_COUPLED_AMINE_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_AMMONIUM_ION_BINDING;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Cytoplasmic expression in enterochromaffin cells in gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000186038-HTR3E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 0.4	.	.	PM1
H	3	193332826	.	A	G	209	PASS	OPA1	Optic atrophy 1 gene	exonic	NM_015560,NM_130831,NM_130832,NM_130833,NM_130834,NM_130835,NM_130836,NM_130837	.	missense SNV	OPA1:NM_015560:exon2:c.A347G:p.K116R,OPA1:NM_130831:exon2:c.A347G:p.K116R,OPA1:NM_130832:exon2:c.A347G:p.K116R,OPA1:NM_130833:exon2:c.A347G:p.K116R,OPA1:NM_130834:exon2:c.A347G:p.K116R,OPA1:NM_130835:exon2:c.A347G:p.K116R,OPA1:NM_130836:exon2:c.A347G:p.K116R,OPA1:NM_130837:exon2:c.A347G:p.K116R	ENST00000361510.6,ENST00000361150.6,ENST00000434811.1,ENST00000392436.6,ENST00000487986.1,ENST00000419435.5,ENST00000392437.5,ENSG00000198836.8,ENST00000361715.6,ENST00000392438.7,ENST00000361828.6,ENST00000361908.7	.	3q29	.	.	.	.	.	.	.	.	.	.	.	.	0.00000821	243666	0.00005799	17244	.	.	.	0.0929	.	0.005,D	.	.	1,D	0.000000,D	.	-0.22,T	15.642	2.288	8.278	1.875453,15.44	5.97	0.166765746584	VDB=0.0614486;SGB=-0.69168;RPB=0.925785;MQB=2.04234e-06;MQSB=0.644665;BQB=0.90497;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=50;DP4=7,14,3,16;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:40:242,0,255:21,19	A	G	0	1	Behr syndrome, 210000 (3), Autosomal recessive; {Glaucoma, normal tension, susceptibility to}, 606657 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant	.	.	.	11017080|16240368|14644237|18158317|12073024|11810296|20185555|20417568|25012220|25146916|17188070|15509649|17428816|11810270|11017079|20974897|18195150|16839885|19181907|20038677|18065439|25275009|9917792|1532158|24091702|16158427|17188046|21112924|15297626|4058877|18281461|9628581|12509422|17024226|15531309|9790976|10547374|11440988|21636302|17722006|16323009|12566046|26561570|19029523|11735024|11440989|6493699|9490303|20157015|20484224|19581274	GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_REGULATION_OF_CELL_MATURATION;GO_AXO_DENDRITIC_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_MEMBRANE_FUSION;GO_CELL_DEATH;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_SENESCENCE;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_AGING;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_ORGANELLE_FISSION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_MITOCHONDRIAL_FISSION;GO_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MITOCHONDRIAL_FUSION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_MITOCHONDRION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_CELL_AGING;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_MEMBRANE_ORGANIZATION;GO_MITOCHONDRIAL_GENOME_MAINTENANCE;GO_MICROTUBULE_BASED_MOVEMENT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_MITOCHONDRION_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_ORGANELLE_FUSION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_CYTOPLASMIC_REGION;GO_CELL_PROJECTION_CYTOPLASM;GO_NEURON_PART;GO_AXON;GO_ORGANELLE_INNER_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_NEURON_PROJECTION;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_AXON_CYTOPLASM;GO_ORGANELLE_ENVELOPE_LUMEN;GO_OUTER_MEMBRANE;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENVELOPE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_MITOCHONDRIAL_ENVELOPE;GO_AXON_PART;GO_DENDRITE	GO_GTPASE_ACTIVITY;GO_MAGNESIUM_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	Cytoplasmic expression in a granular pattern in most tissues.	http://www.proteinatlas.org/ENSG00000198836-OPA1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 28.8	nucleus but not nucleoli; mitochondria	.	PM2, PP3
L	3	195452619	rs200883738	C	T	25.0276	PASS	MUC20	Mucin 20, cell surface-associated	exonic	NM_001282506,NM_001291833,NM_020790	.	missense SNV	MUC20:NM_001282506:exon2:c.C1145T:p.A382V,MUC20:NM_001291833:exon4:c.C632T:p.A211V,MUC20:NM_020790:exon4:c.C689T:p.A230V	ENST00000628125.2,ENST00000628392.2,ENSG00000242086.8,ENST00000629807.2,ENST00000445522.6,ENST00000594446.5,ENST00000627035.2,ENST00000631359.2,ENSG00000176945.16,ENST00000629721.2,ENST00000600197.1,ENST00000627297.2,ENST00000320736.10,ENST00000447234.6,ENST00000597662.5,ENST00000626093.1,ENST00000628982.1,ENST00000595086.5,ENST00000627993.2,ENST00000629537.2,ENST00000436408.5	CpG: 57	3q29	.	.	.	Score=0.979653;Name=chr3:195341293	.	rs200883738	.	.	.	.	.	.	0.00044299	108354	0.00064185	4674	0.14452780	0.02075472	.	1.9660	.	0.025,D	0.079,B	0.504,P	1,N	.	0,N	2.43,T	.	0.567	1.554	1.925611,15.75	.	.	VDB=2.29041e-08;SGB=-0.693146;RPB=0.858582;MQB=0.000639536;MQSB=0.00239038;BQB=0.185352;MQ0F=0;ICB=1;HOB=0.5;MQ=31;DP=186;DP4=97,12,39,5;MinDP=100;AN=12;AC=1	GT:DP:PL:AD	0/0:103:.:.	./.:.:.:.	0/0:105:.:.	0/0:106:.:.	0/0:102:.:.	./.:.:.:.	0/0:100:.:.	./.:.:.:.	0/1:153:59,0,255:109,44	C	T	0	1	Mucin 20, cell surface-associated, 610360	.	.	.	15314156|14565953|17058067	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PROTEIN_OLIGOMERIZATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_GLYCOSYLATION;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_O_GLYCAN_PROCESSING;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_BASAL_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_MICROVILLUS;GO_MICROVILLUS_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN;GO_MEMBRANE_REGION;GO_BASAL_PART_OF_CELL	.	.	PID_MET_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000176945-MUC20/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 37.1	.	.	.
L	3	195513063	.	G	A	54	PASS	MUC4	Mucin 4, tracheobronchial	exonic	NM_001322468,NM_018406	.	synonymous SNV	MUC4:NM_018406:exon2:c.C5388T:p.T1796T	ENST00000475231.5,ENST00000346145.8,ENST00000470451.5,ENST00000466475.5,ENST00000463781.7,ENST00000478156.5,ENST00000477756.5,ENST00000480843.5,ENST00000479406.5,ENST00000462323.5,ENSG00000145113.21,ENST00000477086.5,ENST00000349607.8	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	.	.	.	.	.	.	.	0.00153381	185812	0.01906487	11592	0.01321928	0.01788909	.	.	.	.	.	.	.	.	.	.	.	-1.764	0.084	.	.	.	VDB=2.91754e-08;SGB=-0.693147;RPB=0.117543;MQB=2.70824e-07;MQSB=4.44852e-15;BQB=0.997838;MQ0F=0;ICB=1;HOB=0.5;MQ=33;DP=662;DP4=258,107,71,40;MinDP=105;AN=18;AC=1	GT:DP:PL:AD	0/0:185:.:.	0/0:303:.:.	0/0:283:.:.	0/0:342:.:.	0/0:183:.:.	0/0:105:.:.	0/0:161:.:.	0/0:257:.:.	0/1:476:88,0,255:365,111	G	A	0	1	Mucin 4, tracheobronchial, 158372	.	.	.	1351710|17058067|1673336	GO_DIGESTION;GO_HOMEOSTATIC_PROCESS;GO_CELL_MATRIX_ADHESION;GO_TISSUE_HOMEOSTASIS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CELL_SUBSTRATE_ADHESION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_BIOLOGICAL_ADHESION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_EXTRACELLULAR_MATRIX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_RECEPTOR_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Cytoplasmic and membranous expression mainly in respiratory epithelia, goblet cells of the gastrointestinal tract as well as glandular cells in cervix and prostate.	http://www.proteinatlas.org/ENSG00000145113-MUC4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	fallopian tube: 0.4	.	.	BP7
L	3	195513167	.	G	T	109	PASS	MUC4	Mucin 4, tracheobronchial	exonic	NM_001322468,NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.C5284A:p.P1762T	ENST00000475231.5,ENST00000346145.8,ENST00000470451.5,ENST00000466475.5,ENST00000463781.7,ENST00000478156.5,ENST00000477756.5,ENST00000480843.5,ENST00000479406.5,ENST00000462323.5,ENSG00000145113.21,ENST00000477086.5,ENST00000349607.8	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	.	.	.	.	.	.	.	0.00000646	154812	.	.	0.00064935	.	.	.	.	0.242,T	0.0,B	0.012,B	1,N	.	.	1.54,T	2.6645	0.088	-1.822	.	.	0.00156382648572	VDB=0.478368;SGB=-0.693147;RPB=0.275871;MQB=0.305436;MQSB=5.85681e-10;BQB=0.981031;MQ0F=0;ICB=1;HOB=0.5;MQ=37;DP=722;DP4=266,155,90,53;MinDP=105;AN=18;AC=1	GT:DP:PL:AD	0/0:185:.:.	0/0:303:.:.	0/0:283:.:.	0/0:342:.:.	0/0:183:.:.	0/0:105:.:.	0/0:161:.:.	0/0:257:.:.	0/1:564:142,0,255:421,143	G	T	0	1	Mucin 4, tracheobronchial, 158372	.	.	.	1351710|17058067|1673336	GO_DIGESTION;GO_HOMEOSTATIC_PROCESS;GO_CELL_MATRIX_ADHESION;GO_TISSUE_HOMEOSTASIS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CELL_SUBSTRATE_ADHESION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_BIOLOGICAL_ADHESION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_EXTRACELLULAR_MATRIX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_RECEPTOR_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Cytoplasmic and membranous expression mainly in respiratory epithelia, goblet cells of the gastrointestinal tract as well as glandular cells in cervix and prostate.	http://www.proteinatlas.org/ENSG00000145113-MUC4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	fallopian tube: 0.4	.	.	BP4, PM2
H	3	195944708	rs868575162	G	A	222	PASS	SLC51A	.	splicing	NM_152672	NM_152672:exon2:c.39-5G>A	.	.	ENST00000441879.5,ENST00000296327.9,ENST00000472653.1,ENSG00000163959.9,ENSG00000161217.11,ENST00000442203.1,ENST00000416660.1	.	3q29	.	.	.	.	.	rs868575162	.	.	.	.	.	.	0.00002186	274524	0.00010656	18768	0.00019433	.	0.0001,0	0.5200	.	.	.	.	.	.	.	.	.	-0.743	-0.257	.	.	.	VDB=0.402814;SGB=-0.693145;RPB=0.902307;MQB=1.66465e-12;MQSB=0.887353;BQB=0.91286;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=119;DP4=36,9,32,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:98:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:85:255,0,255:45,40	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000163959-SLC51A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 9.4	.	.	PM2
L	3	196730258	rs1043960014	GAGCAGGCGGGCGGCGAGGGCGGGCAGC	G	120	PASS	MELTF	.	exonic	NM_005929	.	nonframeshift deletion	MELTF:NM_005929:exon16:c.2175_2201del:p.725_734del	ENST00000446695.1,ENSG00000163975.11,ENST00000296350.9,ENSG00000228109.1,ENST00000469783.1,ENST00000415244.1,ENST00000424769.1	CpG: 185	3q29	.	.	.	.	Score=224;Name="3253775:G-rich(Low_complexity)"	rs1043960014	.	.	.	.	.	.	0.00011031	27196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.469089;SGB=-0.556411;MQSB=0.900802;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=8;DP4=2,2,3,1;IDV=4;IMF=0.5;MinDP=5;AN=16;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/1:8:153,0,160:4,4	GAGCAGGCGGGCGGCGAGGGCGGGCAGC	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
H	4	155408	rs117033117	C	G	222	PASS	ZNF718	.	exonic	NM_001039127,NM_001289930,NM_001289931	.	missense SNV	ZNF718:NM_001039127:exon5:c.C933G:p.F311L,ZNF718:NM_001289931:exon5:c.C837G:p.F279L	ENST00000609714.1,ENST00000510175.5,ENSG00000250312.6	.	4p16.3	.	.	.	.	.	rs117033117	.	.	0.0249169	0.0179	0.00359425	0.0002	0.00151144	275896	0.02154255	18800	0.02331908	0.02904930	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	.	.	.	.	.	.	.	.	0.452	-0.226	.	.	.	VDB=0.941216;SGB=-0.693147;RPB=0.784888;MQB=3.76235e-16;MQSB=0.996225;BQB=0.566514;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=161;DP4=31,26,44,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:80:.:.	0/0:100:.:.	0/0:100:.:.	0/0:77:.:.	0/0:100:.:.	0/0:50:.:.	0/0:101:.:.	0/1:126:255,0,255:57,69	C	G	0	1	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000250312-ZNF718/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 4.0	.	.	PM1
L	4	1066769	rs17728127	C	T	222	PASS	RNF212	Ring finger protein 212	exonic	NM_001131034	.	missense SNV	RNF212:NM_001131034:exon10:c.G787A:p.V263I	ENST00000433731.6,ENST00000506730.5,ENST00000514757.5,ENST00000511620.5,ENST00000510715.5,ENST00000503206.5,ENST00000508633.5,ENST00000505693.5,ENSG00000178222.12,ENST00000508428.5,ENST00000382968.9	.	4p16.3	.	.	.	.	.	rs17728127	.	.	0.0365449	0.0367	0.0121805	0.0111	0.01187831	277228	0.01680093	18868	0.01146522	0.00792254	.	.	.	0.0,D	0.0,B	0.001,B	1,N	.	0,N	0.7,T	0.3496	-3.112	-2.428	.	.	.	VDB=0.289198;SGB=-0.693147;RPB=0.375996;MQB=2.31807e-15;MQSB=0.958098;BQB=0.971626;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=153;DP4=38,22,35,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:117:255,0,255:60,57	C	T	0	1	Recombination rate QTL 1, 612042 (3)	.	.	.	15340062|18239089|24390283|23396135	GO_MEIOTIC_CHROMOSOME_SEGREGATION;GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_MEIOSIS_I;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_ORGANELLE_FISSION;GO_PROTEIN_SUMOYLATION;GO_DNA_RECOMBINATION;GO_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_HOMOLOGOUS_CHROMOSOME_SEGREGATION;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_RECIPROCAL_DNA_RECOMBINATION;GO_REPRODUCTION;GO_CELL_CYCLE_PROCESS;GO_SYNAPSIS;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME;GO_CONDENSED_NUCLEAR_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_SYNAPTONEMAL_COMPLEX;GO_CONDENSED_CHROMOSOME	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000178222-RNF212/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 2.6	.	.	BP4
M	4	1161369	rs765670986	A	G	222	PASS	SPON2	Spondin 2	exonic	NM_001128325,NM_001199021,NM_012445	.	missense SNV	SPON2:NM_012445:exon6:c.T887C:p.L296P,SPON2:NM_001128325:exon7:c.T887C:p.L296P,SPON2:NM_001199021:exon8:c.T887C:p.L296P	ENST00000290902.9,ENSG00000159674.11,ENST00000617421.4,ENST00000431380.5	CpG: 47	4p16.3	.	.	.	.	.	rs765670986	.	.	.	.	.	.	0.00000408	245356	0.00005802	17236	0.00058298	.	.	.	.	0.33,T	0.002,B	0.007,B	0.999978,N	0.577079,N	-0.23,N	2.17,T	6.6421	0.620	1.987	.	2.32	0.0169907048514	VDB=0.0788203;SGB=-0.693147;RPB=0.967429;MQB=1.14312e-16;MQSB=0.261998;BQB=0.999913;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=139;DP4=35,18,24,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/1:103:255,0,255:53,50	A	G	0	1	Spondin 2, 605918	.	.	.	14691481|10512675	GO_NEURON_DEVELOPMENT;GO_ANTIMICROBIAL_HUMORAL_RESPONSE;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE;GO_DEFENSE_RESPONSE_TO_VIRUS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE;GO_DEFENSE_RESPONSE;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_HUMORAL_IMMUNE_RESPONSE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_MACROPHAGE_CYTOKINE_PRODUCTION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_MYELOID_LEUKOCYTE_MEDIATED_IMMUNITY;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;GO_MAST_CELL_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MYELOID_LEUKOCYTE_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE;GO_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_FUNGUS;GO_NEURON_PROJECTION_GUIDANCE;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_DEFENSE_RESPONSE_TO_FUNGUS;GO_PHAGOCYTOSIS;GO_RESPONSE_TO_VIRUS;GO_BIOLOGICAL_ADHESION;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE	GO_LIPOPOLYSACCHARIDE_BINDING;GO_ANTIGEN_BINDING;GO_LIPID_BINDING	.	PID_INTEGRIN2_PATHWAY	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000159674-SPON2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	endometrium: 44.9	cytoplasm; vesicles	.	BP4, PM2
L	4	1988119	rs200107238	T	C	222	PASS	NELFA	.	exonic	NM_005663	.	synonymous SNV	NELFA:NM_005663:exon5:c.A678G:p.K226K	ENST00000411638.6,ENSG00000216105.1,ENST00000333877.8,ENST00000453740.5,ENST00000401286.1,ENST00000467661.5,ENST00000455762.5,ENST00000431323.5,ENST00000421397.5,ENST00000382882.7,ENSG00000185049.14,ENST00000416258.5,ENST00000542778.5,ENST00000463820.5,ENST00000488452.5	CpG: 54	4p16.3	hsa-mir-943	.	Score=685;Name=V$P53_01	.	.	rs200107238	.	.	0.00498339	0.003	0.000599042	.	0.00027928	272126	0.00362938	18736	0.00213758	0.00279330	.	-0.2940	.	0.296,T	.	.	1,D	0.000000,N	.	0.51,T	8.7692	0.287	1.991	1.605876,13.88	2.31	.	VDB=0.0103152;SGB=-0.693132;RPB=0.960945;MQB=0.000535777;MQSB=0.945983;BQB=0.739877;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=218;DP4=37,56,33,50;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:66:255,0,255:32,34	0/1:110:255,0,255:61,49	T	C	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000185049-NELFA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 19.4	nucleus but not nucleoli	.	PM2
L	4	3076603	rs757035717	CCAGCAGCAG	C	225	PASS	HTT	Huntingtin	exonic	NM_002111	.	nonframeshift deletion	HTT:NM_002111:exon1:c.52_60del:p.18_20del	ENST00000355072.9,ENSG00000197386.10	.	4p16.3	.	.	.	.	Score=555;Name="3261750:(CAG)n(Simple_repeat)"	rs757035717	.	.	.	.	.	.	.	.	.	.	0.22836059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.194027,13.29	.	.	INDEL;VDB=0.000712725;SGB=-0.693136;MQSB=0.493254;MQ0F=0;MQ=48;ICB=1;HOB=0.5;DP=701;DP4=5,8,57,172;IDV=38;IMF=0.526316;AN=18;AC=8	GT:PL:DP:AD	0/0:255,.,.:35:0,.	0/0:255,.,.:32:0,.	5/5:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,75,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:25:0,.,.,.,.,25,.,.,.	0/0:255,.,.:39:0,.	0/0:231,.,.:31:13,.	5/5:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,39,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:13:0,.,.,.,.,13,.,.,.	5/5:218,.,.,.,.,.,.,.,.,.,.,.,.,.,.,33,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:11:0,.,.,.,.,11,.,.,.	0/0:255,.,.:42:0,.	5/5:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:14:0,.,.,.,.,14,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG	4	0	Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive	.	.	.	1315306|8197474|8401589|8638101|8009370|7647794|8612237|15546151|17548833|2523855|9063751|16403806|15654337|8842726|18838463|7820679|8401587|7618107|19451134|15242649|8755937|16777606|7919654|9246488|7568002|19797250|8968738|8111375|16835690|8458085|9660943|11739372|14570710|17450122|11063736|10712225|12466534|9931325|8541834|7477378|7759106|26740508|8133508|9246489|20739295|24105466|10655548|20670829|2535231|7774020|7959767|16115810|8401575|27329733|8612215|8659522|26358776|18669659|19933700|19628478|8401588|21336284|14625278|8054984|7647777|15843398|26634439|12783847|20185558|12857955|7550343|11408619|12881722|8111374	GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_ESTABLISHMENT_OF_SPINDLE_ORIENTATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_VESICLE_LOCALIZATION;GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_SPINDLE_LOCALIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_ORIENTATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_VESICLE_CYTOSKELETAL_TRAFFICKING;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_LEARNING;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_RECEPTOR_ACTIVITY;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_RESPONSE_TO_AUDITORY_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_RETROGRADE_VESICLE_MEDIATED_TRANSPORT_GOLGI_TO_ER;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_MICROTUBULE_BASED_MOVEMENT;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_GOLGI_VESICLE_TRANSPORT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_TRANSPORT;GO_MECHANOSENSORY_BEHAVIOR;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_LOCALIZATION;GO_REGULATION_OF_ION_TRANSPORT;GO_ORGANELLE_LOCALIZATION;GO_RNA_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_BEHAVIOR;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_PROTEIN_PHOSPHATASE_TYPE_2A_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_GOLGI_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_VESICLE_MEMBRANE;GO_AUTOPHAGOSOME;GO_EXCITATORY_SYNAPSE;GO_CYTOPLASMIC_REGION;GO_VACUOLE;GO_CELL_PROJECTION_CYTOPLASM;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_CLATHRIN_COATED_VESICLE;GO_CENTROSOME;GO_RIBONUCLEOPROTEIN_GRANULE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_LATE_ENDOSOME;GO_NEURON_PROJECTION;GO_CYTOPLASMIC_VESICLE_PART;GO_CELL_BODY;GO_CELL_PROJECTION;GO_COATED_VESICLE;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_GOLGI_APPARATUS;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_ENDOPLASMIC_RETICULUM;GO_MICROTUBULE_ORGANIZING_CENTER;GO_SYNAPSE_PART;GO_ENDOSOME;GO_DENDRITE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_BETA_TUBULIN_BINDING;GO_ION_CHANNEL_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_DYNEIN_BINDING;GO_TUBULIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_P53_BINDING;GO_RECEPTOR_BINDING	KEGG_HUNTINGTONS_DISEASE	PID_P53_DOWNSTREAM_PATHWAY	.	.	Cytoplasmic expression in most tissues, most abundant in peripheral nerves and paneth cells of the gastrointestinal tract, and in neuronal cells of cerebral cortex.	http://www.proteinatlas.org/ENSG00000197386-HTT/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 11.1	nucleus but not nucleoli; cytoplasm	.	BP3
H	4	3534052	rs201806719	T	A	222	PASS	LRPAP1	Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)	exonic	NM_002337	.	missense SNV	LRPAP1:NM_002337:exon1:c.A88T:p.S30C	ENST00000515119.5,ENST00000509198.1,ENSG00000163956.10,ENST00000500728.2	CpG: 109	4p16.3	.	.	.	.	.	rs201806719	.	.	0.00498339	0.003	0.000599042	.	0.00020612	228020	0.00283705	16214	0.00077730	0.00264085	.	.	Alpha-2-macroglobulin receptor-associated protein, domain 1	0.046,D	0.749,P	0.938,P	1,N	0.272519,N	1.39,L	0.89,T	5.749	0.096	0.686	3.454213,23.0	.	0.0891090889144	VDB=0.030166;SGB=-0.693145;RPB=0.900879;MQB=2.12658e-09;MQSB=0.779336;BQB=0.898424;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=99;DP4=15,15,15,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:30,40	T	A	0	1	Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive	.	.	.	23830514|3266596|7535288|7959795|1400426|9207124|1712782|7789983|7538675|8654360	GO_REGULATION_OF_PROTEIN_BINDING;GO_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_BINDING;GO_EXTRACELLULAR_REGULATION_OF_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PROTEIN_FOLDING;GO_NEGATIVE_REGULATION_OF_BINDING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_LIPOPROTEIN_PARTICLE_CLEARANCE;GO_REGULATION_OF_BINDING;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_ROUGH_ENDOPLASMIC_RETICULUM;GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_CELL_SURFACE;GO_ENDOPLASMIC_RETICULUM	GO_SULFUR_COMPOUND_BINDING;GO_UNFOLDED_PROTEIN_BINDING;GO_HEPARIN_BINDING;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_RECEPTOR_BINDING;GO_CARGO_RECEPTOR_ACTIVITY;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_RECEPTOR_REGULATOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_RECEPTOR_INHIBITOR_ACTIVITY	.	PID_REELIN_PATHWAY;PID_LIS1_PATHWAY;PID_HEDGEHOG_2PATHWAY	.	.	General cytoplasmic expression, mainly with a granular pattern.	http://www.proteinatlas.org/ENSG00000163956-LRPAP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 10.0	endoplasmic reticulum	.	BP1, PM1, PM2
L	4	3768741	rs138457504	C	G	222	PASS	ADRA2C	Adrenergic, alpha-2C-, receptor	exonic	NM_000683	.	synonymous SNV	ADRA2C:NM_000683:exon1:c.C408G:p.T136T	ENST00000509482.1,ENST00000330055.6,ENSG00000184160.7	CpG: 249	4p16.3	.	.	.	.	.	rs138457504	.	.	0.0116279	0.0079	0.024361	0.0012	0.02981255	275488	0.01686645	18854	0.01846094	0.01056338	.	.	.	.	.	.	.	.	.	.	.	0.135	0.114	1.072649,11.07	.	.	VDB=0.842904;SGB=-0.693147;RPB=0.359687;MQB=1.0023e-23;MQSB=0.682619;BQB=0.574611;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=219;DP4=67,35,43,29;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/1:174:255,0,255:102,72	C	G	0	1	{Congestive heart failure and beta-blocker response, modifier of} (3)	.	.	.	7688069|10647009|17496726|2842764|8188260|9371698|12374873	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_MAPK_CASCADE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_MUSCLE_CONTRACTION;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_NOREPINEPHRINE_SECRETION;GO_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_HORMONE_LEVELS;GO_REGULATION_OF_EPIDERMAL_GROWTH_FACTOR_ACTIVATED_RECEPTOR_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_ACTIVATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_WOUND_HEALING;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_VASOCONSTRICTION;GO_REGULATION_OF_CATECHOLAMINE_SECRETION;GO_REGULATION_OF_AMINE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_AMINE_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_ADRENERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_RECEPTOR_ACTIVITY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_REGULATION_OF_SENSORY_PERCEPTION;GO_NEUROGENESIS;GO_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_VASOCONSTRICTION;GO_POSITIVE_REGULATION_OF_EPIDERMAL_GROWTH_FACTOR_ACTIVATED_RECEPTOR_ACTIVITY;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_HORMONE_SECRETION;GO_NEGATIVE_REGULATION_OF_CATECHOLAMINE_SECRETION;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_B_ACTIVITY;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REPRODUCTION;GO_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_HEMOSTASIS;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_BLOOD_CIRCULATION	GO_NEURON_PROJECTION_TERMINUS;GO_VACUOLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_AXON_PART;GO_ENDOSOME	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_ADRENERGIC_RECEPTOR_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_ADRENERGIC_RECEPTOR_BINDING;GO_CATECHOLAMINE_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_G_PROTEIN_COUPLED_AMINE_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	Macrophages in lung, glandular cells in adrenals and few squamous cells in tonsil showed strong cytoplasmic positivity. Squamous epithelium, gastrointestinal tract, decidual cells, myocytes in heart and skeletal muscles showed weak to moderate cytoplasmic positivity. Other normal tissues were negative.	http://www.proteinatlas.org/ENSG00000184160-ADRA2C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	kidney: 5.1	.	.	BP7
L	4	4249924	rs150283143	G	A	222	PASS	TMEM128	.	exonic	NM_001297551,NM_001297552	.	synonymous SNV	TMEM128:NM_001297551:exon1:c.C6T:p.D2D,TMEM128:NM_001297552:exon1:c.C6T:p.D2D	ENST00000382753.4,ENSG00000132406.11,ENST00000254742.6	CpG: 55	4p16.3	.	.	.	.	.	rs150283143	.	.	0.0149502	0.0149	0.00339457	.	0.00069387	149884	0.00922229	10518	0.00291489	0.00352113	.	.	.	.	.	.	.	.	.	.	.	-0.089	-0.168	.	.	.	VDB=0.12625;SGB=-0.693054;RPB=0.451893;MQB=0.000133154;MQSB=0.28287;BQB=0.250054;MQ0F=0;ICB=1;HOB=0.5;MQ=39;DP=244;DP4=78,14,65,16;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:68:.:.	0/0:75:.:.	0/1:58:255,0,255:30,28	0/0:50:.:.	0/1:115:255,0,255:62,53	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues showed weak to moderate cytoplasmic positivity. Adrenal gland, gall bladder, respiratory epithelia of bronchus, epididymis and seminal vesicle were strongly stained. Pancreatic islets, lymphoid tissues, breast, glial cells, stromal cells, heart and smooth muscle cells were negative.	http://www.proteinatlas.org/ENSG00000132406-TMEM128/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 28.7	.	.	BP7
L	4	9212484	rs370533531	T	G	72	PASS	USP17L10	.	exonic	NM_001256852	.	synonymous SNV	USP17L10:NM_001256852:exon1:c.T102G:p.R34R	ENST00000417945.1,ENST00000421288.3,ENSG00000231396.2	.	4p16.1	.	.	.	Score=0.98391;Name=chr4:9243188	.	rs370533531	.	.	0.00332226	0.0099	0.00878594	.	0.01969846	52796	0.04393673	3414	0.02118974	.	.	.	.	.	.	.	.	.	.	.	.	-2.656	-0.497	.	.	.	VDB=0.000139199;SGB=-0.693147;RPB=0.81967;MQB=1.38207e-30;MQSB=2.08489e-09;BQB=3.75099e-05;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=734;DP4=215,101,32,219;MinDP=6;AN=18;AC=3	GT:DP:PL:AD	0/0:6:.:.	0/1:188:100,0,255:107,81	0/1:180:106,0,255:99,81	0/0:103:.:.	0/0:50:.:.	0/0:110:.:.	0/0:105:.:.	0/0:50:.:.	0/1:199:102,0,255:110,89	T	G	0	3	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000231396-USP17L10/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP7
L	4	9213455	rs762996944	G	A	228	PASS	USP17L10	.	exonic	NM_001256852	.	missense SNV	USP17L10:NM_001256852:exon1:c.G1073A:p.S358N	ENST00000417945.1,ENST00000421288.3,ENSG00000231396.2	.	4p16.1	.	.	.	Score=0.98391;Name=chr4:9243188	.	rs762996944	.	.	.	.	.	.	0.00094672	30632	0.01507277	1924	0.00475543	0.00478469	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase;Ubiquitin specific protease domain	0.034,D	.	.	0.999993,D	0.272848,N	0.755,N	3.31,T	.	-0.463	1.673	1.876577,15.45	.	0.00277177370237	VDB=0.0350372;SGB=-0.693147;RPB=0.154321;MQB=0.0679012;MQSB=0.23053;BQB=0.37037;MQ0F=0;MQ=34;DP=117;DP4=0,2,49,32;MinDP=50;AN=8;AC=2	GT:DP:PL:AD	./.:.:.:.	0/0:50:.:.	0/0:51:.:.	./.:.:.:.	0/0:50:.:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	1/1:83:255,211,0:2,80	G	A	1	0	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000231396-USP17L10/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1
L	4	20255620	rs13103320	G	A	222	PASS	SLIT2	Slit, Drosophila, homolog of, 2	splicing	NM_001289135,NM_001289136,NM_004787	NM_001289135:exon1:c.179+3G>A;NM_001289136:exon1:c.179+3G>A;NM_004787:exon1:c.179+3G>A	.	.	ENST00000503837.5,ENST00000503823.5,ENST00000504154.5,ENST00000622093.4,ENSG00000145147.19,ENST00000273739.9	CpG: 291	4p15.31	.	.	.	.	.	rs13103320	.	.	0.0215947	0.0198	0.0297524	0.0134	0.02247195	267578	0.02163462	18720	0.01029926	0.00704225	0.0002,0	.	.	.	.	.	.	.	.	.	.	1.006	0.789	2.174397,17.34	3.13	.	VDB=0.0203051;SGB=-0.693147;RPB=0.998295;MQB=5.90514e-21;MQSB=0.981452;BQB=0.665112;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=694;DP4=133,101,150,106;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:202:255,0,255:86,116	0/0:100:.:.	0/1:288:255,0,255:148,140	G	A	0	2	Slit, Drosophila, homolog of, 2, 603746	.	.	.	11804571|10102268|10575218|15130495|17448996|26026792|9813312|10102267|10102269|11804570|19168627|20947829|11239147|11309622|10432110|23903657	GO_SPINAL_CORD_DEVELOPMENT;GO_FOREBRAIN_NEURON_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_OLFACTORY_BULB_INTERNEURON_DIFFERENTIATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELL_PART_MORPHOGENESIS;GO_NEURON_PROJECTION_EXTENSION;GO_CIRCULATORY_SYSTEM_PROCESS;GO_RESPONSE_TO_STEROID_HORMONE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_RESPONSE_TO_CORTICOSTEROID;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_RETINAL_GANGLION_CELL_AXON_GUIDANCE;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_NEURON_PROJECTION_EXTENSION_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ROUNDABOUT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_TISSUE_MORPHOGENESIS;GO_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_AXON_GUIDANCE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_OVULATION_CYCLE;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_LAMELLIPODIUM_ASSEMBLY;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_FOREBRAIN_DEVELOPMENT;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GROWTH;GO_FOREBRAIN_GENERATION_OF_NEURONS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_FOREBRAIN_CELL_MIGRATION;GO_CELL_MOTILITY;GO_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION;GO_ENDOTHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MOTOR_NEURON_AXON_GUIDANCE;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TAXIS;GO_NEGATIVE_REGULATION_OF_AXON_GUIDANCE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_SPROUTING_ANGIOGENESIS;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_SUBSTRATE_INDEPENDENT_TELENCEPHALIC_TANGENTIAL_MIGRATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_RESPONSE_TO_KETONE;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_OVULATION_CYCLE_PROCESS;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_TISSUE_MIGRATION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_CHEMOTAXIS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_GRANULOCYTE_CHEMOTAXIS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_FEMALE_SEX_DIFFERENTIATION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_CENTRAL_NERVOUS_SYSTEM_PROJECTION_NEURON_AXONOGENESIS;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEUROGENESIS;GO_APOPTOTIC_PROCESS_INVOLVED_IN_DEVELOPMENT;GO_GROWTH;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_HEAD_DEVELOPMENT;GO_OLFACTORY_LOBE_DEVELOPMENT;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_SEX_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_REGULATION_OF_LAMELLIPODIUM_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_DEVELOPMENTAL_CELL_GROWTH;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_TUBE_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_SUBSTRATE_DEPENDENT_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_CEREBRAL_CORTEX_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_OLFACTORY_BULB_INTERNEURON_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_AXONOGENESIS;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_MESONEPHROS_DEVELOPMENT;GO_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_NEUTROPHIL_MIGRATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_VASCULAR_PERMEABILITY;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_AXON_EXTENSION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_TISSUE_DEVELOPMENT;GO_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_MONOCYTE_CHEMOTAXIS;GO_NEGATIVE_CHEMOTAXIS;GO_DEVELOPMENTAL_GROWTH;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_AXONOGENESIS;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_NEUTROPHIL_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE	GO_SULFUR_COMPOUND_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_HEPARIN_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_GTPASE_INHIBITOR_ACTIVITY;GO_EXTRACELLULAR_MATRIX_BINDING;GO_CALCIUM_ION_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_PROTEOGLYCAN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ENZYME_INHIBITOR_ACTIVITY;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_GLYCOPROTEIN_BINDING;GO_LAMININ_BINDING;GO_RECEPTOR_BINDING	KEGG_AXON_GUIDANCE	PID_GLYPICAN_1PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_NETRIN1_SIGNALING	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000145147-SLIT2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 27.9	nucleoli; vesicles; cytoplasm	.	BS2, PP3
H	4	25265392	rs141109382	TGAA	T	222	PASS	PI4K2B	Phosphatidylinositol 4-kinase, type 2, beta	exonic	NM_018323	.	nonframeshift deletion	PI4K2B:NM_018323:exon7:c.1000_1002del:p.334_334del	ENSG00000281028.1,ENST00000512921.4,ENST00000264864.7,ENSG00000038210.12	.	4p15.2	.	.	Score=847;Name=V$CDP_02	.	.	rs141109382	.	.	0.0215947	0.0169	0.00339457	0.0121	0.00167167	275174	0.02263748	18730	0.03518663	0.02557319	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142633,4.767	.	.	INDEL;VDB=0.153693;SGB=-0.670168;MQSB=0.980199;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=22;DP4=7,2,8,2;IDV=11;IMF=0.5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:19:255,0,255:9,10	TGAA	T	0	1	Phosphatidylinositol 4-kinase, type 2, beta, 612101	.	.	.	11923287|18316730|12324459	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_PHOSPHORYLATION	.	GO_KINASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_EARLY_ENDOSOME_MEMBRANE;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	A majority of normal tissues displayed moderate to strong cytoplasmic immunoreactivity, in some cases with a granular pattern. Strongest positivity was observed in glandular epithelia of the gastrointestinal tract and in lymphoid tissues.	http://www.proteinatlas.org/ENSG00000038210-PI4K2B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	duodenum: 28.4	cytoplasm	.	BS2, PM4
H	4	39271653	rs75621037	A	G	222	PASS	WDR19	WD repeat-containing protein 19	exonic	NM_001317924,NM_025132	.	missense SNV	WDR19:NM_001317924:exon30:c.A2936G:p.Q979R,WDR19:NM_025132:exon31:c.A3416G:p.Q1139R	ENSG00000157796.17,ENST00000399820.7,ENST00000512095.5,ENST00000506869.5	.	4p14	.	.	.	.	.	rs75621037	Uncertain significance|Uncertain significance;Cranioectodermal_dysplasia|Jeune_thoracic_dystrophy;RCV000276391.1|RCV000354756.1;MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT;CN119432:254093009|C0265275:ORPHA474:75049004	.	0.0199336	0.0188	0.00379393	.	0.00178975	277134	0.02550912	18856	0.02118150	0.02640845	.	0.0762	.	0.384,T	0.02,B	0.013,B	0.999999,D	0.000000,D	1.625,L	-0.02,T	15.573	2.076	9.081	2.427894,19.00	5.48	.	VDB=0.0349143;SGB=-0.692831;RPB=0.804377;MQB=1.16686e-06;MQSB=0.708644;BQB=0.922345;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=121;DP4=28,18,29,15;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:48:255,0,255:24,24	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:42:255,0,255:22,20	A	G	0	2	?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive	.	.	.	22019273|23683095|19430947|23559409|12906858	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_CELL_PROJECTION_ASSEMBLY;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MICROTUBULE_BASED_PROCESS;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_EAR_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_ORGAN_MORPHOGENESIS;GO_APPENDAGE_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_PROTEIN_TRANSPORT_ALONG_MICROTUBULE;GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT;GO_DORSAL_VENTRAL_NEURAL_TUBE_PATTERNING;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_EAR_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_SEX_DIFFERENTIATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_SMOOTHENED_SIGNALING_PATHWAY;GO_EYE_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_PROTEIN_COMPLEX_LOCALIZATION;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_REPRODUCTION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PATTERN_SPECIFICATION_PROCESS;GO_SOMITE_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGIONALIZATION;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_EMBRYONIC_CAMERA_TYPE_EYE_DEVELOPMENT;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_NEURAL_TUBE_PATTERNING;GO_TISSUE_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS;GO_RECEPTOR_CLUSTERING	GO_CILIARY_TIP;GO_MOTILE_CILIUM;GO_CILIARY_PART;GO_CYTOSKELETON;GO_PHOTORECEPTOR_CONNECTING_CILIUM;GO_INTRACILIARY_TRANSPORT_PARTICLE;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_CILIUM	.	.	.	.	.	A majority of normal tissues showed weak to moderate cytoplasmic positivity with additional membranous staining in several cases, for examples the intestine and breast. Hepatocytes were strongly stained. The lung, testis, glial cells, spleen, most cells of lymphoid tissues, skeletal and smooth muscle cells were negative.	http://www.proteinatlas.org/ENSG00000157796-WDR19/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 18.1	nucleus but not nucleoli	.	.
L	4	41984541	rs755822213	C	G	222	PASS	DCAF4L1	.	exonic	NM_001029955	.	synonymous SNV	DCAF4L1:NM_001029955:exon1:c.C732G:p.R244R	ENST00000333141.6,ENSG00000182308.6	.	4p13	.	.	.	.	.	rs755822213	.	.	.	.	.	.	0.00006500	246170	0.00092764	17248	0.00058298	0.00176056	.	.	.	.	.	.	.	.	.	.	.	-0.326	0.167	0.985563,10.58	.	.	VDB=0.185651;SGB=-0.693147;RPB=0.947438;MQB=3.52216e-31;MQSB=0.967817;BQB=0.380177;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=277;DP4=64,50,61,51;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/1:226:255,0,255:114,112	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic and nuclear expression in spermatogonia.	http://www.proteinatlas.org/ENSG00000182308-DCAF4L1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skeletal muscle: 0.1	.	.	BP7, PM2
M	4	44652018	rs377726440	G	A	221	PASS	YIPF7	.	exonic	NM_182592	.	missense SNV	YIPF7:NM_182592:exon2:c.C172T:p.L58F	ENSG00000177752.14,ENST00000415895.8,ENST00000502794.1,ENST00000508947.1,ENST00000332990.5,ENST00000510035.5	.	4p12	.	.	Score=814;Name=V$OCT1_01	.	.	rs377726440	.	.	0.00996678	0.0069	0.00159744	.	0.00025502	219590	0.00379507	14756	0.00174893	0.00176367	.	-0.0674	.	0.703,T	0.01,B	0.009,B	1,N	0.250279,N	1.2,L	0.97,T	2.8054	-0.522	-0.096	.	.	.	VDB=0.32022;SGB=-0.691153;RPB=0.914166;MQB=0.00152773;MQSB=0.997978;BQB=0.862128;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=32;DP4=5,2,14,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:12:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/1:25:255,0,142:7,18	G	A	0	1	.	.	.	.	.	.	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	RNA data suggests selective expression in skeletal muscle.	http://www.proteinatlas.org/ENSG00000177752-YIPF7/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 0.5	.	.	BP4
H	4	48549607	rs144142828	A	G	194	PASS	FRYL	.	exonic	NM_015030	.	missense SNV	FRYL:NM_015030:exon41:c.T5068C:p.F1690L	ENST00000358350.8,ENST00000514617.5,ENST00000502925.1,ENST00000507873.6,ENST00000503238.5,ENSG00000075539.13	.	4p11	.	.	.	.	.	rs144142828	.	.	0.0498339	0.0437	0.00898562	0.0002	0.00374629	262126	0.05014406	18048	0.04391761	0.03873239	.	0.4821	.	0.324,T	0.002,B	0.002,B	1,D	0.000042,N	0.41,N	1.86,T	9.558	0.369	5.758	.	2.97	.	VDB=0.128791;SGB=-0.688148;RPB=0.997597;MQB=5.6674e-05;MQSB=1;BQB=0.312075;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=86;DP4=32,3,31,3;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:34:222,0,226:19,15	0/0:30:.:.	0/1:35:227,0,221:16,19	A	G	0	2	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_NEUROGENESIS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_ACTIN_CYTOSKELETON_REORGANIZATION;GO_CELL_DEVELOPMENT	GO_CYTOPLASMIC_REGION;GO_SITE_OF_POLARIZED_GROWTH;GO_CELL_CORTEX	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000075539-FRYL/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	colon: 33.4	cytoplasm; cytoskeleton (microtubules); cytoskeleton (cytokinetic bridge)	.	BS1
H	4	54139984	.	G	A	217	PASS	SCFD2	.	splicing	NM_152540	NM_152540:exon4:c.1311+9C>T	.	.	ENST00000388940.8,ENST00000401642.7,ENSG00000184178.15,ENST00000611795.1	.	4q12	.	.	.	.	.	.	.	.	.	.	.	.	0.00000417	239956	0.00005871	17032	0.00019433	.	.	-0.5537	.	.	.	.	.	.	.	.	.	0.353	2.692	.	.	.	VDB=0.601396;SGB=-0.683931;RPB=0.553377;MQB=0.00159037;MQSB=0.264394;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=35;DP4=7,5,10,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:40:.:.	0/0:30:.:.	0/0:31:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:35:.:.	0/1:25:250,0,255:12,13	G	A	0	1	.	.	.	.	.	GO_SECRETION_BY_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_MEMBRANE_DOCKING;GO_SECRETION;GO_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS;GO_PROTEIN_LOCALIZATION;GO_EXOCYTOSIS;GO_VESICLE_DOCKING	.	.	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000184178-SCFD2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	smooth muscle: 8.6	nucleus	.	PM2
L	4	66280048	rs183969601	G	A	222	PASS	EPHA5	Ephrin receptor EphA5	exonic	NM_001281765,NM_001281766,NM_001281767,NM_001318761,NM_004439,NM_182472	.	synonymous SNV	EPHA5:NM_001281765:exon7:c.C1641T:p.G547G,EPHA5:NM_001281766:exon7:c.C1641T:p.G547G,EPHA5:NM_001281767:exon7:c.C1641T:p.G547G,EPHA5:NM_001318761:exon7:c.C1434T:p.G478G,EPHA5:NM_004439:exon7:c.C1641T:p.G547G,EPHA5:NM_182472:exon7:c.C1641T:p.G547G	ENST00000511294.1,ENST00000273854.7,ENST00000432638.6,ENSG00000145242.13,ENST00000622150.4,ENST00000613740.4,ENST00000354839.8	.	4q13.1	.	.	.	.	.	rs183969601	.	.	.	.	.	.	0.00001807	276696	0.00026599	18798	.	.	.	-0.7148	.	.	.	.	.	.	.	.	.	0.925	0.327	.	4.44	.	VDB=0.620616;SGB=-0.692914;RPB=0.934728;MQB=3.45747e-07;MQSB=0.997661;BQB=0.383284;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=67;DP4=22,4,22,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:51:255,0,255:26,25	G	A	0	1	Ephrin receptor EphA5, 600004	.	.	.	7898931|17448994|7504232|11804564|7528718|8145300	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CREB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_SECRETION;GO_HIPPOCAMPUS_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PALLIUM_DEVELOPMENT;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_EPHRIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_INSULIN_SECRETION_INVOLVED_IN_CELLULAR_RESPONSE_TO_GLUCOSE_STIMULUS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_NEURON_PROJECTION_GUIDANCE;GO_REGULATION_OF_TRANSPORT;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CAMP_MEDIATED_SIGNALING	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_ROUGH_ENDOPLASMIC_RETICULUM;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_NEURON_PROJECTION;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_EPHRIN_RECEPTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE	PID_EPHA_FWDPATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000145242-EPHA5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 2.0	.	.	PM2
H	4	69203131	.	G	T	222	PASS	YTHDC1	TYH domain-containing protein 1	exonic	NM_001031732,NM_001330698,NM_133370	.	missense SNV	YTHDC1:NM_001031732:exon4:c.C497A:p.S166Y,YTHDC1:NM_001330698:exon4:c.C497A:p.S166Y,YTHDC1:NM_133370:exon4:c.C497A:p.S166Y	ENST00000344157.8,ENST00000355665.7,ENST00000579690.5,ENSG00000083896.12	.	4q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1733	.	0.0,D	0.982,D	0.997,D	0.999993,D	0.000384,D	1.935,L	1.44,T	19.4963	2.596	6.550	2.662921,20.6	5.55	0.0537425950823	VDB=0.699772;SGB=-0.692717;RPB=0.553874;MQB=7.93786e-09;MQSB=0.918599;BQB=0.631953;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=66;DP4=15,14,12,11;MinDP=20;AN=18;AC=1	GT:DP:PL:AD	0/0:20:.:.	0/0:55:.:.	0/0:37:.:.	0/0:50:.:.	0/0:34:.:.	0/0:51:.:.	0/0:31:.:.	0/0:50:.:.	0/1:52:255,0,255:29,23	G	T	0	1	TYH domain-containing protein 1, 617283	.	.	.	10564280|27919081|27919077|11853319	GO_REGULATION_OF_MRNA_METABOLIC_PROCESS;GO_MRNA_SPLICE_SITE_SELECTION;GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME;GO_MRNA_METABOLIC_PROCESS;GO_SPLICEOSOMAL_COMPLEX_ASSEMBLY;GO_RNA_SPLICING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_RNA_SPLICING	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000083896-YTHDC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 72.9	nucleus but not nucleoli; plasma membrane	.	PM2, PP3
L	4	69535968	.	G	T	222	PASS	UGT2B15	UDP-glucuronyltransferase, family 2, beta-15	exonic	NM_001076	.	stopgain	UGT2B15:NM_001076:exon1:c.C369A:p.Y123X	ENSG00000196620.9,ENST00000338206.5	.	4q13.2	.	.	.	Score=0.937011;Name=chr4:69370648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,A	0.885901,U	.	.	5.865	-0.065	-0.001	4.671583,24.5	.	.	VDB=0.625571;SGB=-0.693141;RPB=0.950797;MQB=1.29964e-10;MQSB=0.0197409;BQB=0.829321;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=90;DP4=25,8,16,21;MinDP=39;AN=18;AC=1	GT:DP:PL:AD	0/0:43:.:.	0/0:50:.:.	0/0:39:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:33,37	G	T	0	1	UDP-glucuronyltransferase, family 2, beta-15, 600069	.	.	.	2116769|12376738|19572376|7835904	GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_URONIC_ACID_METABOLIC_PROCESS;GO_FLAVONOID_METABOLIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_CELLULAR_GLUCURONIDATION	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_RETINOIC_ACID_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_ISOPRENOID_BINDING;GO_ORGANIC_ACID_BINDING;GO_GLUCURONOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY;GO_LIPID_BINDING;GO_MONOCARBOXYLIC_ACID_BINDING	KEGG_PENTOSE_AND_GLUCURONATE_INTERCONVERSIONS;KEGG_ASCORBATE_AND_ALDARATE_METABOLISM;KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000196620-UGT2B15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 54.9	.	.	PM2
H	4	71555361	rs150475938	C	T	222	PASS	UTP3	UTP3, S. crevisiae, homolog of	exonic	NM_020368	.	missense SNV	UTP3:NM_020368:exon1:c.C967T:p.R323C	ENST00000254803.3,ENSG00000132467.3	.	4q13.3	.	.	Score=810;Name=V$BRN2_01	.	.	rs150475938	.	.	0.00498339	0.0069	0.00139776	.	0.00079373	277174	0.01107813	18866	0.00777303	0.01236749	.	.	.	0.053,T	0.052,B	0.412,B	1,D	0.000004,D	2.56,M	1.47,T	8.9263	2.542	1.818	3.192703,22.7	4.62	.	VDB=0.0468329;SGB=-0.692976;RPB=0.779089;MQB=1.5193e-05;MQSB=0.323584;BQB=0.931456;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=65;DP4=19,6,16,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:38:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:51:255,0,255:25,26	C	T	0	1	UTP3, S. crevisiae, homolog of, 611614	.	.	.	17015728|11404095	GO_CHROMOSOME_ORGANIZATION;GO_RIBOSOME_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA;GO_RRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_CHROMATIN_MODIFICATION;GO_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA_;GO_NCRNA_METABOLIC_PROCESS;GO_CHROMATIN_ORGANIZATION;GO_HEAD_DEVELOPMENT;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	GO_PRERIBOSOME;GO_SMALL_SUBUNIT_PROCESSOME;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Normal tissues generally showed moderate nucleolar staining which in some cells were combined with cytoplasmic staining. Squamous epithelium and neuronal cells displayed strong immunoreactivity.	http://www.proteinatlas.org/ENSG00000132467-UTP3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 27.1	nucleoli	.	.
H	4	87556416	rs201697573	G	A	222	PASS	PTPN13	Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase)	exonic	NM_006264,NM_080683,NM_080684,NM_080685	.	missense SNV	PTPN13:NM_006264:exon2:c.G7A:p.V3M,PTPN13:NM_080683:exon2:c.G7A:p.V3M,PTPN13:NM_080684:exon2:c.G7A:p.V3M,PTPN13:NM_080685:exon2:c.G7A:p.V3M	ENST00000507902.5,ENST00000502971.5,ENST00000427191.6,ENSG00000163629.12,ENST00000316707.10,ENST00000436978.5,ENST00000511467.1,ENST00000411767.6	.	4q21.3	.	.	Score=910;Name=V$OCT1_02	.	.	rs201697573	.	.	0.00166113	0.001	0.000199681	8.2e-05	0.00023845	255822	0.00177467	17468	0.00116595	0.00440141	.	-0.1649	KIND	0.001,D	1.0,D	1.0,D	0.999993,D	0.000316,D	2.805,M	1.41,T	14.4557	1.379	9.041	6.482369,30	4.81	0.0653736528939	VDB=0.586092;SGB=-0.692976;RPB=0.995784;MQB=3.40315e-07;MQSB=0.983828;BQB=0.730321;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=60;DP4=12,7,18,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:45:255,0,255:19,26	G	A	0	1	Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase), 600267	.	.	.	8071359|8824809|8287977|7929060|8893825|15155950|12436199	GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION	GO_NEURON_PART;GO_CYTOSKELETON;GO_NEURON_PROJECTION;GO_LAMELLIPODIUM;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_LEADING_EDGE	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_KINASE_BINDING	.	PID_FCER1_PATHWAY;PID_EPHRINB_REV_PATHWAY	BIOCARTA_FAS_PATHWAY	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000163629-PTPN13/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 38.9	.	.	BS2, PM1, PP3
L	4	89385130	rs78613619	G	C	222	PASS	HERC5	HECT domain and RCC1-like domain 5	exonic	NM_016323	.	missense SNV	HERC5:NM_016323:exon6:c.G905C:p.C302S	ENST00000264350.7,ENSG00000138646.8	.	4q22.1	.	.	.	.	.	rs78613619	.	.	0.0348837	0.0446	0.0163738	0.0005	0.00741764	276638	0.04481733	18832	0.04469491	0.04137324	.	0.0234	.	0.0,D	0.997,D	1.0,D	0.995866,D	0.000001,D	2.855,M	-2.52,D	17.8931	2.625	8.494	6.083672,28.2	4.75	.	VDB=0.444931;SGB=-0.670168;RPB=0.85666;MQB=0.00739675;MQSB=0.966585;BQB=0.748477;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=9,21,12,11;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:234,0,255:14,10	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:29:255,0,255:16,13	G	C	0	2	HECT domain and RCC1-like domain 5, 608242	.	.	.	15676274|10581175|16815975	GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_DEFENSE_RESPONSE_TO_VIRUS;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_PROTEIN_POLYUBIQUITINATION;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_CYCLE;GO_PROTEIN_UBIQUITINATION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_RESPONSE_TO_VIRUS;GO_PROTEOLYSIS;GO_IMMUNE_EFFECTOR_PROCESS	GO_PERINUCLEAR_REGION_OF_CYTOPLASM	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	.	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_INTERFERON_SIGNALING;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Cytoplasmic expression in seminiferous ducts in testis.	http://www.proteinatlas.org/ENSG00000138646-HERC5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	endometrium: 14.3	.	.	BS1, PP3
L	4	89589204	rs772623846	G	A	222	PASS	HERC3	HECT domain and RCC1-like domain 3	exonic	NM_001271602,NM_014606	.	synonymous SNV	HERC3:NM_001271602:exon13:c.G1251A:p.R417R,HERC3:NM_014606:exon14:c.G1605A:p.R535R	ENSG00000138641.15,ENST00000504994.1,ENST00000402738.5,ENST00000264345.7,ENST00000470815.1	.	4q22.1	.	.	.	.	.	rs772623846	.	.	.	.	.	.	0.00009765	276508	0.00137873	18858	0.00213758	0.00264085	.	2.0201	.	.	.	.	.	.	.	.	.	0.163	-0.146	0.940724,10.32	.	.	VDB=0.0868613;SGB=-0.693139;RPB=0.953687;MQB=5.78648e-09;MQSB=0.982689;BQB=0.883114;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=190;DP4=37,22,47,27;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:61:255,0,255:25,36	0/0:50:.:.	0/1:72:255,0,255:34,37	G	A	0	2	HECT domain and RCC1-like domain 3, 605200	.	.	.	10516438|15676274|7584026	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_INTRACELLULAR_VESICLE	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_LIGASE_ACTIVITY	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000138641-HERC3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 19.4	cytoplasm	.	BP7, PM2
L-	4	90833131	rs139849307	A	G	222	PASS	MMRN1	Multimerin 1	exonic	NM_007351	.	synonymous SNV	MMRN1:NM_007351:exon3:c.A780G:p.Q260Q	ENST00000394980.5,ENST00000508372.1,ENSG00000138722.9,ENST00000264790.6	.	4q22.1	.	.	Score=781;Name=V$MEF2_03	.	.	rs139849307	.	.	0.00996678	0.0069	0.00139776	.	0.00049619	272072	0.00728784	18524	0.00777907	0.00528169	.	0.3457	.	.	.	.	.	.	.	.	.	1.070	2.013	.	3.98	.	VDB=0.0118709;SGB=-0.693145;RPB=0.614331;MQB=4.11589e-13;MQSB=0.998856;BQB=0.691102;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=110;DP4=22,18,25,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:81:255,0,255:40,41	A	G	0	1	Multimerin 1, 601456	.	.	.	8514871|7642592|7629143|9372017|8652809|2016319|12221002|6480825	GO_SECRETION_BY_CELL;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_VESICLE_MEDIATED_TRANSPORT;GO_WOUND_HEALING;GO_SECRETION;GO_EXOCYTOSIS;GO_PLATELET_DEGRANULATION;GO_REGULATED_EXOCYTOSIS;GO_BIOLOGICAL_ADHESION;GO_HEMOSTASIS	GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART	GO_CALCIUM_ION_BINDING	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Megakaryocytes displayed strong cytoplasmic immunoreactivity. Breast and gall bladder were moderately stained while the remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000138722-MMRN1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 28.9	.	.	BS2
H	4	100443648	rs539341725	C	T	177	PASS	C4orf17	.	splicing	NM_032149	NM_032149:exon3:c.128-9C>T	.	.	ENST00000514652.5,ENST00000477187.1,ENST00000503257.1,ENST00000326581.8,ENSG00000138813.9	.	4q23	.	.	.	.	.	rs539341725	.	.	0.00166113	0.001	0.000199681	.	0.00003713	242362	0.00052497	17144	0.00038865	.	0,0	1.3008	.	.	.	.	.	.	.	.	.	0.035	-0.087	.	.	.	VDB=0.0761888;SGB=-0.692067;RPB=0.903707;MQB=0.945959;MQSB=1;BQB=0.341108;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=47;DP4=15,0,19,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:35:210,0,194:15,20	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000138813-C4orf17/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM2
H	4	104007666	rs371187119	TTGA	T	200	PASS	BDH2	.	exonic	NM_020139	.	nonframeshift deletion	BDH2:NM_020139:exon6:c.386_388del:p.129_130del	ENST00000296424.8,ENST00000511354.5,ENSG00000164039.14,ENST00000464039.5,ENST00000506521.5,ENST00000492366.5,ENST00000504285.5,ENST00000475058.5	.	4q24	.	.	.	.	.	rs371187119	.	.	0.0199336	0.0208	0.00439297	.	0.00221044	274154	0.03106287	18704	0.02197588	0.02288732	.	.	.	.	.	.	.	.	.	.	.	.	.	3.466434,17.75	.	.	INDEL;VDB=0.00438619;SGB=-0.616816;MQSB=0.974597;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=31;DP4=6,6,4,10;IDV=9;IMF=0.6;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:9:205,0,115:3,6	0/0:10:.:.	0/1:17:233,0,255:9,8	TTGA	T	0	2	.	.	.	.	.	GO_LIPID_MODIFICATION;GO_FATTY_ACID_CATABOLIC_PROCESS;GO_EPITHELIUM_DEVELOPMENT;GO_SECONDARY_METABOLITE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_FATTY_ACID_BETA_OXIDATION;GO_HEME_METABOLIC_PROCESS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_TRANSITION_METAL_ION_HOMEOSTASIS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_NONRIBOSOMAL_PEPTIDE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_TETRAPYRROLE_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_ION_HOMEOSTASIS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_KETONE_BODY_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_SECONDARY_METABOLIC_PROCESS;GO_LIPID_OXIDATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_TISSUE_DEVELOPMENT;GO_COFACTOR_BIOSYNTHETIC_PROCESS;GO_IRON_ION_HOMEOSTASIS;GO_PIGMENT_METABOLIC_PROCESS	GO_MITOCHONDRION	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_NAD_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY;GO_COENZYME_BINDING	KEGG_BUTANOATE_METABOLISM	.	.	.	Cytoplasmic and nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000164039-BDH2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 100.9	cytoplasm	.	PM4
L	4	119204161	rs578082338	A	G	222	PASS	PRSS12	Protease, serine, 12	exonic	NM_003619	.	synonymous SNV	PRSS12:NM_003619:exon12:c.T2145C:p.H715H	ENST00000510903.1,ENST00000296498.3,ENSG00000164099.3	.	4q26	.	.	.	.	.	rs578082338	.	.	0	.	.	.	0.00003249	246264	0.00046382	17248	0.00058298	.	.	0.0861	.	.	.	.	.	.	.	.	.	0.080	0.224	.	2.15	.	VDB=0.367644;SGB=-0.69168;RPB=0.990873;MQB=8.4096e-06;MQSB=0.830405;BQB=0.694941;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=50;DP4=12,9,14,5;MinDP=27;AN=18;AC=1	GT:DP:PL:AD	0/0:27:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:40:255,0,255:21,19	A	G	0	1	Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive	.	.	.	16902143|9245503|10343120|12925575|12459588|9540828|9344839	GO_SECRETION_BY_CELL;GO_PROTEIN_MATURATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_SECRETION;GO_EXOCYTOSIS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS;GO_ZYMOGEN_ACTIVATION;GO_PROTEOLYSIS	GO_NEURON_PROJECTION_TERMINUS;GO_NEURON_PART;GO_AXON;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_AXON_PART;GO_TERMINAL_BOUTON;GO_SYNAPSE_PART;GO_DENDRITE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in a subset of cells in intestinal tract, Purkinje cells and neuronal cells.	http://www.proteinatlas.org/ENSG00000164099-PRSS12/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 10.4	cytoskeleton (actin filaments); nucleus	.	PM2
L	4	123265643	.	T	C	188	PASS	KIAA1109	KIAA1109 gene	exonic	NM_015312	.	synonymous SNV	KIAA1109:NM_015312:exon72:c.T12660C:p.G4220G	ENST00000388738.7,ENST00000438707.5,ENSG00000138688.15,ENST00000442707.1,ENST00000306802.8,ENST00000264501.8	.	4q27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6668	.	.	.	.	1,D	.	.	.	5.5528	-0.444	-0.504	.	.	.	VDB=0.242987;SGB=-0.670168;RPB=0.85666;MQB=0.000224867;MQSB=0.921053;BQB=0.972944;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=28;DP4=7,7,4,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/1:24:221,0,255:14,10	T	C	0	1	KIAA1109 gene, 611565	.	.	.	20844206|10470851|17558408|19640479	GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION	.	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000138688-KIAA1109/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 33.5	nucleus but not nucleoli; centrosome	.	BP7, PM2
L	4	126412443	rs201832398	A	G	222	PASS	FAT4	FAT tumor suppressor, Drosophila, homolog of, 4	exonic	NM_001291285,NM_001291303,NM_024582	.	synonymous SNV	FAT4:NM_001291285:exon17:c.A14469G:p.P4823P,FAT4:NM_001291303:exon17:c.A14472G:p.P4824P,FAT4:NM_024582:exon17:c.A14466G:p.P4822P	ENST00000335110.5,ENST00000394329.7,ENSG00000196159.11	.	4q28.1	.	.	.	.	.	rs201832398	.	.	0.00498339	0.003	0.000599042	.	0.00007951	276678	0.00111418	18848	0.00097163	0.00088028	.	.	.	.	.	.	.	.	.	.	.	-0.710	-1.979	.	.	.	VDB=0.228087;SGB=-0.693141;RPB=0.797396;MQB=3.82307e-09;MQSB=0.778995;BQB=0.3681;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=77;DP4=15,12,27,10;MinDP=49;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:51:.:.	0/0:50:.:.	0/0:49:.:.	0/0:51:.:.	0/0:52:.:.	0/1:64:255,0,255:27,37	A	G	0	1	Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive; Van Maldergem syndrome 2, 615546 (3), Autosomal recessive	.	.	.	14564208|24913602|24056717|2624276|15003449|16865240|22473091|22469822|18604206	GO_NEURON_DEVELOPMENT;GO_EPITHELIUM_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_HIPPO_SIGNALING;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_ORGAN_MATURATION;GO_INNER_EAR_RECEPTOR_STEREOCILIUM_ORGANIZATION;GO_FOREBRAIN_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_CELL_ADHESION;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_MATURATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_KIDNEY_DEVELOPMENT;GO_BONE_DEVELOPMENT;GO_EAR_DEVELOPMENT;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_HEART_MORPHOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_RENAL_TUBULE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_BRANCHING_INVOLVED_IN_URETERIC_BUD_MORPHOGENESIS;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_MESONEPHRIC_TUBULE_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_OSSIFICATION;GO_HEAD_DEVELOPMENT;GO_MECHANORECEPTOR_DIFFERENTIATION;GO_HETEROPHILIC_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_REGULATION_OF_METANEPHROS_DEVELOPMENT;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_MEMBRANE_ORGANIZATION;GO_TUBE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_KIDNEY_MORPHOGENESIS;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_NEPHRON_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_MESONEPHROS_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_MATURATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_BONE_MATURATION;GO_INNER_EAR_RECEPTOR_CELL_DEVELOPMENT	GO_APICAL_PART_OF_CELL	GO_CALCIUM_ION_BINDING	.	.	.	.	Most of the normal cells displayed moderate cytoplasmic positivity. Exocrine pancreas, upper stomach, small intestine, renal tubules, melanocytes, neuronal cells, placental decidual cells and fraction of germinal center cells in lymphoid tissues were strongly stained. Spleen, heart and smooth muscle cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000196159-FAT4/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 4.0	.	.	BP7, PM2
L	4	140811063	rs774201781	TTGCTGCTGCTGC	T	228	PASS	MAML3	Mastermind-like 3	exonic	NM_018717	.	frameshift deletion	MAML3:NM_018717:exon3:c.1513_1514del:p.Q505fs	ENST00000502696.1,ENST00000398940.1,ENST00000509479.6,ENSG00000196782.12	.	4q31.1	.	.	.	.	Score=666;Name="3494713:(CTG)n(Simple_repeat)"	rs774201781	.	.	.	.	.	.	0.01021625	181182	0.00159771	11892	0.66221602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.663946,7.557	.	.	INDEL;VDB=4.04355e-07;SGB=-0.693145;MQSB=0.987912;MQ0F=0;MQ=49;DP=717;DP4=1,0,299,179;IDV=62;IMF=0.681159;AN=18;AC=12	GT:PL:DP:AD	0/0:255,.,.:40:0,.	3/2:255,.,.,255,.,255,255,.,.,198:65:0,.,24,40	3/3:255,.,.,.,.,.,178,.,.,0:62:0,.,.,59	3/3:255,.,.,.,.,.,151,.,.,0:52:0,.,.,50	3/3:255,.,.,.,.,.,106,.,.,0:42:1,.,.,41	3/2:255,.,.,255,.,255,255,.,.,255:45:0,.,14,26	3/2:255,.,.,255,.,255,255,.,.,171:59:0,.,21,36	3/2:255,.,.,255,.,255,255,.,.,194:50:0,.,20,29	3/3:255,.,.,.,.,.,190,.,.,0:64:0,.,.,63	TTGCTGCTGCTGC	TTGC,TTGCTGCTGC,T	4	4	Mastermind-like 3, 608991	.	.	.	12386158|11347906|12370315	GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NOTCH_SIGNALING_PATHWAY;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	.	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_NOTCH	General cytoplasmic and nuclear expression.	http://www.proteinatlas.org/ENSG00000196782-MAML3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 7.5	nucleus but not nucleoli	.	.
H	4	147560450	rs764871244	C	CTGG	228	PASS	POU4F2	.	exonic	NM_004575	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.158_159insTGG:p.A53delinsAG	ENST00000584185.1,ENSG00000151615.3,ENST00000281321.3,ENSG00000264323.1	CpG: 206	4q31.22	.	.	.	.	.	rs764871244	.	.	.	.	.	0.0155	0.00537849	115274	0.02328878	4938	0.04333463	0.03785211	.	.	.	.	.	.	.	.	.	.	.	.	.	1.105148,9.509	.	.	INDEL;VDB=0.806047;SGB=-0.693147;MQSB=0.996817;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=805;DP4=110,132,223,200;IDV=76;IMF=0.331878;MinDP=100;AN=18;AC=5	GT:PL:DP:AD	0/1:255,0,255:140:64,76	0/1:255,0,255:185:102,83	1/1:255,19,0:195:31,164	0/0:.:101:.	0/0:.:137:.	0/0:.:100:.	0/0:.:103:.	0/0:.:100:.	0/1:255,0,255:145:45,100	C	CTGG	1	3	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEURON_PROJECTION_EXTENSION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_RETINAL_GANGLION_CELL_AXON_GUIDANCE;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_NEURON_PROJECTION_DEVELOPMENT;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_TAXIS;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_GROWTH;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_GAMETE_GENERATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_STEROID_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_EYE_DEVELOPMENT;GO_DEVELOPMENTAL_CELL_GROWTH;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_NEUROMUSCULAR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_REPRODUCTION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_AXON_EXTENSION;GO_CELL_GROWTH;GO_DEVELOPMENTAL_GROWTH;GO_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_P53_DOWNSTREAM_PATHWAY;PID_ERA_GENOMIC_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000151615-POU4F2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BS1, PM4
L	4	147560476	.	G	GGCA	203	PASS	POU4F2	.	exonic	NM_004575	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.184_185insGCA:p.G62delinsGS	ENST00000584185.1,ENSG00000151615.3,ENSG00000264323.1,ENST00000281321.3	CpG: 206	4q31.22	.	.	Score=837;Name=V$EGR1_01	.	Score=381;Name="3505707:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00025867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.318971;SGB=-0.693147;MQSB=0.997522;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=209;DP4=25,24,66,50;IDV=2;IMF=0.00956938;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:52:.:.	0/0:50:.:.	0/0:101:.:.	0/0:87:.:.	0/0:100:.:.	0/1:165:236,0,255:49,116	G	GGCA	0	1	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEURON_PROJECTION_EXTENSION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_RETINAL_GANGLION_CELL_AXON_GUIDANCE;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_NEURON_PROJECTION_DEVELOPMENT;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_TAXIS;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_GROWTH;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_GAMETE_GENERATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_STEROID_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_EYE_DEVELOPMENT;GO_DEVELOPMENTAL_CELL_GROWTH;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_NEUROMUSCULAR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_REPRODUCTION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_AXON_EXTENSION;GO_CELL_GROWTH;GO_DEVELOPMENTAL_GROWTH;GO_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_P53_DOWNSTREAM_PATHWAY;PID_ERA_GENOMIC_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000151615-POU4F2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP3, PM2
H	4	152212475	rs117303916	T	C	222	PASS	PRSS48	.	exonic	NM_183375	.	missense SNV	PRSS48:NM_183375:exon5:c.T857C:p.L286P	ENST00000604030.6,ENSG00000109686.17,ENSG00000189099.11,ENST00000455694.6,ENST00000441586.2	.	4q31.3	.	.	Score=792;Name=V$HEN1_01	.	.	rs117303916	.	.	0	0.001	0.000798722	0.0002	0.00325748	277208	0.00434598	18868	0.00349786	0.00440917	.	.	Peptidase S1;Trypsin-like cysteine/serine peptidase domain	0.004,D	0.995,D	1.0,D	0.996359,D	0.365081,N	0.895,L	-2.42,D	9.7561	2.088	3.613	4.731689,24.6	4.09	.	VDB=0.667003;SGB=-0.693145;RPB=0.885949;MQB=2.08723e-13;MQSB=0.826874;BQB=0.987363;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=106;DP4=26,17,26,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:61:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:83:255,0,255:43,40	T	C	0	1	.	.	.	.	.	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic positivity in several different tissue types. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000189099-PRSS48/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM1, PM2, PP3
H	4	153564305	rs145777184	G	A	214	PASS	TMEM154	.	exonic	NM_152680	.	missense SNV	TMEM154:NM_152680:exon5:c.C413T:p.T138I	ENSG00000170006.11,ENST00000613578.4,ENST00000304385.7	.	4q31.3	.	.	.	.	.	rs145777184	.	.	0.00996678	0.0099	0.00199681	.	0.00086894	273896	0.01270777	18650	0.00660707	0.01232394	.	-0.1234	.	0.095,T	0.999,D	1.0,D	0.998623,D	0.000113,D	2.16,M	1.0,T	17.7309	2.788	4.554	5.380318,25.9	5.88	.	VDB=0.515892;SGB=-0.686358;RPB=0.97645;MQB=0.000603628;MQSB=0.966802;BQB=0.837563;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=42;DP4=13,4,11,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:29:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:31:247,0,255:17,14	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cellmembranous expression mainly in gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000170006-TMEM154/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 18.0	nucleus	.	PP3
M	4	153896380	rs117615730	G	A	222	PASS	FHDC1	.	exonic	NM_033393	.	missense SNV	FHDC1:NM_033393:exon11:c.G1937A:p.R646Q	ENST00000260008.3,ENST00000511601.5,ENSG00000137460.8	.	4q31.3	.	.	.	.	.	rs117615730	.	.	0.00332226	0.003	0.000599042	.	0.00077514	276078	0.00833422	18838	0.00971628	0.01415929	.	.	.	0.491,T	0.004,B	0.026,B	1,N	0.031365,N	1.2,L	1.55,T	1.4012	-0.178	0.227	.	.	0.0158161530852	VDB=0.239191;SGB=-0.693147;RPB=0.982124;MQB=0.999908;MQSB=0.987152;BQB=0.298876;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=235;DP4=51,41,47,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:108:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:174:255,0,255:92,82	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000137460-FHDC1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 12.3	.	.	BP4
L-	4	166403417	rs193118404	C	A	222	PASS	CPE	Carboxypeptidase E	exonic	NM_001873	.	synonymous SNV	CPE:NM_001873:exon4:c.C696A:p.V232V	ENST00000511992.1,ENST00000402744.8,ENST00000513982.5,ENSG00000109472.13,ENST00000431967.5	.	4q32.3	.	.	.	.	.	rs193118404	.	.	0.00664452	0.006	0.00119808	.	0.00065774	276706	0.00928875	18840	0.00719005	0.00442478	.	-0.2203	.	.	.	.	.	.	.	.	.	1.236	0.104	2.072725,16.68	4.57	.	VDB=0.67695;SGB=-0.692562;RPB=0.950731;MQB=6.8256e-08;MQSB=0.952456;BQB=0.995884;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=61;DP4=19,4,17,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:45:255,0,255:23,22	C	A	0	1	Carboxypeptidase E, 114855	.	.	.	19553464|11462236|9019408|8449522|2334405|7663508|19767734	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_CARDIAC_LEFT_VENTRICLE_MORPHOGENESIS;GO_CARDIAC_CHAMBER_MORPHOGENESIS;GO_PROTEIN_MATURATION;GO_REGULATION_OF_HORMONE_LEVELS;GO_WNT_SIGNALING_PATHWAY;GO_PEPTIDE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_HEART_MORPHOGENESIS;GO_CARDIAC_VENTRICLE_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_HEART_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_PEPTIDE_HORMONE_PROCESSING;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_HORMONE_METABOLIC_PROCESS;GO_PROTEOLYSIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_NEUROPEPTIDE_SIGNALING_PATHWAY	GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_EXTRACELLULAR_SPACE;GO_SECRETORY_GRANULE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_SOMATODENDRITIC_COMPARTMENT;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_TRANSPORT_VESICLE_MEMBRANE;GO_SYNAPTIC_MEMBRANE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_TYPE_EXOPEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_CARBOXYPEPTIDASE_ACTIVITY;GO_METALLOEXOPEPTIDASE_ACTIVITY;GO_METALLOCARBOXYPEPTIDASE_ACTIVITY;GO_SERINE_TYPE_CARBOXYPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_NEUREXIN_FAMILY_PROTEIN_BINDING;GO_EXOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING	KEGG_TYPE_I_DIABETES_MELLITUS	PID_ARF6_TRAFFICKING_PATHWAY	.	REACTOME_DIABETES_PATHWAYS;REACTOME_INSULIN_SYNTHESIS_AND_PROCESSING	Expression in subsets of cells including islets of Langerhans, enteroendocrine cells, prostate and a fraction of neurons.	http://www.proteinatlas.org/ENSG00000109472-CPE/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	prostate: 359.4	centrosome; nucleus but not nucleoli; vesicles	.	PP3
H	4	167012437	rs749812318	G	A	141	PASS	TLL1	Tolloid-like 1	exonic	NM_012464	.	missense SNV	TLL1:NM_012464:exon19:c.G2600A:p.R867Q	ENSG00000038295.7,ENST00000509505.5,ENST00000061240.6,ENST00000507499.5	.	4q32.3	.	.	Score=920;Name=V$FOXJ2_01	.	.	rs749812318	.	.	.	.	.	.	0.00016313	275854	0.00016062	18678	.	.	.	-0.2455	CUB domain	0.246,T	0.999,D	1.0,D	1,D	0.000000,U	1.56,L	1.3,T	19.2451	2.567	6.628	4.355679,24.1	5.43	0.01621571686	VDB=0.34069;SGB=-0.686358;RPB=0.820069;MQB=0.00151051;MQSB=0.99763;BQB=0.999388;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=42;DP4=11,9,6,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:40:.:.	0/0:38:.:.	0/0:50:.:.	0/0:35:.:.	0/0:49:.:.	0/0:31:.:.	0/0:34:.:.	0/1:34:174,0,255:20,14	G	A	0	1	Atrial septal defect 6, 613087 (3), Autosomal dominant	.	.	.	10331975|10479448|10516436|8661043	GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_PROTEOLYSIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	.	http://www.proteinatlas.org/ENSG00000038295-TLL1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 3.9	vesicles	.	PM1, PM2, PP2
L	4	169923361	rs771157609	GACAAA	G	70	PASS	CBR4	.	splicing	NM_032783	.	.	.	ENST00000509108.1,ENSG00000145439.11,ENST00000510042.5,ENST00000306193.7,ENST00000504480.5,ENST00000504561.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs771157609	.	.	.	.	.	.	0.00099362	19122	0.00260417	384	0.08066406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.542739,11.11	.	.	INDEL;VDB=0.298579;SGB=-0.680642;MQSB=0.961806;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=131;DP4=26,17,13,29;IDV=6;IMF=0.171429;MinDP=10;AN=16;AC=4	GT:DP:PL:AD	0/0:10:.:.	0/1:23:79,0,151:11,6	./.:.:.:.	0/1:24:87,0,176:14,5	0/0:11:.:.	0/0:10:.:.	0/0:13:.:.	0/1:19:103,0,98:7,4	0/1:19:80,0,176:11,4	GACAAA	G	0	4	.	.	.	.	.	GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_PROTEIN_HOMOTETRAMERIZATION;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_KETONE_METABOLIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_PROTEIN_OLIGOMERIZATION;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_SECONDARY_METABOLIC_PROCESS;GO_PROTEIN_TETRAMERIZATION;GO_GLYCOSIDE_METABOLIC_PROCESS;GO_QUINONE_METABOLIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_QUINONE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H;GO_NADPH_BINDING;GO_NADP_BINDING;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_QUINONE_OR_SIMILAR_COMPOUND_AS_ACCEPTOR;GO_OXIDOREDUCTASE_ACTIVITY;GO_COENZYME_BINDING	.	.	.	.	General cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000145439-CBR4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 17.0	.	.	.
H	4	170321764	rs35503975	C	T	222	PASS	NEK1	Never in mitosis gene A-related kinase 1	exonic	NM_001199397,NM_001199398,NM_001199399,NM_001199400,NM_012224	.	missense SNV	NEK1:NM_001199399:exon31:c.G3331A:p.D1111N,NEK1:NM_001199400:exon31:c.G3406A:p.D1136N,NEK1:NM_012224:exon32:c.G3538A:p.D1180N,NEK1:NM_001199398:exon33:c.G3490A:p.D1164N,NEK1:NM_001199397:exon34:c.G3622A:p.D1208N	ENST00000512193.5,ENST00000507142.5,ENST00000510533.5,ENST00000439128.6,ENST00000511633.5,ENST00000638824.1,ENSG00000137601.16	.	4q33	.	.	Score=798;Name=V$IRF7_01	.	.	rs35503975	Uncertain significance;Short_Rib_Polydactyly_Syndrome;RCV000280616.1;MedGen;C0036996	.	.	.	.	.	0.00011441	262224	0.00156250	17920	0.00058298	0.00176056	.	-0.4835	.	0.001,D	0.999,D	1.0,D	1,D	0.004291,N	2.19,M	0.67,T	19.1546	2.537	7.352	4.824319,24.8	5.39	0.0278317163596	VDB=0.121738;SGB=-0.692562;RPB=0.990996;MQB=1.31653e-06;MQSB=0.872746;BQB=0.940008;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=69;DP4=17,9,13,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:26,22	C	T	0	1	Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Autosomal recessive, Digenic recessive	.	.	.	18843199|22499340|26290490|19699716|9070925|1382974|11572484|15604234|14690447|21211617|10618398|10589692	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_CELL_DIVISION;GO_CELL_PROJECTION_ASSEMBLY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_ORGANELLE_FISSION;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_ASSEMBLY;GO_CELL_CYCLE;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION;GO_CELL_CYCLE_PROCESS	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_PERICENTRIOLAR_MATERIAL;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000137601-NEK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 11.3	nuclear membrane; nucleoli	.	BP1, PP3
H	4	184626187	rs79804817	G	A	222	PASS	TRAPPC11	Trafficking protein particle complex, subunit 11	exonic	NM_021942,NM_199053	.	missense SNV	TRAPPC11:NM_021942:exon27:c.G3019A:p.V1007M,TRAPPC11:NM_199053:exon27:c.G3019A:p.V1007M	ENST00000505676.5,ENST00000506426.1,ENST00000357207.8,ENST00000511955.5,ENST00000334690.10,ENST00000512476.1,ENSG00000168538.15	.	4q35.1	.	.	Score=923;Name=V$SREBP1_01	.	.	rs79804817	Likely benign;not_specified;RCV000254252.1;MedGen;CN169374	.	0.0332226	0.0288	0.00678914	0.0005	0.00407070	277102	0.05008480	18868	0.03983677	0.04409171	.	-0.5312	Domain of unknown function DUF1683, C-terminal	0.018,D	0.999,D	1.0,D	1,D	0.000217,D	2.215,M	.	18.1806	2.295	6.105	6.728327,32	4.94	.	VDB=0.235552;SGB=-0.693097;RPB=0.0971748;MQB=2.80237e-10;MQSB=0.977557;BQB=0.19218;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=174;DP4=40,19,44,18;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/1:64:255,0,255:34,30	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:57:255,0,255:25,32	G	A	0	2	Muscular dystrophy, limb-girdle, type 2S, 615356 (3), Autosomal recessive	.	.	.	23830518|26912795|27707803|26322222|21525244	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000168538-TRAPPC11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 16.9	nucleus but not nucleoli; nuclear membrane	.	BS1, BP6, PM1, PP2, PP3
H	4	187086544	rs200663596	C	T	222	PASS	FAM149A	.	exonic	NM_001006655,NM_001350178,NM_001350179,NM_015398	.	missense SNV	FAM149A:NM_001006655:exon11:c.C1090T:p.R364W,FAM149A:NM_001350178:exon11:c.C1090T:p.R364W,FAM149A:NM_001350179:exon11:c.C1090T:p.R364W,FAM149A:NM_015398:exon11:c.C1090T:p.R364W	ENST00000510843.5,ENST00000389354.6,ENST00000227065.8,ENST00000515078.5,ENST00000514153.5,ENST00000503432.5,ENSG00000109794.13,ENST00000512271.2,ENST00000356371.9,ENST00000502970.5	.	4q35.1	.	.	.	.	.	rs200663596	.	.	0.00166113	0.001	0.000199681	.	0.00022003	277238	0.00259699	18868	0.00213758	0.00088028	.	0.0262	.	0.015,D	0.994,D	1.0,D	1,N	0.006445,N	1.895,L	2.03,T	5.5011	0.156	0.236	3.680039,23.3	.	0.0133596574441	VDB=0.884985;SGB=-0.693146;RPB=0.906157;MQB=6.28138e-14;MQSB=0.41034;BQB=0.610887;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=127;DP4=34,12,37,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:90:255,0,255:46,44	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in several different tissue types, high expression in placenta.	http://www.proteinatlas.org/ENSG00000109794-FAM149A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	kidney: 20.8	.	.	PM2
H	4	187540329	.	C	G	222	PASS	FAT1	FAT tumor suppressor, Drosophila, homolog of, 1	exonic	NM_005245	.	missense SNV	FAT1:NM_005245:exon10:c.G7411C:p.V2471L	ENST00000441802.6,ENST00000614102.4,ENSG00000083857.13	.	4q35.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1783	Cadherin;Cadherin-like	0.268,T	0.997,D	0.998,D	1,D	0.000000,D	1.17,L	4.66,T	19.0561	2.810	7.612	4.400961,24.1	5.09	0.0280790166451	VDB=0.530276;SGB=-0.692352;RPB=0.954929;MQB=0.000498763;MQSB=0.909843;BQB=0.927223;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=14,8,12,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:40:.:.	0/0:33:.:.	0/0:50:.:.	0/0:30:.:.	0/0:34:.:.	0/0:30:.:.	0/0:37:.:.	0/1:43:255,0,255:22,21	C	G	0	1	FAT tumor suppressor, Drosophila, homolog of, 1, 600976	.	.	.	3417051|23785297|12724416|8586420|26905694|1809354|18635802|16865240|1959133|23354438|25615407	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_CELL_CELL_SIGNALING;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	GO_FILOPODIUM;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_CELL_SUBSTRATE_JUNCTION;GO_LAMELLIPODIUM;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_LEADING_EDGE	GO_CALCIUM_ION_BINDING	.	.	BIOCARTA_PPARA_PATHWAY	.	Cytoplasmic expression in most tissues at variable levels. Prominent membranous expression in gastrointestinal tract and high expression in neuropil of CNS.	http://www.proteinatlas.org/ENSG00000083857-FAT1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	colon: 29.6	.	.	PM2, PP3
L	5	1034879	rs150082569	C	T	222	PASS	NKD2	Naked cuticle, Drosophila, homolog of, 2	exonic	NM_001271082,NM_033120	.	synonymous SNV	NKD2:NM_001271082:exon7:c.C435T:p.S145S,NKD2:NM_033120:exon7:c.C435T:p.S145S	ENST00000296849.9,ENST00000519933.5,ENST00000274150.4,ENST00000523688.1,ENSG00000145506.13	.	5p15.33	.	.	Score=983;Name=V$P53_02	.	.	rs150082569	.	.	0.0398671	0.0377	0.00778754	.	0.00263952	275808	0.03612349	18852	0.02778857	0.03439153	.	-0.7561	.	.	.	.	.	.	.	.	.	0.840	0.423	.	3.51	.	VDB=0.149136;SGB=-0.693079;RPB=0.998647;MQB=5.49872e-07;MQSB=0.999581;BQB=0.968859;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=15,10,24,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:54:255,0,255:25,29	C	T	0	1	Naked cuticle, Drosophila, homolog of, 2, 607852	.	.	.	11604995|11356022	GO_POSITIVE_REGULATION_OF_PROTEIN_MATURATION;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_SECRETION_BY_CELL;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MEMBRANE_FUSION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_TARGETING;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_SECRETION;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_ORGANELLE_MEMBRANE_FUSION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_MATURATION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING_TO_PLASMA_MEMBRANE;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_EXOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_ORGANELLE_FUSION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_LATERAL_PLASMA_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_CALCIUM_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING;GO_GROWTH_FACTOR_BINDING	KEGG_WNT_SIGNALING_PATHWAY	PID_WNT_CANONICAL_PATHWAY	.	.	Stomach, nasopharynx, subset of renal tubules, salivary gland, hepatocytes and placenta displayed strong cytoplasmic positivity. Breast, colon, heart muscle, prostate, rectum and glandular cells of uterus were moderately stained. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000145506-NKD2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 3.8	.	.	BS1
L	5	1344537	rs201301704	G	A	222	PASS	CLPTM1L	CLPTM1-like protein	exonic	NM_030782	.	synonymous SNV	CLPTM1L:NM_030782:exon2:c.C192T:p.H64H	ENST00000630539.1,ENSG00000049656.13,ENST00000320895.9	.	5p15.33	.	.	Score=706;Name=V$NRSF_01	.	.	rs201301704	.	.	0.00166113	0.001	0.000199681	.	0.00002177	275660	0.00031847	18840	0.00038865	.	.	-0.1231	.	.	.	.	.	.	.	.	.	0.989	0.472	.	2.64	.	VDB=0.0732515;SGB=-0.693147;RPB=0.298664;MQB=2.01564e-17;MQSB=0.545298;BQB=0.805062;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=150;DP4=43,18,25,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:110:255,0,255:61,49	G	A	0	1	CLPTM1-like protein, 612585	.	.	.	11162647	GO_CELL_DEATH	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000049656-CLPTM1L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	stomach: 45.0	endoplasmic reticulum	.	PM2
L	5	5186217	rs777521397	G	A	222	PASS	ADAMTS16	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 16	exonic	NM_139056	.	synonymous SNV	ADAMTS16:NM_139056:exon5:c.G816A:p.K272K	ENST00000274181.7,ENST00000511368.5,ENSG00000145536.15,ENST00000433402.2	.	5p15.32	.	.	.	.	.	rs777521397	.	.	.	.	.	.	0.00003248	277072	0.00047695	18870	0.00058298	.	.	-0.0203	.	.	.	.	.	.	.	.	.	0.026	0.325	.	.	.	VDB=0.514454;SGB=-0.689466;RPB=0.901838;MQB=0.000181677;MQSB=0.605479;BQB=0.838801;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=45;DP4=15,0,12,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/1:31:255,0,214:15,16	G	A	0	1	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 16, 607510	.	.	.	11867212|19423552	GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_RENAL_TUBULE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_BRANCHING_INVOLVED_IN_URETERIC_BUD_MORPHOGENESIS;GO_MESONEPHRIC_TUBULE_MORPHOGENESIS;GO_TUBE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_TUBE_MORPHOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_KIDNEY_MORPHOGENESIS;GO_NEPHRON_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_MESONEPHROS_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_PROTEOLYSIS;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000145536-ADAMTS16/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 3.7	.	.	BP7, PM2
L	5	9066648	rs550944934	T	C	222	PASS	SEMA5A	Semaphorin 5a	exonic	NM_003966	.	synonymous SNV	SEMA5A:NM_003966:exon17:c.A2184G:p.R728R	ENST00000382496.9,ENSG00000112902.11	.	5p15.31	.	.	Score=707;Name=V$PPARG_02	.	.	rs550944934	.	.	0.00166113	0.001	0.000199681	.	0.00001625	246216	0.00023191	17248	0.00019433	.	.	-0.0374	.	.	.	.	.	.	.	.	.	-2.053	-7.384	.	.	.	VDB=0.394893;SGB=-0.693147;RPB=0.919089;MQB=3.33635e-18;MQSB=0.926199;BQB=0.737548;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=178;DP4=51,23,46,21;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:103:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:141:255,0,255:74,67	T	C	0	1	Semaphorin 5a, 609297	.	.	.	8817451|15218527|15603739|9049630|9464278|19812673	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEURON_RECOGNITION;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_CHEMOTAXIS;GO_CELL_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_AXON_GUIDANCE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_FOREBRAIN_DEVELOPMENT;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_TAXIS;GO_NEGATIVE_REGULATION_OF_AXON_GUIDANCE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEURAL_CREST_CELL_MIGRATION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_SPROUTING_ANGIOGENESIS;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CHEMOTAXIS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_CELL_SIZE;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_LOCOMOTION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_POSITIVE_REGULATION_OF_GROWTH;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_CATENIN_IMPORT_INTO_NUCLEUS;GO_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DIENCEPHALON_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_DEPOLYMERIZATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT;GO_MESENCHYME_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELL_RECOGNITION;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_STEM_CELL_DIFFERENTIATION;GO_NEURON_DIFFERENTIATION;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATENIN_IMPORT_INTO_NUCLEUS;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_REGULATION_OF_ENDOTHELIAL_CELL_CHEMOTAXIS;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_AXONOGENESIS;GO_AXONAL_FASCICULATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_NEURAL_CREST_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_CHEMOTAXIS;GO_REGULATION_OF_PROTEIN_TARGETING;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_CHEMOTAXIS	.	GO_SULFUR_COMPOUND_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEOGLYCAN_BINDING;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BINDING;GO_GLYCOPROTEIN_BINDING;GO_CHEMOREPELLENT_ACTIVITY;GO_RECEPTOR_BINDING;GO_SEMAPHORIN_RECEPTOR_BINDING	KEGG_AXON_GUIDANCE	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_OTHER_SEMAPHORIN_INTERACTIONS;REACTOME_SEMAPHORIN_INTERACTIONS	Skeletal and smooth muscle, most squamous epithelia, urothelium and male genitalia showed moderate diffuse cytoplasmic positivity sometimes with small granules. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000112902-SEMA5A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 13.8	.	.	BP7, PM2
L	5	21802485	rs112632478	C	A	203	PASS	CDH12	Cadherin-12 (N-cadherin 2)	exonic	NM_001317227,NM_001317228,NM_004061	.	missense SNV	CDH12:NM_001317227:exon7:c.G1047T:p.E349D,CDH12:NM_001317228:exon7:c.G927T:p.E309D,CDH12:NM_004061:exon10:c.G1047T:p.E349D	ENSG00000154162.14,ENST00000517378.1,ENST00000504376.6,ENST00000382254.5,ENST00000522262.1,ENST00000521384.5	.	5p14.3	.	.	.	.	.	rs112632478	.	.	0.00332226	0.006	0.0131789	0.0177	0.00613683	276690	0.00442195	18770	0.00388651	0.00264085	.	0.2030	Cadherin;Cadherin-like	0.064,T	0.119,B	0.008,B	0.998693,D	0.000001,D	3.04,M	1.09,T	8.2938	0.293	-0.371	3.865878,23.5	.	.	VDB=0.663114;SGB=-0.686358;RPB=0.332192;MQB=8.80399e-06;MQSB=0.913203;BQB=0.918481;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=51;DP4=9,18,5,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:29:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:41:236,0,255:27,14	C	A	0	1	Cadherin-12 (N-cadherin 2), 600562	.	.	.	10191097|7813013|7731968|7704025	GO_CELL_CELL_ADHESION;GO_CELL_JUNCTION_ORGANIZATION;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	.	GO_CALCIUM_ION_BINDING	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS;REACTOME_CELL_CELL_JUNCTION_ORGANIZATION;REACTOME_CELL_JUNCTION_ORGANIZATION	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000154162-CDH12/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	endometrium: 0.2	vesicles	.	PM1
L+	5	36686188	.	C	T	169	PASS	SLC1A3	Solute carrier family 1 (glial high affinity glutamate transporter), member 3	exonic	NM_001166695,NM_001289939,NM_001289940,NM_004172	.	synonymous SNV	SLC1A3:NM_001289940:exon8:c.C1110T:p.T370T,SLC1A3:NM_001166695:exon9:c.C1311T:p.T437T,SLC1A3:NM_001289939:exon9:c.C1308T:p.T436T,SLC1A3:NM_004172:exon10:c.C1446T:p.T482T	ENST00000381918.3,ENSG00000250155.1,ENST00000613445.4,ENST00000612708.4,ENST00000506178.1,ENST00000265113.8,ENST00000510740.1,ENSG00000079215.13	.	5p13.2	.	.	Score=808;Name=V$PAX4_01	.	.	.	.	.	.	.	.	.	0.00000406	246214	0.00005798	17248	.	.	.	.	.	.	.	.	.	.	.	.	.	2.642	0.967	1.458963,13.10	4.75	.	VDB=0.23502;SGB=-0.686358;RPB=0.998823;MQB=5.82947e-05;MQSB=0.94;BQB=0.970994;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=31;DP4=12,1,13,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:12:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:27:202,0,204:13,14	C	T	0	1	Episodic ataxia, type 6, 612656 (3), Autosomal dominant	.	.	.	19139306|8661010|9539795|24214974|16116111|1488985|8001975|16880397|25497598|7859077|8647279|7698014|9753165|23107647	GO_NEURON_DEVELOPMENT;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_GLUTAMATE_SECRETION;GO_SENSORY_PERCEPTION;GO_GLUTAMINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ACID_SECRETION;GO_L_ALPHA_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEUROTRANSMITTER_UPTAKE;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_SECRETION_BY_CELL;GO_ALPHA_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_WOUNDING;GO_GLUTAMATE_METABOLIC_PROCESS;GO_MITOCHONDRIAL_TRANSPORT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_L_AMINO_ACID_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_NEUROTRANSMITTER_TRANSPORT;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_XENOPHAGY;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_CRANIAL_NERVE_DEVELOPMENT;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_DICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_MACROAUTOPHAGY;GO_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_TRANSPORT;GO_DEFENSE_RESPONSE;GO_CELLULAR_RESPIRATION;GO_SECRETION;GO_ANION_TRANSPORT;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_AUTOPHAGY;GO_L_AMINO_ACID_IMPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_DICARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ELECTRON_TRANSPORT_CHAIN;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NERVE_DEVELOPMENT;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_RADIATION;GO_OXIDATION_REDUCTION_PROCESS;GO_RESPONSE_TO_AUDITORY_STIMULUS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_DICARBOXYLIC_ACID_TRANSPORT;GO_NEUROGENESIS;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_SYSTEM_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_SYNAPTIC_SIGNALING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ACIDIC_AMINO_ACID_TRANSPORT;GO_RESPONSE_TO_DRUG;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_ANTIBIOTIC;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_MACROMITOPHAGY;GO_MECHANOSENSORY_BEHAVIOR;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_IMPORT_INTO_CELL;GO_NEUROMUSCULAR_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_CELL_DEVELOPMENT;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_AMINO_ACID_IMPORT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_BEHAVIOR;GO_ORGANELLE_DISASSEMBLY	GO_EXTRACELLULAR_MATRIX;GO_BASOLATERAL_PLASMA_MEMBRANE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_ORGANELLE_INNER_MEMBRANE;GO_NEURON_SPINE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_CELL_SURFACE;GO_FIBRIL;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_DENDRITE	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_AMINO_ACID_BINDING;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CATION_SYMPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_L_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACIDIC_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_BINDING;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_SODIUM_SYMPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_DICARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_SOLUTE_SODIUM_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	Selective expression in neuropil and subsets of glial cells.	http://www.proteinatlas.org/ENSG00000079215-SLC1A3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adipose tissue: 20.0	mitochondria; nucleoli	.	PM2
L	5	43174710	rs75565903	A	G	222	PASS	ZNF131	Zinc finger protein -31	exonic	NM_001297548,NM_001330704,NM_001330705,NM_001330706,NM_001330707,NM_001330708,NM_001330709,NM_001330710,NM_001330711,NM_001330712,NM_001330713,NM_001330714,NM_001330715,NM_001330716,NM_001330717,NM_003432	.	synonymous SNV	ZNF131:NM_001330705:exon6:c.A510G:p.L170L,ZNF131:NM_001330710:exon6:c.A510G:p.L170L,ZNF131:NM_001297548:exon7:c.A1347G:p.L449L,ZNF131:NM_001330707:exon7:c.A1347G:p.L449L,ZNF131:NM_001330708:exon7:c.A1347G:p.L449L,ZNF131:NM_001330709:exon7:c.A510G:p.L170L,ZNF131:NM_001330712:exon7:c.A1347G:p.L449L,ZNF131:NM_001330714:exon7:c.A1347G:p.L449L,ZNF131:NM_001330704:exon8:c.A510G:p.L170L,ZNF131:NM_001330706:exon8:c.A1245G:p.L415L,ZNF131:NM_001330711:exon8:c.A1245G:p.L415L,ZNF131:NM_001330713:exon8:c.A1245G:p.L415L,ZNF131:NM_001330715:exon8:c.A1245G:p.L415L,ZNF131:NM_001330716:exon8:c.A1158G:p.L386L,ZNF131:NM_001330717:exon8:c.A1008G:p.L336L,ZNF131:NM_003432:exon8:c.A1245G:p.L415L	ENST00000510026.5,ENSG00000172262.11,ENST00000507231.1,ENST00000509634.5,ENST00000502623.1,ENST00000509156.5,ENST00000511736.5,ENST00000505606.6,ENST00000509931.5,ENST00000306938.8,ENST00000507218.5	.	5p12	.	.	.	Score=0.911715;Name=chr6:145809689	.	rs75565903	.	.	0.0215947	0.0258	0.00519169	0.0002	0.00170621	276636	0.02125066	18870	0.02739992	0.02992958	.	.	.	.	.	.	.	.	.	.	.	-0.386	0.440	.	.	.	VDB=0.0903098;SGB=-0.692562;RPB=0.125091;MQB=5.10536e-07;MQSB=0.924225;BQB=0.481042;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=143;DP4=37,16,42,20;MinDP=10;AN=18;AC=3	GT:DP:PL:AD	0/0:10:.:.	0/0:26:.:.	0/0:27:.:.	0/1:40:255,0,255:18,22	0/1:36:255,0,255:18,18	0/0:10:.:.	0/0:10:.:.	0/0:51:.:.	0/1:39:255,0,255:17,22	A	G	0	3	Zinc finger protein -31, 604073	.	.	.	23404503|8268908|7557990	GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Normal tissues generally showed moderate to strong nuclear immunoreactivity.	http://www.proteinatlas.org/ENSG00000172262-ZNF131/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 27.8	.	.	BP7
L	5	43487035	rs750391776	T	C	193	PASS	C5orf34	.	exonic	NM_198566	.	synonymous SNV	C5orf34:NM_198566:exon13:c.A1899G:p.L633L	ENST00000504469.1,ENSG00000172244.8,ENST00000306862.6,ENSG00000249492.1,ENST00000505645.1	.	5p12	.	.	.	.	.	rs750391776	.	.	.	.	.	.	0.00013598	220628	0.00212194	14138	0.00019433	0.00088183	.	.	.	.	.	.	.	.	.	.	.	-0.135	0.139	.	.	.	VDB=0.0305657;SGB=-0.688148;RPB=0.577775;MQB=2.75364e-05;MQSB=0.657809;BQB=0.783637;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=38;DP4=10,4,13,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:13:.:.	0/0:10:.:.	0/0:30:.:.	0/1:29:226,0,255:14,15	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal cells showed weak to moderate cytoplasmic positivity. Leydig cells, superfici,al gastric mucosa, heart and skeletal muscle were strongly stained. Smooth muscle, spleen and soft tissues were negative.	http://www.proteinatlas.org/ENSG00000172244-C5orf34/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 3.5	.	.	BP7, PM2
L-	5	50124177	rs776650461	C	T	222	PASS	PARP8	.	exonic	NM_001178055,NM_001178056,NM_001331028,NM_024615	.	synonymous SNV	PARP8:NM_001178056:exon20:c.C1996T:p.L666L,PARP8:NM_001331028:exon21:c.C2059T:p.L687L,PARP8:NM_024615:exon21:c.C2122T:p.L708L,PARP8:NM_001178055:exon22:c.C2122T:p.L708L	ENST00000505697.6,ENST00000281631.9,ENST00000511363.6,ENST00000514342.6,ENST00000503561.7,ENST00000515166.5,ENSG00000151883.17,ENST00000505554.5,ENST00000514067.6	.	5q11.1	.	.	Score=789;Name=V$AHR_01	.	.	rs776650461	.	.	.	.	.	.	0.00004473	245930	0.00052192	17244	0.00136028	0.00176056	.	-5.5391	.	.	.	.	.	.	.	.	.	1.444	2.077	2.180493,17.38	4.91	.	VDB=0.0472726;SGB=-0.693147;RPB=0.701274;MQB=4.47611e-12;MQSB=0.221882;BQB=0.924714;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=173;DP4=52,6,47,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:118:255,0,255:58,60	C	T	0	1	.	.	.	.	.	.	.	GO_NAD_ADP_RIBOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS	.	.	.	.	Most normal tissues displayed weak to moderate membranous and/or cytoplasmic positivity. Liver, cells of CNS, lymphoid cells, smooth muscle and soft tissue were negative.	http://www.proteinatlas.org/ENSG00000151883-PARP8/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 41.1	nucleus; cytoplasm; cytoskeleton (cytokinetic bridge)	.	PM2, PP3
H	5	52856502	rs185711494	G	C	222	PASS	NDUFS4	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q reductase)	exonic	NM_001318051,NM_002495	.	missense SNV	NDUFS4:NM_001318051:exon1:c.G10C:p.V4L,NDUFS4:NM_002495:exon1:c.G10C:p.V4L	ENST00000506974.5,ENST00000296684.9,ENST00000507026.5,ENST00000502423.5,ENSG00000164258.11	.	5q11.2	.	.	Score=826;Name=V$YY1_02	.	.	rs185711494	Benign;not_specified;RCV000335188.1;MedGen;CN169374	.	0.00664452	0.0069	0.00139776	.	0.00061683	277222	0.00885003	18870	0.00777303	0.00968310	.	.	.	0.36,T	0.016,B	0.018,B	0.996951,N	0.112014,N	1.935,L	-0.12,T	11.8425	1.588	0.553	2.655378,20.5	4.71	0.0246700531326	VDB=0.0810291;SGB=-0.693145;RPB=0.463137;MQB=1.58458e-14;MQSB=0.997443;BQB=0.974092;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=113;DP4=35,10,31,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:86:255,0,255:45,41	G	C	0	1	Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	19107570|24020637|12616398|10944442|9763677|24231806|8603710|11181577|10330338|14749350|9463323|1518044	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_BIOGENESIS;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_CELLULAR_RESPIRATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_OXIDATIVE_PHOSPHORYLATION;GO_RESPONSE_TO_CAMP;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_ELECTRON_TRANSPORT_CHAIN;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_OXIDATION_REDUCTION_PROCESS;GO_HEAD_DEVELOPMENT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_PHOSPHORYLATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CAMP_MEDIATED_SIGNALING	GO_OXIDOREDUCTASE_COMPLEX;GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_RESPIRATORY_CHAIN;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NADH_DEHYDROGENASE_COMPLEX;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MITOCHONDRIAL_PROTEIN_COMPLEX	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_QUINONE_OR_SIMILAR_COMPOUND_AS_ACCEPTOR;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	Ubiquitous mitochondrial expression.	http://www.proteinatlas.org/ENSG00000164258-NDUFS4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 125.1	mitochondria	.	BP6
H	5	61857044	rs188277939	T	G	222	PASS	IPO11	Importin 11	exonic	NM_001134779,NM_016338	.	missense SNV	IPO11:NM_001134779:exon27:c.T2662G:p.S888A,IPO11:NM_016338:exon27:c.T2542G:p.S848A	ENST00000511133.1,ENST00000325324.10,ENST00000413749.2,ENSG00000086200.16,ENST00000409296.7,ENST00000424533.5,ENST00000511713.5	.	5q12.1	.	.	.	.	.	rs188277939	.	.	0.00166113	0.001	0.000199681	.	0.00009100	274724	0.00107193	18658	.	.	.	0.0829	Armadillo-like helical;Armadillo-type fold	0.28,T	0.357,B	0.846,P	0.999999,D	0.000000,D	1.95,M	-0.17,T	14.5211	2.132	7.346	4.048986,23.7	5.31	0.031644840714	VDB=6.48935e-05;SGB=-0.692067;RPB=0.07746;MQB=9.70858e-06;MQSB=0.998371;BQB=0.387607;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=50;DP4=11,8,12,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/1:39:255,0,255:19,20	T	G	0	1	Importin 11, 610889	.	.	.	11032817|11809816|12767927	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_PROTEIN_IMPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_NUCLEAR_TRANSPORT;GO_NUCLEAR_IMPORT;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_NUCLEAR_ENVELOPE;GO_ENVELOPE	GO_RAN_GTPASE_BINDING;GO_PROTEIN_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Most normal tissues showed moderate to strong cytoplasmic staining. The neuronal cells displayed additional distinct nucleolar positivity. Inflammatory cells in several tissues were distinctly stained. Fallopian tube and trophoblastic cells exhibited distinct cytoplasmic and membranous immunoreactivity. Non-germinal center cells, bile duct cells, parathyroid, cells in glomeruli and skeletal muscle were mainly negative.	http://www.proteinatlas.org/ENSG00000086200-IPO11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 20.7	nucleus; nucleoli	.	PM1, PM2
H	5	64447778	rs199907451	G	A	222	PASS	ADAMTS6	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 6	splicing	NM_197941	NM_197941:exon25:c.3245-6C>T	.	.	ENST00000381055.7,ENST00000381052.8,ENSG00000049192.14,ENST00000314351.9	.	5q12.3	.	.	.	.	.	rs199907451	.	.	0.0116279	0.0089	0.00179712	.	0.00088590	276554	0.01282459	18870	0.00544112	0.00528169	0,0.002	.	.	.	.	.	.	.	.	.	.	-1.001	0.246	.	.	.	VDB=0.652043;SGB=-0.693054;RPB=0.784066;MQB=1.25597e-06;MQSB=0.502713;BQB=0.232924;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=157;DP4=36,13,47,12;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:52:255,0,255:24,28	0/0:30:.:.	0/0:52:.:.	0/0:31:.:.	0/0:30:.:.	0/1:56:255,0,255:25,31	G	A	0	2	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 6, 605008	.	.	.	16129570|10464288|26686553	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_CORONARY_VASCULATURE_DEVELOPMENT;GO_ARTERY_DEVELOPMENT;GO_AORTA_DEVELOPMENT;GO_HEART_DEVELOPMENT;GO_VASCULATURE_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_PROTEOLYSIS	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in placental trophoblasts and ovarian follicle cells.	http://www.proteinatlas.org/ENSG00000049192-ADAMTS6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 1.8	.	.	.
L	5	71492626	.	C	T	222	PASS	MAP1B	Microtubule-associated protein-1B	exonic	NM_001324255,NM_005909	.	synonymous SNV	MAP1B:NM_001324255:exon4:c.C3066T:p.N1022N,MAP1B:NM_005909:exon5:c.C3444T:p.N1148N	ENSG00000131711.14,ENST00000296755.11	.	5q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.694	.	3.96	.	VDB=0.111153;SGB=-0.693147;RPB=0.995964;MQB=6.40163e-17;MQSB=0.466598;BQB=0.342982;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=194;DP4=40,34,33,37;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:144:255,0,255:74,70	C	T	0	1	Microtubule-associated protein-1B, 157129	.	.	.	16227972|8577753|1712602|1881920|7806212|8432521|11733059	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY;GO_CELL_PART_MORPHOGENESIS;GO_NEURON_PROJECTION_EXTENSION;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_REGULATION_OF_GROWTH;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_CELL_SIZE;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_GROWTH;GO_MICROTUBULE_BUNDLE_FORMATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_DEVELOPMENTAL_CELL_GROWTH;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_REGULATION_OF_TRANSPORT;GO_MITOCHONDRION_LOCALIZATION;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_AXONOGENESIS;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_AXON_EXTENSION;GO_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DEVELOPMENTAL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_EXCITATORY_SYNAPSE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_NEURON_SPINE;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_SUPRAMOLECULAR_FIBER;GO_NONMOTILE_PRIMARY_CILIUM;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_PRIMARY_CILIUM;GO_CILIUM;GO_SYNAPSE_PART;GO_PHOTORECEPTOR_OUTER_SEGMENT;GO_DENDRITE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	PID_REELIN_PATHWAY;PID_NETRIN_PATHWAY;PID_LIS1_PATHWAY	.	.	Cytoplasmic expression in the CNS, peripheral nerve, renal glomeruli, pancreatic islets and seminiferus duct cells in testis.	http://www.proteinatlas.org/ENSG00000131711-MAP1B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	smooth muscle: 22.1	cytoplasm	.	PM2
H	5	79768604	rs200718663	C	G	210	PASS	ZFYVE16	Zinc finger FYVE domain-containing protein 16	exonic	NM_001105251,NM_001284236,NM_001349434,NM_014733	.	missense SNV	ZFYVE16:NM_014733:exon15:c.C4049G:p.P1350R,ZFYVE16:NM_001105251:exon16:c.C4049G:p.P1350R,ZFYVE16:NM_001284236:exon16:c.C4049G:p.P1350R,ZFYVE16:NM_001349434:exon16:c.C4049G:p.P1350R	ENST00000338008.9,ENST00000505560.4,ENSG00000039319.16,ENST00000513789.1,ENST00000512907.5,ENST00000511829.5,ENST00000510158.5	.	5q14.1	.	.	Score=813;Name=V$MEF2_01	.	.	rs200718663	.	.	0.00498339	0.003	0.000599042	.	0.00035760	276846	0.00525255	18848	0.00311042	0.00616197	.	0.1538	Domain of unknown function DUF3480	0.021,D	0.989,D	0.996,D	1,D	0.000027,D	2.125,M	0.97,T	19.5343	2.713	3.396	6.268678,29.0	5.75	0.0148985697646	VDB=0.963833;SGB=-0.686358;RPB=0.999213;MQB=0.0105628;MQSB=0.852112;BQB=0.999213;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=47;DP4=10,7,12,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:27:.:.	0/0:10:.:.	0/0:10:.:.	0/1:31:243,0,255:17,14	C	G	0	1	Zinc finger FYVE domain-containing protein 16, 608880	.	.	.	17570516|11546807|14613930	GO_LYSOSOMAL_TRANSPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION_TO_LYSOSOME;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_PROTEIN_LOCALIZATION_TO_VACUOLE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_ENDOCYTOSIS;GO_RESPONSE_TO_BMP;GO_RESPONSE_TO_GROWTH_FACTOR;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_VACUOLE;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_TARGETING_TO_LYSOSOME;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_VACUOLE;GO_EARLY_ENDOSOME_MEMBRANE;GO_VACUOLAR_PART;GO_ENDOSOMAL_PART;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_PROTEIN_TRANSPORTER_ACTIVITY;GO_1_PHOSPHATIDYLINOSITOL_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_TRANSPORTER_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_4_5_TRISPHOSPHATE_BINDING	KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_BMP_PATHWAY;PID_TGFBR_PATHWAY	.	REACTOME_SIGNALING_BY_BMP	Cytoplasmic expression with a granular pattern in most tissues.	http://www.proteinatlas.org/ENSG00000039319-ZFYVE16/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 14.1	cytoplasm; vesicles	.	PM1
L	5	79945875	rs199844766	G	A	196	PASS	MTRNR2L2	.	exonic	NM_001190470	.	missense SNV	MTRNR2L2:NM_001190470:exon1:c.C31T:p.L11F	ENST00000513314.1,ENST00000439211.6,ENST00000513048.5,ENST00000504396.1,ENST00000508282.1,ENSG00000271043.2,ENST00000505337.5,ENST00000604882.2,ENST00000511032.5,ENSG00000228716.6	.	5q14.1	.	.	.	Score=0.967772;Name=chr11:10529708	.	rs199844766	.	.	0.0199336	0.0188	0.00399361	.	0.00166270	161184	0.02184845	11534	0.02973183	0.02292769	.	.	.	.	.	.	.	.	.	.	.	0.361	0.086	.	.	.	VDB=0.830559;SGB=-0.670168;RPB=0.467995;MQB=0.00229965;MQSB=0.554308;BQB=0.835995;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=29;DP4=5,6,3,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:229,0,255:11,10	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
M	5	101735373	rs138283674	C	G	222	PASS	SLCO6A1	Solute carrier organic anion transporter family, member 6A1	exonic	NM_001289002,NM_001289004,NM_001308014,NM_173488	.	missense SNV	SLCO6A1:NM_001308014:exon5:c.G941C:p.R314T,SLCO6A1:NM_001289004:exon9:c.G1514C:p.R505T,SLCO6A1:NM_001289002:exon10:c.G1700C:p.R567T,SLCO6A1:NM_173488:exon10:c.G1700C:p.R567T	ENST00000506729.5,ENSG00000205359.9,ENST00000379807.7,ENST00000513675.1,ENST00000389019.7	.	5q21.1	.	.	.	.	.	rs138283674	.	.	0.0215947	0.0169	0.00339457	0.0005	0.00094795	276386	0.01246006	18780	0.00952196	0.01056338	.	-0.3775	Kazal domain	0.276,T	0.127,B	0.178,B	1,N	0.000255,N	-0.225,N	1.05,T	0.7926	-2.461	-2.018	.	.	.	VDB=0.91474;SGB=-0.693132;RPB=0.664196;MQB=5.72398e-10;MQSB=0.780494;BQB=0.925398;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=101;DP4=28,13,25,9;MinDP=49;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:75:255,0,255:41,34	C	G	0	1	Solute carrier organic anion transporter family, member 6A1, 613365	.	.	.	12677006	GO_ION_TRANSPORT;GO_SODIUM_INDEPENDENT_ORGANIC_ANION_TRANSPORT;GO_ANION_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SODIUM_INDEPENDENT_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Distinct membranous expression in seminiferous ducts.	http://www.proteinatlas.org/ENSG00000205359-SLCO6A1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	placenta: 0.1	.	.	BP4, PM1
L	5	112824051	rs72442525	C	CGCT	171	PASS	MCC	Mutated in colorectal cancers	exonic	NM_001085377	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.60_61insAGC:p.G21delinsSG	ENSG00000171444.17,ENST00000408903.6,ENST00000511242.1	CpG: 86	5q22.2	.	.	.	.	Score=323;Name="3759429:(CCG)n(Simple_repeat)"	rs72442525	.	.	.	.	.	.	0.00001273	157166	.	.	0.02624417	0.00194553	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.214127,0.065	.	.	INDEL;VDB=0.251333;SGB=-0.693136;MQSB=0.881385;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=121;DP4=9,1,16,19;IDV=3;IMF=0.0247934;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:52:.:.	0/0:52:.:.	0/0:52:.:.	0/0:44:.:.	0/0:50:.:.	0/0:50:.:.	0/0:32:.:.	0/1:45:204,0,91:10,35	C	CGCT	0	1	Colorectal cancer, somatic, 114500 (3)	.	.	.	1678319|1354644|1848370|1315124	GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_LAMELLIPODIUM;GO_CELL_PROJECTION;GO_CELL_LEADING_EDGE	GO_RECEPTOR_ACTIVITY	.	.	.	.	Cytoplasmic expression in a variety of tissues.	http://www.proteinatlas.org/ENSG00000171444-MCC/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 14.5	nucleus but not nucleoli	.	BP3
M	5	121356164	rs80254192	G	T	222	PASS	SRFBP1	Serum response factor binding protein 1	exonic	NM_152546	.	missense SNV	SRFBP1:NM_152546:exon6:c.G734T:p.G245V	ENSG00000151304.5,ENST00000339397.4	.	5q23.1	.	.	.	.	.	rs80254192	.	.	.	.	.	.	0.00107329	276718	0.01425845	18866	0.01535173	0.02112676	.	-0.0205	.	0.269,T	0.001,B	0.001,B	1,N	0.133433,N	0.345,N	.	10.6363	-2.236	-1.351	.	.	.	VDB=0.0133044;SGB=-0.692717;RPB=0.987746;MQB=2.93922e-05;MQSB=0.999599;BQB=0.759159;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=108;DP4=22,15,30,16;MinDP=15;AN=18;AC=2	GT:DP:PL:AD	0/0:15:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:25:.:.	0/1:39:255,0,255:16,23	0/0:31:.:.	0/0:30:.:.	0/1:44:255,0,255:21,23	G	T	0	2	Serum response factor binding protein 1, 610479	.	.	.	16647043|15492011	GO_RIBOSOME_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA;GO_RRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS	GO_90S_PRERIBOSOME;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_PRERIBOSOME;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Glandular and epithelial cells showed moderate to strong cytoplasmic positivity with additional membranous staining in several cases. Hepatocytes, cells of CNS, lymphoid tissues, bone marrow, muscle tissue and seminiferus ducts of testis were negative.	http://www.proteinatlas.org/ENSG00000151304-SRFBP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 7.8	nucleoli; nucleus	.	BP4
H	5	126862477	rs142918416	C	T	177	PASS	PRRC1	.	splicing	NM_001286808,NM_130809	NM_001286808:exon4:c.654+7C>T;NM_130809:exon4:c.654+7C>T	.	.	ENST00000442138.6,ENSG00000164244.20,ENST00000512635.2,ENST00000296666.12	.	5q23.2	.	.	.	.	.	rs142918416	.	.	0.0332226	0.0397	0.0081869	7.7e-05	0.00392606	240190	0.05485490	16334	0.03714508	0.03716814	0.0001,0	0.1645	.	.	.	.	.	.	.	.	.	-1.098	-2.940	1.165333,11.56	.	.	VDB=0.0711771;SGB=-0.662043;RPB=0.88692;MQB=0.00482795;MQSB=0.562066;BQB=0.934728;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=24;DP4=5,5,3,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:19:210,0,235:10,9	C	T	0	1	.	.	.	.	.	.	GO_GOLGI_APPARATUS	.	.	.	.	.	Granular cytoplasmic expression in all tissues.	http://www.proteinatlas.org/ENSG00000164244-PRRC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 25.4	vesicles	.	BS1
H-	5	129083941	.	G	A	222	PASS	KIAA1024L	.	exonic	NM_001257308	.	missense SNV	KIAA1024L:NM_001257308:exon1:c.G58A:p.V20I	ENST00000503616.5,ENST00000564719.1,ENSG00000186367.6,ENSG00000251680.5	.	5q23.3	.	.	Score=937;Name=V$CREB_01	.	.	.	.	.	.	.	.	.	0.00000812	123110	0.00010156	9846	.	0.00088028	.	.	.	.	.	.	.	.	.	.	.	0.683	5.245	4.665147,24.5	3.73	0.0144967262987	VDB=0.0849521;SGB=-0.692562;RPB=0.61399;MQB=4.52082e-06;MQSB=0.190061;BQB=0.995884;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=64;DP4=13,10,20,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:45:255,0,255:23,22	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000186367-KIAA1024L/tissue	FPKM<0.5 in all tissues <Not detected>	endometrium: 0.1	.	.	PM2
H	5	129521440	rs78253116	C	T	217	PASS	CHSY3	Chondroitin sulfate synthase 3	exonic	NM_175856	.	missense SNV	CHSY3:NM_175856:exon3:c.C2605T:p.L869F	ENST00000305031.4,ENSG00000198108.3	.	5q23.3	.	.	.	.	.	rs78253116	.	.	0.0398671	0.0446	0.0091853	7.7e-05	0.00243801	273994	0.03396307	18844	0.02739992	0.02816901	.	.	Nucleotide-diphospho-sugar transferases	0.088,T	0.024,B	0.012,B	0.99465,D	0.001967,N	0.67,N	1.54,T	9.9392	-0.180	0.680	1.161160,11.54	.	.	VDB=0.0846903;SGB=-0.662043;RPB=0.448332;MQB=0.011109;MQSB=0.740818;BQB=0.686908;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=18,15,14,14;MinDP=10;AN=18;AC=3	GT:PL:DP:AD	0/1:214,0,148:14:5,9	0/0:.:30:.	0/0:.:30:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/1:250,0,255:23:12,11	0/0:.:30:.	0/1:172,0,255:24:16,8	C	T	0	3	Chondroitin sulfate synthase 3, 609963	.	.	.	12907687	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_STACK;GO_GOLGI_CISTERNA;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS;GO_GOLGI_CISTERNA_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	GO_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GLUCURONOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	Renal tubules, thyroid gland and ducts in the salivary gland displayed strong cytoplasmic and membranous positivity. The intestine, gall bladder, endometrial and prostate glands exhibited moderate membranous and cytoplasmic positivity. Neuropil showed distinct positivity. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000198108-CHSY3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	gallbladder: 2.9	.	.	BS1, PM1
L	5	133450798	rs751948996	G	C	135	PASS	TCF7	Transcription factor-7, T-cell specific	exonic	NM_001346425,NM_003202	.	synonymous SNV	TCF7:NM_001346425:exon1:c.G201C:p.G67G,TCF7:NM_003202:exon1:c.G201C:p.G67G	ENST00000342854.9,ENST00000395029.5,ENSG00000081059.19	CpG: 157	5q31.1	.	.	.	.	Score=48;Name="3792789:GC_rich(Low_complexity)"	rs751948996	.	.	.	.	.	.	0.00040277	37242	0.00901442	1664	0.00388954	0.00353982	.	.	.	.	.	.	.	.	.	.	.	1.390	0.813	.	.	.	VDB=0.0959456;SGB=-0.616816;RPB=0.47436;MQB=0.0508243;MQSB=0.584657;BQB=0.660716;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=14;DP4=3,3,2,4;MinDP=5;AN=14;AC=1	GT:DP:PL:AD	./.:.:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	./.:.:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/1:12:168,0,155:6,6	G	C	0	1	Transcription factor-7, T-cell specific, 189908	.	.	.	20448567|19525962|20457902|7626895|10489374|8622675|1989880|1569101|7870176|21814277|20026746|20727791	GO_LEUKOCYTE_ACTIVATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_INTERLEUKIN_4;GO_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_WNT_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_INTERLEUKIN_4;GO_SOMATIC_CELL_DNA_RECOMBINATION;GO_CELL_CELL_ADHESION;GO_EMBRYONIC_DIGESTIVE_TRACT_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_LYMPHOCYTE_ACTIVATION;GO_CANONICAL_WNT_SIGNALING_PATHWAY;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_DIGESTIVE_TRACT_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGAN_MORPHOGENESIS;GO_DIGESTIVE_TRACT_MORPHOGENESIS;GO_SOMATIC_DIVERSIFICATION_OF_IMMUNE_RECEPTORS;GO_TUBE_DEVELOPMENT;GO_DNA_RECOMBINATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_EMBRYONIC_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_ALPHA_BETA_T_CELL_ACTIVATION;GO_IMMUNE_RESPONSE;GO_SEX_DIFFERENTIATION;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_TUBE_MORPHOGENESIS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_BETA_CATENIN_TCF_COMPLEX_ASSEMBLY;GO_RESPONSE_TO_CYTOKINE;GO_REPRODUCTION;GO_GENITALIA_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_LYMPHOCYTE_DIFFERENTIATION;GO_V_D_J_RECOMBINATION;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_EUCHROMATIN;GO_EUCHROMATIN	GO_BETA_CATENIN_BINDING;GO_CORE_PROMOTER_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	KEGG_WNT_SIGNALING_PATHWAY;KEGG_ADHERENS_JUNCTION;KEGG_MELANOGENESIS;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_PROSTATE_CANCER;KEGG_THYROID_CANCER;KEGG_BASAL_CELL_CARCINOMA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_BETA_CATENIN_NUC_PATHWAY	.	.	Nuclear expression in a subset of lymphoid cells.	http://www.proteinatlas.org/ENSG00000081059-TCF7/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 47.2	.	.	BP7
L	5	134193043	rs78987868	T	G	222	PASS	C5orf24	.	splicing	NM_001300894	NM_001300894:exon3:c.428-4T>G	.	.	ENST00000507390.1,ENSG00000181904.8,ENST00000504727.1,ENST00000394976.3,ENST00000338051.4	.	5q31.1	.	.	.	.	.	rs78987868	.	.	0.0481728	0.0526	0.0377396	.	0.01928946	173670	0.04721177	11692	0.04139137	0.04577465	0.0008,0.008	.	.	.	.	.	.	.	.	.	.	1.077	3.671	2.038215,16.46	4.88	.	VDB=0.27062;SGB=-0.692831;RPB=0.980162;MQB=1.57956e-07;MQSB=0.973424;BQB=0.995427;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=70;DP4=24,6,21,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:54:255,0,255:30,24	T	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic, membranous and/or nuclear positivity. Cilia in bronchus and nuclei in adrenal glands exhibited strong immunoreactivity. Liver, ovary, cells in CNS, lymphoid tissues and soft tissues were generally negative.	http://www.proteinatlas.org/ENSG00000181904-C5orf24/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 29.3	nucleus; nucleoli	.	BS1, PP3
M	5	137727041	rs138862008	G	A	222	PASS	KDM3B	Lysine-specific demethylase 3B	exonic	NM_016604	.	missense SNV	KDM3B:NM_016604:exon8:c.G1720A:p.V574I	ENST00000510866.5,ENST00000542866.2,ENSG00000120733.13,ENST00000507996.5,ENST00000314358.9	.	5q31.2	.	.	.	.	.	rs138862008	.	.	0	.	0.000399361	7.7e-05	0.00003659	245986	0.00028992	17246	0.00038865	.	.	-0.0395	.	0.304,T	0.0,B	0.0,B	1,N	0.662596,N	-0.345,N	0.01,T	13.3339	-1.817	-1.337	.	.	0.00784772263327	VDB=0.667669;SGB=-0.693146;RPB=0.287318;MQB=9.35738e-14;MQSB=0.336361;BQB=0.653452;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=126;DP4=46,10,31,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/1:98:255,0,255:56,42	G	A	0	1	Lysine-specific demethylase 3B, 609373	.	.	.	10470851|11087669	GO_CHROMOSOME_ORGANIZATION;GO_PROTEIN_DEALKYLATION;GO_DEMETHYLATION;GO_CHROMATIN_MODIFICATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_DETOXIFICATION;GO_CHROMATIN_ORGANIZATION;GO_OXIDATION_REDUCTION_PROCESS;GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE;GO_RESPONSE_TO_TOXIC_SUBSTANCE	.	GO_DEMETHYLASE_ACTIVITY;GO_HISTONE_DEMETHYLASE_ACTIVITY;GO_DIOXYGENASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY	.	.	.	.	Nuclear expression in several different tissue types.	http://www.proteinatlas.org/ENSG00000120733-KDM3B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 23.0	nucleus but not nucleoli	.	BP4, PM2
L	5	138260305	.	G	T	222	PASS	CTNNA1	Catenin (cadherin-associated protein), alpha 1, 102kD	exonic	NM_001290307,NM_001290309,NM_001290310,NM_001290312,NM_001323982,NM_001323983,NM_001323984,NM_001323985,NM_001323986,NM_001323987,NM_001323988,NM_001323989,NM_001323990,NM_001323991,NM_001323992,NM_001323993,NM_001323994,NM_001323995,NM_001323996,NM_001323997,NM_001323998,NM_001323999,NM_001324000,NM_001324001,NM_001324002,NM_001324003,NM_001324004,NM_001324005,NM_001324006,NM_001324007,NM_001324008,NM_001324009,NM_001324010,NM_001324011,NM_001324012,NM_001324013,NM_001903	.	synonymous SNV	CTNNA1:NM_001324010:exon3:c.G204T:p.R68R,CTNNA1:NM_001324012:exon4:c.G300T:p.R100R,CTNNA1:NM_001290312:exon6:c.G543T:p.R181R,CTNNA1:NM_001323987:exon6:c.G543T:p.R181R,CTNNA1:NM_001323994:exon6:c.G543T:p.R181R,CTNNA1:NM_001324001:exon6:c.G543T:p.R181R,CTNNA1:NM_001324002:exon6:c.G543T:p.R181R,CTNNA1:NM_001324004:exon6:c.G543T:p.R181R,CTNNA1:NM_001323989:exon7:c.G543T:p.R181R,CTNNA1:NM_001323991:exon7:c.G543T:p.R181R,CTNNA1:NM_001324000:exon7:c.G543T:p.R181R,CTNNA1:NM_001324008:exon7:c.G204T:p.R68R,CTNNA1:NM_001324009:exon7:c.G204T:p.R68R,CTNNA1:NM_001324013:exon7:c.G300T:p.R100R,CTNNA1:NM_001323990:exon8:c.G543T:p.R181R,CTNNA1:NM_001324003:exon8:c.G543T:p.R181R,CTNNA1:NM_001324011:exon8:c.G450T:p.R150R,CTNNA1:NM_001323988:exon9:c.G543T:p.R181R,CTNNA1:NM_001323992:exon9:c.G543T:p.R181R,CTNNA1:NM_001323993:exon9:c.G543T:p.R181R,CTNNA1:NM_001323995:exon9:c.G543T:p.R181R,CTNNA1:NM_001323996:exon9:c.G543T:p.R181R,CTNNA1:NM_001323997:exon9:c.G543T:p.R181R,CTNNA1:NM_001323998:exon9:c.G543T:p.R181R,CTNNA1:NM_001323999:exon9:c.G543T:p.R181R,CTNNA1:NM_001324005:exon9:c.G543T:p.R181R,CTNNA1:NM_001324007:exon9:c.G204T:p.R68R,CTNNA1:NM_001324006:exon10:c.G204T:p.R68R,CTNNA1:NM_001290309:exon11:c.G1344T:p.R448R,CTNNA1:NM_001323986:exon11:c.G1560T:p.R520R,CTNNA1:NM_001290307:exon12:c.G1653T:p.R551R,CTNNA1:NM_001290310:exon12:c.G1284T:p.R428R,CTNNA1:NM_001323983:exon12:c.G1653T:p.R551R,CTNNA1:NM_001323985:exon12:c.G1653T:p.R551R,CTNNA1:NM_001903:exon12:c.G1653T:p.R551R,CTNNA1:NM_001323982:exon13:c.G1653T:p.R551R,CTNNA1:NM_001323984:exon13:c.G1653T:p.R551R	ENST00000521387.1,ENST00000627109.2,ENST00000540387.5,ENST00000521724.5,ENSG00000044115.20,ENST00000302763.11,ENST00000521368.5,ENST00000519489.1,ENST00000518825.5	.	5q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4308	.	.	.	.	.	.	.	.	.	-0.319	-0.234	1.083820,11.13	.	.	VDB=0.313961;SGB=-0.693144;RPB=0.358865;MQB=1.49984e-11;MQSB=0.310367;BQB=0.773986;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=108;DP4=23,17,16,23;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:79:255,0,255:40,39	G	T	0	1	Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant	.	.	.	5442145|20393555|8404069|7626889|1924379|1638632|22421363|16543460|17159988|8188230|1904011|7601473|8323564|10882138|26691986|17989230|1394201|11867572|11239416	GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_RESPONSE_TO_STEROID_HORMONE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_APICAL_JUNCTION_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGENERATION;GO_RESPONSE_TO_AXON_INJURY;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_OVULATION_CYCLE;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_AXON_REGENERATION;GO_CELL_CELL_ADHESION;GO_PROTEIN_OLIGOMERIZATION;GO_NEGATIVE_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_AGING;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EPITHELIAL_CELL_CELL_ADHESION;GO_OVARIAN_FOLLICLE_DEVELOPMENT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CELL_JUNCTION_ORGANIZATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_OVULATION_CYCLE_PROCESS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_RESPONSE_TO_HORMONE;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ESTROGEN;GO_REGULATION_OF_NEUROBLAST_PROLIFERATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_FEMALE_SEX_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_NEURON_PROJECTION_REGENERATION;GO_SEX_DIFFERENTIATION;GO_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RHYTHMIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_CELL_JUNCTION_ASSEMBLY;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_CELL_CELL_JUNCTION_ASSEMBLY;GO_ACTIN_FILAMENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_MALE_SEX_DIFFERENTIATION;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_ODONTOGENESIS;GO_PROTEIN_HETEROOLIGOMERIZATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CELL_CELL_CONTACT_ZONE;GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_INTERCALATED_DISC;GO_ACTIN_CYTOSKELETON;GO_SECRETORY_VESICLE;GO_APICAL_JUNCTION_COMPLEX;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_CELL_CELL_ADHERENS_JUNCTION;GO_MEMBRANE_MICRODOMAIN;GO_MEMBRANE_PROTEIN_COMPLEX;GO_LAMELLIPODIUM;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_ACROSOMAL_VESICLE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_GOLGI_APPARATUS;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_RAFT;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_BETA_CATENIN_BINDING;GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_POLY_A_RNA_BINDING;GO_GAMMA_CATENIN_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_CADHERIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_RNA_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_MET_PATHWAY;PID_ARF6_TRAFFICKING_PATHWAY;PID_NECTIN_PATHWAY;PID_CDC42_PATHWAY;PID_AJDISS_2PATHWAY;PID_ECADHERIN_NASCENT_AJ_PATHWAY;PID_ECADHERIN_KERATINOCYTE_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_NCADHERIN_PATHWAY;PID_RAC1_PATHWAY	BIOCARTA_CELL2CELL_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS;REACTOME_CELL_CELL_JUNCTION_ORGANIZATION;REACTOME_CELL_JUNCTION_ORGANIZATION;REACTOME_MYOGENESIS	Membranous and cytoplasmic expression in all tissues at variable levels.	http://www.proteinatlas.org/ENSG00000044115-CTNNA1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 150.9	plasma membrane; cell junctions	.	BP7, PM2
L	5	139228078	rs185375193	T	C	135	PASS	NRG2	Neuregulin 2	exonic	NM_001184935,NM_004883,NM_013981,NM_013982,NM_013983	.	synonymous SNV	NRG2:NM_001184935:exon8:c.A1779G:p.G593G,NRG2:NM_004883:exon10:c.A1977G:p.G659G,NRG2:NM_013981:exon10:c.A1959G:p.G653G,NRG2:NM_013982:exon11:c.A2001G:p.G667G,NRG2:NM_013983:exon11:c.A1983G:p.G661G	ENST00000361474.5,ENSG00000250692.1,ENST00000289409.8,ENST00000289422.11,ENSG00000158458.19,ENST00000358522.7,ENST00000541337.5,ENST00000340391.7,ENST00000504413.1	CpG: 78	5q31.2	.	.	.	.	Score=40;Name="3803842:GC_rich(Low_complexity)"	rs185375193	.	.	.	.	.	.	0.00107846	29672	.	.	0.07919437	0.01254480	.	.	.	.	.	.	.	.	.	.	.	0.222	-1.060	.	.	.	VDB=5.39569e-05;SGB=-0.651104;RPB=0.0253494;MQB=0.00129335;MQSB=0.535261;BQB=0.875173;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=56;DP4=25,6,12,5;MinDP=30;AN=16;AC=2	GT:DP:PL:AD	0/0:30:.:.	./.:.:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/1:23:168,0,248:15,8	0/0:30:.:.	0/0:30:.:.	0/1:25:167,0,255:16,9	T	C	0	2	Neuregulin 2, 603818	.	.	.	15340081|9208852|9199335|9168115|9168114|10369162|10974560	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ERBB2_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_ERBB_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_INOSITOL_LIPID_MEDIATED_SIGNALING	GO_EXTRACELLULAR_SPACE	GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GROWTH_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY	PID_ERBB4_PATHWAY;PID_ERBB2_ERBB3_PATHWAY;PID_ERBB_NETWORK_PATHWAY	BIOCARTA_AGR_PATHWAY	REACTOME_SIGNALING_BY_ERBB4;REACTOME_DOWNREGULATION_OF_ERBB2_ERBB3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_GRB2_EVENTS_IN_ERBB2_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_SHC1_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4	Gastrointestinal tract, most cells in lymphoid tissues, urothelia, fallopian tube, respiratory epithelia, hepatocytes and seminal vesicle exhibited moderate cytoplasmic positivity combined with nuclear staining in a several cases. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000158458-NRG2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 3.8	nucleus; nucleoli	.	BP7
H	5	140256429	rs200154646	C	A	222	PASS	PCDHA12	Protocadherin-alpha 12	exonic	NM_018903,NM_031864	.	missense SNV	PCDHA12:NM_018903:exon1:c.C1372A:p.P458T,PCDHA12:NM_031864:exon1:c.C1372A:p.P458T	ENSG00000204970.9,ENST00000512229.2,ENSG00000204969.6,ENST00000526136.1,ENST00000525929.1,ENST00000531613.1,ENSG00000250120.6,ENST00000532602.1,ENST00000522353.2,ENST00000394633.7,ENST00000506939.6,ENSG00000204962.5,ENST00000530339.1,ENST00000398631.2,ENSG00000204967.6,ENST00000617408.1,ENSG00000251664.3,ENST00000529310.1,ENSG00000204965.8,ENST00000398640.6,ENSG00000204961.6,ENSG00000081842.13,ENST00000504120.3,ENST00000307360.5,ENST00000529859.1,ENSG00000255408.3,ENSG00000204963.4,ENST00000613593.1,ENSG00000249158.6,ENST00000529619.5,ENST00000527624.1	CpG: 127	5q31.3	.	.	.	.	.	rs200154646	.	.	0.00332226	0.003	0.000798722	.	0.00017315	277222	0.00243773	18870	0.00058298	.	.	.	Cadherin;Cadherin-like	0.036,D	0.252,B	0.304,B	1,D	.	0.98,L	0.17,T	13.4273	-0.069	-3.815	2.753701,21.1	.	0.015145794872	VDB=0.615617;SGB=-0.693147;RPB=0.990066;MQB=3.6056e-29;MQSB=0.994152;BQB=0.999824;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=295;DP4=62,45,61,46;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:214:255,0,255:107,107	C	A	0	1	Protocadherin-alpha 12, 606318	.	.	.	17172445|10380929|11230163	GO_CELL_CELL_ADHESION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	.	GO_CALCIUM_ION_BINDING	.	.	.	.	Cytoplasmic expression in CNS and peripheral nerves.	http://www.proteinatlas.org/ENSG00000251664-PCDHA12/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 1.0	plasma membrane; cytoplasm	.	PM1, PM2
L	5	140568874	rs574397776	C	G	222	PASS	PCDHB9	Protocadherin-beta 9	exonic	NM_019119	.	unknown	UNKNOWN	ENSG00000177839.6,ENST00000316105.6_1,ENSG00000280029.3,ENST00000624549.1,ENST00000316105.6,ENSG00000278936.1,ENST00000624192.1	CpG: 84	5q31.3	.	.	Score=895;Name=V$NMYC_01	Score=0.953774;Name=chr5:140580569	.	rs574397776	.	.	0.00498339	0.004	0.000798722	.	0.00023368	269598	0.00339001	18584	0.00738725	0.00968310	.	.	.	.	.	.	.	.	.	.	.	-0.674	-6.371	.	.	.	VDB=0.124336;SGB=-0.693021;RPB=0.666816;MQB=1.17855e-06;MQSB=0.994549;BQB=0.767012;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=115;DP4=35,26,12,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:40:.:.	0/0:100:.:.	0/0:64:.:.	0/0:50:.:.	0/0:63:.:.	0/0:30:.:.	0/0:54:.:.	0/0:60:.:.	0/1:88:255,0,255:61,27	C	G	0	1	Protocadherin-beta 9, 606335	.	.	.	11322959|10380929|11230163	GO_SYNAPSE_ORGANIZATION;GO_CELL_CELL_SIGNALING;GO_CALCIUM_DEPENDENT_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION;GO_SYNAPTIC_SIGNALING;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION;GO_SYNAPSE_ASSEMBLY	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000177839-PCDHB9/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 1.8	.	.	.
L	5	140627397	rs201079466	T	C	222	PASS	PCDHB15	Protocadherin-beta 15	exonic	NM_018935	.	missense SNV	PCDHB15:NM_018935:exon1:c.T2251C:p.Y751H	ENST00000231173.5,ENSG00000113248.5	.	5q31.3	.	.	.	Score=0.952865;Name=chr5:140475604	.	rs201079466	.	.	0.0116279	0.0079	0.00179712	.	0.00032824	277236	0.00471748	18866	0.00330354	0.00352113	.	.	.	0.0,D	0.02,B	0.017,B	0.723539,D	.	3.015,M	2.49,T	8.6714	1.745	2.491	5.223896,25.6	3.14	0.0114788300951	VDB=0.240838;SGB=-0.693145;RPB=0.426201;MQB=1.45543e-12;MQSB=0.93033;BQB=0.780741;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=260;DP4=63,36,64,40;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:85:255,0,255:44,41	0/0:50:.:.	0/0:51:.:.	0/1:118:255,0,255:55,63	T	C	0	2	Protocadherin-beta 15, 606341	.	.	.	10380929|11230163	GO_CELL_CELL_ADHESION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_PHOTORECEPTOR_CONNECTING_CILIUM;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_PRIMARY_CILIUM;GO_CILIUM	GO_CALCIUM_ION_BINDING	.	.	.	.	Weak to moderate cytoplasmic positivity in most tissues, with strongest positivity in myocytes.	http://www.proteinatlas.org/ENSG00000113248-PCDHB15/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 6.1	.	.	.
M	5	140682543	rs200557097	T	C	177	PASS	SLC25A2	Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2	exonic	NM_031947	.	missense SNV	SLC25A2:NM_031947:exon1:c.A890G:p.Q297R	ENSG00000120329.6,ENSG00000178913.7,ENST00000624699.1,ENST00000239451.6	.	5q31.3	.	.	.	.	.	rs200557097	.	.	0.00498339	0.004	0.000998403	.	0.00019964	275496	0.00281197	18848	0.00077730	0.00088496	.	.	.	0.341,T	0.222,B	0.188,B	0.999852,N	0.000374,D	0.925,L	-1.2,T	4.1984	0.275	3.263	.	.	0.0149372346747	VDB=0.0285745;SGB=-0.662043;RPB=0.94394;MQB=0.00141009;MQSB=0.426531;BQB=0.476739;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=6,10,6,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:15:.:.	0/0:30:.:.	0/0:30:.:.	0/1:25:210,0,255:16,9	T	C	0	1	Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2, 608157	.	.	.	12948741	GO_ION_TRANSPORT;GO_L_ALPHA_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_NITROGEN_CYCLE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_L_AMINO_ACID_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_CATION_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_PEPTIDE_METABOLIC_PROCESS;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_AMINO_ACID_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_TRANSMEMBRANE_TRANSPORT	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_L_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_STRUCTURAL_CONSTITUENT_OF_RIBOSOME;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000120329-SLC25A2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM2
L	5	140724591	rs72790006	G	T	222	PASS	PCDHGA3	Protocadherin-gamma, subfamily A, member 3	exonic	NM_018916,NM_032011	.	missense SNV	PCDHGA3:NM_018916:exon1:c.G991T:p.A331S,PCDHGA3:NM_032011:exon1:c.G991T:p.A331S	ENST00000612467.1,ENST00000517417.2,ENSG00000081853.14,ENST00000619750.1,ENSG00000204956.5,ENST00000394576.2,ENSG00000254245.2,ENST00000253812.7	.	5q31.3	.	.	.	.	.	rs72790006	.	.	0.0465116	0.0387	0.0235623	0.0204	0.02662434	277190	0.04272236	18866	0.03245239	0.03433099	.	.	Cadherin;Cadherin-like	0.618,T	0.259,B	0.295,B	0.585176,D	0.005380,U	1.42,L	4.67,T	6.9835	0.785	0.046	0.932297,10.27	3.64	.	VDB=0.939981;SGB=-0.693143;RPB=0.866796;MQB=7.78236e-13;MQSB=0.967296;BQB=0.992966;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=300;DP4=83,33,77,32;MinDP=38;AN=18;AC=3	GT:DP:PL:AD	0/0:38:.:.	0/0:50:.:.	0/1:83:255,0,255:45,38	0/0:64:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:37,32	0/1:73:255,0,255:34,39	G	T	0	3	Protocadherin-gamma, subfamily A, member 3, 606290	.	.	.	10380929|11230163	GO_LYSOSOMAL_TRANSPORT;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_VACUOLAR_TRANSPORT;GO_PROTEIN_LIPID_COMPLEX_ASSEMBLY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELL_CELL_ADHESION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PROTEIN_LIPID_COMPLEX_SUBUNIT_ORGANIZATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGANELLE_FUSION	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000254245-PCDHGA3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	heart muscle: 2.0	centrosome; nucleus but not nucleoli	.	BS1, PM1
L	5	140783206	rs377402370	T	C	222	PASS	PCDHGA9	Protocadherin-gamma, subfamily A, member 9	exonic	NM_018921,NM_032089	.	synonymous SNV	PCDHGA9:NM_018921:exon1:c.T687C:p.H229H,PCDHGA9:NM_032089:exon1:c.T687C:p.H229H	ENSG00000253910.2,ENSG00000253731.2,ENSG00000254221.2,ENSG00000253537.2,ENSG00000276547.1,ENST00000616887.1,ENSG00000262576.2,ENSG00000253953.2,ENST00000612467.1,ENSG00000261934.2,ENST00000571252.2,ENSG00000253485.2,ENST00000523390.1,ENST00000517417.2,ENST00000518069.1,ENST00000519479.1,ENST00000576222.1,ENST00000573521.1,ENST00000522605.1,ENST00000517434.2,ENSG00000081853.14,ENSG00000204956.5,ENST00000617380.1,ENST00000394576.2,ENST00000398604.2,ENSG00000262209.2,ENSG00000253767.2,ENSG00000254245.2,ENST00000518325.1,ENST00000253812.7	.	5q31.3	.	.	.	.	.	rs377402370	.	.	0	0.001	0.000199681	.	0.00025624	277080	0.00360475	18864	0.00330354	.	.	.	.	.	.	.	.	.	.	.	.	-2.705	-8.928	.	.	.	VDB=5.89725e-05;SGB=-0.693147;RPB=0.497703;MQB=5.88064e-39;MQSB=0.710368;BQB=0.825579;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=363;DP4=106,40,97,32;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:275:255,0,255:146,129	T	C	0	1	Protocadherin-gamma, subfamily A, member 9, 606296	.	.	.	10380929|11230163	GO_CELL_CELL_ADHESION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	.	GO_CALCIUM_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000261934-PCDHGA9/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 4.6	.	.	BP7, PM2
L	5	140802519	rs759618535	C	T	222	PASS	PCDHGA11	Protocadherin-gamma, subfamily A, member 11	exonic	NM_018914,NM_032091,NM_032092	.	synonymous SNV	PCDHGA11:NM_018914:exon1:c.C1725T:p.G575G,PCDHGA11:NM_032091:exon1:c.C1725T:p.G575G,PCDHGA11:NM_032092:exon1:c.C1725T:p.G575G	ENSG00000253910.2,ENSG00000253731.2,ENSG00000253873.5,ENSG00000254221.2,ENSG00000253537.2,ENSG00000276547.1,ENST00000398587.6,ENSG00000262576.2,ENSG00000253305.2,ENSG00000253953.2,ENST00000612467.1,ENSG00000261934.2,ENST00000571252.2,ENST00000398594.3,ENSG00000253485.2,ENST00000523390.1,ENST00000517417.2,ENST00000518069.1,ENST00000519479.1,ENST00000398610.2,ENST00000520790.1,ENST00000576222.1,ENST00000573521.1,ENST00000522605.1,ENST00000517434.2,ENST00000622044.1,ENSG00000081853.14,ENSG00000253846.2,ENSG00000204956.5,ENST00000518882.2,ENST00000617380.1,ENST00000394576.2,ENST00000398604.2,ENSG00000262209.2,ENSG00000253767.2,ENSG00000254122.2,ENSG00000254245.2,ENST00000518325.1,ENST00000253812.7	CpG: 40	5q31.3	.	.	.	.	.	rs759618535	.	.	.	.	.	.	0.00002437	246170	0.00034787	17248	0.00058298	.	.	.	.	.	.	.	.	.	.	.	.	-3.307	-8.948	.	.	.	VDB=0.819053;SGB=-0.693147;RPB=0.980567;MQB=7.72998e-18;MQSB=0.95129;BQB=0.994848;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=203;DP4=59,22,57,21;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:159:255,0,255:81,78	C	T	0	1	Protocadherin-gamma, subfamily A, member 11, 606298	.	.	.	10380929|11230163	GO_CELL_CELL_ADHESION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000253873-PCDHGA11/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 2.3	.	.	BP7, PM2
L	5	140953572	.	A	AGGTGGT	144	PASS	DIAPH1	Diaphanous, Drosophila, homolog of, 1	exonic	NM_001079812,NM_001314007,NM_005219	.	nonframeshift insertion	DIAPH1:NM_001079812:exon15:c.1817_1818insACCACC:p.P606delinsPPP,DIAPH1:NM_001314007:exon16:c.1844_1845insACCACC:p.P615delinsPPP,DIAPH1:NM_005219:exon16:c.1844_1845insACCACC:p.P615delinsPPP	ENST00000398557.8,ENSG00000131504.15,ENST00000389054.7,ENST00000389057.9,ENST00000253811.10,ENST00000518047.5	.	5q31.3	.	.	.	.	Score=336;Name="3806932:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.383541;SGB=-0.686358;MQSB=0.943389;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=64;DP4=25,6,12,2;IDV=2;IMF=0.03125;MinDP=20;AN=16;AC=1	GT:DP:PL:AD	0/0:24:.:.	0/0:52:.:.	0/0:35:.:.	0/0:38:.:.	0/0:33:.:.	./.:.:.:.	0/0:20:.:.	0/0:22:.:.	0/1:45:178,0,255:31,14	A	AGGTGGT	0	1	Deafness, autosomal dominant 1, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive	.	.	.	26463574|17182868|24781755|12034774|9360932|27808407|15864301|26912466|12021256	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_SENSORY_PERCEPTION;GO_PROTEIN_LOCALIZATION_TO_CYTOSKELETON;GO_RESPONSE_TO_AMMONIUM_ION;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_ACTIN_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_PROTEIN_POLYMERIZATION;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_ACTIN_FILAMENT_POLYMERIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_CELL_SHAPE;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_HISTAMINE;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_MICROTUBULE_CYTOSKELETON;GO_MITOTIC_SPINDLE;GO_CELL_PROJECTION_MEMBRANE;GO_LEADING_EDGE_MEMBRANE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_RUFFLE_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_SPINDLE;GO_CELL_LEADING_EDGE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_RHO_GTPASE_BINDING;GO_ION_CHANNEL_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_GTPASE_BINDING;GO_RECEPTOR_BINDING;GO_RNA_BINDING	KEGG_FOCAL_ADHESION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_RHOA_PATHWAY;PID_ILK_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	BIOCARTA_ECM_PATHWAY;BIOCARTA_RHO_PATHWAY;BIOCARTA_MAL_PATHWAY	.	A majority of normal tissues displayed moderate to strong cytoplasmic immunoreactivity. Lymphoid tissues were in general weaker stained.	http://www.proteinatlas.org/ENSG00000131504-DIAPH1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 48.5	.	.	BP3, PM2
L	5	146889104	.	G	C	222	PASS	DPYSL3	Dihydropyrimidinase-like 3	exonic	NM_001197294	.	synonymous SNV	DPYSL3:NM_001197294:exon1:c.C318G:p.A106A	ENST00000343218.9,ENSG00000113657.12	CpG: 102	5q32	.	.	Score=887;Name=V$AP2_Q6	.	Score=25;Name="3818457:GC_rich(Low_complexity)"	.	.	.	.	.	.	.	0.00003138	159362	0.00043380	11526	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.536	-0.964	1.107491,11.26	.	.	VDB=0.626758;SGB=-0.69312;RPB=0.984619;MQB=2.12467e-08;MQSB=0.999357;BQB=0.988068;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=72;DP4=17,13,20,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:43:.:.	0/0:30:.:.	0/1:62:255,0,255:30,32	G	C	0	1	Dihydropyrimidinase-like 3, 601168	.	.	.	23568759|8551352|9115293|8973361|10748015	GO_NEURON_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_ACTIN_FILAMENT_BUNDLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_RESPONSE_TO_AXON_INJURY;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEUROGENESIS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_ACTIN_FILAMENT_ORGANIZATION;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_ACTIN_CYTOSKELETON;GO_EXOCYTIC_VESICLE;GO_SECRETORY_VESICLE;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_NEURON_PROJECTION;GO_EXTRACELLULAR_SPACE;GO_LAMELLIPODIUM;GO_SUPRAMOLECULAR_FIBER;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_TRANSPORT_VESICLE;GO_ACTIN_FILAMENT;GO_CELL_LEADING_EDGE;GO_FILAMENTOUS_ACTIN	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_SULFUR_COMPOUND_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_SH3_DOMAIN_BINDING;GO_FILAMIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_CRMPS_IN_SEMA3A_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS	Most normal cells were weakly stained or negative. Fallopian tube and ovarian stroma cells displayed strong cytoplasmic positive. Moderate cytoplasmic staining was observed in islet of Langerhans, renal glomeruli, Leydig cells, epididymis and smooth muscle.	http://www.proteinatlas.org/ENSG00000113657-DPYSL3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	urinary bladder: 73.5	cytoplasm	.	BP7, PM2
L	5	147012252	rs75918574	T	C	222	PASS	JAKMIP2	Janus kinase and microtubule-interacting protein 2	exonic	NM_001270934,NM_001270941,NM_001282282,NM_014790	.	synonymous SNV	JAKMIP2:NM_001270934:exon12:c.A1704G:p.L568L,JAKMIP2:NM_001282282:exon12:c.A1641G:p.L547L,JAKMIP2:NM_001270941:exon13:c.A1767G:p.L589L,JAKMIP2:NM_014790:exon13:c.A1767G:p.L589L	ENSG00000176049.15,ENST00000616793.4,ENSG00000280780.2,ENST00000630514.2,ENST00000504845.1,ENST00000627433.2,ENST00000626945.2,ENST00000507386.5,ENST00000265272.9,ENST00000333010.6	.	5q32	.	.	Score=815;Name=V$CEBP_C	.	.	rs75918574	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2794	.	.	.	.	.	.	.	.	.	1.113	0.393	.	4.58	.	VDB=0.140266;SGB=-0.691153;RPB=0.990277;MQB=6.74319e-06;MQSB=0.993048;BQB=0.389902;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=57;DP4=19,5,13,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:42:255,0,255:24,18	T	C	0	1	Janus kinase and microtubule-interacting protein 2, 611197	.	.	.	17572408|9628581|15277531	.	GO_GOLGI_APPARATUS	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_KINASE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_ENZYME_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic and membranous expression in several tissues.	http://www.proteinatlas.org/ENSG00000176049-JAKMIP2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	testis: 2.7	golgi apparatus	.	PM2
H	5	147553843	rs189357431	C	T	222	PASS	SPINK14	.	exonic	NM_001001325	.	missense SNV	SPINK14:NM_001001325:exon4:c.C158T:p.T53M	ENSG00000196800.6,ENST00000356972.1,ENST00000562793.5	.	5q32	.	.	.	.	.	rs189357431	.	.	0.00664452	0.004	0.000798722	.	0.00059782	195710	0.00761322	15368	0.00330033	0.00657895	.	-0.1334	Kazal domain	0.003,D	0.928,D	0.999,D	1,N	0.119380,N	.	-0.04,T	10.1897	0.579	-0.064	3.711126,23.3	.	0.0816667256294	VDB=0.315235;SGB=-0.693127;RPB=0.975298;MQB=1.48078e-12;MQSB=0.131137;BQB=0.390273;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=119;DP4=42,4,23,10;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:30:.:.	0/0:5:.:.	0/0:30:.:.	0/0:5:.:.	0/0:5:.:.	0/0:30:.:.	0/0:30:.:.	0/1:79:255,0,255:46,33	C	T	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_SERINE_TYPE_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_SERINE_TYPE_PEPTIDASE_ACTIVITY;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	.	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000196800-SPINK14/tissue	FPKM<0.5 in all tissues <Not detected>	rectum: 0.1	.	.	PM1
L	5	149578827	rs141026528	C	T	222	PASS	SLC6A7	Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7	exonic	NM_014228	.	synonymous SNV	SLC6A7:NM_014228:exon5:c.C621T:p.I207I	ENST00000230671.6,ENST00000524041.1,ENSG00000011083.8	.	5q32	.	.	.	.	.	rs141026528	.	.	0.00996678	0.0109	0.0109824	0.0028	0.00428378	275224	0.00738047	18698	0.01127089	0.01851852	.	-3.1244	.	.	.	.	.	.	.	.	.	0.027	-1.139	2.122023,17.00	.	.	VDB=0.14782;SGB=-0.693147;RPB=0.626061;MQB=2.44195e-15;MQSB=0.901036;BQB=0.799899;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=151;DP4=42,10,46,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:113:255,0,255:52,61	C	T	0	1	Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7, 606205	.	.	.	7651355	GO_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_NEUROTRANSMITTER_TRANSPORT;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_CATION_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_AMINO_ACID_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_NEUTRAL_AMINO_ACID_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SODIUM_AMINO_ACID_SYMPORTER_ACTIVITY;GO_ANION_CATION_SYMPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_L_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NEUROTRANSMITTER_SODIUM_SYMPORTER_ACTIVITY;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_SODIUM_SYMPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_CATION_AMINO_ACID_SYMPORTER_ACTIVITY;GO_SOLUTE_SODIUM_SYMPORTER_ACTIVITY;GO_NEUROTRANSMITTER_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_NA_CL_DEPENDENT_NEUROTRANSMITTER_TRANSPORTERS;REACTOME_AMINE_COMPOUND_SLC_TRANSPORTERS	RNA characterization data suggests expression in CNS. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000011083-SLC6A7/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 1.5	.	.	BP7
L	5	149636355	rs55856831	C	T	222	PASS	CAMK2A	Calcium/calmodulin-dependent protein kinase II-alpha	exonic	NM_015981,NM_171825	.	synonymous SNV	CAMK2A:NM_015981:exon5:c.G312A:p.R104R,CAMK2A:NM_171825:exon5:c.G312A:p.R104R	ENST00000398376.7,ENST00000508662.5,ENST00000348628.10,ENST00000515758.1,ENSG00000070808.15	.	5q32	.	.	.	.	.	rs55856831	.	.	0.0249169	0.0278	0.00638978	0.0002	0.00748493	277090	0.02592514	18862	0.02817723	0.02816901	.	-0.1357	.	.	.	.	.	.	.	.	.	1.145	0.927	2.116005,16.96	3.02	.	VDB=0.333281;SGB=-0.693143;RPB=0.363191;MQB=1.08511e-11;MQSB=0.609209;BQB=0.873797;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=98;DP4=23,15,20,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:76:255,0,255:38,38	C	T	0	1	Calcium/calmodulin-dependent protein kinase II-alpha, 114078	.	.	.	11459059|7939668|9452387|12408851|24077098|15131309|11357133|9452388|8602534|8816712|23051746|1354644|11509731|19295602|11710563|14687552|11799245|8980240|1321493|8939606|12495625	GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_MITOCHONDRIAL_MEMBRANE_PERMEABILITY_INVOLVED_IN_APOPTOTIC_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_METAL_ION_TRANSPORT;GO_PEPTIDYL_SERINE_MODIFICATION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_RESPONSE_TO_ANGIOTENSIN;GO_CELL_DEATH;GO_REGULATION_OF_NEUROTRANSMITTER_SECRETION;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_MITOCHONDRIAL_TRANSPORT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_WNT_SIGNALING_PATHWAY_CALCIUM_MODULATING_PATHWAY;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CATION_TRANSPORT;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_SYNAPTIC_PLASTICITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_ISCHEMIA;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_INNATE_IMMUNE_RESPONSE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_PROTEIN_PHOSPHORYLATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CALCIUM_ION_TRANSPORT;GO_INTERFERON_GAMMA_MEDIATED_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_IMMUNE_RESPONSE;GO_CELL_CYCLE;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_ION_TRANSPORT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_APOPTOTIC_MITOCHONDRIAL_CHANGES;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VESICLE_MEMBRANE;GO_EXCITATORY_SYNAPSE;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_MITOCHONDRION;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_CALMODULIN_BINDING;GO_CALMODULIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_GLUTAMATE_RECEPTOR_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_OOCYTE_MEIOSIS;KEGG_WNT_SIGNALING_PATHWAY;KEGG_LONG_TERM_POTENTIATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_GLIOMA	PID_WNT_NONCANONICAL_PATHWAY;PID_NETRIN_PATHWAY;PID_IFNG_PATHWAY;PID_PI3K_PLC_TRK_PATHWAY;PID_FGF_PATHWAY;PID_TGFBR_PATHWAY	BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_CACAM_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_STATHMIN_PATHWAY;BIOCARTA_CREB_PATHWAY	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_TRAFFICKING_OF_AMPA_RECEPTORS;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_UNBLOCKING_OF_NMDA_RECEPTOR_GLUTAMATE_BINDING_AND_ACTIVATION;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Selective expression in neuropil and neurons in CNS.	http://www.proteinatlas.org/ENSG00000070808-CAMK2A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skeletal muscle: 23.6	.	.	PP3
H-	5	150584981	rs114290039	C	G	222	PASS	CCDC69	.	exonic	NM_015621	.	missense SNV	CCDC69:NM_015621:exon2:c.G104C:p.G35A	ENST00000524344.5,ENST00000522179.1,ENSG00000198624.12,ENST00000521308.5,ENST00000518189.5,ENST00000355417.6,ENST00000522964.1	.	5q33.1	.	.	.	.	.	rs114290039	.	.	0.0215947	0.0218	0.00459265	0.0002	0.00273218	277068	0.02232001	18862	0.02623397	0.03080986	.	0.6580	.	0.112,T	0.196,B	0.496,P	1,N	0.200186,N	1.04,L	1.75,T	4.3269	0.378	0.064	2.187070,17.42	.	.	VDB=0.141883;SGB=-0.693145;RPB=0.0740599;MQB=3.37497e-12;MQSB=0.490087;BQB=0.99999;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=110;DP4=31,11,24,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:83:255,0,255:42,41	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000198624-CCDC69/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 96.0	plasma membrane; golgi apparatus; cytoskeleton (actin filaments)	.	.
L	5	154291414	rs141972048	T	C	222	PASS	GEMIN5	GEM-associated protein 5	exonic	NM_001252156,NM_015465	.	synonymous SNV	GEMIN5:NM_001252156:exon15:c.A2037G:p.G679G,GEMIN5:NM_015465:exon15:c.A2040G:p.G680G	ENST00000285873.7,ENSG00000082516.8	.	5q33.2	.	.	.	.	.	rs141972048	.	.	0.0365449	0.0317	0.00658946	0.0002	0.00203146	276648	0.02767449	18826	0.02370773	0.02200704	.	-2.6266	.	.	.	.	.	.	.	.	.	0.859	0.400	.	4.27	.	VDB=0.0209045;SGB=-0.690438;RPB=0.860958;MQB=6.62117e-06;MQSB=0.386128;BQB=0.999906;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=110;DP4=20,23,16,21;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:40:23,17	0/0:.:50:.	0/0:.:31:.	0/0:.:50:.	0/0:.:30:.	0/0:.:51:.	0/0:.:51:.	0/0:.:50:.	0/1:255,0,255:40:20,20	T	C	0	2	GEM-associated protein 5, 607005	.	.	.	16857593|11714716	GO_MRNA_PROCESSING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_RNA_PROCESSING;GO_NUCLEAR_TRANSPORT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_NUCLEAR_IMPORT;GO_MRNA_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RNA_SPLICING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SPLICEOSOMAL_SNRNP_ASSEMBLY	GO_SMN_COMPLEX;GO_GEMINI_OF_COILED_BODIES;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART;GO_SMN_SM_PROTEIN_COMPLEX	GO_SNRNA_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_METABOLISM_OF_NON_CODING_RNA;REACTOME_METABOLISM_OF_RNA	Most of the normal tissues displayed moderate to strong cytoplasmic and occasional nuclear positivity. The liver, glial cells, red pulp of spleen and cardiac myocytes were weakly stained.	http://www.proteinatlas.org/ENSG00000082516-GEMIN5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 7.0	nucleus; cytoplasm	.	.
H	5	156479569	.	G	GTTT	228	PASS	HAVCR1	Hepatitis A virus cellular receptor 1	exonic	NM_001173393,NM_001308156,NM_012206	.	nonframeshift insertion	HAVCR1:NM_012206:exon3:c.475_476insAAA:p.T159delinsKT,HAVCR1:NM_001173393:exon4:c.475_476insAAA:p.T159delinsKT,HAVCR1:NM_001308156:exon4:c.475_476insAAA:p.T159delinsKT	ENST00000625904.2,ENST00000518745.1,ENST00000339252.7,ENSG00000113249.12,ENST00000523175.5,ENST00000522693.5	.	5q33.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.225174,2.912	.	.	INDEL;VDB=1.73348e-05;SGB=-0.693147;MQSB=0.541129;MQ0F=0;MQ=44;DP=423;DP4=0,3,131,127;IDV=4;IMF=0.0171674;MinDP=13;AN=12;AC=4	GT:PL:DP:AD	1/1:255,255,0:151:3,148	./.:.:.:.	./.:.:.:.	0/0:.:17:.	0/0:.:14:.	0/0:.:15:.	./.:.:.:.	0/0:.:13:.	1/1:255,255,0:110:0,110	G	GTTT	2	0	Hepatitis A virus cellular receptor 1, 606518	.	.	.	16284246|9658108|18414680|15153541|21339644|11725301|14534576|15793576|17960135|18294362|17363299|15793575|11905816|20566714	GO_MOVEMENT_IN_ENVIRONMENT_OF_OTHER_ORGANISM_INVOLVED_IN_SYMBIOTIC_INTERACTION;GO_INTERACTION_WITH_HOST;GO_LOCOMOTION;GO_VIRAL_LIFE_CYCLE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS	GO_MOTILE_CILIUM;GO_CELL_PROJECTION;GO_CILIUM	GO_VIRUS_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000113249-HAVCR1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.4	vesicles	.	PM2, PM4
H+	5	176477835	rs199731522	C	G	222	PASS	ZNF346	Zinc finger protein 346	exonic	NM_001308213,NM_001308214,NM_001308218,NM_012279	.	missense SNV	ZNF346:NM_001308218:exon2:c.C307G:p.Q103E,ZNF346:NM_001308214:exon4:c.C505G:p.Q169E,ZNF346:NM_012279:exon5:c.C601G:p.Q201E,ZNF346:NM_001308213:exon6:c.C676G:p.Q226E	ENST00000503039.1,ENST00000358149.7,ENST00000503425.5,ENST00000513587.5,ENST00000511834.5,ENSG00000113761.11,ENST00000508155.5,ENST00000512315.5,ENST00000506693.5,ENST00000504600.1	.	5q35.2	.	.	Score=763;Name=V$TCF11MAFG_01	.	.	rs199731522	.	.	0	.	0.000199681	0.0003	0.00012628	277172	0.00042395	18870	0.00038865	0.00088183	.	1.0449	Zinc finger, C2H2;Zinc finger, C2H2-like;Zinc finger, U1-type	0.087,T	0.194,B	0.321,B	1,N	0.004879,N	1.41,L	2.07,T	9.4038	1.265	2.666	0.968697,10.48	3.46	0.00522072302663	VDB=0.372996;SGB=-0.693127;RPB=0.641246;MQB=3.34568e-10;MQSB=0.934137;BQB=0.429271;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=86;DP4=20,10,23,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:63:255,0,255:30,33	C	G	0	1	Zinc finger protein 346, 605308	.	.	.	10488071	GO_CELL_DEATH;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR	GO_NUCLEOLUS	GO_TRANSITION_METAL_ION_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_DOUBLE_STRANDED_RNA_BINDING;GO_P53_BINDING;GO_RNA_BINDING	.	.	.	.	General nuclear staining.	http://www.proteinatlas.org/ENSG00000113761-ZNF346/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 11.6	nucleus	.	PM1, PM2
L	5	176964875	rs760584311	G	A	222	PASS	FAM193B	Family with sequence similarity 193, member B	exonic	NM_001190946	.	synonymous SNV	FAM193B:NM_001190946:exon3:c.C687T:p.P229P	ENSG00000146067.15,ENST00000514747.5,ENST00000506955.5,ENST00000515394.1,ENST00000510479.5,ENST00000508298.5	.	5q35.3	.	.	.	.	.	rs760584311	.	.	.	.	.	.	0.00007088	268076	0.00053984	18524	0.00038865	.	0.0001,0.026	0.0250	.	.	.	.	.	.	.	.	.	-1.668	-0.843	1.106585,11.25	.	.	VDB=0.39434;SGB=-0.693145;RPB=0.847951;MQB=3.50372e-10;MQSB=0.566972;BQB=0.900328;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=94;DP4=18,10,34,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:28,41	G	A	0	1	Family with sequence similarity 193, member B, 615813	.	.	.	11572484|21177767	.	.	.	.	.	.	.	Normal tissues displayed strong nuclear immunoreactivity with additional cytoplasmic staining in some cases.	http://www.proteinatlas.org/ENSG00000146067-FAM193B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 40.5	nucleus; nucleoli	.	BP7, PM2
L	5	177034406	rs373068387	C	T	222	PASS	B4GALT7	Xylosylprotein 4-beta-galactosyltransferase, polypeptide 7	exonic	NM_007255	.	synonymous SNV	B4GALT7:NM_007255:exon3:c.C517T:p.L173L	ENST00000502420.1,ENST00000505145.1,ENSG00000027847.13,ENST00000505433.5,ENST00000515353.1,ENST00000029410.9	.	5q35.3	.	.	Score=783;Name=V$COMP1_01	.	.	rs373068387	.	.	0.00166113	0.005	0.00119808	.	0.00011907	277156	0.00148415	18866	0.00038865	0.00088183	.	-0.0845	.	.	.	.	.	.	.	.	.	1.161	3.503	1.358077,12.57	4.28	.	VDB=0.454598;SGB=-0.693147;RPB=0.648559;MQB=2.13475e-23;MQSB=0.864398;BQB=0.986377;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=202;DP4=61,22,59,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/1:160:255,0,255:83,77	C	T	0	1	Ehlers-Danlos syndrome with short stature and limb anomalies, 130070 (3), Autosomal recessive	.	.	.	10473568|1640425|24755949|15211654|18158310|23956117|3631078|10894925|10506123|10438455|1221956|26940150	GO_PROTEIN_N_LINKED_GLYCOSYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_FIBRIL_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_GLYCOSYLATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_EXTRACELLULAR_FIBRIL_ORGANIZATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_EXTRACELLULAR_MATRIX;GO_GOLGI_STACK;GO_GOLGI_CISTERNA;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS;GO_GOLGI_CISTERNA_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	GO_UDP_GALACTOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_MANGANESE_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GALACTOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE;KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES	General cytoplasmic expression with a Golgi pattern.	http://www.proteinatlas.org/ENSG00000027847-B4GALT7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 13.4	.	.	.
H	5	178040718	rs770920359	T	C	222	PASS	CLK4	CDC-like kinase 4	splicing	NM_020666	NM_020666:exon6:c.659+10A>G	.	.	ENST00000611733.4,ENSG00000113240.12,ENST00000520878.5,ENST00000521621.5,ENST00000611575.4,ENST00000522136.5,ENST00000316308.8,ENST00000519132.5,ENST00000519583.5	.	5q35.3	.	.	Score=884;Name=V$NKX3A_01	.	.	rs770920359	.	.	.	.	.	.	0.00001093	274548	0.00010646	18786	.	.	.	-0.8309	.	.	.	.	.	.	.	.	.	0.024	0.231	.	.	.	VDB=0.342678;SGB=-0.69312;RPB=0.511532;MQB=0.963319;MQSB=0.890892;BQB=0.994552;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=81;DP4=15,10,24,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:45:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:45:.:.	0/0:50:.:.	0/1:57:255,0,255:25,32	T	C	0	1	CDC-like kinase 4, 607969	.	.	.	11170754	GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RNA_SPLICING	.	GO_PROTEIN_SERINE_THREONINE_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Nuclear positivity in most tissues.	http://www.proteinatlas.org/ENSG00000113240-CLK4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 15.1	cytoskeleton (actin filaments)	.	PM2
H	5	178634696	rs768334305	C	A	222	PASS	ADAMTS2	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase)	exonic	NM_014244,NM_021599	.	missense SNV	ADAMTS2:NM_014244:exon4:c.G709T:p.D237Y,ADAMTS2:NM_021599:exon4:c.G709T:p.D237Y	ENSG00000087116.14,ENST00000274609.5,ENST00000251582.11	.	5q35.3	.	.	Score=795;Name=V$OLF1_01	.	.	rs768334305	.	.	.	.	.	.	0.00007984	275546	0.00111536	18828	0.00077730	0.00088339	.	-0.0439	.	0.007,D	0.748,P	0.986,D	0.990482,D	0.130557,U	2.015,M	0.12,T	14.4968	1.260	1.971	3.229454,22.8	4.48	0.0461606292882	VDB=0.0316046;SGB=-0.693146;RPB=0.548875;MQB=2.23483e-14;MQSB=0.453789;BQB=0.877211;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=134;DP4=26,29,18,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/1:98:255,0,255:55,43	C	A	0	1	Ehlers-Danlos syndrome, type VIIC, 225410 (3), Autosomal recessive	.	.	.	15373769|16046392|10417273|10464288	GO_COLLAGEN_FIBRIL_ORGANIZATION;GO_PROTEIN_MATURATION;GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_TUBE_DEVELOPMENT;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REPRODUCTION;GO_SKIN_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	Most of the normal tissues displayed moderate cytoplasmic positivity. Additional nuclear staining was observed in squamous epithelia. Hepatocytes, renal tubules and Purkinje cells showed strong staining. The bile ducts, alveolar cells, glial cells and reaction center cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000087116-ADAMTS2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	smooth muscle: 14.5	.	.	BP1, PM2, PP3
L	5	179193538	.	G	C	222	PASS	MAML1	Mastermind, Drosophila, homolog of, 1	exonic	NM_014757	.	synonymous SNV	MAML1:NM_014757:exon2:c.G1527C:p.V509V	ENST00000292599.3,ENST00000503050.5,ENSG00000161021.11	.	5q35.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	.	.	.	.	.	.	.	.	.	2.386	2.994	.	4.27	.	VDB=0.06481;SGB=-0.693147;RPB=0.568894;MQB=2.92271e-28;MQSB=0.63459;BQB=0.854391;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=252;DP4=60,37,52,51;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:200:255,0,255:97,103	G	C	0	1	Mastermind, Drosophila, homolog of, 1, 605424	.	.	.	19907488|8724849|16510869|11101851|17699740	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARDIAC_CONDUCTION_SYSTEM_DEVELOPMENT;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_MYOBLAST_DIFFERENTIATION;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NOTCH_SIGNALING_PATHWAY;GO_HEART_DEVELOPMENT;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_CARDIOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_MUSCLE_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_CARDIAC_CELL_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	GO_KINASE_BINDING;GO_AMIDE_BINDING;GO_PEPTIDE_ANTIGEN_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ENZYME_BINDING;GO_ANTIGEN_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HES_HEY_PATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_NOTCH	Normal tissues showed moderate to strong nuclear immunoreactivity which in several cases was combined with weaker cytoplasmic positivity. The liver and pancreatic islet cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000161021-MAML1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 13.2	nucleus but not nucleoli	.	PM2
L	6	2766478	rs530701080	C	T	222	PASS	WRNIP1	Werner helicase-interacting protein 1	exonic	NM_020135,NM_130395	.	missense SNV	WRNIP1:NM_020135:exon1:c.C622T:p.P208S,WRNIP1:NM_130395:exon1:c.C622T:p.P208S	ENST00000380769.8,ENST00000618555.4,ENST00000380771.8,ENST00000380773.8,ENSG00000124535.15	CpG: 163	6p25.2	.	.	.	.	Score=21;Name="3891653:GC_rich(Low_complexity)"	rs530701080	.	.	0.00166113	0.002	0.000399361	.	0.00042120	128206	0.00578035	8650	0.00194326	0.00176367	.	.	.	0.146,T	0.16,B	0.689,P	1,N	0.047553,N	.	0.96,T	9.7133	0.134	-0.391	2.095780,16.83	.	.	VDB=0.210726;SGB=-0.693147;RPB=0.974585;MQB=2.55721e-12;MQSB=0.970373;BQB=0.637295;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=125;DP4=42,4,42,6;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:76:.:.	0/0:91:.:.	0/0:82:.:.	0/0:50:.:.	0/0:81:.:.	0/0:74:.:.	0/0:61:.:.	0/1:94:255,0,255:46,48	C	T	0	1	.	.	.	.	.	GO_REGULATION_OF_DNA_DEPENDENT_DNA_REPLICATION;GO_DNA_REPAIR;GO_DNA_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_DNA_SYNTHESIS_INVOLVED_IN_DNA_REPAIR;GO_REGULATION_OF_DNA_REPLICATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_DNA_METABOLIC_PROCESS	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_CHROMOSOME;GO_CHROMOSOME_TELOMERIC_REGION	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000124535-WRNIP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 35.7	nucleus but not nucleoli	.	.
L	6	3225721	rs201922441	C	G	91	PASS	TUBB2B	Tubulin, beta-2B	exonic	NM_178012	.	missense SNV	TUBB2B:NM_178012:exon4:c.G602C:p.C201S	ENSG00000137285.9,ENST00000259818.7,ENST00000473006.1	.	6p25.2	.	.	.	Score=0.997202;Name=chr6:3154100	.	rs201922441	Benign;not_specified;RCV000147840.1;MedGen;CN169374	.	.	.	.	.	0.00010361	250950	.	.	0.00019433	.	.	.	Tubulin/FtsZ, GTPase domain	.	0.67,P	0.001,B	1,D	0.002628,N	3.39,M	-0.41,T	15.507	1.135	0.931	4.017967,23.6	4.27	0.0613303524451	VDB=0.278288;SGB=-0.693147;RPB=0.0547752;MQB=5.66511e-21;MQSB=0.158089;BQB=0.98443;MQ0F=0;ICB=1;HOB=0.5;MQ=38;DP=570;DP4=188,143,70,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:128:.:.	0/0:107:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:163:.:.	0/0:131:.:.	0/0:101:.:.	0/1:429:126,0,255:331,98	C	G	0	1	Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant	.	.	.	23246003|23001566|25059107|11425694|22333901|19465910|25140959|26732629|20191564|23727838	GO_MICROTUBULE_BASED_PROCESS;GO_CELL_MOTILITY;GO_LOCOMOTION;GO_NEURON_MIGRATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER	GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_GAP_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	REACTOME_PREFOLDIN_MEDIATED_TRANSFER_OF_SUBSTRATE_TO_CCT_TRIC;REACTOME_PROTEIN_FOLDING;REACTOME_FORMATION_OF_TUBULIN_FOLDING_INTERMEDIATES_BY_CCT_TRIC;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	Cytoplasmic expression in most tissues, most abundant in ciliated cells and peripheral nerves.	http://www.proteinatlas.org/ENSG00000137285-TUBB2B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 10.7	.	.	BP6, PP2
H	6	7580346	rs184154918	G	A	222	PASS	DSP	Desmoplakin	exonic	NM_001319034,NM_004415	.	missense SNV	DSP:NM_001319034:exon23:c.G3923A:p.R1308Q,DSP:NM_004415:exon23:c.G3923A:p.R1308Q	ENST00000379802.7,ENST00000418664.2,ENSG00000096696.13	.	6p24.3	.	.	Score=864;Name=V$GRE_C	.	.	rs184154918	other|Likely benign|Likely benign|Likely benign|Likely benign|Benign|Benign;not_specified|Skin_fragility_woolly_hair_syndrome|Cardiomyopathy,_ARVC|Epidermolysis_bullosa,_lethal_acantholytic|Ectodermal_dysplasia_skin_fragility_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma;RCV000154711.4|RCV000262391.1|RCV000297493.1|RCV000301232.1|RCV000354640.1|RCV000471904.1|RCV000471904.1;MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet;CN169374|C1843292:607655:ORPHA293165|CN239181|C1864826:609638:ORPHA158687|C1858302:604536:ORPHA158668|C1843896:607450|C1854063:605676:ORPHA65282	.	0.0166113	0.0159	0.00319489	7.7e-05	0.00116476	276452	0.01659773	18858	0.00913331	0.00792254	.	-0.0288	.	0.174,T	0.091,B	0.804,P	1,N	0.000018,D	1.1,L	-2.94,D	12.965	2.495	3.628	1.834440,15.19	5.27	.	VDB=0.00505567;SGB=-0.69311;RPB=0.711478;MQB=1.19572e-08;MQSB=0.995944;BQB=0.822656;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=282;DP4=66,30,61,43;MinDP=50;AN=18;AC=3	GT:PL:DP:AD	0/1:255,0,255:57:26,31	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:43:18,25	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:100:52,48	G	A	0	3	Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3); Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive	.	.	.	20738328|2247105|9887343|1889810|20302578|8769422|22795705|26604139|20940358|11278896|1689290|20613772|16175511|12366696|26073755|11063735|16628197|9417921|1601988|12373648|23137101|9229116|7693716|16467215|11781569|1731325|11841538|16917092	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_EPITHELIUM_DEVELOPMENT;GO_BUNDLE_OF_HIS_CELL_TO_PURKINJE_MYOCYTE_COMMUNICATION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_CARDIAC_CHAMBER_MORPHOGENESIS;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_PEPTIDE_CROSS_LINKING;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_CARDIAC_MUSCLE_CELL_CONTRACTION;GO_REGULATION_OF_HEART_CONTRACTION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_WOUND_HEALING;GO_CELL_CELL_ADHESION;GO_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_VENTRICULAR_CARDIAC_MUSCLE_CELL_ACTION_POTENTIAL;GO_CELL_JUNCTION_ORGANIZATION;GO_VENTRICULAR_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_KERATINOCYTE_DIFFERENTIATION;GO_CELL_COMMUNICATION_INVOLVED_IN_CARDIAC_CONDUCTION;GO_HEART_MORPHOGENESIS;GO_CARDIAC_VENTRICLE_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_HEART_RATE;GO_REGULATION_OF_CARDIAC_MUSCLE_CELL_ACTION_POTENTIAL;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_REGULATION_OF_ACTION_POTENTIAL;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_EPIDERMIS_DEVELOPMENT;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_HEART_RATE_BY_CARDIAC_CONDUCTION;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_HOMOTYPIC_CELL_CELL_ADHESION;GO_PROTEIN_LOCALIZATION;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_MOVEMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_CARDIAC_MUSCLE_CONTRACTION;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CARDIAC_CONDUCTION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_HETEROTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_BLOOD_CIRCULATION	GO_CELL_CELL_CONTACT_ZONE;GO_BASOLATERAL_PLASMA_MEMBRANE;GO_INTERCALATED_DISC;GO_INTERMEDIATE_FILAMENT;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_CELL_ADHERENS_JUNCTION;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_DESMOSOME;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_PLASMA_MEMBRANE_REGION;GO_CORNIFIED_ENVELOPE;GO_MEMBRANE_REGION	GO_PROTEIN_KINASE_C_BINDING;GO_PROTEIN_BINDING_INVOLVED_IN_CELL_ADHESION;GO_KINASE_BINDING;GO_BINDING_BRIDGING;GO_SCAFFOLD_PROTEIN_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_PROTEIN_BINDING_INVOLVED_IN_CELL_CELL_ADHESION;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_CELL_ADHESION_MOLECULE_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_RNA_BINDING	KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_AJDISS_2PATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	Cytoplasmic and membranous expression in squamous epithelium and intercalated discs of the heart muscle.	http://www.proteinatlas.org/ENSG00000096696-DSP/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	tonsil: 67.4	cell junctions	.	BP6
L	6	16327915	rs797045409	ATGC	A	225	PASS	ATXN1	Ataxin-1	exonic	NM_000332,NM_001128164	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.208_209del,ATXN1:NM_000332:exon8:c.624_626del:p.208_209del	ENSG00000124788.17,ENST00000436367.5,ENST00000244769.8	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs797045409	Uncertain significance;not_specified;RCV000194686.1;MedGen;CN169374	.	.	.	.	.	.	.	.	.	0.38847338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196960,5.061	.	.	INDEL;VDB=0.0166807;SGB=-0.690438;MQSB=0.955563;MQ0F=0;MQ=45;ICB=1;HOB=0.5;DP=249;DP4=4,5,72,45;IDV=27;IMF=0.766667;AN=16;AC=12	GT:PL:DP:AD	1/1:255,51,0,.,.,.,.,.,.,.:17:0,17,.,.	1/2:255,90,57,255,.,255,.,.,.,.:13:0,11,2,.	1/1:255,69,0,.,.,.,.,.,.,.:23:0,23,.,.	0/1:110,0,123,.,.,.,.,.,.,.:15:9,6,.,.	1/3:255,78,51,.,.,.,201,.,.,195:11:0,9,.,2	./.:.:.:.	1/1:187,30,0,.,.,.,.,.,.,.:10:0,10,.,.	1/1:255,57,0,.,.,.,.,.,.,.:19:0,19,.,.	1/3:255,198,159,.,.,.,255,.,.,255:18:0,13,.,5	ATGCTGC	ATGC,A,ATGCTGCTGC	4	4	Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant	.	.	.	7951322|8789437|23760502|17322884|12757707|8275090|10624951|11001934|20869591|12741986|22053053|12757932|8198139|16497448|17190598|18337722|16713569|9353121|8111382|16121196|12062018|12651867|8358429|11673415|15317756|17110330|7647801|9778239|9353120|21475249|15016912|12374759|8088851|12952864|11136710|11973625	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_RNA_PROCESSING;GO_NUCLEAR_TRANSPORT;GO_NUCLEAR_EXPORT	GO_INCLUSION_BODY;GO_NUCLEAR_INCLUSION_BODY;GO_NUCLEOPLASM_PART;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY	GO_PROTEIN_SELF_ASSOCIATION;GO_POLY_PYRIMIDINE_TRACT_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_SINGLE_STRANDED_RNA_BINDING;GO_POLY_PURINE_TRACT_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_RNA_BINDING	.	.	.	.	Strong cytoplasmic staining was found in most tissues. A fraction of lymphoid cells and neurons showed distinct nuclear immunoreactivity. Squamous epithelia and a majority of lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000124788-ATXN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 9.6	nucleus but not nucleoli; cytoplasm; vesicles	.	BP3
H	6	25554333	rs139900430	T	G	222	PASS	CARMIL1	.	splicing	NM_001173977,NM_017640	NM_001173977:exon28:c.2592+9T>G;NM_017640:exon28:c.2592+9T>G	.	.	ENST00000635618.1,ENSG00000079691.17,ENST00000329474.6	.	6p22.2	.	.	.	.	.	rs139900430	.	.	0.0182724	0.0159	0.00319489	.	0.00137786	225712	0.01955815	15390	0.01340847	0.01408451	.	-0.0934	.	.	.	.	.	.	.	.	.	-0.915	-0.418	.	.	.	VDB=0.591155;SGB=-0.692831;RPB=0.988439;MQB=4.02989e-05;MQSB=0.894377;BQB=0.363157;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=61;DP4=10,8,17,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:30:.:.	0/0:50:.:.	0/1:42:255,0,255:18,24	T	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression at variable levels in most tissues.	http://www.proteinatlas.org/ENSG00000079691-LRRC16A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 13.1	cytoplasm	.	.
L	6	26027460	rs28688702	G	A	222	PASS	HIST1H4B	Histone 1, H4b	exonic	NM_003544	.	synonymous SNV	HIST1H4B:NM_003544:exon1:c.C21T:p.G7G	ENSG00000124529.3,ENST00000377364.3	CpG: 39	6p22.2	.	.	.	.	.	rs28688702	.	.	0.0332226	0.0228	0.00479233	0.0002	0.00287223	276092	0.01830045	18852	0.01884959	0.01672535	.	.	.	.	.	.	.	.	.	.	.	-0.338	-2.638	1.067707,11.04	.	.	VDB=0.0235323;SGB=-0.693147;RPB=0.760327;MQB=4.22028e-20;MQSB=0.080477;BQB=0.459932;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=214;DP4=34,51,42,33;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:104:.:.	0/0:101:.:.	0/0:101:.:.	0/1:160:255,0,255:85,75	G	A	0	1	Histone 1, H4b, 602829	.	.	.	9119399|12408966	GO_ATP_DEPENDENT_CHROMATIN_REMODELING;GO_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_TELOMERE_CAPPING;GO_HOMEOSTATIC_PROCESS;GO_TELOMERE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_HISTONE_EXCHANGE;GO_PROTEIN_OLIGOMERIZATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_REGULATION_OF_HEMOPOIESIS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_DNA_REPAIR;GO_PROTEIN_HETEROTETRAMERIZATION;GO_CHROMATIN_MODIFICATION;GO_REGULATION_OF_MEGAKARYOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CHROMATIN_ORGANIZATION;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_GENE_SILENCING;GO_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_NON_RECOMBINATIONAL_REPAIR;GO_DNA_REPLICATION_DEPENDENT_NUCLEOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MEGAKARYOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CHROMATIN_SILENCING;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_CHROMATIN_REMODELING;GO_BETA_CATENIN_TCF_COMPLEX_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CHROMATIN_SILENCING_AT_RDNA;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PROTEIN_TETRAMERIZATION;GO_DNA_PACKAGING;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_CENTROMERE_COMPLEX_ASSEMBLY;GO_GENE_SILENCING_BY_RNA;GO_DNA_REPLICATION_INDEPENDENT_NUCLEOSOME_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_DNA_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS;GO_PROTEIN_HETEROOLIGOMERIZATION	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_CHROMOSOME;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_DNA_PACKAGING_COMPLEX;GO_CHROMOSOME_TELOMERIC_REGION	GO_HISTONE_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_RNA_BINDING	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_RNA_POL_I_PROMOTER_OPENING;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_AMYLOIDS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	General nuclear expression, most abundant in proliferating cells.	http://www.proteinatlas.org/ENSG00000278705-HIST1H4B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 0.4	.	.	BP7
L	6	26033674	rs201179274	G	A	222	PASS	HIST1H2AB	Histone 1, H2ab	exonic	NM_003513	.	synonymous SNV	HIST1H2AB:NM_003513:exon1:c.C123T:p.S41S	ENSG00000278463.1,ENST00000615868.1	CpG: 35	6p22.2	.	.	Score=804;Name=V$OLF1_01	.	.	rs201179274	.	.	0.00498339	0.003	0.000599042	.	0.00007216	277178	0.00106000	18868	0.00116595	0.00176056	.	.	.	.	.	.	.	.	.	.	.	-3.991	-6.191	.	.	.	VDB=0.0710244;SGB=-0.693147;RPB=0.936917;MQB=2.3747e-11;MQSB=0.0801887;BQB=0.937956;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=143;DP4=43,16,41,8;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:83:.:.	0/0:57:.:.	0/0:51:.:.	0/0:51:.:.	0/0:100:.:.	0/1:108:255,0,255:59,49	G	A	0	1	Histone 1, H2ab, 602795	.	.	.	9439656|9119399|12408966|6647026	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_CHROMATIN_ORGANIZATION;GO_GENE_SILENCING;GO_CHROMATIN_SILENCING;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_DNA_PACKAGING_COMPLEX	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_RNA_POL_I_PROMOTER_OPENING;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_AMYLOIDS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000278463-HIST1H2AB/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 0.4	.	.	BP7, PM2
H	6	27424710	rs79416547	A	C	222	PASS	ZNF184	Zinc finger protein-184	splicing	NM_001318891,NM_001318892,NM_001318893,NM_001347832,NM_007149	NM_001318891:exon5:c.203-10T>G;NM_001318892:exon5:c.203-10T>G;NM_001318893:exon5:UTR5;NM_001347832:exon5:UTR5;NM_007149:exon5:c.203-10T>G	.	.	ENST00000211936.10,ENST00000377419.1,ENSG00000096654.15	.	6p22.1	.	.	.	.	.	rs79416547	.	.	0.0365449	0.0357	0.0071885	.	0.00219593	273688	0.03168636	18620	0.02409639	0.04049296	0.0034,0.338	-9.5372	.	.	.	.	.	.	.	.	.	-0.399	-2.577	.	.	.	VDB=0.0420646;SGB=-0.686358;RPB=0.966147;MQB=6.14421e-06;MQSB=0.992077;BQB=0.928596;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=84;DP4=12,29,6,22;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:34:255,0,255:20,14	0/0:11:.:.	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/1:35:176,0,255:21,14	A	C	0	2	Zinc finger protein-184, 602277	.	.	.	9073517	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000096654-ZNF184/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 7.3	nucleus; cytoplasm	.	BS1
L	6	29385568	rs150946557	G	A	222	PASS	OR12D1	.	exonic	NM_001348208	.	unknown	UNKNOWN	ENSG00000251608.1,ENST00000377154.1,ENST00000514827.1,ENSG00000243729.3	.	6p22.1	.	.	.	.	.	rs150946557	.	.	0.0531561	0.0496	0.014377	.	0.00336240	263502	0.02875434	18432	0.02157015	0.01848592	.	.	.	.	.	.	.	.	.	.	.	-0.390	-0.052	.	.	.	VDB=0.998341;SGB=-0.693141;RPB=0.471047;MQB=1.09954e-08;MQSB=0.940395;BQB=0.981245;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=93;DP4=19,18,24,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:77:.:.	0/0:68:.:.	0/0:69:.:.	0/0:68:.:.	0/0:65:.:.	0/0:50:.:.	0/0:59:.:.	0/1:74:255,0,255:37,37	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	6	29407893	rs41271549	A	G	222	PASS	OR10C1	.	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.A101G:p.Y34C	ENST00000377149.5,ENSG00000206474.8,ENST00000622521.1,ENSG00000204694.10,ENST00000444197.3	.	6p22.1	.	.	.	.	.	rs41271549	.	.	0.0282392	0.0317	0.0147764	0.0059	0.00934202	272318	0.02580508	18756	0.02118150	0.01672535	.	.	.	0.0,D	0.971,D	0.999,D	1,D	0.007353,U	3.38,M	3.57,T	5.1592	0.087	2.946	5.276347,25.7	.	.	VDB=0.988339;SGB=-0.693147;RPB=0.203859;MQB=7.0819e-20;MQSB=0.989752;BQB=0.772153;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=192;DP4=54,21,53,20;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:148:255,0,255:75,73	A	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000279941-OR10C1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	.
L	6	29408717	rs149013102	C	A	222	PASS	OR10C1	.	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.C925A:p.P309T	ENST00000377149.5,ENSG00000206474.8,ENST00000622521.1,ENSG00000204694.10,ENST00000444197.3	.	6p22.1	.	.	.	.	.	rs149013102	.	.	0.0282392	0.0317	0.0147764	0.0059	0.00934977	268028	0.02583814	18732	0.02118150	0.01672535	.	.	.	0.293,T	0.001,B	0.001,B	1,N	0.971542,U	0.625,N	8.84,T	4.5464	-0.460	-0.284	.	.	.	VDB=0.0127342;SGB=-0.693147;RPB=0.983433;MQB=6.2351e-17;MQSB=0.904038;BQB=0.933538;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=151;DP4=23,50,19,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/1:121:255,0,255:73,48	C	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000279941-OR10C1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4
L	6	29408720	rs61735219	A	G	222	PASS	OR10C1	.	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.A928G:p.M310V	ENST00000377149.5,ENSG00000206474.8,ENST00000622521.1,ENSG00000204694.10,ENST00000444197.3	.	6p22.1	.	.	.	.	.	rs61735219	.	.	0.0282392	0.0317	0.0147764	0.0059	0.00932023	267590	0.02586299	18714	0.02118150	0.01672535	.	.	.	0.055,T	0.0,B	0.0,B	1,N	0.000771,N	0.255,N	8.96,T	3.0389	-0.231	-0.834	.	.	.	VDB=0.0278565;SGB=-0.693147;RPB=0.999696;MQB=4.35695e-19;MQSB=0.824278;BQB=0.981266;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=147;DP4=22,48,19,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/1:118:255,0,255:70,48	A	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000279941-OR10C1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4
L	6	29429912	rs538200065	GGCTGTCT	G	222	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	frameshift deletion	OR2H1:NM_001318014:exon4:c.367_373del:p.A123fs,OR2H1:NM_001318022:exon4:c.367_373del:p.A123fs,OR2H1:NM_030883:exon4:c.367_373del:p.A123fs	ENST00000377132.1,ENSG00000204688.9,ENST00000484554.1,ENST00000377136.5,ENST00000396792.2,ENST00000377133.5,ENST00000473369.5	.	6p22.1	.	.	Score=704;Name=V$BRACH_01	Score=0.90484;Name=chr6:29555421	.	rs538200065	.	.	0.0215947	0.0238	0.00838658	.	0.00277569	272004	0.02082889	18772	0.01593471	0.01408451	.	.	.	.	.	.	.	.	.	.	.	.	.	3.291243,17.06	.	.	INDEL;VDB=0.103714;SGB=-0.693147;MQSB=0.982158;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=148;DP4=33,60,19,28;IDV=47;IMF=0.317568;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:140:255,0,255:93,47	GGCTGTCT	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	.
L	6	29430024	rs191175468	T	C	222	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.T478C:p.S160P,OR2H1:NM_001318022:exon4:c.T478C:p.S160P,OR2H1:NM_030883:exon4:c.T478C:p.S160P	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs191175468	.	.	0.0215947	0.0238	0.00838658	.	0.00278156	271430	0.02085111	18752	0.01729499	0.01408451	.	.	GPCR, rhodopsin-like, 7TM	0.226,T	0.005,B	0.0,B	1,N	0.334002,N	0.745,N	8.69,T	2.6434	-0.687	-2.485	.	.	.	VDB=0.895172;SGB=-0.693146;RPB=0.944866;MQB=1.72477e-14;MQSB=0.972862;BQB=0.793305;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=118;DP4=36,20,31,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:85:.:.	0/0:100:.:.	0/1:100:255,0,255:56,44	T	C	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM1
L	6	29430028	rs182445185	C	T	222	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.C482T:p.T161I,OR2H1:NM_001318022:exon4:c.C482T:p.T161I,OR2H1:NM_030883:exon4:c.C482T:p.T161I	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs182445185	.	.	0.0215947	0.0238	0.00838658	.	0.00278517	271438	0.02090221	18754	0.01729499	0.01408451	.	.	GPCR, rhodopsin-like, 7TM	0.027,D	0.647,P	0.931,P	0.999997,N	0.000798,D	0.695,N	8.41,T	8.6089	1.882	0.052	2.568121,19.90	2.81	.	VDB=0.448489;SGB=-0.693147;RPB=0.757856;MQB=3.37156e-17;MQSB=0.993277;BQB=0.991849;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=119;DP4=39,20,29,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:96:.:.	0/0:100:.:.	0/1:104:255,0,255:59,45	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM1
L	6	29430097	rs189150803	G	A	222	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.G551A:p.R184Q,OR2H1:NM_001318022:exon4:c.G551A:p.R184Q,OR2H1:NM_030883:exon4:c.G551A:p.R184Q	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs189150803	.	.	0.0215947	0.0238	0.00838658	.	0.00278908	271774	0.02084889	18754	0.01729499	0.01408451	.	.	GPCR, rhodopsin-like, 7TM	0.211,T	0.019,B	0.057,B	1,N	0.893590,N	0.28,N	8.76,T	6.0707	-0.674	-1.387	.	.	.	VDB=0.135522;SGB=-0.693147;RPB=0.551865;MQB=3.87918e-18;MQSB=0.839751;BQB=0.2812;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=145;DP4=47,13,37,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:98:.:.	0/0:100:.:.	0/0:100:.:.	0/1:109:255,0,255:60,49	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM1
L	6	29430202	rs193012486	C	T	214	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.C656T:p.T219I,OR2H1:NM_001318022:exon4:c.C656T:p.T219I,OR2H1:NM_030883:exon4:c.C656T:p.T219I	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs193012486	.	.	0.0215947	0.0238	0.00838658	.	0.00277663	271912	0.02084666	18756	0.01729499	0.01408451	.	.	GPCR, rhodopsin-like, 7TM	1.0,T	0.0,B	0.0,B	0.999998,N	0.000926,N	-3.255,N	9.94,T	7.6996	0.128	3.159	.	.	.	VDB=0.0408306;SGB=-0.693144;RPB=0.629801;MQB=1.51715e-16;MQSB=0.574882;BQB=0.944408;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=127;DP4=31,35,14,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:105:247,0,255:66,39	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM1
L	6	29430257	rs371566660	G	A	121	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	synonymous SNV	OR2H1:NM_001318014:exon4:c.G711A:p.G237G,OR2H1:NM_001318022:exon4:c.G711A:p.G237G,OR2H1:NM_030883:exon4:c.G711A:p.G237G	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs371566660	.	.	0.0215947	0.0238	0.00838658	.	0.00277725	271852	0.02086001	18744	0.01729499	0.01408451	.	.	.	.	.	.	.	.	.	.	.	-0.631	-0.718	.	.	.	VDB=0.44347;SGB=-0.693097;RPB=0.520342;MQB=2.19433e-13;MQSB=0.719633;BQB=0.769817;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=104;DP4=28,29,14,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:87:155,0,255:57,30	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP7
L	6	29430260	rs374894910	C	T	123	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	synonymous SNV	OR2H1:NM_001318014:exon4:c.C714T:p.T238T,OR2H1:NM_001318022:exon4:c.C714T:p.T238T,OR2H1:NM_030883:exon4:c.C714T:p.T238T	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs374894910	.	.	0.0215947	0.0238	0.00838658	.	0.00277692	271884	0.02085556	18748	0.01729499	0.01408451	.	.	.	.	.	.	.	.	.	.	.	0.319	-1.276	.	.	.	VDB=0.44347;SGB=-0.693097;RPB=0.646935;MQB=2.63291e-13;MQSB=0.753575;BQB=0.871016;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=103;DP4=27,29,14,16;MinDP=47;AN=18;AC=1	GT:DP:PL:AD	0/0:47:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:86:157,0,255:56,30	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP7
L	6	29430334	rs140963208	C	T	190	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.C788T:p.P263L,OR2H1:NM_001318022:exon4:c.C788T:p.P263L,OR2H1:NM_030883:exon4:c.C788T:p.P263L	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	Score=803;Name=V$OLF1_01	Score=0.90484;Name=chr6:29555421	.	rs140963208	.	.	0.0215947	0.0238	0.00838658	0.0002	0.00281211	272038	0.02090221	18754	0.01710731	0.01408451	.	.	GPCR, rhodopsin-like, 7TM	0.076,T	0.027,B	0.026,B	1,N	0.001136,N	-0.155,N	8.77,T	1.8467	0.304	-0.762	2.524001,19.62	.	.	VDB=0.708801;SGB=-0.692976;RPB=0.833173;MQB=8.26318e-12;MQSB=0.651685;BQB=0.592668;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=92;DP4=27,25,18,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:78:223,0,255:52,26	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM1
L	6	29430441	rs192145372	C	T	222	PASS	OR2H1	.	exonic	NM_001318014,NM_001318022,NM_030883	.	missense SNV	OR2H1:NM_001318014:exon4:c.C895T:p.L299F,OR2H1:NM_001318022:exon4:c.C895T:p.L299F,OR2H1:NM_030883:exon4:c.C895T:p.L299F	ENST00000484554.1,ENST00000377136.5,ENST00000377132.1,ENST00000377133.5,ENST00000396792.2,ENSG00000204688.9,ENST00000473369.5	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs192145372	.	.	0.0215947	0.0238	0.00838658	.	0.00277639	271576	0.02081554	18736	0.01711396	0.01408451	.	.	.	0.241,T	0.005,B	0.004,B	1,N	0.970275,N	0.82,L	1.08,T	5.7956	-0.846	-1.294	.	.	.	VDB=0.0184696;SGB=-0.692831;RPB=0.776137;MQB=1.7484e-08;MQSB=0.874672;BQB=0.980457;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=75;DP4=14,18,12,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:31:.:.	0/1:56:255,0,255:32,24	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000204688-OR2H1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4
L	6	29455505	rs145164303	T	G	222	PASS	MAS1L	MAS1 oncogene-like	exonic	NM_052967	.	missense SNV	MAS1L:NM_052967:exon1:c.A175C:p.T59P	ENSG00000204687.4,ENST00000377127.4	.	6p22.1	.	.	.	.	.	rs145164303	.	.	0.0548173	0.0506	0.0291534	0.0094	0.00940832	276670	0.02921527	18860	0.02176448	0.01760563	.	.	.	0.225,T	0.167,B	0.487,P	1,N	.	0,N	3.73,T	1.4266	-0.845	0.115	.	.	.	VDB=0.802228;SGB=-0.693146;RPB=0.525577;MQB=3.54194e-09;MQSB=0.930858;BQB=0.999453;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=107;DP4=20,19,23,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:81:255,0,255:39,42	T	G	0	1	MAS1 oncogene-like, 607235	.	.	.	11551509	GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	Normal tissues showed weak to moderate cytoplasmic, nuclear and membranous staining. Pancreas were generally negative.	http://www.proteinatlas.org/ENSG00000204687-MAS1L/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 0.5	plasma membrane; cytoplasm; nucleus but not nucleoli	.	BS2
M	6	30671206	rs145685809	T	C	222	PASS	MDC1	Mediator of DNA damage checkpoint protein 1	exonic	NM_014641	.	missense SNV	MDC1:NM_014641:exon11:c.A5671G:p.T1891A	ENSG00000137337.14,ENST00000376406.7,ENST00000489540.1,ENST00000442150.1,ENSG00000224328.1	.	6p21.33	.	.	.	.	.	rs145685809	.	.	0.0232558	0.0268	0.00678914	0.0001	0.00230023	273886	0.02860327	18844	0.02351341	0.02228164	.	-0.1474	BRCT domain	0.384,T	0.003,B	0.002,B	1,N	0.470818,N	0.185,N	4.28,T	8.9596	-0.476	-0.369	.	.	.	VDB=0.311272;SGB=-0.693147;RPB=0.81225;MQB=4.0481e-21;MQSB=0.872672;BQB=0.818002;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=215;DP4=46,45,45,33;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:105:.:.	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/1:169:255,0,255:91,78	T	C	0	1	Mediator of DNA damage checkpoint protein 1, 607593	.	.	.	17158742|16427010|12607003|18006705|16427009|12607004|8724849|21293379|12475977|12607005	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_INTRA_S_DNA_DAMAGE_CHECKPOINT;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_DNA_REPAIR;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_PROTEIN_SUMOYLATION;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_CYCLE;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_NON_RECOMBINATIONAL_REPAIR;GO_CELL_CYCLE;GO_DNA_INTEGRITY_CHECKPOINT;GO_CELL_CYCLE_CHECKPOINT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME;GO_CELL_JUNCTION;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION	GO_PROTEIN_C_TERMINUS_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	PID_ATM_PATHWAY	.	REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR	General nuclear expression.	http://www.proteinatlas.org/ENSG00000137337-MDC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 42.4	nucleus but not nucleoli	.	BP4, PM1
L	6	30993494	rs138701007	G	C	222	PASS	MUC22	Mucin 22	exonic	NM_001198815,NM_001318484,NM_001322469	.	missense SNV	MUC22:NM_001198815:exon3:c.G286C:p.A96P,MUC22:NM_001318484:exon3:c.G295C:p.A99P,MUC22:NM_001322469:exon3:c.G295C:p.A99P	ENST00000561890.1,ENSG00000261272.1	.	6p21.33	.	.	.	.	.	rs138701007	.	.	0.0398671	0.0417	0.0139776	.	0.00497451	154186	0.04584277	11474	0.03382582	0.02728873	.	-0.1944	.	.	.	.	.	.	.	.	.	-0.917	-0.474	.	.	.	VDB=0.0370937;SGB=-0.693147;RPB=0.946338;MQB=1.5134e-43;MQSB=0.422206;BQB=0.62508;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=447;DP4=102,81,86,72;MinDP=245;AN=18;AC=1	GT:DP:PL:AD	0/0:247:.:.	0/0:358:.:.	0/0:352:.:.	0/0:396:.:.	0/0:269:.:.	0/0:245:.:.	0/0:276:.:.	0/0:281:.:.	0/1:341:255,0,255:183,158	G	C	0	1	Mucin 22, 613917	.	.	.	20981447	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000261272-MUC22/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 0.1	.	.	BS1
H	6	30996497	.	ACCACCTCTACTGAAGGCTCTGAGACCACTACAG	A	195	PASS	MUC22	Mucin 22	exonic	NM_001198815,NM_001318484,NM_001322469	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.3290_3322del:p.1097_1108del,MUC22:NM_001318484:exon3:c.3299_3331del:p.1100_1111del,MUC22:NM_001322469:exon3:c.3299_3331del:p.1100_1111del	ENSG00000261272.1,ENST00000561890.1	.	6p21.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.41213;SGB=-0.693147;MQSB=0.999957;MQ0F=0;MQ=49;DP=744;DP4=23,9,341,139;IDV=2;IMF=0.00268817;MinDP=185;AN=18;AC=1	GT:DP:PL:AD	0/0:185:.:.	0/0:569:.:.	0/0:603:.:.	0/0:334:.:.	0/0:249:.:.	0/0:483:.:.	0/0:247:.:.	0/0:266:.:.	1/2:512:255,75,64,255,.,255:32,228,252	ACCACCTCTACTGAAGGCTCTGAGACCACTACAG	A,ACTCTACTGAAGGCTCTGAGACCACTACAG	0	1	Mucin 22, 613917	.	.	.	20981447	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000261272-MUC22/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 0.1	.	.	PM2, PM4
H	6	30996497	.	ACCAC	A	195	PASS	MUC22	Mucin 22	exonic	NM_001198815,NM_001318484,NM_001322469	.	frameshift deletion	MUC22:NM_001198815:exon3:c.3290_3293del:p.T1097fs,MUC22:NM_001318484:exon3:c.3299_3302del:p.T1100fs,MUC22:NM_001322469:exon3:c.3299_3302del:p.T1100fs	ENSG00000261272.1,ENST00000561890.1	.	6p21.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.41213;SGB=-0.693147;MQSB=0.999957;MQ0F=0;MQ=49;DP=744;DP4=23,9,341,139;IDV=2;IMF=0.00268817;MinDP=185;AN=18;AC=1	GT:DP:PL:AD	0/0:185:.:.	0/0:569:.:.	0/0:603:.:.	0/0:334:.:.	0/0:249:.:.	0/0:483:.:.	0/0:247:.:.	0/0:266:.:.	1/2:512:255,75,64,255,.,255:32,228,252	ACCACCTCTACTGAAGGCTCTGAGACCACTACAG	A,ACTCTACTGAAGGCTCTGAGACCACTACAG	0	1	Mucin 22, 613917	.	.	.	20981447	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000261272-MUC22/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 0.1	.	.	PM2
L	6	31604513	rs114580964	C	A	222	PASS	PRRC2A	Proline-rich coiled-coil protein 2A	exonic	NM_004638,NM_080686	.	missense SNV	PRRC2A:NM_004638:exon28:c.C5938A:p.L1980I,PRRC2A:NM_080686:exon28:c.C5938A:p.L1980I	ENSG00000204469.12,ENST00000492691.5,ENST00000462617.1,ENST00000376033.2,ENST00000376007.8,ENST00000487839.1	.	6p21.33	.	.	Score=927;Name=V$HSF2_01	.	.	rs114580964	.	.	0.0415282	0.0407	0.0109824	.	0.00310466	267662	0.03804173	18690	0.03381267	0.02376761	.	0.2712	.	0.01,D	0.967,D	0.993,D	0.995841,D	0.000198,D	1.39,L	4.58,T	17.7104	2.703	2.089	4.808801,24.8	5.21	.	VDB=0.210777;SGB=-0.693147;RPB=0.899126;MQB=1.96903e-24;MQSB=0.404663;BQB=0.827193;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=225;DP4=70,18,51,24;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/1:163:255,0,255:88,75	C	A	0	1	Proline-rich coiled-coil protein 2A, 142580	.	.	.	2156268	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000204469-PRRC2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 108.3	cytoplasm; vesicles	.	BS1, PP3
H	6	31779714	.	G	T	222	PASS	HSPA1L	Heat-shock 70kD protein-like-1	exonic	NM_005527	.	missense SNV	HSPA1L:NM_005527:exon2:c.C36A:p.D12E	ENST00000375654.4,ENSG00000204390.9	.	6p21.33	.	.	Score=922;Name=V$CDPCR3HD_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Heat shock protein 70, conserved site	0.0,D	0.996,D	0.995,D	1,D	.	5.725,H	1.94,T	15.0994	2.409	1.783	3.976174,23.6	4.66	0.0384294370778	VDB=0.486056;SGB=-0.693143;RPB=0.999942;MQB=3.54528e-10;MQSB=0.242601;BQB=0.424774;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=103;DP4=25,11,20,18;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:36,38	G	T	0	1	Heat-shock 70kD protein-like-1, 140559	.	.	.	24270810|11943262|11888582|15024131|1700760|1356099|2538825|17591867	GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_SINGLE_FERTILIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_SPERM_EGG_RECOGNITION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_PROTEIN_FOLDING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_RECOGNITION;GO_FERTILIZATION;GO_CELL_CELL_RECOGNITION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_REFOLDING;GO_REGULATION_OF_TRANSPORT;GO_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_REGULATION_OF_PROTEIN_TARGETING	GO_BLOOD_MICROPARTICLE;GO_MITOCHONDRIAL_MATRIX;GO_COP9_SIGNALOSOME;GO_EXTRACELLULAR_SPACE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_CELL_BODY	GO_HEAT_SHOCK_PROTEIN_BINDING;GO_UNFOLDED_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_SPLICEOSOME;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION	.	.	.	Selective cytoplasmic and nuclear expression in spermatids in testis	http://www.proteinatlas.org/ENSG00000204390-HSPA1L/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 3.7	.	.	PM1, PM2, PP3
H	6	31896595	rs778166926	T	C	222	PASS	C2	Complement component-2	exonic	NM_000063,NM_001282458,NM_001282459	.	missense SNV	C2:NM_000063:exon3:c.T343C:p.F115L,C2:NM_001282458:exon3:c.T256C:p.F86L,C2:NM_001282459:exon3:c.T343C:p.F115L	ENST00000477310.1,ENST00000497706.5,ENST00000413154.5,ENST00000383177.7,ENST00000456570.5,ENSG00000244255.5,ENST00000484636.1,ENST00000442278.6,ENST00000452323.6,ENST00000452202.5,ENST00000469372.5,ENSG00000166278.14,ENST00000411571.6,ENST00000418949.6,ENST00000447952.6,ENST00000482060.5,ENST00000299367.9	.	6p21.33	.	.	.	.	.	rs778166926	.	.	.	.	.	.	0.00000812	246268	0.00011596	17248	0.00019433	.	.	0.2161	Sushi/SCR/CCP domain	0.0,D	0.998,D	1.0,D	1,D	0.001480,N	2.835,M	-0.32,T	13.0974	2.091	4.571	5.433897,26.1	5.49	0.630057559401	VDB=0.00234005;SGB=-0.693147;RPB=0.676741;MQB=1.11955e-14;MQSB=0.199466;BQB=0.55673;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=162;DP4=28,41,15,41;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:50:.:.	0/0:101:.:.	0/1:125:255,0,255:69,56	T	C	0	1	C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)	.	.	.	978135|2949737|6199794|133535|40340|3118362|4427089|16518403|1577763|1542325|16936732|993342|312013|6918356|7287006|8621452|1251436	GO_REGULATION_OF_PROTEIN_ACTIVATION_CASCADE;GO_PROTEIN_ACTIVATION_CASCADE;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_B_CELL_MEDIATED_IMMUNITY;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_COMPLEMENT_ACTIVATION;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_HUMORAL_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_POSITIVE_REGULATION_OF_PHAGOCYTOSIS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEIN_MATURATION;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_ENDOCYTOSIS;GO_IMMUNE_RESPONSE;GO_HUMORAL_IMMUNE_RESPONSE_MEDIATED_BY_CIRCULATING_IMMUNOGLOBULIN;GO_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_REGULATION_OF_PHAGOCYTOSIS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_RESPONSE_TO_NUTRIENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEOLYSIS;GO_PROTEOLYSIS;GO_IMMUNE_EFFECTOR_PROCESS	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	BIOCARTA_CLASSIC_PATHWAY;BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_INITIAL_TRIGGERING_OF_COMPLEMENT	Positivity in plasma.	http://www.proteinatlas.org/ENSG00000166278-C2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 76.6	.	.	PM1, PM2, PP3
L	6	32049215	rs117635810	C	T	222	PASS	TNXB	Tenascin XB	exonic	NM_019105	.	synonymous SNV	TNXB:NM_019105:exon10:c.G3972A:p.K1324K	ENST00000613214.4,ENSG00000168477.17,ENST00000375244.7	.	6p21.33	.	.	Score=962;Name=V$CETS1P54_01	.	.	rs117635810	.	.	0.00664452	0.006	0.00119808	.	0.00033032	214942	0.00486301	14600	0.00427517	0.00352113	.	0.4476	.	.	.	.	.	.	.	.	.	0.307	-0.452	1.903698,15.61	.	.	VDB=0.589259;SGB=-0.693147;RPB=0.944601;MQB=8.3203e-21;MQSB=0.992428;BQB=0.695438;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=161;DP4=48,12,55,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:101:.:.	0/1:129:255,0,255:60,69	C	T	0	1	Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant	.	.	.	7686164|9288108|9288085|23620400|1373808|9795100|12354783|11342567|11925569|1373119|7512972|2475872|23768946|1383086|11642233|8923003|8530023|2315305|12865992|15733269	GO_REGULATION_OF_MAPK_CASCADE;GO_COLLAGEN_FIBRIL_ORGANIZATION;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELL_MATRIX_ADHESION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_EXTRACELLULAR_MATRIX_ASSEMBLY;GO_FIBRIL_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_CELL_SUBSTRATE_ADHESION;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_CELL_CELL_ADHESION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_JNK_CASCADE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BIOLOGICAL_ADHESION;GO_EXTRACELLULAR_FIBRIL_ORGANIZATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_COMPLEX_OF_COLLAGEN_TRIMERS;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_BANDED_COLLAGEN_FIBRIL;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_EXTRACELLULAR_SPACE;GO_COLLAGEN_TRIMER	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_COLLAGEN_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_INTEGRIN_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	.	Weak to moderate cytoplasmic and nuclear staining was observed in most normal tissues. Skeletal muscle, squamous epithelia, the stomach and neurons were strongly stained.	http://www.proteinatlas.org/ENSG00000168477-TNXB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 62.2	.	.	BP7
L-	6	32135136	rs2071289	C	A	222	PASS	EGFL8	Epidermal growth factor-like 8	exonic	NM_030652	.	missense SNV	EGFL8:NM_030652:exon7:c.C611A:p.A204E	ENSG00000258388.7,ENST00000333845.10,ENSG00000241404.6,ENST00000432129.1,ENST00000422437.5,ENST00000466239.5,ENST00000428388.6,ENST00000395512.5	CpG: 49	6p21.32	.	.	.	.	.	rs2071289	.	.	0.0365449	0.0327	0.0153754	0.0031	0.00682709	270540	0.03800171	18736	0.02526234	0.02557319	.	-0.3434	.	0.29,T	0.319,B	0.856,P	0.570638,D	.	1.79,L	-2.5,D	7.7768	0.272	0.678	3.363532,22.9	2.7	.	VDB=0.729222;SGB=-0.693147;RPB=0.987131;MQB=1.85582e-18;MQSB=0.935201;BQB=0.731515;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=170;DP4=52,17,47,14;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:130:255,0,255:69,61	C	A	0	1	.	.	.	.	.	GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EMBRYO_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT	.	GO_CALCIUM_ION_BINDING	.	.	.	.	Expression in connective tissue.	http://www.proteinatlas.org/ENSG00000241404-EGFL8/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 6.0	.	.	BS1
L-	6	32184835	rs151131761	C	T	222	PASS	NOTCH4	Notch, Drosophila, homolog of, 4	exonic	NM_004557	.	missense SNV	NOTCH4:NM_004557:exon11:c.G1748A:p.G583E	ENST00000473562.1,ENST00000375023.3,ENSG00000204301.6	.	6p21.32	.	.	.	.	.	rs151131761	.	.	0.0315615	0.0218	0.0107827	0.0018	0.00529509	272328	0.02047127	18758	0.01632336	0.01760563	.	4.3984	EGF-like calcium-binding domain;EGF-like, conserved site;Epidermal growth factor-like domain;Insulin-like growth factor binding protein, N-terminal	0.004,D	1.0,D	1.0,D	0.999995,D	0.000881,D	4.045,H	-3.77,D	13.743	2.144	2.932	5.650398,26.7	3.89	.	VDB=0.173452;SGB=-0.693147;RPB=0.520604;MQB=3.25472e-10;MQSB=0.913703;BQB=0.587768;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=119;DP4=24,23,21,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:51:.:.	0/0:93:.:.	0/0:100:.:.	0/0:101:.:.	0/1:95:255,0,255:47,48	C	T	0	1	Notch, Drosophila, homolog of, 4, 164951	.	.	.	15123653|10837027|9693032|18667694|7835890|9168133|8681805	GO_ENDOTHELIAL_CELL_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_IMMUNE_SYSTEM_PROCESS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_NOTCH_RECEPTOR_PROCESSING;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EMBRYO_DEVELOPMENT;GO_PATTERNING_OF_BLOOD_VESSELS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ENDOTHELIUM_DEVELOPMENT;GO_NOTCH_SIGNALING_PATHWAY;GO_TUBE_DEVELOPMENT;GO_MAMMARY_GLAND_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_VASCULATURE_DEVELOPMENT;GO_CELL_FATE_DETERMINATION;GO_CELL_FATE_COMMITMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_GLAND_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_CELL_SURFACE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_RECEPTOR_ACTIVITY	KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	.	http://www.proteinatlas.org/ENSG00000204301-NOTCH4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 15.4	.	.	PP3
H-	6	32188853	rs192478549	C	T	222	PASS	NOTCH4	Notch, Drosophila, homolog of, 4	exonic	NM_004557	.	missense SNV	NOTCH4:NM_004557:exon4:c.G701A:p.R234Q	ENST00000473562.1,ENST00000375023.3,ENSG00000204301.6	.	6p21.32	.	.	.	.	.	rs192478549	.	.	0.0249169	0.0169	0.00339457	.	0.00124677	271902	0.01728738	18742	0.01399145	0.01320423	.	-0.3986	Epidermal growth factor-like domain	0.217,T	0.013,B	0.027,B	1,N	0.776695,N	0.58,N	2.78,T	6.5036	-0.530	-2.162	1.086760,11.14	.	.	VDB=0.715227;SGB=-0.693147;RPB=0.932035;MQB=2.40677e-23;MQSB=0.952881;BQB=0.687913;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=192;DP4=55,27,45,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:127:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:152:255,0,255:82,70	C	T	0	1	Notch, Drosophila, homolog of, 4, 164951	.	.	.	15123653|10837027|9693032|18667694|7835890|9168133|8681805	GO_ENDOTHELIAL_CELL_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_IMMUNE_SYSTEM_PROCESS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_NOTCH_RECEPTOR_PROCESSING;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EMBRYO_DEVELOPMENT;GO_PATTERNING_OF_BLOOD_VESSELS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ENDOTHELIUM_DEVELOPMENT;GO_NOTCH_SIGNALING_PATHWAY;GO_TUBE_DEVELOPMENT;GO_MAMMARY_GLAND_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_VASCULATURE_DEVELOPMENT;GO_CELL_FATE_DETERMINATION;GO_CELL_FATE_COMMITMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_GLAND_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_CELL_SURFACE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_RECEPTOR_ACTIVITY	KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	.	http://www.proteinatlas.org/ENSG00000204301-NOTCH4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 15.4	.	.	.
L	6	32905064	rs147622332	A	G	222	PASS	HLA-DMB	Major histocompatibility complex, class II, DM beta	exonic	NM_002118	.	synonymous SNV	HLA-DMB:NM_002118:exon3:c.T507C:p.N169N	ENST00000414017.5,ENST00000438510.5,ENSG00000242574.8,ENST00000418107.2,ENST00000498020.1	.	6p21.32	.	.	.	.	.	rs147622332	.	.	0.00166113	0.0069	0.00159744	0.0002	0.00019861	276926	0.00222623	18866	0.00155461	0.00088028	.	0.0342	.	.	.	.	1,D	.	.	.	6.0293	0.306	-0.040	.	2.01	.	VDB=0.225454;SGB=-0.693146;RPB=0.806995;MQB=1.71834e-16;MQSB=0.989492;BQB=0.996436;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=126;DP4=40,15,32,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:56:.:.	0/0:100:.:.	0/0:100:.:.	0/0:86:.:.	0/0:50:.:.	0/0:77:.:.	0/0:68:.:.	0/0:50:.:.	0/1:99:255,0,255:55,44	A	G	0	1	Major histocompatibility complex, class II, DM beta, 142856	.	.	.	1922366|8139690|1922365|8139689	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in lymphoid tissues and immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000242574-HLA-DMB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 194.7	.	.	.
M	6	32905101	rs146577083	A	G	222	PASS	HLA-DMB	Major histocompatibility complex, class II, DM beta	exonic	NM_002118	.	missense SNV	HLA-DMB:NM_002118:exon3:c.T470C:p.M157T	ENST00000414017.5,ENST00000438510.5,ENSG00000242574.8,ENST00000418107.2,ENST00000498020.1	.	6p21.32	.	.	.	.	.	rs146577083	.	.	0.00166113	0.0069	0.00159744	0.0002	0.00019848	277100	0.00222576	18870	0.00155461	0.00176056	.	-0.0737	Immunoglobulin C1-set;Immunoglobulin-like domain;Immunoglobulin-like fold	0.177,T	0.0,B	0.0,B	1,N	.	-2.005,N	4.41,T	12.9807	-1.273	-2.392	.	.	0.00389763964127	VDB=0.288601;SGB=-0.693147;RPB=0.910778;MQB=3.84886e-16;MQSB=0.95824;BQB=0.948001;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=135;DP4=37,17,36,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:99:.:.	0/0:50:.:.	0/0:50:.:.	0/1:101:255,0,255:54,47	A	G	0	1	Major histocompatibility complex, class II, DM beta, 142856	.	.	.	1922366|8139690|1922365|8139689	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in lymphoid tissues and immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000242574-HLA-DMB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 194.7	.	.	BP4, PM1
L	6	32906586	rs17617321	C	T	222	PASS	HLA-DMB	Major histocompatibility complex, class II, DM beta	exonic	NM_002118	.	missense SNV	HLA-DMB:NM_002118:exon2:c.G212A:p.S71N	ENST00000429234.1,ENSG00000242574.8,ENSG00000248993.1,ENST00000418107.2,ENST00000498020.1	.	6p21.32	.	.	.	.	.	rs17617321	.	.	0.0182724	0.0308	0.0209665	0.0233	0.02665660	270252	0.02124906	18542	0.01768364	0.02376761	.	0.9473	MHC class II, alpha/beta chain, N-terminal;MHC class II, beta chain, N-terminal;MHC classes I/II-like antigen recognition protein	0.473,T	0.026,B	0.009,B	1,N	0.000000,N	-0.69,N	2.25,T	6.1226	-7.336	-8.282	.	.	.	VDB=0.241634;SGB=-0.693127;RPB=0.750989;MQB=8.43999e-11;MQSB=0.385934;BQB=0.47206;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=88;DP4=19,17,11,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:36,33	C	T	0	1	Major histocompatibility complex, class II, DM beta, 142856	.	.	.	1922366|8139690|1922365|8139689	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in lymphoid tissues and immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000242574-HLA-DMB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 194.7	.	.	BP4, PM1
L	6	32906652	rs17617333	T	A	222	PASS	HLA-DMB	Major histocompatibility complex, class II, DM beta	exonic	NM_002118	.	missense SNV	HLA-DMB:NM_002118:exon2:c.A146T:p.D49V	ENST00000429234.1,ENSG00000242574.8,ENSG00000248993.1,ENST00000418107.2,ENST00000498020.1	.	6p21.32	.	.	.	.	.	rs17617333	.	.	0.0182724	0.0308	0.0209665	0.0233	0.02665550	270976	0.02119554	18636	0.01768364	0.02376761	.	-2.0469	MHC class II, alpha/beta chain, N-terminal;MHC class II, beta chain, N-terminal;MHC classes I/II-like antigen recognition protein	0.385,T	0.983,D	0.999,D	0.999985,D	0.032616,N	2.515,M	1.99,T	8.9213	2.125	2.182	3.231885,22.8	3.85	.	VDB=0.553667;SGB=-0.692717;RPB=0.766124;MQB=1.1688e-08;MQSB=0.709396;BQB=0.593235;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=59;DP4=11,16,7,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:50:255,0,255:27,23	T	A	0	1	Major histocompatibility complex, class II, DM beta, 142856	.	.	.	1922366|8139690|1922365|8139689	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in lymphoid tissues and immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000242574-HLA-DMB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 194.7	.	.	PM1, PP3
L	6	32906716	rs17583782	T	C	201	PASS	HLA-DMB	Major histocompatibility complex, class II, DM beta	exonic	NM_002118	.	missense SNV	HLA-DMB:NM_002118:exon2:c.A82G:p.T28A	ENST00000429234.1,ENSG00000242574.8,ENSG00000248993.1,ENST00000418107.2,ENST00000498020.1	.	6p21.32	.	.	.	.	.	rs17583782	.	.	0.0182724	0.0308	0.0209665	0.0234	0.02620474	252130	0.02018653	16298	0.01769051	0.02376761	.	0.4195	MHC class II, alpha/beta chain, N-terminal;MHC class II, beta chain, N-terminal;MHC classes I/II-like antigen recognition protein	0.077,T	0.197,B	0.245,B	1,N	0.743380,N	2.075,M	8.04,T	0.3655	-0.166	-0.397	.	.	.	VDB=0.0807595;SGB=-0.680642;RPB=0.379148;MQB=4.86415e-05;MQSB=0.986538;BQB=0.997578;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=37;DP4=6,10,5,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:28:234,0,255:16,12	T	C	0	1	Major histocompatibility complex, class II, DM beta, 142856	.	.	.	1922366|8139690|1922365|8139689	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in lymphoid tissues and immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000242574-HLA-DMB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 194.7	.	.	BP4, PM1
L	6	32917411	rs41555121	C	T	222	PASS	HLA-DMA	Major histocompatibility complex, class II, DM alpha	exonic	NM_006120	.	missense SNV	HLA-DMA:NM_006120:exon3:c.G629A:p.R210H	ENST00000456800.1,ENST00000464392.1,ENST00000477541.1,ENST00000429234.1,ENST00000395305.7,ENSG00000248993.1,ENST00000480785.5,ENSG00000204257.14,ENST00000395303.7,ENST00000374843.8	.	6p21.32	.	.	Score=849;Name=V$CDPCR1_01	.	.	rs41555121	.	.	0.0232558	0.0327	0.0213658	0.0236	0.02692981	271892	0.02446695	18760	0.02020987	0.02640845	.	0.2037	Immunoglobulin C1-set;Immunoglobulin-like domain;Immunoglobulin-like fold	0.026,D	0.343,B	0.97,D	0.999966,N	0.624170,N	0.895,L	3.06,T	4.1687	0.857	0.059	5.229498,25.6	2.2	.	VDB=0.0147095;SGB=-0.693145;RPB=0.23376;MQB=4.89121e-13;MQSB=0.650779;BQB=0.731234;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=104;DP4=30,6,35,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:77:255,0,255:36,41	C	T	0	1	Major histocompatibility complex, class II, DM alpha, 142855	.	.	.	1922366|8139690|1922365|8139689|8034636|8849454	GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_IMMUNE_RESPONSE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	High cytoplasmic expression in several tissues, strongest in immune cells.	http://www.proteinatlas.org/ENSG00000204257-HLA-DMA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 252.5	.	.	PM1
L	6	32917422	rs150131046	G	A	222	PASS	HLA-DMA	Major histocompatibility complex, class II, DM alpha	exonic	NM_006120	.	synonymous SNV	HLA-DMA:NM_006120:exon3:c.C618T:p.H206H	ENST00000456800.1,ENST00000464392.1,ENST00000477541.1,ENST00000429234.1,ENST00000395305.7,ENSG00000248993.1,ENST00000480785.5,ENSG00000204257.14,ENST00000395303.7,ENST00000374843.8	.	6p21.32	.	.	Score=909;Name=V$BACH2_01	.	.	rs150131046	.	.	0.00166113	0.006	0.00319489	0.0027	0.00241255	271912	0.00165280	18756	0.00174893	0.00352113	.	0.8719	.	.	.	.	.	.	.	.	.	-0.014	-0.855	1.051118,10.95	.	.	VDB=0.0614646;SGB=-0.693146;RPB=0.167156;MQB=1.20888e-13;MQSB=0.632476;BQB=0.995516;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=112;DP4=31,6,38,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:81:255,0,255:37,44	G	A	0	1	Major histocompatibility complex, class II, DM alpha, 142855	.	.	.	1922366|8139690|1922365|8139689|8034636|8849454	GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_IMMUNE_RESPONSE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	High cytoplasmic expression in several tissues, strongest in immune cells.	http://www.proteinatlas.org/ENSG00000204257-HLA-DMA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 252.5	.	.	BP7
L	6	32917498	rs6926628	C	G	222	PASS	HLA-DMA	Major histocompatibility complex, class II, DM alpha	exonic	NM_006120	.	missense SNV	HLA-DMA:NM_006120:exon3:c.G542C:p.G181A	ENST00000456800.1,ENST00000464392.1,ENST00000477541.1,ENST00000429234.1,ENST00000422832.1,ENST00000395305.7,ENSG00000248993.1,ENSG00000204257.14,ENST00000395303.7,ENST00000374843.8	.	6p21.32	.	.	.	.	.	rs6926628	.	.	0.0232558	0.0327	0.0211661	0.0236	0.02687614	271728	0.02438114	18744	0.02020987	0.02640845	.	-1.1345	Immunoglobulin C1-set;Immunoglobulin-like domain;Immunoglobulin-like fold	0.01,D	0.619,P	0.984,D	0.989683,D	0.005725,N	2.62,M	4.11,T	9.6112	1.376	0.360	4.004519,23.6	4.27	.	VDB=0.00024895;SGB=-0.693144;RPB=0.0364141;MQB=2.47979e-13;MQSB=0.744552;BQB=0.541239;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=115;DP4=22,18,26,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/0:50:.:.	0/1:79:255,0,255:40,39	C	G	0	1	Major histocompatibility complex, class II, DM alpha, 142855	.	.	.	1922366|8139690|1922365|8139689|8034636|8849454	GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_IMMUNE_RESPONSE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_LATE_ENDOSOME_MEMBRANE;GO_MHC_PROTEIN_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_MHC_CLASS_II_PROTEIN_COMPLEX;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_ANTIGEN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	High cytoplasmic expression in several tissues, strongest in immune cells.	http://www.proteinatlas.org/ENSG00000204257-HLA-DMA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 252.5	.	.	PM1, PP3
L	6	32945625	rs3918143	C	T	222	PASS	BRD2	Bromodomain-containing protein 2	exonic	NM_001113182,NM_001199455,NM_001199456,NM_001291986,NM_005104	.	missense SNV	BRD2:NM_001199455:exon8:c.C1421T:p.A474V,BRD2:NM_001199456:exon8:c.C1280T:p.A427V,BRD2:NM_001113182:exon9:c.C1421T:p.A474V,BRD2:NM_005104:exon9:c.C1421T:p.A474V,BRD2:NM_001291986:exon10:c.C1061T:p.A354V	ENST00000374831.8,ENSG00000204256.12,ENST00000449085.3,ENST00000374825.8,ENST00000449025.5,ENST00000395287.5,ENST00000495733.5,ENST00000463639.1,ENST00000607833.5,ENST00000464592.5,ENST00000481259.1,ENST00000482914.5	.	6p21.32	.	.	Score=886;Name=V$CP2_01	.	.	rs3918143	.	.	0.0232558	0.0327	0.0229633	0.0251	0.02835448	271950	0.02437073	18752	0.02079285	0.02552817	.	0.0347	Bromodomain;Bromodomain, conserved site	0.195,T	0.015,B	0.024,B	0.974963,N	0.231936,N	0,N	3.07,T	5.9991	0.390	0.617	2.030613,16.41	2.73	.	VDB=0.462085;SGB=-0.693141;RPB=0.658854;MQB=1.07319e-05;MQSB=0.454399;BQB=0.927063;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=95;DP4=24,13,17,20;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:51:.:.	0/1:74:255,0,255:37,37	C	T	0	1	Bromodomain-containing protein 2, 601540	.	.	.	1352711|21964340|8595877|7584044|1663500|8781126	GO_CHROMOSOME_ORGANIZATION;GO_MALE_GAMETE_GENERATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_SEXUAL_REPRODUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CHROMATIN_MODIFICATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CHROMATIN_ORGANIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_DNA_PACKAGING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_HISTONE_BINDING;GO_LYSINE_ACETYLATED_HISTONE_BINDING;GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_RB_1PATHWAY	.	.	Nuclear expression in several different tissues, with the highest level in spermatogonia in testis.	http://www.proteinatlas.org/ENSG00000204256-BRD2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 117.5	nucleus but not nucleoli	.	PM1
L	6	33256433	rs146022741	C	A	222	PASS	WDR46	WD repeat-containing protein 46	exonic	NM_001164267,NM_005452	.	synonymous SNV	WDR46:NM_001164267:exon3:c.G156T:p.V52V,WDR46:NM_005452:exon3:c.G318T:p.V106V	ENST00000374617.8,ENST00000481025.1,ENSG00000227057.9,ENST00000468157.5,ENST00000477718.5,ENST00000444176.1	.	6p21.32	.	.	.	.	.	rs146022741	.	.	0.0215947	0.0208	0.00479233	.	0.00067685	276280	0.00722022	18836	0.00544112	0.00529101	.	-0.2026	.	.	.	.	.	.	.	.	.	-0.091	0.282	1.652372,14.14	.	.	VDB=0.832311;SGB=-0.693147;RPB=0.243998;MQB=8.37488e-07;MQSB=0.83391;BQB=0.0370707;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=201;DP4=59,25,54,6;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:101:.:.	0/0:105:.:.	0/0:100:.:.	0/1:144:255,0,255:84,60	C	A	0	1	WD repeat-containing protein 46, 611440	.	.	.	9545376|11859131|24754225	GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_RIBOSOME_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_RRNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_RNA_PROCESSING;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_NCRNA_PROCESSING;GO_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA_;GO_NCRNA_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_TARGETING	GO_90S_PRERIBOSOME;GO_PRERIBOSOME;GO_SMALL_SUBUNIT_PROCESSOME;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Most of the normal cells showed weak to moderate nuclear membranous positivity with additional cytoplasmic staining in some cases. Thyroid gland displayed strong cytoplasmic staining while renal glomeruli showed strong membranous positivity. The liver, breast, urothelial cells, adrenal gland, smooth and heart muscle were negative.	http://www.proteinatlas.org/ENSG00000227057-WDR46/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 21.1	vesicles	.	BP7
L	6	33690824	rs201060100	G	A	222	PASS	IP6K3	Inositol hexaphosphate kinase 3	exonic	NM_001142883,NM_054111	.	synonymous SNV	IP6K3:NM_054111:exon6:c.C906T:p.I302I,IP6K3:NM_001142883:exon7:c.C906T:p.I302I	ENSG00000161896.11,ENST00000451316.6,ENST00000293756.4	.	6p21.31	.	.	.	.	.	rs201060100	.	.	0.00166113	0.005	0.000998403	.	0.00002030	246254	0.00028992	17246	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.036	.	2.88	.	VDB=0.369159;SGB=-0.693146;RPB=0.424614;MQB=2.27643e-07;MQSB=0.970686;BQB=0.952543;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=115;DP4=25,20,25,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:101:.:.	0/0:101:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:45,44	G	A	0	1	Inositol hexaphosphate kinase 3, 606993	.	.	.	11502751	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_INOSITOL_PHOSPHATE_METABOLIC_PROCESS;GO_POLYOL_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PHOSPHORYLATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POLYOL_BIOSYNTHETIC_PROCESS	.	GO_KINASE_ACTIVITY;GO_PHOSPHOTRANSFERASE_ACTIVITY_PHOSPHATE_GROUP_AS_ACCEPTOR;GO_INOSITOL_TRISPHOSPHATE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Gall bladder, glomeruli and peripheral nerves displayed strong cytoplasmic staining. Moderate cytoplasmic and/or membranous positivity was observed in adrenocortical cells, bronchus, renal tubules, rectum, stomach, Leydig cells and urothelial cells. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000161896-IP6K3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 8.8	.	.	.
H	6	34495239	rs201041422	A	G	222	PASS	PACSIN1	Protein kinase C and casein kinase substrate in neurons 1	exonic	NM_001199583,NM_020804	.	missense SNV	PACSIN1:NM_001199583:exon3:c.A194G:p.K65R,PACSIN1:NM_020804:exon3:c.A194G:p.K65R	ENST00000620693.4,ENST00000374043.6,ENST00000493633.5,ENSG00000124507.10,ENST00000487760.1,ENST00000538621.2,ENST00000244458.6,ENST00000486120.5	CpG: 37	6p21.31	.	.	.	.	.	rs201041422	.	.	0.0149502	0.0099	0.00199681	.	0.00122460	243344	0.01719768	16572	0.01204819	0.00968310	.	-1.8871	FCH domain	0.52,T	0.077,B	0.045,B	1,D	0.000004,D	1.845,L	0.76,T	14.0791	1.985	7.206	2.697311,20.8	4.75	.	VDB=5.59431e-06;SGB=-0.693147;RPB=0.269091;MQB=1.77312e-21;MQSB=0.275628;BQB=0.661728;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=213;DP4=51,31,34,39;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/1:155:255,0,255:82,73	A	G	0	1	Protein kinase C and casein kinase substrate in neurons 1, 606512	.	.	.	23035120|12354780|10718198|11179684	GO_NEURON_DEVELOPMENT;GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_CELL_PART_MORPHOGENESIS;GO_VESICLE_LOCALIZATION;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_SYNAPTIC_VESICLE_RECYCLING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_MEMBRANE_TUBULATION;GO_SYNAPTIC_VESICLE_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_VESICLE_MEMBRANE;GO_NEURON_PROJECTION_TERMINUS;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_CELL_PROJECTION_MEMBRANE;GO_NEURON_PART;GO_AXON;GO_GOLGI_APPARATUS_PART;GO_CELL_JUNCTION;GO_MYELIN_SHEATH;GO_LEADING_EDGE_MEMBRANE;GO_COPI_COATED_VESICLE;GO_INTRACELLULAR_VESICLE;GO_GOLGI_ASSOCIATED_VESICLE;GO_SYNAPSE;GO_RUFFLE_MEMBRANE;GO_NEURON_PROJECTION;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_COATED_VESICLE;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_GOLGI_APPARATUS;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_AXON_PART;GO_ENDOSOME	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Distinct cytoplasmic expression in CNS and peripheral nerves.	http://www.proteinatlas.org/ENSG00000124507-PACSIN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 3.0	.	.	PM1
L	6	37447798	rs116926451	C	T	222	PASS	CMTR1	CAP methyltransferase 1	exonic	NM_015050	.	synonymous SNV	CMTR1:NM_015050:exon24:c.C2385T:p.Y795Y	ENST00000457419.1,ENSG00000137200.12,ENST00000373451.8	.	6p21.2	.	.	.	.	.	rs116926451	.	.	0.0232558	0.0258	0.00519169	7.7e-05	0.00139523	242970	0.02144720	15340	0.02215313	0.02380952	.	.	.	.	.	.	.	.	.	.	.	2.688	1.441	.	5.16	.	VDB=0.374849;SGB=-0.693141;RPB=0.683084;MQB=6.81601e-10;MQSB=0.780862;BQB=0.893652;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=119;DP4=29,19,23,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:85:255,0,255:48,37	C	T	0	1	CAP methyltransferase 1, 616189	.	.	.	20713356|18533109|7788527|21310715	.	.	.	.	.	.	.	Ubiquitous nuclear expression, most abundant in cells in seminiferus ducts.	http://www.proteinatlas.org/ENSG00000137200-CMTR1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 48.0	nucleus but not nucleoli; cytoplasm	.	.
L	6	39282067	rs371385851	G	C	218	PASS	KCNK17	Potassium channel, subfamily K, member 17	exonic	NM_001135111,NM_031460	.	synonymous SNV	KCNK17:NM_001135111:exon1:c.C30G:p.P10P,KCNK17:NM_031460:exon1:c.C30G:p.P10P	ENST00000373231.8,ENSG00000124780.13,ENST00000453413.2,ENST00000503878.1	CpG: 119	6p21.2	.	.	.	.	.	rs371385851	.	.	0.00830565	0.006	0.00119808	.	0.00007150	111882	0.00087362	6868	0.00038880	.	.	.	.	.	.	.	.	.	.	.	.	-0.959	-0.299	.	.	.	VDB=0.342399;SGB=-0.69312;RPB=0.560169;MQB=1.95274e-07;MQSB=0.811135;BQB=0.628805;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=79;DP4=5,35,4,28;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:52:.:.	0/0:51:.:.	0/0:30:.:.	0/1:72:251,0,255:40,32	G	C	0	1	Potassium channel, subfamily K, member 17, 607370	.	.	.	11248242|11263999	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_STABILIZATION_OF_MEMBRANE_POTENTIAL;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_NARROW_PORE_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_TANDEM_PORE_DOMAIN_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	Most normal tissues cells were negative. Cells in seminiferus ducts showed strong nuclear positivity. Glandular cells of gastrointestinal tract displayed moderate cytoplasmic and membranous staining.	http://www.proteinatlas.org/ENSG00000124780-KCNK17/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 3.1	.	.	BP7
L-	6	39847207	rs139876341	A	G	222	PASS	DAAM2	Dishevelled-associated activator of morphogenesis 2	exonic	NM_001201427,NM_015345	.	missense SNV	DAAM2:NM_001201427:exon14:c.A1799G:p.Q600R,DAAM2:NM_015345:exon14:c.A1799G:p.Q600R	ENST00000538976.5,ENSG00000146122.16,ENST00000491083.2,ENST00000633794.1,ENST00000398904.6,ENST00000274867.8	.	6p21.2	.	.	Score=769;Name=V$PAX4_04	.	.	rs139876341	.	.	0.0431894	0.0456	0.0105831	8.2e-05	0.00205650	276684	0.02677909	18858	0.01671201	0.01587302	.	0.1654	Formin, FH2 domain	0.03,D	0.071,B	0.103,B	0.999982,D	0.000000,D	1.69,L	2.36,T	14.6457	1.930	7.402	2.775023,21.2	5.15	.	VDB=0.0668242;SGB=-0.693147;RPB=0.830498;MQB=4.66284e-15;MQSB=0.392911;BQB=0.73819;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=174;DP4=49,20,49,10;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:52:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:128:255,0,255:69,58	A	G	0	1	Dishevelled-associated activator of morphogenesis 2, 606627	.	.	.	11779461|22275430|9205841	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_SPECIFICATION_OF_SYMMETRY;GO_PATTERN_SPECIFICATION_PROCESS	.	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_RHO_GTPASE_BINDING;GO_ENZYME_BINDING;GO_GTPASE_BINDING	KEGG_WNT_SIGNALING_PATHWAY	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000146122-DAAM2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 56.1	nucleus; cytoplasm	.	PM1
L-	6	41121764	rs745437462	C	A	222	PASS	TREML1	Triggering receptor expressed on myeloid cells-like protein 1	exonic	NM_001271807,NM_178174	.	synonymous SNV	TREML1:NM_001271807:exon2:c.G108T:p.V36V,TREML1:NM_178174:exon2:c.G108T:p.V36V	ENST00000373127.8,ENST00000437044.2,ENST00000426005.6,ENSG00000161911.11	.	6p21.1	.	.	.	.	.	rs745437462	.	.	.	.	.	.	0.00002174	275932	0.00031803	18866	0.00058298	0.00352113	.	0.0152	.	.	.	.	.	.	.	.	.	0.400	0.221	1.014837,10.75	2.13	.	VDB=0.0338779;SGB=-0.693147;RPB=0.996006;MQB=2.06198e-29;MQSB=0.528605;BQB=0.987222;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=296;DP4=61,54,66,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:216:255,0,255:115,101	C	A	0	1	Triggering receptor expressed on myeloid cells-like protein 1, 609714	.	.	.	12645956|15128762|12393607	GO_IMMUNE_SYSTEM_PROCESS;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_CALCIUM_MEDIATED_SIGNALING;GO_WOUND_HEALING;GO_DEFENSE_RESPONSE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_RESPONSE;GO_HEMOSTASIS	GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_CELL_SURFACE	.	.	.	.	.	Expression in megakaryocytes in bone marrow and subtypes of cells in the spleen.	http://www.proteinatlas.org/ENSG00000161911-TREML1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 3.4	.	.	PM2
L	6	41908273	rs11552782	G	A	222	PASS	CCND3	Cyclin D3	exonic	NM_001136017,NM_001287427,NM_001760	.	synonymous SNV	CCND3:NM_001136017:exon2:c.C6T:p.N2N,CCND3:NM_001287427:exon2:c.C99T:p.N33N,CCND3:NM_001760:exon2:c.C249T:p.N83N	ENST00000502771.1,ENST00000415497.6,ENST00000372987.8,ENST00000511161.5,ENST00000372988.8,ENST00000505672.5,ENST00000511686.5,ENST00000616010.4,ENST00000505884.5,ENSG00000112576.12,ENST00000514588.1,ENST00000512426.5,ENST00000513956.5,ENST00000505064.1,ENST00000510058.1,ENST00000372991.8,ENST00000510503.5,ENST00000511642.5,ENST00000514382.5,ENST00000508143.5,ENST00000414200.6	.	6p21.1	.	.	.	.	.	rs11552782	.	.	0.013289	0.0129	0.00279553	.	0.00098893	277066	0.01388889	18864	0.01010494	0.00264085	.	-0.6384	.	.	.	.	1,D	.	.	.	5.5337	1.063	1.802	.	3.52	.	VDB=0.000948873;SGB=-0.693147;RPB=0.616933;MQB=9.38149e-12;MQSB=0.176773;BQB=0.993411;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=149;DP4=34,30,25,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:117:255,0,255:64,53	G	A	0	1	Cyclin D3, 123834	.	.	.	1386335|15315760|1383201|1387066|15327989|8661116|1386336	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_DIVISION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_T_CELL_PROLIFERATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CELL_ACTIVATION;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_ACTIVATION;GO_LEUKOCYTE_PROLIFERATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CELL_CYCLE;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BIOLOGICAL_ADHESION	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_TRANSFERASE_COMPLEX;GO_PROTEIN_KINASE_COMPLEX;GO_CELL_JUNCTION;GO_CELL_SUBSTRATE_JUNCTION;GO_CATALYTIC_COMPLEX;GO_ANCHORING_JUNCTION;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_HOLOENZYME_COMPLEX	GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_WNT_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_IL2_STAT5_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_CELLCYCLE_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	Nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000112576-CCND3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 112.5	plasma membrane; cytoplasm; focal adhesions	.	.
L	6	43014786	rs188565648	G	A	222	PASS	CUL7	Cullin 7	exonic	NM_001168370,NM_014780	.	synonymous SNV	CUL7:NM_001168370:exon10:c.C2481T:p.A827A,CUL7:NM_014780:exon10:c.C2229T:p.A743A	ENSG00000044090.8,ENST00000467906.5,ENSG00000137171.14,ENST00000478630.1,ENST00000535468.1,ENST00000265348.7	.	6p21.1	.	.	.	.	.	rs188565648	.	.	0.00166113	0.002	0.000399361	7.7e-05	0.00004331	277082	0.00026500	18868	.	0.00088028	.	-0.2208	.	.	.	.	.	.	.	.	.	-3.215	-5.300	1.522627,13.43	.	.	VDB=0.204211;SGB=-0.693146;RPB=0.954347;MQB=5.36125e-13;MQSB=0.990053;BQB=0.967097;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=117;DP4=23,27,18,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:92:255,0,255:50,42	G	A	0	1	3-M syndrome 1, 273750 (3), Autosomal recessive	.	.	.	12904573|12481031|19225462|16142236|17675530|7584044	GO_MITOTIC_CYTOKINESIS;GO_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_CELLULAR_CATABOLIC_PROCESS;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_PROTEIN_UBIQUITINATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_VASCULATURE_DEVELOPMENT;GO_VASCULOGENESIS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_MESENCHYME_DEVELOPMENT;GO_STEM_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_PLACENTA_DEVELOPMENT;GO_CYTOKINESIS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_PROTEOLYSIS;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSKELETON_DEPENDENT_CYTOKINESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_GOLGI_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ANAPHASE_PROMOTING_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_GOLGI_APPARATUS;GO_MICROTUBULE_ORGANIZING_CENTER;GO_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX	GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	General cytoplasmic expression, highest expression in myocytes.	http://www.proteinatlas.org/ENSG00000044090-CUL7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 16.3	nucleus; cytoplasm	.	BP7, PM2
L	6	43098295	rs56350986	A	G	222	PASS	PTK7	PTK7 protein tyrosine kinase 7	exonic	NM_001270398,NM_002821,NM_152880,NM_152881,NM_152882	.	synonymous SNV	PTK7:NM_001270398:exon5:c.A732G:p.V244V,PTK7:NM_002821:exon5:c.A708G:p.V236V,PTK7:NM_152880:exon5:c.A708G:p.V236V,PTK7:NM_152881:exon5:c.A708G:p.V236V,PTK7:NM_152882:exon5:c.A708G:p.V236V	ENST00000352931.6,ENST00000345201.6,ENST00000471863.5,ENST00000349241.6,ENST00000470019.5,ENST00000230418.8,ENST00000487673.5,ENSG00000112655.15,ENST00000230419.8,ENST00000481273.5	.	6p21.1	.	.	.	.	.	rs56350986	.	.	0.0116279	0.0119	0.00259585	.	0.00062449	277026	0.00826709	18870	0.00932763	0.00793651	.	0.1346	.	.	.	.	.	.	.	.	.	0.334	0.970	.	2.99	.	VDB=0.283074;SGB=-0.693147;RPB=0.990563;MQB=8.89838e-24;MQSB=0.810552;BQB=0.67996;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=209;DP4=59,35,43,26;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:163:255,0,255:94,69	A	G	0	1	PTK7 protein tyrosine kinase 7, 601890	.	.	.	9154124|27284198|8247543|27183644|15229603|7478540|8882711	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY;GO_CARDIAC_SEPTUM_DEVELOPMENT;GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY_INVOLVED_IN_NEURAL_TUBE_CLOSURE;GO_CORONARY_VASCULATURE_DEVELOPMENT;GO_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_LIPID;GO_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_EPITHELIAL_CELL_APICAL_BASAL_POLARITY;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_NEURAL_TUBE_DEVELOPMENT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_WOUND_HEALING;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EAR_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_RETINOIC_ACID;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CANONICAL_WNT_SIGNALING_PATHWAY;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ESTABLISHMENT_OF_TISSUE_POLARITY;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POLARIZED_EPITHELIAL_CELL_DIFFERENTIATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_NEUROGENESIS;GO_GROWTH;GO_EMBRYONIC_MORPHOGENESIS;GO_EAR_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_VENTRICULAR_SEPTUM_DEVELOPMENT;GO_TUBE_FORMATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_COCHLEA_DEVELOPMENT;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MESENCHYME_DEVELOPMENT;GO_MORPHOGENESIS_OF_A_POLARIZED_EPITHELIUM;GO_CONVERGENT_EXTENSION;GO_RESPONSE_TO_RETINOIC_ACID;GO_COCHLEA_MORPHOGENESIS;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_TUBE_MORPHOGENESIS;GO_REGULATION_OF_EMBRYONIC_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_BIPOLAR_CELL_POLARITY;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_ACTIN_CYTOSKELETON_REORGANIZATION;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_AXIS_ELONGATION;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DEVELOPMENTAL_GROWTH;GO_INNER_EAR_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_CELL_SUBSTRATE_JUNCTION;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_CORECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Strong cytoplasmic staining was observed basal squamous epithelial cells of esophagus. Myocytes, glial cells and mot lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000112655-PTK7/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	endometrium: 62.7	.	.	.
H	6	47649383	rs193008567	G	C	222	PASS	ADGRF2	.	exonic	NM_153839	.	missense SNV	ADGRF2:NM_153839:exon7:c.G884C:p.G295A	ENST00000296862.5,ENSG00000164393.8,ENST00000467205.6,ENST00000398742.2,ENST00000507065.5	.	6p12.3	.	.	.	.	.	rs193008567	.	.	0.00166113	0.001	0.000199681	.	0.00001084	276806	0.00010603	18862	.	.	.	0.0225	.	0.004,D	0.968,D	0.999,D	0.645652,N	0.000006,D	3.2,M	1.05,T	18.4281	2.598	4.821	4.208396,23.9	5.52	0.00642968322355	VDB=0.460384;SGB=-0.692831;RPB=0.884432;MQB=1.31747e-06;MQSB=0.905992;BQB=0.880381;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=67;DP4=19,9,18,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:39:.:.	0/0:40:.:.	0/0:30:.:.	0/0:30:.:.	0/1:52:255,0,255:28,24	G	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
H	6	51921514	rs141384205	G	A	222	PASS	PKHD1	Fibrocystin	exonic	NM_138694,NM_170724	.	missense SNV	PKHD1:NM_138694:exon18:c.C1675T:p.R559W,PKHD1:NM_170724:exon18:c.C1675T:p.R559W	ENSG00000170927.14,ENST00000371117.7,ENST00000340994.4	.	6p12.2	.	.	.	.	.	rs141384205	.	.	0.038206	0.0337	0.00698882	.	0.00152532	276664	0.02195122	18860	0.01651768	0.01584507	.	-1.0196	.	0.214,T	0.004,B	0.017,B	1,N	0.943106,N	0.65,N	-2.28,D	4.9998	-0.035	0.512	1.880633,15.47	.	.	VDB=0.0114007;SGB=-0.69168;RPB=0.407824;MQB=3.02593e-06;MQSB=0.920208;BQB=0.862779;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=118;DP4=36,12,37,5;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:32:.:.	0/0:31:.:.	0/1:42:247,0,255:23,19	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:25,23	G	A	0	2	Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive	.	.	.	16523049|15706593|15108277|15108281|12506140|21685914|7726165|15067314|17470460|11135065|16133180|19021639|7977390|11898128|11337358|16959974|11919560|21274727|12925574|7920664|20554582|14983006	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_REGULATION_OF_MAPK_CASCADE;GO_CELL_PROJECTION_ASSEMBLY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_CELL_ADHESION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_CILIUM_MORPHOGENESIS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_CILIUM_ORGANIZATION;GO_REGULATION_OF_CENTROSOME_CYCLE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_CENTROSOME_DUPLICATION;GO_REGULATION_OF_CELL_CYCLE;GO_ORGANELLE_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_TOR_SIGNALING;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ION_HOMEOSTASIS;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_ANCHORED_COMPONENT_OF_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_CHROMOSOME_CENTROMERIC_REGION;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CHROMOSOMAL_REGION;GO_MITOTIC_SPINDLE;GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_PRIMARY_CILIUM;GO_SPINDLE;GO_INTRINSIC_COMPONENT_OF_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION;GO_CILIUM;GO_ANCHORED_COMPONENT_OF_PLASMA_MEMBRANE;GO_CILIARY_BASAL_BODY;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_RECEPTOR_ACTIVITY	.	.	.	.	High cytoplasmic expression in kidney.	http://www.proteinatlas.org/ENSG00000170927-PKHD1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	gallbladder: 1.1	.	.	.
L	6	52847489	rs763750694	G	A	222	PASS	GSTA4	Glutathione S-transferase, alpha-4	exonic	NM_001512	.	synonymous SNV	GSTA4:NM_001512:exon6:c.C429T:p.H143H	ENST00000370963.8,ENST00000370959.1,ENST00000457564.1,ENST00000486559.5,ENSG00000170899.10,ENST00000477599.5,ENST00000370960.5	.	6p12.2	.	.	.	.	.	rs763750694	.	.	.	.	.	.	0.00006151	276396	0.00084989	18826	0.00038865	.	.	1.1388	.	.	.	.	.	.	.	.	.	-1.858	-1.206	.	.	.	VDB=0.052699;SGB=-0.692717;RPB=0.999091;MQB=0.000178407;MQSB=0.938885;BQB=0.207104;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=73;DP4=19,13,15,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:36:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/1:55:255,0,255:32,23	G	A	0	1	Glutathione S-transferase, alpha-4, 605450	.	.	.	9480897|9820822|9461507|12042665	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_GLUTATHIONE_DERIVATIVE_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLUTATHIONE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	.	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYL_OTHER_THAN_METHYL_GROUPS;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_GLUTATHIONE_TRANSFERASE_ACTIVITY	KEGG_GLUTATHIONE_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUTATHIONE_CONJUGATION;REACTOME_PHASE_II_CONJUGATION	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000170899-GSTA4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 241.2	.	.	BP7, PM2
L	6	55360250	rs772836157	T	A	222	PASS	HMGCLL1	.	exonic	NM_001042406,NM_001287741,NM_001287746,NM_001287753,NM_019036	.	synonymous SNV	HMGCLL1:NM_001287753:exon4:c.A453T:p.G151G,HMGCLL1:NM_001287741:exon6:c.A666T:p.G222G,HMGCLL1:NM_001042406:exon7:c.A762T:p.G254G,HMGCLL1:NM_001287746:exon8:c.A465T:p.G155G,HMGCLL1:NM_019036:exon8:c.A852T:p.G284G	ENST00000508459.5,ENST00000370850.6,ENSG00000146151.12,ENST00000308161.8,ENST00000398661.6,ENST00000370852.6,ENST00000274901.8	.	6p12.1	.	.	.	.	.	rs772836157	.	.	.	.	.	.	0.00001083	276910	0.00015922	18842	0.00077730	.	.	-1.9468	.	.	.	.	.	.	.	.	.	2.133	0.710	.	4.26	.	VDB=0.65126;SGB=-0.69311;RPB=0.993367;MQB=6.53333e-09;MQSB=0.94717;BQB=0.990235;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=74;DP4=20,5,24,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:56:255,0,255:25,31	T	A	0	1	.	.	.	.	.	GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_KETONE_BODY_METABOLIC_PROCESS	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_CARBON_CARBON_LYASE_ACTIVITY;GO_LYASE_ACTIVITY	.	.	.	.	Most normal tissues showed weak to moderate nuclear staining. Endocrine glands, trophoblastic cells, cells in seminiferus ducts, epididymis and neurons in cerebral cortex displayed strong nuclear positivity. Bile duct cells, renal glomeruli and alveolar cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000146151-HMGCLL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 3.5	.	.	PM2
L	6	62688037	rs199618992	A	C	222	PASS	KHDRBS2	KH domain-containing, RNA-binding, signal transduction-associated protein 2	exonic	NM_001350622,NM_152688	.	synonymous SNV	KHDRBS2:NM_001350622:exon4:c.T417G:p.A139A,KHDRBS2:NM_152688:exon4:c.T417G:p.A139A	ENST00000281156.4,ENSG00000112232.8	.	6q11.1	.	.	Score=886;Name=V$HNF3B_01	.	.	rs199618992	.	.	0.00830565	0.006	0.00119808	.	0.00041341	275758	0.00606770	18788	0.00893898	0.00528169	.	1.8983	.	.	.	.	.	.	.	.	.	0.052	0.890	.	.	.	VDB=0.75748;SGB=-0.693054;RPB=0.965617;MQB=1.53422e-07;MQSB=0.509513;BQB=0.994085;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=154;DP4=44,7,40,13;MinDP=28;AN=18;AC=2	GT:DP:PL:AD	0/0:28:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:58:255,0,255:30,28	0/1:46:255,0,255:21,25	A	C	0	2	KH domain-containing, RNA-binding, signal transduction-associated protein 2, 610487	.	.	.	12529443	.	.	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_POLY_A_BINDING;GO_POLY_PYRIMIDINE_TRACT_BINDING;GO_SINGLE_STRANDED_RNA_BINDING;GO_POLY_PURINE_TRACT_BINDING;GO_SH3_DOMAIN_BINDING;GO_SH2_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_RNA_BINDING	.	.	.	.	Nuclear expression in several cell types of varying intensity.	http://www.proteinatlas.org/ENSG00000112232-KHDRBS2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	spleen: 1.2	.	.	BP7
H	6	74351566	rs754164697	G	A	222	PASS	SLC17A5	Solute carrier family 17 (sodium phosphate), member 5	exonic	NM_012434	.	missense SNV	SLC17A5:NM_012434:exon3:c.C373T:p.P125S	ENST00000481996.1,ENST00000355773.5,ENSG00000119899.12	.	6q13	.	.	.	.	.	rs754164697	.	.	.	.	.	.	0.00001804	277208	0.00026503	18866	0.00038865	0.00088028	.	-0.1605	Major facilitator superfamily domain	0.0,D	0.998,D	1.0,D	1,D	0.000000,D	3.79,H	0.08,T	16.1051	1.421	9.239	6.100779,28.2	4.89	0.104415316014	VDB=0.231533;SGB=-0.692717;RPB=0.916741;MQB=8.76419e-07;MQSB=0.572273;BQB=0.998724;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=56;DP4=12,7,9,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:42:255,0,255:19,23	G	A	0	1	Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive	.	.	.	10947946|7573152|16170568|12121352|2334213|8198127|10100616|9852127|12794688|10069709|2010546|12794687|18695252|15510212|7557994|7573051|16158439|7151835|10581036|15516337	GO_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_AMINO_ACID_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_HYDROGEN_TRANSPORT;GO_CARBOHYDRATE_DERIVATIVE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT	GO_VESICLE_MEMBRANE;GO_EXOCYTIC_VESICLE;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_VACUOLAR_PART;GO_CYTOPLASMIC_VESICLE_PART;GO_LYTIC_VACUOLE;GO_PRESYNAPSE;GO_LYTIC_VACUOLE_MEMBRANE;GO_TRANSPORT_VESICLE;GO_SYNAPSE_PART;GO_TRANSPORT_VESICLE_MEMBRANE;GO_EXOCYTIC_VESICLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_DERIVATIVE_TRANSPORTER_ACTIVITY;GO_CATION_SUGAR_SYMPORTER_ACTIVITY;GO_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SOLUTE_PROTON_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	KEGG_LYSOSOME	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	A subset of lymphoid cells, lung macrophages and inflammatory cells in the stroma showed strong staining. Stomach small intestine and renal tubules showed moderate cytoplasmic positivity. Most remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000119899-SLC17A5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 40.7	plasma membrane; cytoplasm	.	PM2, PP3
H	6	79607785	rs200096883	C	A	222	PASS	IRAK1BP1	Interleukin 1 receptor-associated kinase 1-binding protein 1	exonic	NM_001010844	.	missense SNV	IRAK1BP1:NM_001010844:exon4:c.C517A:p.Q173K	ENST00000606868.5,ENST00000607739.1,ENST00000369940.6,ENSG00000146243.13	.	6q14.1	.	.	.	.	.	rs200096883	.	.	0	0.001	0.000399361	.	0.00038706	273862	0.00564010	18794	0.00524679	0.00352113	.	.	.	0.116,T	0.003,B	0.001,B	0.991334,N	0.006041,N	2.295,M	.	7.5158	0.601	1.307	2.182793,17.40	3.1	0.00169033571547	VDB=0.135952;SGB=-0.688148;RPB=0.68709;MQB=0.00017807;MQSB=0.84077;BQB=0.904023;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=80;DP4=20,14,16,12;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:32:.:.	0/1:36:255,0,255:21,15	0/0:32:.:.	0/0:30:.:.	0/0:31:.:.	0/0:46:.:.	0/1:26:255,0,255:13,13	C	A	0	2	Interleukin 1 receptor-associated kinase 1-binding protein 1, 615375	.	.	.	15485901|17079333|11096118	GO_IMMUNE_SYSTEM_PROCESS;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_IMMUNE_RESPONSE	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000146243-IRAK1BP1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 3.3	.	.	.
H	6	82901606	rs142130349	A	G	222	PASS	IBTK	Inhibitor of Bruton agammaglobulinemia tyrosine kinase	splicing	NM_001300906,NM_015525	NM_001300906:exon24:c.3294-10T>C;NM_015525:exon24:c.3339-10T>C	.	.	ENST00000445419.6,ENST00000505222.5,ENST00000369751.2,ENST00000306270.11,ENST00000503631.5,ENST00000510291.5,ENST00000503400.5,ENST00000610980.4,ENSG00000005700.14	.	6q14.1	.	.	.	.	.	rs142130349	.	.	0.0299003	0.0317	0.00938498	7.7e-05	0.00681508	260452	0.03388056	18152	0.02856588	0.01408451	0.0127,0.194	-1.9849	.	.	.	.	.	.	.	.	.	1.131	2.506	1.787097,14.91	4.62	.	VDB=0.370368;SGB=-0.692717;RPB=0.885675;MQB=0.000474799;MQSB=0.869684;BQB=0.898404;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=50;DP4=8,7,9,14;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:31:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:38:255,0,255:15,23	A	G	0	1	Inhibitor of Bruton agammaglobulinemia tyrosine kinase, 606457	.	.	.	11577348	GO_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_CHEMICAL_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_METAL_ION_TRANSPORT;GO_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_CALCIUM_ION_IMPORT;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_CYTOSOLIC_CALCIUM_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CALCIUM_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CALCIUM_ION_IMPORT_INTO_CYTOSOL;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	.	GO_KINASE_INHIBITOR_ACTIVITY;GO_KINASE_BINDING;GO_KINASE_REGULATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING	.	PID_BCR_5PATHWAY	.	.	Cytoplasmic expression most abundant in Purkinje cells and in a subset of leukocytes in several tissues.	http://www.proteinatlas.org/ENSG00000005700-IBTK/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 22.0	nucleus but not nucleoli	.	BS1
L	6	84234102	rs139406931	C	T	222	PASS	PRSS35	.	exonic	NM_001170423,NM_153362	.	synonymous SNV	PRSS35:NM_153362:exon2:c.C942T:p.N314N,PRSS35:NM_001170423:exon3:c.C942T:p.N314N	ENSG00000146250.6,ENST00000369700.3	.	6q14.2	.	.	.	.	.	rs139406931	.	.	0.0182724	0.0129	0.00259585	7.7e-05	0.00094748	276522	0.01336303	18858	0.01535173	0.02024648	.	.	.	.	.	.	.	.	.	.	.	-1.074	-0.822	1.654901,14.15	.	.	VDB=0.315109;SGB=-0.692914;RPB=0.99955;MQB=2.41789e-07;MQSB=0.7626;BQB=0.804286;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=143;DP4=36,27,33,18;MinDP=40;AN=18;AC=2	GT:DP:PL:AD	0/0:41:.:.	0/0:50:.:.	0/0:61:.:.	0/0:51:.:.	0/0:50:.:.	0/1:49:255,0,255:24,25	0/0:40:.:.	0/0:52:.:.	0/1:65:255,0,255:39,26	C	T	0	2	.	.	.	.	.	.	GO_MITOCHONDRION	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000146250-PRSS35/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 5.1	nucleus; nucleoli	.	BP7
H	6	88768503	rs117777526	G	A	222	PASS	SPACA1	Sperm acrosome-associated 1	exonic	NM_030960	.	missense SNV	SPACA1:NM_030960:exon4:c.G437A:p.R146H	ENSG00000118434.8,ENST00000237201.1	.	6q15	.	.	.	.	.	rs117777526	.	.	0.00498339	0.005	0.00119808	7.7e-05	0.00062644	276162	0.00457739	18788	0.00796735	0.00880282	.	-0.0962	.	0.0,D	0.969,D	1.0,D	0.988258,D	0.000001,D	2.31,M	1.66,T	12.9309	1.498	4.272	5.725198,26.9	4.99	0.0289121702733	VDB=0.767656;SGB=-0.692067;RPB=0.939944;MQB=0.000161038;MQSB=0.431687;BQB=0.953687;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=41;DP4=9,1,15,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:30:255,0,190:10,20	G	A	0	1	Sperm acrosome-associated 1, 612739	.	.	.	11870081	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_VESICLE_ORGANIZATION;GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_SECRETORY_GRANULE_ORGANIZATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_ACROSOME_ASSEMBLY;GO_ORGANELLE_ASSEMBLY;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_SPERMATID_DIFFERENTIATION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_ACROSOMAL_MEMBRANE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_SECRETORY_GRANULE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ACROSOMAL_VESICLE	.	.	.	.	.	Selective cytoplasmic expression in a subset of cells in seminiferous ducts.	http://www.proteinatlas.org/ENSG00000118434-SPACA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PP3
L	6	96034869	rs113485216	G	GTA	225	PASS	MANEA	Mannosidase, endo-alpha	splicing	NM_024641	NM_024641:exon2:c.544+10->TA	.	.	ENSG00000172469.15,ENST00000369293.5,ENST00000358812.8	.	6q16.1	.	.	.	.	Score=215;Name="4049529:(TATATG)n(Simple_repeat)"	rs113485216	.	.	.	.	.	.	0.00191304	217978	0.01136699	13548	0.08715953	0.03199269	.	.	.	.	.	.	.	.	.	.	.	.	.	1.962220,12.52	.	.	INDEL;VDB=0.00452558;SGB=-0.693147;MQSB=0.956358;MQ0F=0;MQ=49;DP=338;DP4=1,1,101,146;IDV=43;IMF=0.811321;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:45:255,.,.:0,.	0/0:32:.:.	1/2:37:255,122,57,255,.,255:1,27,7	0/0:47:255,.,.:1,.	0/0:40:255,.,.:0,.	0/0:24:255,.,.:0,.	0/0:46:.:.	1/2:56:255,181,46,255,.,255:0,45,7	G	GTATA,GTA	0	2	Mannosidase, endo-alpha, 612327	.	.	.	15677381|15760709	.	GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_MANNOSIDASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	.	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_TRANSPORT_TO_THE_GOLGI_AND_SUBSEQUENT_MODIFICATION	Granular cytoplasmic expression in several tissues. Highest expression in subsets of inflammatory cells.	http://www.proteinatlas.org/ENSG00000172469-MANEA/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	urinary bladder: 12.6	golgi apparatus	.	BS1
L	6	97562348	rs140326190	T	C	222	PASS	KLHL32	.	exonic	NM_001286250,NM_001286251,NM_001286252,NM_001323252,NM_001323253,NM_001323254,NM_001323255,NM_001323257,NM_001323260,NM_001323261,NM_001323262,NM_001323263,NM_001323264,NM_052904	.	synonymous SNV	KLHL32:NM_001323264:exon4:c.T909C:p.H303H,KLHL32:NM_001286251:exon5:c.T1110C:p.H370H,KLHL32:NM_001323261:exon5:c.T648C:p.H216H,KLHL32:NM_001323262:exon5:c.T648C:p.H216H,KLHL32:NM_001323263:exon5:c.T1125C:p.H375H,KLHL32:NM_001286250:exon6:c.T1209C:p.H403H,KLHL32:NM_001323254:exon6:c.T1101C:p.H367H,KLHL32:NM_001323255:exon6:c.T1101C:p.H367H,KLHL32:NM_001323257:exon6:c.T1101C:p.H367H,KLHL32:NM_001286252:exon7:c.T1317C:p.H439H,KLHL32:NM_001323253:exon7:c.T1317C:p.H439H,KLHL32:NM_001323260:exon7:c.T648C:p.H216H,KLHL32:NM_052904:exon7:c.T1317C:p.H439H,KLHL32:NM_001323252:exon8:c.T1317C:p.H439H	ENST00000544166.5,ENSG00000186231.16,ENST00000369254.5,ENST00000369261.8,ENST00000539200.5,ENST00000620278.1,ENST00000536676.5	.	6q16.1	.	.	.	.	.	rs140326190	.	.	0.0215947	0.0228	0.00658946	7.7e-05	0.00144369	277068	0.01617008	18862	0.01010494	0.01056338	.	0.0025	.	.	.	.	.	.	.	.	.	-0.035	-0.207	.	.	.	VDB=0.0903664;SGB=-0.693143;RPB=0.695052;MQB=2.95952e-14;MQSB=0.829606;BQB=0.989421;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=113;DP4=21,26,20,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:85:255,0,255:47,38	T	C	0	1	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in CNS, highly abundant in astrocytes.	http://www.proteinatlas.org/ENSG00000186231-KLHL32/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	testis: 1.7	.	.	BP7
H	6	99893693	rs112671344	T	C	151	PASS	USP45	.	exonic	NM_001080481,NM_001346021,NM_001346022,NM_001346023,NM_001346024,NM_001346025,NM_001346026,NM_001346027,NM_001346028,NM_001346029	.	missense SNV	USP45:NM_001346024:exon12:c.A1781G:p.Q594R,USP45:NM_001346025:exon12:c.A1778G:p.Q593R,USP45:NM_001346028:exon13:c.A875G:p.Q292R,USP45:NM_001080481:exon14:c.A1955G:p.Q652R,USP45:NM_001346021:exon14:c.A1955G:p.Q652R,USP45:NM_001346022:exon14:c.A1955G:p.Q652R,USP45:NM_001346023:exon14:c.A1952G:p.Q651R,USP45:NM_001346026:exon14:c.A1955G:p.Q652R,USP45:NM_001346027:exon14:c.A875G:p.Q292R,USP45:NM_001346029:exon14:c.A875G:p.Q292R	ENST00000327681.10,ENST00000369233.6,ENST00000500704.6,ENSG00000123552.17,ENST00000496518.6	.	6q16.2	.	.	.	.	.	rs112671344	.	.	0.0149502	0.0089	0.00459265	0.0020	0.00110318	251092	0.00325714	17500	0.00408401	0.00352734	.	-0.0324	Peptidase C19, ubiquitin carboxyl-terminal hydrolase;Ubiquitin specific protease domain	0.833,T	0.01,B	0.012,B	0.999821,D	0.162229,N	1.54,L	2.15,T	1.8778	-0.766	0.866	.	.	.	VDB=0.393696;SGB=-0.676189;RPB=0.995161;MQB=0.000373981;MQSB=1;BQB=0.714004;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=26;DP4=11,0,10,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:11:.:.	0/1:22:184,0,160:11,11	T	C	0	1	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_DNA_REPAIR;GO_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_PROTEOLYSIS;GO_DNA_METABOLIC_PROCESS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000123552-USP45/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 6.1	nucleus; cytoplasm	.	PM1
H	6	99893698	rs112157723	C	A	157	PASS	USP45	.	exonic	NM_001080481,NM_001346021,NM_001346022,NM_001346023,NM_001346024,NM_001346025,NM_001346026,NM_001346027,NM_001346028,NM_001346029	.	missense SNV	USP45:NM_001346024:exon12:c.G1776T:p.K592N,USP45:NM_001346025:exon12:c.G1773T:p.K591N,USP45:NM_001346028:exon13:c.G870T:p.K290N,USP45:NM_001080481:exon14:c.G1950T:p.K650N,USP45:NM_001346021:exon14:c.G1950T:p.K650N,USP45:NM_001346022:exon14:c.G1950T:p.K650N,USP45:NM_001346023:exon14:c.G1947T:p.K649N,USP45:NM_001346026:exon14:c.G1950T:p.K650N,USP45:NM_001346027:exon14:c.G870T:p.K290N,USP45:NM_001346029:exon14:c.G870T:p.K290N	ENST00000327681.10,ENST00000369233.6,ENST00000500704.6,ENSG00000123552.17,ENST00000496518.6	.	6q16.2	.	.	.	.	.	rs112157723	.	.	0.0149502	0.0089	0.00459265	0.0017	0.00102576	251522	0.00319343	17536	0.00408401	0.00352734	.	-0.0325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase;Ubiquitin specific protease domain	0.15,T	0.782,P	0.969,D	0.999988,N	0.177852,N	1.995,M	2.06,T	6.6009	0.692	0.692	1.538856,13.52	2.71	.	VDB=0.372438;SGB=-0.680642;RPB=0.997828;MQB=0.000399184;MQSB=1;BQB=0.821851;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=29;DP4=10,0,11,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:12:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:11:.:.	0/1:22:190,0,155:10,12	C	A	0	1	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_DNA_REPAIR;GO_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_PROTEOLYSIS;GO_DNA_METABOLIC_PROCESS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000123552-USP45/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 6.1	nucleus; cytoplasm	.	PM1
H	6	99894012	rs189281869	T	A	222	PASS	USP45	.	exonic	NM_001080481,NM_001346021,NM_001346022,NM_001346023,NM_001346024,NM_001346025,NM_001346026,NM_001346027,NM_001346028,NM_001346029	.	stopgain	USP45:NM_001346024:exon12:c.A1462T:p.K488X,USP45:NM_001346025:exon12:c.A1459T:p.K487X,USP45:NM_001346028:exon13:c.A556T:p.K186X,USP45:NM_001080481:exon14:c.A1636T:p.K546X,USP45:NM_001346021:exon14:c.A1636T:p.K546X,USP45:NM_001346022:exon14:c.A1636T:p.K546X,USP45:NM_001346023:exon14:c.A1633T:p.K545X,USP45:NM_001346026:exon14:c.A1636T:p.K546X,USP45:NM_001346027:exon14:c.A556T:p.K186X,USP45:NM_001346029:exon14:c.A556T:p.K186X	ENST00000327681.10,ENST00000369233.6,ENST00000500704.6,ENST00000513344.1,ENSG00000123552.17,ENST00000496518.6	.	6q16.2	.	.	.	.	.	rs189281869	.	.	0.0149502	0.0089	0.00199681	.	0.00046948	276900	0.00313064	18846	0.00408243	0.00352113	.	-19.8171	Peptidase C19, ubiquitin carboxyl-terminal hydrolase;Ubiquitin specific protease domain	.	.	.	1,A	0.895554,N	.	.	7.3983	0.335	2.458	7.523878,34	2.37	.	VDB=0.444903;SGB=-0.69312;RPB=0.67291;MQB=0.049456;MQSB=0.216496;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=90;DP4=27,11,22,10;MinDP=35;AN=18;AC=1	GT:DP:PL:AD	0/0:35:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:38,32	T	A	0	1	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_DNA_REPAIR;GO_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_PROTEOLYSIS;GO_DNA_METABOLIC_PROCESS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000123552-USP45/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 6.1	nucleus; cytoplasm	.	PM1, PP3
H	6	109767031	rs777816264	ACT	A	222	PASS	MICAL1	Microtubule-associated monooxygenase, calponin and LIM domains-containing 1	exonic	NM_001159291,NM_001286613,NM_022765	.	frameshift deletion	MICAL1:NM_001159291:exon19:c.2356_2357del:p.S786fs,MICAL1:NM_001286613:exon20:c.2671_2672del:p.S891fs,MICAL1:NM_022765:exon20:c.2614_2615del:p.S872fs	ENST00000358807.7,ENST00000630715.2,ENSG00000135596.17,ENST00000358577.7,ENST00000465904.1,ENST00000456101.6	.	6q21	.	.	.	.	.	rs777816264	.	.	.	.	.	.	0.00008874	270438	0.00123153	18676	0.00097163	0.00088183	.	.	.	.	.	.	.	.	.	.	.	.	.	5.512969,35	.	.	INDEL;VDB=0.00410982;SGB=-0.692717;MQSB=0.973096;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=64;DP4=16,15,11,12;IDV=28;IMF=0.4375;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:54:255,0,255:31,23	ACT	A	0	1	Microtubule-associated monooxygenase, calponin and LIM domains-containing 1, 607129	.	.	.	22116028|20148037|11827972|12110185	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_PROTEIN_COMPLEX_DISASSEMBLY;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_DEATH;GO_ACTIN_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_MACROMOLECULAR_COMPLEX_DISASSEMBLY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_PROTEIN_DEPOLYMERIZATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIN_FILAMENT_ORGANIZATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_FAD_BINDING;GO_SH3_DOMAIN_BINDING;GO_MONOOXYGENASE_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_ENZYME_BINDING;GO_COFACTOR_BINDING;GO_ZINC_ION_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_GTPASE_BINDING;GO_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;GO_COENZYME_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000135596-MICAL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 26.0	nucleus but not nucleoli; cytoplasm; plasma membrane	.	PM2
H	6	111279974	rs531916846	T	TGGC	222	PASS	GTF3C6	General transcription factor 3C, polypeptide 6	exonic	NM_138408	.	nonframeshift insertion	GTF3C6:NM_138408:exon1:c.2_3insGGC:p.M1delinsMA	ENST00000329970.7,ENSG00000155115.6	CpG: 61	6q21	.	.	.	.	.	rs531916846	.	.	0.0182724	0.0169	0.00439297	0.0008	0.00230038	174754	0.01275599	11524	0.00485814	0.00529101	.	.	.	.	.	.	.	.	.	.	.	.	.	1.119133,9.564	.	.	INDEL;VDB=0.10149;SGB=-0.691153;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=41;DP4=11,5,11,7;IDV=18;IMF=0.439024;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:34:255,0,255:16,18	T	TGGC	0	1	General transcription factor 3C, polypeptide 6, 611784	.	.	.	17409385	GO_TRNA_METABOLIC_PROCESS;GO_RRNA_TRANSCRIPTION;GO_NCRNA_TRANSCRIPTION;GO_NCRNA_METABOLIC_PROCESS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER	GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX	.	.	.	.	.	Mainly nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000155115-GTF3C6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 33.3	.	.	PM4
H	6	118014326	rs28362519	T	A	222	PASS	NUS1	Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of	exonic	NM_138459	.	missense SNV	NUS1:NM_138459:exon2:c.T537A:p.D179E	ENSG00000153989.7,ENST00000368494.3	.	6q22.1	.	.	.	.	.	rs28362519	.	.	0.00830565	0.0099	0.00199681	.	0.00067069	275836	0.00962356	18808	0.01418578	0.01408451	.	0.2060	.	0.731,T	0.006,B	0.007,B	0.917785,D	0.000005,N	1.48,L	2.36,T	6.7153	0.910	0.528	1.196967,11.73	2.63	0.00451005274725	VDB=0.081093;SGB=-0.692562;RPB=0.249233;MQB=4.05908e-08;MQSB=0.506348;BQB=0.722837;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=81;DP4=27,3,17,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:52:255,0,255:30,22	T	A	0	1	?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive	.	.	.	19723497|21572394|16835300|25066056	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_STEROL_HOMEOSTASIS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_LIPID_HOMEOSTASIS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PROTEIN_MANNOSYLATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_LIPID_TRANSPORT;GO_VASCULATURE_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_STEROL_TRANSPORT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ISOPRENOID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_GLYCOSYLATION;GO_ANGIOGENESIS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_MANNOSYLATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_OLIGOSACCHARIDE_LIPID_INTERMEDIATE_BIOSYNTHETIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYL_OTHER_THAN_METHYL_GROUPS;GO_PRENYLTRANSFERASE_ACTIVITY	.	.	.	.	Expression mainly in endothelial cells and adipocytes.	http://www.proteinatlas.org/ENSG00000153989-NUS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 27.4	.	.	.
L	6	126342360	rs142685524	C	T	222	PASS	TRMT11	.	exonic	NM_001031712,NM_001350580,NM_001350581,NM_001350582,NM_001350583,NM_001350584,NM_001350585,NM_001350586,NM_001350587,NM_001350588,NM_001350589,NM_001350590,NM_001350591,NM_001350592,NM_001350593,NM_001350594,NM_001350595,NM_001350596,NM_001350597	.	synonymous SNV	TRMT11:NM_001350585:exon11:c.C600T:p.C200C,TRMT11:NM_001031712:exon12:c.C1194T:p.C398C,TRMT11:NM_001350580:exon12:c.C1158T:p.C386C,TRMT11:NM_001350581:exon12:c.C1005T:p.C335C,TRMT11:NM_001350582:exon12:c.C1005T:p.C335C,TRMT11:NM_001350583:exon12:c.C1005T:p.C335C,TRMT11:NM_001350584:exon12:c.C1005T:p.C335C,TRMT11:NM_001350586:exon12:c.C495T:p.C165C,TRMT11:NM_001350588:exon12:c.C495T:p.C165C,TRMT11:NM_001350594:exon12:c.C495T:p.C165C,TRMT11:NM_001350587:exon13:c.C495T:p.C165C,TRMT11:NM_001350591:exon13:c.C495T:p.C165C,TRMT11:NM_001350592:exon13:c.C495T:p.C165C,TRMT11:NM_001350595:exon13:c.C495T:p.C165C,TRMT11:NM_001350596:exon13:c.C495T:p.C165C,TRMT11:NM_001350597:exon13:c.C495T:p.C165C,TRMT11:NM_001350589:exon14:c.C495T:p.C165C,TRMT11:NM_001350590:exon14:c.C495T:p.C165C,TRMT11:NM_001350593:exon15:c.C495T:p.C165C	ENSG00000066651.18,ENST00000466316.1,ENST00000479748.5,ENST00000368332.7,ENST00000334379.10	.	6q22.32	.	.	.	.	.	rs142685524	.	.	0.013289	0.0079	0.0071885	0.0008	0.00932307	277162	0.01320115	18862	0.01049359	0.00880282	.	-2.6166	.	.	.	.	.	.	.	.	.	-0.724	0.113	2.083394,16.75	.	.	VDB=0.174465;SGB=-0.693143;RPB=0.946611;MQB=4.23485e-10;MQSB=0.926048;BQB=0.878976;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=98;DP4=18,17,20,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:73:255,0,255:35,38	C	T	0	1	.	.	.	.	.	GO_TRNA_METABOLIC_PROCESS;GO_RNA_METHYLATION;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_METHYLATION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_TRNA_PROCESSING;GO_TRNA_MODIFICATION	.	GO_RNA_METHYLTRANSFERASE_ACTIVITY;GO_N_METHYLTRANSFERASE_ACTIVITY;GO_TRNA_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_TRNA_METHYLTRANSFERASE_ACTIVITY;GO_RNA_BINDING	KEGG_HISTIDINE_METABOLISM;KEGG_TYROSINE_METABOLISM;KEGG_SELENOAMINO_ACID_METABOLISM	.	.	.	.	http://www.proteinatlas.org/ENSG00000066651-TRMT11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 16.0	.	.	BP7
H	6	127770982	rs75605019	C	T	221	PASS	KIAA0408	.	exonic	NM_014702	.	missense SNV	KIAA0408:NM_014702:exon4:c.G563A:p.R188Q	ENSG00000189367.14,ENSG00000255330.9,ENST00000481848.6,ENST00000368281.1,ENST00000483725.7,ENST00000473298.6,ENST00000487331.2	.	6q22.33	.	.	.	.	.	rs75605019	.	.	0.00498339	0.005	0.000998403	.	0.00041891	274522	0.00291499	18868	0.00388651	0.00088183	.	-1.3425	.	0.245,T	0.012,B	0.196,B	0.972076,D	0.939392,N	0.675,N	0.72,T	17.9118	-1.460	-0.454	1.949650,15.90	.	0.00649447030921	VDB=0.0627974;SGB=-0.693079;RPB=0.770507;MQB=1.77578e-10;MQSB=0.955213;BQB=0.979768;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=86;DP4=28,4,27,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/1:61:254,0,255:32,29	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000189367-KIAA0408/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 18.3	centrosome; cytoplasm	.	.
H	6	132168996	.	G	GGTGT	220	PASS	ENPP1	Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)	splicing	NM_006208	NM_006208:exon2:c.313+8->GTGT	.	.	ENSG00000197594.11,ENST00000360971.6,ENST00000513998.5,ENST00000486853.1	.	6q23.2	.	.	.	.	.	.	.	.	.	.	.	.	0.04301583	27548	0.03496042	1516	0.03965785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097389,4.525	.	.	INDEL;VDB=0.30126;SGB=-0.651104;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=440;DP4=14,39,35,112;IDV=29;IMF=0.5;MinDP=36;AN=18;AC=1	GT:PL:DP:AD	0/0:110,.,.:12:4,.	0/0:.:36:.	0/0:209,.,.:28:10,.	0/0:188,.,.:23:10,.	0/0:177,.,.:20:8,.	0/0:255,.,.:22:0,.	0/0:209,.,.:26:8,.	0/0:255,.,.:34:4,.	0/3:255,.,.,.,.,.,0,.,.,78:35:9,.,.,22	GGT	GGTGT,G,GGTGTGT	0	1	Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial	.	.	.	14671192|16968801|1351877|2211644|15940697|19206175|15677494|24075184|11739459|15001634|3262656|16609882|8040311|7830788|16607460|11771660|15126519|20137772|20137773|10615944|7830796|16025115|14988267|19380683|10453738|22209248|9662402|10480624|1647027|15605415|20016754|12881724|11159191|6320193|5419273|3104326	GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_GLUCOSE_IMPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_CELLULAR_CATABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_INORGANIC_ANION_TRANSPORT;GO_NUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_PURINE_RIBONUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_REGULATION_OF_GROWTH;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ANION_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_MAINTENANCE_OF_LOCATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_ANION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_ANION_HOMEOSTASIS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_REGULATION_OF_GLYCOGEN_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_IMMUNE_RESPONSE;GO_MONOVALENT_INORGANIC_ANION_HOMEOSTASIS;GO_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GLUCOSE_TRANSPORT;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_POLYSACCHARIDE_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_BIOMINERAL_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_ION_HOMEOSTASIS;GO_NUCLEOSIDE_TRIPHOSPHATE_CATABOLIC_PROCESS;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_DIVALENT_INORGANIC_ANION_HOMEOSTASIS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_LIPID_STORAGE;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_REGULATION_OF_TRANSPORT;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_LIPID_LOCALIZATION;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_ENDOCYTOSIS;GO_VITAMIN_METABOLIC_PROCESS;GO_CELLULAR_HOMEOSTASIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GLUCOSE_IMPORT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_OSSIFICATION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_VACUOLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_PLASMA_MEMBRANE_REGION;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_MEMBRANE_REGION;GO_VACUOLAR_MEMBRANE	GO_SULFUR_COMPOUND_BINDING;GO_CARBOHYDRATE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_INSULIN_RECEPTOR_BINDING;GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_NUCLEASE_ACTIVITY;GO_POLYSACCHARIDE_BINDING;GO_EXONUCLEASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_CARGO_RECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ZINC_ION_BINDING;GO_RECEPTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_PURINE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RIBOFLAVIN_METABOLISM;KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	Membranous expression in a subset of cells including placental stroma, chondrocytes, exocrine pancreas, renal tubules, thyroid and parathyroid gland.	http://www.proteinatlas.org/ENSG00000197594-ENPP1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 16.2	.	.	BS1
H	6	139094892	rs556560773	CT	C	222	PASS	CCDC28A	Coiled-coil domain-containing 28A	exonic	NM_015439	.	frameshift deletion	CCDC28A:NM_015439:exon1:c.82delT:p.L28fs	ENSG00000024862.17,ENST00000611852.4,ENST00000332797.10	CpG: 41	6q24.1	.	.	Score=931;Name=V$CREBP1_01	.	.	rs556560773	.	.	0.00830565	0.0089	0.00599042	0.0069	0.00166949	273138	0.00456621	18834	0.00311042	0.00176056	.	.	.	.	.	.	.	.	.	.	.	.	.	3.262008,16.94	.	.	INDEL;VDB=0.356614;SGB=-0.693147;MQSB=0.958007;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=327;DP4=73,60,69,57;IDV=81;IMF=0.509434;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/1:130:255,0,255:73,57	0/1:129:255,0,255:60,69	CT	C	0	2	Coiled-coil domain-containing 28A, 615353	.	.	.	22058212|16028218	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000024862-CCDC28A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 47.6	cytoplasm	.	.
L	6	144507797	rs748054509	G	A	222	PASS	STX11	Syntaxin-11	exonic	NM_003764	.	synonymous SNV	STX11:NM_003764:exon2:c.G33A:p.L11L	ENSG00000135604.9,ENST00000367568.4	.	6q24.2	.	.	.	.	.	rs748054509	.	.	.	.	.	.	0.00003248	277098	0.00047710	18864	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.175	-0.177	.	.	.	VDB=0.472147;SGB=-0.693147;RPB=0.97209;MQB=3.05257e-19;MQSB=0.338219;BQB=0.932234;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=175;DP4=55,9,45,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/1:123:255,0,255:64,59	G	A	0	1	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive	.	.	.	9553086|24459464|16582076|9571206|10036234|16180048|16278825|15703195	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_VESICLE_LOCALIZATION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_SECRETION_BY_CELL;GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MEMBRANE_FUSION;GO_CELL_CELL_SIGNALING;GO_NEUROTRANSMITTER_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_MEMBRANE_DOCKING;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_VESICLE_FUSION_TO_PLASMA_MEMBRANE;GO_ORGANELLE_MEMBRANE_FUSION;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYNAPTIC_SIGNALING;GO_PLASMA_MEMBRANE_FUSION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_EXOCYTOSIS;GO_VESICLE_DOCKING;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_ORGANELLE_FUSION;GO_CYTOSOLIC_TRANSPORT	GO_EXOCYTIC_VESICLE;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_SNARE_COMPLEX;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PRESYNAPSE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_SYNAPSE_PART	GO_SNAP_RECEPTOR_ACTIVITY;GO_SNARE_BINDING	KEGG_SNARE_INTERACTIONS_IN_VESICULAR_TRANSPORT	.	.	REACTOME_BOTULINUM_NEUROTOXICITY;REACTOME_PROTEOLYTIC_CLEAVAGE_OF_SNARE_COMPLEX_PROTEINS;REACTOME_NEURONAL_SYSTEM	Most normal tissues showed weak to moderate positivity. Breast, trophoblasts, prostate, hematopoietic cells and respiratory epithelial showed strong staining.	http://www.proteinatlas.org/ENSG00000135604-STX11/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 20.4	.	.	BP7, PM2
H	6	150209805	.	T	TAAAAA	41.3372	PASS	RAET1E	.	splicing	NM_001243325,NM_139165	NM_001243325:exon4:c.515-2->TTTTT;NM_139165:exon4:c.623-2->TTTTT	.	.	ENST00000392270.3,ENSG00000223701.3,ENSG00000268592.3,ENST00000606915.1,ENST00000605899.1,ENST00000357183.8,ENST00000367363.3,ENST00000532335.5,ENSG00000164520.11	.	6q25.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00938673	12784	.	.	0.02139245	0.02821869	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.204715,3.007	.	.	INDEL;VDB=0.115223;SGB=-0.636426;MQSB=0.62023;MQ0F=0;MQ=45;DP=93;DP4=0,1,12,17;IDV=16;IMF=0.533333;MinDP=10;AN=10;AC=1	GT:PL:DP:AD	0/0:71,.,.:8:1,.	0/0:.:14:.	0/0:88,.,.:11:0,.	0/0:.:10:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	2/3:103,.,.,59,.,41,63,.,.,54:11:0,.,6,3	T	TAAAA,TAAA,TAAAAA	0	1	.	.	.	.	.	GO_IMMUNE_SYSTEM_PROCESS;GO_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_DEFENSE_RESPONSE;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_IMMUNE_RESPONSE;GO_T_CELL_MEDIATED_IMMUNITY;GO_CELL_KILLING;GO_IMMUNE_EFFECTOR_PROCESS	.	GO_ANTIGEN_BINDING;GO_RECEPTOR_BINDING	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Most normal tissues showed moderate to strong cytoplasmic positivity. Additional membranous staining was observed in fallopian tube and prostate. Bile ducts, smooth and skeletal muscle cells were weakly stained.	http://www.proteinatlas.org/ENSG00000164520-RAET1E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 8.7	focal adhesions; cytoplasm	.	.
H	6	150210544	rs201123268	C	T	177	PASS	RAET1E	.	exonic	NM_001243325,NM_001243327,NM_001243328,NM_139165	.	missense SNV	RAET1E:NM_001243325:exon3:c.G454A:p.D152N,RAET1E:NM_001243327:exon3:c.G562A:p.D188N,RAET1E:NM_139165:exon3:c.G562A:p.D188N,RAET1E:NM_001243328:exon4:c.G562A:p.D188N	ENSG00000223701.3,ENST00000529948.1,ENSG00000268592.3,ENSG00000164520.11,ENST00000367363.3,ENST00000532335.5,ENST00000606915.1,ENST00000357183.8,ENST00000392270.3,ENST00000605899.1	.	6q25.1	.	.	.	.	.	rs201123268	.	.	0	0.001	0.000199681	.	0.00010101	277202	0.00148384	18870	0.00369219	0.00264085	.	-0.2391	MHC class I-like antigen recognition;MHC classes I/II-like antigen recognition protein;NKG2D ligand, RAE-1	0.01,D	1.0,D	1.0,D	1,N	0.004652,N	3.005,M	-0.37,T	7.3374	1.180	0.581	4.364489,24.1	2.93	0.0213736834708	VDB=0.567252;SGB=-0.69311;RPB=0.864833;MQB=0.000121292;MQSB=1;BQB=0.999477;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=68;DP4=16,1,31,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:48:210,0,225:17,31	C	T	0	1	.	.	.	.	.	GO_IMMUNE_SYSTEM_PROCESS;GO_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_DEFENSE_RESPONSE;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_IMMUNE_RESPONSE;GO_T_CELL_MEDIATED_IMMUNITY;GO_CELL_KILLING;GO_IMMUNE_EFFECTOR_PROCESS	.	GO_ANTIGEN_BINDING;GO_RECEPTOR_BINDING	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Most normal tissues showed moderate to strong cytoplasmic positivity. Additional membranous staining was observed in fallopian tube and prostate. Bile ducts, smooth and skeletal muscle cells were weakly stained.	http://www.proteinatlas.org/ENSG00000164520-RAET1E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 8.7	focal adhesions; cytoplasm	.	PM1, PM2
L	6	150238109	rs760903838	A	G	222	PASS	RAET1G	.	exonic	NM_001001788	.	missense SNV	RAET1G:NM_001001788:exon5:c.T944C:p.L315S	ENSG00000223701.3,ENSG00000268592.3,ENST00000446954.2,ENST00000367360.6,ENST00000606915.1,ENSG00000203722.7,ENST00000605899.1,ENST00000367361.6	.	6q25.1	.	.	.	Score=0.905759;Name=chr6:150337462	Score=5852;Name="4140900:LTR13_(LTR)"	rs760903838	.	.	.	.	.	.	0.00009617	176778	0.00143605	11838	0.00388651	0.00352113	.	.	.	0.0,D	0.587,P	0.824,P	1,N	.	0,N	5.25,T	.	0.175	0.220	2.541226,19.73	.	0.00649070741125	VDB=0.726801;SGB=-0.693127;RPB=0.969749;MQB=4.50876e-12;MQSB=0.983606;BQB=0.823839;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=95;DP4=32,6,29,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:48:.:.	0/1:71:255,0,255:38,33	A	G	0	1	.	.	.	.	.	GO_IMMUNE_SYSTEM_PROCESS;GO_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_DEFENSE_RESPONSE;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_INNATE_IMMUNE_RESPONSE;GO_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_IMMUNE_RESPONSE;GO_CELL_KILLING;GO_IMMUNE_EFFECTOR_PROCESS	GO_ENDOPLASMIC_RETICULUM;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_ANTIGEN_BINDING;GO_RECEPTOR_BINDING	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	.	.	http://www.proteinatlas.org/ENSG00000203722-RAET1G/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 1.2	vesicles	.	PM2
L	6	151358223	rs138547580	C	T	222	PASS	MTHFD1L	Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent	exonic	NM_001242767,NM_001242768,NM_001350486,NM_001350487,NM_001350490,NM_001350492,NM_001350493,NM_015440	.	synonymous SNV	MTHFD1L:NM_001350490:exon8:c.C693T:p.G231G,MTHFD1L:NM_001242767:exon26:c.C2820T:p.G940G,MTHFD1L:NM_001242768:exon26:c.C2622T:p.G874G,MTHFD1L:NM_001350486:exon26:c.C2619T:p.G873G,MTHFD1L:NM_001350487:exon26:c.C2487T:p.G829G,MTHFD1L:NM_001350492:exon26:c.C2490T:p.G830G,MTHFD1L:NM_001350493:exon26:c.C2490T:p.G830G,MTHFD1L:NM_015440:exon26:c.C2817T:p.G939G	ENSG00000120254.15,ENST00000453602.1,ENST00000618312.4,ENST00000611279.4,ENST00000367321.7,ENST00000450635.1	.	6q25.1	.	.	Score=858;Name=V$COUP_01	Score=0.942439;Name=chr9:69652823	.	rs138547580	.	.	0.0182724	0.0258	0.0131789	0.0097	0.00489056	276860	0.02665889	18868	0.01442495	0.01672535	.	-0.7147	.	.	.	.	.	.	.	.	.	-0.696	-2.381	2.084693,16.75	.	.	VDB=0.209748;SGB=-0.688148;RPB=0.947838;MQB=0.0139087;MQSB=0.179024;BQB=0.988401;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=105;DP4=14,27,22,19;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/1:29:255,0,255:14,15	0/0:30:.:.	0/0:48:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:53:255,0,255:27,26	C	T	0	2	Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent, 611427	.	.	.	15611115|23267094|12937168|15013446	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_ALPHA_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_TISSUE_MORPHOGENESIS;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_NEURAL_TUBE_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_DICARBOXYLIC_ACID_METABOLIC_PROCESS;GO_EMBRYONIC_VISCEROCRANIUM_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_PTERIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_FOLIC_ACID_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PTERIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_CELLULAR_MODIFIED_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_TETRAHYDROFOLATE_METABOLIC_PROCESS;GO_ORGAN_MORPHOGENESIS;GO_ONE_CARBON_METABOLIC_PROCESS;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_TUBE_DEVELOPMENT;GO_OXIDATION_REDUCTION_PROCESS;GO_COENZYME_BIOSYNTHETIC_PROCESS;GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_TUBE_FORMATION;GO_COENZYME_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_TETRAHYDROFOLATE_INTERCONVERSION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_TUBE_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_FOLIC_ACID_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_VITAMIN_METABOLIC_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_FOLIC_ACID_METABOLIC_PROCESS;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_TISSUE_DEVELOPMENT;GO_COFACTOR_BIOSYNTHETIC_PROCESS;GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;GO_OXIDOREDUCTASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;GO_LIGASE_ACTIVITY	KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000120254-MTHFD1L/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 12.2	.	.	BP7
L	6	151670057	rs150800093	G	A	222	PASS	AKAP12	.	exonic	NM_005100,NM_144497	.	synonymous SNV	AKAP12:NM_144497:exon2:c.G237A:p.K79K,AKAP12:NM_005100:exon4:c.G531A:p.K177K	ENST00000490177.1,ENSG00000131016.16,ENST00000402676.6,ENST00000354675.10,ENST00000359755.5,ENST00000253332.5	.	6q25.1	.	.	Score=919;Name=V$FOXD3_01	.	.	rs150800093	.	.	0.0365449	0.0337	0.0071885	.	0.00290782	277184	0.04102184	18868	0.03808784	0.03873239	.	0.2037	.	.	.	.	.	.	.	.	.	1.397	1.249	1.636984,14.05	3.57	.	VDB=0.643938;SGB=-0.686358;RPB=0.968615;MQB=0.000815988;MQSB=0.862271;BQB=0.333702;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=108;DP4=30,10,35,9;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:51:.:.	0/0:30:.:.	0/0:52:.:.	0/0:50:.:.	0/1:35:204,0,255:21,14	0/0:30:.:.	0/0:50:.:.	0/1:49:255,0,255:19,30	G	A	0	2	.	.	.	.	.	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_KINASE_A_SIGNALING;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_KINASE_C_SIGNALING;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	GO_CYTOPLASMIC_REGION;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION;GO_CELL_CORTEX	GO_PROTEIN_KINASE_A_BINDING;GO_ENZYME_BINDING	.	.	.	.	A vast majority of cytoplasmic expression in endothelial cells and connective tissue.	http://www.proteinatlas.org/ENSG00000131016-AKAP12/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 98.4	plasma membrane; cytoplasm	.	BS1
L	6	158454679	rs141832629	C	T	222	PASS	SYNJ2	Synaptojanin 2	exonic	NM_003898	.	synonymous SNV	SYNJ2:NM_003898:exon4:c.C678T:p.D226D	ENST00000638626.1,ENST00000640338.1,ENST00000355585.8,ENSG00000078269.14,ENST00000485863.1	.	6q25.3	.	.	.	.	.	rs141832629	.	.	0.00664452	0.0069	0.00159744	.	0.00021475	274732	0.00265139	18858	0.00155461	0.00088028	.	-0.0597	.	.	.	.	.	.	.	.	.	2.837	-0.643	.	.	.	VDB=0.684703;SGB=-0.693147;RPB=0.544003;MQB=1.20184e-24;MQSB=0.851522;BQB=0.952148;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=246;DP4=62,39,56,31;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/1:188:255,0,255:101,87	C	T	0	1	Synaptojanin 2, 609410	.	.	.	15548694|11084340|9205841|9388224|10357812|11498538|9636665|14562116	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_DEPHOSPHORYLATION	GO_NEURON_PART;GO_AXON;GO_CYTOSKELETON;GO_NEURON_PROJECTION;GO_MEMBRANE_MICRODOMAIN;GO_CELL_PROJECTION;GO_MEMBRANE_REGION	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_5_BISPHOSPHATE_3_PHOSPHATASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_MONOPHOSPHATE_PHOSPHATASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_5_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_RNA_BINDING	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	BIOCARTA_NDKDYNAMIN_PATHWAY	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000078269-SYNJ2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 15.6	nucleoli; cytoskeleton (microtubules)	.	BP7
L	6	168479769	rs200628563	C	T	222	PASS	FRMD1	.	exonic	NM_024919	.	synonymous SNV	FRMD1:NM_024919:exon1:c.G6A:p.A2A	ENST00000509157.5,ENST00000358587.5,ENST00000511714.2,ENST00000468647.5,ENST00000283309.10,ENSG00000153303.16	CpG: 19	6q27	.	.	.	.	.	rs200628563	.	.	0.00166113	0.005	0.000998403	.	0.00008951	234600	0.00088506	16948	0.00136028	.	.	.	.	.	.	.	.	.	.	.	.	-0.395	-0.408	1.243602,11.98	.	.	VDB=1.86522e-05;SGB=-0.693147;RPB=0.784243;MQB=1.33441e-14;MQSB=0.82258;BQB=0.83512;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=189;DP4=30,39,32,38;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:106:.:.	0/0:127:.:.	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:139:255,0,255:69,70	C	T	0	1	.	.	.	.	.	.	GO_CYTOSKELETON	.	.	.	.	.	Ubiquitous cytoplasmic expression at variable levels.	http://www.proteinatlas.org/ENSG00000153303-FRMD1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	rectum: 2.6	cytoskeleton (actin filaments)	.	BP7
L	6	170855221	rs139264881	C	T	222	PASS	PSMB1	Proteasome subunit, beta type, 1	exonic	NM_002793	.	synonymous SNV	PSMB1:NM_002793:exon3:c.G273A:p.T91T	ENST00000262193.6,ENST00000462957.1,ENSG00000008018.8	.	6q27	.	.	.	.	.	rs139264881	.	.	0.00996678	0.0089	0.00199681	0.0002	0.00065020	276838	0.00784646	18862	0.00602410	0.00352734	.	-0.5026	.	.	.	.	.	.	.	.	.	-0.209	-1.289	2.464338,19.24	.	.	VDB=0.448773;SGB=-0.692352;RPB=0.599004;MQB=2.88883e-06;MQSB=0.0816071;BQB=0.892142;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=63;DP4=22,2,13,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:29:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:45:255,0,255:24,21	C	T	0	1	Proteasome subunit, beta type, 1, 602017	.	.	.	7558012|7966316|9286694	GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_REGULATION_OF_RNA_STABILITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_LIGASE_ACTIVITY;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_AMINE_METABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE_ACTIVATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_FC_EPSILON_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_PROTEIN_POLYUBIQUITINATION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LIGASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE;GO_NIK_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_EXOGENOUS_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_CYTOKINE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	GO_PROTEASOME_COMPLEX	GO_PEPTIDASE_ACTIVITY;GO_THREONINE_TYPE_PEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_PROTEASOME	.	BIOCARTA_PROTEASOME_PATHWAY	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	Cytoplasmic and nuclear expression in all tissues with highest levels in glandular epithelia.	http://www.proteinatlas.org/ENSG00000008018-PSMB1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 161.6	nucleus; cytoplasm; cytoskeleton (intermediate filaments)	.	BP7
L	6	170871046	rs752404282	ACAGCAGCAG	A	228	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_171del:p.55_57del,TBP:NM_003194:exon3:c.223_231del:p.75_77del	ENST00000540980.5,ENST00000421512.5,ENSG00000112592.13,ENST00000423353.1,ENST00000616883.4,ENST00000636632.1,ENST00000392092.6,ENST00000230354.10	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	rs752404282	.	.	.	.	.	.	0.00817385	176294	0.01699687	9590	0.60689496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144695,4.778	.	.	INDEL;VDB=5.48981e-07;SGB=-0.692067;MQSB=0.892142;MQ0F=0;MQ=47;ICB=1;HOB=0.5;DP=448;DP4=4,2,89,41;IDV=38;IMF=0.575758;AN=14;AC=8	GT:PL:DP:AD	./.:.:.:.	1/2:237,119,108,137,.,130,.,.,.,.,.,.,.,.,.:22:2,11,9,.,.	3/1:255,200,179,.,.,.,134,.,.,110,.,.,.,.,.:16:0,7,.,8,.	1/1:255,76,0,.,.,.,.,.,.,.,.,.,.,.,.:36:1,35,.,.,.	0/0:161,.,.:11:3,.	1/2:255,192,168,201,.,171,.,.,.,.,.,.,.,.,.:19:0,8,10,.,.	./.:.:.:.	1/4:255,98,50,.,.,.,.,.,.,.,223,.,.,.,214:24:0,16,.,.,3	1/1:161,24,0,.,.,.,.,.,.,.,.,.,.,.,.:8:0,8,.,.,.	ACAGCAGCAGCAG	ACAG,ACAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,A	2	4	{Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant	.	.	.	14985389|18043721|8503450|12150996|7959752|9399691|12660736|2194289|10484774|12411709|11448935|1436073|2363050|1870994|7959796|7698028|8886170|7873754|19643914|15521976|12805114|17033685|14755733|11252172|11125147|14756671|11313753	GO_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SEXUAL_REPRODUCTION;GO_NCRNA_TRANSCRIPTION;GO_TRANSCRIPTION_ELONGATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NCRNA_METABOLIC_PROCESS;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_GAMETE_GENERATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_I_PROMOTER;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_SNRNA_METABOLIC_PROCESS;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC	GO_CHROMOSOME;GO_TRANSCRIPTION_FACTOR_TFIID_COMPLEX;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_RNA_POLYMERASE_COMPLEX;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_PRONUCLEUS;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_EUCHROMATIN;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX;GO_EUCHROMATIN;GO_DNA_DIRECTED_RNA_POLYMERASE_II_HOLOENZYME	GO_CORE_PROMOTER_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_RNA_POLYMERASE_II_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESS_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	General nuclear expression.	http://www.proteinatlas.org/ENSG00000112592-TBP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 32.3	nucleus but not nucleoli	.	BP3
H*	7	195601	rs200962622	C	T	222	PASS	FAM20C	Family with sequence similarity 20, member C	exonic	NM_020223	.	missense SNV	FAM20C:NM_020223:exon2:c.C653T:p.A218V	ENSG00000177706.8,ENST00000477004.1,ENST00000313766.5	CpG: 35	7p22.3	.	.	.	.	.	rs200962622	.	.	0	0.004	0.000798722	.	0.00025965	269596	0.00350780	17960	0.00136028	0.00088028	.	-0.8456	.	0.518,T	0.003,B	0.059,B	1,N	0.982339,N	0.22,N	-0.88,T	6.7385	-0.052	0.971	0.988441,10.60	.	0.021665239758	VDB=0.133014;SGB=-0.693147;RPB=0.907333;MQB=2.63663e-19;MQSB=0.413736;BQB=0.539757;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=190;DP4=60,12,45,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/1:132:255,0,255:72,60	C	T	0	1	Raine syndrome, 259775 (3), Autosomal recessive	.	.	.	12868469|20825432|17369251|14564151|2020859|15676076|17924334|19250384|22582013|22732358	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_EPITHELIUM_DEVELOPMENT;GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_CELL_DEVELOPMENT;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_BONE_CELL_DEVELOPMENT;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_TOOTH_MINERALIZATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_ENAMEL_MINERALIZATION;GO_BONE_DEVELOPMENT;GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_CELL_MATURATION;GO_POSITIVE_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_AMELOGENESIS;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_BIOMINERAL_TISSUE_DEVELOPMENT;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_NEUROEPITHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_MYELOID_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_PHOSPHORYLATION;GO_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_DEVELOPMENTAL_MATURATION;GO_TISSUE_DEVELOPMENT;GO_ODONTOGENESIS;GO_REGULATION_OF_OSSIFICATION;GO_POSITIVE_REGULATION_OF_OSSIFICATION	GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS	GO_PROTEIN_KINASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_KINASE_ACTIVITY;GO_MANGANESE_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Most of the normal tissues were weakly stained or negative. Heart and skeletal muscles showed strong cytoplasmic immunoreactivity. Moderate positivity, often with a granular pattern, was observed in stomach, hepatocytes of liver, adrenal gland, urinary bladder and neuronal cells of CNS.	http://www.proteinatlas.org/ENSG00000177706-FAM20C/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 41.7	nucleus but not nucleoli; cytoplasm; golgi apparatus	.	PM2
H	7	1037382	rs200169409	GC	G	222	PASS	C7orf50	.	exonic	NM_001134395,NM_001134396,NM_001318252,NM_001350968,NM_001350969,NM_032350	.	frameshift deletion	C7orf50:NM_001134395:exon5:c.463delG:p.A155fs,C7orf50:NM_001134396:exon5:c.463delG:p.A155fs,C7orf50:NM_001318252:exon5:c.463delG:p.A155fs,C7orf50:NM_001350968:exon5:c.463delG:p.A155fs,C7orf50:NM_001350969:exon5:c.421delG:p.A141fs,C7orf50:NM_032350:exon5:c.463delG:p.A155fs	ENST00000488073.1,ENSG00000146540.14,ENST00000444428.5,ENST00000412051.5,ENST00000397100.6,ENST00000397098.7,ENST00000357429.10,ENST00000491163.1	.	7p22.3	.	.	.	.	.	rs200169409	.	.	0.0116279	0.0089	0.00898562	0.0185	0.01789417	271988	0.00766325	18530	0.01302488	0.00883392	.	.	.	.	.	.	.	.	.	.	.	.	.	2.730035,15.09	.	.	INDEL;VDB=0.0916082;SGB=-0.693147;MQSB=0.980117;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=127;DP4=34,13,34,17;IDV=59;IMF=0.464567;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:98:255,0,255:47,51	GC	G	0	1	.	.	.	.	.	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic and nuclear staining.	http://www.proteinatlas.org/ENSG00000146540-C7orf50/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 30.6	nucleus; nucleoli	.	.
L	7	1517559	rs181565114	C	T	222	PASS	INTS1	Integrator complex subunit 1	exonic	NM_001080453	.	synonymous SNV	INTS1:NM_001080453:exon34:c.G4644A:p.L1548L	ENSG00000164880.15,ENST00000404767.7	.	7p22.3	.	.	.	.	.	rs181565114	.	.	0.0149502	0.0119	0.00239617	.	0.00139596	275080	0.01998087	18818	0.01788491	0.01598579	.	-0.2643	.	.	.	.	.	.	.	.	.	0.317	0.680	.	.	.	VDB=0.125842;SGB=-0.693147;RPB=0.897038;MQB=1.72098e-16;MQSB=0.845711;BQB=0.312532;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=142;DP4=32,30,29,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:58:.:.	0/0:64:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:118:255,0,255:62,56	C	T	0	1	Integrator complex subunit 1, 611345	.	.	.	16239144|10718198	GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NCRNA_PROCESSING;GO_NCRNA_TRANSCRIPTION;GO_NCRNA_METABOLIC_PROCESS;GO_SNRNA_PROCESSING;GO_SNRNA_METABOLIC_PROCESS	GO_NUCLEAR_ENVELOPE;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_RNA_POLYMERASE_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_DNA_DIRECTED_RNA_POLYMERASE_II_HOLOENZYME;GO_INTEGRATOR_COMPLEX;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE	.	.	.	.	.	Moderate cytoplasmic positivity was observed in most normal tissues. Exocrine pancreas, thyroid gland and placenta showed strong cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000164880-INTS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 29.2	nucleus but not nucleoli	.	BP7
H	7	1586706	rs199763226	G	A	222	PASS	TMEM184A	.	exonic	NM_001097620	.	missense SNV	TMEM184A:NM_001097620:exon9:c.C1124T:p.T375M	ENST00000468535.5,ENST00000319018.12,ENST00000297477.9,ENSG00000164855.15	.	7p22.3	.	.	.	.	.	rs199763226	.	.	0.00830565	0.0079	0.00199681	0.0002	0.00098991	270732	0.01236542	18762	0.01127527	0.00976909	.	.	.	0.003,D	0.991,D	1.0,D	1,D	0.000000,U	2.125,M	1.3,T	14.1862	1.313	6.438	4.057261,23.7	4.59	.	VDB=0.301722;SGB=-0.693021;RPB=0.390076;MQB=1.70403e-07;MQSB=0.985291;BQB=0.688522;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=94;DP4=23,11,22,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:47:.:.	0/0:31:.:.	0/0:31:.:.	0/1:61:255,0,255:34,27	G	A	0	1	.	.	.	.	.	.	GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_EARLY_ENDOSOME_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_VACUOLAR_PART;GO_SECRETORY_GRANULE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOSOMAL_PART;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Subset of cells in renal tubules, seminal vesicles and lymphoid tissue showed moderate to strong cytoplasmic staining with additional nuclear positivity in stomach. Inflammatory cells were distinctly stained. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000164855-TMEM184A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	duodenum: 16.7	nucleus but not nucleoli	.	PP3
L	7	2578843	rs200084998	G	A	158	PASS	BRAT1	BRCA1-associated ATM activator 1	exonic	NM_001350626,NM_001350627,NM_152743	.	synonymous SNV	BRAT1:NM_001350627:exon12:c.C1215T:p.P405P,BRAT1:NM_001350626:exon13:c.C1740T:p.P580P,BRAT1:NM_152743:exon13:c.C1740T:p.P580P	ENSG00000106009.15,ENST00000493232.5,ENST00000473879.1,ENST00000467558.5,ENST00000340611.8,ENST00000469750.5	.	7p22.3	.	.	.	.	.	rs200084998	.	.	0.00498339	0.004	0.000798722	.	0.00019240	270276	0.00261305	18752	0.00272162	0.00442478	.	0.6895	.	.	.	.	.	.	.	.	.	-0.185	-0.455	.	.	.	VDB=0.144271;SGB=-0.662043;RPB=0.994996;MQB=0.00150093;MQSB=0.985612;BQB=0.980133;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=26;DP4=11,2,7,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:22:191,0,233:13,9	G	A	0	1	Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive	.	.	.	16452482|22279524|25319849|23035047|25500575	GO_RESPONSE_TO_IONIZING_RADIATION;GO_CELL_DEATH;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_RESPONSE_TO_RADIATION;GO_LOCOMOTION;GO_GROWTH;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLUCOSE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_MITOCHONDRION_LOCALIZATION;GO_HEXOSE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_GROWTH	.	.	.	.	.	.	Weak to moderate cytoplasmic staining often combined with nuclear positivity was observed in normal tissues. Renal glomeruli and endothelial cells displayed strong membranous and cytoplasmic staining. Glial cells and most lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000106009-BRAT1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 10.7	.	.	BP7, PM2
L	7	4008956	rs147945522	A	G	222	PASS	SDK1	Sidekick, Drosophila, homolog of, 1	exonic	NM_152744	.	synonymous SNV	SDK1:NM_152744:exon11:c.A1614G:p.L538L	ENST00000404826.6,ENSG00000146555.18,ENST00000615806.4,ENST00000389531.7	.	7p22.2	.	.	Score=763;Name=V$MEF2_01	.	.	rs147945522	.	.	0.0116279	0.0139	0.00279553	7.7e-05	0.00133878	274878	0.01847514	18782	0.01787796	0.02464789	.	-0.4666	.	.	.	.	.	.	.	.	.	-0.323	0.084	.	.	.	VDB=0.060118;SGB=-0.693147;RPB=0.938726;MQB=1.14145e-19;MQSB=0.891984;BQB=0.976135;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=290;DP4=75,33,71,39;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:125:255,0,255:61,64	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:93:255,0,255:47,46	A	G	0	2	Sidekick, Drosophila, homolog of, 1, 607216	.	.	.	18216854|12230981	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_SINGLE_ORGANISM_BEHAVIOR;GO_SYNAPSE_ORGANIZATION;GO_RESPONSE_TO_COCAINE;GO_ADULT_BEHAVIOR;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURAL_RETINA_DEVELOPMENT;GO_CELL_CELL_ADHESION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_ALKALOID;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEUROGENESIS;GO_RETINA_LAYER_FORMATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_BEHAVIORAL_RESPONSE_TO_COCAINE;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BEHAVIOR;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_SYNAPSE_ASSEMBLY;GO_EYE_MORPHOGENESIS	GO_CELL_JUNCTION;GO_SYNAPSE	GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	Most normal tissues displayed moderate cytoplasmic positivity. Strong cytoplasmic staining was observed in neuronal cells of cerebral cortex.	http://www.proteinatlas.org/ENSG00000146555-SDK1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 4.0	cytoplasm	.	BP7
L	7	6082605	rs200281427	C	T	222	PASS	EIF2AK1	Eukaryotic translation initiation factor 2-alpha kinase 1	exonic	NM_001134335,NM_014413	.	synonymous SNV	EIF2AK1:NM_001134335:exon8:c.G747A:p.E249E,EIF2AK1:NM_014413:exon8:c.G750A:p.E250E	ENSG00000086232.12,ENST00000470168.1,ENST00000474029.5,ENST00000495565.5,ENST00000199389.10	.	7p22.1	.	.	.	.	.	rs200281427	.	.	0.00166113	0.001	0.000199681	.	0.00002439	246018	0.00034799	17242	0.00194326	0.00264085	.	1.1687	.	.	.	.	.	.	.	.	.	0.475	0.361	1.201373,11.75	2.88	.	VDB=0.370176;SGB=-0.686358;RPB=0.271496;MQB=0.000116973;MQSB=0.697676;BQB=0.980899;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=40;DP4=11,4,9,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:29:255,0,255:15,14	C	T	0	1	Eukaryotic translation initiation factor 2-alpha kinase 1, 613635	.	.	.	20071449|11101152|17932563|12391722|19133234	GO_REGULATION_OF_TRANSLATION_IN_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_COFACTOR_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_LEUKOCYTE_DIFFERENTIATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSLATIONAL_INITIATION;GO_DEFENSE_RESPONSE;GO_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_TRANSITION_METAL_ION_HOMEOSTASIS;GO_ACUTE_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_TETRAPYRROLE_METABOLIC_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROPHAGE_DIFFERENTIATION;GO_REGULATION_OF_TRANSLATIONAL_INITIATION_IN_RESPONSE_TO_STRESS;GO_REGULATION_OF_TRANSLATIONAL_INITIATION;GO_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MYELOID_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_ENDOCYTOSIS;GO_PHAGOCYTOSIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_IRON_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	.	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_KINASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_TETRAPYRROLE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	BIOCARTA_EIF2_PATHWAY	.	Mainly cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000086232-EIF2AK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 48.8	nucleus; cytoplasm	.	PM2
H	7	6579342	rs572705813	G	A	69	PASS	GRID2IP	.	splicing	NM_001145118	NM_001145118:exon2:c.584+7C>T	.	.	ENST00000457091.2,ENSG00000215045.8	.	7p22.1	.	.	.	.	.	rs572705813	.	.	0.00166113	0.001	0.000199681	.	0.00076757	174576	0.00026187	11456	0.00278087	0.00264085	0.0002,0.018	-0.0776	.	.	.	.	.	.	.	.	.	0.421	-0.883	.	.	.	VDB=0.803107;SGB=-0.556411;RPB=0.62023;MQB=0.124046;MQSB=1;BQB=0.868321;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=9;DP4=3,1,4,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/1:8:102,0,107:4,4	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_REGULATION_OF_SYNAPTIC_PLASTICITY;GO_LONG_TERM_SYNAPTIC_DEPRESSION;GO_NEGATIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_NEURON_PART;GO_POSTSYNAPSE;GO_NEURON_SPINE;GO_CELL_JUNCTION;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000215045-GRID2IP/tissue	FPKM<0.5 in all tissues <Not detected>	prostate: 0.3	.	.	PM2
M	7	6639708	rs764165680	G	A	222	PASS	C7orf26	.	exonic	NM_024067	.	missense SNV	C7orf26:NM_024067:exon4:c.G829A:p.V277M	ENSG00000146576.12,ENST00000445375.5,ENST00000344417.9,ENST00000477298.1,ENST00000359073.9,ENST00000472693.1	.	7p22.1	.	.	.	.	.	rs764165680	.	.	.	.	.	.	0.00007575	277212	0.00042400	18868	0.00038865	0.00088028	.	-0.0592	.	0.15,T	0.0,B	0.0,B	1,N	0.145361,N	0,N	0.87,T	4.2174	-0.303	0.116	.	.	0.0394940344422	VDB=0.503879;SGB=-0.693147;RPB=0.999531;MQB=8.77779e-19;MQSB=0.220524;BQB=0.848234;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=177;DP4=60,14,49,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:142:255,0,255:74,68	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues exhibited weak to moderate cytoplasmic and nuclear staining. Hepatocytes, renal tubules, uterine glandular cells and stomach displayed strong cytoplasmic positivity. Glial cells, bile duct cells, renal glomeruli and most mesenchymal cells were negative.	http://www.proteinatlas.org/ENSG00000146576-C7orf26/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 17.6	nucleus; nucleoli; cytoplasm; cytoskeleton (intermediate filaments)	.	PM2
H	7	20762786	rs80123476	G	A	222	PASS	ABCB5	ATP-binding cassette, subfamily B, member 5	exonic	NM_001163941,NM_178559	.	missense SNV	ABCB5:NM_178559:exon12:c.G1234A:p.A412T,ABCB5:NM_001163941:exon21:c.G2569A:p.A857T	ENST00000258738.10,ENSG00000004846.16,ENST00000441315.1,ENST00000404938.6	.	7p21.1	.	.	.	.	.	rs80123476	.	.	.	.	.	0.0002	0.00031750	277168	0.00381639	18866	0.00272056	0.00264085	.	-0.2372	ABC transporter type 1, transmembrane domain;ABC transporter-like;P-loop containing nucleoside triphosphate hydrolase	0.049,D	0.002,B	0.001,B	0.999876,N	0.233018,N	0.525,N	-2.56,D	3.1725	0.307	1.464	2.480131,19.34	.	0.0125815749991	VDB=0.321842;SGB=-0.686358;RPB=0.456316;MQB=2.50131e-05;MQSB=0.99951;BQB=0.624232;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=53;DP4=14,9,9,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:37:255,0,255:23,14	G	A	0	1	ATP-binding cassette, subfamily B, member 5, 611785	.	.	.	15760339|15899824|12960149|25030174|18202660	GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_VIA_MHC_CLASS_IB;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_DRUG_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_POSITIVE_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_DRUG_TRANSPORT;GO_RESPONSE_TO_DRUG;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_TRANSMEMBRANE_TRANSPORT;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_ENDOGENOUS_ANTIGEN;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_ENDOGENOUS_PEPTIDE_ANTIGEN	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_DRUG_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	A majority of normal tissues showed weak to moderate cytoplasmic staining often combined with a granular pattern. Strong staining was observed in glandular cells in prostate, endometrium, gall bladder and thyroid glad as well as subsets of renal tubule. Lung alveolar cells and most cells in CNS and lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000004846-ABCB5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	urinary bladder: 0.8	.	.	PM1, PM2
H	7	22190131	rs758012495	GAAA	G	26.9749	PASS	RAPGEF5	.	splicing	NM_012294	.	.	.	ENST00000401957.6,ENST00000620335.4,ENSG00000136237.18,ENST00000344041.10	.	7p15.3	.	.	.	.	.	rs758012495	.	.	.	.	.	.	0.03231164	155950	0.02858246	10356	0.00801407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.123936,13.06	.	.	INDEL;VDB=0.00766672;SGB=-0.692352;MQSB=0.731218;MQ0F=0;MQ=48;DP=36;DP4=0,1,10,11;IDV=31;IMF=0.815789;MinDP=5;AN=10;AC=2	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:10:.:.	./.:.:.:.	0/0:6:.:.	./.:.:.:.	./.:.:.:.	1/1:22:78,41,25:1,7	GAAA	G	1	0	.	.	.	.	.	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_GTP_DEPENDENT_PROTEIN_BINDING	.	.	.	.	Normal tissues generally showed moderate to strong nuclear immunoreactivity. Additional membranous positivity was observed in large intestine and squamous epithelia. Neuronal cells displayed cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000136237-RAPGEF5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 44.4	.	.	BS1
H	7	25175862	rs201712394	A	G	222	PASS	C7orf31	Chromosome 7 open reading frame 31	exonic	NM_138811	.	missense SNV	C7orf31:NM_138811:exon10:c.T1502C:p.L501S	ENST00000409280.5,ENSG00000153790.11,ENST00000283905.7	.	7p15.3	.	.	Score=875;Name=V$IRF1_01	.	.	rs201712394	.	.	0.00498339	0.005	0.000998403	.	0.00034635	277178	0.00508798	18868	0.00544112	0.00352113	.	.	.	0.011,D	0.61,P	0.911,P	0.991146,N	0.615666,N	2.39,M	3.07,T	11.6249	2.158	1.884	3.813426,23.4	4.97	0.0055958047271	VDB=0.542538;SGB=-0.693079;RPB=0.781683;MQB=4.50236e-09;MQSB=0.882366;BQB=0.762196;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=89;DP4=20,22,15,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:71:255,0,255:42,29	A	G	0	1	Chromosome 7 open reading frame 31, 616071	.	.	.	25074808	.	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000153790-C7orf31/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 5.7	nucleus but not nucleoli; mitochondria	.	.
L	7	27168878	.	G	T	181	PASS	HOXA4	Homeo box-A4	exonic	NM_002141	.	missense SNV	HOXA4:NM_002141:exon2:c.C929A:p.P310Q	ENSG00000253552.7,ENST00000317201.6,ENST00000467897.2,ENST00000521159.5,ENST00000518451.1,ENST00000610970.1,ENST00000522788.5,ENST00000428284.2,ENST00000360046.9,ENSG00000273433.1,ENSG00000197576.13,ENSG00000105997.22,ENST00000511914.1,ENST00000521401.1	.	7p15.2	.	.	.	.	Score=241;Name="4272931:G-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186,T	0.004,B	0.008,B	1,D	0.144157,N	1.555,L	-2.35,D	9.9998	1.368	2.320	2.498614,19.46	4.87	0.0487949733721	VDB=0.737168;SGB=-0.680642;RPB=0.38335;MQB=0.00324978;MQSB=0.928571;BQB=0.944319;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=29;DP4=11,0,10,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/1:23:214,0,148:11,12	G	T	0	1	Homeo box-A4, 142953	.	.	.	2574852	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Normal tissues displayed moderate to strong nuclear staining. Additional cytoplasmic positivity was observed in large intestine, fraction of neuronal cells and stomach.	http://www.proteinatlas.org/ENSG00000197576-HOXA4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 12.2	nucleus	.	PM2
H	7	29943929	rs140535643	C	T	198	PASS	WIPF3	WAS/WASL-interacting protein family, member 3	exonic	NM_001080529	.	missense SNV	WIPF3:NM_001080529:exon8:c.C1379T:p.A460V	ENST00000409290.1,ENSG00000122574.10,ENST00000242140.9,ENST00000409123.5	.	7p14.3	.	.	.	.	.	rs140535643	.	.	0.00498339	0.0069	0.00139776	.	0.00023827	276992	0.00333934	18866	0.00699572	0.00704225	.	-1.3871	.	0.0,D	0.206,B	0.886,P	1,N	0.020860,U	2.19,M	0.77,T	13.7579	2.609	3.347	3.922544,23.5	5.04	0.0112983453948	VDB=0.27967;SGB=-0.686358;RPB=0.300035;MQB=2.5833e-05;MQSB=0.99778;BQB=0.913833;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=51;DP4=19,6,11,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:39:231,0,255:25,14	C	T	0	1	WAS/WASL-interacting protein family, member 3, 612432	.	.	.	11553796|8839352|17573773	GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ACTIN_NUCLEATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_FC_GAMMA_RECEPTOR_SIGNALING_PATHWAY;GO_MALE_GAMETE_GENERATION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_ACTIN_NUCLEATION;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_REPRODUCTION;GO_REGULATION_OF_CELL_SHAPE;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ENDOCYTOSIS;GO_PHAGOCYTOSIS;GO_CORTICAL_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_IMMUNE_EFFECTOR_PROCESS	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_ACTIN_FILAMENT	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_SH3_DOMAIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in most cells.	http://www.proteinatlas.org/ENSG00000122574-WIPF3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 9.8	.	.	.
H	7	31862737	rs148019533	G	A	222	PASS	PDE1C	Phosphodiesterase 1C	exonic	NM_001191056,NM_001191057,NM_001191058,NM_001191059,NM_001322055,NM_001322056,NM_001322057,NM_001322058,NM_001322059,NM_005020	.	missense SNV	PDE1C:NM_001191056:exon14:c.C1532T:p.T511M,PDE1C:NM_001191057:exon14:c.C1532T:p.T511M,PDE1C:NM_001191058:exon15:c.C1712T:p.T571M,PDE1C:NM_001191059:exon15:c.C1532T:p.T511M,PDE1C:NM_001322055:exon15:c.C1532T:p.T511M,PDE1C:NM_001322056:exon15:c.C1532T:p.T511M,PDE1C:NM_001322057:exon15:c.C1532T:p.T511M,PDE1C:NM_001322058:exon15:c.C1712T:p.T571M,PDE1C:NM_001322059:exon15:c.C1937T:p.T646M,PDE1C:NM_005020:exon15:c.C1532T:p.T511M	ENST00000396184.7,ENSG00000154678.16,ENST00000321453.11,ENST00000396193.5,ENST00000396182.6,ENST00000396191.5	.	7p14.3	.	.	.	.	.	rs148019533	.	.	0	.	0.000199681	0.0002	0.00007965	276200	0.00037242	18796	.	.	.	-0.2529	-cyclic nucleotide phosphodiesterase, catalytic domain;3&apos;5&apos	0.153,T	0.732,P	0.992,D	0.996928,D	0.274059,N	0.975,L	-0.64,T	14.4606	2.739	6.503	4.804823,24.8	5.79	0.0265680166869	VDB=0.508252;SGB=-0.692976;RPB=0.924225;MQB=5.99887e-05;MQSB=0.115649;BQB=0.653998;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=50;DP4=8,6,22,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:33:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/1:40:255,0,238:14,26	G	A	0	1	Phosphodiesterase 1C, 602987	.	.	.	14586460|8557689|1326532|17726023	.	.	GO_CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY;GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_CALMODULIN_BINDING	KEGG_PURINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000154678-PDE1C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 10.9	nucleus	.	PM1, PM2, PP3
H	7	32919039	rs573729339	G	A	100	PASS	KBTBD2	.	splicing	NM_015483	NM_015483:exon2:c.170+8C>T	.	.	ENSG00000170852.10,ENST00000304056.8,ENST00000621876.1,ENST00000477129.1,ENST00000485611.5	.	7p14.3	.	.	.	.	.	rs573729339	.	.	0.00166113	0.001	0.000199681	.	0.00000430	232536	0.00005980	16722	.	.	0.0004,0.012	0.1884	.	.	.	.	.	.	.	.	.	0.818	0.709	1.281153,12.17	2.76	.	VDB=0.275478;SGB=-0.616816;RPB=0.777113;MQB=0.0102252;BQB=0.470358;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=15;DP4=7,0,6,0;MinDP=5;AN=16;AC=1	GT:DP:PL:AD	./.:.:.:.	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:5:.:.	0/0:11:.:.	0/1:13:133,0,129:7,6	G	A	0	1	.	.	.	.	.	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_UBIQUITINATION	GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic and membranous staining. Lymphoid tissues and bone marrow poetic cells were strongly stained. Airway epithelium and cells in the CNS displayed nuclear positivity.	http://www.proteinatlas.org/ENSG00000170852-KBTBD2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 27.7	nucleus; nucleoli	.	PM2
H	7	33573737	rs146752751	C	T	222	PASS	BBS9	Parathyroid hormone-responsive B1 gene	exonic	NM_001033604,NM_001033605,NM_001348036,NM_001348037,NM_001348038,NM_001348039,NM_001348040,NM_001348041,NM_001348042,NM_001348043,NM_001348044,NM_001348045,NM_001348046,NM_014451,NM_198428	.	missense SNV	BBS9:NM_001348044:exon17:c.C1999T:p.R667C,BBS9:NM_001348046:exon18:c.C2104T:p.R702C,BBS9:NM_001348037:exon19:c.C1921T:p.R641C,BBS9:NM_001348040:exon19:c.C2350T:p.R784C,BBS9:NM_001348045:exon19:c.C2104T:p.R702C,BBS9:NM_014451:exon19:c.C2350T:p.R784C,BBS9:NM_001033604:exon20:c.C2365T:p.R789C,BBS9:NM_001033605:exon20:c.C2455T:p.R819C,BBS9:NM_001348039:exon20:c.C2092T:p.R698C,BBS9:NM_001348042:exon20:c.C2335T:p.R779C,BBS9:NM_001348036:exon21:c.C2470T:p.R824C,BBS9:NM_001348038:exon21:c.C2197T:p.R733C,BBS9:NM_001348041:exon21:c.C2470T:p.R824C,BBS9:NM_001348043:exon21:c.C2470T:p.R824C,BBS9:NM_198428:exon21:c.C2470T:p.R824C	ENST00000498189.1,ENST00000350941.7,ENST00000242067.10,ENST00000434373.3,ENST00000396127.6,ENSG00000122507.20,ENST00000355070.6,ENST00000489708.1,ENST00000433714.5,ENST00000495426.1	.	7p14.3	.	.	.	.	.	rs146752751	.	.	0.0365449	0.0367	0.00738818	0.0003	0.00245291	277222	0.03301887	18868	0.03186941	0.02640845	.	0.0225	PTHB1, C-terminal domain	0.001,D	0.949,D	1.0,D	0.999999,D	0.000001,D	0.695,N	0.05,T	15.1109	2.826	4.253	7.732374,35	5.93	.	VDB=0.0156051;SGB=-0.688148;RPB=0.86931;MQB=1.43984e-06;MQSB=0.4182;BQB=0.905903;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=150;DP4=36,34,14,32;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:50:228,0,255:35,15	0/0:50:.:.	0/1:66:255,0,255:35,31	C	T	0	2	Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive	.	.	.	22353939|10221542|20603001|19081074|17574030|16380913|22072986|12618763	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_CELL_PART_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_PROTEIN_LOCALIZATION_TO_CILIUM;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_CILIUM_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_SYSTEM_PROCESS;GO_FAT_CELL_DIFFERENTIATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_CELL_PROJECTION_MEMBRANE;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CILIARY_TRANSITION_ZONE;GO_NONMOTILE_PRIMARY_CILIUM;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CILIARY_MEMBRANE;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_PERICENTRIOLAR_MATERIAL;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION;GO_CILIUM;GO_CENTRIOLAR_SATELLITE	.	.	.	.	.	Most normal tissues showed moderate to strong cytoplasmic positivity in granular pattern and occasional nuclear positivity.	http://www.proteinatlas.org/ENSG00000122507-BBS9/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 17.3	.	.	BS1, PP3
H	7	36478805	rs370191278	CT	C	206	PASS	ANLN	Actin-binding protein anillin	splicing	NM_001284301,NM_001284302,NM_018685	NM_001284301:exon20:c.2773-7T>-;NM_001284302:exon20:c.2770-7T>-;NM_018685:exon21:c.2884-7T>-	.	.	ENST00000396068.6,ENST00000265748.6,ENST00000457743.1,ENSG00000011426.10,ENST00000428612.5	.	7p14.2	.	.	.	.	.	rs370191278	.	.	0.013289	0.0139	0.00299521	0.0103	0.00072382	261116	0.00925195	17726	0.00758165	0.01760563	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685401,7.663	.	.	INDEL;VDB=0.202095;SGB=-0.692067;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=52;DP4=14,9,10,10;IDV=25;IMF=0.480769;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:28:.:.	0/0:49:.:.	0/0:50:.:.	0/1:43:239,0,255:23,20	CT	C	0	1	Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant	.	.	.	24676636|10931866	GO_MITOTIC_CYTOKINESIS;GO_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_CYTOSKELETON_ORGANIZATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_EXIT_FROM_MITOSIS;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_MOTILITY;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ORGANELLE_FISSION;GO_TISSUE_MIGRATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_ORGANELLE_ASSEMBLY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELL_CYCLE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_CYTOKINESIS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CYTOSKELETON_DEPENDENT_CYTOKINESIS	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_CELL_DIVISION_SITE;GO_CELL_CORTEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING	.	.	.	.	Nuclear expression in most tissues, often in a subset of cells.	http://www.proteinatlas.org/ENSG00000011426-ANLN/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 16.8	nucleus but not nucleoli	.	BS2
L	7	40132778	rs534367980	G	A	222	PASS	CDK13	Cyclin-dependent kinase 13	exonic	NM_003718,NM_031267	.	synonymous SNV	CDK13:NM_003718:exon13:c.G3630A:p.S1210S,CDK13:NM_031267:exon13:c.G3450A:p.S1150S	ENST00000340829.9,ENST00000181839.8,ENST00000465643.1,ENSG00000065883.14	.	7p14.1	.	.	Score=839;Name=V$CDPCR1_01	.	.	rs534367980	.	.	0	0.001	0.000199681	.	0.00006143	244176	0.00058106	17210	0.00038865	.	.	-0.5209	.	.	.	.	.	.	.	.	.	-1.332	-0.340	1.725599,14.55	.	.	VDB=0.571065;SGB=-0.69168;RPB=0.982195;MQB=6.33289e-06;MQSB=0.923961;BQB=0.8564;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=9,16,8,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:49:.:.	0/0:30:.:.	0/0:50:.:.	0/0:33:.:.	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	0/1:44:255,0,255:25,19	G	A	0	1	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant	.	.	.	22012619|1731328|27479907	GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME;GO_MRNA_PROCESSING;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_RNA_PROCESSING;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_MRNA_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_RNA_SPLICING;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_NUCLEAR_SPECK;GO_NUCLEAR_CYCLIN_DEPENDENT_PROTEIN_KINASE_HOLOENZYME_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_NUCLEAR_BODY;GO_PROTEIN_KINASE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_HOLOENZYME_COMPLEX	GO_CYCLIN_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RNA_POLYMERASE_II_CARBOXY_TERMINAL_DOMAIN_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Expression in several tissues.	http://www.proteinatlas.org/ENSG00000065883-CDK13/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 17.4	nucleus but not nucleoli	.	BP7, PM2
L	7	43496014	rs538912476	G	A	222	PASS	HECW1	HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1	exonic	NM_001287059,NM_015052	.	synonymous SNV	HECW1:NM_001287059:exon11:c.G2517A:p.G839G,HECW1:NM_015052:exon13:c.G2619A:p.G873G	ENST00000453890.5,ENST00000395891.6,ENSG00000002746.14	.	7p13	.	.	.	.	.	rs538912476	.	.	0.00332226	0.002	0.000399361	.	0.00011199	276812	0.00164299	18868	0.00038880	0.00088028	.	0.8791	.	.	.	.	.	.	.	.	.	0.133	-0.195	1.312963,12.34	.	.	VDB=0.0647973;SGB=-0.692976;RPB=0.58934;MQB=1.02827e-07;MQSB=0.978598;BQB=0.936425;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=23,6,19,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:47:.:.	0/0:50:.:.	0/1:55:255,0,255:29,26	G	A	0	1	HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1, 610384	.	.	.	14684739|9205841	GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_PROTEIN_UBIQUITINATION;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PROTEOLYSIS	.	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY;GO_LIGASE_ACTIVITY	.	.	.	.	General cytoplasmic and nuclear expression in CNS.	http://www.proteinatlas.org/ENSG00000002746-HECW1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 1.0	.	.	BP7, PM2
L-	7	48311915	rs193268120	A	G	222	PASS	ABCA13	ATP-binding cassette, subfamily A, member 13	exonic	NM_152701	.	synonymous SNV	ABCA13:NM_152701:exon17:c.A2652G:p.S884S	ENSG00000179869.14,ENST00000435803.5,ENST00000417403.5	.	7p12.3	.	.	.	.	.	rs193268120	.	.	0.00664452	0.006	0.00119808	.	0.00035080	276508	0.00503605	18864	0.00505443	0.00176056	.	0.0684	.	.	.	.	.	.	.	.	.	-0.126	-0.304	.	.	.	VDB=0.698697;SGB=-0.69311;RPB=0.993865;MQB=5.7018e-07;MQSB=0.233712;BQB=0.961272;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=19,10,17,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:60:255,0,255:29,31	A	G	0	1	ATP-binding cassette, subfamily A, member 13, 607807	.	.	.	19944402|12697998	GO_ION_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_ANION_TRANSPORT;GO_CHOLESTEROL_EFFLUX;GO_ORGANIC_ANION_TRANSPORT;GO_PHOSPHOLIPID_TRANSPORT;GO_STEROL_TRANSPORT;GO_LIPID_LOCALIZATION;GO_TRANSMEMBRANE_TRANSPORT;GO_PHOSPHOLIPID_EFFLUX	.	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	.	.	http://www.proteinatlas.org/ENSG00000179869-ABCA13/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 1.5	.	.	BP7
L	7	50778696	.	C	T	222	PASS	GRB10	Growth factor receptor-bound protein-10	splicing	NM_001350816	NM_001350816:exon3:UTR5	.	.	ENST00000335866.7,ENST00000402578.5,ENST00000402497.5,ENST00000439044.5,ENST00000357271.9,ENST00000401949.5,ENST00000406641.5,ENST00000407526.5,ENSG00000106070.17,ENST00000398812.6,ENST00000403097.5	.	7p12.1	.	.	.	.	Score=368;Name="4313779:L3(LINE)"	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	0,0	.	.	.	.	.	.	.	.	.	.	0.006	0.083	.	.	.	VDB=0.187944;SGB=-0.693141;RPB=0.982465;MQB=8.44405e-09;MQSB=0.408078;BQB=0.841341;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=14,8,13,24;MinDP=46;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:46:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:59:255,0,255:22,37	C	T	0	1	Growth factor receptor-bound protein-10, 601523	.	.	.	12700169|10861285|12829789|9360986|9006901|21270893|12771153|11112662|11313740|9070953|7479769|11527390|9448292|19487367|7731717|19174477|1849461|10856193|21659605	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_GLUCOSE_IMPORT;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_REGULATION_OF_GLYCOGEN_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GLUCOSE_TRANSPORT;GO_REGULATION_OF_POLYSACCHARIDE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_GLUCOSE_IMPORT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	.	GO_INSULIN_RECEPTOR_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_BINDING_BRIDGING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_SH3_SH2_ADAPTOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_INSULIN_PATHWAY;PID_RET_PATHWAY;PID_IGF1_PATHWAY;PID_PDGFRB_PATHWAY;PID_KIT_PATHWAY;PID_VEGFR1_2_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_SIGNAL_ATTENUATION	Granular cytoplasmic expression in all tissues at variable levels. Highest expression in gastrointestinal tract, leucocytes and neurons.	http://www.proteinatlas.org/ENSG00000106070-GRB10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 26.7	vesicles; nuclear membrane	.	PM2
L	7	64004817	rs777952882	AACACAC	A	222	PASS	ZNF680	.	splicing	NM_001130022,NM_178558	.	.	.	ENST00000309683.10,ENSG00000173041.11,ENST00000476563.1,ENST00000473601.1,ENST00000447137.2	.	7q11.21	.	.	.	.	Score=288;Name="4330432:(CA)n(Simple_repeat)"	rs777952882	.	.	.	.	.	.	0.00744219	228696	0.02049595	15808	0.03944812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.629148,1.213	.	.	INDEL;VDB=0.000447146;SGB=-0.693143;MQSB=1;MQ0F=0;MQ=50;ICB=1;HOB=0.5;DP=1004;DP4=47,88,152,388;IDV=94;IMF=0.712121;AN=18;AC=3	GT:PL:DP:AD	1/2:255,255,166,255,.,255,.,.,.,.:38:0,30,8,.	0/0:255,.,.:94:1,.	1/2:255,255,255,255,.,255,.,.,.,.:89:1,31,17,.	0/0:255,.,.:107:35,.	0/0:255,.,.:83:26,.	0/0:255,.,.:73:24,.	0/0:255,.,.:48:17,.	0/0:255,.,.:71:30,.	1/2:255,255,245,255,.,255,.,.,.,.:72:1,38,12,.	AACACAC	AAC,A,AACAC	0	3	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	Moderate to strong cytoplasmic staining was observed in respiratory epithelium, hepatocytes, gall bladder and renal tubules. Remaining normal tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000173041-ZNF680/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 22.6	nucleus but not nucleoli	.	.
L	7	70231182	rs76384598	G	A	222	PASS	AUTS2	.	exonic	NM_001127231,NM_015570	.	synonymous SNV	AUTS2:NM_001127231:exon9:c.G1551A:p.P517P,AUTS2:NM_015570:exon9:c.G1551A:p.P517P	ENST00000443672.1,ENST00000481994.1,ENST00000406775.6,ENST00000615871.4,ENSG00000158321.15,ENST00000342771.8,ENST00000611706.4	.	7q11.22	.	.	.	.	.	rs76384598	.	.	0.0182724	0.0149	0.00299521	7.7e-05	0.00085191	274678	0.01192622	18866	0.01068791	0.01496479	.	-0.0699	.	.	.	.	1,D	.	.	.	3.4337	0.770	-0.442	1.544275,13.55	2.53	.	VDB=0.0638731;SGB=-0.693147;RPB=0.328392;MQB=1.0735e-19;MQSB=0.430857;BQB=0.991118;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=181;DP4=48,18,60,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/1:140:255,0,255:66,74	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_HISTONE_METHYLATION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_HISTONE_H3_K4_METHYLATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REFLEX;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_VOCALIZATION_BEHAVIOR;GO_POSITIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_REGULATION_OF_PROTEIN_ACETYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_HISTONE_H3_K4_METHYLATION;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_ACETYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HISTONE_METHYLATION;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_HISTONE_H4_ACETYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_BEHAVIOR;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Most normal cells showed weak to moderate nuclear positivity.	http://www.proteinatlas.org/ENSG00000158321-AUTS2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 23.4	nucleus but not nucleoli; cytoplasm	.	BS2
H	7	75621828	rs143623169	A	C	222	PASS	TMEM120A	Transmembrane protein 120A	exonic	NM_001317803,NM_031925	.	unknown	UNKNOWN	ENSG00000189077.10,ENST00000485200.1,ENST00000431867.5,ENST00000480538.2,ENST00000493111.6,ENST00000439537.5,ENST00000440632.5,ENST00000417509.5	.	7q11.23	.	.	.	.	.	rs143623169	.	.	0.0282392	0.0308	0.0061901	.	0.00189976	240030	0.02689339	16584	0.02548638	0.02469136	.	3.6835	.	.	.	.	.	.	.	.	.	0.184	0.137	.	.	.	VDB=0.407143;SGB=-0.692067;RPB=0.92098;MQB=5.90128e-07;MQSB=0.594712;BQB=0.540641;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=50;DP4=12,8,10,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/1:40:255,0,255:20,20	A	C	0	1	Transmembrane protein 120A, 616550	.	.	.	26024229	GO_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_FAT_CELL_DIFFERENTIATION;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_HETEROOLIGOMERIZATION	GO_NUCLEAR_ENVELOPE;GO_ORGANELLE_INNER_MEMBRANE;GO_NUCLEAR_INNER_MEMBRANE;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000189077-TMEM120A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 54.7	.	.	.
H	7	76058916	rs149364780	C	T	222	PASS	ZP3	Zona pellucida glycoprotein-3 (sperm receptor)	exonic	NM_001110354,NM_007155	.	missense SNV	ZP3:NM_001110354:exon2:c.C397T:p.R133C,ZP3:NM_007155:exon3:c.C244T:p.R82C	ENST00000416245.5,ENST00000394857.7,ENST00000336517.8,ENSG00000188372.14	.	7q11.23	.	.	.	.	.	rs149364780	.	.	0	.	0.000199681	7.7e-05	0.00001443	277168	.	.	.	.	.	-2.8725	Zona pellucida domain	0.067,T	0.897,P	0.999,D	0.999997,N	0.502659,N	2.74,M	-1.61,D	8.4169	1.288	1.141	5.944968,27.6	4.52	0.0967996272356	VDB=7.63362e-07;SGB=-0.693147;RPB=0.511262;MQB=7.16764e-17;MQSB=0.815932;BQB=0.575913;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=170;DP4=31,30,26,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:116:255,0,255:61,55	C	T	0	1	Zona pellucida glycoprotein-3 (sperm receptor), 182889	.	.	.	28886344|1556174|7789967|1968044|19052627|8467708|1478648|11940668	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ION_TRANSPORT;GO_SINGLE_FERTILIZATION;GO_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_REGULATION_OF_INTERLEUKIN_4_PRODUCTION;GO_REGULATION_OF_INFLAMMATORY_RESPONSE_TO_ANTIGENIC_STIMULUS;GO_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_TRANSITION_METAL_ION_TRANSPORT;GO_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_METAL_ION_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_OOGENESIS;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MANGANESE_ION_TRANSPORT;GO_BLASTOCYST_FORMATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_GROWTH;GO_CATION_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_B_CELL_MEDIATED_IMMUNITY;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_SECRETION;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_HUMORAL_IMMUNE_RESPONSE;GO_REGULATION_OF_FEMALE_GONAD_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_PROTEIN_KINASE_C_SIGNALING;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_SPERM_EGG_RECOGNITION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_BLASTOCYST_DEVELOPMENT;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_OOCYTE_DIFFERENTIATION;GO_CALCIUM_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ACROSOME_REACTION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_4_PRODUCTION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_T_CELL_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_HUMORAL_IMMUNE_RESPONSE_MEDIATED_BY_CIRCULATING_IMMUNOGLOBULIN;GO_REGULATION_OF_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_FEMALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_CELL_RECOGNITION;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_HUMORAL_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_FERTILIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CELL_RECOGNITION;GO_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_IMMUNITY;GO_REPRODUCTION;GO_REGULATION_OF_ION_TRANSPORT;GO_GERM_CELL_DEVELOPMENT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_POSITIVE_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_POSITIVE_REGULATION_OF_SECRETION;GO_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA;GO_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_IMMUNE_EFFECTOR_PROCESS;GO_DIVALENT_INORGANIC_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY	GO_MULTIVESICULAR_BODY;GO_EXTRACELLULAR_MATRIX;GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_ACROSOMAL_MEMBRANE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_INTRACELLULAR_VESICLE;GO_LATE_ENDOSOME;GO_EXTRACELLULAR_SPACE;GO_SECRETORY_GRANULE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ACROSOMAL_VESICLE;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_ENDOSOME	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CARBOHYDRATE_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSITION_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_STORE_OPERATED_CALCIUM_CHANNEL_ACTIVITY;GO_ENZYME_BINDING;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Follicle of ovary sowed strong cytoplasmic positivity. Moderate positivity was seen in adrenal gland, bronchus, gastrointestinal tract, Leydig cells, heart myocytes and renal tubules. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000188372-ZP3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 4.2	.	.	PM1, PM2
L	7	76141071	rs375183523	G	A	222	PASS	UPK3B	Uroplakin 3B	exonic	NM_001347684,NM_030570,NM_182683,NM_182684	.	synonymous SNV	UPK3B:NM_030570:exon2:c.G498A:p.P166P,UPK3B:NM_001347684:exon3:c.G333A:p.P111P,UPK3B:NM_182683:exon3:c.G333A:p.P111P,UPK3B:NM_182684:exon3:c.G333A:p.P111P	ENST00000257632.9,ENST00000469114.1,ENST00000334348.7,ENST00000394849.1,ENST00000490360.1,ENSG00000243566.6	.	7q11.23	.	.	.	Score=0.97947;Name=chr7:76575576	.	rs375183523	.	.	0.00166113	0.001	0.000199681	.	0.00035082	267944	0.00462216	18606	0.00894246	0.01063830	.	-1.1209	.	.	.	.	.	.	.	.	.	2.443	-0.117	.	4.25	.	VDB=0.0120237;SGB=-0.693143;RPB=0.678022;MQB=1.68571e-08;MQSB=0.73693;BQB=0.978283;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=303;DP4=48,50,65,64;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:62:255,0,255:24,38	0/0:50:.:.	0/1:71:255,0,255:29,42	0/0:50:.:.	0/1:94:255,0,255:45,49	G	A	0	3	Uroplakin 3B, 611887	.	.	.	12446744	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION	.	.	.	.	.	.	High membranous expression in umbrella cells in urinary bladder.	http://www.proteinatlas.org/ENSG00000243566-UPK3B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	tonsil: 3.1	nucleus; vesicles; cytoplasm	.	.
H	7	77807397	.	A	T	222	PASS	MAGI2	Membrane-associated guanylate kinase, WW and PDZ domains-containing, 2	exonic	NM_001301128,NM_012301	.	missense SNV	MAGI2:NM_001301128:exon13:c.T2292A:p.D764E,MAGI2:NM_012301:exon14:c.T2334A:p.D778E	ENST00000637486.1,ENST00000419488.5,ENST00000524316.5,ENST00000535697.5,ENST00000628980.2,ENSG00000187391.19,ENST00000629359.2,ENST00000519748.5,ENST00000522391.3,ENST00000636178.1,ENST00000626691.2,ENST00000628361.1,ENST00000354212.8,ENST00000637282.1,ENST00000637441.1	.	7q21.11	.	.	Score=820;Name=V$FREAC2_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0280	PDZ domain	0.148,T	0.175,B	0.24,B	0.956495,D	0.002025,U	-0.195,N	1.08,T	9.6401	1.021	1.407	1.808134,15.03	3.45	0.00626004936107	VDB=0.128979;SGB=-0.693021;RPB=0.950259;MQB=8.68549e-10;MQSB=0.962979;BQB=0.926616;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=83;DP4=18,17,14,13;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:62:255,0,255:35,27	A	T	0	1	Nephrotic syndrome 15, 617609 (3), Autosomal recessive	.	.	.	25271328|24608321|27932480|16870733|9694864|10644767|10080919|25108225|9734811|15994232|18565486|10681527|15951562|9647693	GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_SMAD_PROTEIN_SIGNAL_TRANSDUCTION;GO_EPITHELIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_SYNAPSE_ORGANIZATION;GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_MEMBRANE_BIOGENESIS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_CELL_CYCLE_ARREST;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_WNT_SIGNALING_PATHWAY;GO_MEMBRANE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE_ARREST;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PROTEIN_OLIGOMERIZATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSTSYNAPTIC_MEMBRANE_ORGANIZATION;GO_GLOMERULUS_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_RECEPTOR_INTERNALIZATION;GO_NEUROGENESIS;GO_GROWTH;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_CELL_CYCLE;GO_GLOMERULAR_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_REGULATION_OF_TRANSPORT;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_NEPHRON_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DEPHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_AXIS_ELONGATION;GO_REGULATION_OF_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEUROTROPHIN_SIGNALING_PATHWAY;GO_DEVELOPMENTAL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_RECEPTOR_CLUSTERING;GO_SYNAPSE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_HETEROOLIGOMERIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_EXCITATORY_SYNAPSE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_NEURON_PART;GO_APICAL_JUNCTION_COMPLEX;GO_POSTSYNAPSE;GO_CELL_JUNCTION;GO_SYNAPSE;GO_LATE_ENDOSOME;GO_NEURON_PROJECTION;GO_CELL_CELL_JUNCTION;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_SYNAPSE_PART;GO_ENDOSOME;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SMAD_BINDING;GO_PROTEIN_COMPLEX_SCAFFOLD;GO_ADRENERGIC_RECEPTOR_BINDING;GO_PHOSPHATASE_BINDING;GO_RECEPTOR_SERINE_THREONINE_KINASE_BINDING;GO_RECEPTOR_SIGNALING_COMPLEX_SCAFFOLD_ACTIVITY;GO_ENZYME_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_TIGHT_JUNCTION	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_NEPHRIN_INTERACTIONS	Cytoplasmic and nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000187391-MAGI2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 5.7	.	.	PM2
H	7	82581487	.	T	TCTC	84	PASS	PCLO	Piccolo, mouse, homolog of	exonic	NM_014510,NM_033026	.	nonframeshift insertion	PCLO:NM_014510:exon5:c.8781_8782insGAG:p.K2928delinsEK,PCLO:NM_033026:exon5:c.8781_8782insGAG:p.K2928delinsEK	ENST00000333891.13,ENSG00000186472.19,ENST00000423517.6	.	7q21.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00117233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.662696;SGB=-0.636426;MQSB=0.564628;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=98;DP4=0,4,6,1;IDV=3;IMF=0.0306122;MinDP=37;AN=18;AC=1	GT:DP:PL:AD	0/0:37:.:.	0/0:61:.:.	0/0:81:.:.	0/0:69:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:11:117,0,77:4,7	T	TCTC	0	1	?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive	.	.	.	25832664|10707984|12401793|9628581|12771259|14734538	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_SYNAPSE_ORGANIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_CYTOSKELETON_ORGANIZATION;GO_PROTEIN_SECRETION;GO_INSULIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_NEUROTRANSMITTER_TRANSPORT;GO_HORMONE_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_PEPTIDE_SECRETION;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYNAPTIC_SIGNALING;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_PEPTIDE_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT;GO_SYNAPSE_ASSEMBLY;GO_CAMP_MEDIATED_SIGNALING	GO_EXCITATORY_SYNAPSE;GO_CYTOPLASMIC_REGION;GO_CELL_CORTEX_PART;GO_NEURON_PART;GO_POSTSYNAPSE;GO_CORTICAL_CYTOSKELETON;GO_CELL_CORTEX_REGION;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_SYNAPSE;GO_PRESYNAPTIC_ACTIVE_ZONE;GO_CELL_CORTEX;GO_PRESYNAPSE;GO_SYNAPSE_PART	GO_CALCIUM_ION_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	Cytoplasmic expression in most tissues at variable levels. Higher expression in glandular epithelia and lower in CNS and lymphoid cells.	http://www.proteinatlas.org/ENSG00000186472-PCLO/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 3.5	cytoskeleton (intermediate filaments); plasma membrane; cell junctions	.	PM2, PM4
H	7	82581491	.	A	ATAC	28.3038	PASS	PCLO	Piccolo, mouse, homolog of	exonic	NM_014510,NM_033026	.	nonframeshift insertion	PCLO:NM_014510:exon5:c.8777_8778insGTA:p.D2926delinsEY,PCLO:NM_033026:exon5:c.8777_8778insGTA:p.D2926delinsEY	ENST00000423517.6,ENSG00000186472.19,ENST00000333891.13	.	7q21.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00039479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.988714;SGB=-0.590765;MQSB=0.559863;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=99;DP4=2,3,4,1;IDV=2;IMF=0.020202;MinDP=5;AN=16;AC=1	GT:DP:PL:AD	0/0:6:.:.	0/0:5:.:.	0/0:5:.:.	0/0:7:.:.	0/0:10:.:.	./.:.:.:.	0/0:7:.:.	0/0:6:.:.	0/1:10:61,0,97:5,5	A	ATAC	0	1	?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive	.	.	.	25832664|10707984|12401793|9628581|12771259|14734538	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_SYNAPSE_ORGANIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_CYTOSKELETON_ORGANIZATION;GO_PROTEIN_SECRETION;GO_INSULIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_NEUROTRANSMITTER_TRANSPORT;GO_HORMONE_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_PEPTIDE_SECRETION;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYNAPTIC_SIGNALING;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_PEPTIDE_TRANSPORT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT;GO_SYNAPSE_ASSEMBLY;GO_CAMP_MEDIATED_SIGNALING	GO_EXCITATORY_SYNAPSE;GO_CYTOPLASMIC_REGION;GO_CELL_CORTEX_PART;GO_NEURON_PART;GO_POSTSYNAPSE;GO_CORTICAL_CYTOSKELETON;GO_CELL_CORTEX_REGION;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_SYNAPSE;GO_PRESYNAPTIC_ACTIVE_ZONE;GO_CELL_CORTEX;GO_PRESYNAPSE;GO_SYNAPSE_PART	GO_CALCIUM_ION_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	Cytoplasmic expression in most tissues at variable levels. Higher expression in glandular epithelia and lower in CNS and lymphoid cells.	http://www.proteinatlas.org/ENSG00000186472-PCLO/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 3.5	cytoskeleton (intermediate filaments); plasma membrane; cell junctions	.	PM2, PM4
L	7	86556234	.	TACA	T	30.1187	PASS	KIAA1324L	KIAA1324-like gene	splicing	NM_001142749,NM_001291990,NM_001291991,NM_152748	.	.	.	ENST00000450689.6,ENST00000394714.6,ENSG00000164659.14,ENST00000423294.5,ENST00000416314.5,ENST00000444627.5	.	7q21.12	.	.	.	.	Score=189;Name="4378228:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00993765	0.00241546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0711771;SGB=-0.556411;MQSB=0.89338;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=27;DP4=3,2,2,2;IDV=3;IMF=0.111111;MinDP=5;AN=14;AC=1	GT:DP:PL:AD	./.:.:.:.	0/0:5:.:.	./.:.:.:.	0/0:14:.:.	0/0:10:.:.	0/0:12:.:.	0/0:5:.:.	0/0:12:.:.	0/1:9:63,0,117:5,4	TACA	T	0	1	KIAA1324-like gene, 614048	.	.	.	21177533	.	.	.	.	.	.	.	Stomach, exocrine pancreas and the neuronal cells of lateral ventricle showed strong cytoplasmic staining. Purkinje cells and gall bladder exhibited moderate positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000164659-KIAA1324L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lung: 14.8	.	.	.
M	7	92244518	.	C	T	222	PASS	CDK6	Cyclin-dependent kinase 6	exonic	NM_001145306,NM_001259	.	missense SNV	CDK6:NM_001145306:exon8:c.G917A:p.C306Y,CDK6:NM_001259:exon8:c.G917A:p.C306Y	ENST00000265734.8,ENST00000424848.2,ENST00000467166.1,ENSG00000105810.9	.	7q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.0,B	0.001,B	0.999963,N	0.835080,N	0.695,N	-0.6,T	7.0219	0.729	0.604	.	2.86	0.0088980197735	VDB=0.015881;SGB=-0.693141;RPB=0.585421;MQB=1.71777e-09;MQSB=0.845469;BQB=0.99205;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=96;DP4=23,9,24,13;MinDP=28;AN=18;AC=1	GT:DP:PL:AD	0/0:28:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:32,37	C	T	0	1	?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive	.	.	.	7882308|9422538|9102208|8001816|10499802|23918663|22683624|10879740|15315761|1639063|8114739|11930009|10777219|14647273	GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_LEUKOCYTE_ACTIVATION;GO_DENTATE_GYRUS_DEVELOPMENT;GO_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_SENESCENCE;GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_DIVISION;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_TYPE_B_PANCREATIC_CELL_DEVELOPMENT;GO_GLIAL_CELL_DEVELOPMENT;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_CELL_CYCLE_ARREST;GO_CELL_ACTIVATION;GO_VENTRICULAR_SYSTEM_DEVELOPMENT;GO_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_HEMATOPOIETIC_STEM_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_PANCREAS_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_AGING;GO_CELL_CELL_ADHESION;GO_GLANDULAR_EPITHELIAL_CELL_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_THYMOCYTE_AGGREGATION;GO_LYMPHOCYTE_ACTIVATION;GO_HIPPOCAMPUS_DEVELOPMENT;GO_GLIOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_ENDOCRINE_PANCREAS_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ASTROCYTE_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NOTCH_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION;GO_NEUROGENESIS;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DEVELOPMENT;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_ENTEROENDOCRINE_CELL_DIFFERENTIATION;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELLULAR_SENESCENCE;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_LATERAL_VENTRICLE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_STEM_CELL_DIFFERENTIATION;GO_GLIAL_CELL_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_NEGATIVE_REGULATION_OF_OSSIFICATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_T_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RESPONSE_TO_VIRUS;GO_BIOLOGICAL_ADHESION;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_CELL_AGING;GO_LYMPHOCYTE_DIFFERENTIATION;GO_ASTROCYTE_DEVELOPMENT;GO_REGULATION_OF_OSSIFICATION;GO_GLANDULAR_EPITHELIAL_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_MICROTUBULE_CYTOSKELETON;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_TRANSFERASE_COMPLEX;GO_PROTEIN_KINASE_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_CELL_PROJECTION;GO_RUFFLE;GO_CELL_LEADING_EDGE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_HOLOENZYME_COMPLEX	GO_CYCLIN_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_GLIOMA;KEGG_MELANOMA;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_P73PATHWAY;PID_AR_PATHWAY;PID_CMYB_PATHWAY;PID_IL2_STAT5_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_G1_PATHWAY;BIOCARTA_CELLCYCLE_PATHWAY;BIOCARTA_RACCYCD_PATHWAY	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES	Cytoplasmic expression in many cell types which in cases was combined with nuclear expression. Highest expression in bone marrow poietic cells.	http://www.proteinatlas.org/ENSG00000105810-CDK6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 13.6	nucleus but not nucleoli; cytoplasm	.	BP4, PM2
H-	7	92760823	rs139478067	C	T	222	PASS	SAMD9L	Sterile alpha motif domain-containing 9-like	exonic	NM_001303496,NM_001303497,NM_001303498,NM_001303500,NM_001350082,NM_001350083,NM_001350084,NM_001350085,NM_152703	.	missense SNV	SAMD9L:NM_001303500:exon4:c.G4462A:p.V1488I,SAMD9L:NM_001350083:exon4:c.G4462A:p.V1488I,SAMD9L:NM_001303496:exon5:c.G4462A:p.V1488I,SAMD9L:NM_001303498:exon5:c.G4462A:p.V1488I,SAMD9L:NM_001350085:exon5:c.G4462A:p.V1488I,SAMD9L:NM_152703:exon5:c.G4462A:p.V1488I,SAMD9L:NM_001303497:exon6:c.G4462A:p.V1488I,SAMD9L:NM_001350082:exon6:c.G4462A:p.V1488I,SAMD9L:NM_001350084:exon6:c.G4462A:p.V1488I	ENST00000411955.5,ENST00000610760.1,ENSG00000177409.11,ENST00000437805.5,ENST00000318238.8	.	7q21.2	.	.	.	.	.	rs139478067	.	.	0.00830565	0.0069	0.00139776	0.0002	0.00108902	276396	0.01309928	18856	0.01457443	0.01584507	.	.	.	0.127,T	0.799,P	0.933,P	0.992579,D	0.000014,D	1.935,L	1.69,T	11.1684	2.716	1.236	1.148471,11.47	5.22	.	VDB=0.435094;SGB=-0.693097;RPB=0.412629;MQB=1.47374e-10;MQSB=0.952349;BQB=0.99776;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=125;DP4=43,14,22,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:52:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:87:255,0,255:57,30	C	T	0	1	Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant	.	.	.	19358830|27259050|21412262|17407603|283689	.	.	.	.	.	.	.	Ubiquitous cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000177409-SAMD9L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 30.3	cytoplasm	.	.
L	7	99631580	rs184051052	G	A	222	PASS	ZKSCAN1	.	exonic	NM_001287054,NM_001287055,NM_001346580,NM_001346581,NM_003439	.	synonymous SNV	ZKSCAN1:NM_001287055:exon4:c.G813A:p.T271T,ZKSCAN1:NM_003439:exon6:c.G1452A:p.T484T,ZKSCAN1:NM_001346580:exon7:c.G1344A:p.T448T,ZKSCAN1:NM_001346581:exon7:c.G1452A:p.T484T,ZKSCAN1:NM_001287054:exon8:c.G1344A:p.T448T	ENST00000426572.5,ENST00000620510.1,ENST00000535170.5,ENSG00000106261.16,ENST00000324306.10	.	7q22.1	.	.	.	.	.	rs184051052	.	.	0.00332226	0.002	0.000399361	.	0.00011550	277054	0.00153699	18868	0.00233191	0.00440141	.	.	.	.	.	.	.	.	.	.	.	-2.123	-13.589	1.027706,10.82	.	.	VDB=0.120139;SGB=-0.693139;RPB=0.653373;MQB=1.19192e-09;MQSB=0.989582;BQB=0.656568;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=233;DP4=59,27,51,25;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/1:75:255,0,255:39,36	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:87:255,0,255:47,40	G	A	0	2	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000106261-ZKSCAN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	stomach: 24.4	nucleus but not nucleoli; mitochondria	.	BP7, PM2
H	7	100072044	rs117565935	C	T	222	PASS	TSC22D4	TSC22 domain family, member 4	exonic	NM_001303043,NM_030935	.	missense SNV	TSC22D4:NM_001303043:exon3:c.G782A:p.R261H,TSC22D4:NM_030935:exon3:c.G782A:p.R261H	ENST00000493217.1,ENSG00000166925.8,ENST00000300181.6,ENST00000393991.5,ENST00000496728.1	.	7q22.1	.	.	.	.	.	rs117565935	.	.	0.038206	0.0377	0.00758786	.	0.00317236	276450	0.04587886	18854	0.03614458	0.03417266	.	-2.8555	.	0.061,T	0.005,B	0.012,B	0.9452,N	0.000127,D	0.46,N	.	8.2767	0.498	1.620	3.301264,22.9	3.17	.	VDB=0.0708832;SGB=-0.693021;RPB=0.9084;MQB=1.50129e-09;MQSB=0.880819;BQB=0.893112;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=17,16,11,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:60:255,0,255:33,27	C	T	0	1	TSC22 domain family, member 4, 611914	.	.	.	17147695|11707329|10488076	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Moderate to strong cytoplasmic positivity was observed in the majority of normal tissues. Cells in the CNS, myocytes, endocrine glands, squamous and respiratory epithelia were negative.	http://www.proteinatlas.org/ENSG00000166925-TSC22D4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 115.4	.	.	BS1
L	7	100683520	rs75247423	C	T	222	PASS	MUC17	Mucin 17	exonic	NM_001040105	.	synonymous SNV	MUC17:NM_001040105:exon3:c.C8823T:p.A2941A	ENSG00000169876.13,ENST00000306151.8,ENST00000379439.3	.	7q22.1	.	.	.	.	.	rs75247423	.	.	0.0299003	0.0248	0.00499201	.	0.00169914	275434	0.02422604	18864	0.02040420	0.01584507	.	.	.	.	.	.	.	.	.	.	.	0.704	0.555	1.433905,12.97	.	.	VDB=0.203278;SGB=-0.693147;RPB=0.984309;MQB=0;MQSB=0.999963;BQB=0.69106;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=535;DP4=134,88,120,80;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:280:.:.	0/0:393:.:.	0/0:415:.:.	0/0:454:.:.	0/0:316:.:.	0/0:335:.:.	0/0:341:.:.	0/0:100:.:.	0/1:422:255,0,255:222,200	C	T	0	1	Mucin 17, 608424	.	.	.	11855812|17058067	GO_HOMEOSTATIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_CELLULAR_HOMEOSTASIS;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_APICAL_PART_OF_CELL;GO_GOLGI_APPARATUS_PART;GO_MICROVILLUS;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN;GO_MEMBRANE_REGION	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Luminal membranous expression in small intestine.	http://www.proteinatlas.org/ENSG00000169876-MUC17/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	rectum: 2.5	.	.	BP7
H	7	102574365	.	G	C	222	PASS	LRRC17	.	exonic	NM_001031692,NM_005824	.	missense SNV	LRRC17:NM_001031692:exon2:c.G5C:p.R2P,LRRC17:NM_005824:exon2:c.G5C:p.R2P	ENST00000379305.7,ENST00000448002.6,ENST00000456695.5,ENST00000436908.5,ENSG00000161040.16,ENST00000455453.1,ENST00000249377.4,ENST00000455112.6,ENSG00000128606.12,ENST00000379308.7,ENST00000339431.8,ENST00000313221.8,ENST00000477915.5	.	7q22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3285	.	0.004,D	0.473,P	0.874,P	1,D	0.001867,N	1.87,L	-0.06,T	7.3201	0.897	1.778	5.572160,26.4	2.5	0.059186586892	VDB=0.565641;SGB=-0.69312;RPB=0.439759;MQB=1.8851e-09;MQSB=0.799321;BQB=0.900517;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=80;DP4=20,10,21,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:62:255,0,255:30,32	G	C	0	1	.	.	.	.	.	GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_OSTEOBLAST_DIFFERENTIATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_BONE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_OSSIFICATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION	GO_EXTRACELLULAR_SPACE	.	.	.	.	.	Most normal tissues displayed moderate cytoplasmic and membranous staining. Strong positivity was observed in the gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000128606-LRRC17/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 27.1	nucleus but not nucleoli; plasma membrane; cytoplasm	.	PM2, PP3
L	7	104752798	rs74959149	G	A	222	PASS	KMT2E	Lysine (K)-specific methyltransferase 2E	exonic	NM_018682,NM_182931	.	missense SNV	KMT2E:NM_018682:exon26:c.G4595A:p.S1532N,KMT2E:NM_182931:exon27:c.G4595A:p.S1532N	ENST00000311117.7,ENSG00000005483.20,ENST00000493638.1,ENST00000257745.8,ENSG00000135250.16,ENST00000334884.9	.	7q22.3	.	.	.	.	.	rs74959149	.	.	0.0348837	0.0298	0.019369	0.0082	0.01669518	275888	0.03575217	18852	0.02876020	0.02376761	.	.	.	0.092,T	0.004,B	0.004,B	1,D	0.002112,N	0.55,N	-2.79,D	6.9388	0.560	2.099	.	2.59	.	VDB=0.0648962;SGB=-0.69312;RPB=0.433507;MQB=5.49279e-11;MQSB=0.994195;BQB=0.925758;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=222;DP4=61,23,53,24;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:82:.:.	0/1:74:255,0,255:42,32	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:87:255,0,255:42,45	G	A	0	2	Lysine (K)-specific methyltransferase 2E, 608444	.	.	.	14718661|12101424|19377461	.	.	.	.	.	.	.	Cytoplasmic expression in subsets of immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000005483-KMT2E/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 37.1	nucleus but not nucleoli; vesicles; cytoskeleton (cytokinetic bridge)	.	.
L	7	105254801	rs780381021	AGAGGAG	A	222	PASS	ATXN7L1	.	exonic	NM_001318229,NM_020725,NM_138495	.	nonframeshift deletion	ATXN7L1:NM_138495:exon8:c.1602_1607del:p.534_536del,ATXN7L1:NM_001318229:exon10:c.1326_1331del:p.442_444del,ATXN7L1:NM_020725:exon10:c.1974_1979del:p.658_660del	ENST00000477775.5,ENST00000472195.1,ENST00000419735.7,ENST00000474433.5,ENSG00000146776.14,ENST00000484475.5	.	7q22.3	.	.	.	.	Score=258;Name="4412863:(GGA)n(Simple_repeat)"	rs780381021	.	.	.	.	.	.	0.00271712	141694	0.02906832	8050	0.02235853	0.02044610	.	.	.	.	.	.	.	.	.	.	.	.	.	1.092485,9.459	.	.	INDEL;VDB=0.000231434;SGB=-0.692914;MQSB=0.984335;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=67;DP4=22,9,13,12;IDV=25;IMF=0.373134;MinDP=37;AN=16;AC=1	GT:DP:PL:AD	0/0:37:.:.	0/0:71:.:.	0/0:63:.:.	0/0:64:.:.	0/0:50:.:.	0/0:63:.:.	./.:.:.:.	0/0:78:.:.	0/1:56:255,0,255:31,24	AGAGGAG	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal cells showed weak to moderate cytoplasmic staining. Lymphoid tissues and glial cells were generally negative.	http://www.proteinatlas.org/ENSG00000146776-ATXN7L1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 8.9	nucleus; cytoplasm	.	BP3
H	7	107167769	rs79413133	T	C	222	PASS	COG5	Component of oligomeric golgi complex 5	exonic	NM_001161520,NM_006348,NM_181733	.	missense SNV	COG5:NM_001161520:exon6:c.A544G:p.I182V,COG5:NM_006348:exon6:c.A544G:p.I182V,COG5:NM_181733:exon6:c.A544G:p.I182V	ENST00000605888.1,ENST00000347053.7,ENSG00000164597.13,ENST00000475638.6,ENST00000297135.7,ENST00000393603.6	.	7q22.3	.	.	.	.	.	rs79413133	Uncertain significance|Benign;Congenital_disorder_of_glycosylation|not_specified;RCV000368878.1|RCV000439520.1;MedGen:Orphanet:SNOMED_CT|MedGen;C0282577:ORPHA137:238049009|CN169374	.	0.0299003	0.0258	0.00519169	0.0002	0.00220449	276254	0.02771878	18832	0.02778857	0.02920354	.	-0.1059	.	0.14,T	0.1,B	0.476,P	0.999995,D	0.000000,D	1.1,L	2.29,T	15.837	2.199	7.654	1.944832,15.87	5.47	.	VDB=0.0130144;SGB=-0.693097;RPB=0.388584;MQB=6.03593e-08;MQSB=0.824494;BQB=0.967084;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=84;DP4=20,10,18,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:60:255,0,255:30,30	T	C	0	1	Congenital disorder of glycosylation, type IIi, 613612 (3)	.	.	.	19690088|11980916|9792665	GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT	GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_TRANSPORT_COMPLEX;GO_GOLGI_APPARATUS;GO_TRANS_GOLGI_NETWORK_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	.	.	.	.	.	General cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000164597-COG5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 33.1	golgi apparatus	.	BP6
L	7	120990567	.	C	T	173	PASS	FAM3C	Family with sequence similarity 3, member C	exonic	NM_001040020,NM_014888	.	missense SNV	FAM3C:NM_001040020:exon10:c.G632A:p.G211E,FAM3C:NM_014888:exon10:c.G632A:p.G211E	ENST00000474082.1,ENST00000359943.7,ENSG00000196937.10	.	7q31.31	.	.	.	Score=0.994125;Name=chrX:23094795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.891,P	0.969,D	1,D	0.000000,D	3.295,M	0.58,T	20.6525	2.890	7.399	6.701284,32	6.07	0.0586548160204	VDB=0.351783;SGB=-0.689466;RPB=0.0718906;MQB=0.010776;MQSB=1;BQB=0.925036;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=33;DP4=11,0,15,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:11:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:27:206,0,163:11,16	C	T	0	1	Family with sequence similarity 3, member C, 608618	.	.	.	12160727	GO_SECRETION_BY_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SECRETION;GO_EXOCYTOSIS;GO_PLATELET_DEGRANULATION;GO_REGULATED_EXOCYTOSIS	GO_SECRETORY_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_PLATELET_DENSE_GRANULE_LUMEN;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART;GO_GOLGI_APPARATUS;GO_PLATELET_DENSE_GRANULE	GO_RECEPTOR_BINDING;GO_CYTOKINE_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000196937-FAM3C/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 76.9	golgi apparatus	.	PM2, PP3
H	7	128452314	.	GTT	G	222	PASS	CCDC136	Coiled-coil domain-containing protein 136	exonic	NM_022742	.	frameshift deletion	CCDC136:NM_022742:exon13:c.2490_2491del:p.S830fs	ENST00000528772.1,ENST00000297788.8,ENST00000464832.5,ENST00000378685.8,ENST00000487361.5,ENST00000464672.1,ENST00000480137.1,ENSG00000128596.16,ENST00000494552.5	.	7q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.000572597;SGB=-0.693147;MQSB=0.940939;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=150;DP4=25,40,31,35;IDV=74;IMF=0.493333;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:131:255,0,255:65,66	GTT	G	0	1	Coiled-coil domain-containing protein 136, 611902	.	.	.	11347906|15112360	.	.	.	.	.	.	.	RNA characterization data suggests high expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000128596-CCDC136/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	cerebral cortex: 20.7	nucleoli	.	PM2
H	7	128587344	.	G	GGCCGCCCACTCTGCAGCCGCCCACTCTGCA	225	PASS	IRF5	Interferon regulatory factor 5	exonic	NM_001098627,NM_001098629,NM_001098630,NM_001347928,NM_032643	.	nonframeshift insertion	IRF5:NM_001098627:exon6:c.494_495insGCCGCCCACTCTGCAGCCGCCCACTCTGCA:p.W165delinsWPPTLQPPTLQ,IRF5:NM_001098629:exon6:c.542_543insGCCGCCCACTCTGCAGCCGCCCACTCTGCA:p.W181delinsWPPTLQPPTLQ,IRF5:NM_001098630:exon6:c.494_495insGCCGCCCACTCTGCAGCCGCCCACTCTGCA:p.W165delinsWPPTLQPPTLQ,IRF5:NM_001347928:exon6:c.542_543insGCCGCCCACTCTGCAGCCGCCCACTCTGCA:p.W181delinsWPPTLQPPTLQ,IRF5:NM_032643:exon6:c.494_495insGCCGCCCACTCTGCAGCCGCCCACTCTGCA:p.W165delinsWPPTLQPPTLQ	ENST00000402030.6,ENST00000461416.1,ENST00000489702.6,ENST00000473745.5,ENST00000619830.1,ENST00000465603.5,ENSG00000128604.19,ENST00000249375.8,ENST00000357234.9,ENST00000477535.5	.	7q32.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00012650	268768	0.00181682	18714	0.00155521	0.00088496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0178153;SGB=-0.636426;MQSB=1.01283;MQ0F=0;MQ=50;DP=88;DP4=0,0,3,4;IDV=5;IMF=0.0568182;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:89:.:.	0/0:50:.:.	0/0:50:.:.	0/0:72:.:.	0/0:50:.:.	1/1:7:255,21,0:0,7	G	GGCCGCCCACTCTGCAGCCGCCCACTCTGCA	1	0	{Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)	.	.	.	12138184|11303025|18268344|17189288|17881657|16642019|17393452|15269782|17476532|18063667|15657875|17599733|15665823|11244049|17360658	GO_REGULATION_OF_INTERFERON_BETA_PRODUCTION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_RESPONSE_TO_PEPTIDE;GO_RESPONSE_TO_TYPE_I_INTERFERON;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_DEFENSE_RESPONSE_TO_VIRUS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_MURAMYL_DIPEPTIDE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_RESPONSE_TO_BACTERIUM;GO_POSITIVE_REGULATION_OF_INTERFERON_BETA_PRODUCTION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_INTERFERON_GAMMA_MEDIATED_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_INTERFERON_ALPHA_PRODUCTION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_INTERFERON_ALPHA_PRODUCTION;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_RESPONSE_TO_VIRUS;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY	PID_P53_DOWNSTREAM_PATHWAY	.	REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	The lymphoid tissues and inflammatory cells showed strong cytoplasmic staining. A subset of cilia in fallopian tube exhibited moderate positivity. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000128604-IRF5/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 13.0	.	.	PM2, PM4
H	7	129944402	rs3735051	C	A	222	PASS	CPA4	Carboxypeptidase A4	exonic	NM_001163446,NM_016352	.	missense SNV	CPA4:NM_001163446:exon4:c.C370A:p.P124T,CPA4:NM_016352:exon5:c.C469A:p.P157T	ENST00000470542.5,ENST00000493259.5,ENST00000490117.5,ENST00000473956.5,ENST00000474254.5,ENST00000222482.8,ENST00000492072.5,ENSG00000128510.10,ENST00000445470.6	.	7q32.2	.	.	.	.	.	rs3735051	.	.	0.0215947	0.0188	0.00419329	.	0.00156193	277222	0.02209857	18870	0.02098717	0.01957295	.	-0.3457	Peptidase M14, carboxypeptidase A	0.021,D	0.547,P	0.665,P	0.970418,D	0.001022,N	1.61,L	2.66,T	10.3975	-0.652	1.361	2.054127,16.56	.	.	VDB=0.0266148;SGB=-0.683931;RPB=0.859965;MQB=6.92664e-05;MQSB=0.0518913;BQB=0.195288;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=108;DP4=20,22,22,10;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:34:216,0,255:21,13	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/1:40:255,0,255:21,19	C	A	0	2	Carboxypeptidase A4, 607635	.	.	.	12676894|10383164|12552318|15738388|10825281	GO_CHROMOSOME_ORGANIZATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_PROTEIN_ACETYLATION;GO_CHROMATIN_MODIFICATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_CHROMATIN_ORGANIZATION;GO_PROTEIN_ACYLATION;GO_PROTEOLYSIS	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_CARBOXYPEPTIDASE_ACTIVITY;GO_METALLOEXOPEPTIDASE_ACTIVITY;GO_METALLOCARBOXYPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000128510-CPA4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	spleen: 1.9	nucleus but not nucleoli; cytoplasm; centrosome	.	PM1
H	7	130020952	rs141209213	C	T	222	PASS	CPA1	Carboxypeptidase A	exonic	NM_001868	.	stopgain	CPA1:NM_001868:exon2:c.C79T:p.R27X	ENST00000476062.5,ENSG00000091704.9,ENST00000011292.7,ENST00000481342.5,ENST00000604896.5,ENST00000484324.1,ENST00000491460.5	.	7q32.2	.	.	Score=822;Name=V$GFI1_01	.	.	rs141209213	.	.	.	.	.	0.0004	0.00043508	275814	.	.	.	.	.	-5.4350	Peptidase M14, carboxypeptidase A;Proteinase inhibitor, carboxypeptidase propeptide;Proteinase inhibitor, propeptide	.	.	.	1,A	0.000000,D	.	.	12.6567	2.372	2.720	12.272574,39	4.54	.	VDB=0.0153077;SGB=-0.693021;RPB=0.582986;MQB=3.66189e-09;MQSB=0.9787;BQB=0.945235;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=69;DP4=15,15,14,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:57:255,0,255:30,27	C	T	0	1	Carboxypeptidase A, 114850	.	Chronic pancreatitis, early onset(CM139175)	CGA-TGA|Arg27Term|c.79C>T|p.R27*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=23955596&amp;dopt=Abstract)	23955596|1417781|3455919|1969228|7570003|23955596	GO_PROTEOLYSIS	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_CARBOXYPEPTIDASE_ACTIVITY;GO_METALLOEXOPEPTIDASE_ACTIVITY;GO_METALLOCARBOXYPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING	.	.	.	.	Selective cytoplasmic expression in exocrine glandular cells.	http://www.proteinatlas.org/ENSG00000091704-CPA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	ovary: 87.5	.	.	PM1, PM2, PP3
H	7	130147641	rs189564965	C	A	222	PASS	COPG2	Coatomer protein complex, subunit gamma-2	exonic	NM_012133	.	unknown	UNKNOWN	ENST00000425248.5,ENST00000604965.1,ENST00000617523.1,ENSG00000270953.1,ENSG00000158623.14	.	7q32.2	.	.	.	.	.	rs189564965	.	.	0.00332226	0.003	0.000599042	.	0.00015541	276682	0.00196162	18862	0.00466563	0.00528169	.	-0.2419	.	.	.	.	.	.	.	.	12.7162	2.281	1.228	2.497680,19.45	4.96	.	VDB=0.012398;SGB=-0.689466;RPB=0.843828;MQB=1.48988e-06;MQSB=0.929904;BQB=0.850149;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=57;DP4=16,10,8,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:42:255,0,255:26,16	C	A	0	1	Coatomer protein complex, subunit gamma-2, 604355	.	.	.	10556286|11056392|10788617|17360540|10866202|10995575	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_RETROGRADE_VESICLE_MEDIATED_TRANSPORT_GOLGI_TO_ER;GO_PROTEIN_LOCALIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION	GO_VESICLE_MEMBRANE;GO_COPI_VESICLE_COAT;GO_GOLGI_ASSOCIATED_VESICLE_MEMBRANE;GO_VESICLE_COAT;GO_GOLGI_APPARATUS_PART;GO_COPI_COATED_VESICLE_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_COPI_COATED_VESICLE;GO_INTRACELLULAR_VESICLE;GO_GOLGI_ASSOCIATED_VESICLE;GO_GOLGI_MEMBRANE;GO_COATED_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_ENDOPLASMIC_RETICULUM;GO_COATED_MEMBRANE	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000158623-COPG2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 33.4	.	.	PP3
L	7	133868568	rs76794740	C	T	222	PASS	LRGUK	Leucine-rich repeats- and guanylate kinase domain-containing protein	exonic	NM_144648	.	missense SNV	LRGUK:NM_144648:exon11:c.C1297T:p.R433C	ENST00000285928.2,ENSG00000155530.2	.	7q33	.	.	.	.	.	rs76794740	.	.	0.0531561	0.0446	0.0125799	0.0056	0.00865641	277020	0.04113220	18866	0.03828216	0.02992958	.	-0.5671	Guanylate kinase-like;Guanylate kinase/L-type calcium channel beta subunit;P-loop containing nucleoside triphosphate hydrolase	0.02,D	0.999,D	1.0,D	0.999649,D	0.000233,D	2.895,M	0.94,T	13.8276	2.763	2.706	7.906288,35	5.83	.	VDB=0.716988;SGB=-0.693136;RPB=0.997776;MQB=1.34515e-08;MQSB=0.644292;BQB=0.588545;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=109;DP4=31,15,19,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/1:81:255,0,255:46,35	C	T	0	1	Leucine-rich repeats- and guanylate kinase domain-containing protein, 616478	.	.	.	25781171	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_MALE_GAMETE_GENERATION;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_SEXUAL_REPRODUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ORGANELLE_ASSEMBLY;GO_MICROTUBULE_BUNDLE_FORMATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_AXONEME_ASSEMBLY;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION	GO_MICROTUBULE_CYTOSKELETON;GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_ACROSOMAL_VESICLE	GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Selective cytoplasmic and membranous expression, most abundant in renal tubules and some epithelia. No expression in lymphoid tissues and cells of the CNS.	http://www.proteinatlas.org/ENSG00000155530-LRGUK/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 0.4	nucleus but not nucleoli; cytoplasm	.	BS1, PM1, PP3
L	7	135078926	rs531500595	A	G	222	PASS	CNOT4	CCR4-NOT transcription complex, subunit 4	exonic	NM_001008225,NM_001190847,NM_001190848,NM_001190849,NM_001190850,NM_013316	.	synonymous SNV	CNOT4:NM_001008225:exon10:c.T1362C:p.A454A,CNOT4:NM_001190847:exon10:c.T1371C:p.A457A,CNOT4:NM_001190848:exon10:c.T1371C:p.A457A,CNOT4:NM_001190849:exon10:c.T1362C:p.A454A,CNOT4:NM_001190850:exon10:c.T1371C:p.A457A,CNOT4:NM_013316:exon10:c.T1362C:p.A454A	ENST00000361528.8,ENST00000356162.5,ENST00000423368.6,ENSG00000080802.18,ENST00000541284.5,ENST00000451834.5,ENST00000315544.6,ENST00000428680.6,ENST00000414802.5	.	7q33	.	.	.	.	.	rs531500595	.	.	0.00166113	0.001	0.000199681	.	0.00001219	246096	0.00017393	17248	.	.	.	-0.1417	.	.	.	.	.	.	.	.	.	0.538	2.276	.	.	.	VDB=0.297521;SGB=-0.69311;RPB=0.900455;MQB=4.42697e-09;MQSB=0.746449;BQB=0.483414;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=92;DP4=25,15,18,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:71:255,0,255:40,31	A	G	0	1	CCR4-NOT transcription complex, subunit 4, 604911	.	.	.	10637334|19346402	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_G1_DNA_DAMAGE_CHECKPOINT;GO_PROTEIN_AUTOUBIQUITINATION;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_CYCLE;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_PROTEIN_UBIQUITINATION;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_DEADENYLATION_DEPENDENT_DECAY;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_NUCLEAR_TRANSCRIBED_MRNA_POLY_A_TAIL_SHORTENING;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_MRNA_METABOLIC_PROCESS;GO_DNA_INTEGRITY_CHECKPOINT;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_RNA_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS	GO_CCR4_NOT_COMPLEX	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	KEGG_RNA_DEGRADATION	.	.	REACTOME_DEADENYLATION_OF_MRNA;REACTOME_METABOLISM_OF_MRNA;REACTOME_DEADENYLATION_DEPENDENT_MRNA_DECAY;REACTOME_METABOLISM_OF_RNA	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000080802-CNOT4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 18.4	.	.	BP7, PM2
H	7	137531547	.	C	T	120	PASS	DGKI	Diacylglycerol kinase, iota, 130-kD	exonic	NM_001321708,NM_004717	.	missense SNV	DGKI:NM_001321708:exon1:c.G62A:p.R21H,DGKI:NM_004717:exon1:c.G62A:p.R21H	ENST00000288490.9,ENST00000470895.5,ENSG00000157680.15,ENST00000424189.6,ENST00000446122.5	CpG: 96	7q33	.	.	Score=815;Name=V$AHRARNT_02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028,D	0.002,B	0.041,B	1,N	0.466202,N	0,N	1.23,T	1.5577	0.501	0.591	4.537657,24.3	.	0.233846348127	VDB=0.93587;SGB=-0.636426;RPB=0.996435;MQB=0.0097687;MQSB=0.381255;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=30;DP4=8,4,6,1;MinDP=8;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:15:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:8:.:.	0/0:10:.:.	0/1:19:153,0,255:12,7	C	T	0	1	Diacylglycerol kinase, iota, 130-kD, 604072	.	.	.	9830018|8248222	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_SECRETION_BY_CELL;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_NEUROTRANSMITTER_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_ACTIVATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_EXCITATORY_POSTSYNAPTIC_POTENTIAL;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_WOUND_HEALING;GO_SECRETION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYNAPTIC_PLASTICITY;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_PROTEIN_KINASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL;GO_LEARNING;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_SIGNAL_RELEASE;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_INVOLVED_IN_CELL_CELL_SIGNALING;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_POSITIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_BEHAVIOR;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_HEMOSTASIS	GO_EXCITATORY_SYNAPSE;GO_NEURON_PROJECTION_TERMINUS;GO_EXOCYTIC_VESICLE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_NEURON_SPINE;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_PRESYNAPTIC_ACTIVE_ZONE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_TRANSPORT_VESICLE;GO_MEMBRANE_REGION;GO_AXON_PART;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	GO_DIACYLGLYCEROL_KINASE_ACTIVITY;GO_GTPASE_INHIBITOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_INHIBITOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_GLYCEROLIPID_METABOLISM;KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	RNA data suggests expression in a selected group of tissues, most abundant in thyroid gland. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000157680-DGKI/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	heart muscle: 1.4	nucleus but not nucleoli	.	PM2
H-	7	138536963	rs117006285	C	T	222	PASS	KIAA1549	KIAA1549 gene	splicing	NM_001164665,NM_020910	NM_001164665:exon17:c.5294+6G>A;NM_020910:exon17:c.5294+6G>A	.	.	ENSG00000122778.9,ENST00000440172.5,ENST00000422774.1	.	7q34	.	.	.	.	.	rs117006285	.	.	0.00830565	0.0079	0.00159744	.	0.00054608	274684	0.00780331	18710	0.00446949	0.00528169	0,0	-0.5159	.	.	.	.	.	.	.	.	.	-0.167	0.820	.	.	.	VDB=0.0834354;SGB=-0.692562;RPB=0.470262;MQB=4.8291e-06;MQSB=0.930788;BQB=0.975367;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=220;DP4=67,18,52,16;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:55:255,0,255:33,22	0/1:44:255,0,255:17,27	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:54:255,0,255:35,19	C	T	0	3	KIAA1549 gene, 613344	.	.	.	18974108|10997877	.	.	.	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic staining combined with cases of membranous positivity. Additional nuclear staining was for example observed in the CNS. Alveolar cells of lung and liver were weakly stained.	http://www.proteinatlas.org/ENSG00000122778-KIAA1549/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 3.9	nuclear membrane; cytoskeleton (intermediate filaments)	.	.
H	7	139106990	rs3757435	C	A	220	PASS	C7orf55-LUC7L2,LUC7L2	Luc7, S. cerevisiae, homolog of, 2	exonic	NM_001244584,NM_001244585,NM_001270643,NM_016019	.	missense SNV	LUC7L2:NM_016019:exon10:c.C1083A:p.D361E,C7orf55-LUC7L2:NM_001244584:exon11:c.C1281A:p.D427E,LUC7L2:NM_001244585:exon11:c.C1074A:p.D358E,LUC7L2:NM_001270643:exon11:c.C1080A:p.D360E	ENST00000354926.8,ENSG00000269955.2,ENST00000541515.3,ENSG00000146963.17,ENST00000498518.1,ENST00000541170.7,ENST00000482860.1,ENST00000263545.7,ENST00000456182.5,ENST00000619796.4	.	7q34	.	.	Score=902;Name=V$USF_Q6	.	.	rs3757435	.	.	0.038206	0.0367	0.00758786	0.0002	0.00276731	277164	0.03446813	18858	0.04100272	0.04929577	.	.	.	0.0,D	0.007,B	0.004,B	.	0.157140,N	1.5,L	1.63,T	12.5635	1.524	4.191	3.019273,22.3	5.14	.	VDB=0.126824;SGB=-0.689466;RPB=0.896394;MQB=6.24875e-07;MQSB=0.996624;BQB=0.740554;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=54;DP4=20,5,13,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:33:.:.	0/1:41:253,0,255:25,16	C	A	0	1	Luc7, S. cerevisiae, homolog of, 2, 613056	.	.	.	17656373	GO_MRNA_SPLICE_SITE_SELECTION;GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_MRNA_METABOLIC_PROCESS;GO_SPLICEOSOMAL_COMPLEX_ASSEMBLY;GO_RNA_SPLICING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_U1_SNRNP;GO_U2_TYPE_SPLICEOSOMAL_COMPLEX;GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART;GO_PRESPLICEOSOME;GO_U2_TYPE_PRESPLICEOSOME;GO_SPLICEOSOMAL_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_SMALL_NUCLEAR_RIBONUCLEOPROTEIN_COMPLEX	GO_MRNA_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	.	.	.	.	.	.	BS1
L-	7	140373628	rs746741219	A	G	222	PASS	ADCK2	.	exonic	NM_052853	.	synonymous SNV	ADCK2:NM_052853:exon1:c.A498G:p.Q166Q	ENST00000489552.1,ENST00000072869.8,ENST00000483369.5,ENSG00000146966.12,ENSG00000133597.10,ENST00000476491.5	.	7q34	.	.	.	.	.	rs746741219	.	.	.	.	.	.	0.00002438	246066	.	.	.	.	.	.	.	.	.	.	1,D	.	.	.	5.899	-0.498	0.492	.	.	.	VDB=0.166765;SGB=-0.693147;RPB=0.316504;MQB=2.97049e-34;MQSB=0.189025;BQB=0.895227;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=304;DP4=78,63,49,67;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:129:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:101:.:.	0/1:257:255,0,255:141,116	A	G	0	1	.	.	.	.	.	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Membranous and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000133597-ADCK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 16.8	cytoplasm; centrosome	.	BP7, PM2
L	7	141747618	rs184251058	A	G	222	PASS	MGAM	Maltase-glucoamylase	exonic	NM_004668	.	synonymous SNV	MGAM:NM_004668:exon22:c.A2532G:p.L844L	ENSG00000257335.8,ENST00000620571.1,ENST00000475668.6,ENST00000549489.6	.	7q34	.	.	.	Score=0.913707;Name=chr7:141771264	.	rs184251058	.	.	0.0265781	0.0278	0.00658946	0.0007	0.00214217	276822	0.02588773	18812	0.01632336	0.01584507	.	1.1219	.	.	.	.	.	.	.	.	.	-0.165	-0.825	.	.	.	VDB=0.519279;SGB=-0.693146;RPB=0.479281;MQB=1.89803e-10;MQSB=0.687614;BQB=0.756903;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=238;DP4=72,26,64,16;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:95:255,0,255:51,44	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:83:255,0,255:47,36	A	G	0	2	Maltase-glucoamylase, 154360	.	.	.	3143729|12547908|9446624	GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_DIGESTION;GO_OLIGOSACCHARIDE_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_POLYSACCHARIDE_METABOLIC_PROCESS;GO_POLYSACCHARIDE_CATABOLIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;GO_GLUCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_APICAL_PART_OF_CELL;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_CARBOHYDRATE_BINDING;GO_GLUCOSIDASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_GALACTOSE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM	.	.	REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_DIGESTION_OF_DIETARY_CARBOHYDRATE	Distinct membranous expression in small intestine and kidney as well as cytoplasmic expression in subsets of leukocytes.	http://www.proteinatlas.org/ENSG00000257335-MGAM/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	bone marrow: 9.2	cytoplasm; nucleus; nuclear membrane	.	BP7
H	7	142983743	rs201123128	A	G	222	PASS	TMEM139	Transmembrane protein 139	exonic	NM_001242773,NM_001242774,NM_001242775,NM_001282876,NM_001282877,NM_153345	.	missense SNV	TMEM139:NM_001282876:exon3:c.A472G:p.R158G,TMEM139:NM_153345:exon3:c.A472G:p.R158G,TMEM139:NM_001242773:exon4:c.A472G:p.R158G,TMEM139:NM_001242775:exon4:c.A472G:p.R158G,TMEM139:NM_001282877:exon4:c.A472G:p.R158G,TMEM139:NM_001242774:exon5:c.A472G:p.R158G	ENST00000359333.7,ENST00000446192.1,ENST00000409102.5,ENSG00000178826.10,ENST00000409541.5,ENST00000427392.1,ENST00000480421.5,ENSG00000231840.1,ENST00000487419.1,ENST00000471161.1,ENST00000409244.5,ENST00000410004.1	.	7q34	.	.	.	.	.	rs201123128	.	.	0.00996678	0.0089	0.00199681	.	0.00053758	277170	0.00646529	18870	0.00796735	0.00617284	.	.	.	0.0,D	0.032,B	0.023,B	1,N	0.013477,N	2.28,M	.	4.226	0.847	0.243	3.646655,23.2	2.19	0.00654438784256	VDB=0.282223;SGB=-0.693147;RPB=0.857626;MQB=1.00145e-19;MQSB=0.998422;BQB=0.362058;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=183;DP4=33,34,38,42;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/1:147:255,0,255:67,80	A	G	0	1	Transmembrane protein 139, 616524	.	.	.	26049106	.	.	.	.	.	.	.	Membranous and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000178826-TMEM139/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 15.0	focal adhesions; plasma membrane	.	.
H	7	143029550	rs202119213	C	T	222	PASS	CLCN1	Chloride channel-1, skeletal muscle	exonic	NM_000083	.	missense SNV	CLCN1:NM_000083:exon11:c.C1205T:p.A402V	ENSG00000188037.10,ENST00000343257.6	.	7q34	.	.	.	.	.	rs202119213	Likely benign|Uncertain significance;Myotonia_congenita|not_specified;RCV000297363.1|RCV000481219.1;MedGen|MedGen;C0027127|CN169374	.	0.00332226	0.003	0.000599042	.	0.00032107	277198	0.00466349	18870	0.00097201	0.00264085	.	0.0693	Chloride channel, core	0.006,D	0.97,D	0.997,D	0.999997,D	0.000000,D	2.525,M	-3.25,D	19.1553	2.533	7.480	7.292066,34	5.39	0.243050542247	VDB=0.904348;SGB=-0.692067;RPB=0.614668;MQB=7.56926e-07;MQSB=0.857723;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=64;DP4=16,13,14,6;MinDP=13;AN=18;AC=1	GT:DP:PL:AD	0/0:13:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:49:255,0,255:29,20	C	T	0	1	Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia levior, recessive (3)	.	Myotonia congenita(CM076109)	GCC-GTC|Ala402Val|c.1205C>T|p.A402V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=17932099&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=23225051&amp;dopt=Abstract)	17932099|23225051|4420758|561337|8855341|12150906|23408874|12661046|15162127|18337100|11796999|10737121|12691663|9122265|7981750|8301644|1379744|9736777|7581380|5971035|7951242|8571958|12150905|7951215|8533761|11196649|11113225|11933197|8845168|22649220|1688667|12456816|1659665|8112288|11840191|9158157|12021248|10644771	GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_TRANSMISSION_OF_NERVE_IMPULSE;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CHLORIDE_TRANSPORT;GO_MUSCLE_CONTRACTION;GO_SYSTEM_PROCESS;GO_REGULATION_OF_ANION_TRANSMEMBRANE_TRANSPORT;GO_ACTION_POTENTIAL;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_ANION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CHLORIDE_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_SARCOLEMMA	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_VOLTAGE_GATED_ANION_CHANNEL_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CHANNEL_ACTIVITY;GO_VOLTAGE_GATED_CHLORIDE_CHANNEL_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188037-CLCN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 0.6	.	.	BP6, PM1, PM2, PP2, PP3, PP5
L	7	143091416	rs201338212	A	G	222	PASS	EPHA1	eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1)	exonic	NM_005232	.	synonymous SNV	EPHA1:NM_005232:exon15:c.T2373C:p.R791R	ENST00000465208.5,ENST00000488068.5,ENSG00000146904.8,ENST00000275815.3	.	7q34	.	.	.	.	.	rs201338212	.	.	0.00332226	0.003	0.000599042	.	0.00022743	277014	0.00333899	18868	0.00097163	0.00176056	.	-0.1602	.	.	.	.	.	.	.	.	.	-3.522	-1.052	.	.	.	VDB=0.00228947;SGB=-0.693146;RPB=0.998858;MQB=6.59356e-15;MQSB=0.996456;BQB=0.938387;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=131;DP4=27,25,21,23;MinDP=49;AN=18;AC=1	GT:DP:PL:AD	0/0:49:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:96:255,0,255:52,44	A	G	0	1	eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1), 179610	.	.	.	9267020|10958785|3221865|19759535	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_EPHRIN_RECEPTOR_SIGNALING_PATHWAY;GO_MAINTENANCE_OF_CELL_NUMBER;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_EPHRIN_RECEPTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE	PID_EPHA_FWDPATHWAY	.	.	Most of the normal tissues showed moderate to strong cytoplasmic and membranous positivity. Salivary gland, glomeruli, endometrial stroma and a subset of cells in CNS showed weak staining.	http://www.proteinatlas.org/ENSG00000146904-EPHA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 14.7	.	.	BP7, PM2
H	7	149430438	rs376516900	C	G	222	PASS	KRBA1	.	exonic	NM_001290187,NM_032534	.	unknown	UNKNOWN	ENST00000496259.5,ENST00000621069.1,ENSG00000133619.17,ENST00000485033.6,ENST00000319551.12	.	7q36.1	.	.	.	.	.	rs376516900	.	.	0.0282392	0.0268	0.00559105	.	0.00215179	272332	0.03097629	18724	0.01554606	0.01590106	.	.	.	0.0,D	0.963,D	0.999,D	0.999997,N	0.006006,N	.	0.74,T	8.3118	0.133	-0.247	4.338823,24.0	.	.	VDB=0.0882082;SGB=-0.693147;RPB=0.256184;MQB=1.09335e-18;MQSB=0.117721;BQB=0.615838;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=156;DP4=45,14,35,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:94:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:123:255,0,255:59,64	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal cells displayed moderate cytoplasmic positivity which in a few cases was combined with nuclear staining. Strong cytoplasmic positivity was observed in glial cells and a subset of intestinal cells. Bile ducts, kidney, squamous epithelia and female genitals were mostly negative.	http://www.proteinatlas.org/ENSG00000133619-KRBA1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	heart muscle: 7.0	nucleus; cytoplasm	.	.
H	7	149475053	rs118190970	C	T	222	PASS	SSPO	Subcommissural organ spondin	exonic	NM_198455	.	missense SNV	SSPO:NM_198455:exon6:c.C754T:p.P252S	ENSG00000197558.11,ENST00000378016.4,ENST00000486824.3,ENST00000623373.3	.	7q36.1	.	.	.	.	.	rs118190970	.	.	0.0182724	0.0179	0.00399361	.	0.00110757	276280	0.01368410	18854	0.01068791	0.01060071	.	-0.3198	von Willebrand factor, type D domain	.	.	.	.	.	.	.	.	0.140	-0.107	0.943829,10.34	2.18	.	VDB=0.945434;SGB=-0.693146;RPB=0.999633;MQB=1.6086e-15;MQSB=0.935507;BQB=0.977474;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=127;DP4=33,26,28,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:102:255,0,255:59,43	C	T	0	1	Subcommissural organ spondin, 617356	.	.	.	11008217|15053980|12909363|17126404	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEOLYSIS;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY	.	PID_FANCONI_PATHWAY;PID_NOTCH_PATHWAY;PID_NFKAPPAB_ATYPICAL_PATHWAY;PID_BETA_CATENIN_DEG_PATHWAY;PID_NFKAPPAB_CANONICAL_PATHWAY;PID_ATR_PATHWAY;PID_PS1_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_MTOR_4PATHWAY;PID_PLK1_PATHWAY;PID_HEDGEHOG_GLI_PATHWAY;PID_BETA_CATENIN_NUC_PATHWAY;PID_TAP63_PATHWAY	.	.	.	.	.	.	.	.	PM1
H	7	150217291	.	A	G	222	PASS	GIMAP7	GTPase IMAP family, member 7	exonic	NM_153236	.	missense SNV	GIMAP7:NM_153236:exon2:c.A229G:p.T77A	ENSG00000179144.4,ENST00000313543.4	.	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AIG1-type guanine nucleotide-binding (G) domain;P-loop containing nucleoside triphosphate hydrolase	0.0,D	1.0,D	1.0,D	1,N	0.000385,D	2.29,M	0.15,T	10.883	2.159	0.245	3.536112,23.1	4.77	0.0394091039313	VDB=0.074443;SGB=-0.693146;RPB=0.557554;MQB=2.1113e-15;MQSB=0.999993;BQB=0.384613;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=119;DP4=28,24,25,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:82:.:.	0/0:61:.:.	0/0:81:.:.	0/0:79:.:.	0/0:50:.:.	0/0:50:.:.	0/0:81:.:.	0/1:96:255,0,255:52,44	A	G	0	1	GTPase IMAP family, member 7, 616961	.	.	.	15474311|23454188	.	GO_LIPID_PARTICLE	GO_GTPASE_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_IDENTICAL_PROTEIN_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in several different cell types, most abundant in lymphoid cells.	http://www.proteinatlas.org/ENSG00000179144-GIMAP7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 138.1	.	.	PM1, PM2
H-	7	150327195	rs117935084	C	A	195	PASS	GIMAP6	GTPase, IMAP family, member 6	exonic	NM_001244071,NM_001244072,NM_024711	.	missense SNV	GIMAP6:NM_001244071:exon2:c.G36T:p.E12D,GIMAP6:NM_001244072:exon2:c.G36T:p.E12D,GIMAP6:NM_024711:exon2:c.G36T:p.E12D	ENST00000493969.2,ENST00000328902.9,ENST00000618759.4,ENSG00000133561.15	.	7q36.1	.	.	.	.	.	rs117935084	.	.	0.0166113	0.0149	0.00958466	0.0006	0.01178699	239162	0.00784366	15044	0.01225681	0.01232394	.	-2.9260	.	0.0,D	0.003,B	0.002,B	1,N	.	0.46,N	3.35,T	5.23	0.264	-0.561	.	.	.	VDB=0.702192;SGB=-0.692562;RPB=0.744193;MQB=8.43653e-05;MQSB=0.664732;BQB=0.965217;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=45;DP4=14,2,20,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:28:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:32:.:.	0/0:10:.:.	0/0:30:.:.	0/1:38:228,0,206:16,22	C	A	0	1	GTPase, IMAP family, member 6, 616960	.	.	.	15474311|23454188	.	.	GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	Normal cells showed weak to moderate cytoplasmic positivity with additional nuclear staining in for example glomeruli, placenta and CNS. Skeletal and heart muscle exhibited distinct membranous staining.	http://www.proteinatlas.org/ENSG00000133561-GIMAP6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 54.3	.	.	BP4
H	7	150733688	rs570558146	CAG	C	222	PASS	ABCB8	ATP-binding cassette, subfamily B, member 8	exonic	NM_001282291,NM_001282292,NM_001282293,NM_007188	.	frameshift deletion	ABCB8:NM_001282293:exon8:c.906_907del:p.T302fs,ABCB8:NM_001282292:exon9:c.1170_1171del:p.T390fs,ABCB8:NM_007188:exon9:c.1170_1171del:p.T390fs,ABCB8:NM_001282291:exon10:c.1221_1222del:p.T407fs	ENST00000470645.5,ENST00000477092.5,ENST00000358849.8,ENST00000542328.5,ENST00000466514.5,ENST00000477719.5,ENST00000491920.1,ENST00000482309.5,ENST00000498578.5,ENST00000297504.10,ENSG00000197150.12	.	7q36.1	.	.	.	.	.	rs570558146	.	.	.	.	.	.	0.00005842	273886	0.00015902	18866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.596844,35	.	.	INDEL;VDB=0.000640747;SGB=-0.693127;MQSB=0.643663;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=78;DP4=14,21,16,17;IDV=35;IMF=0.448718;MinDP=50;AN=16;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	./.:.:.:.	0/1:68:255,0,255:35,33	CAG	C	0	1	ATP-binding cassette, subfamily B, member 8, 605464	.	.	.	8894702|9878413	GO_TRANSMEMBRANE_TRANSPORT	GO_ORGANELLE_INNER_MEMBRANE;GO_ATPASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_ENVELOPE;GO_NUCLEOLUS;GO_MITOCHONDRIAL_ENVELOPE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic and nuclear staining.	http://www.proteinatlas.org/ENSG00000197150-ABCB8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 9.6	mitochondria; nucleus	.	PM2
H	7	150935124	rs28774985	C	A	222	PASS	CHPF2	Chondroitin polymerizing factor 2	exonic	NM_001284295,NM_019015	.	missense SNV	CHPF2:NM_019015:exon4:c.C1676A:p.T559K,CHPF2:NM_001284295:exon5:c.C1652A:p.T551K	ENSG00000033100.16,ENST00000035307.6,ENST00000495645.5	.	7q36.1	.	.	Score=792;Name=V$OLF1_01	.	.	rs28774985	.	.	0.00498339	0.004	0.000798722	.	0.00057401	275258	0.00818278	18820	0.01185387	0.01144366	.	.	.	0.143,T	0.045,B	0.154,B	0.769678,N	0.018237,N	-0.695,N	2.48,T	10.3665	2.488	4.778	2.352590,18.51	4.8	0.00469033300475	VDB=0.465795;SGB=-0.693147;RPB=0.856481;MQB=4.94008e-27;MQSB=0.160319;BQB=0.314712;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=399;DP4=121,31,104,34;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:105:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:106:.:.	0/0:101:.:.	0/1:290:255,0,255:152,138	C	A	0	1	Chondroitin polymerizing factor 2, 608037	.	.	.	12145278|10718198	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_STACK;GO_GOLGI_CISTERNA;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS;GO_GOLGI_CISTERNA_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	GO_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GLUCURONOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000033100-CHPF2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 16.0	nucleus; cytoplasm	.	.
H	7	156447342	rs554840615	G	A	222	PASS	RNF32	RING finger protein 32	exonic	NM_001184996,NM_001184997,NM_001308273,NM_001308274,NM_030936	.	missense SNV	RNF32:NM_001308274:exon3:c.G347A:p.R116H,RNF32:NM_001184996:exon4:c.G347A:p.R116H,RNF32:NM_001184997:exon4:c.G347A:p.R116H,RNF32:NM_001308273:exon4:c.G347A:p.R116H,RNF32:NM_030936:exon4:c.G347A:p.R116H	ENST00000455709.1,ENST00000311822.12,ENST00000392743.6,ENST00000317955.9,ENST00000392741.6,ENST00000469382.1,ENST00000404282.6,ENSG00000224903.1,ENST00000392747.6,ENST00000480011.5,ENST00000472537.5,ENSG00000105982.16,ENST00000432459.6,ENST00000405335.5	.	7q36.3	.	.	.	.	.	rs554840615	.	.	0	.	0.000199681	.	0.00007214	277222	0.00026500	18868	0.00019433	.	.	-2.6433	.	0.004,D	0.931,D	1.0,D	1,D	0.000000,D	2.825,M	-3.05,D	18.6687	2.505	7.473	5.933657,27.6	5.34	0.140990626485	VDB=0.542707;SGB=-0.692914;RPB=0.95215;MQB=6.42306e-07;MQSB=0.160669;BQB=0.702383;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=77;DP4=25,6,13,12;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:56:255,0,255:31,25	G	A	0	1	RING finger protein 32, 610241	.	.	.	11890671	.	GO_AGGRESOME;GO_VACUOLE;GO_INCLUSION_BODY;GO_ENDOSOME	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000105982-RNF32/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 2.7	.	.	PM2, PP3
H	8	2024280	rs117189614	G	A	222	PASS	MYOM2	Myomesin 2	exonic	NM_003970	.	missense SNV	MYOM2:NM_003970:exon11:c.G1180A:p.A394T	ENST00000523438.1,ENSG00000036448.9,ENST00000262113.8	.	8p23.3	.	.	Score=769;Name=V$TCF11MAFG_01	.	.	rs117189614	.	.	0.0299003	0.0218	0.00479233	0.0002	0.00213320	275642	0.02972140	18808	0.03148076	0.03345070	.	0.3353	Fibronectin type III;Immunoglobulin-like fold	0.017,D	0.653,P	0.976,D	1,D	0.000131,D	1.315,L	0.45,T	19.1389	2.509	5.112	5.943292,27.6	5.38	.	VDB=0.00511596;SGB=-0.693147;RPB=0.696209;MQB=1.14531e-17;MQSB=0.990058;BQB=0.946384;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=174;DP4=43,11,59,18;MinDP=54;AN=18;AC=1	GT:DP:PL:AD	0/0:54:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:131:255,0,255:54,77	G	A	0	1	Myomesin 2, 603509	.	.	.	9933576|7505783	GO_MUSCLE_CONTRACTION;GO_SYSTEM_PROCESS;GO_MUSCLE_SYSTEM_PROCESS	GO_ACTIN_CYTOSKELETON;GO_M_BAND;GO_MYOSIN_FILAMENT;GO_CONTRACTILE_FIBER;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_MITOCHONDRION;GO_A_BAND	GO_STRUCTURAL_CONSTITUENT_OF_MUSCLE;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression, high in myocytes.	http://www.proteinatlas.org/ENSG00000036448-MYOM2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 11.4	mitochondria; nucleus but not nucleoli; cytoplasm	.	BS1, PM1, PP3
M	8	10387034	rs748699699	A	G	222	PASS	PRSS55	Protease, serine, 55	exonic	NM_001197020,NM_198464	.	missense SNV	PRSS55:NM_001197020:exon2:c.A172G:p.I58V,PRSS55:NM_198464:exon2:c.A172G:p.I58V	ENST00000518641.1,ENST00000328655.7,ENST00000523024.1,ENSG00000184647.10,ENST00000522210.1,ENST00000637190.1,ENSG00000253649.3	.	8p23.1	.	.	.	.	.	rs748699699	.	.	.	.	.	.	0.00006494	277172	.	.	.	.	.	0.0631	Trypsin-like cysteine/serine peptidase domain	0.524,T	0.004,B	0.015,B	1,N	.	0.895,L	-2.29,D	9.0716	-2.479	-1.362	.	.	0.0225150764565	VDB=0.128717;SGB=-0.693146;RPB=0.84019;MQB=8.09728e-13;MQSB=0.475913;BQB=0.728382;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=118;DP4=44,14,35,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/1:100:255,0,255:58,42	A	G	0	1	Protease, serine, 55, 615144	.	.	.	18844450	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Normal tissues showed a differential cytoplasmic staining pattern. Intestinal tract, placenta and gall bladder exhibited strong immunoreactivity. Alveolar cells, renal glomeruli, ovary, the CNS and lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000184647-PRSS55/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 0.1	.	.	BP4, PM1, PM2
L	8	11058669	rs373654870	G	A	222	PASS	XKR6	.	exonic	NM_173683	.	synonymous SNV	XKR6:NM_173683:exon1:c.C180T:p.C60C	ENST00000416569.2,ENST00000297303.4,ENSG00000171044.10	CpG: 20	8p23.1	.	.	.	.	.	rs373654870	.	.	0.00166113	0.004	0.000798722	.	0.00072917	146742	0.01016063	10334	0.00505837	0.00442478	.	.	.	.	.	.	.	.	.	.	.	1.609	3.844	.	3.43	.	VDB=0.339039;SGB=-0.693097;RPB=0.777898;MQB=8.3755e-11;MQSB=0.399741;BQB=0.928447;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=22,11,15,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:53:.:.	0/0:54:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:63:255,0,255:33,30	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic staining combined with a few nuclear satining. Spleen, skeletal muscle and cells in CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000171044-XKR6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 0.7	.	.	.
H	8	17793095	rs772434911	C	T	165	PASS	PCM1	Pericentriolar material 1	splicing	NM_001315507,NM_001315508,NM_006197	NM_001315507:exon3:UTR5;NM_001315508:exon3:UTR5;NM_006197:exon3:UTR5	.	.	ENST00000518930.1,ENSG00000078674.17,ENST00000325083.12,ENST00000518936.5,ENST00000517730.5,ENST00000524226.5,ENST00000518537.5,ENST00000519253.5,ENST00000523055.5,ENST00000327578.9	.	8p22	.	.	.	.	.	rs772434911	.	.	.	.	.	.	0.00006555	228832	0.00091687	16360	0.00019433	.	0.0018,0.212	0.2194	.	.	.	.	.	.	.	.	.	0.137	0.848	.	.	.	VDB=0.309523;SGB=-0.680642;RPB=0.966813;MQB=0.00134011;MQSB=0.82972;BQB=0.582748;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=32;DP4=10,2,11,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:198,0,220:12,12	C	T	0	1	Pericentriolar material 1, 600299	.	.	.	8120099|10980597|12403812|20360304|18772192|10579718|7698772|22767577	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION_TO_CYTOSKELETON;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_CYTOPLASMIC_MICROTUBULE_ORGANIZATION;GO_CELL_PART_MORPHOGENESIS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_MICROTUBULE_ANCHORING;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_PROTEIN_LOCALIZATION_TO_CENTROSOME;GO_CELL_PROLIFERATION_IN_FOREBRAIN;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MICROTUBULE_BASED_PROCESS;GO_FOREBRAIN_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELL_MOTILITY;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_MITOTIC_CELL_CYCLE;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_CELL_PROLIFERATION;GO_CILIUM_ORGANIZATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_LOCOMOTION;GO_NUCLEUS_LOCALIZATION;GO_ORGANELLE_ASSEMBLY;GO_PROTEIN_TRANSPORT_ALONG_MICROTUBULE;GO_MAINTENANCE_OF_CELL_NUMBER;GO_NEURON_MIGRATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_HEAD_DEVELOPMENT;GO_NEURONAL_STEM_CELL_POPULATION_MAINTENANCE;GO_CELL_CYCLE;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_NONMOTILE_PRIMARY_CILIUM_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION	GO_NUCLEAR_ENVELOPE;GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_ENVELOPE;GO_PRIMARY_CILIUM;GO_PERICENTRIOLAR_MATERIAL;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_NUCLEAR_MEMBRANE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_CILIUM;GO_CILIARY_BASAL_BODY;GO_CENTRIOLAR_SATELLITE	GO_IDENTICAL_PROTEIN_BINDING	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	Distinct dot-like expression in lymphoid tissues, bone marrow and oocytes. High abundance in ciliated cells along with additional cytoplasmic expression in several several other tissues.	http://www.proteinatlas.org/ENSG00000078674-PCM1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 128.2	centrosome; nuclear membrane; cytoplasm	.	PM2
H	8	19796956	.	A	T	222	PASS	LPL	Lipoprotein lipase	exonic	NM_000237	.	missense SNV	LPL:NM_000237:exon1:c.A5T:p.E2V	ENSG00000175445.14,ENST00000311322.8,ENST00000520959.5,ENST00000524029.5,ENST00000522701.5,ENST00000523696.1,ENST00000519773.1,ENST00000521994.1	CpG: 112	8p21.3	.	.	Score=892;Name=V$YY1_01	.	.	.	.	.	.	.	.	.	0.00001511	264700	0.00021770	18374	0.00019433	.	.	.	.	0.001,D	0.312,B	0.822,P	0.986313,N	0.559233,N	1.7,L	-1.26,T	3.759	0.363	1.287	3.358531,22.9	.	0.180498970272	VDB=0.328011;SGB=-0.693143;RPB=0.938301;MQB=1.40854e-08;MQSB=0.811975;BQB=0.277777;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=92;DP4=35,1,35,3;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/1:74:255,0,255:36,38	A	T	0	1	Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant; [High density lipoprotein cholesterol level QTL 11] (3); Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive	.	.	.	2010533|19060911|2110364|8778602|8755931|1576758|10735636|10517255|8567671|18344982|1530621|9683608|11683775|23008484|1937490|8872057|2765475|2294743|1702428|8093617|2349938|1969408|1907278|9430364|17006673|2891110|2896338|11334614|8636438|17032721|15928243|1752947|1562620|2121025|1400331|8288243|2888089|1673959|9714430|1351946|8858123|1674945|11134145|1598907|9550358|18354102|16174715|18583709|21909109|2602366|3597382|1731801|8096693|2536938|7635990|2895912|12679477|7818530|15356086|2038366|7906986|8486765|1639392|9401010|8449037|8432854|1975597|9662394|1511985|1872917|8135797|15840743|8541837|23246289|11260209|3692485|17952847|1512512|1737848|8675619|6645961|2394828|8325986|3823907|16418216|9120004|10364086|8099055|12569168|15127290|7753827|16460682	GO_ACYLGLYCEROL_HOMEOSTASIS;GO_REGULATION_OF_LIPID_STORAGE;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_COLD;GO_STEROL_HOMEOSTASIS;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_LIPID_HOMEOSTASIS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_SEQUESTERING_OF_TRIGLYCERIDE;GO_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MACROMOLECULAR_COMPLEX_REMODELING;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_CHEMOKINE_SECRETION;GO_TERPENOID_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEUTRAL_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_CHEMOKINE_PRODUCTION;GO_PROTEIN_LIPID_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CHEMOKINE_PRODUCTION;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_POSITIVE_REGULATION_OF_CYTOKINE_SECRETION;GO_RESPONSE_TO_CARBOHYDRATE;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_TRIGLYCERIDE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_DRUG;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_CHOLESTEROL_STORAGE;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_LIPID_STORAGE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_SECRETION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_ISOPRENOID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION	GO_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_PROTEIN_LIPID_COMPLEX;GO_ANCHORED_COMPONENT_OF_MEMBRANE;GO_CHYLOMICRON;GO_TRIGLYCERIDE_RICH_LIPOPROTEIN_PARTICLE	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_GLYCOSAMINOGLYCAN_BINDING;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY;GO_APOLIPOPROTEIN_BINDING;GO_LIPID_BINDING;GO_RECEPTOR_BINDING;GO_PHOSPHOLIPASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE	.	BIOCARTA_PPARA_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	.	http://www.proteinatlas.org/ENSG00000175445-LPL/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 47.6	vesicles	.	PP2
L	8	21827704	rs189823406	C	T	145	PASS	XPO7	Exportin 7	exonic	NM_015024	.	synonymous SNV	XPO7:NM_015024:exon4:c.C309T:p.F103F	ENST00000252512.13,ENST00000521303.5,ENST00000518017.1,ENSG00000130227.16,ENST00000433566.8	.	8p21.3	.	.	Score=856;Name=V$CREB_Q2	.	.	rs189823406	.	.	0.0365449	0.0377	0.0081869	0.0002	0.00204828	276818	0.02562334	18850	0.01127089	0.01848592	.	-0.1694	.	.	.	.	1,D	.	.	.	14.9263	-1.151	-1.666	2.156842,17.23	.	.	VDB=0.510154;SGB=-0.556411;RPB=0.868321;MQB=0.124046;MQSB=1;BQB=0.868321;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=34;DP4=7,4,13,0;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:110,0,120:8:4,4	0/0:.:11:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:27:.	0/0:.:10:.	0/1:178,0,179:16:7,9	C	T	0	2	Exportin 7, 606140	.	.	.	11071879|11024021|9872452	GO_PROTEIN_EXPORT_FROM_NUCLEUS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NUCLEAR_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_NUCLEAR_EXPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_RNA_LOCALIZATION	GO_NUCLEAR_ENVELOPE;GO_ENVELOPE;GO_NUCLEAR_PORE	GO_RAN_GTPASE_BINDING;GO_NUCLEOCYTOPLASMIC_TRANSPORTER_ACTIVITY;GO_PROTEIN_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Mainly cytoplasmic expression with highest levels in brain.	http://www.proteinatlas.org/ENSG00000130227-XPO7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 36.5	nucleus	.	BP7
H	8	22422866	rs548045720	A	G	222	PASS	SORBS3	Sorbin and SH3 domains-containing 3	exonic	NM_005775	.	missense SNV	SORBS3:NM_005775:exon11:c.A902G:p.K301R	ENST00000518512.5,ENST00000517500.5,ENSG00000120896.13,ENST00000522315.5,ENST00000519453.3,ENST00000521787.5,ENST00000517535.5,ENST00000523900.5,ENST00000240123.11,ENST00000523740.5,ENST00000520574.1	CpG: 118	8p21.3	.	.	.	.	.	rs548045720	.	.	0.00332226	0.003	0.000599042	.	0.00013642	175930	0.00169033	11832	0.00369219	0.00264550	1.0000,0.996	-10.8769	.	0.011,D	0.04,B	0.281,B	1,D	0.023301,U	1.845,L	3.23,T	10.4985	1.724	3.855	1.893770,15.55	4.66	0.0275506872205	VDB=0.0512758;SGB=-0.693143;RPB=0.77551;MQB=7.1674e-11;MQSB=0.975335;BQB=0.944113;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=109;DP4=15,33,10,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:86:255,0,255:48,38	A	G	0	1	Sorbin and SH3 domains-containing 3, 610795	.	.	.	9885244|16923119|11825889	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MUSCLE_CONTRACTION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MUSCLE_SYSTEM_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIN_FILAMENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	Moderate cytoplasmic and membranous immunoreactivity was observed in the gastrointestinal tract and male genital tract. Heart muscle and skeletal muscle showed strong positivity. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000120896-SORBS3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 122.4	nucleus but not nucleoli; focal adhesions	.	PM2, PP3
H	8	22426781	rs540462491	C	T	222	PASS	SORBS3	Sorbin and SH3 domains-containing 3	exonic	NM_001018003,NM_005775	.	missense SNV	SORBS3:NM_001018003:exon6:c.C400T:p.R134C,SORBS3:NM_005775:exon17:c.C1426T:p.R476C	ENSG00000120896.13,ENST00000523965.5,ENST00000523348.1,ENST00000521554.4,ENST00000517535.5,ENST00000523900.5,ENST00000240123.11,ENST00000523740.5	.	8p21.3	.	.	.	.	.	rs540462491	.	.	0.00332226	0.003	0.000599042	.	0.00025414	259704	0.00279363	16824	0.00369219	0.00264085	.	-0.9512	SH3 domain	0.0,D	0.592,P	0.968,D	0.999999,D	0.019472,N	1.735,L	0.69,T	13.0891	1.334	1.943	7.631160,35	4.69	0.063286014016	VDB=0.00782482;SGB=-0.693097;RPB=0.872525;MQB=0.000135027;MQSB=0.571551;BQB=0.574311;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=62;DP4=5,19,5,25;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:32:.:.	0/0:50:.:.	0/0:10:.:.	0/0:36:.:.	0/0:31:.:.	0/0:21:.:.	0/0:37:.:.	0/1:54:255,0,255:24,30	C	T	0	1	Sorbin and SH3 domains-containing 3, 610795	.	.	.	9885244|16923119|11825889	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MUSCLE_CONTRACTION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MUSCLE_SYSTEM_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ACTIN_FILAMENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	Moderate cytoplasmic and membranous immunoreactivity was observed in the gastrointestinal tract and male genital tract. Heart muscle and skeletal muscle showed strong positivity. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000120896-SORBS3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 122.4	nucleus but not nucleoli; focal adhesions	.	PM1, PM2, PP3
H	8	23294491	rs117655902	T	C	225	PASS	ENTPD4	Ectonucleoside triphosphate diphosphohydrolase 4	exonic	NM_001128930,NM_004901	.	missense SNV	ENTPD4:NM_001128930:exon10:c.A1306G:p.M436V,ENTPD4:NM_004901:exon10:c.A1330G:p.M444V	ENST00000523958.5,ENSG00000197217.12,ENST00000358689.8,ENST00000522913.1,ENST00000518471.5,ENST00000356206.10,ENST00000417069.6	.	8p21.3	.	.	Score=820;Name=V$BRN2_01	.	.	rs117655902	.	.	0.00332226	0.006	0.00119808	.	0.00040239	275850	0.00588797	18852	0.00505247	0.01144366	.	-0.4591	.	0.108,T	0.017,B	0.045,B	0.999997,D	0.000000,D	2.005,M	2.85,T	14.5787	2.125	6.255	1.517272,13.40	5.59	0.00756324488295	VDB=0.367244;SGB=-0.693147;MQSB=1;MQ0F=0;MQ=46;DP=85;DP4=0,0,52,15;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	1/1:67:255,199,0:0,66	T	C	1	0	Ectonucleoside triphosphate diphosphohydrolase 4, 607577	.	.	.	9205841|9556635	GO_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_RIBONUCLEOTIDE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_CATABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_CATABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOTIDE_CATABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOTIDE_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_CATABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RIBONUCLEOSIDE_CATABOLIC_PROCESS;GO_RIBONUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS	GO_AUTOPHAGOSOME;GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_VACUOLE;GO_GOLGI_APPARATUS_PART;GO_INTRACELLULAR_VESICLE;GO_INTRINSIC_COMPONENT_OF_GOLGI_MEMBRANE;GO_GOLGI_MEMBRANE;GO_VACUOLAR_PART;GO_AUTOPHAGOSOME_MEMBRANE;GO_GOLGI_APPARATUS;GO_VACUOLAR_MEMBRANE	GO_NUCLEOSIDE_DIPHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES	KEGG_PURINE_METABOLISM;KEGG_PYRIMIDINE_METABOLISM;KEGG_LYSOSOME	.	.	.	Cytoplasmic expression with a granular pattern in several tissues.	http://www.proteinatlas.org/ENSG00000197217-ENTPD4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 25.7	vesicles	.	.
H	8	24197044	rs147269596	C	T	222	PASS	ADAM28	A disintegrin and metalloproteinase domain 28	exonic	NM_001304351,NM_014265	.	missense SNV	ADAM28:NM_001304351:exon15:c.C1633T:p.R545C,ADAM28:NM_014265:exon15:c.C1633T:p.R545C	ENST00000521629.5,ENST00000265769.8,ENST00000520448.5,ENSG00000253535.5,ENSG00000042980.12,ENST00000519689.1,ENST00000523700.5,ENST00000523578.5,ENST00000518988.5	.	8p21.2	.	.	.	.	.	rs147269596	.	.	0.00996678	0.0119	0.00239617	.	0.00050120	275338	0.00666098	18766	0.00505247	0.00088028	.	-0.0309	ADAM, cysteine-rich	0.001,D	0.745,P	0.998,D	0.999994,N	.	2.925,M	1.86,T	11.0157	1.559	1.506	5.323246,25.8	4.13	.	VDB=0.0390463;SGB=-0.686358;RPB=0.173824;MQB=7.29155e-05;MQSB=0.804333;BQB=0.60793;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=43;DP4=12,4,8,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:30:255,0,255:16,14	C	T	0	1	A disintegrin and metalloproteinase domain 28, 606188	.	.	.	12037602|11724793|10587367|10506182	GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	PID_INTEGRIN_A4B1_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000042980-ADAM28/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 37.3	.	.	PM1
H	8	24304703	rs201059242	C	T	90	PASS	ADAM7	A disintegrin and metalloproteinase domain 7	exonic	NM_003817	.	missense SNV	ADAM7:NM_003817:exon3:c.C161T:p.T54M	ENST00000441335.6,ENSG00000253535.5,ENST00000175238.10,ENST00000519689.1,ENST00000523578.5,ENST00000380789.5,ENSG00000069206.15	.	8p21.2	.	.	.	.	.	rs201059242	.	.	0.00996678	0.0079	0.00179712	0.0002	0.00028522	255944	0.00346227	16752	0.00174893	.	.	-0.5217	Peptidase M12B, propeptide	0.017,D	0.039,B	0.262,B	1,N	0.055047,N	1.67,L	3.32,T	3.6481	-0.729	-1.528	.	.	0.00403244030245	VDB=0.565215;SGB=-0.616816;RPB=0.987428;MQB=0.00139213;MQSB=0.908551;BQB=0.848769;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=34;DP4=10,9,4,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:25:124,0,255:19,6	C	T	0	1	A disintegrin and metalloproteinase domain 7, 607310	.	.	.	12037602	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Cytoplasmic and membranous expression in epididymis.	http://www.proteinatlas.org/ENSG00000069206-ADAM7/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.4	.	.	BP4, PM1
L	8	25249475	rs749321041	G	A	222	PASS	DOCK5	Dedicator of cytokinesis 5	exonic	NM_024940	.	synonymous SNV	DOCK5:NM_024940:exon43:c.G4419A:p.K1473K	ENSG00000147459.17,ENST00000463457.1,ENST00000467709.6,ENST00000276440.11	.	8p21.2	.	.	.	.	.	rs749321041	.	.	.	.	.	.	0.00002168	276804	0.00031878	18822	.	.	.	0.1259	.	.	.	.	.	.	.	.	.	0.542	0.341	1.508603,13.36	3	.	VDB=0.00190498;SGB=-0.692067;RPB=0.710943;MQB=4.17785e-06;MQSB=0.294848;BQB=0.50373;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=66;DP4=12,16,5,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/1:48:255,0,255:28,20	G	A	0	1	Dedicator of cytokinesis 5, 616904	.	.	.	19004829	GO_CIRCULATORY_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_VASOCONSTRICTION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_BLOOD_CIRCULATION	.	GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR	.	.	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	Lymphoid cells displayed strong cytoplasmic immunoreactivity. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000147459-DOCK5/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 10.5	cytoplasm	.	PM2
L	8	27362587	rs57699806	G	A	222	PASS	EPHX2	Epoxide hydrolase 2, cytoplasmic	exonic	NM_001256482,NM_001256483,NM_001256484,NM_001979	.	missense SNV	EPHX2:NM_001256483:exon3:c.G263A:p.C88Y,EPHX2:NM_001256482:exon4:c.G302A:p.C101Y,EPHX2:NM_001256484:exon4:c.G302A:p.C101Y,EPHX2:NM_001979:exon4:c.G461A:p.C154Y	ENST00000518328.5,ENST00000518379.5,ENST00000520666.1,ENST00000520623.5,ENST00000521924.1,ENST00000517536.5,ENST00000521684.1,ENST00000521780.5,ENST00000380476.7,ENST00000521400.5,ENSG00000120915.13	.	8p21.2	.	.	Score=918;Name=V$MEIS1_01	.	.	rs57699806	.	.	0.0697674	0.0605	0.0127796	0.0005	0.00356169	277116	0.04627372	18866	0.03556160	0.03257042	.	0.1950	HAD-like domain;Phosphoglycolate phosphatase, domain 2;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal	0.0,D	1.0,D	1.0,D	1,D	0.000000,D	3.11,M	3.0,T	17.3726	2.777	3.516	4.527129,24.3	5.56	.	VDB=0.912334;SGB=-0.692717;RPB=0.692561;MQB=6.7664e-05;MQSB=0.130302;BQB=0.713207;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=252;DP4=68,22,70,19;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:54:255,0,255:31,23	0/1:52:255,0,255:25,27	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:73:255,0,255:34,39	G	A	0	3	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal dominant	.	Increased enzyme activity(CM033769)	TGT-TAT|Cys154Tyr|c.461G>A|p.C154Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=12869654&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=15196990&amp;dopt=Abstract)	12869654|15196990|8342951|14732757|16115816|7915936|7868134|18443590|2592558|15845398|12869654|10862610|8619856|14673705|12522687|1809223	GO_LIPID_MODIFICATION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CHEMICAL_HOMEOSTASIS;GO_CIRCULATORY_SYSTEM_PROCESS;GO_REGULATION_OF_VASODILATION;GO_STEROL_HOMEOSTASIS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_LIPID_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_VASODILATION;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_SYSTEM_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_DRUG_METABOLIC_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_ION_HOMEOSTASIS;GO_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_REGULATION_OF_CHOLESTEROL_METABOLIC_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_SECONDARY_METABOLIC_PROCESS;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_CELLULAR_HOMEOSTASIS;GO_EPOXYGENASE_P450_PATHWAY;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_BLOOD_CIRCULATION	GO_MICROBODY	GO_MAGNESIUM_ION_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_TOXIC_SUBSTANCE_BINDING;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RECEPTOR_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ETHER_BONDS	KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_PEROXISOME	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000120915-EPHX2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 109.9	cytoplasm	.	BS1, BS2, PM1, PP3
L	8	27668469	rs2272692	T	C	129	PASS	PBK	PDZ-binding kinase	splicing	NM_001278945,NM_018492	NM_001278945:exon7:c.805+6A>G;NM_018492:exon7:c.772+6A>G	.	.	ENSG00000171320.14,ENST00000522944.5,ENSG00000168078.9,ENST00000522378.5,ENST00000524266.1,ENST00000301905.8	.	8p21.1	.	.	.	.	.	rs2272692	.	.	0.0265781	0.0278	0.0245607	0.0161	0.00805889	275224	0.02424918	18846	0.02331908	0.03703704	0,0	0.0747	.	.	.	.	.	.	.	.	.	0.466	0.143	.	.	.	VDB=0.254138;SGB=-0.683931;RPB=0.893124;MQB=0.00199437;BQB=0.447639;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=24;DP4=7,0,13,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:20:162,0,148:7,13	T	C	0	1	PDZ-binding kinase, 611210	.	.	.	10781613|17160018|16291951|10779557|15541388|17482142|16982762|11783945	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_CELLULAR_RESPONSE_TO_UV;GO_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_RESPONSE_TO_UV;GO_RESPONSE_TO_RADIATION;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_RADIATION;GO_NEGATIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Highest expression in trophoblastic cells, in cells of seminiferus ducts and  in lymphoid reaction centers.	http://www.proteinatlas.org/ENSG00000168078-PBK/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 9.4	cytoplasm	.	.
L	8	27668515	rs2272691	C	T	186	PASS	PBK	PDZ-binding kinase	exonic	NM_001278945,NM_018492	.	synonymous SNV	PBK:NM_001278945:exon7:c.G765A:p.S255S,PBK:NM_018492:exon7:c.G732A:p.S244S	ENSG00000171320.14,ENST00000522944.5,ENSG00000168078.9,ENST00000522378.5,ENST00000524266.1,ENST00000301905.8	.	8p21.1	.	.	Score=828;Name=V$POU3F2_01	.	.	rs2272691	.	.	0.0265781	0.0278	0.0245607	0.0163	0.00804127	276822	0.02438766	18862	0.02331908	0.03785211	.	-1.2520	.	.	.	.	.	.	.	.	.	-0.290	-0.123	1.654442,14.15	.	.	VDB=0.639928;SGB=-0.688148;RPB=0.977888;MQB=0.00413529;MQSB=0.266427;BQB=0.699238;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=32;DP4=6,1,13,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/1:22:219,0,169:7,15	C	T	0	1	PDZ-binding kinase, 611210	.	.	.	10781613|17160018|16291951|10779557|15541388|17482142|16982762|11783945	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_CELLULAR_RESPONSE_TO_UV;GO_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_RESPONSE_TO_UV;GO_RESPONSE_TO_RADIATION;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_RADIATION;GO_NEGATIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Highest expression in trophoblastic cells, in cells of seminiferus ducts and  in lymphoid reaction centers.	http://www.proteinatlas.org/ENSG00000168078-PBK/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 9.4	cytoplasm	.	BP7
H	8	29197763	rs143782247	G	A	222	PASS	DUSP4	Dual-specificity phosphatase-4 (MAP kinase phosphatase-2)	splicing	NM_001394,NM_057158	NM_001394:exon2:c.434-3C>T;NM_057158:exon3:c.161-3C>T	.	.	ENST00000240100.6,ENSG00000120875.8,ENST00000240101.2	.	8p12	.	.	.	.	.	rs143782247	.	.	0.0315615	0.0377	0.00878594	0.0002	0.00421479	269290	0.02847480	18332	0.02642829	0.02728873	0.0639,0.122	-4.0602	.	.	.	.	.	.	.	.	.	1.383	4.515	1.887044,15.51	4.11	.	VDB=0.360777;SGB=-0.692831;RPB=0.396127;MQB=1.37096e-06;MQSB=0.574707;BQB=0.358137;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=59;DP4=14,10,11,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/1:48:255,0,255:24,24	G	A	0	1	Dual-specificity phosphatase-4 (MAP kinase phosphatase-2), 602747	.	.	.	23048029|7535768|19228121|9205128	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_EMBRYO_DEVELOPMENT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_GASTRULATION;GO_ENDODERM_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_ENDODERM_FORMATION;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_INACTIVATION_OF_MAPK_ACTIVITY;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;GO_MAP_KINASE_PHOSPHATASE_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY	.	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERKS_ARE_INACTIVATED;REACTOME_ERK_MAPK_TARGETS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	.	http://www.proteinatlas.org/ENSG00000120875-DUSP4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 10.9	nucleus but not nucleoli	.	PP3
H	8	41794796	rs201760077	ATCT	A	222	PASS	KAT6A	K(lysine) acetyltransferase 6A	exonic	NM_006766	.	nonframeshift deletion	KAT6A:NM_006766:exon16:c.3327_3329del:p.1109_1110del	ENST00000418721.5,ENST00000396930.3,ENSG00000083168.9,ENST00000265713.6,ENST00000406337.5	.	8p11.21	.	.	.	.	.	rs201760077	.	.	0.0332226	0.0298	0.00698882	0.0006	0.00667052	276740	0.04155183	18868	0.03614458	0.04049296	.	.	.	.	.	.	.	.	.	.	.	.	.	2.974637,15.92	.	.	INDEL;VDB=0.0939624;SGB=-0.693021;MQSB=0.931547;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=60;DP4=18,9,21,6;IDV=29;IMF=0.483333;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:47:.:.	0/0:10:.:.	0/0:30:.:.	0/0:50:.:.	0/1:54:255,0,255:27,27	ATCT	A	0	1	Mental retardation, autosomal dominant 32, 616268 (3), Autosomal dominant	.	.	.	20418886|25728775|8782817|9558366|12676584|16702405|9731070|7747773|12461753|8782818|25728777|16651658|22921202|26331536	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_SENESCENCE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_AGING;GO_DNA_CONFORMATION_CHANGE;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_PROTEIN_ACETYLATION;GO_CHROMATIN_MODIFICATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_COVALENT_CHROMATIN_MODIFICATION;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_CELL_AGING;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_MYELOID_CELL_DIFFERENTIATION;GO_PROTEIN_ACYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_HISTONE_H3_ACETYLATION;GO_DNA_PACKAGING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_CHROMOSOME;GO_TRANSFERASE_COMPLEX;GO_NUCLEAR_BODY;GO_PML_BODY;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_DNA_PACKAGING_COMPLEX;GO_GOLGI_APPARATUS;GO_NUCLEOLUS;GO_ACETYLTRANSFERASE_COMPLEX	GO_ACETYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_TRANSITION_METAL_ION_BINDING;GO_PEPTIDE_N_ACETYLTRANSFERASE_ACTIVITY;GO_N_ACYLTRANSFERASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ZINC_ION_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_N_ACETYLTRANSFERASE_ACTIVITY	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic and nuclear staining.	http://www.proteinatlas.org/ENSG00000083168-KAT6A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 19.5	nucleus but not nucleoli; golgi apparatus	.	BS1, BS2, PM4
L	8	48885621	rs201607806	C	T	189	PASS	MCM4	Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4	exonic	NM_005914,NM_182746	.	synonymous SNV	MCM4:NM_005914:exon13:c.C2133T:p.I711I,MCM4:NM_182746:exon14:c.C2133T:p.I711I	ENST00000518382.1,ENSG00000104738.16,ENST00000523944.5,ENST00000523853.1,ENST00000262105.6	.	8q11.21	.	.	.	.	.	rs201607806	.	.	0.00166113	0.004	0.000798722	.	0.00012733	274886	0.00175532	18800	0.00058320	.	.	-0.5198	.	.	.	.	.	.	.	.	.	-1.514	-0.122	2.231888,17.72	.	.	VDB=0.241431;SGB=-0.683931;RPB=0.966585;MQB=0.0021483;MQSB=0.891154;BQB=0.950498;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=27;DP4=1,10,2,11;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:222,0,176:11,13	C	T	0	1	Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3), Autosomal recessive	.	.	.	22499342|9465298|16532402|22354167|18096807|8265339|22354170|9284934|7601140|9441764|20054399|17143284	GO_CHROMOSOME_ORGANIZATION;GO_DNA_DEPENDENT_DNA_REPLICATION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_DNA_CONFORMATION_CHANGE;GO_MITOTIC_CELL_CYCLE;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_DNA_REPLICATION_INITIATION;GO_CELL_CYCLE;GO_DNA_GEOMETRIC_CHANGE;GO_DNA_REPLICATION;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_MCM_COMPLEX;GO_NUCLEAR_CHROMOSOME;GO_CHROMOSOME_TELOMERIC_REGION	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_SINGLE_STRANDED_DNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY	KEGG_DNA_REPLICATION;KEGG_CELL_CYCLE	PID_CMYB_PATHWAY	BIOCARTA_MCM_PATHWAY	REACTOME_ACTIVATION_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_SYNTHESIS_OF_DNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_DNA_REPLICATION;REACTOME_ACTIVATION_OF_ATR_IN_RESPONSE_TO_REPLICATION_STRESS;REACTOME_UNWINDING_OF_DNA;REACTOME_G2_M_CHECKPOINTS;REACTOME_S_PHASE;REACTOME_DNA_STRAND_ELONGATION	General nuclear expression of varying intensity.	http://www.proteinatlas.org/ENSG00000104738-MCM4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 46.1	nucleus but not nucleoli	.	BP7, PM2
H	8	77754957	rs148458190	A	T	222	PASS	ZFHX4	Zinc finger homeobox 4	exonic	NM_024721	.	missense SNV	ZFHX4:NM_024721:exon6:c.A3461T:p.D1154V	ENST00000523625.5,ENST00000519536.1,ENST00000521891.6,ENST00000518282.5,ENSG00000091656.15	.	8q21.11	.	.	.	.	.	rs148458190	.	.	0.038206	0.0317	0.00678914	.	0.00228730	190618	0.03495019	12246	0.03245239	0.03345070	.	-0.4124	.	0.052,T	0.05,B	0.02,B	0.99999,D	0.010794,U	0,N	0.73,T	9.855	2.016	5.812	.	4.81	.	VDB=0.499436;SGB=-0.693132;RPB=0.27167;MQB=1.52082e-07;MQSB=0.503002;BQB=0.292802;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=80;DP4=27,3,30,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:64:255,0,255:30,34	A	T	0	1	?Ptosis, congenital, 178300 (2), Autosomal dominant	.	.	.	16946494|11935336	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000091656-ZFHX4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 2.7	nucleus; nucleoli	.	BS1
H	8	86126829	.	A	ACATTAC	228	PASS	C8orf59	.	exonic	NM_001099670,NM_001099671,NM_001099672,NM_001099673,NM_001293320	.	nonframeshift insertion	C8orf59:NM_001293320:exon3:c.145_146insGTAATG:p.V49delinsGNV,C8orf59:NM_001099673:exon4:c.262_263insGTAATG:p.V88delinsGNV,C8orf59:NM_001099670:exon5:c.262_263insGTAATG:p.V88delinsGNV,C8orf59:NM_001099671:exon5:c.262_263insGTAATG:p.V88delinsGNV,C8orf59:NM_001099672:exon5:c.262_263insGTAATG:p.V88delinsGNV	ENST00000611854.4_1,ENST00000612809.4,ENST00000614462.4_1,ENST00000545322.5_1,ENST00000612977.4_1,ENST00000256117.9,ENST00000256117.9_0,ENST00000518234.5,ENST00000612977.4,ENST00000611854.4,ENSG00000133740.10,ENST00000619594.4,ENST00000615071.1,ENST00000619594.4_1,ENST00000615697.4_1,ENST00000545322.5,ENST00000612809.4_1,ENST00000615697.4,ENST00000614462.4,ENSG00000176731.11	.	8q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00718778	0.00429185	.	.	.	.	.	.	.	.	.	.	.	.	.	1.359895,10.47	.	.	INDEL;VDB=0.0202225;SGB=-0.693146;MQSB=1;MQ0F=0;MQ=50;DP=57;DP4=1,0,32,12;IDV=2;IMF=0.0350877;MinDP=5;AN=6;AC=2	GT:DP:PL:AD	./.:.:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	./.:.:.:.	1/1:45:255,104,0:1,44	A	ACATTAC	1	0	.	.	.	.	.	GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_XENOPHAGY;GO_MACROAUTOPHAGY;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AUTOPHAGY;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_MACROMITOPHAGY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ORGANELLE_DISASSEMBLY	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000176731-C8orf59/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 52.6	.	.	PM4
L	8	95143171	rs187981885	C	T	222	PASS	CDH17	Cadherin-17, liver-intestine	exonic	NM_001144663,NM_004063	.	synonymous SNV	CDH17:NM_001144663:exon16:c.G2217A:p.E739E,CDH17:NM_004063:exon16:c.G2217A:p.E739E	ENSG00000079112.9,ENST00000450165.6,ENST00000441892.6,ENST00000027335.7	.	8q22.1	.	.	.	.	.	rs187981885	.	.	0.00332226	0.002	0.000399361	.	0.00006101	245854	0.00057978	17248	0.00058298	.	.	2.1211	.	.	.	.	.	.	.	.	.	0.080	0.357	.	.	.	VDB=0.137455;SGB=-0.692717;RPB=0.64878;MQB=0.000403654;MQSB=0.452954;BQB=0.943197;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=49;DP4=11,6,12,11;MinDP=25;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:40:.:.	0/0:50:.:.	0/0:31:.:.	0/0:25:.:.	0/0:31:.:.	0/0:50:.:.	0/1:40:255,0,255:17,23	C	T	0	1	Cadherin-17, liver-intestine, 603017	.	.	.	10191097|8153632|9615235	GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_AMIDE_TRANSPORT;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_CELL_ACTIVATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CALCIUM_DEPENDENT_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_B_CELL_DIFFERENTIATION;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELL_JUNCTION_ORGANIZATION;GO_LYMPHOCYTE_ACTIVATION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_B_CELL_ACTIVATION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_MATURE_B_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_MATURE_B_CELL_DIFFERENTIATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_INTEGRIN_MEDIATED_SIGNALING_PATHWAY;GO_LYMPHOCYTE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_TRANSMEMBRANE_TRANSPORT;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION;GO_LYMPHOCYTE_DIFFERENTIATION;GO_PEPTIDE_TRANSPORT;GO_SPLEEN_DEVELOPMENT;GO_IMMUNE_EFFECTOR_PROCESS;GO_B_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_CALCIUM_ION_BINDING;GO_AMIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INTEGRIN_BINDING;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Distinct membranous and cytoplasmic expression in gastrointestinal glands.	http://www.proteinatlas.org/ENSG00000079112-CDH17/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	appendix: 24.6	nucleus; plasma membrane; nucleoli	.	BP7, PM2
H	8	109498819	rs368291547	C	T	222	PASS	EMC2	ER membrane protein complex subunit 2	exonic	NM_001329493,NM_001329495,NM_014673	.	stopgain	EMC2:NM_001329493:exon11:c.C913T:p.Q305X,EMC2:NM_014673:exon11:c.C886T:p.Q296X,EMC2:NM_001329495:exon12:c.C889T:p.Q297X	ENST00000220853.7,ENSG00000104412.7,ENST00000519450.2,ENST00000520294.5	.	8q23.1	.	.	.	.	.	rs368291547	.	.	.	.	.	7.7e-05	0.00009986	270384	0.00119800	18364	0.00077730	0.00088028	.	.	.	.	.	.	0.998849,D	0.000000,D	.	.	20.3748	2.817	5.044	13.644407,42	5.95	.	VDB=0.274415;SGB=-0.691153;RPB=0.857038;MQB=4.82764e-05;MQSB=0.350309;BQB=0.350949;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=50;DP4=13,7,10,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/0:30:.:.	0/1:38:255,0,255:20,18	C	T	0	1	ER membrane protein complex subunit 2, 607722	.	.	.	11593002|7788527	.	.	.	.	.	.	.	General cytoplasmic and nuclear expression.	http://www.proteinatlas.org/ENSG00000104412-EMC2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 53.4	.	.	PM2, PP3
M	8	110463284	rs78213464	G	A	222	PASS	PKHD1L1	PKHD1-like 1	exonic	NM_177531	.	missense SNV	PKHD1L1:NM_177531:exon41:c.G6256A:p.A2086T	ENST00000378402.9,ENSG00000205038.11	.	8q23.1	.	.	.	.	.	rs78213464	.	.	0.0232558	0.0258	0.00519169	.	0.00044055	276924	0.00562573	18842	0.00582977	0.00617284	.	-0.5781	IPT domain;Immunoglobulin-like fold	0.684,T	0.0,B	0.0,B	1,N	0.607443,N	-1.735,N	-1.99,D	4.1808	-1.486	0.068	.	.	.	VDB=0.845301;SGB=-0.691153;RPB=0.0497833;MQB=7.73142e-07;MQSB=0.99965;BQB=0.251407;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=55;DP4=17,8,13,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:23:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:255,0,255:25,18	G	A	0	1	PKHD1-like 1, 607843	.	.	.	12620974	GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_RESPONSE	GO_EXTRACELLULAR_SPACE	GO_RECEPTOR_ACTIVITY	.	.	.	.	RNA data suggests expression in thyroid gland and fallopian tube. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000205038-PKHD1L1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	endometrium: 3.1	.	.	BP4, PM1
L	8	132051983	rs568398874	T	G	222	PASS	ADCY8	Adenylyl cyclase-8, brain	exonic	NM_001115	.	synonymous SNV	ADCY8:NM_001115:exon1:c.A597C:p.L199L	ENST00000286355.9,ENSG00000155897.9,ENST00000377928.7	.	8q24.22	.	.	.	.	.	rs568398874	.	.	0.00332226	0.004	0.000798722	.	0.00029251	276912	0.00418876	18860	0.00097163	0.00088028	.	.	.	.	.	.	.	.	.	.	.	-3.064	-0.635	.	.	.	VDB=0.117337;SGB=-0.693147;RPB=0.947866;MQB=1.41173e-20;MQSB=0.975623;BQB=0.794557;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=176;DP4=51,21,40,17;MinDP=53;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:53:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:129:255,0,255:72,57	T	G	0	1	Adenylyl cyclase-8, brain, 103070	.	.	.	8076676|16537520|10075700|12503609|1715695|16613843|1427768|12441059	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_MEMORY;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_REGULATION_OF_LYASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_ACTIVATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_LYASE_ACTIVITY;GO_CAMP_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_GLUCAGON;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_GLUCAGON_STIMULUS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PURINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RENAL_WATER_HOMEOSTASIS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_WATER_HOMEOSTASIS;GO_LONG_TERM_MEMORY;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CYCLIC_NUCLEOTIDE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CAMP_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BEHAVIOR;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_RENAL_SYSTEM_PROCESS;GO_ACTIVATION_OF_PROTEIN_KINASE_A_ACTIVITY;GO_CAMP_MEDIATED_SIGNALING	.	GO_CYCLASE_ACTIVITY;GO_LYASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_PURINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_TASTE_TRANSDUCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_MELANOGENESIS;KEGG_DILATED_CARDIOMYOPATHY	PID_ENDOTHELIN_PATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_LPA4_PATHWAY	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REACTOME_ADENYLATE_CYCLASE_INHIBITORY_PATHWAY;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_PKA_MEDIATED_PHOSPHORYLATION_OF_CREB;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_SIGNALING_BY_FGFR	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000155897-ADCY8/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	smooth muscle: 0.5	.	.	BP7, PM2
L	8	135602590	rs3739424	C	T	186	PASS	ZFAT	.	exonic	NM_001029939,NM_001167583,NM_001174157,NM_001174158,NM_001289394,NM_020863	.	synonymous SNV	ZFAT:NM_001174157:exon7:c.G2298A:p.R766R,ZFAT:NM_001167583:exon8:c.G2448A:p.R816R,ZFAT:NM_001174158:exon8:c.G2448A:p.R816R,ZFAT:NM_020863:exon8:c.G2484A:p.R828R,ZFAT:NM_001029939:exon9:c.G2448A:p.R816R,ZFAT:NM_001289394:exon9:c.G2448A:p.R816R	ENST00000520356.5,ENST00000517307.5,ENST00000523399.5,ENSG00000066827.15,ENST00000523924.5,ENST00000520727.5,ENST00000519827.1,ENST00000377838.7,ENST00000429442.6,ENST00000520214.5,ENST00000523243.5	.	8q24.22	.	.	Score=783;Name=V$MEF2_01	.	.	rs3739424	.	.	0.0232558	0.0238	0.00499201	.	0.00135081	276130	0.01902030	18822	0.01651768	0.01496479	.	0.4940	.	.	.	.	.	.	.	.	.	2.257	2.997	1.727764,14.57	4.85	.	VDB=0.788754;SGB=-0.686358;RPB=0.812671;MQB=1.99473e-06;MQSB=0.889581;BQB=0.512385;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=52;DP4=17,8,11,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:39:219,0,255:25,14	C	T	0	1	.	.	.	.	.	GO_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_SPONGIOTROPHOBLAST_LAYER_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PLACENTA_DEVELOPMENT;GO_REPRODUCTION;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Selective nuclear expression in placenta.	http://www.proteinatlas.org/ENSG00000066827-ZFAT/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	testis: 3.7	nucleus; cytoplasm	.	BS2
M	8	139164107	rs771228609	G	C	222	PASS	FAM135B	.	exonic	NM_015912	.	missense SNV	FAM135B:NM_015912:exon13:c.C2611G:p.P871A	ENST00000482951.6,ENST00000395297.5,ENST00000276737.10,ENSG00000147724.11,ENST00000467365.1	.	8q24.23	.	.	.	.	.	rs771228609	.	.	.	.	.	.	0.00007215	277182	0.00090090	18870	0.00038865	.	.	0.0018	.	0.243,T	0.01,B	0.023,B	1,N	0.973872,N	1.445,L	2.48,T	2.8286	-0.011	-0.218	.	.	0.00451552759581	VDB=0.733505;SGB=-0.69311;RPB=0.874621;MQB=9.16028e-09;MQSB=0.990388;BQB=0.970176;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=66;DP4=17,7,22,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:45:.:.	0/0:40:.:.	0/0:50:.:.	0/1:55:255,0,255:24,31	G	C	0	1	.	.	.	.	.	GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	Ubiquitous nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000147724-FAM135B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	rectum: 0.6	nucleus but not nucleoli; nuclear membrane	.	BP4, PM2
L	8	141678398	rs55965948	G	A	222	PASS	PTK2	PTK2 protein tyrosine kinase	exonic	NM_001199649,NM_001316342,NM_005607,NM_153831	.	synonymous SNV	PTK2:NM_005607:exon30:c.C2901T:p.A967A,PTK2:NM_153831:exon30:c.C2835T:p.A945A,PTK2:NM_001199649:exon31:c.C2874T:p.A958A,PTK2:NM_001316342:exon31:c.C2544T:p.A848A	ENST00000524202.5,ENST00000521059.5,ENST00000430260.6,ENST00000395218.3,ENST00000519654.5,ENST00000522684.5,ENST00000521986.5,ENST00000340930.7,ENST00000523805.5,ENST00000517712.5,ENST00000520460.1,ENST00000523539.5,ENSG00000169398.19,ENST00000517887.5,ENST00000519993.5,ENST00000519419.5,ENST00000519465.5	.	8q24.3	.	.	.	.	.	rs55965948	.	.	0.0116279	0.0129	0.00259585	7.7e-05	0.00094162	277182	0.01245627	18866	0.00738438	0.00881834	.	0.4683	.	.	.	.	1,D	.	.	.	1.4785	0.027	-1.405	1.216652,11.83	.	.	VDB=0.431879;SGB=-0.693097;RPB=0.910023;MQB=2.06805e-10;MQSB=0.891057;BQB=0.995142;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=79;DP4=17,18,18,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:35,30	G	A	0	1	PTK2 protein tyrosine kinase, 600758	.	.	.	8422239|14642275|7766995|12615911|7566154|21107430|15494734|15494732|15601818|16374517|18448675|7479864|15494733|1594631|25079333|21669400|12805241|12941275	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_FC_GAMMA_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_EPIDERMAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_MICROTUBULE_BASED_PROCESS;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_NEGATIVE_REGULATION_OF_ORGAN_GROWTH;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_ENDOTHELIAL_CELL_MIGRATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_TAXIS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_GROWTH_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ERBB_SIGNALING_PATHWAY;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ORGAN_GROWTH;GO_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_GROWTH_HORMONE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_TISSUE_MIGRATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_HEART_MORPHOGENESIS;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_ORGAN_MORPHOGENESIS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_ADHESION_MEDIATED_BY_INTEGRIN;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_EPHRIN_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ANOIKIS;GO_LOCOMOTION;GO_NUCLEUS_LOCALIZATION;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_ESTABLISHMENT_OF_NUCLEUS_LOCALIZATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEURON_MIGRATION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_VASCULOGENESIS;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_REGULATION_OF_ANOIKIS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_PEPTIDYL_TYROSINE_AUTOPHOSPHORYLATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_PLACENTA_DEVELOPMENT;GO_NEURON_PROJECTION_GUIDANCE;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DEVELOPMENT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_REPRODUCTION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_INTEGRIN_MEDIATED_SIGNALING_PATHWAY;GO_ANGIOGENESIS;GO_REGULATION_OF_CELL_SHAPE;GO_ORGANELLE_LOCALIZATION;GO_EXECUTION_PHASE_OF_APOPTOSIS;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_ENDOCYTOSIS;GO_CELLULAR_COMPONENT_DISASSEMBLY_INVOLVED_IN_EXECUTION_PHASE_OF_APOPTOSIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_REGULATION_OF_AXONOGENESIS;GO_PHAGOCYTOSIS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_AXONOGENESIS;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_OSSIFICATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_APICAL_PART_OF_CELL;GO_ACTIN_FILAMENT_BUNDLE;GO_ACTOMYOSIN;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_SIDE_OF_MEMBRANE;GO_LAMELLIPODIUM;GO_ANCHORING_JUNCTION;GO_EXTRINSIC_COMPONENT_OF_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_CELL_CORTEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_CELL_LEADING_EDGE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_ACTIN_BINDING;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_SH2_DOMAIN_BINDING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_FCER1_PATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_MET_PATHWAY;PID_EPHB_FWD_PATHWAY;PID_NECTIN_PATHWAY;PID_RET_PATHWAY;PID_ANGIOPOIETIN_RECEPTOR_PATHWAY;PID_NETRIN_PATHWAY;PID_CXCR4_PATHWAY;PID_IGF1_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_CASPASE_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_EPHA2_FWD_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_AGR_PATHWAY;BIOCARTA_AT1R_PATHWAY;BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_SPPA_PATHWAY;BIOCARTA_CCR3_PATHWAY;BIOCARTA_CELL2CELL_PATHWAY;BIOCARTA_CXCR4_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_EDG1_PATHWAY;BIOCARTA_PTEN_PATHWAY;BIOCARTA_ACH_PATHWAY;BIOCARTA_MET_PATHWAY;BIOCARTA_TFF_PATHWAY;BIOCARTA_UCALPAIN_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_AXON_GUIDANCE;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_APOPTOSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_APOPTOTIC_EXECUTION_PHASE	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000169398-PTK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 52.8	focal adhesions; cytoplasm; vesicles	.	BP7
H	8	143545936	.	T	A	222	PASS	ADGRB1	Adhesion G protein-coupled receptor B1	exonic	NM_001702	.	missense SNV	ADGRB1:NM_001702:exon1:c.T377A:p.L126H	ENST00000517894.5,ENST00000323289.6,ENSG00000181790.10,ENST00000521208.5	CpG: 72	8q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00027747	.	.	.	.	0.0,D	0.999,D	1.0,D	0.999997,D	0.000040,U	2.845,M	-0.1,T	13.2284	1.723	7.256	5.445417,26.1	4.63	0.51618525507	VDB=0.263509;SGB=-0.693147;RPB=0.782772;MQB=4.20773e-20;MQSB=0.997603;BQB=0.699684;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=187;DP4=44,22,44,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:135:255,0,255:66,69	T	A	0	1	Adhesion G protein-coupled receptor B1, 602682	.	.	.	7584949|23615608|9393972|17960134|9647739|9533023|7531056	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2, PP3
H	8	144512545	rs201493864	A	G	222	PASS	MAFA	v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A	exonic	NM_201589	.	missense SNV	MAFA:NM_201589:exon1:c.T32C:p.L11P	ENSG00000182759.3,ENST00000333480.2	CpG: 294	8q24.3	.	.	Score=785;Name=V$MIF1_01	.	.	rs201493864	.	.	0.0215947	0.0169	0.00339457	.	0.00047554	130378	0.01044248	5650	0.02080902	0.01681416	.	.	.	0.001,D	0.795,P	0.995,D	0.999966,D	0.000134,U	2.61,M	-6.03,D	8.0729	0.093	6.273	3.473759,23.0	.	.	VDB=0.000255242;SGB=-0.688148;RPB=0.842568;MQB=0.000120475;MQSB=0.693041;BQB=0.997152;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=43;DP4=8,9,4,11;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:49:.:.	0/0:50:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/1:32:255,0,255:17,15	A	G	0	1	v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A, 610303	.	.	.	12011435|15923615|15665000|18754011	GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_PROTEIN_SECRETION;GO_INSULIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_HORMONE_TRANSPORT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_SECRETION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SIGNAL_RELEASE;GO_RESPONSE_TO_CARBOHYDRATE;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NITRIC_OXIDE_MEDIATED_SIGNAL_TRANSDUCTION;GO_PEPTIDE_TRANSPORT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT;REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS	.	http://www.proteinatlas.org/ENSG00000182759-MAFA/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 0.3	.	.	BS2
H	8	144644919	rs200540390	G	A	222	PASS	GSDMD	Gasdermin D	exonic	NM_001166237,NM_024736	.	missense SNV	GSDMD:NM_024736:exon11:c.G1300A:p.E434K,GSDMD:NM_001166237:exon14:c.G1300A:p.E434K	ENST00000524846.5,ENST00000531173.1,ENST00000526469.5,ENST00000531184.5,ENST00000526406.5,ENST00000262580.8,ENST00000533063.5,ENST00000528475.1,ENSG00000104518.10,ENST00000525208.1	.	8q24.3	.	.	.	.	.	rs200540390	.	.	0.0116279	0.0139	0.00279553	.	0.00111758	227276	0.01591650	15330	0.00913686	0.00975177	.	.	.	0.012,D	0.226,B	0.876,P	1,N	0.807795,N	1.095,L	1.76,T	1.8612	-1.771	-0.784	.	.	.	VDB=0.59072;SGB=-0.693147;RPB=0.669811;MQB=5.74641e-15;MQSB=0.93397;BQB=0.81829;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=160;DP4=31,24,41,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:123:255,0,255:55,68	G	A	0	1	Gasdermin D, 617042	.	.	.	15289881|26375259|27383986|19051310|26375003	GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_1_BETA_PRODUCTION;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_1_SECRETION;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_INTERLEUKIN_1_BETA_PRODUCTION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_POSITIVE_REGULATION_OF_CYTOKINE_SECRETION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_INTERLEUKIN_1_SECRETION;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION	GO_INFLAMMASOME_COMPLEX;GO_CYTOSOLIC_PART	.	.	.	.	.	Cytoplasmic and membranous expression in many cell types, most abundant in glandular cells.	http://www.proteinatlas.org/ENSG00000104518-GSDMD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 60.8	nucleus but not nucleoli	.	.
L	8	144942787	rs185538739	G	A	222	PASS	EPPK1	Epiplakin 1	exonic	NM_031308	.	synonymous SNV	EPPK1:NM_031308:exon2:c.C4635T:p.D1545D	ENST00000568225.2,ENST00000615648.1,ENST00000615648.1_0,ENSG00000261150.2,ENST00000568225.2_0	.	8q24.3	.	.	.	.	.	rs185538739	.	.	0.00498339	0.0069	0.00159744	7.9e-05	0.00082340	248968	0.01106428	17082	0.01069207	0.01855124	.	.	.	.	.	.	.	.	.	.	.	-2.142	-3.066	.	.	.	VDB=0.727042;SGB=-0.693147;RPB=0.697839;MQB=6.6537e-16;MQSB=0.991273;BQB=0.725583;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=147;DP4=48,17,38,13;MinDP=60;AN=18;AC=1	GT:DP:PL:AD	0/0:60:.:.	0/0:101:.:.	0/0:102:.:.	0/0:104:.:.	0/0:97:.:.	0/0:69:.:.	0/0:100:.:.	0/0:78:.:.	0/1:116:255,0,255:65,51	G	A	0	1	Epiplakin 1, 607553	.	.	.	11278896	.	GO_CYTOSKELETON	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Cytoplasmic expression in epithelial and glandular cells in several different tissues.	http://www.proteinatlas.org/ENSG00000261150-EPPK1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 2.2	.	.	BP7
L	8	145111955	.	G	A	222	PASS	OPLAH	5-oxoprolinase (ATP-hydrolyzing)	exonic	NM_017570	.	synonymous SNV	OPLAH:NM_017570:exon12:c.C1602T:p.P534P	ENST00000618853.4,ENSG00000178814.16	.	8q24.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00000446	224152	0.00006193	16148	.	.	.	-0.1067	.	.	.	.	.	.	.	.	.	0.364	-0.021	.	.	.	VDB=0.0350779;SGB=-0.693147;RPB=0.27382;MQB=4.80005e-15;MQSB=0.888356;BQB=0.773832;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=176;DP4=29,28,49,27;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:70:.:.	0/0:101:.:.	0/0:100:.:.	0/0:105:.:.	0/0:100:.:.	0/0:74:.:.	0/0:52:.:.	0/0:60:.:.	0/1:133:255,0,255:57,76	G	A	0	1	5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant	.	.	.	21651516|23430506|21886157|14993790	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_NONRIBOSOMAL_PEPTIDE_BIOSYNTHETIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLUTATHIONE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	.	GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS	KEGG_GLUTATHIONE_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUTATHIONE_CONJUGATION;REACTOME_PHASE_II_CONJUGATION	Expression in luminal membranes in several glandular epithelia including gastrointestinal tract, renal tubules and fallopian tube.	http://www.proteinatlas.org/ENSG00000178814-OPLAH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	duodenum: 9.5	nucleus but not nucleoli; cytoplasm	.	BP7, PM2
M	8	145154099	rs35844464	G	C	222	PASS	SHARPIN	SHANK-associated RH domain interactor	exonic	NM_030974	.	missense SNV	SHARPIN:NM_030974:exon7:c.C932G:p.P311R	ENSG00000179526.16,ENST00000398712.6,ENST00000532536.5,ENST00000359551.6	.	8q24.3	.	.	.	.	.	rs35844464	.	.	0.0199336	0.0159	0.00359425	.	0.00226614	266532	0.02482231	18572	0.02953750	0.03274336	.	-0.1045	Ubiquitin-related domain	0.832,T	0.0,B	0.0,B	1,N	0.518155,N	-0.895,N	0.93,T	5.8889	0.108	-0.781	.	.	.	VDB=0.0636152;SGB=-0.693021;RPB=0.993716;MQB=6.74657e-11;MQSB=0.666557;BQB=0.946616;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=196;DP4=72,28,51,15;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:74:255,0,255:47,27	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:92:255,0,255:53,39	G	C	0	2	SHANK-associated RH domain interactor, 611885	.	.	.	21455173|21455181|11178875|17538631|21455180	GO_EPITHELIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_CELL_DEATH;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_OLIGOMERIZATION;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_PROTEIN_POLYUBIQUITINATION;GO_KERATINOCYTE_DIFFERENTIATION;GO_APOPTOTIC_NUCLEAR_CHANGES;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_PROTEIN_UBIQUITINATION;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_EPIDERMIS_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_HEAD_DEVELOPMENT;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_KERATINIZATION;GO_POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_EXECUTION_PHASE_OF_APOPTOSIS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_CELLULAR_COMPONENT_DISASSEMBLY_INVOLVED_IN_EXECUTION_PHASE_OF_APOPTOSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	GO_EXCITATORY_SYNAPSE;GO_NEURON_PART;GO_TRANSFERASE_COMPLEX;GO_POSTSYNAPSE;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CELL_JUNCTION;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CATALYTIC_COMPLEX;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_SYNAPSE_PART;GO_DENDRITE	GO_POLYUBIQUITIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ZINC_ION_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000179526-SHARPIN/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 39.5	nucleus; cytoplasm	.	BP4, PM1
H	8	145736460	rs570033509	G	C	222	PASS	MFSD3	.	exonic	NM_138431	.	missense SNV	MFSD3:NM_138431:exon5:c.G1152C:p.L384F	ENSG00000167700.8,ENST00000534427.1,ENST00000301327.4,ENST00000528047.5	.	8q24.3	.	.	.	.	.	rs570033509	.	.	0.00332226	0.003	0.000599042	.	0.00014624	273514	0.00201527	18856	0.00077760	0.00176678	.	.	Major facilitator superfamily domain	0.178,T	0.142,B	0.578,P	0.986018,D	0.000546,D	1.72,L	-1.41,T	5.6814	-0.153	1.942	1.182772,11.66	.	0.096754410833	VDB=0.0754912;SGB=-0.693147;RPB=0.98424;MQB=1.2643e-23;MQSB=0.934489;BQB=0.860607;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=213;DP4=53,36,46,29;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:164:255,0,255:89,75	G	C	0	1	.	.	.	.	.	GO_ION_TRANSPORT;GO_COFACTOR_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ANION_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_SULFUR_COMPOUND_TRANSPORT;GO_HYDROGEN_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_COFACTOR_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SOLUTE_PROTON_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Subset of lymphoid cells displayed strong cytoplasmic staining with a dot-like pattern. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000167700-MFSD3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 13.4	.	.	PM1, PM2
H*	8	145739716	rs552226907	G	C	222	PASS	RECQL4	DNA helicase, RecQ-like 4	exonic	NM_004260	.	missense SNV	RECQL4:NM_004260:exon11:c.C1735G:p.L579V	ENSG00000160957.12,ENST00000534626.6,ENST00000617875.4,ENST00000621189.4,ENST00000532846.2	.	8q24.3	.	.	.	.	.	rs552226907	.	.	0.00332226	0.002	0.000399361	.	0.00001245	241014	0.00017468	17174	.	0.00139276	.	-0.0137	DEAD/DEAH box helicase domain;Helicase superfamily 1/2, ATP-binding domain;P-loop containing nucleoside triphosphate hydrolase	.	.	.	.	.	.	.	.	-0.006	3.552	.	.	0.0146057970342	VDB=0.924183;SGB=-0.693147;RPB=0.831495;MQB=9.48994e-28;MQSB=0.891439;BQB=0.97333;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=217;DP4=71,30,65,22;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:141:.:.	0/1:188:255,0,255:101,87	G	C	0	1	Baller-Gerold syndrome, 218600 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive; Rothmund-Thomson syndrome, 268400 (3), Autosomal recessive	.	.	.	12838562|12915449|9878247|10319867|10678659|15703196|11257107|19567405|12952869|18716613|20503338|15964893|12734318|15317757	GO_CHROMOSOME_ORGANIZATION;GO_DNA_CONFORMATION_CHANGE;GO_BASE_EXCISION_REPAIR;GO_DNA_REPAIR;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_DNA_RECOMBINATION;GO_DNA_GEOMETRIC_CHANGE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_DNA_SECONDARY_STRUCTURE_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_3_5_DNA_HELICASE_ACTIVITY;GO_ANNEALING_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_STRUCTURE_SPECIFIC_DNA_BINDING	.	.	.	.	Nuclear expression in all tissues at variable levels.	http://www.proteinatlas.org/ENSG00000160957-RECQL4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 9.5	nucleus	.	BP1, BP4, PM2
L	9	122057	rs779026839	CTTG	C	162	PASS	CBWD1	Cobalamin synthetase W domain-containing protein 1	exonic	NM_001145355,NM_001145356,NM_018491	.	nonframeshift deletion	CBWD1:NM_001145356:exon13:c.925_927del:p.309_309del,CBWD1:NM_018491:exon14:c.982_984del:p.328_328del,CBWD1:NM_001145355:exon15:c.874_876del:p.292_292del	ENST00000356521.8,ENST00000487575.6,ENST00000613508.4,ENST00000619157.4,ENST00000495302.5,ENST00000462513.5,ENST00000475411.5,ENST00000382447.8,ENST00000612045.4,ENST00000314367.14,ENST00000475990.5,ENST00000377400.8,ENST00000464198.5,ENST00000465014.6,ENST00000611457.4,ENSG00000172785.18	.	9p24.3	.	.	Score=853;Name=V$GFI1_01	Score=0.987317;Name=chr2:114171009	.	rs779026839	.	.	.	.	.	.	0.00013701	87582	0.00119202	9228	0.00070126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.133449;SGB=-0.693054;MQSB=0.0124278;MQ0F=0;ICB=1;HOB=0.5;MQ=31;DP=105;DP4=24,43,6,22;IDV=29;IMF=0.273585;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:31:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/1:95:195,0,255:67,28	CTTG	C	0	1	Cobalamin synthetase W domain-containing protein 1, 611078	.	.	.	12421752|11489251	.	.	GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000172785-CBWD1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 28.2	nucleus; mitochondria; vesicles	.	PM2, PM4
L	9	214679	rs117856897	G	A	222	PASS	C9orf66	.	exonic	NM_152569	.	missense SNV	C9orf66:NM_152569:exon1:c.C718T:p.P240S	ENSG00000183784.6,ENST00000382387.3	CpG: 112	9p24.3	.	.	.	.	.	rs117856897	.	.	0.0498339	0.0496	0.0105831	.	0.00273551	217510	0.03774356	14678	0.03575593	0.02816901	.	.	.	.	0.953,D	0.996,D	1,N	.	0,N	2.09,T	10.834	0.321	-0.253	3.160111,22.6	.	.	VDB=0.938819;SGB=-0.693147;RPB=0.977496;MQB=7.9602e-17;MQSB=0.119227;BQB=0.920575;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=174;DP4=53,27,51,23;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:106:.:.	0/0:78:.:.	0/0:100:.:.	0/0:97:.:.	0/0:50:.:.	0/0:101:.:.	0/1:154:255,0,255:80,74	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in kidney. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000183784-C9orf66/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	thyroid gland: 1.3	.	.	BS1
L	9	2039776	rs762478166	ACAGCAG	A	222	PASS	SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	exonic	NM_001289396,NM_001289397,NM_003070,NM_139045	.	nonframeshift deletion	SMARCA2:NM_001289396:exon4:c.667_672del:p.223_224del,SMARCA2:NM_001289397:exon4:c.667_672del:p.223_224del,SMARCA2:NM_003070:exon4:c.667_672del:p.223_224del,SMARCA2:NM_139045:exon4:c.667_672del:p.223_224del	ENST00000637806.1,ENST00000382194.6,ENST00000382203.5,ENST00000636559.1,ENSG00000080503.22,ENST00000349721.7,ENST00000637103.1,ENST00000357248.8,ENST00000636903.1,ENST00000491574.2,ENST00000450198.6,ENST00000634760.1	.	9p24.3	.	.	.	.	Score=678;Name="4762460:(CAG)n(Simple_repeat)"	rs762478166	.	.	.	.	.	.	.	.	.	.	0.02118305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.488963,17.84	.	.	INDEL;VDB=0.0495765;SGB=-0.680642;MQSB=0.969852;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=196;DP4=31,9,60,40;IDV=34;IMF=0.708333;MinDP=21;AN=18;AC=2	GT:PL:DP:AD	0/0:255,.,.:20:8,.	0/0:.:30:.	0/0:.:33:.	1/2:255,98,51,255,.,255:36:1,31,4	0/0:255,.,.:27:14,.	0/0:.:21:.	0/0:129,.,.:12:7,.	0/0:255,.,.:27:10,.	1/2:255,94,46,255,.,255:18:0,16,2	ACAGCAG	ACAG,A	0	2	Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant	.	.	.	11175787|12198550|15696166|9521582|12620226|19363039|20457675|8670841|8223438|8012116|7774911|19606471|22426308|22366787	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_GROWTH;GO_SEXUAL_REPRODUCTION;GO_CHROMATIN_MODIFICATION;GO_REGULATION_OF_CELL_GROWTH;GO_CHROMATIN_ORGANIZATION;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SPERMATID_DIFFERENTIATION;GO_CHROMATIN_REMODELING;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CHROMOSOME;GO_NEURON_PART;GO_NPBAF_COMPLEX;GO_NUCLEAR_CHROMOSOME;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_CYTOSKELETON;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_BAF_TYPE_COMPLEX;GO_SWI_SNF_COMPLEX;GO_NBAF_COMPLEX	GO_HISTONE_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_HELICASE_ACTIVITY;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CHROMATIN_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_E2F_PATHWAY;PID_AR_TF_PATHWAY;PID_CMYB_PATHWAY	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000080503-SMARCA2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 169.5	nucleus but not nucleoli; vesicles; cytoskeleton (intermediate filaments)	.	BP3
M	9	6984354	rs754770174	C	G	177	PASS	KDM4C	Lysine-specific demethylase 4C	exonic	NM_001146695,NM_001146696,NM_001304339,NM_001304340,NM_015061	.	missense SNV	KDM4C:NM_001304340:exon9:c.C761G:p.A254G,KDM4C:NM_001146695:exon10:c.C1304G:p.A435G,KDM4C:NM_001146696:exon10:c.C1370G:p.A457G,KDM4C:NM_001304339:exon10:c.C1304G:p.A435G,KDM4C:NM_015061:exon10:c.C1304G:p.A435G	ENST00000494570.1,ENST00000381309.7,ENST00000428870.6,ENST00000536108.5,ENST00000381306.7,ENST00000543771.5,ENSG00000107077.18,ENST00000438023.5	.	9p24.1	.	.	.	.	.	rs754770174	.	.	.	.	.	.	0.00028894	276878	0.00418743	18866	0.00349786	0.00440141	.	-0.0270	.	0.168,T	0.086,B	0.102,B	1,N	0.000309,N	0.345,N	2.2,T	1.6798	0.322	1.306	.	.	0.00721467635729	VDB=0.0710944;SGB=-0.689466;RPB=0.980565;MQB=8.76148e-05;MQSB=0.0923331;BQB=0.421326;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=38;DP4=7,10,2,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:28:.:.	0/0:30:.:.	0/0:10:.:.	0/1:33:210,0,255:17,16	C	G	0	1	Lysine-specific demethylase 4C, 605469	.	.	.	16732293|15138608|9872452|10987278	GO_CHROMOSOME_ORGANIZATION;GO_PROTEIN_DEALKYLATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_DEMETHYLATION;GO_CHROMATIN_MODIFICATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_CHROMATIN_ORGANIZATION;GO_OXIDATION_REDUCTION_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN	GO_HORMONE_RECEPTOR_BINDING;GO_DEMETHYLASE_ACTIVITY;GO_ANDROGEN_RECEPTOR_BINDING;GO_HISTONE_DEMETHYLASE_ACTIVITY;GO_DIOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_RECEPTOR_BINDING	.	PID_AR_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000107077-KDM4C/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 17.7	.	.	BP4, PM2
L*	9	20346570	rs190517039	G	A	192	PASS	MLLT3	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3	exonic	NM_001286691,NM_004529	.	synonymous SNV	MLLT3:NM_001286691:exon11:c.C1569T:p.I523I,MLLT3:NM_004529:exon11:c.C1578T:p.I526I	ENSG00000171843.15,ENST00000469261.5,ENST00000380321.5,ENST00000380338.8,ENST00000380323.5,ENST00000629733.2,ENST00000488705.1,ENST00000630269.2	.	9p21.3	.	.	.	.	.	rs190517039	.	.	0.0182724	0.0169	0.00339457	.	0.00115677	273174	0.01663645	18754	0.00816485	0.00617284	.	.	.	.	.	.	.	.	.	.	.	-0.666	-0.166	.	.	.	VDB=0.149308;SGB=-0.676189;RPB=0.770274;MQB=0.00100436;MQSB=0.990232;BQB=0.989614;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=18,17,8,15;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:29:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/1:31:225,0,255:20,11	0/1:27:208,0,255:15,12	G	A	0	2	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3, 159558	.	.	.	27626380|16862118|8506309|16001262|10861294	GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_SEGMENTATION;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_SEGMENT_SPECIFICATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_PATTERN_SPECIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGIONALIZATION;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY_PLANAR_CELL_POLARITY_PATHWAY	GO_NUCLEOPLASM_PART;GO_TRANSCRIPTION_ELONGATION_FACTOR_COMPLEX	.	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000171843-MLLT3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	rectum: 20.9	nucleus but not nucleoli; cytoplasm	.	BP7
L	9	32492529	rs55789327	G	A	222	PASS	DDX58	DEAD box polypeptide 58	exonic	NM_014314	.	missense SNV	DDX58:NM_014314:exon4:c.C431T:p.S144F	ENST00000379868.5,ENSG00000107201.9,ENST00000379883.2	.	9p21.1	.	.	.	.	.	rs55789327	.	.	0.0332226	0.0407	0.0477236	0.0273	0.01715265	277100	0.05111347	18860	0.04119705	0.04416961	.	-1.2172	P-loop containing nucleoside triphosphate hydrolase	0.108,T	0.004,B	0.003,B	1,N	0.469210,N	1.245,L	1.29,T	1.0358	-0.191	-0.366	.	.	.	VDB=0.00558726;SGB=-0.69311;RPB=0.999563;MQB=1.14229e-08;MQSB=0.797012;BQB=0.92017;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=103;DP4=25,14,16,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:70:255,0,255:39,31	G	A	0	1	Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant	.	Reduced activity(CM097892)	TCT-TTT|Ser144Phe|c.431C>T|p.S144F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=19859543&amp;dopt=Abstract)	19859543|17460044|15767399|15181474|17392790|25119032|21939710|17038590|11890704|15370293|15219805|25620203|21947008|16039576|16625202|21501829|15737993|26525917|19119185|21147464|24590070|17038589|17190814|15208624|18650396	GO_REGULATION_OF_INTERFERON_BETA_PRODUCTION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_CELLULAR_RESPONSE_TO_VIRUS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_8_PRODUCTION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_DEFENSE_RESPONSE_TO_VIRUS;GO_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_RESPONSE_TO_EXOGENOUS_DSRNA;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_PATTERN_RECOGNITION_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTERFERON_BETA_PRODUCTION;GO_REGULATION_OF_INTERLEUKIN_8_PRODUCTION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_GRANULOCYTE_MACROPHAGE_COLONY_STIMULATING_FACTOR_PRODUCTION;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_CYTOPLASMIC_PATTERN_RECOGNITION_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INTERFERON_ALPHA_PRODUCTION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_DSRNA;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_INTERFERON_ALPHA_PRODUCTION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_RESPONSE_TO_VIRUS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_TARGETING;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_ACTIN_CYTOSKELETON;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_JUNCTION_COMPLEX;GO_CELL_JUNCTION;GO_LEADING_EDGE_MEMBRANE;GO_CYTOSKELETON;GO_RUFFLE_MEMBRANE;GO_CELL_CELL_JUNCTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION	GO_SINGLE_STRANDED_RNA_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ZINC_ION_BINDING;GO_DOUBLE_STRANDED_RNA_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_INTERFERON_SIGNALING;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000107201-DDX58/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	appendix: 11.5	cytoplasm	.	BS1, BS2, BP4, PM1, PP2
L	9	33944586	rs79607078	C	T	222	PASS	UBAP2	.	exonic	NM_001282529,NM_018449	.	missense SNV	UBAP2:NM_001282529:exon10:c.G521A:p.R174Q,UBAP2:NM_018449:exon14:c.G1322A:p.R441Q	ENST00000379225.2,ENST00000629575.2,ENST00000360802.5,ENST00000379238.5,ENST00000412543.5,ENSG00000137073.21	.	9p13.3	.	.	.	.	.	rs79607078	.	.	0.051495	0.0516	0.0131789	.	0.00408822	277138	0.04024390	18860	0.03128644	0.03521127	.	-0.2987	.	0.021,D	0.998,D	1.0,D	0.999999,D	0.000000,D	2.78,M	0.78,T	14.654	2.610	4.975	7.589758,34	5.53	.	VDB=0.399863;SGB=-0.693141;RPB=0.997721;MQB=1.57754e-10;MQSB=0.89305;BQB=0.978632;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=91;DP4=14,25,17,20;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:76:255,0,255:39,37	C	T	0	1	.	.	.	.	.	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000137073-UBAP2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 28.4	cytoplasm	.	BS1, PP3
L	9	35906583	.	T	TCCACCACCACCA	222	PASS	HRCT1	.	exonic	NM_001039792	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCA:p.L100delinsLHHHH	ENSG00000196196.2,ENST00000354323.2	.	9p13.3	.	.	.	.	Score=375;Name="4819446:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.07608264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937363,8.820	.	.	INDEL;VDB=0.989607;SGB=-0.556411;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=175;DP4=0,51,0,58;IDV=19;IMF=0.666667;MinDP=12;AN=16;AC=1	GT:DP:PL:AD	0/0:12:.:.	0/0:9:132,.,.:5,.	0/0:39:232,.,.:20,.	0/0:18:249,.,.:1,.	./.:.:.:.	0/0:15:96,.,.:10,.	0/0:32:.:.	0/0:7:169,.,.:1,.	0/3:21:147,.,.,.,.,.,0,.,.,230:14,.,.,7	TCCA	T,TCCACCACCA,TCCACCACCACCACCA	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000196196-HRCT1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 10.0	nucleus but not nucleoli	.	.
L	9	36669341	rs56176668	A	G	222	PASS	MELK	Maternal embryonic leucine zipper kinase	exonic	NM_001256685,NM_001256687,NM_001256688,NM_001256689,NM_001256690,NM_001256691,NM_001256692,NM_001256693,NM_014791	.	synonymous SNV	MELK:NM_001256692:exon12:c.A1050G:p.K350K,MELK:NM_001256688:exon13:c.A1230G:p.K410K,MELK:NM_001256690:exon13:c.A1230G:p.K410K,MELK:NM_001256691:exon13:c.A1203G:p.K401K,MELK:NM_001256693:exon13:c.A861G:p.K287K,MELK:NM_001256685:exon14:c.A1320G:p.K440K,MELK:NM_001256687:exon14:c.A1299G:p.K433K,MELK:NM_001256689:exon14:c.A1347G:p.K449K,MELK:NM_014791:exon15:c.A1443G:p.K481K	ENST00000298048.6,ENST00000536987.5,ENST00000627766.2,ENST00000541717.4,ENSG00000165304.7,ENST00000536329.5,ENST00000543751.5,ENST00000626154.2,ENST00000536860.5,ENST00000545008.5	.	9p13.2	.	.	.	.	.	rs56176668	.	.	0.00996678	0.0129	0.014377	0.0085	0.00900832	272970	0.01148991	18538	0.01263117	0.01232394	.	0.1011	.	.	.	.	.	.	.	.	.	0.871	2.178	.	4.25	.	VDB=0.065806;SGB=-0.680642;RPB=0.226537;MQB=0.000261259;MQSB=0.769203;BQB=0.977066;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=89;DP4=21,9,20,12;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:23:255,0,255:11,12	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:39:255,0,255:19,20	A	G	0	2	Maternal embryonic leucine zipper kinase, 607025	.	.	.	9136115|23851392|8724849	GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_CYCLE_PHASE_TRANSITION;GO_CELL_DEATH;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_CELL_DEATH_IN_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELL_PROLIFERATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_CELL_CYCLE;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS	GO_CYTOPLASMIC_REGION;GO_CELL_CORTEX	GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_KINASE_ACTIVITY;GO_NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_LIPID_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Moderate to strong granular cytoplasmic staining was observed in most normal tissues. Ovarian stroma cells and smooth muscle cells were weakly stained.	http://www.proteinatlas.org/ENSG00000165304-MELK/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	tonsil: 9.9	.	.	.
H	9	37762066	rs376110227	G	C	222	PASS	TRMT10B	.	exonic	NM_001286950,NM_001286952,NM_001286953,NM_144964	.	missense SNV	TRMT10B:NM_001286950:exon2:c.G138C:p.E46D,TRMT10B:NM_001286952:exon2:c.G138C:p.E46D,TRMT10B:NM_001286953:exon2:c.G50C:p.S17T,TRMT10B:NM_144964:exon2:c.G138C:p.E46D	ENST00000537911.5,ENST00000537016.5,ENST00000538370.5,ENST00000377753.6,ENST00000540557.1,ENST00000488673.6,ENSG00000165275.9,ENST00000297994.3,ENST00000540616.5,ENST00000377754.6,ENSG00000255872.3	.	9p13.2	.	.	.	.	.	rs376110227	.	.	0.0149502	0.0129	0.00279553	.	0.00037942	276740	0.00381639	18866	0.00369219	0.00264085	.	0.5732	.	0.037,D	0.017,B	0.025,B	1,N	0.000934,N	1.285,L	1.41,T	5.295	0.266	0.210	0.989185,10.60	.	.	VDB=0.0147072;SGB=-0.692067;RPB=0.995176;MQB=9.70858e-06;MQSB=0.963194;BQB=0.741916;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=48;DP4=5,14,7,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:39:255,0,255:19,20	G	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues were weakly stained or negative. Most squamous epithelial cells showed moderate staining.	http://www.proteinatlas.org/ENSG00000165275-TRMT10B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 7.1	nucleus but not nucleoli; plasma membrane	.	.
L	9	39118189	rs568297586	C	T	29.4664	PASS	CNTNAP3	Contactin-associated protein-like 3	exonic	NM_033655	.	synonymous SNV	CNTNAP3:NM_033655:exon14:c.G2148A:p.L716L	ENST00000377659.1,ENST00000377656.6,ENST00000297668.10,ENST00000448573.2,ENST00000443583.6,ENSG00000106714.17,ENST00000358144.6	.	9p13.1	.	.	.	Score=0.989467;Name=chr9:65584333	.	rs568297586	.	.	0.00498339	0.004	0.000798722	.	0.00018305	267682	0.00264208	18546	0.00349786	0.00880282	.	1.0324	.	.	.	.	.	.	.	.	.	0.556	-0.149	1.401858,12.80	.	.	VDB=0.624078;SGB=-0.651104;RPB=0.934728;MQB=0.000741007;MQSB=0.482841;BQB=0.339596;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=31;DP4=12,4,5,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:19:.:.	0/0:16:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:24:64,0,255:16,8	C	T	0	1	Contactin-associated protein-like 3, 610517	.	.	.	11214970|12093160|16845472	GO_CELL_RECOGNITION;GO_BIOLOGICAL_ADHESION	.	.	.	.	.	.	Cytoplasmic expression in a subset of tissues including myocytes and the CNS.	http://www.proteinatlas.org/ENSG00000106714-CNTNAP3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 6.7	.	.	BP7
L	9	43885064	rs201256223	G	A	222	PASS	CNTNAP3B	.	exonic	NM_001201380	.	missense SNV	CNTNAP3B:NM_001201380:exon15:c.G2357A:p.R786H	ENST00000637145.1,ENST00000479351.1,ENST00000377564.3,ENST00000489789.2,ENSG00000283541.1,ENSG00000154529.10,ENST00000377561.2	.	9p11.2	.	.	.	Score=0.993441;Name=chr9:65584332	.	rs201256223	.	.	0.0315615	0.0347	0.00778754	.	0.00303403	188528	0.02823970	13350	0.01361338	0.01675485	.	-0.0503	.	0.554,T	.	.	0.999809,N	.	0.72,N	2.26,T	4.6113	-0.875	0.276	.	.	.	VDB=0.0193428;SGB=-0.690438;RPB=0.391772;MQB=0.0403231;MQSB=0.311613;BQB=0.64766;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=31;DP4=3,5,3,14;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:25:255,0,174:8,17	G	A	0	1	.	.	.	.	.	GO_BIOLOGICAL_ADHESION	.	.	.	.	.	.	Cytoplasmic expression in a subset of tissues including myocytes and the CNS.	http://www.proteinatlas.org/ENSG00000154529-CNTNAP3B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 7.8	.	.	BP4
L	9	71437571	rs149605332	A	G	155	PASS	PIP5K1B	Phosphatidylinositol-4-phosphate 5-kinase, type I, beta	exonic	NM_001278253,NM_003558	.	missense SNV	PIP5K1B:NM_001278253:exon3:c.A41G:p.K14R,PIP5K1B:NM_003558:exon4:c.A41G:p.K14R	ENST00000437200.5,ENSG00000236733.1,ENST00000442103.1,ENST00000541509.5,ENST00000440050.5,ENSG00000107242.17,ENST00000265382.7,ENST00000478500.3,ENST00000377284.5	.	9q21.11	.	.	Score=930;Name=V$SRY_02	.	.	rs149605332	.	.	0.0481728	0.0516	0.0105831	.	0.00320735	276864	0.03846971	18820	0.04352895	0.04454545	.	1.8536	.	0.011,D	0.057,B	0.454,P	0.982898,N	0.633485,N	2.015,M	0.87,T	12.0893	2.177	3.010	2.238635,17.76	5.37	.	VDB=0.257832;SGB=-0.683931;RPB=0.993391;MQB=4.16501e-05;MQSB=0.5;BQB=0.681797;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=39;DP4=13,2,13,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:28:188,0,253:15,13	A	G	0	1	Phosphatidylinositol-4-phosphate 5-kinase, type I, beta, 602745	.	.	.	8596916|8841185|7581382|27588481|9535851|9177790	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_PHOSPHORYLATION	GO_CELL_TRAILING_EDGE;GO_CELL_PROJECTION	GO_KINASE_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_ENDOCYTOSIS;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_RHOA_PATHWAY;PID_WNT_CANONICAL_PATHWAY;PID_RAC1_PATHWAY	BIOCARTA_RHO_PATHWAY	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	Most normal tissues displayed weak to moderate cytoplasmic immunoreactivity. Thyroid, trophoblasts and skeletal muscle cells were strongly stained. Most cells in CNS and lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000107242-PIP5K1B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	duodenum: 33.5	.	.	BS1
H	9	71863009	.	C	T	222	PASS	TJP2	Tight junction protein 2	exonic	NM_001170414,NM_001170415,NM_001170416,NM_004817,NM_201629	.	missense SNV	TJP2:NM_001170415:exon19:c.C2761T:p.R921C,TJP2:NM_001170416:exon19:c.C2842T:p.R948C,TJP2:NM_004817:exon19:c.C2749T:p.R917C,TJP2:NM_201629:exon19:c.C2749T:p.R917C,TJP2:NM_001170414:exon20:c.C2680T:p.R894C	ENST00000377245.8,ENST00000535702.6,ENST00000348208.8,ENST00000636438.1,ENST00000539225.2,ENST00000453658.6,ENST00000636247.1,ENSG00000119139.17	CpG: 19	9q21.11	.	.	.	.	.	.	.	.	.	.	.	.	0.00001083	277082	.	.	.	.	.	0.4709	.	0.0,D	0.981,D	1.0,D	1,D	0.000028,D	2.67,M	2.17,T	20.8598	2.937	4.967	8.399924,35	6.16	0.0761504043177	VDB=0.376211;SGB=-0.693139;RPB=0.100584;MQB=0.000410694;MQSB=0.563594;BQB=0.727094;MQ0F=0;ICB=1;HOB=0.5;MQ=38;DP=98;DP4=26,19,25,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:86:.:.	0/0:76:.:.	0/0:65:.:.	0/0:69:.:.	0/0:51:.:.	0/0:78:.:.	0/1:81:255,0,255:45,36	C	T	0	1	Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3)	.	.	.	8824195|12704386|11018256|7951235|18616530|10601346|20868680|24614073|12403786|20602916|18172007|25921221	GO_ENDOTHELIAL_CELL_DEVELOPMENT;GO_DIGESTION;GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_HIPPO_SIGNALING;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_GUANOSINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_BONE_DEVELOPMENT;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ENDOTHELIUM_DEVELOPMENT;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_GDP_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_ESTABLISHMENT_OF_ENDOTHELIAL_BARRIER;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_GMP_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_TISSUE_DEVELOPMENT;GO_RIBONUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_INTESTINAL_ABSORPTION;GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION	GO_APICAL_JUNCTION_COMPLEX;GO_CELL_JUNCTION;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION	GO_PROTEIN_C_TERMINUS_BINDING;GO_KINASE_ACTIVITY;GO_BINDING_BRIDGING;GO_PHOSPHOTRANSFERASE_ACTIVITY_PHOSPHATE_GROUP_AS_ACCEPTOR;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_NUCLEOTIDE_KINASE_ACTIVITY;GO_NUCLEOBASE_CONTAINING_COMPOUND_KINASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_TIGHT_JUNCTION;KEGG_VIBRIO_CHOLERAE_INFECTION	PID_MYC_REPRESS_PATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_SIGNALING_BY_HIPPO;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	General cytoplasmic expression frequently combined with membranous expression.	http://www.proteinatlas.org/ENSG00000119139-TJP2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 46.8	plasma membrane; cell junctions; cytoplasm	.	PM2, PP3
H*	9	72874068	rs139961466	C	G	222	PASS	SMC5	Structural maintenance of chromosomes 5-like 1	exonic	NM_015110	.	missense SNV	SMC5:NM_015110:exon1:c.C74G:p.S25W	ENSG00000198887.8,ENST00000361138.6	CpG: 70	9q21.12	.	.	Score=925;Name=V$HSF2_01	.	.	rs139961466	.	.	.	.	.	.	0.00000415	241074	0.00005853	17086	0.00019433	.	.	.	.	0.002,D	0.56,P	0.888,P	0.89615,D	0.776552,N	0,N	2.16,T	9.979	2.233	2.535	4.617938,24.5	4.1	0.0321850563906	VDB=0.114131;SGB=-0.693147;RPB=0.345964;MQB=2.846e-12;MQSB=0.122185;BQB=0.929895;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=142;DP4=40,14,23,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:101:255,0,255:54,46	C	G	0	1	Structural maintenance of chromosomes 5-like 1, 609386	.	.	.	26983541|19343044|9628581|15793567	GO_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MITOTIC_SISTER_CHROMATID_SEPARATION;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_HOMEOSTATIC_PROCESS;GO_TELOMERE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_SENESCENCE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_AGING;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_DNA_REPAIR;GO_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIVISION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_MITOTIC_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_TELOMERE_MAINTENANCE_VIA_RECOMBINATION;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_PROTEIN_SUMOYLATION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_DNA_RECOMBINATION;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NON_RECOMBINATIONAL_REPAIR;GO_CELL_CYCLE;GO_MITOTIC_RECOMBINATION;GO_CELL_AGING;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_RECOMBINATIONAL_REPAIR;GO_REGULATION_OF_SISTER_CHROMATID_COHESION;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_REGULATION_OF_SISTER_CHROMATID_SEGREGATION;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_SEX_CHROMOSOME;GO_NUCLEAR_BODY;GO_PML_BODY;GO_CELL_JUNCTION;GO_NUCLEOPLASM_PART;GO_CONDENSED_CHROMOSOME;GO_CHROMOSOME_TELOMERIC_REGION;GO_SITE_OF_DOUBLE_STRAND_BREAK	GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000198887-SMC5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 21.6	nucleus but not nucleoli	.	PM2, PP3
H	9	86403597	rs757928443	CAA	C	116	PASS	GKAP1	G kinase-anchoring protein 1	splicing	NM_001135953,NM_025211	.	.	.	ENST00000491634.1,ENST00000388782.8,ENSG00000165113.12,ENST00000376365.7,ENST00000376371.6	.	9q21.32	.	.	.	.	.	rs757928443	.	.	.	.	.	.	0.00021527	241552	0.00277743	15842	0.00175029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.176841;SGB=-0.69168;MQSB=0.999347;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=39;DP4=7,7,8,11;IDV=21;IMF=0.538462;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:33:149,0,120:14,19	CAA	C	0	1	G kinase-anchoring protein 1, 611356	.	.	.	16015647|10671526	.	GO_GOLGI_APPARATUS	.	.	.	.	.	Cytoplasmic expression in testis.	http://www.proteinatlas.org/ENSG00000165113-GKAP1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skeletal muscle: 13.1	cytoplasm; nucleoli; centrosome	.	PM2
L	9	90534188	.	C	CGACATCTTGTCTCCCAGA	222	PASS	SPATA31C1	.	exonic	NM_001145124	.	nonframeshift insertion	SPATA31C1:NM_001145124:exon2:c.208_209insGACATCTTGTCTCCCAGA:p.R70delinsRHLVSQS	ENST00000602681.5,ENST00000420021.2,ENSG00000230246.7	.	9q22.1	.	.	.	Score=0.991167;Name=chr9:90725189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.285207;SGB=-0.693147;MQSB=0.487603;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=258;DP4=43,52,39,68;IDV=2;IMF=0.00775194;MinDP=100;AN=14;AC=1	GT:DP:PL:AD	0/0:174:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	./.:.:.:.	./.:.:.:.	0/0:102:.:.	0/0:102:.:.	0/1:202:255,0,255:95,98	C	CGACATCTTGTCTCCCAGA	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2, PM4
L	9	95610283	rs10992490	C	T	222	PASS	ZNF484	.	exonic	NM_001007101,NM_001261458,NM_001261459,NM_001261460,NM_031486	.	synonymous SNV	ZNF484:NM_001007101:exon4:c.G678A:p.P226P,ZNF484:NM_001261458:exon4:c.G792A:p.P264P,ZNF484:NM_031486:exon5:c.G786A:p.P262P,ZNF484:NM_001261459:exon6:c.G678A:p.P226P,ZNF484:NM_001261460:exon6:c.G678A:p.P226P	ENSG00000127081.13,ENSG00000187984.12,ENST00000473204.5,ENST00000395505.6,ENST00000395506.7,ENST00000332591.6,ENST00000375495.7	.	9q22.31	.	.	.	.	.	rs10992490	.	.	0.0149502	0.0109	0.00219649	0.0002	0.00125321	276888	0.01584694	18868	0.01185387	0.01320423	.	.	.	.	.	.	.	.	.	.	.	-0.180	-2.283	1.381894,12.69	.	.	VDB=0.166927;SGB=-0.691153;RPB=0.274563;MQB=0.418259;MQSB=0.305971;BQB=0.990465;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=59;DP4=16,14,13,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:36:.:.	0/0:31:.:.	0/0:50:.:.	0/1:48:255,0,255:30,18	C	T	0	1	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Normal tissues generally showed moderate cytoplasmic positivity with additional nucleolar staining in many cases. Intestinal and lymphoid cells were strongly stained. The liver, endocrine glands, prostate, myocytes and the CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000127081-ZNF484/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 2.8	nucleus but not nucleoli; nuclear membrane; cytoplasm	.	BP7
L	9	95610301	rs182903285	G	A	222	PASS	ZNF484	.	exonic	NM_001007101,NM_001261458,NM_001261459,NM_001261460,NM_031486	.	synonymous SNV	ZNF484:NM_001007101:exon4:c.C660T:p.Y220Y,ZNF484:NM_001261458:exon4:c.C774T:p.Y258Y,ZNF484:NM_031486:exon5:c.C768T:p.Y256Y,ZNF484:NM_001261459:exon6:c.C660T:p.Y220Y,ZNF484:NM_001261460:exon6:c.C660T:p.Y220Y	ENSG00000127081.13,ENSG00000187984.12,ENST00000473204.5,ENST00000395505.6,ENST00000395506.7,ENST00000332591.6,ENST00000375495.7	.	9q22.31	.	.	.	.	.	rs182903285	.	.	0.00498339	0.0089	0.00179712	7.7e-05	0.00044049	276964	0.00498145	18870	0.00466382	0.00352113	.	.	.	.	.	.	.	.	.	.	.	-0.808	0.474	.	.	.	VDB=0.778485;SGB=-0.693079;RPB=0.400537;MQB=0.850265;MQSB=0.786583;BQB=0.975276;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=66;DP4=15,5,18,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:36:.:.	0/0:31:.:.	0/0:50:.:.	0/1:49:255,0,255:20,29	G	A	0	1	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Normal tissues generally showed moderate cytoplasmic positivity with additional nucleolar staining in many cases. Intestinal and lymphoid cells were strongly stained. The liver, endocrine glands, prostate, myocytes and the CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000127081-ZNF484/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 2.8	nucleus but not nucleoli; nuclear membrane; cytoplasm	.	BP7
H	9	95846980	rs117068327	G	A	222	PASS	SUSD3	SUSHI domain-containing protein 3	exonic	NM_001287005,NM_001287006,NM_001287007,NM_001287008,NM_145006	.	missense SNV	SUSD3:NM_001287007:exon3:c.G398A:p.G133E,SUSD3:NM_001287006:exon4:c.G587A:p.G196E,SUSD3:NM_001287008:exon4:c.G530A:p.G177E,SUSD3:NM_145006:exon5:c.G719A:p.G240E,SUSD3:NM_001287005:exon6:c.G680A:p.G227E	ENST00000375469.5,ENST00000471462.2,ENST00000375472.7,ENSG00000157303.10,ENST00000617293.4	.	9q22.31	.	.	.	.	.	rs117068327	.	.	0.0182724	0.0109	0.00219649	.	0.00131118	266936	0.01894065	18162	0.02040420	0.01878354	.	.	.	0.049,D	0.021,B	0.046,B	1,N	0.681713,N	1.67,L	-0.09,T	5.3798	0.822	0.774	.	2.68	.	VDB=6.25945e-05;SGB=-0.693147;RPB=0.8203;MQB=2.12102e-11;MQSB=0.993646;BQB=0.969694;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=101;DP4=10,26,16,31;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:83:255,0,255:36,47	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	A majority of normal tissues displayed moderate cytoplasmic and occasional nuclear positivity. Bone marrow, red blood cells and subset of cells in red pulp of spleen exhibited strong cytoplasmic immunoreactivity. Pancreas, female genitalia, lymph node and tonsil were negative.	http://www.proteinatlas.org/ENSG00000157303-SUSD3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 42.9	nucleus	.	BP4
L	9	96060243	rs754865802	G	A	222	PASS	WNK2	WNK lysine deficient protein kinase 2	exonic	NM_001282394,NM_006648	.	synonymous SNV	WNK2:NM_006648:exon23:c.G5817A:p.T1939T,WNK2:NM_001282394:exon24:c.G5928A:p.T1976T	ENST00000474009.5,ENSG00000165238.16,ENST00000411624.5,ENST00000395477.6,ENST00000453718.2,ENST00000479696.1,ENST00000427277.6,ENST00000448251.5,ENST00000432730.5,ENST00000297954.8	.	9q22.31	.	.	Score=806;Name=V$RREB1_01	.	.	rs754865802	.	.	.	.	.	.	0.00001097	182294	.	.	.	.	.	-0.5634	.	.	.	.	1,D	.	.	.	2.5967	-0.938	-3.807	1.382819,12.70	.	.	VDB=0.0813985;SGB=-0.693147;RPB=0.99633;MQB=2.44476e-17;MQSB=0.648757;BQB=0.887696;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=143;DP4=25,26,31,21;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:103:255,0,255:51,52	G	A	0	1	WNK lysine deficient protein kinase 2, 606249	.	.	.	11280764|11214970|21733846|10828064	GO_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_SODIUM_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in several tissues most abundant in salivary gland, glandular cells in the gastrointestinal tract, bile ducts, exocrine glandular cells and placenta.	http://www.proteinatlas.org/ENSG00000165238-WNK2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	salivary gland: 21.5	cytoplasm	.	BP7, PM2
L	9	97080941	.	CAGG	C	183	PASS	NUTM2F	.	exonic	NM_017561	.	nonframeshift deletion	NUTM2F:NM_017561:exon7:c.2074_2076del:p.692_692del	ENST00000341207.5,ENSG00000130950.13,ENST00000253262.8	.	9q22.32	.	.	.	Score=0.99043;Name=chr9:99659395	.	.	.	.	.	.	.	.	.	.	.	.	0.00505247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0336344;SGB=-0.693147;MQSB=0.000600227;MQ0F=0;MQ=32;DP=558;DP4=16,0,201,72;IDV=3;IMF=0.0110294;MinDP=100;AN=18;AC=4	GT:DP:PL:AD	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:152:.:.	0/0:135:.:.	0/0:100:.:.	0/0:100:.:.	1/1:138:189,240,0:8,130	1/1:151:210,255,0:8,143	CAGG	C	2	0	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000130950-NUTM2F/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM4
L	9	98690403	.	A	G	222	PASS	ERCC6L2	ERCC6-like 2	exonic	NM_001010895,NM_020207	.	missense SNV	ERCC6L2:NM_001010895:exon10:c.A1609G:p.K537E,ERCC6L2:NM_020207:exon10:c.A1609G:p.K537E	ENST00000479391.6,ENST00000456993.5,ENST00000426805.1,ENST00000288985.11,ENST00000466840.5,ENSG00000182150.15	.	9q22.32	.	.	Score=932;Name=V$GATA3_01	.	Score=181;Name="4895840:L3(LINE)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0106	Helicase, C-terminal;P-loop containing nucleoside triphosphate hydrolase	0.0,D	0.73,P	0.994,D	0.997774,D	0.000043,D	.	-1.47,T	13.698	2.272	6.165	5.899314,27.5	4.54	0.233787924395	VDB=0.38282;SGB=-0.692352;RPB=0.998896;MQB=1.88918e-06;MQSB=0.904523;BQB=0.753763;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=58;DP4=16,7,16,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:44:255,0,255:23,21	A	G	0	1	Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive	.	.	.	24507776|27185855	.	.	.	.	.	.	.	Most normal cells were weakly stained or negative. Gastrointestinal tract, liver, exocrine pancreas, placenta, male genitals and neuronal cells showed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000182150-ERCC6L2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 11.9	nucleus but not nucleoli; cytoplasm	.	BP1, PM1, PM2, PP3
M	9	98774994	.	G	A	222	PASS	ERCC6L2	ERCC6-like 2	exonic	NM_020207	.	missense SNV	ERCC6L2:NM_020207:exon19:c.G4195A:p.E1399K	ENST00000320486.6,ENSG00000182150.15	.	9q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.0,B	0.001,B	0.99487,N	0.046885,N	-0.945,N	.	8.8514	0.421	2.336	.	2.74	0.000962515281404	VDB=0.150962;SGB=-0.692352;RPB=0.778519;MQB=5.58749e-07;MQSB=0.670365;BQB=0.984474;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=63;DP4=15,14,14,7;MinDP=16;AN=18;AC=1	GT:DP:PL:AD	0/0:16:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:50:255,0,255:29,21	G	A	0	1	Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive	.	.	.	24507776|27185855	.	.	.	.	.	.	.	Most normal cells were weakly stained or negative. Gastrointestinal tract, liver, exocrine pancreas, placenta, male genitals and neuronal cells showed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000182150-ERCC6L2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 11.9	nucleus but not nucleoli; cytoplasm	.	BP1, BP4, PM2
L	9	100616691	.	GGCTGCC	G	106	PASS	FOXE1	Forkhead box E1 (thyroid transcription factor-2)	exonic	NM_004473	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.496_501del:p.166_167del	ENSG00000178919.8,ENST00000375123.4	CpG: 252	9q22.33	.	.	.	.	Score=324;Name="4899795:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00932763	0.00239234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0400035;SGB=-0.686358;MQSB=0.373437;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=145;DP4=21,37,11,24;IDV=2;IMF=0.0344828;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:67:.:.	0/0:83:.:.	0/0:61:.:.	0/1:35:123,0,255:21,14	0/0:50:.:.	0/0:55:.:.	0/0:54:.:.	0/1:58:140,0,255:37,21	GGCTGCC	G	0	2	Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant	.	.	.	2918525|16882747|15367491|17717707|12165566|9169137|9697705|9697704|8817449|9520319|19779022|25381600|1307742|15494458|21177256|9052737|9214635	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_EPITHELIUM_DEVELOPMENT;GO_EPIDERMIS_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_THYMUS_DEVELOPMENT;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_THYROID_HORMONE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_PALATE_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_SKIN_EPIDERMIS_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_MOLTING_CYCLE;GO_EMBRYONIC_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_EPIDERMIS_DEVELOPMENT;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_GLAND_DEVELOPMENT;GO_SKIN_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_HORMONE_METABOLIC_PROCESS;GO_THYROID_GLAND_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_THYROID_HORMONE_GENERATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000178919-FOXE1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 18.4	.	.	BP3
L	9	100616694	rs763695737	TGCCGCA	T	222	PASS	FOXE1	Forkhead box E1 (thyroid transcription factor-2)	exonic	NM_004473	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.499_504del:p.167_168del	ENST00000375123.4,ENSG00000178919.8	CpG: 252	9q22.33	.	.	.	.	Score=324;Name="4899795:(CCG)n(Simple_repeat)"	rs763695737	.	.	.	.	.	.	0.00020644	62972	0.00036738	2722	0.03829705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0574279;SGB=-0.693145;MQSB=0.560724;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=506;DP4=56,87,60,151;IDV=7;IMF=0.0714286;MinDP=31;AN=18;AC=6	GT:DP:PL:AD	0/0:50:.:.	0/1:63:255,0,202:22,39	0/1:89:255,0,248:43,46	0/1:59:255,0,181:20,39	0/0:31:.:.	0/1:53:255,0,215:25,28	0/0:55:.:.	0/1:31:255,0,124:10,21	0/1:59:255,0,200:23,36	TGCCGCA	T	0	6	Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant	.	.	.	2918525|16882747|15367491|17717707|12165566|9169137|9697705|9697704|8817449|9520319|19779022|25381600|1307742|15494458|21177256|9052737|9214635	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_EPITHELIUM_DEVELOPMENT;GO_EPIDERMIS_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_THYMUS_DEVELOPMENT;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_THYROID_HORMONE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_PALATE_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_SKIN_EPIDERMIS_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_MOLTING_CYCLE;GO_EMBRYONIC_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_EPIDERMIS_DEVELOPMENT;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_GLAND_DEVELOPMENT;GO_SKIN_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_HORMONE_METABOLIC_PROCESS;GO_THYROID_GLAND_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_THYROID_HORMONE_GENERATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000178919-FOXE1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 18.4	.	.	BP3
H*	9	101984010	rs201959100	G	A	225	PASS	ALG2	Alg2, S. cerevisiae, homolog of	exonic	NM_033087	.	missense SNV	ALG2:NM_033087:exon1:c.C167T:p.P56L	ENST00000238477.5,ENST00000476832.1,ENSG00000119523.9	CpG: 106	9q22.33	.	.	Score=811;Name=V$ER_Q6	.	.	rs201959100	Benign;not_specified;RCV000428835.1;MedGen;CN169374	.	0.00996678	0.0188	0.00439297	.	0.00089281	249774	0.00973355	18390	0.00252623	0.00176056	.	.	Glycosyltransferase subfamily 4, N-terminal domain	0.036,D	0.614,P	0.969,D	1,D	0.000002,D	2.37,M	-1.14,T	17.743	2.432	8.587	4.458611,24.2	4.66	.	VDB=0.981512;SGB=-0.693147;MQSB=0.982574;MQ0F=0;MQ=46;DP=134;DP4=0,0,70,32;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	1/1:102:255,255,0:0,102	G	A	1	0	?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive	.	.	.	23404334|27626380|24461433|12684507	GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_MANNOSYLATION;GO_OLIGOSACCHARIDE_LIPID_INTERMEDIATE_BIOSYNTHETIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_CALCIUM_ION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_MANNOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_PROTEIN_N_TERMINUS_BINDING	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	Cytoplasmic expression in several tissues including glandular cells of seminal vesicle, epididymis, uterus and exocrine pancreas.	http://www.proteinatlas.org/ENSG00000119523-ALG2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 35.4	nucleus but not nucleoli; cytoskeleton (actin filaments)	.	BP6, PM1, PP3
H	9	103108606	rs117631862	G	A	222	PASS	TEX10	Testis-expressed gene 10	splicing	NM_001161584,NM_017746	NM_001161584:exon4:c.903-9C>T;NM_017746:exon4:c.894-9C>T	.	.	ENST00000374902.8,ENSG00000136891.13,ENST00000429235.1,ENST00000535814.5	.	9q31.1	.	.	.	.	.	rs117631862	.	.	0.0182724	0.0188	0.00579073	.	0.00144173	251088	0.01543943	17682	0.01515740	0.01672535	0,0.022	0.1479	.	.	.	.	.	.	.	.	.	0.439	0.344	.	2.68	.	VDB=0.264986;SGB=-0.692914;RPB=0.998572;MQB=3.93955e-06;MQSB=0.863088;BQB=0.714714;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=73;DP4=12,16,14,11;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/1:53:255,0,255:28,25	G	A	0	1	Testis-expressed gene 10, 616717	.	.	.	25936917|21326211	GO_RIBOSOME_BIOGENESIS;GO_RRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS	GO_NUCLEAR_ENVELOPE;GO_TRANSFERASE_COMPLEX;GO_HISTONE_METHYLTRANSFERASE_COMPLEX;GO_MLL1_2_COMPLEX;GO_METHYLTRANSFERASE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_ENVELOPE;GO_NUCLEOLUS;GO_NUCLEAR_MEMBRANE	.	.	.	.	.	Gastrointestinal tract, hepatocytes, renal tubules, exocrine glandular cells in pancreas, neuronal cells in cerebrum and Leydig cells of testis showed weak to moderate cytoplasmic positivity. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000136891-TEX10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 21.7	.	.	.
L*	9	107591224	rs199980051	G	A	222	PASS	ABCA1	ATP-binding cassette 1	exonic	NM_005502	.	synonymous SNV	ABCA1:NM_005502:exon15:c.C2088T:p.S696S	ENST00000374736.7,ENST00000494467.1,ENSG00000165029.15	.	9q31.1	.	.	Score=763;Name=V$PPARA_01	.	.	rs199980051	.	.	.	.	.	0.0002	0.00010466	277088	0.00005302	18860	.	0.00088028	.	-0.0725	.	.	.	.	.	.	.	.	.	0.092	1.547	1.543077,13.54	.	.	VDB=0.747341;SGB=-0.693145;RPB=0.450776;MQB=2.77689e-09;MQSB=0.531181;BQB=0.731285;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=107;DP4=28,17,22,19;MinDP=35;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:75:.:.	0/0:80:.:.	0/0:72:.:.	0/0:35:.:.	0/0:55:.:.	0/0:50:.:.	0/0:75:.:.	0/1:86:255,0,255:45,41	G	A	0	1	{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3), Autosomal dominant; HDL deficiency, type 2, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive	.	.	.	15790791|9006906|10431237|10431236|16543947|17322896|21480869|12624133|15297675|9020838|12084722|3005356|12111381|15269218|8209894|11476965|12111371|4000967|18354102|16372134|12702168|1571556|10092505|11476961|10525055|11030331|8088782|7627690|9888879|10760292|20466882|14747463|15163665|10655069|10799318|22012398|20466885|10535983|10968783|10431238|10884428|11423537|11700048|12509412|11355874|20686565|11162504|15269217|12511593|11896206|10431227|20488992|10970803|11940086	GO_ION_TRANSPORT;GO_REGULATION_OF_LIPID_STORAGE;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_ACID_CHEMICAL;GO_STEROL_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_SECRETION_BY_CELL;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_AMIDE_TRANSPORT;GO_RESPONSE_TO_FLUID_SHEAR_STRESS;GO_VESICLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PROTEIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_VACUOLAR_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_STEROL_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_PROTEIN_LIPID_COMPLEX_ASSEMBLY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_PHAGOCYTOSIS_ENGULFMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_PEPTIDE_SECRETION;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTERLEUKIN_1_PRODUCTION;GO_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION;GO_POSITIVE_REGULATION_OF_LIPID_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_CYTOKINE_PRODUCTION;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_LIPID_HOMEOSTASIS;GO_SECRETION;GO_ANION_TRANSPORT;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_CHOLESTEROL_EFFLUX;GO_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_RESPONSE_TO_RETINOIC_ACID;GO_NITROGEN_COMPOUND_TRANSPORT;GO_SECRETORY_GRANULE_ORGANIZATION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_RESPONSE_TO_BACTERIUM;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_STEROL;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PROTEIN_LIPID_COMPLEX_SUBUNIT_ORGANIZATION;GO_ANION_HOMEOSTASIS;GO_LIPOPROTEIN_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_LIPID_TRANSLOCATION;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_LIPID_TRANSPORT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_RESPONSE_TO_CHOLESTEROL;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_RESPONSE_TO_LOW_DENSITY_LIPOPROTEIN_PARTICLE;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STEROL;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_STEROL_TRANSPORT;GO_NEGATIVE_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_CYTOKINE_SECRETION;GO_RESPONSE_TO_LIPOPROTEIN_PARTICLE;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_RESPONSE_TO_DRUG;GO_VACUOLE_ORGANIZATION;GO_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS;GO_NEGATIVE_REGULATION_OF_LIPID_STORAGE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_PHOSPHOLIPID_TRANSPORT;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_LYTIC_VACUOLE_ORGANIZATION;GO_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_RETINOIC_ACID;GO_REVERSE_CHOLESTEROL_TRANSPORT;GO_REGULATION_OF_CHOLESTEROL_STORAGE;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_STEROL_TRANSPORT;GO_INTRACELLULAR_LIPID_TRANSPORT;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_MEMBRANE_INVAGINATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_LIPID_LOCALIZATION;GO_STEROL_METABOLIC_PROCESS;GO_RESPONSE_TO_NUTRIENT;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_ENDOCYTOSIS;GO_RESPONSE_TO_ALCOHOL;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_TRANSMEMBRANE_TRANSPORT;GO_PHAGOCYTOSIS;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_PHOSPHOLIPID_EFFLUX;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_LAMINAR_FLUID_SHEAR_STRESS;GO_PEPTIDE_TRANSPORT;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN	GO_PHAGOCYTIC_VESICLE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_HIGH_DENSITY_LIPOPROTEIN_PARTICLE;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_MEMBRANE_MICRODOMAIN;GO_SIDE_OF_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_PROTEIN_LIPID_COMPLEX;GO_MEMBRANE_REGION	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_LIPID_TRANSPORTER_ACTIVITY;GO_SYNTAXIN_BINDING;GO_STEROID_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_ALCOHOL_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_STEROL_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_STEROL_TRANSPORTER_ACTIVITY;GO_ATPASE_BINDING;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CHOLESTEROL_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOLIPID_TRANSPORTER_ACTIVITY;GO_SNARE_BINDING;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_APOLIPOPROTEIN_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_ATPASE_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	PID_RXR_VDR_PATHWAY	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	General membranous and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000165029-ABCA1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 24.8	nucleus but not nucleoli; vesicles	.	BP7
H*	9	113163128	rs199916059	G	A	80	PASS	SVEP1	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1	splicing	NM_153366	NM_153366:exon40:c.9822+6C>T	.	.	ENSG00000165124.17,ENST00000374469.5,ENST00000401783.6	.	9q31.3	.	.	.	.	.	rs199916059	.	.	.	.	.	8.5e-05	0.00002535	236702	0.00011862	16860	.	.	0,0.002	0.7941	.	.	.	.	.	.	.	.	.	-1.502	-0.759	.	.	.	VDB=0.664313;SGB=-0.636426;RPB=0.914584;MQB=0.0097687;MQSB=1;BQB=0.879351;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=22;DP4=11,1,7,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:19:113,0,212:12,7	G	A	0	1	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1, 611691	.	.	.	27626380|11062057|20236627|16206243	GO_BIOLOGICAL_ADHESION	.	GO_CALCIUM_ION_BINDING;GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression in several tissues, most abundant in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000165124-SVEP1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 31.8	.	.	PM2
H	9	113637741	rs147367410	A	G	209	PASS	LPAR1	Lysophosphatidic acid receptor 1	exonic	NM_001351397,NM_001351398,NM_001351399,NM_001351400,NM_001351401,NM_001351402,NM_001351403,NM_001351404,NM_001351405,NM_001351406,NM_001351407,NM_001351408,NM_001351409,NM_001351410,NM_001351411,NM_001351412,NM_001351413,NM_001351414,NM_001351415,NM_001351416,NM_001351417,NM_001351418,NM_001351419,NM_001351420,NM_001401,NM_057159	.	missense SNV	LPAR1:NM_001401:exon4:c.T1055C:p.I352T,LPAR1:NM_001351397:exon5:c.T1055C:p.I352T,LPAR1:NM_001351403:exon5:c.T1055C:p.I352T,LPAR1:NM_001351406:exon5:c.T1055C:p.I352T,LPAR1:NM_057159:exon5:c.T1055C:p.I352T,LPAR1:NM_001351399:exon6:c.T1055C:p.I352T,LPAR1:NM_001351402:exon6:c.T1055C:p.I352T,LPAR1:NM_001351404:exon6:c.T1055C:p.I352T,LPAR1:NM_001351405:exon6:c.T1055C:p.I352T,LPAR1:NM_001351408:exon6:c.T1055C:p.I352T,LPAR1:NM_001351411:exon6:c.T1055C:p.I352T,LPAR1:NM_001351414:exon6:c.T1055C:p.I352T,LPAR1:NM_001351416:exon6:c.T1055C:p.I352T,LPAR1:NM_001351417:exon6:c.T1055C:p.I352T,LPAR1:NM_001351419:exon6:c.T1055C:p.I352T,LPAR1:NM_001351420:exon6:c.T1055C:p.I352T,LPAR1:NM_001351398:exon7:c.T1055C:p.I352T,LPAR1:NM_001351400:exon7:c.T1055C:p.I352T,LPAR1:NM_001351401:exon7:c.T1055C:p.I352T,LPAR1:NM_001351407:exon7:c.T1055C:p.I352T,LPAR1:NM_001351409:exon7:c.T1055C:p.I352T,LPAR1:NM_001351410:exon7:c.T1055C:p.I352T,LPAR1:NM_001351412:exon7:c.T1055C:p.I352T,LPAR1:NM_001351413:exon7:c.T1055C:p.I352T,LPAR1:NM_001351415:exon7:c.T1055C:p.I352T,LPAR1:NM_001351418:exon7:c.T1055C:p.I352T	ENST00000374431.7,ENST00000374430.6,ENST00000358883.8,ENSG00000198121.13,ENST00000541779.5	.	9q31.3	.	.	.	.	.	rs147367410	.	.	0.0182724	0.0188	0.00379393	.	0.00119741	276430	0.01725053	18840	0.01962689	0.01672535	.	.	.	0.001,D	0.001,B	0.0,B	0.999994,D	0.019774,N	0.895,L	-1.07,T	15.7905	2.324	9.270	3.769936,23.4	6.06	.	VDB=0.0136015;SGB=-0.693021;RPB=0.153027;MQB=9.84439e-09;MQSB=0.366176;BQB=0.562573;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=22,5,26,1;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:54:242,0,255:27,27	A	G	0	1	Lysophosphatidic acid receptor 1, 602282	.	.	.	9804623|9070858|12037142|9721207|8922387|9069262|18325907|18066075	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_HINDBRAIN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_METENCEPHALON_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_CELL_CHEMOTAXIS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_ACTIVATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_GLIAL_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CRANIAL_NERVE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_FOREBRAIN_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_GLIOGENESIS;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_ENSHEATHMENT_OF_NEURONS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_OPTIC_NERVE_DEVELOPMENT;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NERVE_DEVELOPMENT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_LOCOMOTION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_CHEMOTAXIS;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_LIPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_CELL_PROJECTION_ORGANIZATION;GO_OLIGODENDROCYTE_DEVELOPMENT;GO_GLIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_OLIGODENDROCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CELLULAR_HOMEOSTASIS;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION_INVOLVED_IN_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CORPUS_CALLOSUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS	GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POSTSYNAPSE;GO_DENDRITIC_SHAFT;GO_NEURON_SPINE;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_SURFACE;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_SYNAPSE_PART;GO_ENDOSOME;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_LONG_CHAIN_FATTY_ACID_BINDING;GO_G_PROTEIN_ALPHA_SUBUNIT_BINDING;GO_FATTY_ACID_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_ORGANIC_ACID_BINDING;GO_BIOACTIVE_LIPID_RECEPTOR_ACTIVITY;GO_PDZ_DOMAIN_BINDING;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_MONOCARBOXYLIC_ACID_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION	PID_LYSOPHOSPHOLIPID_PATHWAY	BIOCARTA_AKAP13_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	.	http://www.proteinatlas.org/ENSG00000198121-LPAR1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 37.1	nucleus but not nucleoli; plasma membrane	.	.
L	9	114090168	rs777446444	C	T	222	PASS	OR2K2	.	exonic	NM_205859	.	synonymous SNV	OR2K2:NM_205859:exon1:c.G546A:p.A182A	ENST00000302681.1,ENSG00000171133.2,ENST00000374428.1	.	9q31.3	.	.	Score=867;Name=V$MEF2_02	.	.	rs777446444	.	.	.	.	.	.	0.00001632	245102	0.00017432	17210	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.423	-10.936	.	.	.	VDB=0.516545;SGB=-0.693147;RPB=0.74533;MQB=2.80081e-06;MQSB=0.98769;BQB=0.62168;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=102;DP4=31,6,38,10;MinDP=44;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:44:.:.	0/0:50:.:.	0/1:85:255,0,255:37,48	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000171133-OR2K2/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.1	.	.	BP7, PM2
L	9	114423924	rs187667042	G	A	184	PASS	GNG10	Guanine nucleotide-binding protein, gamma 10	exonic	NM_001017998,NM_001198664	.	missense SNV	GNG10:NM_001017998:exon1:c.G10A:p.G4R,GNG10:NM_001198664:exon1:c.G10A:p.G4R	ENSG00000244115.1,ENST00000374294.3,ENST00000374293.4,ENSG00000242616.3	CpG: 62	9q31.3	.	.	.	.	.	rs187667042	.	.	0.0398671	0.0327	0.0171725	0.0016	0.02144615	141424	0.02927478	6012	0.04821151	0.04812834	.	.	G-protein gamma-like domain	0.029,D	0.002,B	0.001,B	1,D	.	.	1.49,T	3.49	-0.185	2.431	1.595363,13.83	.	.	VDB=0.134895;SGB=-0.683931;RPB=0.158569;MQB=0.00083264;MQSB=0.922371;BQB=0.976675;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=57;DP4=13,6,19,4;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:217,0,176:8,13	0/0:10:.:.	0/0:14:.:.	0/0:10:.:.	0/1:21:206,0,255:11,10	G	A	0	2	Guanine nucleotide-binding protein, gamma 10, 604389	.	.	.	7606925|3113327|7665596	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_GLUCAGON;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_GLUCAGON_STIMULUS;GO_RESPONSE_TO_HORMONE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELLULAR_RESPONSE_TO_PEPTIDE	GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_HETEROTRIMERIC_G_PROTEIN_COMPLEX;GO_CATALYTIC_COMPLEX;GO_SIDE_OF_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_EXTRINSIC_COMPONENT_OF_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES	KEGG_CHEMOKINE_SIGNALING_PATHWAY	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_G_PROTEIN_ACTIVATION;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_INHIBITION_OF_INSULIN_SECRETION_BY_ADRENALINE_NORADRENALINE;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PLC_BETA;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_THROMBOXANE_SIGNALLING_THROUGH_TP_RECEPTOR;REACTOME_ADP_SIGNALLING_THROUGH_P2RY12;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_GPCR_LIGAND_BINDING;REACTOME_THROMBIN_SIGNALLING_THROUGH_PROTEINASE_ACTIVATED_RECEPTORS_PARS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_PROSTACYCLIN_SIGNALLING_THROUGH_PROSTACYCLIN_RECEPTOR;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_HEMOSTASIS;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	.	http://www.proteinatlas.org/ENSG00000242616-GNG10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	smooth muscle: 29.6	.	.	BS1, PM1
H	9	115060199	rs747780993	G	A	166	PASS	PTBP3	.	splicing	NM_001163788,NM_001163790,NM_001244896,NM_001244897,NM_001244898,NM_005156	NM_001163788:exon2:UTR5;NM_001163790:exon3:c.43-3C>T;NM_001244896:exon2:UTR5;NM_001244897:exon2:UTR5;NM_001244898:exon2:c.61-3C>T;NM_005156:exon3:c.43-3C>T	.	.	ENST00000450374.1,ENST00000458258.5,ENST00000210227.4,ENSG00000119314.15,ENST00000374255.6,ENST00000334318.10,ENST00000343327.6,ENST00000487997.1,ENST00000374257.5	.	9q32	.	.	.	.	.	rs747780993	.	.	.	.	.	.	0.00004043	272056	0.00054502	18348	0.00077720	.	0.0186,0.092	-0.9679	.	.	.	.	.	.	.	.	.	1.422	1.502	1.792328,14.94	3.65	.	VDB=0.0144303;SGB=-0.670168;RPB=0.513882;MQB=0.000399184;MQSB=0.699238;BQB=0.494431;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=27;DP4=9,3,6,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:22:199,0,253:12,10	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000119314-PTBP3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 38.3	.	.	PM2
H	9	115973814	rs151187548	A	G	158	PASS	FKBP15	FK506-binding protein 15	exonic	NM_015258	.	missense SNV	FKBP15:NM_015258:exon2:c.T112C:p.F38L	ENST00000462889.1,ENST00000446284.5,ENST00000414250.1,ENST00000238256.7,ENSG00000119321.8	.	9q32	.	.	.	.	.	rs151187548	.	.	0.00664452	0.006	0.00119808	.	0.00027513	268960	0.00395004	18734	0.00485814	0.00088028	.	-0.2717	.	0.08,T	0.779,P	0.99,D	0.969646,D	.	1.735,L	1.55,T	13.4821	2.071	8.141	3.617796,23.2	5.45	0.00972850022177	VDB=0.410943;SGB=-0.636426;RPB=0.777113;MQB=0.0102252;MQSB=0.953497;BQB=0.470358;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=18;DP4=4,2,5,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:13:191,0,160:6,7	A	G	0	1	FK506-binding protein 15, 617398	.	.	.	9734811|16756961|19121306	GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PROTEIN_FOLDING;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_DEPHOSPHORYLATION;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ENDOCYTOSIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS	GO_ACTIN_CYTOSKELETON;GO_VACUOLE;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_AXON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_NEURON_PROJECTION;GO_SUPRAMOLECULAR_FIBER;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_ACTIN_FILAMENT;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING	.	.	.	.	Most normal cells showed strong cytoplasm staining which in a few cases was combined with nucleolar staining. The liver was weakly stained.	http://www.proteinatlas.org/ENSG00000119321-FKBP15/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	appendix: 21.9	nucleoli; cytoplasm	.	.
L	9	116854854	rs140779223	G	A	222	PASS	KIF12	Kinesin family member 12	exonic	NM_138424	.	synonymous SNV	KIF12:NM_138424:exon14:c.C1251T:p.C417C	ENST00000640553.1,ENST00000468460.2,ENST00000639832.1,ENST00000640217.1,ENST00000498016.1,ENST00000374118.8,ENSG00000136883.13	.	9q32	.	.	.	.	.	rs140779223	.	.	0.038206	0.0367	0.00798722	0.0011	0.00278812	263260	0.02337421	18268	0.02157854	0.01861702	.	-0.4267	.	.	.	.	.	.	.	.	.	-0.001	0.367	.	.	.	VDB=2.79744e-07;SGB=-0.693147;RPB=0.441826;MQB=2.42375e-09;MQSB=0.920368;BQB=0.808725;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=117;DP4=15,27,24,22;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:88:255,0,255:42,46	G	A	0	1	Kinesin family member 12, 611278	.	.	.	9275178	GO_MICROTUBULE_BASED_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MICROTUBULE_BASED_MOVEMENT	GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Ubiquitous cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000136883-KIF12/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 18.9	.	.	BP7
L	9	117389265	rs142772339	T	C	222	PASS	TMEM268	.	exonic	NM_001330760,NM_153045	.	synonymous SNV	TMEM268:NM_001330760:exon4:c.T306C:p.P102P,TMEM268:NM_153045:exon4:c.T303C:p.P101P	ENST00000288502.8,ENST00000471206.1,ENSG00000157693.14,ENST00000374049.4	.	9q32	.	.	.	.	.	rs142772339	.	.	0.0199336	0.0198	0.00399361	.	0.00142573	277052	0.02072951	18862	0.02176448	0.01584507	.	-0.6613	.	.	.	.	.	.	.	.	.	-1.308	-4.825	.	.	.	VDB=0.507248;SGB=-0.693147;RPB=0.846107;MQB=2.48786e-14;MQSB=0.960883;BQB=0.997564;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=124;DP4=28,12,39,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:52:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:93:255,0,255:40,53	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7
H	9	117400861	rs139657527	T	C	222	PASS	TMEM268	.	exonic	NM_001330760,NM_153045	.	missense SNV	TMEM268:NM_001330760:exon8:c.T707C:p.V236A,TMEM268:NM_153045:exon8:c.T704C:p.V235A	ENST00000288502.8,ENSG00000157693.14,ENST00000374049.4	.	9q32	.	.	.	.	.	rs139657527	.	.	0.013289	0.0099	0.00199681	.	0.00051974	265516	0.00780014	17692	0.00446949	0.00528169	.	-0.2357	.	0.003,D	0.986,D	0.996,D	0.97568,D	0.000054,D	2.515,M	.	12.9412	2.299	2.427	5.496567,26.2	6.02	0.0102825420804	VDB=0.797739;SGB=-0.693145;RPB=0.948913;MQB=5.76488e-14;MQSB=0.794541;BQB=0.914112;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=117;DP4=38,13,32,8;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:91:255,0,255:51,40	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	9	124525862	rs80008292	C	T	222	PASS	DAB2IP	DAB2-interacting protein	exonic	NM_032552,NM_138709	.	synonymous SNV	DAB2IP:NM_138709:exon5:c.C877T:p.L293L,DAB2IP:NM_032552:exon7:c.C1165T:p.L389L	ENSG00000136848.16,ENST00000459906.1,ENST00000259371.6,ENST00000373782.7,ENST00000408936.7,ENST00000309989.1	.	9q33.2	.	.	Score=850;Name=V$GRE_C	.	.	rs80008292	.	.	0.038206	0.0327	0.00658946	0.0003	0.00304724	276972	0.04156505	18862	0.02739992	0.02910053	.	0.3201	.	.	.	.	.	.	.	.	.	1.159	1.310	1.742105,14.65	2.99	.	VDB=0.0356069;SGB=-0.693146;RPB=0.277929;MQB=4.72379e-12;MQSB=0.907584;BQB=0.546496;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=109;DP4=33,7,32,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:82:255,0,255:40,42	C	T	0	1	DAB2-interacting protein, 609205	.	.	.	11944990|12446720|15817459|20154697|11214970|11812785|15386433|15310755|12813029	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_BINDING;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CELLULAR_RESPONSE_TO_INTERLEUKIN_1;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_REGULATION_OF_TOLL_LIKE_RECEPTOR_4_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_LAYER_FORMATION_IN_CEREBRAL_CORTEX;GO_PROTEIN_CATABOLIC_PROCESS;GO_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ACTIVATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_NUCLEASE_ACTIVITY;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_FOREBRAIN_CELL_MIGRATION;GO_CELL_MOTILITY;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_BACTERIUM;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_GLIOGENESIS;GO_TELENCEPHALON_GLIAL_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_SYNAPSE_MATURATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_JNK_CASCADE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_MIGRATION;GO_RESPONSE_TO_INTERLEUKIN_1;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEUROGENESIS;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_GLIAL_CELL_MIGRATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_JNK_CASCADE;GO_IMMUNE_RESPONSE;GO_TUBE_FORMATION;GO_I_KAPPAB_PHOSPHORYLATION;GO_CELL_CYCLE;GO_REGULATION_OF_CATENIN_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_ACTIVATION_OF_MAPKKK_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_MIGRATION;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NUCLEASE_ACTIVITY;GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_CEREBRAL_CORTEX_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_P38MAPK_CASCADE;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CEREBRAL_CORTEX_RADIALLY_ORIENTED_CELL_MIGRATION;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_BINDING;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_SYNAPSE_MATURATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_PROTEIN_TARGETING;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_INTRACELLULAR_VESICLE;GO_NEURON_PROJECTION;GO_SIDE_OF_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_THE_CYTOPLASMIC_SIDE_OF_THE_PLASMA_MEMBRANE;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_AXON_PART;GO_NEURONAL_CELL_BODY_MEMBRANE;GO_DENDRITE	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_KINASE_BINDING;GO_PROTEIN_PHOSPHATASE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_SH3_DOMAIN_BINDING;GO_PHOSPHATASE_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_BINDING_BRIDGING;GO_14_3_3_PROTEIN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_DEATH_RECEPTOR_BINDING;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_3_KINASE_BINDING;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_KINASE_KINASE_BINDING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_RECEPTOR_BINDING;GO_PROTEIN_PHOSPHATASE_2A_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_CYTOKINE_RECEPTOR_BINDING;GO_TUMOR_NECROSIS_FACTOR_RECEPTOR_SUPERFAMILY_BINDING;GO_PHOSPHATIDYLINOSITOL_4_PHOSPHATE_BINDING	.	PID_RAS_PATHWAY	.	.	Exocrine pancreas displayed strong cytoplasmic positivity. Moderate staining was observed in neuronal cells, lung macrophages and prostate. Other normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000136848-DAB2IP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 22.0	.	.	BS1
L	9	124535093	rs74792331	C	G	222	PASS	DAB2IP	DAB2-interacting protein	exonic	NM_032552,NM_138709	.	synonymous SNV	DAB2IP:NM_138709:exon10:c.C1914G:p.G638G,DAB2IP:NM_032552:exon12:c.C2202G:p.G734G	ENSG00000136848.16,ENST00000259371.6,ENST00000373782.7,ENST00000408936.7,ENST00000309989.1	CpG: 45	9q33.2	.	.	Score=793;Name=V$OLF1_01	.	.	rs74792331	.	.	0.00498339	0.004	0.000798722	.	0.00056667	262940	0.00795901	18344	0.00388651	0.00440917	.	-0.0894	.	.	.	.	.	.	.	.	.	1.070	1.809	.	3.77	.	VDB=0.364695;SGB=-0.693147;RPB=0.523955;MQB=9.96441e-22;MQSB=0.20544;BQB=0.918855;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=193;DP4=46,22,46,37;MinDP=90;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:90:.:.	0/0:100:.:.	0/1:151:255,0,255:68,83	C	G	0	1	DAB2-interacting protein, 609205	.	.	.	11944990|12446720|15817459|20154697|11214970|11812785|15386433|15310755|12813029	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_BINDING;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CELLULAR_RESPONSE_TO_INTERLEUKIN_1;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_REGULATION_OF_TOLL_LIKE_RECEPTOR_4_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_LAYER_FORMATION_IN_CEREBRAL_CORTEX;GO_PROTEIN_CATABOLIC_PROCESS;GO_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ACTIVATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_NUCLEASE_ACTIVITY;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_FOREBRAIN_CELL_MIGRATION;GO_CELL_MOTILITY;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_BACTERIUM;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_GLIOGENESIS;GO_TELENCEPHALON_GLIAL_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_SYNAPSE_MATURATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_JNK_CASCADE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_MIGRATION;GO_RESPONSE_TO_INTERLEUKIN_1;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEUROGENESIS;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_GLIAL_CELL_MIGRATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_JNK_CASCADE;GO_IMMUNE_RESPONSE;GO_TUBE_FORMATION;GO_I_KAPPAB_PHOSPHORYLATION;GO_CELL_CYCLE;GO_REGULATION_OF_CATENIN_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_ACTIVATION_OF_MAPKKK_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_MIGRATION;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_NUCLEASE_ACTIVITY;GO_REGULATION_OF_ENDOPLASMIC_RETICULUM_UNFOLDED_PROTEIN_RESPONSE;GO_CEREBRAL_CORTEX_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_P38MAPK_CASCADE;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CEREBRAL_CORTEX_RADIALLY_ORIENTED_CELL_MIGRATION;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_BINDING;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_JUN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_SYNAPSE_MATURATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_PROTEIN_TARGETING;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_INTRACELLULAR_VESICLE;GO_NEURON_PROJECTION;GO_SIDE_OF_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_THE_CYTOPLASMIC_SIDE_OF_THE_PLASMA_MEMBRANE;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_AXON_PART;GO_NEURONAL_CELL_BODY_MEMBRANE;GO_DENDRITE	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_KINASE_BINDING;GO_PROTEIN_PHOSPHATASE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_SH3_DOMAIN_BINDING;GO_PHOSPHATASE_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_BINDING_BRIDGING;GO_14_3_3_PROTEIN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_DEATH_RECEPTOR_BINDING;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_3_KINASE_BINDING;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_KINASE_KINASE_BINDING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_RECEPTOR_BINDING;GO_PROTEIN_PHOSPHATASE_2A_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_CYTOKINE_RECEPTOR_BINDING;GO_TUMOR_NECROSIS_FACTOR_RECEPTOR_SUPERFAMILY_BINDING;GO_PHOSPHATIDYLINOSITOL_4_PHOSPHATE_BINDING	.	PID_RAS_PATHWAY	.	.	Exocrine pancreas displayed strong cytoplasmic positivity. Moderate staining was observed in neuronal cells, lung macrophages and prostate. Other normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000136848-DAB2IP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 22.0	.	.	.
L	9	124794020	rs61740840	G	T	98	PASS	TTLL11	.	exonic	NM_001139442,NM_194252	.	missense SNV	TTLL11:NM_001139442:exon3:c.C945A:p.F315L,TTLL11:NM_194252:exon3:c.C945A:p.F315L	ENST00000373776.4,ENSG00000175764.14,ENST00000321582.9,ENST00000373778.5,ENST00000487468.5,ENST00000474723.5	.	9q33.2	.	.	.	.	.	rs61740840	.	.	0.0149502	0.0169	0.0305511	0.0064	0.03046259	277094	0.02083333	18864	0.02234745	0.02552817	.	0.8339	.	0.214,T	0.03,B	0.01,B	1,D	0.000353,D	0.44,N	3.69,T	8.0567	1.430	1.952	3.269817,22.8	4.6	.	VDB=0.648709;SGB=-0.651104;RPB=0.576102;MQB=0.013253;MQSB=1;BQB=0.998622;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=16;DP4=7,1,8,0;MinDP=9;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:9:.:.	0/0:12:.:.	0/0:11:.:.	0/1:16:131,0,157:8,8	G	T	0	1	.	.	.	.	.	GO_MICROTUBULE_BASED_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_CELL_PROJECTION;GO_CILIUM	GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Normal tissues showed weak to moderate cytoplasmic staining. Small intestine, gall bladder and renal tubules displayed strong positivity. Parathyroid, cells in glomeruli, epidermal cells and most lymphoid cells were negative.	http://www.proteinatlas.org/ENSG00000175764-TTLL11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 9.6	.	.	BS1
H	9	125782737	rs75992542	A	G	222	PASS	RABGAP1	RAB GTPase-activating protein 1	exonic	NM_012197	.	missense SNV	RABGAP1:NM_012197:exon13:c.A1793G:p.K598R	ENSG00000011454.16,ENST00000373647.8,ENST00000456584.5	.	9q33.2	.	.	.	.	.	rs75992542	.	.	0.0398671	0.0337	0.00698882	.	0.00298472	267362	0.03677681	18218	0.03828216	0.05193662	0.9936,0.944	-1.1437	Rab-GTPase-TBC domain	0.008,D	0.099,B	0.274,B	1,D	0.000000,D	1.72,L	-0.5,T	15.8951	2.147	8.933	5.973236,27.7	5.66	.	VDB=0.658373;SGB=-0.691153;RPB=0.60647;MQB=3.22767e-06;MQSB=0.627059;BQB=0.879351;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=46;DP4=5,16,9,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:39:255,0,255:21,18	A	G	0	1	RAB GTPase-activating protein 1, 615882	.	.	.	10202141	GO_REGULATION_OF_VESICLE_FUSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELL_CYCLE;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_TUBULIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000011454-RABGAP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 32.4	cytoplasm	.	BS1, PVS1, PM1, PP3
L	9	127617963	rs117281726	G	A	222	PASS	WDR38	.	exonic	NM_001045476,NM_001276374,NM_001276375	.	missense SNV	WDR38:NM_001045476:exon3:c.G241A:p.A81T,WDR38:NM_001276374:exon3:c.G241A:p.A81T,WDR38:NM_001276375:exon3:c.G208A:p.A70T	ENST00000373574.1,ENST00000613760.4,ENST00000618744.4,ENSG00000136918.7	.	9q33.3	.	.	.	.	.	rs117281726	.	.	0.0265781	0.0308	0.0239617	0.0007	0.01825562	276408	0.02342342	18870	0.01884959	0.01672535	.	0.2400	WD40-repeat-containing domain;WD40/YVTN repeat-like-containing domain	0.134,T	0.001,B	0.001,B	0.967219,N	0.151009,N	1.855,L	-0.11,T	3.6866	-0.072	-0.284	0.919111,10.19	.	.	VDB=0.63014;SGB=-0.693147;RPB=0.185041;MQB=1.35483e-31;MQSB=0.976305;BQB=0.893879;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=573;DP4=178,24,199,29;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/1:248:255,0,255:113,135	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:182:255,0,255:89,93	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in fallopian tube.	http://www.proteinatlas.org/ENSG00000136918-WDR38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 4.3	.	.	PM1
L	9	127618162	rs118113086	G	A	222	PASS	WDR38	.	exonic	NM_001045476,NM_001276374,NM_001276375,NM_001276376	.	synonymous SNV	WDR38:NM_001276376:exon3:c.G183A:p.T61T,WDR38:NM_001045476:exon4:c.G330A:p.T110T,WDR38:NM_001276374:exon4:c.G330A:p.T110T,WDR38:NM_001276375:exon4:c.G297A:p.T99T	ENST00000373574.1,ENST00000613760.4,ENST00000618744.4,ENSG00000136918.7	.	9q33.3	.	.	Score=907;Name=V$CEBP_01	.	.	rs118113086	.	.	0.0265781	0.0308	0.023762	0.0008	0.01821383	277152	0.02358491	18868	0.01884959	0.01675485	.	-1.9154	.	.	.	.	.	.	.	.	.	-3.271	-4.765	2.074269,16.69	.	.	VDB=0.00505471;SGB=-0.693147;RPB=0.10192;MQB=6.9608e-27;MQSB=0.741681;BQB=0.980777;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=559;DP4=109,124,93,118;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/1:213:255,0,255:119,94	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:231:255,0,255:114,117	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in fallopian tube.	http://www.proteinatlas.org/ENSG00000136918-WDR38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 4.3	.	.	BP7
L	9	127618791	rs117762897	G	A	222	PASS	WDR38	.	exonic	NM_001045476,NM_001276374,NM_001276375,NM_001276376	.	missense SNV	WDR38:NM_001276376:exon5:c.G383A:p.R128Q,WDR38:NM_001045476:exon6:c.G530A:p.R177Q,WDR38:NM_001276374:exon6:c.G530A:p.R177Q,WDR38:NM_001276375:exon6:c.G497A:p.R166Q	ENST00000373574.1,ENST00000613760.4,ENST00000618744.4,ENSG00000136918.7	.	9q33.3	.	.	.	.	.	rs117762897	.	.	0.0299003	0.0327	0.024361	0.0006	0.01821188	273942	0.02349423	18728	0.01904392	0.01675485	.	-0.2774	WD40-repeat-containing domain;WD40/YVTN repeat-like-containing domain	0.441,T	0.155,B	0.8,P	0.64869,N	0.002391,N	2.01,M	-1.69,D	8.6688	2.428	3.985	3.416216,23.0	4.68	.	VDB=0.168109;SGB=-0.693147;RPB=0.918304;MQB=4.75917e-18;MQSB=0.850304;BQB=0.665538;MQ0F=0;ICB=1;HOB=0.5;MQ=33;DP=377;DP4=104,35,106,37;MinDP=73;AN=18;AC=2	GT:DP:PL:AD	0/0:73:.:.	0/0:116:.:.	0/1:146:255,0,255:66,80	0/0:116:.:.	0/0:74:.:.	0/0:84:.:.	0/0:100:.:.	0/0:84:.:.	0/1:136:255,0,255:73,63	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in fallopian tube.	http://www.proteinatlas.org/ENSG00000136918-WDR38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 4.3	.	.	PM1
L	9	127618856	rs117033551	T	G	222	PASS	WDR38	.	exonic	NM_001045476,NM_001276374,NM_001276375,NM_001276376	.	missense SNV	WDR38:NM_001276376:exon5:c.T448G:p.C150G,WDR38:NM_001045476:exon6:c.T595G:p.C199G,WDR38:NM_001276374:exon6:c.T595G:p.C199G,WDR38:NM_001276375:exon6:c.T562G:p.C188G	ENST00000373574.1,ENST00000613760.4,ENST00000618744.4,ENSG00000136918.7	.	9q33.3	.	.	.	.	.	rs117033551	.	.	0.0282392	0.0317	0.0241613	0.0006	0.01812647	276612	0.02423375	18858	0.01884959	0.01675485	.	-0.3976	WD40-repeat-containing domain;WD40/YVTN repeat-like-containing domain	0.002,D	0.759,P	0.954,P	0.75493,D	0.003053,N	0.635,N	0.18,T	8.2637	0.240	2.027	3.479485,23.1	2.18	.	VDB=0.676957;SGB=-0.693147;RPB=0.999996;MQB=2.71924e-15;MQSB=0.0168152;BQB=0.994817;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=451;DP4=109,57,119,58;MinDP=77;AN=18;AC=2	GT:DP:PL:AD	0/0:77:.:.	0/0:105:.:.	0/1:175:255,0,255:79,96	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:103:.:.	0/0:103:.:.	0/1:168:255,0,255:87,81	T	G	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in fallopian tube.	http://www.proteinatlas.org/ENSG00000136918-WDR38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 4.3	.	.	PM1, PP3
L	9	127619088	rs118056966	T	C	222	PASS	WDR38	.	exonic	NM_001045476,NM_001276374,NM_001276375,NM_001276376	.	synonymous SNV	WDR38:NM_001276376:exon6:c.T549C:p.H183H,WDR38:NM_001045476:exon7:c.T696C:p.H232H,WDR38:NM_001276374:exon7:c.T696C:p.H232H,WDR38:NM_001276375:exon7:c.T663C:p.H221H	ENST00000373574.1,ENST00000613760.4,ENST00000618744.4,ENSG00000136918.7	.	9q33.3	.	.	.	.	.	rs118056966	.	.	0.0265781	0.0327	0.024361	0.0007	0.01820117	277180	0.02363791	18868	0.01884959	0.01675485	.	-0.0336	.	.	.	.	.	.	.	.	.	-0.524	-1.025	.	.	.	VDB=0.00693937;SGB=-0.693147;RPB=0.980784;MQB=5.05998e-30;MQSB=0.625028;BQB=0.810557;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=518;DP4=110,61,125,76;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:105:.:.	0/1:201:255,0,255:93,108	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:103:.:.	0/1:171:255,0,255:78,93	T	C	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in fallopian tube.	http://www.proteinatlas.org/ENSG00000136918-WDR38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 4.3	.	.	BP7
H	9	129453110	rs186285462	C	T	222	PASS	LMX1B	LIM homeo box transcription factor 1, beta	splicing	NM_001174146,NM_001174147,NM_002316	NM_001174146:exon3:c.327-5C>T;NM_001174147:exon3:c.327-5C>T;NM_002316:exon3:c.327-5C>T	.	.	ENSG00000136944.17,ENST00000373474.8,ENST00000355497.9,ENST00000526117.5,ENST00000561065.1	CpG: 25	9q33.3	.	.	.	.	.	rs186285462	.	.	0.00166113	0.001	0.000599042	.	0.00025657	261134	0.00093140	18252	0.00019433	0.00176367	0,0	0.1079	.	.	.	.	.	.	.	.	.	-0.793	-0.331	.	.	.	VDB=0.462842;SGB=-0.693147;RPB=0.937065;MQB=3.4888e-09;MQSB=0.981868;BQB=0.999432;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=134;DP4=54,3,38,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:102:255,0,255:57,45	C	T	0	1	Nail-patella syndrome, 161200 (3), Autosomal dominant	.	.	.	18414507|15928687|9590288|8136842|10571942|12897786|10767331|9590287|15498463|12039968|10854116|9441763|9323126|10943837|9323941|15785774|9837817|11175791|8088777|7501017|9618165	GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_EMBRYO_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DOPAMINERGIC_NEURON_DIFFERENTIATION;GO_NEURON_DIFFERENTIATION;GO_PATTERN_SPECIFICATION_PROCESS;GO_REGIONALIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000136944-LMX1B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 1.7	.	.	BS2
L	9	129851308	rs555497244	G	A	222	PASS	ANGPTL2	Angiopoietin-like 2	exonic	NM_012098	.	synonymous SNV	ANGPTL2:NM_012098:exon5:c.C1392T:p.D464D	ENST00000373434.5,ENSG00000136828.18,ENST00000394022.7,ENST00000373425.7,ENST00000373436.5,ENST00000424082.6,ENSG00000136859.9,ENST00000373417.1,ENST00000259351.9	.	9q33.3	.	.	.	.	.	rs555497244	.	.	0.00166113	0.002	0.000399361	.	0.00011905	277200	0.00158983	18870	0.00097163	.	.	.	.	.	.	.	.	.	.	.	.	-2.638	-0.199	.	.	.	VDB=0.010668;SGB=-0.693147;RPB=0.992521;MQB=1.65207e-24;MQSB=0.626987;BQB=0.421691;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=217;DP4=48,35,50,23;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:156:255,0,255:83,73	G	A	0	1	Angiopoietin-like 2, 605001	.	.	.	10473614|16429146|22660330	.	GO_EXTRACELLULAR_SPACE	GO_RECEPTOR_BINDING	.	.	.	.	Distinct expression in plasma.	http://www.proteinatlas.org/ENSG00000136859-ANGPTL2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adipose tissue: 75.0	.	.	BP7, PM2
M	9	130269174	rs187699931	C	T	222	PASS	FAM129B	Family with sequence similarity 129, member B	exonic	NM_001035534,NM_022833	.	missense SNV	FAM129B:NM_001035534:exon14:c.G2152A:p.A718T,FAM129B:NM_022833:exon14:c.G2191A:p.A731T	ENST00000478917.1,ENST00000373312.3,ENST00000373314.7,ENSG00000136830.11	.	9q33.3	.	.	.	.	.	rs187699931	.	.	0.0166113	0.0119	0.00319489	7.7e-05	0.00084525	272108	0.00745553	18778	0.00582977	0.00177936	.	.	.	0.432,T	0.001,B	0.006,B	1,N	0.648301,N	1.1,L	1.94,T	4.7537	0.368	1.871	.	.	.	VDB=0.80552;SGB=-0.686358;RPB=0.60793;MQB=0.00726032;MQSB=0.429893;BQB=0.483516;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=92;DP4=25,8,19,12;MinDP=24;AN=18;AC=2	GT:DP:PL:AD	0/0:24:.:.	0/0:32:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/1:30:255,0,255:16,14	0/0:30:.:.	0/1:34:255,0,255:17,17	C	T	0	2	Family with sequence similarity 129, member B, 614045	.	.	.	21148485	GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CELL_DEATH	GO_ACTIN_CYTOSKELETON;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_ANCHORING_JUNCTION;GO_NUCLEOLUS	.	.	.	.	.	Cytoplasmic and membranous expression in most epithelial cells.	http://www.proteinatlas.org/ENSG00000136830-FAM129B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 266.9	nucleus; plasma membrane; cytoplasm	.	BP4
H	9	131768042	rs188939611	A	G	222	PASS	NUP188	Nucleoporin, 188kD	exonic	NM_015354	.	missense SNV	NUP188:NM_015354:exon41:c.A4856G:p.N1619S	ENST00000372577.2,ENSG00000095319.14	.	9q34.11	.	.	.	.	.	rs188939611	.	.	0.00166113	0.001	0.000199681	.	0.00009453	275036	0.00053112	18828	.	.	.	-0.0677	.	0.58,T	0.002,B	0.001,B	0.999259,D	0.000000,D	-0.255,N	1.6,T	13.2513	2.056	6.575	1.300945,12.27	5.44	0.00559624053349	VDB=9.87134e-05;SGB=-0.693132;RPB=0.98568;MQB=5.74083e-08;MQSB=0.190314;BQB=0.66748;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=63;DP4=10,7,9,25;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:51:255,0,255:17,34	A	G	0	1	Nucleoporin, 188kD, 615587	.	.	.	21282601|11029043|8724849	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_MEMBRANE_DISASSEMBLY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_IMPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_NUCLEAR_TRANSPORT;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_PROTEIN_SUMOYLATION;GO_TRNA_TRANSPORT;GO_VIRAL_LIFE_CYCLE;GO_MULTI_ORGANISM_LOCALIZATION;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_GENE_SILENCING;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_NUCLEAR_IMPORT;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MULTI_ORGANISM_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_NUCLEAR_ENVELOPE_ORGANIZATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_MEMBRANE_ORGANIZATION;GO_NUCLEUS_ORGANIZATION;GO_NUCLEAR_EXPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_RNA_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_GENE_SILENCING_BY_RNA;GO_CELL_CYCLE_PROCESS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_NUCLEAR_ENVELOPE;GO_ENVELOPE;GO_NUCLEAR_PORE	GO_STRUCTURAL_CONSTITUENT_OF_NUCLEAR_PORE;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_NON_CODING_RNA;REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_TRANSPORT_OF_MATURE_TRANSCRIPT_TO_CYTOPLASM;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_MRNA_PROCESSING;REACTOME_TRANSPORT_OF_MATURE_MRNA_DERIVED_FROM_AN_INTRONLESS_TRANSCRIPT;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_GLUCOSE_TRANSPORT;REACTOME_METABOLISM_OF_RNA;REACTOME_INTERFERON_SIGNALING;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_NEP_NS2_INTERACTS_WITH_THE_CELLULAR_EXPORT_MACHINERY;REACTOME_HIV_INFECTION;REACTOME_TRANSPORT_OF_RIBONUCLEOPROTEINS_INTO_THE_HOST_NUCLEUS;REACTOME_HIV_LIFE_CYCLE;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS;REACTOME_REGULATION_OF_GLUCOKINASE_BY_GLUCOKINASE_REGULATORY_PROTEIN;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Normal tissues displayed weak to moderate nuclear positivity. Cytoplasmic staining was observed in placental trophoblastic cells and cardiac myocytes. Thyroid, uterine glands and placental trophoblasts showed strong staining. The liver, pancreatic islets, prostate, lymphoid and soft tissues were negative.	http://www.proteinatlas.org/ENSG00000095319-NUP188/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 59.2	nucleus	.	PM2
H	9	133305066	rs762018717	T	G	222	PASS	HMCN2	.	exonic	NM_001291815	.	unknown	UNKNOWN	ENSG00000148357.12,ENST00000428715.1	.	9q34.11	.	.	.	.	.	rs762018717	.	.	.	.	.	.	0.00000800	125006	0.00010233	9772	0.00022331	0.00242718	.	0.0652	EGF-like calcium-binding domain;EGF-like, conserved site;Epidermal growth factor-like domain	0.0,D	.	.	.	.	3.9,H	-5.9,D	13.5076	1.861	5.815	5.229889,25.6	4.96	.	VDB=0.158735;SGB=-0.693145;RPB=0.247831;MQB=3.64006e-07;MQSB=0.620332;BQB=0.857125;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=103;DP4=14,30,12,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:58:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:55:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:44,40	T	G	0	1	.	.	.	.	.	.	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_CALCIUM_ION_BINDING	.	.	.	.	Respiratory epithelia, gastrointestinal tract, gall bladder, exocrine pancreas, thyroid and adrenal gland, renal tubules, urothelial cells, fallopian tube, glandular cells in breast, Leydig cells and striated muscle displayed moderate to strong cytoplasmic positivity. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000148357-HMCN2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	small intestine: 6.6	vesicles	.	PM1, PM2, PP3
L	9	139960816	rs201774279	C	T	174	PASS	SAPCD2	.	exonic	NM_178448	.	synonymous SNV	SAPCD2:NM_178448:exon2:c.G582A:p.A194A	ENST00000409687.4,ENSG00000186193.8	.	9q34.3	.	.	Score=828;Name=V$CHOP_01	.	.	rs201774279	.	.	0.0116279	0.0079	0.00159744	.	0.00051130	248388	0.00624651	17930	0.00466744	0.00442478	.	-1.1915	.	.	.	.	.	.	.	.	.	0.787	0.169	1.749300,14.69	.	.	VDB=0.427178;SGB=-0.692067;RPB=0.943731;MQB=3.60691e-06;MQSB=0.215077;BQB=0.994241;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=27,7,19,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:54:207,0,255:34,20	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in several tissues with additional occasional nuclear expression.	http://www.proteinatlas.org/ENSG00000186193-SAPCD2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 5.0	cytoplasm; nucleus; nucleoli	.	BP7
L	10	5541294	rs116143222	C	T	222	PASS	CALML5	.	exonic	NM_017422	.	synonymous SNV	CALML5:NM_017422:exon1:c.G108A:p.A36A	ENSG00000178372.7,ENST00000380332.4	CpG: 65	10p15.1	.	.	.	.	.	rs116143222	.	.	0.0116279	0.0099	0.00219649	0.0002	0.00122675	277156	0.01579226	18870	0.01049359	0.00880282	.	.	.	.	.	.	.	.	.	.	.	-0.068	-0.103	1.315585,12.35	.	.	VDB=0.441101;SGB=-0.693147;RPB=0.997058;MQB=6.43358e-31;MQSB=0.534064;BQB=0.999038;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=297;DP4=86,35,60,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:102:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/1:216:255,0,255:121,95	C	T	0	1	.	.	.	.	.	GO_EPITHELIUM_DEVELOPMENT;GO_EPIDERMIS_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	.	GO_CALCIUM_ION_BINDING	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_ALZHEIMERS_DISEASE;KEGG_GLIOMA	.	.	.	Cytoplasmic and nuclear expression in salivary gland, glandular cells in breast and squamous epithelium.	http://www.proteinatlas.org/ENSG00000178372-CALML5/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	esophagus: 10.7	plasma membrane; cytoplasm	.	BP7
H	10	11805487	rs147137710	G	A	222	PASS	ECHDC3	.	exonic	NM_024693	.	missense SNV	ECHDC3:NM_024693:exon5:c.G856A:p.G286S	ENST00000496136.5,ENSG00000134463.14,ENST00000379215.8	.	10p14	.	.	.	.	.	rs147137710	.	.	0.0215947	0.0228	0.00459265	0.0002	0.00190163	250838	0.02453817	17972	0.02059852	0.02112676	.	.	ClpP/crotonase-like domain	0.0,D	1.0,D	1.0,D	1,D	0.000000,D	4.105,H	1.61,T	18.8741	2.706	9.333	6.165339,28.5	5.73	.	VDB=0.418702;SGB=-0.693147;RPB=0.996281;MQB=5.34679e-14;MQSB=0.943417;BQB=0.826108;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=123;DP4=23,24,26,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:52:.:.	0/1:100:255,0,255:47,53	G	A	0	1	.	.	.	.	.	.	GO_MITOCHONDRION	.	.	.	.	.	Cytoplasmic expression with a granular pattern in most tissues.	http://www.proteinatlas.org/ENSG00000134463-ECHDC3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 57.7	nucleus; nucleoli; mitochondria; vesicles	.	PM1, PP3
H	10	13852915	rs150076465	G	A	222	PASS	FRMD4A	FERM domain-containing protein 4A	splicing	NM_001318336,NM_001318337,NM_018027	NM_001318336:exon3:c.160-7C>T;NM_001318337:exon3:c.211-7C>T;NM_018027:exon4:c.112-7C>T	.	.	ENST00000640906.1,ENST00000342409.3,ENST00000357447.6,ENST00000264546.10,ENSG00000151474.21	.	10p13	.	.	.	.	.	rs150076465	.	.	0.0215947	0.0169	0.00339457	.	0.00121553	271486	0.01630317	18524	0.02623397	0.02552817	0,0.002	0.0991	.	.	.	.	.	.	.	.	.	-0.209	1.850	.	.	.	VDB=0.214264;SGB=-0.686358;RPB=0.782784;MQB=6.14421e-06;MQSB=0.846848;BQB=0.586956;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=45;DP4=12,8,10,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:26:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:34:255,0,255:20,14	G	A	0	1	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive	.	.	.	25388005|22564525|20080746|10718198	GO_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY	GO_APICAL_JUNCTION_COMPLEX;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_CELL_CELL_JUNCTION	GO_BINDING_BRIDGING	.	.	.	.	A majority of normal tissues showed moderate to strong nuclear positivity. Additional cytoplasmic staining was observed in a few cases. Placenta, breast, skin, neuronal cells, reaction center cells and gastrointestinal glands were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000151474-FRMD4A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 19.4	golgi apparatus; nucleus	.	.
L	10	16970306	rs377588767	C	T	222	PASS	CUBN	Cubilin (intrinsic factor-cobalamin receptor)	splicing	NM_001081	NM_001081:exon41:c.6125-4G>A	.	.	ENST00000377833.8,ENSG00000107611.14	.	10p13	.	.	.	Score=0.918102;Name=chr10:45622567	.	rs377588767	.	.	.	.	.	7.7e-05	0.00002897	276176	0.00005307	18844	.	.	0,0	-0.9056	.	.	.	.	.	.	.	.	.	-0.614	-1.855	.	.	.	VDB=0.209904;SGB=-0.692976;RPB=0.946483;MQB=1.58938e-06;MQSB=0.733476;BQB=0.899581;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=72;DP4=16,5,16,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:47:255,0,255:21,26	C	T	0	1	Megaloblastic anemia-1, Finnish type, 261100 (3), Autosomal recessive	.	.	.	10080186|7573042|20237569|9334227|8510165|1848001|14576052|10371504|9572993|10887099|9478979|11717447|9153271|21208123|10552972	GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_COBALAMIN_METABOLIC_PROCESS;GO_VITAMIN_D_METABOLIC_PROCESS;GO_FAT_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_WATER_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_TETRAPYRROLE_METABOLIC_PROCESS;GO_VITAMIN_TRANSPORT;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_LIPOPROTEIN_LOCALIZATION;GO_ALCOHOL_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_STEROL_METABOLIC_PROCESS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS;GO_VITAMIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_LYSOSOMAL_LUMEN;GO_COATED_PIT;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_BRUSH_BORDER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_INTRACELLULAR_VESICLE;GO_VACUOLAR_LUMEN;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_ENDOSOMAL_PART;GO_PLASMA_MEMBRANE_REGION;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_LYTIC_VACUOLE_MEMBRANE;GO_GOLGI_APPARATUS;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_BRUSH_BORDER_MEMBRANE;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_VITAMIN_BINDING;GO_TETRAPYRROLE_BINDING;GO_RECEPTOR_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	.	http://www.proteinatlas.org/ENSG00000107611-CUBN/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	thyroid gland: 2.2	.	.	PM2
H	10	21845795	rs193253280	A	T	222	PASS	MLLT10	.	exonic	NM_001195628,NM_001195630,NM_001324296	.	missense SNV	MLLT10:NM_001195628:exon4:c.A464T:p.D155V,MLLT10:NM_001195630:exon4:c.A464T:p.D155V,MLLT10:NM_001324296:exon4:c.A464T:p.D155V	ENST00000462999.5,ENST00000377091.6,ENST00000430455.1,ENST00000377072.7,ENST00000377059.7,ENST00000479634.1,ENST00000476557.5,ENSG00000078403.16,ENST00000480415.5,ENST00000307729.11,ENST00000377100.7,ENST00000495130.5,ENST00000631589.1	.	10p12.31	.	.	.	.	.	rs193253280	.	.	0.0149502	0.0149	0.00319489	.	0.00095997	177088	0.01295732	11808	0.01068791	0.01408451	.	.	Zinc finger, PHD-finger;Zinc finger, PHD-type	0.0,D	0.015,B	0.072,B	1,N	.	.	0.54,T	2.6831	-0.140	-0.169	.	.	.	VDB=0.132899;SGB=-0.693079;RPB=0.85638;MQB=1.8282e-09;MQSB=0.934734;BQB=0.932749;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=95;DP4=18,25,11,18;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:55:.:.	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:54:.:.	0/0:30:.:.	0/0:51:.:.	0/1:72:255,0,255:43,29	A	T	0	1	.	.	.	.	.	GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Distinct nuclear expression in a subset of cells in seminiferous ducts.	http://www.proteinatlas.org/ENSG00000078403-MLLT10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 94.4	nucleus but not nucleoli; cytoplasm	.	BP4, PM1
H-	10	25887693	rs370053624	G	T	222	PASS	GPR158	G protein-coupled receptor 158	exonic	NM_020752	.	missense SNV	GPR158:NM_020752:exon11:c.G3138T:p.E1046D	ENST00000376351.3,ENSG00000151025.9,ENST00000490549.1	.	10p12.1	.	.	.	.	.	rs370053624	.	.	0	0.002	0.000399361	.	0.00010495	276326	0.00127240	18862	0.00038865	0.00176678	.	.	.	0.163,T	0.062,B	0.341,B	0.999981,N	0.033819,N	2.42,M	1.33,T	1.9547	-0.047	0.244	0.988570,10.60	.	0.00568192920434	VDB=0.600708;SGB=-0.69311;RPB=0.629342;MQB=2.1893e-08;MQSB=0.936946;BQB=0.933425;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=79;DP4=20,12,19,12;MinDP=35;AN=18;AC=1	GT:DP:PL:AD	0/0:35:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:63:255,0,255:32,31	G	T	0	1	G protein-coupled receptor 158, 614573	.	.	.	16229975|10574461	GO_REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	Nuclear and cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000151025-GPR158/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.6	cytoplasm	.	PM2
M*	10	43292346	rs3814621	T	C	222	PASS	BMS1	Bms1, ribosome assembly protein, S. cerevisiae, homolog of	exonic	NM_014753	.	missense SNV	BMS1:NM_014753:exon10:c.T1654C:p.S552P	ENST00000374518.5,ENSG00000165733.7	.	10q11.21	.	.	.	.	.	rs3814621	.	.	0.038206	0.0337	0.00678914	.	0.00306935	276932	0.04410050	18866	0.03905946	0.04049296	.	-0.0029	.	0.278,T	0.0,B	0.0,B	1,N	0.025079,N	0.69,N	1.65,T	9.3558	-0.757	-1.945	.	.	.	VDB=0.184768;SGB=-0.693144;RPB=0.167178;MQB=1.02761e-11;MQSB=0.899697;BQB=0.94289;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=102;DP4=22,15,23,16;MinDP=32;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:38:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:76:255,0,255:37,39	T	C	0	1	?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal recessive, Autosomal dominant	.	.	.	27626380|11565749|23785305|8724849|11565748	GO_RIBOSOME_BIOGENESIS;GO_RRNA_METABOLIC_PROCESS;GO_RIBOSOME_ASSEMBLY;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_NUCLEOLUS	GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	Mainly nuclear and nucleolar expression in several different tissue types, including cytoplasmic abundance in a subset of tissues.	http://www.proteinatlas.org/ENSG00000165733-BMS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 9.1	nucleus; nucleoli	.	BS1, BS2, BP4, PP2
L	10	50534376	rs117625352	G	A	222	PASS	C10orf71	.	exonic	NM_001135196	.	synonymous SNV	C10orf71:NM_001135196:exon3:c.G3786A:p.Q1262Q	ENST00000374144.7,ENSG00000177354.11	CpG: 36	10q11.23	.	.	.	.	.	rs117625352	.	.	0.0332226	0.0238	0.00479233	.	0.00168952	171054	0.02452668	11620	0.02255054	0.02304965	.	.	.	.	.	.	.	.	.	.	.	0.805	1.112	.	3.96	.	VDB=0.351553;SGB=-0.693147;RPB=0.801906;MQB=7.0836e-14;MQSB=0.92002;BQB=0.895834;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=321;DP4=73,61,62,49;MinDP=66;AN=18;AC=2	GT:DP:PL:AD	0/0:103:.:.	0/0:133:.:.	0/0:122:.:.	0/0:115:.:.	0/0:69:.:.	0/0:66:.:.	0/0:100:.:.	0/1:98:255,0,255:48,50	0/1:147:255,0,255:86,61	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000177354-C10orf71/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 2.1	.	.	.
L	10	51769272	rs782696877	G	A	105	PASS	AGAP6	.	exonic	NM_001077665	.	missense SNV	AGAP6:NM_001077665:exon8:c.G1387A:p.E463K	ENSG00000204149.10,ENST00000374056.8,ENST00000618025.4,ENST00000412531.3	.	10q11.23	.	.	.	Score=0.994581;Name=chr10:51217651	.	rs782696877	.	.	.	.	.	.	0.00053450	271282	0.00617284	18792	0.00272692	0.00176678	.	.	.	0.123,T	0.09,B	0.491,P	0.994325,D	0.000000,D	2.07,M	.	5.9248	0.132	4.661	2.442134,19.09	.	0.00208692590988	VDB=0.109769;SGB=-0.693147;RPB=0.00626323;MQB=0.321542;MQSB=0.00640646;BQB=0.611846;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=157;DP4=59,31,45,1;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:136:138,0,255:90,46	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000204149-AGAP6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 12.9	.	.	.
L	10	69948709	.	G	A	222	PASS	MYPN	Myopalladin	exonic	NM_001256267,NM_001256268,NM_032578	.	synonymous SNV	MYPN:NM_032578:exon13:c.G2751A:p.E917E,MYPN:NM_001256267:exon14:c.G2751A:p.E917E,MYPN:NM_001256268:exon17:c.G1869A:p.E623E	ENST00000354393.6,ENSG00000138347.15,ENST00000613327.4,ENST00000540630.5,ENST00000358913.9	.	10q21.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00001221	245656	0.00017440	17202	.	.	.	0.3341	.	.	.	.	.	.	.	.	.	1.469	1.938	.	3.97	.	VDB=0.37984;SGB=-0.693143;RPB=0.529613;MQB=2.66733e-08;MQSB=0.641363;BQB=0.886495;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=76;DP4=19,3,29,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/1:60:255,0,255:22,38	G	A	0	1	Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive	.	.	.	11309420|18006477|12482578|22892539|28017374|22286171	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_SARCOMERE_ORGANIZATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_ORGANELLE_ASSEMBLY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_MUSCLE_CELL_DEVELOPMENT	GO_I_BAND;GO_CONTRACTILE_FIBER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_SH3_DOMAIN_BINDING;GO_ACTININ_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_ALPHA_ACTININ_BINDING	.	.	.	.	Selective cytoplasmic expression in skeletal and heart muscle.	http://www.proteinatlas.org/ENSG00000138347-MYPN/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 2.3	.	.	PM2
L	10	70992634	rs35746503	C	T	222	PASS	HKDC1	Hexokinase domain-containing protein 1	exonic	NM_025130	.	missense SNV	HKDC1:NM_025130:exon3:c.C341T:p.T114M	ENSG00000156510.12,ENST00000354624.5	.	10q22.1	.	.	.	.	.	rs35746503	.	.	0.0116279	0.0109	0.0169728	0.0075	0.01245881	276752	0.01515955	18866	0.01457443	0.01232394	.	-0.1474	Hexokinase, N-terminal	0.062,T	0.003,B	0.001,B	0.946069,N	0.010227,N	-0.015,N	-4.79,D	7.3778	0.298	0.411	2.851255,21.6	.	.	VDB=0.139146;SGB=-0.693147;RPB=0.307449;MQB=2.12981e-16;MQSB=0.841999;BQB=0.976777;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=182;DP4=40,26,50,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:103:.:.	0/1:142:255,0,255:66,76	C	T	0	1	Hexokinase domain-containing protein 1, 617221	.	.	.	25648650|23903356	GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_NUCLEOTIDE_PHOSPHORYLATION;GO_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_COFACTOR_METABOLIC_PROCESS;GO_ATP_GENERATION_FROM_ADP;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_CARBOHYDRATE_PHOSPHORYLATION;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ADP_METABOLIC_PROCESS;GO_GLUCOSE_6_PHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_GLUCOSE_HOMEOSTASIS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_CARBOHYDRATE_HOMEOSTASIS;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_HEXOSE_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRUVATE_METABOLIC_PROCESS;GO_PHOSPHORYLATION;GO_CELLULAR_HOMEOSTASIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RIBONUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS	.	GO_CARBOHYDRATE_BINDING;GO_KINASE_ACTIVITY;GO_GLUCOSE_BINDING;GO_CARBOHYDRATE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MONOSACCHARIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression with a granular pattern in several tissues.	http://www.proteinatlas.org/ENSG00000156510-HKDC1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 8.8	mitochondria	.	PM1
H	10	71905571	.	G	T	222	PASS	TYSND1	Trypsin domain-containing protein 1	exonic	NM_001040273,NM_173555	.	missense SNV	TYSND1:NM_001040273:exon1:c.C772A:p.L258M,TYSND1:NM_173555:exon1:c.C772A:p.L258M	ENSG00000156521.13,ENST00000335494.5,ENST00000479086.1,ENST00000287078.6	CpG: 123	10q22.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00002578	116386	0.00023861	8382	.	.	.	.	Trypsin-like cysteine/serine peptidase domain	0.0,D	0.871,P	0.997,D	0.999909,D	0.004653,N	2.735,M	-0.48,T	6.5777	0.678	0.989	3.424890,23.0	2.61	0.687783437275	VDB=0.431859;SGB=-0.693132;RPB=0.598283;MQB=0.725046;MQSB=0.964785;BQB=0.882327;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=79;DP4=26,6,25,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:73:.:.	0/0:71:.:.	0/0:67:.:.	0/0:52:.:.	0/0:41:.:.	0/0:30:.:.	0/0:56:.:.	0/1:66:255,0,255:32,34	G	T	0	1	Trypsin domain-containing protein 1, 611017	.	.	.	17255948|16128611|22002062	GO_PROTEIN_MATURATION;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_PROTEIN_OLIGOMERIZATION;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_REGULATION_OF_FATTY_ACID_OXIDATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_LIPID_CATABOLIC_PROCESS;GO_PROTEOLYSIS;GO_REGULATION_OF_FATTY_ACID_BETA_OXIDATION	GO_MICROBODY	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_PROTEASE_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ENZYME_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	A majority of the normal tissues displayed moderate cytoplasmic staining occasionally combined with nuclear positivity. Strong staining was observed in the intestine, gall bladder, seminiferous duct cells and neurons in cerebral cortex. The lung, liver, prostate, glial cells, squamous epithelium and lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000156521-TYSND1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adipose tissue: 3.8	nucleus but not nucleoli; centrosome; cytoplasm	.	PM1, PM2, PP3
H	10	73056484	.	TACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCAC	T	97	PASS	UNC5B	Unc5, C. elegans, homolog of, B	exonic	NM_001244889,NM_170744	.	nonframeshift deletion	UNC5B:NM_001244889:exon14:c.2443_2457del:p.815_819del,UNC5B:NM_170744:exon15:c.2476_2490del:p.826_830del	ENST00000373192.4,ENSG00000107731.12,ENST00000335350.10	.	10q22.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00041643	268952	.	.	0.00081169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0404639;SGB=-0.662043;MQSB=0.351276;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=38;DP4=3,18,4,5;IDV=2;IMF=0.0526316;MinDP=30;AN=16;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	./.:.:.:.	0/0:30:.:.	0/1:30:131,0,255:21,9	TACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCAC	T	0	1	Unc5, C. elegans, homolog of, B, 607870	.	.	.	12351186|21172653|12359238|17908930|15510105|12655055	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_DEATH;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_MEMBRANE_MICRODOMAIN;GO_MEMBRANE_REGION	.	KEGG_AXON_GUIDANCE	PID_NETRIN_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_AXON_GUIDANCE;REACTOME_ROLE_OF_DCC_IN_REGULATING_APOPTOSIS;REACTOME_NETRIN1_SIGNALING;REACTOME_APOPTOSIS	The gastrointestinal tract, exocrine pancreas, adrenal gland, epididymis, hematopoietic cells and a subset of lymphoid cells showed moderate cytoplasmic positivity. Trophoblasts, thyroid gland and cells in distal renal tubules were strongly stained. Remaining normal cells were generally negative.	http://www.proteinatlas.org/ENSG00000107731-UNC5B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	gallbladder: 8.8	.	.	PM2, PM4
L	10	73056490	rs12783281	T	A	101	PASS	UNC5B	Unc5, C. elegans, homolog of, B	exonic	NM_001244889,NM_170744	.	synonymous SNV	UNC5B:NM_001244889:exon14:c.T2448A:p.T816T,UNC5B:NM_170744:exon15:c.T2481A:p.T827T	ENST00000335350.10,ENST00000373192.4,ENSG00000107731.12	.	10q22.1	.	.	.	.	.	rs12783281	.	.	0.00332226	0.004	0.0131789	.	0.00086679	273424	0.00037477	18678	0.00253017	0.00088183	.	-1.1886	.	.	.	.	.	.	.	.	.	-0.282	-0.813	.	.	.	VDB=0.00011609;SGB=-0.651104;RPB=0.0102764;MQB=0.000312702;MQSB=0.306152;BQB=0.920573;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=32;DP4=3,17,4,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	0/0:50:.:.	0/0:30:.:.	0/1:28:135,0,255:20,8	T	A	0	1	Unc5, C. elegans, homolog of, B, 607870	.	.	.	12351186|21172653|12359238|17908930|15510105|12655055	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_DEATH;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_ANGIOGENESIS;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_MEMBRANE_MICRODOMAIN;GO_MEMBRANE_REGION	.	KEGG_AXON_GUIDANCE	PID_NETRIN_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_AXON_GUIDANCE;REACTOME_ROLE_OF_DCC_IN_REGULATING_APOPTOSIS;REACTOME_NETRIN1_SIGNALING;REACTOME_APOPTOSIS	The gastrointestinal tract, exocrine pancreas, adrenal gland, epididymis, hematopoietic cells and a subset of lymphoid cells showed moderate cytoplasmic positivity. Trophoblasts, thyroid gland and cells in distal renal tubules were strongly stained. Remaining normal cells were generally negative.	http://www.proteinatlas.org/ENSG00000107731-UNC5B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	gallbladder: 8.8	.	.	BP7
H	10	75147545	.	G	GAAT	198	PASS	ANXA7	Annexin A7 (synexin)	splicing	NM_001156,NM_001320879,NM_001320880,NM_004034	NM_001156:exon7:c.539-4->ATT;NM_001320879:exon6:c.419-4->ATT;NM_001320880:exon7:c.485-4->ATT;NM_004034:exon8:c.605-4->ATT	.	.	ENST00000492380.1,ENSG00000138279.15,ENST00000372921.9,ENST00000372919.8	.	10q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00478088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00509626;SGB=-0.690438;MQSB=0.70028;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=127;DP4=19,28,25,18;IDV=5;IMF=0.131579;MinDP=7;AN=14;AC=3	GT:DP:PL:AD	0/0:15:.:.	0/0:7:.:.	./.:.:.:.	0/1:32:231,0,255:15,17	./.:.:.:.	0/1:31:186,0,255:18,13	0/0:12:.:.	0/0:10:.:.	0/1:27:202,0,255:14,13	G	GAAT	0	3	Annexin A7 (synexin), 186360	.	.	.	2542947|8855260|11390641|1825209|7515686|10570150|11287641|14608035|8053909	GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_MEMBRANE_FUSION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_AUTOPHAGY;GO_CELL_PROLIFERATION;GO_RESPONSE_TO_SALT_STRESS;GO_INTRASPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CELL_SIZE;GO_WATER_HOMEOSTASIS;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_CELLULAR_WATER_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELL_VOLUME_HOMEOSTASIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELLULAR_HOMEOSTASIS;GO_RESPONSE_TO_OSMOTIC_STRESS;GO_BEHAVIOR;GO_TISSUE_DEVELOPMENT;GO_HEMOSTASIS;GO_MULTI_ORGANISM_BEHAVIOR;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_NUCLEAR_ENVELOPE;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_SECRETORY_VESICLE;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_SECRETORY_GRANULE_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_CALCIUM_ION_BINDING;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_INTEGRIN_BINDING;GO_POLY_A_RNA_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	Most normal cells showed weak to moderate cytoplasmic positivity. Islet cells of Langerhans and endocrine glands displayed strong immunoreactivity.	http://www.proteinatlas.org/ENSG00000138279-ANXA7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 75.3	nucleus but not nucleoli; cytoplasm	.	PM2
H-	10	75283406	.	T	C	222	PASS	USP54	.	exonic	NM_001320437,NM_001350995,NM_152586	.	missense SNV	USP54:NM_001320437:exon15:c.A2126G:p.E709G,USP54:NM_152586:exon15:c.A2297G:p.E766G,USP54:NM_001350995:exon16:c.A2126G:p.E709G	ENSG00000166348.18,ENST00000498143.5,ENST00000497106.5,ENST00000339859.8,ENST00000466048.6,ENST00000418501.5,ENST00000422491.6,ENST00000424265.5	.	10q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8429	.	0.001,D	0.996,D	1.0,D	1,D	0.000002,U	2.395,M	1.12,T	16.1388	2.205	7.179	6.214352,28.7	5.79	0.0870849900826	VDB=0.0722181;SGB=-0.692831;RPB=0.833817;MQB=2.78527e-07;MQSB=0.905559;BQB=0.816361;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=62;DP4=13,8,17,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:33:.:.	0/1:45:255,0,255:21,24	T	C	0	1	.	.	.	.	.	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic and occasional nuclear staining. Most squamous epithelial cells were weakly stained. Bile duct cells and cells in glomeruli were negative.	http://www.proteinatlas.org/ENSG00000166348-USP54/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 12.6	mitochondria	.	PM2, PP3
M	10	81317230	rs758513334	C	T	222	PASS	SFTPA2	Surfactant, pulmonary-associated protein A2	exonic	NM_001098668,NM_001320813,NM_001320814	.	missense SNV	SFTPA2:NM_001320814:exon5:c.G512A:p.R171H,SFTPA2:NM_001098668:exon6:c.G482A:p.R161H,SFTPA2:NM_001320813:exon6:c.G482A:p.R161H	ENST00000372327.9,ENST00000372325.6,ENSG00000185303.16	.	10q22.3	.	.	.	.	.	rs758513334	.	.	.	.	.	.	0.00003622	276064	.	.	0.00058320	.	.	.	C-type lectin;C-type lectin fold;C-type lectin-like	0.191,T	0.002,B	0.006,B	1,N	0.047888,N	0.16,N	2.25,T	6.8442	-0.842	-0.997	.	.	0.00107886660703	VDB=0.000365636;SGB=-0.693147;RPB=0.948299;MQB=0.524571;MQSB=3.90459e-09;BQB=0.185286;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=184;DP4=37,49,10,59;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:155:255,0,255:86,69	C	T	0	1	Pulmonary fibrosis, idiopathic, 178500 (3), Autosomal dominant	.	.	.	1372511|8406480|11174628|19100526	GO_RESPIRATORY_GASEOUS_EXCHANGE	GO_EXTRACELLULAR_MATRIX;GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_ENDOCYTIC_VESICLE;GO_CLATHRIN_COATED_VESICLE;GO_ENDOPLASMIC_RETICULUM_PART;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_LAMELLAR_BODY;GO_COATED_VESICLE;GO_ENDOPLASMIC_RETICULUM;GO_COLLAGEN_TRIMER	GO_CARBOHYDRATE_BINDING	.	PID_HNF3A_PATHWAY	.	.	Highly specific cytoplasmic expression in type II pneumocytes.	http://www.proteinatlas.org/ENSG00000185303-SFTPA2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 18.5	.	.	BP4, PM1, PM2, PP2
H	10	81929021	rs201713183	C	T	222	PASS	ANXA11	Annexin A11 (annexin XI)	exonic	NM_001157,NM_001278407,NM_001278408,NM_001278409,NM_145868,NM_145869	.	missense SNV	ANXA11:NM_001157:exon4:c.G265A:p.G89S,ANXA11:NM_145868:exon5:c.G265A:p.G89S,ANXA11:NM_001278407:exon6:c.G265A:p.G89S,ANXA11:NM_001278408:exon6:c.G265A:p.G89S,ANXA11:NM_001278409:exon6:c.G166A:p.G56S,ANXA11:NM_145869:exon6:c.G265A:p.G89S	ENST00000438331.5,ENST00000372231.7,ENST00000265447.8,ENST00000422982.7,ENST00000437799.1,ENSG00000122359.17	.	10q22.3	.	.	Score=973;Name=V$PAX2_02	.	.	rs201713183	.	.	0.00498339	0.003	0.000599042	.	0.00025981	269424	0.00321923	18638	0.00155521	0.00266430	.	-0.2542	.	0.049,D	0.952,D	1.0,D	0.999998,D	0.167612,N	1.05,L	4.41,T	15.4393	2.328	2.791	3.185644,22.7	4.66	0.0180291183496	VDB=0.619836;SGB=-0.69312;RPB=0.201202;MQB=9.81588e-09;MQSB=0.360331;BQB=0.97681;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=80;DP4=21,8,20,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:41:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:35:.:.	0/0:40:.:.	0/1:61:255,0,255:29,32	C	T	0	1	Annexin A11 (annexin XI), 602572	.	.	.	11013079|7508441|9503022	GO_CELL_DIVISION;GO_VESICLE_MEDIATED_TRANSPORT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_CELL_CYCLE;GO_ENDOCYTOSIS;GO_PHAGOCYTOSIS;GO_RESPONSE_TO_CALCIUM_ION	GO_PHAGOCYTIC_VESICLE;GO_NUCLEAR_ENVELOPE;GO_MICROTUBULE_CYTOSKELETON;GO_SECRETORY_GRANULE;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_ENDOCYTIC_VESICLE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPECIFIC_GRANULE;GO_INTRACELLULAR_VESICLE;GO_MIDBODY;GO_LYTIC_VACUOLE;GO_ENVELOPE;GO_PIGMENT_GRANULE;GO_SPINDLE;GO_PRIMARY_LYSOSOME	GO_MHC_PROTEIN_COMPLEX_BINDING;GO_CALCIUM_ION_BINDING;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_S100_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MHC_CLASS_II_PROTEIN_COMPLEX_BINDING;GO_POLY_A_RNA_BINDING;GO_ANTIGEN_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000122359-ANXA11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 127.5	nucleus but not nucleoli; cytoplasm	.	PM2
H	10	90574959	rs570061659	T	C	222	PASS	LIPM	Lipase family, member M	exonic	NM_001128215	.	missense SNV	LIPM:NM_001128215:exon5:c.T689C:p.L230S	ENST00000539337.2,ENST00000404743.8,ENSG00000173239.13	.	10q23.31	.	.	.	.	.	rs570061659	.	.	0.00166113	0.001	0.000199681	.	0.00008190	183148	0.00126497	11858	0.00058298	0.00088028	.	0.1424	Alpha/Beta hydrolase fold;Alpha/beta hydrolase fold-1	0.256,T	0.215,B	0.386,B	0.964805,N	0.000441,D	0.89,L	-0.57,T	10.4947	2.108	0.068	1.937816,15.82	5.58	0.0317387159615	VDB=0.0405297;SGB=-0.693127;RPB=0.999007;MQB=4.48354e-08;MQSB=0.971553;BQB=0.990086;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=81;DP4=20,7,28,5;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:60:255,0,255:27,33	T	C	0	1	Lipase family, member M, 613923	.	.	.	17562024	GO_DIGESTION;GO_LIPID_DIGESTION;GO_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	.	GO_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000173239-LIPM/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 0.9	.	.	PM1, PM2
H	10	94834946	rs367762887	A	G	222	PASS	CYP26A1	Cytochrome p450, subfamily XXVIA, polypeptide 1	exonic	NM_000783,NM_057157	.	missense SNV	CYP26A1:NM_000783:exon4:c.A746G:p.Q249R,CYP26A1:NM_057157:exon4:c.A539G:p.Q180R	ENST00000371531.5,ENST00000224356.4,ENSG00000095596.11,ENST00000622925.1,ENST00000624589.3	CpG: 173	10q23.33	.	.	Score=965;Name=V$HSF2_01	.	.	rs367762887	.	.	0.0166113	0.0139	0.00279553	7.7e-05	0.00015919	276392	0.00212224	18848	0.00116595	0.00088028	.	0.1766	.	0.236,T	0.005,B	0.0,B	0.976016,N	0.000002,D	0.17,N	-0.43,T	13.9269	2.226	6.153	2.221077,17.65	5.27	.	VDB=0.848625;SGB=-0.693147;RPB=0.774916;MQB=3.22219e-24;MQSB=0.700571;BQB=0.701246;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=200;DP4=41,38,42,43;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:164:255,0,255:79,85	A	G	0	1	Cytochrome p450, subfamily XXVIA, polypeptide 1, 602239	.	.	.	19416885|17460545|11953746|9228017|9521883	GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_TERPENOID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_FAT_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_RETINOIC_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_VITAMIN_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_HORMONE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_RETINOIC_ACID_BINDING;GO_MONOOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_OXYGEN_BINDING;GO_ISOPRENOID_BINDING;GO_ORGANIC_ACID_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_TETRAPYRROLE_BINDING;GO_IRON_ION_BINDING;GO_LIPID_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_MONOCARBOXYLIC_ACID_BINDING	KEGG_RETINOL_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	.	http://www.proteinatlas.org/ENSG00000095596-CYP26A1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	cerebral cortex: 0.4	.	.	.
L	10	99512809	rs765173648	C	T	222	PASS	ZFYVE27	Zinc finger FYVE domain-containing protein 27	exonic	NM_001002261,NM_001002262,NM_001174119,NM_001174120,NM_001174121,NM_001174122,NM_144588	.	synonymous SNV	ZFYVE27:NM_001174122:exon6:c.C537T:p.G179G,ZFYVE27:NM_001174120:exon7:c.C633T:p.G211G,ZFYVE27:NM_001174121:exon7:c.C612T:p.G204G,ZFYVE27:NM_001174119:exon8:c.C795T:p.G265G,ZFYVE27:NM_001002261:exon9:c.C927T:p.G309G,ZFYVE27:NM_001002262:exon9:c.C891T:p.G297G,ZFYVE27:NM_144588:exon10:c.C912T:p.G304G	ENSG00000155256.17,ENST00000393677.8,ENST00000370610.7,ENST00000357540.8,ENST00000423811.3,ENST00000370613.7,ENST00000359980.5,ENST00000337540.11	.	10q24.2	.	.	.	.	.	rs765173648	.	.	.	.	.	.	0.00002971	269272	.	.	.	.	.	-1.8351	.	.	.	.	.	.	.	.	.	-3.681	-1.408	1.597065,13.84	.	.	VDB=0.0857424;SGB=-0.693127;RPB=0.666751;MQB=1.59208e-08;MQSB=0.640004;BQB=0.620585;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=114;DP4=35,21,22,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:56,33	C	T	0	1	Spastic paraplegia 33, autosomal dominant, 610244 (3), Autosomal dominant	.	.	.	23969831|24668814|16826525|18606302|25497598|25855459|17082457	GO_NEURON_DEVELOPMENT;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_RESPONSE_TO_GROWTH_FACTOR;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_NEUROTROPHIN_TRK_RECEPTOR_SIGNALING_PATHWAY;GO_NEUROTROPHIN_SIGNALING_PATHWAY;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_ENDOPLASMIC_RETICULUM_TUBULAR_NETWORK;GO_VACUOLE;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_AXON;GO_ENDOPLASMIC_RETICULUM_PART;GO_NEURON_PROJECTION;GO_VACUOLAR_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_RECYCLING_ENDOSOME_MEMBRANE;GO_ENDOSOMAL_PART;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENDOPLASMIC_RETICULUM;GO_RECYCLING_ENDOSOME;GO_ENDOSOME;GO_DENDRITE;GO_ORGANELLE_SUBCOMPARTMENT;GO_ENDOPLASMIC_RETICULUM_SUBCOMPARTMENT;GO_VACUOLAR_MEMBRANE	.	.	.	.	.	Most of the normal tissues displayed moderate granular cytoplasmic and/or nuclear positivity. Strong nuclear staining was observed in thyroid, urothelium, prostate and bone marrow poietic cells. Stomach, bile ducts, pancreatic islets and neurons were negative.	http://www.proteinatlas.org/ENSG00000155256-ZFYVE27/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 17.4	nucleus; cytoplasm	.	BP7, PM2
L	10	101294936	rs113459553	C	T	222	PASS	NKX2-3	.	exonic	NM_145285	.	synonymous SNV	NKX2-3:NM_145285:exon2:c.C553T:p.L185L	ENST00000344586.8,ENST00000622383.1,ENSG00000119919.10	CpG: 211	10q24.2	.	.	Score=685;Name=V$PPARG_02	.	.	rs113459553	.	.	0.00996678	0.0109	0.033147	0.0417	0.03735889	275490	0.01238571	18812	0.00796735	0.00616197	.	.	.	.	.	.	.	.	.	.	.	1.288	2.596	2.158639,17.24	4.55	.	VDB=0.0451473;SGB=-0.693147;RPB=0.0189899;MQB=2.28428e-12;MQSB=0.794712;BQB=0.929098;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=141;DP4=36,25,29,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/1:106:255,0,255:61,45	C	T	0	1	.	.	.	.	.	GO_LEUKOCYTE_ACTIVATION;GO_GLAND_MORPHOGENESIS;GO_IMMUNE_SYSTEM_PROCESS;GO_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_LYMPH_NODE_DEVELOPMENT;GO_HOMEOSTATIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_MOTILITY;GO_B_CELL_DIFFERENTIATION;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELL_CELL_ADHESION;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_LEUKOCYTE_MIGRATION;GO_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION;GO_LYMPHOCYTE_ACTIVATION;GO_B_CELL_ACTIVATION;GO_ORGAN_MORPHOGENESIS;GO_DIGESTIVE_TRACT_MORPHOGENESIS;GO_POST_EMBRYONIC_MORPHOGENESIS;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_LIPID_METABOLIC_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_ALPHA_BETA_T_CELL_ACTIVATION;GO_IMMUNE_RESPONSE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_MACROPHAGE_DIFFERENTIATION;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_MATURE_B_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_MATURE_B_CELL_DIFFERENTIATION;GO_TUBE_MORPHOGENESIS;GO_MYELOID_CELL_DIFFERENTIATION;GO_GLAND_DEVELOPMENT;GO_LYMPHOCYTE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_POST_EMBRYONIC_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_LYMPHOCYTE_DIFFERENTIATION;GO_LEUKOCYTE_HOMEOSTASIS;GO_SPLEEN_DEVELOPMENT;GO_IMMUNE_EFFECTOR_PROCESS;GO_ODONTOGENESIS;GO_B_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Skeletal muscle cells and subset of renal tubules displayed strong cytoplasmic staining. Moderate staining was observed in heart muscle cells, exocrine pancreas and smooth muscle cells with additional membranous positivity in intestine, gall bladder and bronchus. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000119919-NKX2-3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	duodenum: 8.0	.	.	BS1, BS2, PP3
H	10	104159189	rs780831146	C	T	222	PASS	NFKB2	Nuclear factor of kappa light chain gene enhancer in B-cells 2 (p49/p100); oncogene Lyt-10	exonic	NM_001077494,NM_001261403,NM_001288724,NM_001322934,NM_001322935,NM_002502	.	missense SNV	NFKB2:NM_001261403:exon12:c.C1262T:p.A421V,NFKB2:NM_001322935:exon12:c.C1136T:p.A379V,NFKB2:NM_001077494:exon13:c.C1262T:p.A421V,NFKB2:NM_001288724:exon13:c.C1262T:p.A421V,NFKB2:NM_001322934:exon13:c.C1262T:p.A421V,NFKB2:NM_002502:exon13:c.C1262T:p.A421V	ENST00000428099.5,ENST00000336486.5,ENST00000189444.10,ENSG00000077150.18,ENST00000369966.7	CpG: 57	10q24.32	.	.	.	.	.	rs780831146	.	.	.	.	.	.	0.00001756	113922	0.00024888	8036	.	.	.	0.2082	.	0.264,T	0.01,B	0.186,B	1,N	0.911459,N	1.1,L	2.53,T	2.3867	0.224	-0.251	1.289719,12.22	.	0.0141751618267	VDB=0.848389;SGB=-0.692831;RPB=0.809014;MQB=3.50298e-08;MQSB=0.207933;BQB=0.352725;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=62;DP4=23,4,15,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:52:.:.	0/0:32:.:.	0/1:51:255,0,255:27,24	C	T	0	1	Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant	.	.	.	8717528|17254973|25524009|9895331|24140114|12352969|12697057|9359707|25237204|1612589|24888602|8423996|1760839|22013103|12351572|25349408|18025196|17039258	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_DEFENSE_RESPONSE;GO_AGING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_BACTERIUM;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_INFLAMMATORY_RESPONSE;GO_NIK_NF_KAPPAB_SIGNALING;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_LIPID;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_RHYTHMIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_CYTOKINE;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_SPLEEN_DEVELOPMENT;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER	PID_IL12_2PATHWAY	.	REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_RIP_MEDIATED_NFKB_ACTIVATION_VIA_DAI;REACTOME_TAK1_ACTIVATES_NFKB_BY_PHOSPHORYLATION_AND_ACTIVATION_OF_IKKS_COMPLEX;REACTOME_SIGNALING_BY_ILS;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Cytoplasmic expression in most tissues, highest expression levels in lymphoid tissues.	http://www.proteinatlas.org/ENSG00000077150-NFKB2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	appendix: 46.3	cytoplasm; nucleus but not nucleoli	.	.
L	10	111967649	rs201906236	C	G	210	PASS	MXI1	MAX-interacting protein 1	exonic	NM_130439	.	missense SNV	MXI1:NM_130439:exon1:c.C83G:p.P28R	ENST00000332674.9,ENSG00000228417.1,ENST00000453116.5,ENSG00000119950.20,ENST00000451656.1	CpG: 221	10q25.2	.	.	.	.	Score=226;Name="631676:C-rich(Low_complexity)"	rs201906236	.	.	0.0548173	0.0476	0.0127796	.	0.00291255	102316	0.04996624	2962	0.04158570	0.03716814	.	.	.	0.006,D	0.354,B	0.982,D	0.856013,N	0.971037,U	.	0.55,T	6.6894	1.193	1.324	2.083098,16.74	.	.	VDB=0.0461032;SGB=-0.692562;RPB=0.805099;MQB=4.27295e-06;MQSB=0.44186;BQB=0.0480936;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=65;DP4=23,0,20,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/1:45:243,0,236:23,22	C	G	0	1	Neurofibrosarcoma (3); {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant	.	.	.	7789959|7773287|8290278|10470286|9669667|9624006|7829091|8530024|7959753|8838813|8425219	GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_MAINTENANCE_OF_LOCATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_CYTOPLASMIC_SEQUESTERING_OF_TRANSCRIPTION_FACTOR;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_CYTOPLASMIC_SEQUESTERING_OF_PROTEIN;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_PROTEIN_TARGETING;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_NUCLEOLUS	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	Moderate nuclear and/or cytoplasmic positivity was observed in most normal tissues. The large intestine and gall bladder were strongly stained. The liver, prostate and spleen were negative.	http://www.proteinatlas.org/ENSG00000119950-MXI1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 65.3	nucleus; nucleoli	.	BS1
H	10	114925441	rs138649767	G	A	222	PASS	TCF7L2	Transcription factor 7-like 2	exonic	NM_001146274,NM_001146285,NM_001198526,NM_030756	.	missense SNV	TCF7L2:NM_001146285:exon13:c.G1450A:p.A484T,TCF7L2:NM_001198526:exon13:c.G1450A:p.A484T,TCF7L2:NM_001146274:exon14:c.G1519A:p.A507T,TCF7L2:NM_030756:exon14:c.G1501A:p.A501T	ENST00000627217.2,ENST00000543371.5,ENST00000355717.9,ENSG00000148737.16,ENST00000534894.5,ENST00000466338.5,ENST00000538897.5,ENST00000369397.8,ENST00000536810.5,ENST00000355995.8,ENST00000369386.5,ENST00000545257.6,ENST00000542695.5,ENST00000470254.1,ENST00000629706.2,ENST00000480888.1	.	10q25.3	.	.	Score=795;Name=V$GFI1_01	.	.	rs138649767	.	.	0.00498339	0.0089	0.00179712	.	0.00101328	272384	0.01462523	18598	0.01301982	0.01144366	.	.	.	0.008,D	0.175,B	0.893,P	1,D	0.000106,D	1.355,L	-5.08,D	10.5909	2.417	5.118	3.915723,23.5	4.23	.	VDB=0.962571;SGB=-0.693147;RPB=0.287226;MQB=0.000884477;MQSB=0.401097;BQB=0.087584;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=259;DP4=47,64,30,64;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:205:255,0,255:111,94	G	A	0	1	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant	.	.	.	21892161|12408869|1741298|17463246|10090898|10828605|10485457|10919662|16855264|17503332|20118932|15853773|16415884|17340123|17206141|9697701|9065401|17671651|17245407|18097733|18039847|9065402|20889500|16007074|17609304|19718027|17470138|19602480|12851856|12048202|21673050|17463248|19386626|17293876|20133699|17460697|12408868|17554300|16714285|15525634|17463249	GO_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_PROTEIN_BINDING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_HORMONE_LEVELS;GO_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_CELL_CYCLE_ARREST;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_WNT_SIGNALING_PATHWAY_CALCIUM_MODULATING_PATHWAY;GO_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PANCREAS_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INSULIN_SECRETION;GO_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_MYOBLAST_DIFFERENTIATION;GO_REGULATION_OF_HORMONE_SECRETION;GO_CELL_PROLIFERATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_RESPONSE_TO_CARBOHYDRATE;GO_POSITIVE_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_CARBOHYDRATE_HOMEOSTASIS;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_CELL_FATE_COMMITMENT;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_HORMONE_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_BETA_CATENIN_TCF_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_SULFUR_METABOLIC_PROCESS;GO_REGULATION_OF_BINDING;GO_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_CHROMOSOME;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_BODY;GO_PML_BODY;GO_NUCLEAR_CHROMOSOME;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEOPLASM_PART;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX	GO_BETA_CATENIN_BINDING;GO_HORMONE_RECEPTOR_BINDING;GO_KINASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_GAMMA_CATENIN_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RECEPTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_ARMADILLO_REPEAT_DOMAIN_BINDING	KEGG_WNT_SIGNALING_PATHWAY;KEGG_ADHERENS_JUNCTION;KEGG_MELANOGENESIS;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_PROSTATE_CANCER;KEGG_THYROID_CANCER;KEGG_BASAL_CELL_CARCINOMA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_AP1_PATHWAY;PID_BETA_CATENIN_NUC_PATHWAY	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000148737-TCF7L2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 23.8	nucleus but not nucleoli	.	BS2
M	10	116698104	.	T	C	222	PASS	TRUB1	TRUB pseudouridine synthase, E. coli, homolog of, 1	exonic	NM_139169	.	missense SNV	TRUB1:NM_139169:exon1:c.T92C:p.M31T	ENST00000298746.4,ENSG00000165832.5	CpG: 39	10q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.0,B	0.0,B	1,N	0.617126,N	-0.345,N	1.06,T	6.1561	-0.930	-0.487	.	.	0.00205625742666	VDB=0.152442;SGB=-0.693147;RPB=0.853138;MQB=6.07896e-24;MQSB=0.636075;BQB=0.953567;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=247;DP4=58,21,62,36;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:177:255,0,255:79,98	T	C	0	1	TRUB pseudouridine synthase, E. coli, homolog of, 1, 610726	.	.	.	12736709	GO_TRNA_METABOLIC_PROCESS;GO_MRNA_MODIFICATION;GO_RNA_PROCESSING;GO_PSEUDOURIDINE_SYNTHESIS;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_NCRNA_METABOLIC_PROCESS;GO_MRNA_METABOLIC_PROCESS;GO_TRNA_PROCESSING;GO_TRNA_MODIFICATION	.	GO_PSEUDOURIDINE_SYNTHASE_ACTIVITY;GO_INTRAMOLECULAR_TRANSFERASE_ACTIVITY;GO_ISOMERASE_ACTIVITY;GO_RNA_BINDING	.	.	.	.	Respiratory epithelia, gastrointestinal tract, gall bladder, adrenal cortex, renal tubules, prostate and endometrial glands displayed moderate cytoplasmic immunoreactivity. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000165832-TRUB1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 26.6	vesicles; cytoskeleton (actin filaments)	.	BP4, PM2
H	10	118364914	rs116840175	G	A	222	PASS	PNLIPRP1	Pancreatic lipase-related protein 1	exonic	NM_001303135,NM_006229	.	missense SNV	PNLIPRP1:NM_001303135:exon12:c.G1189A:p.G397S,PNLIPRP1:NM_006229:exon12:c.G1189A:p.G397S	ENST00000528052.5,ENST00000525820.5,ENSG00000187021.14,ENST00000482833.1,ENST00000358834.8,ENST00000526223.5,ENST00000534537.5,ENST00000531825.5	.	10q25.3	.	.	.	.	.	rs116840175	.	.	0.0116279	0.0119	0.00259585	7.7e-05	0.00119029	275564	0.01717312	18692	0.01088224	0.01672535	.	2.8556	Lipase/lipooxygenase, PLAT/LH2;PLAT/LH2 domain	0.014,D	0.406,B	0.386,B	0.982792,N	0.002819,N	2.71,M	0.8,T	17.2265	2.645	2.702	3.467854,23.0	4.68	.	VDB=0.65348;SGB=-0.683931;RPB=0.986161;MQB=0.00048545;MQSB=0.9;BQB=0.585274;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=141;DP4=55,6,40,11;MinDP=30;AN=18;AC=3	GT:PL:DP:AD	0/1:205,0,144:22:9,13	0/0:.:30:.	0/1:255,0,255:47:26,21	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:31:.	0/1:214,0,255:43:26,17	G	A	0	3	Pancreatic lipase-related protein 1, 604422	.	.	.	1379598	GO_LIPID_METABOLIC_PROCESS	GO_EXTRACELLULAR_SPACE	GO_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM	.	.	.	.	http://www.proteinatlas.org/ENSG00000187021-PNLIPRP1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	ovary: 3.5	.	.	PM1
L	10	121510631	rs199760450	G	A	222	PASS	INPP5F	Inositol polyphosphate 5-phosphatase F	exonic	NM_001243195,NM_014937	.	synonymous SNV	INPP5F:NM_001243195:exon2:c.G141A:p.L47L,INPP5F:NM_014937:exon2:c.G141A:p.L47L	ENSG00000198825.12,ENST00000369081.3,ENST00000361976.6	.	10q26.11	.	.	.	.	.	rs199760450	.	.	0.00166113	0.002	0.000399361	.	0.00031388	277172	0.00455798	18868	0.00388651	0.00176056	.	-4.3698	.	.	.	.	.	.	.	.	.	0.882	1.901	0.960133,10.43	4.22	.	VDB=0.120141;SGB=-0.692976;RPB=0.767106;MQB=6.76518e-07;MQSB=0.582365;BQB=0.988006;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=74;DP4=17,7,17,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:50:255,0,255:24,26	G	A	0	1	Inositol polyphosphate 5-phosphatase F, 609389	.	.	.	11274189|10231032	GO_CARDIAC_MUSCLE_ADAPTATION;GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;GO_CELLULAR_CATABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_VESICLE_MEDIATED_TRANSPORT;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_VACUOLAR_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MUSCLE_ADAPTATION;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_NEUROGENESIS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION;GO_SYSTEM_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_REGENERATION;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DEPHOSPHORYLATION;GO_MUSCLE_HYPERTROPHY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_LIPID_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_STAT_CASCADE;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT3_PROTEIN;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RECEPTOR_RECYCLING;GO_PHOSPHOLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_STAT_CASCADE;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_STRIATED_MUSCLE_ADAPTATION;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RECEPTOR_RECYCLING;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	GO_COATED_PIT;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_CLATHRIN_COATED_VESICLE;GO_EARLY_ENDOSOME_MEMBRANE;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_VACUOLAR_PART;GO_ENDOSOMAL_PART;GO_COATED_VESICLE;GO_MEMBRANE_REGION;GO_RECYCLING_ENDOSOME;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_5_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_INOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY	.	.	.	.	Squamous and transitional epithelia along with lung macrophages and a subset of pneumocytes displayed strong cytoplasmic and nuclear positivity. Endothelial cells and subsets of inflammatory cells were distinctly stained. Remaining normal tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000198825-INPP5F/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 57.6	nucleus; centrosome	.	PM2
H	10	121586395	.	G	A	222	PASS	INPP5F	Inositol polyphosphate 5-phosphatase F	exonic	NM_001243194,NM_014937	.	missense SNV	INPP5F:NM_001243194:exon6:c.G672A:p.M224I,INPP5F:NM_014937:exon20:c.G2502A:p.M834I	ENSG00000198825.12,ENST00000369080.4,ENST00000637174.1,ENST00000361976.6	.	10q26.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	.	SAC domain	0.329,T	0.002,B	0.001,B	0.650939,D	0.002705,N	1.905,L	0.95,T	12.8263	1.517	1.046	1.655842,14.16	5.02	0.00579358010856	VDB=0.919979;SGB=-0.69312;RPB=0.86781;MQB=1.57172e-09;MQSB=0.785675;BQB=0.997659;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=68;DP4=21,6,21,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:48:.:.	0/1:59:255,0,255:27,32	G	A	0	1	Inositol polyphosphate 5-phosphatase F, 609389	.	.	.	11274189|10231032	GO_CARDIAC_MUSCLE_ADAPTATION;GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;GO_CELLULAR_CATABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_VESICLE_MEDIATED_TRANSPORT;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_VACUOLAR_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MUSCLE_ADAPTATION;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_NEUROGENESIS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION;GO_SYSTEM_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_REGENERATION;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DEPHOSPHORYLATION;GO_MUSCLE_HYPERTROPHY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_LIPID_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_STAT_CASCADE;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT3_PROTEIN;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RECEPTOR_RECYCLING;GO_PHOSPHOLIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_STAT_CASCADE;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_STRIATED_MUSCLE_ADAPTATION;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RECEPTOR_RECYCLING;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	GO_COATED_PIT;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_CLATHRIN_COATED_VESICLE;GO_EARLY_ENDOSOME_MEMBRANE;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_VACUOLAR_PART;GO_ENDOSOMAL_PART;GO_COATED_VESICLE;GO_MEMBRANE_REGION;GO_RECYCLING_ENDOSOME;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_5_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_INOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY	.	.	.	.	Squamous and transitional epithelia along with lung macrophages and a subset of pneumocytes displayed strong cytoplasmic and nuclear positivity. Endothelial cells and subsets of inflammatory cells were distinctly stained. Remaining normal tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000198825-INPP5F/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 57.6	nucleus; centrosome	.	PM1, PM2
L	10	124810704	rs753732388	TAAAA	T	33.4203	PASS	ACADSB	Acyl-Coenzyme A dehydrogenase, short/branched chain	splicing	NM_001330174,NM_001609	.	.	.	ENSG00000196177.12,ENST00000368869.8,ENST00000358776.6	.	10q26.13	.	.	.	.	Score=237;Name="655140:(A)n(Simple_repeat)"	rs753732388	.	.	.	.	.	.	.	.	.	.	0.00391083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.594105,18.30	.	.	INDEL;VDB=0.275478;SGB=-0.616816;MQSB=0.5;MQ0F=0;MQ=49;DP=23;DP4=0,0,2,4;IDV=13;IMF=0.565217;MinDP=5;AN=10;AC=2	GT:DP:PL:AD	./.:.:.:.	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	1/1:6:63,15,0:0,5	TAAAA	T	1	0	2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive	.	.	.	11013134|7759115|10832746|16317551|7698750|17945527	GO_LIPID_MODIFICATION;GO_FATTY_ACID_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_FATTY_ACID_BETA_OXIDATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_DEHYDROGENASE;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_LIPID_HOMEOSTASIS;GO_CELLULAR_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_BRANCHED_CHAIN_AMINO_ACID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_LIPID_OXIDATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS;GO_SULFUR_COMPOUND_BINDING;GO_FATTY_ACYL_COA_BINDING;GO_ELECTRON_CARRIER_ACTIVITY;GO_COFACTOR_BINDING;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_ACYL_COA_DEHYDROGENASE_ACTIVITY;GO_COENZYME_BINDING	KEGG_FATTY_ACID_METABOLISM;KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_BRANCHED_CHAIN_AMINO_ACID_CATABOLISM	Endocrine glands, duodenum, renal tubules, bladder and Leydig cells showed strong cytoplasmic staining. Respiratory epithelia, gastrointestinal tract, hepatocytes, exocrine pancreas, breast, seminiferus duct cells and heart exhibited moderate positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000196177-ACADSB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 122.6	mitochondria	.	PM2
H	10	125780752	.	C	CGGGG	21.4558	PASS	CHST15	Carbohydrate sulfotransferase 15	exonic	NM_001270765,NM_014863	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1366_1367insCCCC:p.R456fs,CHST15:NM_014863:exon6:c.1366_1367insCCCC:p.R456fs	ENST00000346248.7,ENSG00000182022.17,ENST00000628426.1,ENST00000435907.5,ENST00000476765.1	.	10q26.13	.	.	.	.	.	.	.	.	.	.	.	.	0.00001325	150942	.	.	0.09976617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.651849;SGB=-0.693127;MQSB=0.935484;MQ0F=0;MQ=49;DP=46;DP4=0,0,31,2;IDV=31;IMF=0.659574;MinDP=31;AN=10;AC=2	GT:DP:PL:AD	./.:.:.:.	./.:.:.:.	0/0:32:.:.	./.:.:.:.	0/0:50:.:.	0/0:33:.:.	0/0:31:.:.	./.:.:.:.	1/1:33:54,12,3:0,3	C	CGGGG	1	0	Carbohydrate sulfotransferase 15, 608277	.	.	.	9628581|11572857|10749872|9754571|11032940	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_HEXOSE_METABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_SULFUR_COMPOUND_BINDING;GO_SULFOTRANSFERASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	Most normal tissues showed moderate cytoplasmic staining, often in a granular pattern. Stomach, duodenum, distal renal tubules, ovarian follicle cells and heart muscle were strongly stained. Most squamous epithelial cells were negative.	http://www.proteinatlas.org/ENSG00000182022-CHST15/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 30.1	cytoplasm; centrosome	.	.
H	10	129231623	rs776099873	G	A	222	PASS	DOCK1	Dedicator of cytokinesis-1	exonic	NM_001290223,NM_001380	.	missense SNV	DOCK1:NM_001290223:exon48:c.G4991A:p.R1664H,DOCK1:NM_001380:exon48:c.G4928A:p.R1643H	ENST00000280333.9,ENST00000623213.1,ENSG00000150760.12	.	10q26.2	.	.	.	.	.	rs776099873	.	.	.	.	.	.	0.00005280	246228	0.00023191	17248	0.00077730	.	.	0.1708	.	0.037,D	0.996,D	1.0,D	1,D	0.000000,D	3.175,M	3.7,T	18.5284	2.605	9.249	6.756996,32	5.01	0.00462518300339	VDB=0.000100579;SGB=-0.693147;RPB=0.143557;MQB=7.68245e-17;MQSB=0.993366;BQB=0.801673;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=162;DP4=38,29,32,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:126:255,0,255:67,59	G	A	0	1	Dedicator of cytokinesis-1, 601403	.	.	.	12432077|8657152|12879077|17960134|19004829|9548247|8661160|9548255	GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_CELL_DEATH;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_FC_GAMMA_RECEPTOR_SIGNALING_PATHWAY;GO_PHAGOCYTOSIS_ENGULFMENT;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_WOUND_HEALING;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_MEMBRANE_ORGANIZATION;GO_MEMBRANE_INVAGINATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_INTEGRIN_MEDIATED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_ENDOCYTOSIS;GO_PHAGOCYTOSIS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_HEMOSTASIS;GO_IMMUNE_EFFECTOR_PROCESS	.	GO_SH3_DOMAIN_BINDING;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	KEGG_FOCAL_ADHESION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_NETRIN_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_TRKR_PATHWAY;PID_RAC1_REG_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_MET_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	Cytoplasmic expression in several cell types.	http://www.proteinatlas.org/ENSG00000150760-DOCK1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 27.2	nucleus	.	PM2
H	10	129906832	rs143952665	G	A	222	PASS	MKI67	Proliferation-related Ki-67 antigen	exonic	NM_001145966,NM_002417	.	missense SNV	MKI67:NM_001145966:exon12:c.C2192T:p.T731M,MKI67:NM_002417:exon13:c.C3272T:p.T1091M	ENST00000368654.7,ENST00000368653.7,ENSG00000148773.13	.	10q26.2	.	.	.	.	.	rs143952665	.	.	0.00166113	0.001	0.00199681	7.7e-05	0.00052315	277168	0.00037100	18868	.	.	.	.	.	0.007,D	0.999,D	1.0,D	1,N	.	2.11,M	4.02,T	4.8127	0.081	0.265	2.378466,18.68	.	0.00642244866726	VDB=0.990736;SGB=-0.693147;RPB=0.260943;MQB=2.74168e-27;MQSB=1;BQB=0.0845498;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=242;DP4=70,48,52,34;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:161:.:.	0/0:101:.:.	0/0:139:.:.	0/0:102:.:.	0/0:107:.:.	0/0:101:.:.	0/0:101:.:.	0/1:204:255,0,255:118,86	G	A	0	1	Proliferation-related Ki-67 antigen, 176741	.	.	.	1769665|21524841|8227122|2571566|23760480|9925911	GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_ORGAN_REGENERATION;GO_GLAND_MORPHOGENESIS;GO_RESPONSE_TO_HEAT;GO_REGENERATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_HYALURONAN_METABOLIC_PROCESS;GO_ORGANELLE_FISSION;GO_CELL_PROLIFERATION;GO_ORGAN_MORPHOGENESIS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_HEAT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_EPITHELIAL_CELL_PROLIFERATION;GO_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_CONDENSED_CHROMOSOME;GO_NUCLEOLUS	GO_PROTEIN_C_TERMINUS_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	Nuclear expression most abundant in germinal center cells and in a subset of cells in several tissues including squamous epithelia, cells in seminiferous ducts and the gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000148773-MKI67/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 14.1	nucleoli; nucleus	.	PM2
L-	10	135085441	rs375501347	G	A	222	PASS	ADAM8	A disintegrin and metalloprotease domain 8	exonic	NM_001109,NM_001164489,NM_001164490	.	synonymous SNV	ADAM8:NM_001164490:exon10:c.C858T:p.P286P,ADAM8:NM_001109:exon11:c.C975T:p.P325P,ADAM8:NM_001164489:exon11:c.C975T:p.P325P	ENST00000415217.7,ENSG00000151651.15,ENST00000561175.1,ENST00000485491.6,ENST00000445355.7,ENST00000537099.5	.	10q26.3	.	.	.	.	.	rs375501347	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.00025399	275602	0.00201849	18826	0.00077730	.	.	-0.0931	.	.	.	.	.	.	.	.	.	-0.028	-0.825	1.194529,11.72	.	.	VDB=0.771865;SGB=-0.693147;RPB=0.0149825;MQB=2.63457e-08;MQSB=0.400566;BQB=0.404264;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=239;DP4=64,35,53,25;MinDP=105;AN=18;AC=1	GT:DP:PL:AD	0/0:111:.:.	0/0:143:.:.	0/0:135:.:.	0/0:124:.:.	0/0:105:.:.	0/0:111:.:.	0/0:122:.:.	0/0:125:.:.	0/1:177:255,0,255:99,78	G	A	0	1	A disintegrin and metalloprotease domain 8, 602267	.	.	.	20453887|15580619|1982220|9126482	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_MATURATION;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_LEUKOCYTE_CHEMOTAXIS;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEUTROPHIL_MIGRATION;GO_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_THYMOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_BONE_REMODELING;GO_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TISSUE_REMODELING;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_MATURATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_LYMPHOCYTE_CHEMOTAXIS;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BONE_REMODELING;GO_REGULATION_OF_BONE_RESORPTION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_LYMPHOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_POSITIVE_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ANGIOGENESIS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_LEUKOCYTE_MIGRATION_INVOLVED_IN_INFLAMMATORY_RESPONSE;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_TISSUE_REMODELING;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_NEUTROPHIL_MIGRATION;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_LYMPHOCYTE_MIGRATION;GO_PROTEOLYSIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_T_CELL_MIGRATION	GO_PHAGOCYTIC_VESICLE;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_ACTIN_CYTOSKELETON;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPECIFIC_GRANULE;GO_INTRACELLULAR_VESICLE;GO_CELL_SURFACE;GO_SECRETORY_GRANULE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PODOSOME;GO_CYTOPLASMIC_VESICLE_PART;GO_LYTIC_VACUOLE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_DENSE_CORE_GRANULE	GO_PEPTIDASE_ACTIVITY;GO_PROTEIN_SELF_ASSOCIATION;GO_SERINE_HYDROLASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING	.	PID_INTEGRIN_A9B1_PATHWAY	.	.	Cytoplasmic expression in several tissues with additional expression in immune cells.	http://www.proteinatlas.org/ENSG00000151651-ADAM8/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	spleen: 20.9	.	.	BP7, PM2
L-	10	135086018	rs375343684	G	A	174	PASS	ADAM8	A disintegrin and metalloprotease domain 8	exonic	NM_001109,NM_001164489,NM_001164490	.	synonymous SNV	ADAM8:NM_001164490:exon8:c.C660T:p.H220H,ADAM8:NM_001109:exon9:c.C777T:p.H259H,ADAM8:NM_001164489:exon9:c.C777T:p.H259H	ENST00000415217.7,ENSG00000151651.15,ENST00000561175.1,ENST00000485491.6,ENST00000445355.7,ENST00000560135.5,ENST00000537099.5	.	10q26.3	.	.	Score=824;Name=V$GRE_C	.	.	rs375343684	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.00015942	275998	0.00201570	18852	0.00116777	0.00088496	.	-0.0310	.	.	.	.	.	.	.	.	.	-1.778	-3.273	.	.	.	VDB=0.0383141;SGB=-0.692831;RPB=0.993236;MQB=4.78406e-08;BQB=0.990804;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=70;DP4=26,0,24,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:50:207,0,231:26,24	G	A	0	1	A disintegrin and metalloprotease domain 8, 602267	.	.	.	20453887|15580619|1982220|9126482	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_MATURATION;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_LEUKOCYTE_CHEMOTAXIS;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEUTROPHIL_MIGRATION;GO_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_THYMOCYTE_AGGREGATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_THYMOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CELLULAR_EXTRAVASATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_BONE_REMODELING;GO_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TISSUE_REMODELING;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_MATURATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_LYMPHOCYTE_CHEMOTAXIS;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BONE_REMODELING;GO_REGULATION_OF_BONE_RESORPTION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_LYMPHOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_POSITIVE_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ANGIOGENESIS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_LEUKOCYTE_MIGRATION_INVOLVED_IN_INFLAMMATORY_RESPONSE;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_TISSUE_REMODELING;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_NEUTROPHIL_MIGRATION;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_LYMPHOCYTE_MIGRATION;GO_PROTEOLYSIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_T_CELL_MIGRATION	GO_PHAGOCYTIC_VESICLE;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_ACTIN_CYTOSKELETON;GO_VACUOLE;GO_SECRETORY_VESICLE;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPECIFIC_GRANULE;GO_INTRACELLULAR_VESICLE;GO_CELL_SURFACE;GO_SECRETORY_GRANULE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PODOSOME;GO_CYTOPLASMIC_VESICLE_PART;GO_LYTIC_VACUOLE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_DENSE_CORE_GRANULE	GO_PEPTIDASE_ACTIVITY;GO_PROTEIN_SELF_ASSOCIATION;GO_SERINE_HYDROLASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING	.	PID_INTEGRIN_A9B1_PATHWAY	.	.	Cytoplasmic expression in several tissues with additional expression in immune cells.	http://www.proteinatlas.org/ENSG00000151651-ADAM8/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	spleen: 20.9	.	.	BP7, PM2
H	11	193703	rs202040177	G	A	53	PASS	SCGB1C2,SCGB1C1	Secretoglobin, family 1C, member 1	splicing	NM_001097610,NM_145651	NM_001097610:exon2:c.56-9G>A;NM_145651:exon2:c.56-9G>A	.	.	ENST00000595228.3,ENSG00000188076.2,ENSG00000268320.3,ENSG00000177951.17,ENST00000342878.2,ENST00000410108.5	.	11p15.5	.	.	.	.	.	rs202040177	.	.	0.0116279	0.0119	0.00339457	0.0004	0.00146124	274424	0.01463206	18726	0.01578947	0.01766784	0.0001,0.008	-4.2442	.	.	.	.	.	.	.	.	.	-2.738	-2.078	.	.	.	VDB=0.862072;SGB=-0.662043;RPB=0.372207;MQB=0.0453399;MQSB=0.579578;BQB=0.973938;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=53;DP4=36,2,8,1;MinDP=25;AN=18;AC=1	GT:DP:PL:AD	0/0:34:.:.	0/0:40:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:34:.:.	0/0:25:.:.	0/0:36:.:.	0/1:47:88,0,228:38,9	G	A	0	1	Secretoglobin, family 1C, member 1, 610176	.	.	.	1915264|22155607|12406855	.	.	.	.	.	.	.	.	.	.	.	.	.	.
H	11	209897	.	C	CA	50	PASS	RIC8A	Ric8, C. elegans, homolog of, A	exonic	NM_001286134,NM_021932	.	frameshift insertion	RIC8A:NM_001286134:exon3:c.623_624insA:p.P208fs,RIC8A:NM_021932:exon3:c.623_624insA:p.P208fs	ENST00000527728.1,ENST00000526104.5,ENSG00000177963.14,ENST00000526982.1,ENST00000527039.1,ENST00000325207.9,ENST00000527696.5	.	11p15.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29531568	0.04242424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.799073;SGB=-0.616816;MQSB=1;MQ0F=0;MQ=50;DP=9;DP4=0,0,4,2;IDV=2;IMF=0.0217391;MinDP=30;AN=12;AC=2	GT:DP:PL:AD	./.:.:.:.	0/0:30:.:.	0/0:39:.:.	./.:.:.:.	0/0:32:.:.	0/0:37:.:.	./.:.:.:.	0/0:37:.:.	1/1:6:80,18,0:0,6	C	CA	1	0	Ric8, C. elegans, homolog of, A, 609146	.	.	.	15479639|12509430	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ASSOCIATIVE_LEARNING;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_EMBRYO_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_LEARNING;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CELL_MIGRATION_INVOLVED_IN_GASTRULATION;GO_GASTRULATION;GO_RESPONSE_TO_RADIATION;GO_LOCOMOTION;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ADENYLATE_CYCLASE_INHIBITING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_VISUAL_BEHAVIOR;GO_BASEMENT_MEMBRANE_ORGANIZATION;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BEHAVIOR;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_BIOLOGICAL_ADHESION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	.	GO_G_PROTEIN_ALPHA_SUBUNIT_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	.	Ubiquitous granulated cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000177963-RIC8A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 48.8	cytoplasm	.	BS1
L-	11	224204	rs12223279	C	T	222	PASS	SIRT3	Sirtuin, S. cerevisiae, homolog 3	exonic	NM_001017524,NM_012239	.	synonymous SNV	SIRT3:NM_001017524:exon5:c.G417A:p.P139P,SIRT3:NM_012239:exon5:c.G843A:p.P281P	ENST00000525319.5,ENST00000532956.5,ENST00000524564.5,ENST00000532837.5,ENST00000531753.5,ENSG00000142082.14,ENST00000529382.5,ENST00000529937.1,ENST00000526854.5,ENST00000382743.8	.	11p15.5	.	.	.	.	.	rs12223279	.	.	0.0299003	0.0268	0.00579073	.	0.00133705	276728	0.01744248	18862	0.01593471	0.01848592	.	-2.3775	.	.	.	.	.	.	.	.	.	-3.844	-3.317	0.926972,10.24	.	.	VDB=0.0352702;SGB=-0.693136;RPB=0.459246;MQB=3.07763e-12;MQSB=0.964815;BQB=0.71649;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=109;DP4=18,31,17,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:49,35	C	T	0	1	Sirtuin, S. cerevisiae, homolog 3, 604481	.	.	.	18794531|15676284|10381378|20203611|17923681|12374852|17437997|12186850|6098447|21094524|10619427	GO_CHROMOSOME_ORGANIZATION;GO_MACROMOLECULE_DEACYLATION;GO_AEROBIC_RESPIRATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CELLULAR_RESPIRATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_CHROMATIN_MODIFICATION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_COVALENT_CHROMATIN_MODIFICATION;GO_PROTEIN_ADP_RIBOSYLATION;GO_CHROMATIN_ORGANIZATION;GO_OXIDATION_REDUCTION_PROCESS;GO_REGULATION_OF_PROTEIN_ACETYLATION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_ACETYLATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_GLYCOSYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_HISTONE_H3_DEACETYLATION	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_NAD_ADP_RIBOSYLTRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_NAD_BINDING;GO_NAD_DEPENDENT_PROTEIN_DEACETYLASE_ACTIVITY;GO_COFACTOR_BINDING;GO_ZINC_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_HISTONE_DEACETYLASE_ACTIVITY_H3_K14_SPECIFIC_;GO_OXIDIZED_NAD_BINDING;GO_COENZYME_BINDING	.	PID_HDAC_CLASSIII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	.	.	Cytoplasmic expression in all tissues.	http://www.proteinatlas.org/ENSG00000142082-SIRT3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 15.1	.	.	BP7
L	11	499071	rs369312738	G	A	222	PASS	RNH1	Ribonuclease/angiogenin inhibitor 1	exonic	NM_002939,NM_203383,NM_203384,NM_203385,NM_203386,NM_203387,NM_203388,NM_203389	.	synonymous SNV	RNH1:NM_203384:exon5:c.C558T:p.G186G,RNH1:NM_203385:exon5:c.C558T:p.G186G,RNH1:NM_203388:exon5:c.C558T:p.G186G,RNH1:NM_203389:exon5:c.C558T:p.G186G,RNH1:NM_002939:exon6:c.C558T:p.G186G,RNH1:NM_203383:exon6:c.C558T:p.G186G,RNH1:NM_203386:exon6:c.C558T:p.G186G,RNH1:NM_203387:exon6:c.C558T:p.G186G	ENST00000524464.5,ENST00000533410.5,ENST00000525522.5,ENST00000529368.5,ENST00000529115.5,ENST00000397604.7,ENST00000397615.6,ENST00000534797.5,ENST00000529306.5,ENST00000438658.6,ENSG00000023191.16,ENST00000354420.6,ENST00000356187.9,ENST00000525701.5,ENST00000527485.5,ENST00000397614.5	.	11p15.5	.	.	.	.	.	rs369312738	.	.	0	0.001	0.000199681	.	0.00015182	276646	0.00206787	18860	0.00116595	0.00265957	.	-0.1965	.	.	.	.	.	.	.	.	.	-0.202	-0.966	0.940461,10.32	.	.	VDB=0.000855388;SGB=-0.693147;RPB=0.899601;MQB=1.14658e-16;MQSB=0.900383;BQB=0.869814;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=475;DP4=105,76,89,84;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:104:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:150:255,0,255:84,66	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:204:255,0,255:97,107	G	A	0	2	Ribonuclease/angiogenin inhibitor 1, 173320	.	.	.	21276451|22162762|3219362|15277533|17292889|2276743|23624614|2081593	GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	.	GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	.	Cytoplasmic expression in most tissues which in some tissues  was combined with nuclear expression.	http://www.proteinatlas.org/ENSG00000023191-RNH1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 87.6	nucleus but not nucleoli; cytoplasm	.	BP7, PM2
H	11	587372	rs151190592	A	G	222	PASS	PHRF1	PHD and RING finger domain-containing protein 1	exonic	NM_001286581,NM_001286582,NM_001286583,NM_020901	.	missense SNV	PHRF1:NM_001286581:exon4:c.A328G:p.I110V,PHRF1:NM_001286582:exon4:c.A325G:p.I109V,PHRF1:NM_001286583:exon4:c.A316G:p.I106V,PHRF1:NM_020901:exon4:c.A328G:p.I110V	ENST00000416188.2,ENST00000533464.5,ENST00000264555.9,ENST00000413872.6,ENST00000534320.5,ENSG00000070047.11	.	11p15.5	.	.	.	.	.	rs151190592	.	.	0.0149502	0.0169	0.00359425	.	0.00104258	277196	0.01393747	18870	0.01049359	0.00880282	.	-0.0358	Zinc finger, RING-type;Zinc finger, RING/FYVE/PHD-type	0.013,D	0.997,D	0.999,D	0.999975,D	0.002078,N	2.005,M	-1.07,T	13.3444	1.792	8.885	3.941319,23.5	4.81	.	VDB=0.551312;SGB=-0.692914;RPB=0.338707;MQB=1.03418e-09;MQSB=0.995903;BQB=0.971324;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=180;DP4=48,17,44,22;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:57:255,0,255:32,25	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:33,41	A	G	0	2	PHD and RING finger domain-containing protein 1, 611780	.	.	.	10819331	GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_MRNA_METABOLIC_PROCESS	.	GO_RNA_POLYMERASE_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	Cytoplasmic and nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000070047-PHRF1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 11.6	nucleus	.	PM1, PP3
L	11	617489	rs773980723	C	T	222	PASS	CDHR5	Cadherin-related family, member 5	exonic	NM_001171968,NM_021924,NM_031264	.	synonymous SNV	CDHR5:NM_031264:exon14:c.G1818A:p.E606E,CDHR5:NM_001171968:exon15:c.G2382A:p.E794E,CDHR5:NM_021924:exon15:c.G2400A:p.E800E	ENST00000531177.5,ENST00000349570.11,ENST00000358353.7,ENST00000397542.6,ENSG00000099834.18	CpG: 54	11p15.5	.	.	.	.	.	rs773980723	.	.	.	.	.	.	0.00000820	243902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.926	0.500	.	3.95	.	VDB=0.292878;SGB=-0.693147;RPB=0.999993;MQB=1.2355e-13;MQSB=0.97129;BQB=0.185047;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=141;DP4=28,16,32,21;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:107:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:75:.:.	0/0:100:.:.	0/1:97:255,0,255:44,52	C	T	0	1	Cadherin-related family, member 5, 606839	.	.	.	11031102	GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_CELL_CELL_ADHESION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_MICROVILLUS_ORGANIZATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_REGULATION_OF_CELL_PROJECTION_SIZE;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	GO_COATED_PIT;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_MICROVILLUS;GO_BRUSH_BORDER;GO_MICROVILLUS_MEMBRANE;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_MEMBRANE_REGION;GO_BRUSH_BORDER_MEMBRANE	GO_BETA_CATENIN_BINDING;GO_CALCIUM_ION_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING	.	.	.	.	Selective expression in luminal membranes of intestine, gallbladder, renal tubules and epididymis.	http://www.proteinatlas.org/ENSG00000099834-CDHR5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	rectum: 111.3	.	.	PM2
L	11	674638	rs35303725	C	T	222	PASS	DEAF1	Deaf1, Drosophila, homolog of	exonic	NM_001293634,NM_021008	.	synonymous SNV	DEAF1:NM_001293634:exon8:c.G1134A:p.A378A,DEAF1:NM_021008:exon10:c.G1401A:p.A467A	ENST00000382409.3,ENST00000525904.5,ENST00000527170.5,ENSG00000177030.16,ENST00000530813.1,ENSG00000255158.1,ENST00000526790.1,ENST00000527799.1	.	11p15.5	.	.	.	.	.	rs35303725	.	.	0.0182724	0.0198	0.0205671	0.0120	0.01958415	277214	0.01515633	18870	0.01165954	0.00352734	.	-0.0335	.	.	.	.	.	.	.	.	.	-1.529	-3.889	1.251523,12.02	.	.	VDB=0.00115664;SGB=-0.693147;RPB=0.737735;MQB=2.56228e-14;MQSB=0.861467;BQB=0.995669;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=159;DP4=44,19,42,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:51:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:119:255,0,255:63,56	C	T	0	1	?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3), Autosomal recessive; Mental retardation, autosomal dominant 24, 615828 (3), Autosomal dominant	.	.	.	24668509|15161925|22442688|9417089|23846693|26048982|23020937|21076407|24726472	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MAMMARY_GLAND_EPITHELIAL_CELL_PROLIFERATION;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_ASSOCIATIVE_LEARNING;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EMBRYO_DEVELOPMENT;GO_SEXUAL_REPRODUCTION;GO_FEAR_RESPONSE;GO_LEARNING;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_RESPONSE_TO_RADIATION;GO_TUBE_DEVELOPMENT;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_TUBE_FORMATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_VISUAL_BEHAVIOR;GO_TUBE_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BEHAVIOR;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEOLUS	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Nuclear and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000177030-DEAF1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 27.0	nucleus; nucleoli	.	BP7
H	11	823799	rs200088893	C	G	222	PASS	PNPLA2	Patatin-like phospholipase domain-containing protein 2	exonic	NM_020376	.	missense SNV	PNPLA2:NM_020376:exon7:c.C863G:p.S288W	ENST00000525250.5,ENST00000529255.1,ENSG00000177666.16,ENST00000336615.8,ENST00000526083.1,ENST00000528982.1,ENSG00000255108.1,ENST00000532946.1	CpG: 108	11p15.5	.	.	.	.	.	rs200088893	.	.	0.0166113	0.0119	0.00239617	7.7e-05	0.00128631	254216	0.01796640	17978	0.00971628	0.01504425	.	-0.3538	Acyl transferase/acyl hydrolase/lysophospholipase	0.024,D	0.652,P	0.993,D	1,N	0.159655,N	0.345,N	-1.02,T	3.9069	-0.646	-0.972	3.384414,23.0	.	.	VDB=0.125578;SGB=-0.693146;RPB=0.431708;MQB=2.84535e-16;MQSB=0.999749;BQB=0.976081;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=117;DP4=23,44,11,33;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:58:.:.	0/0:100:.:.	0/0:100:.:.	0/0:105:.:.	0/0:100:.:.	0/0:52:.:.	0/0:97:.:.	0/0:50:.:.	0/1:111:255,0,255:67,44	C	G	0	1	Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive	.	.	.	17657808|21680814|17187067|21857651|15364929|22832386|21544567|15337759|21393244|15550674	GO_REGULATION_OF_LIPID_STORAGE;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_SEQUESTERING_OF_TRIGLYCERIDE;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_MAINTENANCE_OF_LOCATION;GO_REGULATION_OF_TRIGLYCERIDE_CATABOLIC_PROCESS;GO_NEUTRAL_LIPID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_LIPID_PARTICLE_ORGANIZATION;GO_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LIPID_CATABOLIC_PROCESS;GO_TRIGLYCERIDE_CATABOLIC_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_LIPID_STORAGE;GO_LIPID_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_LIPID_STORAGE;GO_REGULATION_OF_LIPID_CATABOLIC_PROCESS;GO_LIPID_LOCALIZATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS	GO_LIPID_PARTICLE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_ACYLGLYCEROL_O_ACYLTRANSFERASE_ACTIVITY;GO_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_O_ACYLTRANSFERASE_ACTIVITY;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY	.	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	.	http://www.proteinatlas.org/ENSG00000177666-PNPLA2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 25.0	vesicles; nucleus but not nucleoli	.	PM1
L	11	1093204	rs56299570	C	A	39.2044	PASS	MUC2	Mucin 2, intestinal/tracheal	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon31:c.C5023A:p.P1675T	ENST00000359061.5,ENSG00000198788.7,ENST00000441003.2,ENST00000361558.6	.	11p15.5	.	.	.	.	Score=327;Name="672030:(CCA)n(Simple_repeat)"	rs56299570	.	.	.	.	.	.	0.00005309	113010	.	.	0.06161417	0.00242718	.	.	.	0.0,D	0.0,B	0.0,B	1,N	0.662513,U	.	3.02,T	6.9769	-1.450	-3.268	.	.	0.0542855850647	VDB=0.00136225;SGB=-0.662043;RPB=0.00456134;MQB=0.0497249;MQSB=0.0659572;BQB=0.973145;MQ0F=0;ICB=1;HOB=0.5;MQ=32;DP=57;DP4=25,5,4,5;MinDP=27;AN=18;AC=1	GT:DP:PL:AD	0/0:33:.:.	0/0:38:.:.	0/0:43:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:27:.:.	0/1:39:74,0,254:30,9	C	A	0	1	Mucin 2, intestinal/tracheal, 158370	.	.	.	9722984|1980995|2703501|1985113|16754877|17058067|2265829|8975711|15081123|24072822|7864825|10636731|1885763|11872843	GO_DIGESTION;GO_HOMEOSTATIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	.
L	11	1094735	rs369131915	C	T	222	PASS	MUC2	Mucin 2, intestinal/tracheal	exonic	NM_002457	.	synonymous SNV	MUC2:NM_002457:exon32:c.C5823T:p.T1941T	ENST00000333592.6,ENSG00000198788.7,ENST00000441003.2,ENST00000361558.6	.	11p15.5	.	.	.	.	.	rs369131915	.	.	0.00332226	0.004	0.000798722	.	0.00019537	276400	0.00259864	18856	0.00116595	0.00088652	.	-0.4351	.	.	.	.	.	.	.	.	.	0.455	0.040	.	.	.	VDB=0.000392229;SGB=-0.693147;RPB=0.90896;MQB=0.000116865;MQSB=0.929491;BQB=0.301881;MQ0F=0;ICB=1;HOB=0.5;MQ=38;DP=154;DP4=46,11,37,14;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:102:.:.	0/0:61:.:.	0/0:101:.:.	0/0:52:.:.	0/0:56:.:.	0/0:60:.:.	0/0:64:.:.	0/1:108:255,0,255:57,51	C	T	0	1	Mucin 2, intestinal/tracheal, 158370	.	.	.	9722984|1980995|2703501|1985113|16754877|17058067|2265829|8975711|15081123|24072822|7864825|10636731|1885763|11872843	GO_DIGESTION;GO_HOMEOSTATIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM;GO_DIGESTIVE_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_EPITHELIAL_STRUCTURE_MAINTENANCE;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	BP7, PM2
H	11	1155657	rs192181365	C	T	222	PASS	MUC5AC	Mucin 5, subtypes A and C, tracheobronchial/gastric	exonic	NM_001304359	.	unknown	UNKNOWN	ENSG00000215182.6,ENST00000356191.2,ENST00000534821.1	CpG: 34	11p15.5	.	.	.	.	.	rs192181365	.	.	0.00830565	0.0089	0.00179712	.	0.00032679	275404	0.00292367	18812	0.00174893	0.00352734	.	.	.	.	.	.	.	.	.	.	.	-0.802	-2.144	.	.	.	VDB=0.0152392;SGB=-0.693147;RPB=0.87994;MQB=3.51438e-18;MQSB=0.301352;BQB=0.846844;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=227;DP4=62,25,51,26;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:164:255,0,255:87,77	C	T	0	1	Mucin 5, subtypes A and C, tracheobronchial/gastric, 158373	.	.	.	7826332|21502330|24975020|17058067|2265829|7649560|9536947|24317696|16647036|7864825	GO_HOMEOSTATIC_PROCESS;GO_TISSUE_HOMEOSTASIS;GO_FIBRIL_ORGANIZATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_EXTRACELLULAR_FIBRIL_ORGANIZATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_GOLGI_APPARATUS_PART;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_EXTRACELLULAR_SPACE;GO_FIBRIL;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Selective expression in mucus-producing cells.	http://www.proteinatlas.org/ENSG00000215182-MUC5AC/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	gallbladder: 2.6	vesicles	.	BS2
L	11	1272038	rs201521453	C	T	222	PASS	MUC5B	Mucin 5, subtype B, tracheobronchial	exonic	NM_002458	.	missense SNV	MUC5B:NM_002458:exon31:c.C13928T:p.P4643L	ENSG00000117983.17,ENST00000529681.5	.	11p15.5	.	.	.	.	Score=207;Name="672162:(CCA)n(Simple_repeat)"	rs201521453	.	.	0.00166113	0.005	0.000998403	0.0002	0.00051582	275288	0.00175141	18842	0.00097201	.	.	.	.	0.752,T	0.017,B	0.596,P	1,N	.	1.935,L	2.13,T	3.8951	-0.158	-1.242	.	.	0.00225618016159	VDB=0.108537;SGB=-0.693144;RPB=0.994325;MQB=5.51091e-10;MQSB=0.774707;BQB=0.515344;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=129;DP4=35,23,22,17;MinDP=74;AN=18;AC=1	GT:DP:PL:AD	0/0:74:.:.	0/0:110:.:.	0/0:100:.:.	0/0:131:.:.	0/0:92:.:.	0/0:111:.:.	0/0:104:.:.	0/0:100:.:.	0/1:97:255,0,255:58,39	C	T	0	1	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant	.	.	.	9201995|9804771|9013550|11158014|23692170|9164870|17058067|7649560|24317696|21506741|8554565|21506748	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_MACROPHAGE_ACTIVATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Selective expression in mucus producing cells.	http://www.proteinatlas.org/ENSG00000117983-MUC5B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	colon: 23.9	vesicles	.	.
H	11	1272527	rs202131299	C	T	222	PASS	MUC5B	Mucin 5, subtype B, tracheobronchial	exonic	NM_002458	.	missense SNV	MUC5B:NM_002458:exon31:c.C14417T:p.T4806M	ENSG00000117983.17,ENST00000529681.5	.	11p15.5	.	.	.	.	.	rs202131299	.	.	0.0166113	0.0119	0.00279553	0.0005	0.00210096	276540	0.02496025	18870	0.01866252	0.01760563	.	.	.	0.0,D	0.01,B	0.063,B	1,N	.	0.755,N	1.55,T	7.696	-2.403	-1.313	.	.	.	VDB=0.000401257;SGB=-0.693147;RPB=0.945261;MQB=1.58706e-30;MQSB=0.924818;BQB=0.998832;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=316;DP4=58,64,65,50;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:123:.:.	0/0:160:.:.	0/0:100:.:.	0/0:187:.:.	0/0:100:.:.	0/0:133:.:.	0/0:129:.:.	0/0:140:.:.	0/1:237:255,0,255:122,115	C	T	0	1	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant	.	.	.	9201995|9804771|9013550|11158014|23692170|9164870|17058067|7649560|24317696|21506741|8554565|21506748	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_MACROPHAGE_ACTIVATION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Selective expression in mucus producing cells.	http://www.proteinatlas.org/ENSG00000117983-MUC5B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	colon: 23.9	vesicles	.	BP4
H	11	1605968	.	C	G	57	PASS	KRTAP5-1	Keratin associated protein 5-1	exonic	NM_001005922	.	missense SNV	KRTAP5-1:NM_001005922:exon1:c.G512C:p.G171A	ENST00000524947.1,ENST00000532922.1,ENST00000534077.1,ENSG00000233930.3,ENST00000382171.2,ENSG00000205869.2,ENST00000424148.1	.	11p15.5	.	.	.	.	.	.	.	.	.	.	.	.	0.00000365	274290	.	.	0.00027762	.	.	.	.	0.0,D	0.133,B	0.546,P	0.987295,N	.	2.39,M	3.58,T	11.367	1.185	0.248	.	2.91	0.00335792302455	VDB=1.51165e-05;SGB=-0.670168;RPB=5.54516e-05;MQB=0.100913;MQSB=0.883905;BQB=0.999587;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=47;DP4=17,16,0,10;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:38:.:.	0/0:50:.:.	0/0:59:.:.	0/0:51:.:.	0/0:32:.:.	0/0:31:.:.	0/0:32:.:.	0/0:38:.:.	0/1:43:91,0,255:33,10	C	G	0	1	Keratin associated protein 5-1, 148022	.	.	.	1724400	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000205869-KRTAP5-1/tissue	FPKM<0.5 in all tissues <Not detected>	spleen: 0.2	.	.	PM2
H	11	3661583	.	G	GGAT	228	PASS	ART5	ADP-ribosyltransferase 5	exonic	NM_001079536,NM_001297668,NM_053017	.	nonframeshift insertion	ART5:NM_001297668:exon2:c.75_76insATC:p.L26delinsIL,ART5:NM_053017:exon2:c.75_76insATC:p.L26delinsIL,ART5:NM_001079536:exon3:c.75_76insATC:p.L26delinsIL	ENSG00000167311.13,ENST00000425767.2,ENST00000397067.7,ENST00000397068.7,ENST00000359918.8	.	11p15.4	.	.	Score=823;Name=V$HNF4_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02188355	0.00176367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=4.74631e-08;SGB=-0.693147;MQSB=0.931179;MQ0F=0;MQ=48;DP=424;DP4=3,9,134,132;IDV=3;IMF=0.0144928;MinDP=100;AN=18;AC=4	GT:DP:PL:AD	0/0:100:.:.	0/0:145:.:.	0/0:138:.:.	0/0:133:.:.	1/1:128:255,222,0:7,121	0/0:105:.:.	0/0:102:.:.	0/0:116:.:.	1/1:150:255,255,0:5,145	G	GGAT	2	0	ADP-ribosyltransferase 5, 610625	.	.	.	11587854|12070318	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_PROTEIN_ADP_RIBOSYLATION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_NAD_ADP_RIBOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS	.	.	.	.	Cytoplasmic expression in a subset of tissues including smooth and heart muscle. Membranous expression observed in squamous epithelia.	http://www.proteinatlas.org/ENSG00000167311-ART5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skeletal muscle: 2.9	.	.	PM4
L	11	3681054	rs2280133	G	A	222	PASS	ART1	ADP-ribosyltransferase 1	exonic	NM_004314	.	missense SNV	ART1:NM_004314:exon3:c.G305A:p.R102H	ENST00000250693.1,ENSG00000129744.2	.	11p15.4	.	.	.	.	.	rs2280133	.	.	0.0398671	0.0387	0.0113818	0.0128	0.01405749	273164	0.03964290	18818	0.05207928	0.04850088	.	-0.4423	.	0.055,T	0.708,P	0.956,P	1,N	0.732645,N	1.98,M	3.01,T	3.1474	0.100	-2.567	.	.	.	VDB=0.976012;SGB=-0.693147;RPB=0.642354;MQB=1.72991e-37;MQSB=0.998131;BQB=0.647314;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=389;DP4=100,37,114,44;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:295:255,0,255:137,158	G	A	0	1	ADP-ribosyltransferase 1, 601625	.	.	.	12070318|7966280|8288246|8812442|7947688|1671854	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_PROTEIN_ADP_RIBOSYLATION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_SARCOPLASMIC_RETICULUM_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_CELL_SURFACE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_SARCOPLASM;GO_ENDOPLASMIC_RETICULUM;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_NAD_ADP_RIBOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS	.	.	.	REACTOME_DEFENSINS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	RNA data suggests expression in skeletal muscle. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000129744-ART1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 0.4	.	.	BS1
L	11	5020933	rs61729748	A	T	222	PASS	OR51L1	.	exonic	NM_001004755	.	missense SNV	OR51L1:NM_001004755:exon1:c.A721T:p.N241Y	ENSG00000176798.1,ENST00000321543.1	.	11p15.4	.	.	Score=886;Name=V$E47_02	.	.	rs61729748	.	.	0.0232558	0.0228	0.0289537	0.0186	0.03380332	276748	0.02105877	18852	0.01632336	0.02112676	.	.	GPCR, rhodopsin-like, 7TM	0.0,D	0.999,D	1.0,D	0.992715,N	0.000301,D	2.6,M	8.7,T	14.4424	2.277	0.750	4.722281,24.6	5.43	.	VDB=0.120125;SGB=-0.692914;RPB=0.768195;MQB=7.24212e-07;MQSB=0.96132;BQB=0.857779;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=118;DP4=34,12,30,13;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:44:.:.	0/0:50:.:.	0/1:43:255,0,255:18,25	0/0:39:.:.	0/0:30:.:.	0/0:31:.:.	0/1:46:255,0,255:28,18	A	T	0	2	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000176798-OR51L1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BS1, PM1
H	11	5344848	rs761315295	G	A	181	PASS	OR51B2	.	exonic	NM_033180	.	missense SNV	OR51B2:NM_033180:exon1:c.C680T:p.A227V	ENSG00000167355.7,ENST00000380252.5,ENST00000396895.1,ENST00000624187.1,ENST00000380237.5,ENST00000420465.5,ENST00000380259.6,ENSG00000279012.2,ENSG00000196565.13,ENSG00000213931.5	.	11p15.4	.	.	.	.	.	rs761315295	.	.	.	.	.	.	0.00003982	276220	0.00058380	18842	0.00038865	.	.	.	GPCR, rhodopsin-like, 7TM	0.004,D	0.344,B	0.432,B	0.995304,D	0.167307,U	2.605,M	1.12,T	15.6201	2.246	2.538	4.799117,24.8	4.27	0.012893421045	VDB=0.0230583;SGB=-0.692067;RPB=0.79262;MQB=6.2898e-06;MQSB=0.924059;BQB=0.752103;MQ0F=0;ICB=1;HOB=0.5;MQ=33;DP=62;DP4=15,8,11,9;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:33:.:.	0/0:33:.:.	0/0:50:.:.	0/0:37:.:.	0/0:32:.:.	0/0:32:.:.	0/0:37:.:.	0/1:43:214,0,255:23,20	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000184881-OR51B2/tissue	.	.	.	.	PM1, PM2
M	11	5510460	rs142777568	G	A	222	PASS	OR52D1	.	exonic	NM_001005163	.	missense SNV	OR52D1:NM_001005163:exon1:c.G524A:p.R175H	ENST00000418729.1,ENST00000415970.5,ENSG00000167355.7,ENST00000380252.5,ENST00000396895.1,ENST00000322641.5,ENSG00000181609.5,ENST00000380237.5,ENST00000420465.5,ENST00000380259.6,ENSG00000196565.13,ENSG00000213931.5,ENST00000420726.5	.	11p15.4	.	.	.	.	.	rs142777568	.	.	.	.	.	7.7e-05	0.00008325	276274	0.00053034	18856	0.00097163	.	.	.	GPCR, rhodopsin-like, 7TM	0.724,T	0.003,B	0.001,B	1,N	0.502742,N	0.34,N	8.72,T	21.5206	-2.215	-3.243	.	.	0.00326916203679	VDB=0.230908;SGB=-0.693147;RPB=0.929096;MQB=2.24929e-07;MQSB=0.717316;BQB=0.569463;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=127;DP4=29,20,32,14;MinDP=41;AN=18;AC=1	GT:DP:PL:AD	0/0:41:.:.	0/0:100:.:.	0/0:77:.:.	0/0:86:.:.	0/0:57:.:.	0/0:66:.:.	0/0:64:.:.	0/0:61:.:.	0/1:95:255,0,255:49,46	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000181609-OR52D1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM1, PM2
H	11	6644437	rs568029252	C	T	222	PASS	DCHS1	Dachsous, Drosophila, homolog of, 1	exonic	NM_003737	.	missense SNV	DCHS1:NM_003737:exon21:c.G8470A:p.E2824K	ENST00000299441.4,ENSG00000166341.7	.	11p15.4	.	.	Score=857;Name=V$HMX1_01	.	.	rs568029252	.	.	0.00166113	0.001	0.000199681	.	0.00005385	222830	0.00050138	15956	0.00019433	.	.	.	Cadherin;Cadherin-like	0.023,D	0.833,P	0.999,D	1,D	0.001119,N	3.705,H	-0.28,T	16.9706	2.587	5.894	6.622327,32	4.97	0.0814889952006	VDB=0.0255198;SGB=-0.693147;RPB=0.978723;MQB=2.84319e-15;MQSB=0.999538;BQB=0.985319;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=156;DP4=28,33,37,25;MinDP=66;AN=18;AC=1	GT:DP:PL:AD	0/0:66:.:.	0/0:101:.:.	0/0:100:.:.	0/0:108:.:.	0/0:66:.:.	0/0:92:.:.	0/0:91:.:.	0/0:100:.:.	0/1:123:255,0,255:61,62	C	T	0	1	Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive	.	.	.	20448179|24056717|26258302|12707861|20448178|22473091|9199196	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_MIGRATION_INVOLVED_IN_HEART_DEVELOPMENT;GO_ENDOCARDIAL_CUSHION_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_HIPPO_SIGNALING;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_ENDOCARDIAL_CUSHION_MORPHOGENESIS;GO_ORGAN_MATURATION;GO_CALCIUM_DEPENDENT_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_ENDOCARDIAL_CUSHION_FORMATION;GO_CELL_MOTILITY;GO_CELL_CELL_ADHESION;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_MATURATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_BONE_DEVELOPMENT;GO_EAR_DEVELOPMENT;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_HEART_MORPHOGENESIS;GO_RENAL_TUBULE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_BRANCHING_INVOLVED_IN_URETERIC_BUD_MORPHOGENESIS;GO_HEART_VALVE_FORMATION;GO_MESONEPHRIC_TUBULE_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_OSSIFICATION;GO_HETEROPHILIC_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_CELL_ADHESION_MOLECULES;GO_HEART_VALVE_DEVELOPMENT;GO_COCHLEA_DEVELOPMENT;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_MESENCHYME_DEVELOPMENT;GO_TUBE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_KIDNEY_MORPHOGENESIS;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_ATRIOVENTRICULAR_VALVE_DEVELOPMENT;GO_POST_ANAL_TAIL_MORPHOGENESIS;GO_NEPHRON_DEVELOPMENT;GO_MESENCHYME_MORPHOGENESIS;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_ATRIOVENTRICULAR_VALVE_MORPHOGENESIS;GO_MESONEPHROS_DEVELOPMENT;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_MATURATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_BONE_MATURATION	GO_APICAL_PART_OF_CELL	GO_CALCIUM_ION_BINDING	.	.	.	.	Cytoplasmic expression of varying intensity in most tissues.	http://www.proteinatlas.org/ENSG00000166341-DCHS1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	endometrium: 15.9	.	.	PM1, PM2, PP3
L	11	6806781	rs201093839	C	A	222	PASS	OR2AG1	.	exonic	NM_001004489	.	synonymous SNV	OR2AG1:NM_001004489:exon1:c.C513A:p.A171A	ENSG00000279486.4,ENST00000307401.5	.	11p15.4	.	.	.	.	.	rs201093839	.	.	0.00332226	0.002	0.000399361	.	0.00025632	277002	0.00376378	18864	0.00272056	0.00088028	.	.	.	.	.	.	.	.	.	.	.	0.169	-0.908	.	.	.	VDB=0.390925;SGB=-0.693147;RPB=0.770639;MQB=0.0243708;MQSB=0.516769;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=157;DP4=42,24,39,17;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:122:255,0,255:66,56	C	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000170803-OR2AG1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP7, PM2
H	11	6942458	rs545852106	T	G	222	PASS	OR2D3	.	exonic	NM_001004684	.	missense SNV	OR2D3:NM_001004684:exon1:c.T226G:p.Y76D	ENST00000317834.4,ENST00000637205.1,ENSG00000178358.4,ENSG00000283415.1	.	11p15.4	.	.	.	.	.	rs545852106	.	.	0.00166113	0.001	0.000199681	.	0.00003655	246206	0.00046388	17246	0.00019433	.	.	.	GPCR, rhodopsin-like, 7TM	0.0,D	0.977,D	0.999,D	0.991277,D	0.022630,N	3.9,H	2.74,T	13.1209	2.265	7.752	4.574134,24.4	5.07	0.00894559692446	VDB=0.341303;SGB=-0.692352;RPB=0.892495;MQB=0.847565;MQSB=0.99368;BQB=0.883387;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=93;DP4=26,18,11,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:44,21	T	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000178358-OR2D3/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1, PM2
H	11	6943041	rs540097297	C	T	222	PASS	OR2D3	.	exonic	NM_001004684	.	missense SNV	OR2D3:NM_001004684:exon1:c.C809T:p.S270L	ENST00000317834.4,ENST00000637205.1,ENSG00000178358.4,ENSG00000283415.1	.	11p15.4	.	.	.	.	.	rs540097297	.	.	0.00166113	0.001	0.000199681	.	0.00004188	214924	0.00048888	16364	0.00019433	.	.	.	GPCR, rhodopsin-like, 7TM	0.017,D	0.366,B	0.562,P	0.966799,N	0.001702,N	1.765,L	8.62,T	16.0939	2.752	3.439	5.591431,26.5	4.95	0.00673406447967	VDB=0.368916;SGB=-0.692717;RPB=0.125075;MQB=2.98522e-08;MQSB=0.97249;BQB=0.247066;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=73;DP4=20,12,15,8;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:55:255,0,255:32,23	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000178358-OR2D3/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1, PM2
H	11	10597887	rs552025202	C	G	222	PASS	MRVI1	Murine retrovirus integration site 1, homolog of	exonic	NM_001098579,NM_001100163,NM_001100167,NM_001206880,NM_001206881,NM_130385	.	missense SNV	MRVI1:NM_001206881:exon19:c.G1786C:p.E596Q,MRVI1:NM_001098579:exon20:c.G2707C:p.E903Q,MRVI1:NM_001206880:exon20:c.G2113C:p.E705Q,MRVI1:NM_001100163:exon21:c.G2458C:p.E820Q,MRVI1:NM_001100167:exon21:c.G1786C:p.E596Q,MRVI1:NM_130385:exon21:c.G2731C:p.E911Q	ENST00000558540.5,ENST00000534266.6,ENSG00000072952.18,ENSG00000177112.7,ENST00000529829.5,ENST00000547195.5,ENST00000424001.5,ENSG00000133800.8,ENST00000531107.5,ENST00000529979.5,ENST00000527509.6,ENST00000423302.6,ENST00000529448.5,ENST00000541483.5,ENST00000531706.1	.	11p15.4	.	.	.	.	.	rs552025202	.	.	0.00166113	0.003	0.000599042	.	0.00009399	276626	0.00138078	18830	0.00136028	.	.	.	.	0.0,D	0.998,D	1.0,D	0.980969,D	0.000025,D	1.645,L	2.33,T	17.8936	2.757	5.017	5.757402,27.0	5.82	0.0119067801391	VDB=0.960924;SGB=-0.693079;RPB=0.999916;MQB=6.15868e-06;MQSB=0.987279;BQB=0.843636;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=52;DP4=8,6,17,12;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:50:.:.	0/1:43:255,0,255:14,29	C	G	0	1	Murine retrovirus integration site 1, homolog of, 604673	.	.	.	10724174	.	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_DENSE_TUBULAR_NETWORK;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_SARCOPLASM;GO_ENDOPLASMIC_RETICULUM	.	KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION	.	.	REACTOME_CGMP_EFFECTS;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000072952-MRVI1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	smooth muscle: 54.2	cytoplasm; nucleus	.	PM2
H	11	12315907	rs370981648	G	A	197	PASS	MICALCL	MICAL C terminus-like protein	exonic	NM_032867	.	missense SNV	MICALCL:NM_032867:exon3:c.G929A:p.R310H	ENSG00000133808.4,ENST00000256186.2	.	11p15.3	.	.	.	.	.	rs370981648	.	.	0.00332226	0.002	0.000399361	0.0002	0.00015520	277056	0.00196203	18858	0.00155461	0.00088028	.	-0.1256	.	0.002,D	0.05,B	0.731,P	1,N	0.145740,N	1.955,M	1.56,T	9.9347	2.535	2.146	2.097844,16.84	4.3	0.011417383188	VDB=0.936522;SGB=-0.693147;RPB=0.935597;MQB=2.14428e-14;MQSB=0.44914;BQB=0.800348;MQ0F=0;ICB=1;HOB=0.5;MQ=31;DP=134;DP4=27,24,40,16;MinDP=76;AN=18;AC=1	GT:DP:PL:AD	0/0:76:.:.	0/0:123:.:.	0/0:101:.:.	0/0:102:.:.	0/0:78:.:.	0/0:106:.:.	0/0:87:.:.	0/0:100:.:.	0/1:107:230,0,255:51,56	G	A	0	1	MICAL C terminus-like protein, 612355	.	.	.	18241670	GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	.	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_KINASE_BINDING;GO_ENZYME_BINDING	.	.	.	.	A abundant granular cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000133808-MICALCL/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 8.0	cytoplasm; nucleus but not nucleoli; plasma membrane	.	PM2
L	11	13032022	rs763260519	A	C	225	PASS	RASSF10	Ras association domain family, member 10	exonic	NM_001080521	.	missense SNV	RASSF10:NM_001080521:exon1:c.A899C:p.E300A	ENST00000529419.2,ENSG00000189431.7	CpG: 209	11p15.2	.	.	.	.	Score=186;Name="692588:(CGG)n(Simple_repeat)"	rs763260519	.	.	.	.	.	.	0.00001338	149482	0.00008965	11154	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.300	-1.113	.	.	.	VDB=0.0407339;SGB=-0.693147;MQSB=0.986415;MQ0F=0;MQ=46;DP=109;DP4=0,0,47,36;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:68:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:74:.:.	0/0:53:.:.	0/0:56:.:.	1/1:83:255,250,0:0,83	A	C	1	0	Ras association domain family, member 10, 614713	.	.	.	19570220|20956940|18272789	.	GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000189431-RASSF10/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 2.8	.	.	PM2
L	11	14535162	rs184210551	T	C	225	PASS	PSMA1	Proteasome subunit, alpha-type, 1	exonic	NM_002786,NM_148976	.	synonymous SNV	PSMA1:NM_002786:exon7:c.A498G:p.Q166Q,PSMA1:NM_148976:exon8:c.A516G:p.Q172Q	ENST00000530457.5,ENSG00000129084.17,ENST00000396394.6,ENST00000418988.2,ENST00000555531.1,ENST00000528307.5,ENST00000533331.5,ENST00000527632.1,ENSG00000256206.2,ENST00000531023.1	.	11p15.2	.	.	.	.	.	rs184210551	.	.	0.00332226	0.004	0.000998403	.	0.00020411	259662	0.00181371	17092	0.00077730	.	.	-0.0919	.	1.0,T	.	.	1,D	.	.	0.85,T	19.7619	-3.010	-1.033	.	.	0.00851829534613	VDB=0.0159654;SGB=-0.693021;MQSB=0.699375;MQ0F=0;MQ=46;DP=36;DP4=0,0,21,6;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	1/1:27:255,81,0:0,27	T	C	1	0	Proteasome subunit, alpha-type, 1, 602854	.	.	.	7681138|8811196|1888762	GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_REGULATION_OF_RNA_STABILITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_LIGASE_ACTIVITY;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_AMINE_METABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE_ACTIVATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_FC_EPSILON_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_PROTEIN_POLYUBIQUITINATION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LIGASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE;GO_NIK_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_EXOGENOUS_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_CYTOKINE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	GO_PROTEASOME_COMPLEX;GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_POLYSOME;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PEPTIDASE_ACTIVITY;GO_THREONINE_TYPE_PEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY;GO_RNA_BINDING	KEGG_PROTEASOME	.	BIOCARTA_PROTEASOME_PATHWAY	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	General cytoplasmic and nuclear expression.	http://www.proteinatlas.org/ENSG00000129084-PSMA1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 75.9	nucleus but not nucleoli	.	BP7, PM2
H	11	18363125	.	A	G	225	PASS	GTF2H1	General transcription factor IIH, polypeptide 1 (62kD subunit)	exonic	NM_001142307,NM_005316	.	missense SNV	GTF2H1:NM_005316:exon7:c.A808G:p.T270A,GTF2H1:NM_001142307:exon8:c.A808G:p.T270A	ENST00000607664.1,ENST00000534641.5,ENST00000418116.6,ENST00000543932.5,ENSG00000110768.11,ENST00000453096.6,ENST00000265963.8,ENST00000524753.4	.	11p15.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00001227	244520	0.00017480	17162	.	.	.	0.0831	BSD	0.184,T	0.055,B	0.042,B	0.98566,D	0.000123,D	1.995,M	1.46,T	14.7578	1.906	4.995	1.432711,12.96	5.03	0.00844158163626	VDB=0.0459317;SGB=-0.693146;MQSB=0.719395;MQ0F=0;MQ=46;DP=56;DP4=0,0,18,26;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:49:.:.	0/0:31:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	1/1:44:255,132,0:0,44	A	G	1	0	General transcription factor IIH, polypeptide 1 (62kD subunit), 189972	.	.	.	10993082|12393803|7789978|1733973|15220921|8855246|8162052|12453423|1495560|9118947|7533895|11089979	GO_CHROMOSOME_ORGANIZATION;GO_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION;GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_KINASE_ACTIVITY;GO_MRNA_PROCESSING;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DNA_CONFORMATION_CHANGE;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_DNA_REPAIR;GO_TRANSCRIPTION_ELONGATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NUCLEOTIDE_EXCISION_REPAIR_PREINCISION_COMPLEX_ASSEMBLY;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_RNA_CAPPING;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_DNA_GEOMETRIC_CHANGE;GO_NUCLEOTIDE_EXCISION_REPAIR_DNA_INCISION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_I_PROMOTER;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_MRNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NUCLEOTIDE_EXCISION_REPAIR_DNA_DUPLEX_UNWINDING;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NUCLEOTIDE_EXCISION_REPAIR_PREINCISION_COMPLEX_STABILIZATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_HOLO_TFIIH_COMPLEX;GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_RNA_POLYMERASE_COMPLEX;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_PROTEIN_KINASE_COMPLEX;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX;GO_CARBOXY_TERMINAL_DOMAIN_PROTEIN_KINASE_COMPLEX;GO_DNA_DIRECTED_RNA_POLYMERASE_II_HOLOENZYME	GO_ATPASE_ACTIVITY_COUPLED;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_CHROMATIN_BINDING;GO_RNA_POLYMERASE_II_CARBOXY_TERMINAL_DOMAIN_KINASE_ACTIVITY;GO_ATPASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_RNA_POL_I_TRANSCRIPTION_TERMINATION;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_CAPPING;REACTOME_TRANSCRIPTION_COUPLED_NER_TC_NER;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_MRNA_PROCESSING;REACTOME_TRANSCRIPTION;REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX_;REACTOME_FORMATION_OF_TRANSCRIPTION_COUPLED_NER_TC_NER_REPAIR_COMPLEX;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_DNA_REPAIR;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_FORMATION_OF_THE_HIV1_EARLY_ELONGATION_COMPLEX;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION_INITIATION	General nuclear expression.	http://www.proteinatlas.org/ENSG00000110768-GTF2H1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 29.6	nucleus but not nucleoli	.	PM1
H	11	20117210	rs150276360	A	G	222	PASS	NAV2	Neuron navigator 2	splicing	NM_001111018,NM_001111019,NM_001244963,NM_145117,NM_182964	NM_001111018:exon30:c.5725-8A>G;NM_001111019:exon20:c.3109-8A>G;NM_001244963:exon32:c.6094-8A>G;NM_145117:exon30:c.5917-8A>G;NM_182964:exon30:c.5926-8A>G	.	.	ENST00000540292.5,ENST00000396087.7,ENST00000349880.8,ENST00000527559.6,ENST00000396085.5,ENSG00000166833.19,ENST00000533917.5,ENST00000360655.8	.	11p15.1	.	.	Score=932;Name=V$HOXA3_01	.	.	rs150276360	.	.	0.0232558	0.0188	0.00539137	0.0013	0.00309725	277020	0.02115589	18860	0.01690634	0.01496479	0.0001,0	0.7462	.	.	.	.	.	.	.	.	.	0.434	-0.053	1.608671,13.90	.	.	VDB=0.391218;SGB=-0.692914;RPB=0.993246;MQB=0.659804;MQSB=0.971017;BQB=0.973258;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=69;DP4=22,3,18,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:50:255,0,255:25,25	A	G	0	1	Neuron navigator 2, 607026	.	.	.	12062803|12079279|11904404|10718198	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_CRANIAL_NERVE_DEVELOPMENT;GO_OPTIC_NERVE_DEVELOPMENT;GO_NERVE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_NEUROLOGICAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_AUTONOMIC_NERVOUS_SYSTEM_DEVELOPMENT;GO_LOCOMOTORY_BEHAVIOR;GO_PARASYMPATHETIC_NERVOUS_SYSTEM_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_BEHAVIOR	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_INTERSTITIAL_MATRIX	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in most tissues.	http://www.proteinatlas.org/ENSG00000166833-NAV2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 14.8	nucleus but not nucleoli	.	.
L	11	44073200	rs11037843	C	T	222	PASS	ACCSL	.	splicing	NM_001031854	NM_001031854:exon5:c.706-3C>T	.	.	ENST00000527145.1,ENST00000378832.1,ENSG00000205126.2	.	11p11.2	.	.	Score=906;Name=V$MYOD_01	.	.	rs11037843	.	.	0.0282392	0.0407	0.0125799	0.0008	0.00612926	277032	0.03381386	18868	0.03284104	0.03169014	0.0029,0.082	-0.7119	.	.	.	.	.	.	.	.	.	1.080	1.424	1.466472,13.14	3.67	.	VDB=0.263492;SGB=-0.693145;RPB=0.998469;MQB=5.88838e-14;MQSB=0.462102;BQB=0.998904;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=112;DP4=34,13,24,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:87:255,0,255:47,40	C	T	0	1	.	.	.	.	.	.	.	GO_PYRIDOXAL_PHOSPHATE_BINDING;GO_COFACTOR_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000205126-ACCSL/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.2	.	.	BS1
H	11	46564032	rs144724685	C	T	222	PASS	AMBRA1	Activating molecule in beclin 1-regulated autophagy	exonic	NM_001267782,NM_001267783,NM_001300731,NM_017749	.	missense SNV	AMBRA1:NM_001300731:exon7:c.G1535A:p.R512Q,AMBRA1:NM_001267782:exon8:c.G1265A:p.R422Q,AMBRA1:NM_001267783:exon8:c.G1265A:p.R422Q,AMBRA1:NM_017749:exon8:c.G1265A:p.R422Q	ENST00000314845.7,ENST00000533727.5,ENSG00000110497.14,ENST00000458649.6,ENST00000534300.5,ENST00000528950.1	.	11p11.2	.	.	.	.	.	rs144724685	.	.	0.00996678	0.0089	0.00199681	0.0003	0.00145571	276840	0.00376458	18860	0.00563545	0.00704225	.	-0.0708	.	0.006,D	0.99,D	0.999,D	0.999997,D	0.000000,D	2.045,M	-0.49,T	20.1605	2.756	4.399	6.876999,33	5.85	0.0457259945358	VDB=0.636115;SGB=-0.693147;RPB=0.495715;MQB=4.12641e-17;MQSB=0.988939;BQB=0.457674;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=166;DP4=37,26,43,33;MinDP=92;AN=18;AC=1	GT:DP:PL:AD	0/0:92:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:139:255,0,255:63,76	C	T	0	1	Activating molecule in beclin 1-regulated autophagy, 611359	.	.	.	17589504|11214970	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_AUTOPHAGY;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEURAL_TUBE_DEVELOPMENT;GO_REGULATION_OF_VACUOLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_MACROAUTOPHAGY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_TUBE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_MITOPHAGY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_MACROMITOPHAGY;GO_POSITIVE_REGULATION_OF_AUTOPHAGY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_AUTOPHAGOSOME_ASSEMBLY;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_TISSUE_DEVELOPMENT;GO_ORGANELLE_DISASSEMBLY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_PHAGOCYTIC_VESICLE;GO_AUTOPHAGOSOME;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_CILIARY_PART;GO_INTRACELLULAR_VESICLE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_OUTER_MEMBRANE;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_ENVELOPE;GO_CILIARY_PLASM;GO_MITOCHONDRIAL_ENVELOPE;GO_CILIUM	GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000110497-AMBRA1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 9.7	vesicles; mitochondria	.	PP3
H	11	47861581	rs200557252	T	C	222	PASS	NUP160	Nucleoporin, 160kD	exonic	NM_015231	.	missense SNV	NUP160:NM_015231:exon4:c.A562G:p.T188A	ENST00000529863.1,ENST00000526870.1,ENST00000528071.5,ENST00000528501.5,ENST00000530326.5,ENST00000378460.6,ENSG00000030066.13	.	11p11.2	.	.	Score=819;Name=V$FREAC3_01	.	.	rs200557252	.	.	0.00498339	0.004	0.000798722	.	0.00017691	276970	0.00227875	18870	0.00349786	0.00352113	.	-0.0062	.	0.167,T	0.191,B	0.187,B	1,D	0.000010,D	2.215,M	1.04,T	15.4885	2.063	6.891	4.043502,23.7	5.44	0.0237517914762	VDB=0.172591;SGB=-0.690438;RPB=0.309566;MQB=0.00207775;MQSB=0.584539;BQB=0.931552;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=30;DP4=2,8,9,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:19:.:.	0/0:12:.:.	0/0:19:.:.	0/0:30:.:.	0/0:13:.:.	0/0:30:.:.	0/0:14:.:.	0/1:27:255,0,170:10,17	T	C	0	1	Nucleoporin, 160kD, 607614	.	.	.	20974814|8724849|11684705|17363900	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MEMBRANE_DISASSEMBLY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_NUCLEAR_TRANSPORT;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_MITOTIC_CELL_CYCLE;GO_NITROGEN_COMPOUND_TRANSPORT;GO_RIBONUCLEOPROTEIN_COMPLEX_LOCALIZATION;GO_SISTER_CHROMATID_SEGREGATION;GO_SISTER_CHROMATID_COHESION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_PROTEIN_SUMOYLATION;GO_TRNA_TRANSPORT;GO_VIRAL_LIFE_CYCLE;GO_MULTI_ORGANISM_LOCALIZATION;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_GENE_SILENCING;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MULTI_ORGANISM_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_NUCLEAR_ENVELOPE_ORGANIZATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_MEMBRANE_ORGANIZATION;GO_NUCLEUS_ORGANIZATION;GO_NUCLEAR_EXPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_RNA_LOCALIZATION;GO_GENE_SILENCING_BY_RNA;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION	GO_CHROMOSOME;GO_NUCLEAR_ENVELOPE;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_KINETOCHORE;GO_ENVELOPE;GO_NUCLEAR_PORE	GO_NUCLEOCYTOPLASMIC_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000030066-NUP160/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 18.2	.	.	PM2
H	11	48146657	.	G	A	222	PASS	PTPRJ	Protein tyrosine phosphatase, receptor type, J polypeptide	exonic	NM_001098503,NM_002843	.	missense SNV	PTPRJ:NM_001098503:exon6:c.G1012A:p.G338S,PTPRJ:NM_002843:exon6:c.G1012A:p.G338S	ENST00000615445.4,ENSG00000149177.12,ENST00000418331.6,ENST00000440289.6,ENST00000613246.4	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000406	246194	0.00005800	17242	.	.	.	-0.3207	Fibronectin type III;Immunoglobulin-like fold	0.089,T	0.474,P	0.768,P	1,N	.	1.59,L	3.2,T	8.3638	-0.197	0.341	.	.	0.00905215513711	VDB=0.615497;SGB=-0.693144;RPB=0.815126;MQB=5.87039e-13;MQSB=0.416772;BQB=0.520907;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=123;DP4=33,13,34,5;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:85:255,0,255:46,39	G	A	0	1	Colon cancer, somatic, 114500 (3)	.	.	.	7994032|16000320|7937872|12089527|8575779	GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_MAPK_CASCADE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_KINASE_ACTIVITY;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_TAXIS;GO_NEGATIVE_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_LOCOMOTION;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_VASCULAR_PERMEABILITY;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_CHEMOTAXIS	GO_IMMUNOLOGICAL_SYNAPSE;GO_CELL_PROJECTION_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_LEADING_EDGE_MEMBRANE;GO_RUFFLE_MEMBRANE;GO_CELL_SURFACE;GO_CELL_CELL_JUNCTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION	GO_BETA_CATENIN_BINDING;GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_KINASE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_ENZYME_BINDING;GO_GAMMA_CATENIN_BINDING;GO_RECEPTOR_BINDING;GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_BINDING	KEGG_ADHERENS_JUNCTION	PID_MET_PATHWAY;PID_PDGFRB_PATHWAY;PID_VEGFR1_2_PATHWAY	.	.	Cytoplasmic expression in subsets of immune cells and cytoplasmic membranous expression in most glandular cells and epithelia.	http://www.proteinatlas.org/ENSG00000149177-PTPRJ/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 19.3	.	.	PM2
H	11	48181561	rs143145279	T	C	222	PASS	PTPRJ	Protein tyrosine phosphatase, receptor type, J polypeptide	exonic	NM_002843	.	missense SNV	PTPRJ:NM_002843:exon22:c.T3518C:p.V1173A	ENST00000615445.4,ENSG00000149177.12,ENST00000418331.6,ENST00000613246.4	.	11p11.2	.	.	.	.	.	rs143145279	.	.	0.0215947	0.0159	0.00339457	7.7e-05	0.00096346	277126	0.01198557	18856	0.01904392	0.01760563	.	0.0072	Protein-tyrosine phosphatase, receptor/non-receptor type;Protein-tyrosine phosphatase-like	0.028,D	0.357,B	0.542,P	0.994811,N	.	0.97,L	-1.65,D	13.8173	2.152	1.542	3.584810,23.2	5.62	.	VDB=0.210637;SGB=-0.692831;RPB=0.755669;MQB=2.9565e-07;MQSB=0.982076;BQB=0.999659;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=67;DP4=11,19,8,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:32:.:.	0/1:54:255,0,255:30,24	T	C	0	1	Colon cancer, somatic, 114500 (3)	.	.	.	7994032|16000320|7937872|12089527|8575779	GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REGULATION_OF_MAPK_CASCADE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_KINASE_ACTIVITY;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_TAXIS;GO_NEGATIVE_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_LOCOMOTION;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_POSITIVE_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_VASCULAR_PERMEABILITY;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_CHEMOTAXIS	GO_IMMUNOLOGICAL_SYNAPSE;GO_CELL_PROJECTION_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_LEADING_EDGE_MEMBRANE;GO_RUFFLE_MEMBRANE;GO_CELL_SURFACE;GO_CELL_CELL_JUNCTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION	GO_BETA_CATENIN_BINDING;GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_KINASE_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_ENZYME_BINDING;GO_GAMMA_CATENIN_BINDING;GO_RECEPTOR_BINDING;GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_BINDING	KEGG_ADHERENS_JUNCTION	PID_MET_PATHWAY;PID_PDGFRB_PATHWAY;PID_VEGFR1_2_PATHWAY	.	.	Cytoplasmic expression in subsets of immune cells and cytoplasmic membranous expression in most glandular cells and epithelia.	http://www.proteinatlas.org/ENSG00000149177-PTPRJ/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 19.3	.	.	PM1
L	11	55135685	rs373493945	TG	T	68	PASS	OR4A15	.	exonic	NM_001005275	.	frameshift deletion	OR4A15:NM_001005275:exon1:c.327delG:p.M109fs	ENSG00000181958.3,ENST00000314706.3	.	11q11	.	.	.	Score=0.900815;Name=chr11:55252612	.	rs373493945	.	.	0.00664452	0.005	0.000998403	.	0.00019172	276440	0.00260944	18778	0.00680934	0.00704225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.701818;SGB=-0.590765;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=14;DP4=6,2,5,0;IDV=6;IMF=0.428571;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:15:.:.	0/0:10:.:.	0/0:13:.:.	0/0:12:.:.	0/0:10:.:.	0/0:10:.:.	0/0:17:.:.	0/1:13:101,0,196:8,5	TG	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000181958-OR4A15/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	.
H	11	55371059	rs187050403	G	T	222	PASS	OR4C11	.	exonic	NM_001004700	.	missense SNV	OR4C11:NM_001004700:exon1:c.C791A:p.P264H	ENST00000302231.4,ENSG00000172188.4	.	11q11	.	.	.	.	.	rs187050403	.	.	0.00166113	0.001	0.000199681	.	0.00034564	251708	0.00545113	15960	0.00480989	0.00739372	.	.	GPCR, rhodopsin-like, 7TM	0.0,D	0.025,B	0.025,B	1,N	0.035527,U	1.69,L	8.77,T	15.9533	2.425	0.382	1.299580,12.27	4.34	0.000609309460196	VDB=0.382712;SGB=-0.693079;RPB=0.964712;MQB=3.97331e-06;MQSB=0.155048;BQB=0.499644;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=24,9,15,14;MinDP=10;AN=12;AC=1	GT:DP:PL:AD	0/0:10:.:.	./.:.:.:.	0/0:50:.:.	./.:.:.:.	./.:.:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:62:255,0,255:33,29	G	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000172188-OR4C11/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1
M	11	55587692	rs142645670	A	G	222	PASS	OR5D18	.	exonic	NM_001001952	.	missense SNV	OR5D18:NM_001001952:exon1:c.A587G:p.N196S	ENST00000333976.5,ENSG00000186119.7	.	11q11	.	.	Score=837;Name=V$PBX1_02	.	.	rs142645670	.	.	0.00332226	0.002	0.000399361	.	0.00005052	277114	0.00074215	18864	0.00136028	0.00352113	.	.	GPCR, rhodopsin-like, 7TM	0.839,T	0.001,B	0.0,B	1,N	0.755228,N	1.38,L	8.54,T	1.1875	-0.255	-1.788	.	.	0.00227620200324	VDB=0.880127;SGB=-0.692717;RPB=0.748282;MQB=2.88623e-09;MQSB=0.918544;BQB=0.969555;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=20,16,13,10;MinDP=41;AN=18;AC=1	GT:DP:PL:AD	0/0:41:.:.	0/0:50:.:.	0/0:51:.:.	0/0:53:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:59:255,0,255:36,23	A	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_ODORANT_BINDING	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000186119-OR5D18/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4, PM1, PM2
H	11	57313729	.	T	C	79	PASS	SMTNL1	Smoothelin-like 1	exonic	NM_001105565	.	missense SNV	SMTNL1:NM_001105565:exon5:c.T1097C:p.L366S	ENST00000527972.5,ENST00000399154.3,ENSG00000214872.8	.	11q12.1	.	.	Score=763;Name=V$PAX5_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1610	.	0.052,T	0.689,P	0.94,P	0.911784,N	0.023931,U	0.695,N	-3.17,D	13.5355	2.040	0.079	5.145630,25.4	4.84	0.244514273349	VDB=0.188618;SGB=-0.651104;RPB=0.596163;MQB=0.170289;MQSB=0.266032;BQB=0.855161;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=41;DP4=12,8,8,0;MinDP=14;AN=18;AC=1	GT:DP:PL:AD	0/0:21:.:.	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	0/0:15:.:.	0/0:26:.:.	0/0:22:.:.	0/0:14:.:.	0/1:28:113,0,255:20,8	T	C	0	1	Smoothelin-like 1, 613664	.	.	.	15327999|20634291|18310078	GO_CIRCULATORY_SYSTEM_PROCESS;GO_REGULATION_OF_VASODILATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_VASOCONSTRICTION;GO_NEGATIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_SYSTEM_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_VASOCONSTRICTION;GO_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_BLOOD_CIRCULATION	GO_I_BAND;GO_M_BAND;GO_CONTRACTILE_FIBER;GO_A_BAND	GO_CALMODULIN_BINDING	.	.	.	.	Most normal tissues displayed moderate to strong nuclear positivity.	http://www.proteinatlas.org/ENSG00000214872-SMTNL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 6.8	.	.	PM2
L	11	58956702	rs2275991	C	T	222	PASS	DTX4	Deltex, Drosoophila, homolog of, 4	exonic	NM_001300727,NM_015177	.	synonymous SNV	DTX4:NM_001300727:exon4:c.C747T:p.V249V,DTX4:NM_015177:exon4:c.C1065T:p.V355V	ENSG00000110042.7,ENST00000227451.3,ENST00000531902.1,ENST00000532982.5	.	11q12.1	.	.	Score=863;Name=V$SPZ1_01	.	.	rs2275991	.	.	0.0315615	0.0437	0.014377	0.0002	0.00580681	275194	0.04091976	18744	0.03497862	0.03697183	.	1.0677	.	.	.	.	.	.	.	.	.	0.730	0.132	1.995860,16.19	3.75	.	VDB=0.0159459;SGB=-0.690438;RPB=0.663189;MQB=0.000165579;MQSB=0.996974;BQB=0.560378;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=42;DP4=13,2,14,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:28:.:.	0/0:30:.:.	0/0:30:.:.	0/1:32:255,0,254:15,17	C	T	0	1	Deltex, Drosoophila, homolog of, 4, 616110	.	.	.	22388039|10231032	GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_NOTCH_SIGNALING_PATHWAY;GO_PROTEIN_UBIQUITINATION;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION	.	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH	Cytoplasmic expression in selected tissues.	http://www.proteinatlas.org/ENSG00000110042-DTX4/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	urinary bladder: 21.1	vesicles	.	BS1, PP3
L	11	60105313	rs140696222	T	C	222	PASS	MS4A6E	Membrane-spanning 4-domains, subfamily A, member 6E	exonic	NM_139249	.	synonymous SNV	MS4A6E:NM_139249:exon2:c.T247C:p.L83L	ENST00000532756.1,ENSG00000166926.8,ENST00000530509.1,ENST00000300182.8	.	11q12.2	.	.	.	.	.	rs140696222	.	.	0.0348837	0.0278	0.0071885	.	0.00144663	277196	0.01738577	18866	0.01146522	0.00792254	.	-0.0479	.	.	.	.	.	.	.	.	.	-1.772	-5.066	.	.	.	VDB=0.620031;SGB=-0.693021;RPB=0.959078;MQB=2.83342e-08;MQSB=0.658617;BQB=0.878192;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=84;DP4=22,10,22,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:59:255,0,255:32,27	T	C	0	1	Membrane-spanning 4-domains, subfamily A, member 6E, 608402	.	.	.	11486273	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000166926-MS4A6E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	appendix: 1.0	.	.	BP7
H	11	60615388	rs78514751	C	A	222	PASS	CCDC86	Coiled-coil domain-containing protein 86	splicing	NM_024098	NM_024098:exon2:c.759-9C>A	.	.	ENSG00000256813.1,ENST00000535217.1,ENSG00000110104.11,ENST00000545580.1,ENST00000227520.9,ENST00000538705.1	.	11q12.2	.	.	.	.	.	rs78514751	.	.	0.051495	0.0427	0.00958466	7.7e-05	0.00272398	275700	0.03556976	18780	0.03828216	0.03961268	0.0026,0.074	-1.0613	.	.	.	.	.	.	.	.	.	0.616	1.092	.	2.02	.	VDB=0.012582;SGB=-0.693147;RPB=0.33419;MQB=2.45725e-20;MQSB=0.990951;BQB=0.319057;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=199;DP4=59,23,44,16;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:142:255,0,255:82,60	C	A	0	1	Coiled-coil domain-containing protein 86, 611293	.	.	.	17300783	GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS	GO_NUCLEOLUS	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	General expression, nuclear and nucleolar.	http://www.proteinatlas.org/ENSG00000110104-CCDC86/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 38.0	nucleoli; nucleus	.	BS1
M*	11	60704117	rs200803302	C	T	222	PASS	TMEM132A	Transmembrane protein 132A	exonic	NM_017870,NM_178031	.	missense SNV	TMEM132A:NM_017870:exon11:c.C2813T:p.A938V,TMEM132A:NM_178031:exon11:c.C2810T:p.A937V	ENST00000540112.1,ENSG00000006118.14,ENST00000005286.8,ENST00000535480.1,ENST00000453848.6	.	11q12.2	.	.	.	.	.	rs200803302	.	.	0.00332226	0.003	0.000599042	.	0.00029068	223612	0.00366594	17458	0.00350467	0.00706714	.	.	.	0.607,T	0.004,B	0.001,B	1,N	0.921899,N	1.32,L	3.48,T	5.0697	0.047	0.237	.	.	0.00804584214179	VDB=0.853325;SGB=-0.69311;RPB=0.766919;MQB=3.77499e-07;MQSB=0.999896;BQB=0.976859;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=75;DP4=13,17,17,14;MinDP=36;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:55:.:.	0/0:39:.:.	0/0:50:.:.	0/0:36:.:.	0/0:41:.:.	0/0:50:.:.	0/0:39:.:.	0/1:61:255,0,255:30,31	C	T	0	1	Transmembrane protein 132A, 617363	.	.	.	10997877|16806201|12514190	.	GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	Granular cytoplasmic expression in a majority of tissues, most abundant in glandular cells.	http://www.proteinatlas.org/ENSG00000006118-TMEM132A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 18.0	mitochondria	.	BP4
H-	11	60718755	rs200982819	C	A	222	PASS	SLC15A3	Solute carrier family 15 (oligopeptide transporter), member 3	exonic	NM_016582	.	missense SNV	SLC15A3:NM_016582:exon1:c.G269T:p.G90V	ENST00000227880.7,ENST00000538739.1,ENST00000541505.5,ENSG00000110446.10	CpG: 58	11q12.2	.	.	.	.	.	rs200982819	.	.	0.00830565	0.0119	0.00239617	.	0.00152412	137128	0.02808355	7086	0.01885692	0.01320423	.	.	Major facilitator superfamily domain	0.005,D	0.996,D	1.0,D	0.999999,D	0.095056,N	3.06,M	0.3,T	7.1367	0.685	2.676	6.410191,29.7	2.3	.	VDB=0.848275;SGB=-0.683931;RPB=0.451549;MQB=0.00163115;MQSB=0.918304;BQB=0.999199;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=78;DP4=24,9,20,8;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/1:31:255,0,255:18,13	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:30:242,0,255:15,15	C	A	0	2	Solute carrier family 15 (oligopeptide transporter), member 3, 610408	.	.	.	11741232|24695226|11336635	GO_ION_TRANSPORT;GO_AMIDE_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_HYDROGEN_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_PEPTIDE_TRANSPORT	GO_VACUOLE;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_AMIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SOLUTE_PROTON_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	Moderate membranous and/or cytoplasmic positivity was observed in respiratory epithelia, the gastrointestinal tract, gall bladder, urothelium, breast glands and fractions of cells in squamous epithelia. Subsets of Leydig cells, cells in the spleenic red pulp and bone marrow showed strong cytoplasmic staining. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000110446-SLC15A3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lung: 66.0	vesicles	.	PM1, PP3
L-	11	60718880	.	G	C	222	PASS	SLC15A3	Solute carrier family 15 (oligopeptide transporter), member 3	exonic	NM_016582	.	synonymous SNV	SLC15A3:NM_016582:exon1:c.C144G:p.A48A	ENST00000227880.7,ENST00000538739.1,ENST00000541505.5,ENSG00000110446.10	CpG: 58	11q12.2	.	.	Score=850;Name=V$SRF_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.153	1.349532,12.53	2.55	.	VDB=0.0194198;SGB=-0.692067;RPB=0.318743;MQB=2.53887e-05;MQSB=0.89224;BQB=0.435523;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=48;DP4=10,6,10,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:36:255,0,255:16,20	G	C	0	1	Solute carrier family 15 (oligopeptide transporter), member 3, 610408	.	.	.	11741232|24695226|11336635	GO_ION_TRANSPORT;GO_AMIDE_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_HYDROGEN_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_PEPTIDE_TRANSPORT	GO_VACUOLE;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_AMIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SOLUTE_PROTON_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	Moderate membranous and/or cytoplasmic positivity was observed in respiratory epithelia, the gastrointestinal tract, gall bladder, urothelium, breast glands and fractions of cells in squamous epithelia. Subsets of Leydig cells, cells in the spleenic red pulp and bone marrow showed strong cytoplasmic staining. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000110446-SLC15A3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lung: 66.0	vesicles	.	PM2
H	11	61160810	.	G	A	222	PASS	TMEM216	Transmembrane protein 216	splicing	NM_001173990,NM_001173991,NM_001330285,NM_016499	NM_001173990:exon2:c.136+6G>A;NM_001173991:exon2:c.136+6G>A;NM_001330285:exon2:UTR5;NM_016499:exon2:UTR5	.	.	ENSG00000187049.9,ENST00000544795.5,ENST00000515837.6,ENST00000334888.9,ENST00000541473.1,ENST00000398979.7	.	11q12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004,0.02	0.6529	.	.	.	.	.	.	.	.	.	-0.421	0.000	1.517921,13.41	.	.	VDB=0.0773559;SGB=-0.692914;RPB=0.885846;MQB=7.24212e-07;MQSB=0.908421;BQB=0.30614;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=58;DP4=11,7,12,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:255,0,255:18,25	G	A	0	1	Joubert syndrome 2, 608091 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive	.	.	.	20036350|22282472|20512146	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION	GO_CILIARY_PART;GO_CYTOSKELETON;GO_CILIARY_TRANSITION_ZONE;GO_TCTN_B9D_COMPLEX;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_CILIUM	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000187049-TMEM216/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 22.1	.	.	PM2
H	11	63403670	rs3781606	C	T	151	PASS	ATL3	Atlastin 3	splicing	NM_001290048,NM_015459	NM_001290048:exon9:c.924+9G>A;NM_015459:exon9:c.978+9G>A	.	.	ENSG00000184743.12,ENST00000398868.7,ENST00000538786.1	.	11q13.1	.	.	.	.	.	rs3781606	.	.	0.00166113	0.0079	0.00159744	.	0.00064977	272402	0.00919098	18714	0.00758165	0.00706714	.	-0.1923	.	.	.	.	.	.	.	.	.	0.623	0.516	.	2.7	.	VDB=0.0478483;SGB=-0.670168;RPB=0.437521;MQB=0.00667961;MQSB=0.995434;BQB=0.884898;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=28;DP4=10,2,9,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/1:22:184,0,237:12,10	C	T	0	1	Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant	.	.	.	24459106|14506257	GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ENDOPLASMIC_RETICULUM_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_GOLGI_ORGANIZATION	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_IDENTICAL_PROTEIN_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000184743-ATL3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 28.2	.	.	BS2
H	11	63994533	rs747556532	C	G	222	PASS	NUDT22	.	exonic	NM_001128612,NM_001128613,NM_001271831,NM_032344	.	missense SNV	NUDT22:NM_001128612:exon2:c.C409G:p.L137V,NUDT22:NM_001128613:exon2:c.C409G:p.L137V,NUDT22:NM_001271831:exon2:c.C409G:p.L137V,NUDT22:NM_032344:exon2:c.C409G:p.L137V	ENST00000422364.2,ENST00000441250.6,ENST00000535000.1,ENSG00000149761.8,ENST00000537707.1,ENST00000543358.5,ENST00000279206.7,ENST00000428347.2	.	11q13.1	.	.	.	.	.	rs747556532	.	.	.	.	.	.	0.00006176	259060	0.00081887	18318	0.00174893	.	.	0.6481	NUDIX hydrolase domain	0.063,T	0.269,B	0.811,P	0.997206,D	0.000024,D	2.74,M	1.15,T	8.1026	0.661	2.161	3.501596,23.1	2.68	0.0127024965369	VDB=0.769175;SGB=-0.693147;RPB=0.207599;MQB=4.22352e-20;MQSB=0.71983;BQB=0.305295;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=156;DP4=38,33,37,24;MinDP=55;AN=18;AC=1	GT:DP:PL:AD	0/0:55:.:.	0/0:101:.:.	0/0:101:.:.	0/0:126:.:.	0/0:100:.:.	0/0:100:.:.	0/0:87:.:.	0/0:100:.:.	0/1:132:255,0,255:71,61	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000149761-NUDT22/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 23.7	nucleus but not nucleoli	.	PM1, PM2
H	11	64012682	rs768777921	C	G	175	PASS	PPP1R14B	Protein phosphatase 1, regulatory subunit 14B	exonic	NM_138689	.	missense SNV	PPP1R14B:NM_138689:exon2:c.G336C:p.R112S	ENST00000309318.7,ENST00000392210.6,ENST00000542235.1,ENSG00000173457.10	.	11q13.1	.	.	.	.	.	rs768777921	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6049	.	0.027,D	0.039,B	0.057,B	0.998288,D	0.000000,U	2.045,M	.	8.0722	0.743	0.960	4.085470,23.7	.	0.0171669902493	VDB=0.722387;SGB=-0.688148;RPB=0.921227;MQB=1.87651e-05;MQSB=0.552632;BQB=0.961727;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=55;DP4=24,1,14,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:15:.:.	0/0:10:.:.	0/0:31:.:.	0/1:40:208,0,251:25,15	C	G	0	1	Protein phosphatase 1, regulatory subunit 14B, 601140	.	.	.	8838322|8670283	GO_IMMUNE_SYSTEM_PROCESS;GO_DEFENSE_RESPONSE;GO_INNATE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	.	GO_PHOSPHATASE_INHIBITOR_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_PHOSPHATASE_INHIBITOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PHOSPHATASE_REGULATOR_ACTIVITY	.	PID_ILK_PATHWAY	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000173457-PPP1R14B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 22.9	.	.	PM2
L	11	64109600	rs750700862	G	A	222	PASS	CCDC88B	Coiled-coil domain-containing protein 88B	exonic	NM_032251	.	synonymous SNV	CCDC88B:NM_032251:exon8:c.G810A:p.L270L	ENST00000463837.5,ENST00000356786.9,ENSG00000168071.21,ENST00000494080.5	.	11q13.1	.	.	.	.	.	rs750700862	.	.	.	.	.	.	0.00002135	234208	0.00029937	16702	0.00077730	.	.	0.0962	.	.	.	.	.	.	.	.	.	0.107	0.352	0.988826,10.60	.	.	VDB=0.388697;SGB=-0.693097;RPB=0.911291;MQB=2.511e-08;MQSB=0.234675;BQB=0.61843;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=72;DP4=17,8,12,18;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:49:.:.	0/1:55:255,0,255:25,30	G	A	0	1	Coiled-coil domain-containing protein 88B, 611205	.	.	.	17185515|25403443|21289099|15882442	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELL_PROLIFERATION	.	.	.	.	.	.	Most of the normal tissues showed weak to moderate cytoplasmic positivity which often was combined with staining in plasma and nuclear membranes. Staining in nuclear membranes was observed in airway while prostate displayed additional staining in plasma membranes. Leydig cells and lymphoid cells outside the reaction centra showed strong cytoplasmic staining while squamous epithelia, myocytes and hepatocytes were negative.	http://www.proteinatlas.org/ENSG00000168071-CCDC88B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 28.1	.	.	BP7, PM2
L	11	64573750	rs371364206	G	T	222	PASS	MEN1	Menin	exonic	NM_000244,NM_130799,NM_130800,NM_130801,NM_130802,NM_130803,NM_130804	.	synonymous SNV	MEN1:NM_000244:exon7:c.C1018A:p.R340R,MEN1:NM_130799:exon7:c.C1003A:p.R335R,MEN1:NM_130800:exon7:c.C1018A:p.R340R,MEN1:NM_130801:exon7:c.C1018A:p.R340R,MEN1:NM_130802:exon7:c.C1018A:p.R340R,MEN1:NM_130803:exon7:c.C1018A:p.R340R,MEN1:NM_130804:exon8:c.C1018A:p.R340R	ENST00000377321.5,ENST00000440873.5,ENST00000377316.6,ENST00000394374.6,ENST00000394376.5,ENST00000337652.5,ENST00000377313.5,ENSG00000133895.14,ENST00000377326.7,ENST00000312049.10,ENST00000315422.8,ENST00000478548.1	.	11q13.1	.	.	Score=813;Name=V$BRN2_01	.	.	rs371364206	Likely benign|Likely benign;not_specified|Multiple_endocrine_neoplasia,_type_1;RCV000246806.2|RCV000461335.1;MedGen|MeSH:MedGen:OMIM:Orphanet:SNOMED_CT;CN169374|D018761:C0025267:131100:ORPHA652:30664006	.	0	0.002	0.000399361	.	0.00012988	277178	0.00174881	18870	0.00233191	0.00088028	.	-0.2138	.	.	.	.	.	.	.	.	.	1.927	5.177	1.461913,13.11	3.92	.	VDB=0.0056309;SGB=-0.693147;RPB=0.763292;MQB=1.45371e-14;MQSB=0.73214;BQB=0.436195;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=131;DP4=30,14,37,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:94:255,0,255:44,50	G	T	0	1	Adrenal adenoma, somatic (3); Angiofibroma, somatic (3); Carcinoid tumor of lung (3); Lipoma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Parathyroid adenoma, somatic (3)	.	Multiple endocrine neoplasia 1(CD068110)	CCGCAAT^334GTGcGGGAAGCCCT|c.1003delC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=16962958&amp;dopt=Abstract)	16962958|9989505|9215689|15205994|9463336|2857681|9740255|15333582|22275377|9709976|15292357|10439966|9103196|16415155|11158604|9236523|9361035|15240620|6108714|9709922|15870131|9843042|9683585|10393837|11579199|9465067|9241276|9920087|22327296|21252315|11274402|10022445|9215690|12837246|12417605|9554741|11549677|12791038|9543172|11701736|10647896|11134142|11095441|9792884|9709921|12050235|9498491|12112656|16239140|12915678	GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_RESPONSE_TO_IONIZING_RADIATION;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_BINDING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_BINDING;GO_HISTONE_METHYLATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS;GO_HOMEOSTATIC_PROCESS;GO_OSTEOBLAST_DIFFERENTIATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PANCREAS_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_TELOMERASE_ACTIVITY;GO_DECIDUALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_DNA_REPAIR;GO_CHROMATIN_MODIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ENDOCRINE_PANCREAS_DEVELOPMENT;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_RESPONSE_TO_HORMONE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_COVALENT_CHROMATIN_MODIFICATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CHROMATIN_ORGANIZATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_UV;GO_RESPONSE_TO_RADIATION;GO_REGULATION_OF_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION;GO_OSSIFICATION;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_CELLULAR_GLUCOSE_HOMEOSTASIS;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_ENTEROENDOCRINE_CELL_DIFFERENTIATION;GO_REGULATION_OF_JNK_CASCADE;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_CARBOHYDRATE_HOMEOSTASIS;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_JNK_CASCADE;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_MATERNAL_PROCESS_INVOLVED_IN_FEMALE_PREGNANCY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_RESPONSE_TO_GAMMA_RADIATION;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_OSTEOBLAST_DEVELOPMENT;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_OSSIFICATION;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_DNA_REPLICATION;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_PLACENTA_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_BETA_CATENIN_TCF_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REPRODUCTION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_METHYLATION;GO_CELL_DEVELOPMENT;GO_MATERNAL_PLACENTA_DEVELOPMENT;GO_MACROMOLECULE_METHYLATION;GO_REGULATION_OF_BINDING;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PROTEIN_ALKYLATION;GO_CELLULAR_HOMEOSTASIS;GO_PEPTIDYL_LYSINE_METHYLATION;GO_NEGATIVE_REGULATION_OF_DNA_REPLICATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TELOMERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_DNA_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_OSSIFICATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_GLANDULAR_EPITHELIAL_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_TRANSFERASE_COMPLEX;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_HISTONE_METHYLTRANSFERASE_COMPLEX;GO_CELL_DIVISION_SITE;GO_METHYLTRANSFERASE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_CELL_SURFACE;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY;GO_CHROMOSOME_TELOMERIC_REGION	GO_SMAD_BINDING;GO_DNA_SECONDARY_STRUCTURE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_N_METHYLTRANSFERASE_ACTIVITY;GO_R_SMAD_BINDING;GO_PROTEIN_METHYLTRANSFERASE_ACTIVITY;GO_BINDING_BRIDGING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_FOUR_WAY_JUNCTION_DNA_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_HISTONE_LYSINE_N_METHYLTRANSFERASE_ACTIVITY;GO_CHROMATIN_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_PROTEIN_N_TERMINUS_BINDING;GO_LYSINE_N_METHYLTRANSFERASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURE_SPECIFIC_DNA_BINDING;GO_HISTONE_METHYLTRANSFERASE_ACTIVITY	.	.	.	REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	Moderate to strong nuclear positivity was observed in gastrointestinal glands, decidual cells, cells in seminiferus ducts and glial cells. Hepatocytes, glomeruli, respiratory epithelium and neuropil showed moderate to strong cytoplasmic staining. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000133895-MEN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 14.0	nucleus but not nucleoli; cytoplasm	.	BP6
L	11	65652436	rs757768112	G	A	222	PASS	FIBP	Fibroblast growth factor, acidic, intracellular binding protein	exonic	NM_004214,NM_198897	.	synonymous SNV	FIBP:NM_004214:exon7:c.C789T:p.G263G,FIBP:NM_198897:exon7:c.C810T:p.G270G	ENST00000357519.8,ENST00000532229.1,ENST00000525765.5,ENSG00000172500.12,ENST00000532934.5,ENST00000533045.5,ENST00000533037.5,ENST00000534032.5,ENST00000338369.6,ENST00000531115.5	.	11q13.1	.	.	.	.	.	rs757768112	.	.	.	.	.	.	0.00010824	277152	0.00148399	18868	0.00058298	0.00088183	.	-1.5831	.	.	.	.	.	.	.	.	.	-1.694	-2.609	1.958487,15.95	.	.	VDB=0.569417;SGB=-0.693147;RPB=0.581857;MQB=3.72141e-21;MQSB=0.907814;BQB=0.90813;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=190;DP4=61,16,52,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/1:146:255,0,255:77,69	G	A	0	1	Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive	.	.	.	27183861|11104667|9806903|26660953	GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_CELL_ACTIVATION;GO_WOUND_HEALING;GO_CELL_CELL_ADHESION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR;GO_RESPONSE_TO_GROWTH_FACTOR;GO_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_HOMOTYPIC_CELL_CELL_ADHESION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_BIOLOGICAL_ADHESION;GO_PLATELET_AGGREGATION;GO_HEMOSTASIS	GO_MITOCHONDRION	GO_FIBROBLAST_GROWTH_FACTOR_BINDING;GO_GROWTH_FACTOR_BINDING	.	.	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000172500-FIBP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 43.4	nucleus	.	BP7, PM2
H+	11	66108268	rs200013073	C	T	222	PASS	BRMS1	Breast cancer metastasis suppressor 1	exonic	NM_001024957,NM_015399	.	missense SNV	BRMS1:NM_001024957:exon6:c.G512A:p.R171H,BRMS1:NM_015399:exon6:c.G512A:p.R171H	ENST00000359957.7,ENST00000530756.1,ENST00000525127.1,ENSG00000174744.13,ENST00000524699.5,ENST00000425825.6,ENST00000534617.5,ENST00000530238.5,ENST00000527375.5	.	11q13.2	.	.	.	.	.	rs200013073	.	.	.	.	.	.	0.00005086	275292	0.00053090	18836	.	0.00088339	.	0.1881	.	0.001,D	0.998,D	1.0,D	0.998458,D	0.000002,D	2.285,M	.	15.4661	2.251	3.552	7.542702,34	4.87	0.050953084661	VDB=0.064039;SGB=-0.693127;RPB=0.752293;MQB=3.77513e-11;MQSB=0.427654;BQB=0.616162;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=29,3,25,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:32,33	C	T	0	1	Breast cancer metastasis suppressor 1, 606259	.	.	.	18211900|8640802|10850410	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_PROTEIN_DEACETYLATION;GO_CELL_DEATH;GO_MACROMOLECULE_DEACYLATION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CHROMATIN_MODIFICATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CHROMATIN_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ANOIKIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_DEACETYLATION;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_SIN3_TYPE_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_HISTONE_DEACETYLASE_COMPLEX	GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_HISTONE_DEACETYLASE_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_NF_KAPPAB_BINDING;GO_ENZYME_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS	.	.	.	.	Nuclear and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000174744-BRMS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 26.4	centrosome	.	PM2, PP3
L	11	71249465	rs144266749	C	T	222	PASS	KRTAP5-8	.	exonic	NM_021046	.	missense SNV	KRTAP5-8:NM_021046:exon1:c.C364T:p.P122S	ENSG00000241233.3,ENST00000398534.3	.	11q13.4	.	.	.	Score=0.921529;Name=chr11:1626825	.	rs144266749	.	.	0.00332226	0.0079	0.00159744	.	0.00052333	277072	0.00722098	18834	0.01360280	0.01144366	.	.	.	0.032,D	0.008,B	0.003,B	1,N	.	1.335,L	4.9,T	4.8597	0.023	0.456	.	.	0.00152600103784	VDB=0.113124;SGB=-0.693147;RPB=0.962676;MQB=3.54187e-15;MQSB=0.229362;BQB=0.72747;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=296;DP4=83,35,66,41;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:192:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:103:.:.	0/1:225:255,0,255:118,106	C	T	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000241233-KRTAP5-8/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lymph node: 0.1	.	.	BP4
H+	11	75167852	.	G	C	222	PASS	GDPD5	Glycerophosphodiester phosphodiesterase domain-containing protein 3	exonic	NM_030792	.	missense SNV	GDPD5:NM_030792:exon6:c.C325G:p.L109V	ENST00000527820.5,ENSG00000158555.14,ENST00000533784.5,ENST00000528031.1,ENST00000527322.5,ENST00000443276.6,ENST00000529721.5,ENST00000336898.7	.	11q13.4	.	.	Score=737;Name=V$PPARA_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2945	.	0.306,T	0.931,D	0.999,D	1,D	0.000000,D	1.47,L	1.57,T	17.0961	2.653	6.482	4.371676,24.1	5.6	0.0125152459203	VDB=0.025187;SGB=-0.693147;RPB=0.0288708;MQB=2.81899e-23;MQSB=0.92879;BQB=0.94394;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=194;DP4=41,52,24,38;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:155:255,0,255:93,62	G	C	0	1	Glycerophosphodiester phosphodiesterase domain-containing protein 3, 609632	.	.	.	18667693|17578682|23329048|16195461|19766572	GO_SPINAL_CORD_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY;GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD;GO_FOREBRAIN_DEVELOPMENT;GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION;GO_VENTRAL_SPINAL_CORD_DEVELOPMENT;GO_CEREBRAL_CORTEX_NEURON_DIFFERENTIATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_CYCLE;GO_NEUROGENESIS;GO_REGULATION_OF_NOTCH_SIGNALING_PATHWAY;GO_LIPID_METABOLIC_PROCESS;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_DEVELOPMENT_HETEROCHRONIC;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_AXON;GO_PERINUCLEAR_ENDOPLASMIC_RETICULUM;GO_ENDOPLASMIC_RETICULUM_PART;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENDOPLASMIC_RETICULUM	GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in several tissues along with neuropil expression.	http://www.proteinatlas.org/ENSG00000158555-GDPD5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 45.2	.	.	PM2
L	11	77301469	rs74854928	C	A	222	PASS	AQP11	Aquaporin 11	exonic	NM_173039	.	synonymous SNV	AQP11:NM_173039:exon1:c.C432A:p.T144T	ENST00000528638.1,ENSG00000178301.3,ENST00000313578.3,ENSG00000074201.8,ENST00000526761.5	.	11q14.1	.	.	.	.	.	rs74854928	.	.	0.0116279	0.0099	0.00199681	.	0.00092720	277180	0.01319975	18864	0.01943257	0.01584507	.	.	.	.	.	.	.	.	.	.	.	0.678	-0.161	1.929929,15.77	2.49	.	VDB=0.24343;SGB=-0.693147;RPB=0.927114;MQB=2.36165e-25;MQSB=0.999107;BQB=0.966695;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=225;DP4=43,40,55,48;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:186:255,0,255:83,103	C	A	0	1	Aquaporin 11, 609914	.	.	.	16107722	GO_ION_TRANSPORT;GO_CARBOHYDRATE_TRANSPORT;GO_AMIDE_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_PROTEIN_OLIGOMERIZATION;GO_WATER_TRANSPORT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_POLYOL_TRANSPORT;GO_ONE_CARBON_COMPOUND_TRANSPORT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_FLUID_TRANSPORT	GO_NEURON_PART;GO_NEURON_PROJECTION;GO_CELL_SURFACE;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_WATER_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic positivity, with a granular pattern. Hematopoietic cells, renal glomeruli and glial cells were generally negative.	http://www.proteinatlas.org/ENSG00000178301-AQP11/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 5.8	nucleus but not nucleoli; vesicles	.	PP3
L	11	77924721	rs77997049	G	A	222	PASS	USP35	.	exonic	NM_020798	.	synonymous SNV	USP35:NM_020798:exon11:c.G2919A:p.A973A	ENST00000530535.5,ENST00000530546.5,ENSG00000118369.12,ENST00000529308.5,ENST00000526425.1,ENST00000530267.5	.	11q14.1	.	.	Score=789;Name=V$GFI1_01	.	.	rs77997049	.	.	0.00830565	0.0089	0.00239617	.	0.00079238	198138	0.00866935	9920	0.00621842	0.00528169	.	.	.	.	.	.	.	.	.	.	.	-1.507	-3.151	1.374958,12.66	.	.	VDB=0.0092509;SGB=-0.693139;RPB=0.153732;MQB=1.5453e-09;MQSB=0.872841;BQB=0.896216;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=118;DP4=31,22,26,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/0:51:.:.	0/0:52:.:.	0/0:50:.:.	0/0:55:.:.	0/1:89:255,0,255:53,36	G	A	0	1	.	.	.	.	.	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY	.	.	.	.	Selective nuclear and cytoplasmic expression in selected cell types including skeletal muscle.	http://www.proteinatlas.org/ENSG00000118369-USP35/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 8.2	nucleoli; nucleus	.	BP7
L	11	82880258	rs147029675	G	T	222	PASS	PCF11	PCF11, yeast, homolog of	exonic	NM_001346413,NM_001346414,NM_001346415,NM_015885	.	missense SNV	PCF11:NM_001346413:exon8:c.G3274T:p.G1092C,PCF11:NM_001346414:exon8:c.G3274T:p.G1092C,PCF11:NM_001346415:exon8:c.G2881T:p.G961C,PCF11:NM_015885:exon8:c.G2881T:p.G961C	ENST00000298281.8,ENSG00000165494.11	.	11q14.1	.	.	.	.	.	rs147029675	.	.	0.0780731	0.0645	0.0133786	0.0002	0.00364059	276878	0.04820747	18856	0.04314030	0.03873239	.	-0.0110	.	0.004,D	0.707,P	0.992,D	0.576344,D	0.002374,N	1.935,L	1.86,T	10.2676	2.885	2.619	4.273771,24.0	5.11	.	VDB=0.761698;SGB=-0.693147;RPB=0.625429;MQB=4.95819e-15;MQSB=0.998952;BQB=0.988697;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=128;DP4=32,23,31,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:70:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:95:.:.	0/0:50:.:.	0/0:100:.:.	0/1:105:255,0,255:55,49	G	T	0	1	PCF11, yeast, homolog of, 608876	.	.	.	11060040|15241417|10048485	GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_MRNA_3_END_PROCESSING;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_MRNA_CLEAVAGE;GO_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION;GO_RNA_POLYADENYLATION;GO_MRNA_METABOLIC_PROCESS;GO_RNA_3_END_PROCESSING;GO_RNA_SPLICING	GO_MRNA_CLEAVAGE_FACTOR_COMPLEX;GO_NUCLEOPLASM_PART	GO_RNA_POLYMERASE_II_CORE_BINDING;GO_MRNA_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_RNA_POLYMERASE_BINDING;GO_RNA_POLYMERASE_CORE_ENZYME_BINDING;GO_BASAL_TRANSCRIPTION_MACHINERY_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	Gastrointestinal tract, gall bladder and renal tubules showed strong granular cytoplasmic positivity. Macrophages of lung, hepatocytes, adrenal gland, exocrine pancreas, placenta, leydig cells and seminal vesicle showed moderate positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000165494-PCF11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 26.6	.	.	BS1, PP3
L-	11	92702915	.	C	T	94	PASS	MTNR1B	Melatonin receptor 1B	exonic	NM_005959	.	synonymous SNV	MTNR1B:NM_005959:exon1:c.C24T:p.A8A	ENST00000257068.2,ENST00000532482.1,ENSG00000134640.2	CpG: 60	11q14.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.025	0.183	1.159421,11.53	.	.	VDB=0.560195;SGB=-0.670168;RPB=0.54797;MQB=0.000269453;MQSB=1;BQB=0.987799;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=36;DP4=22,1,10,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:33:127,0,192:23,10	C	T	0	1	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant	.	.	.	22286214|16778767|7568007	GO_CIRCADIAN_RHYTHM;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_CHEMICAL_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_PROCESS;GO_REGULATION_OF_VASODILATION;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_NEGATIVE_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CIRCADIAN_SLEEP_WAKE_CYCLE;GO_NEGATIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_POSITIVE_REGULATION_OF_VASODILATION;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CIRCADIAN_SLEEP_WAKE_CYCLE_NON_REM_SLEEP;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_CIRCADIAN_RHYTHM;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_REGULATION_OF_CGMP_METABOLIC_PROCESS;GO_REGULATION_OF_ACTION_POTENTIAL;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_REGULATION_OF_NEUROLOGICAL_SYSTEM_PROCESS;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_CARBOHYDRATE_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_DELAYED_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;GO_RHYTHMIC_PROCESS;GO_EYE_DEVELOPMENT;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_ION_HOMEOSTASIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_TRANSMISSION_OF_NERVE_IMPULSE;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	.	http://www.proteinatlas.org/ENSG00000134640-MTNR1B/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.1	.	.	BP7, PM2
L	11	100064359	rs778265126	C	T	222	PASS	CNTN5	Contactin 5	exonic	NM_001243270,NM_001243271,NM_014361,NM_175566	.	synonymous SNV	CNTN5:NM_175566:exon12:c.C1626T:p.F542F,CNTN5:NM_001243270:exon14:c.C1848T:p.F616F,CNTN5:NM_001243271:exon15:c.C1848T:p.F616F,CNTN5:NM_014361:exon15:c.C1848T:p.F616F	ENST00000528727.5,ENST00000619298.1,ENST00000527185.5,ENST00000524871.5,ENST00000528682.5,ENST00000524560.1,ENST00000418526.6,ENSG00000149972.10,ENST00000279463.7	.	11q22.1	.	.	Score=904;Name=V$SRY_02	.	.	rs778265126	.	.	.	.	.	.	0.00018886	275330	0.00223690	18776	0.00077821	.	.	-0.3113	.	.	.	.	.	.	.	.	.	-2.235	0.555	1.428348,12.94	.	.	VDB=0.195767;SGB=-0.693054;RPB=0.966532;MQB=4.85322e-11;MQSB=0.986872;BQB=0.993586;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=103;DP4=27,18,16,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:73:255,0,255:45,28	C	T	0	1	Contactin 5, 607219	.	.	.	11013081	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_SYSTEM_PROCESS;GO_BIOLOGICAL_ADHESION	GO_ANCHORED_COMPONENT_OF_MEMBRANE	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000149972-CNTN5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 1.5	cytoplasm	.	BP7, PM2
H	11	103175453	rs769400590	GATTCAGATAA	G	222	PASS	DYNC2H1	Dynein, cytoplasmic-2, heavy chain-1	splicing	NM_001080463,NM_001377	.	.	.	ENST00000375735.6,ENST00000398093.7,ENST00000334267.11,ENSG00000187240.13,ENST00000528670.5	.	11q22.3	.	.	.	.	.	rs769400590	.	.	.	.	.	.	0.00028582	272900	0.00237146	18554	0.00097163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.420231,10.69	.	.	INDEL;VDB=0.0265616;SGB=-0.680642;MQSB=0.98699;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=44;DP4=7,22,4,8;IDV=12;IMF=0.272727;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:41:255,0,255:29,12	GATTCAGATAA	G	0	1	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Autosomal recessive, Digenic recessive	.	.	.	9450951|8832411|19442771|22499340|8186465|9325061|19361615|21552265|15937072|25470043|23456818|21211617|8666668|8812413	GO_SPINAL_CORD_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_CELL_PART_MORPHOGENESIS;GO_CORONARY_VASCULATURE_DEVELOPMENT;GO_IMMUNE_SYSTEM_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_PROJECTION_ASSEMBLY;GO_PROTEIN_MATURATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD;GO_MICROTUBULE_BASED_PROCESS;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_FOREBRAIN_DEVELOPMENT;GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION;GO_ESTABLISHMENT_OF_LOCALIZATION_BY_MOVEMENT_ALONG_MICROTUBULE;GO_SPECIFICATION_OF_SYMMETRY;GO_VENTRAL_SPINAL_CORD_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_APPENDAGE_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_PROTEIN_TRANSPORT_ALONG_MICROTUBULE;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_EMBRYONIC_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_HEAD_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_ASYMMETRIC_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_LOCALIZATION;GO_NEURON_DIFFERENTIATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PATTERN_SPECIFICATION_PROCESS;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_PROTEOLYSIS;GO_GOLGI_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_APICAL_PART_OF_CELL;GO_CILIARY_TIP;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_DYNEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_GOLGI_APPARATUS;GO_CILIARY_PLASM;GO_CILIUM	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000187240-DYNC2H1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 8.5	mitochondria	.	PM2
L	11	108356977	rs145604569	C	T	222	PASS	KDELC2	.	exonic	NM_153705	.	synonymous SNV	KDELC2:NM_153705:exon3:c.G591A:p.T197T	ENST00000530529.5,ENST00000524787.1,ENST00000434945.6,ENSG00000178202.12,ENST00000323468.9	.	11q22.3	.	.	Score=913;Name=V$HLF_01	.	.	rs145604569	.	.	0.00830565	0.0099	0.00199681	.	0.00076140	277120	0.01012189	18870	0.00874466	0.00792254	.	-0.1774	.	.	.	.	.	.	.	.	.	-1.873	-0.766	.	.	.	VDB=0.582986;SGB=-0.692562;RPB=0.948826;MQB=3.82826e-07;MQSB=0.536446;BQB=0.89446;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=71;DP4=29,1,19,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:46:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:52:255,0,255:30,22	C	T	0	1	.	.	.	.	.	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPOSACCHARIDE_METABOLIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_ENDOPLASMIC_RETICULUM	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GLUCOSYLTRANSFERASE_ACTIVITY	.	.	.	.	Selective cytoplasmic expression in a subset of tissues. Most abundant in placental trophoblasts.	http://www.proteinatlas.org/ENSG00000178202-KDELC2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 34.9	nucleus but not nucleoli; vesicles	.	BP7
H	11	108382348	.	C	G	222	PASS	EXPH5	Exophilin 5	exonic	NM_001144763,NM_001144764,NM_001144765,NM_001308019,NM_015065	.	missense SNV	EXPH5:NM_001144765:exon3:c.G3322C:p.D1108H,EXPH5:NM_001144764:exon4:c.G3418C:p.D1140H,EXPH5:NM_001144763:exon6:c.G3658C:p.D1220H,EXPH5:NM_015065:exon6:c.G3886C:p.D1296H,EXPH5:NM_001308019:exon7:c.G3865C:p.D1289H	ENST00000265843.8,ENSG00000110723.11,ENST00000533052.1,ENST00000526312.5,ENST00000525344.5	.	11q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009,D	0.821,P	0.985,D	1,N	0.527127,N	1.59,L	3.54,T	11.6909	1.441	0.266	3.848827,23.4	3.57	0.00849260969015	VDB=0.705581;SGB=-0.69312;RPB=0.690967;MQB=8.52109e-11;MQSB=0.867582;BQB=0.968979;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=87;DP4=16,19,18,14;MinDP=16;AN=18;AC=1	GT:DP:PL:AD	0/0:16:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:44:.:.	0/1:67:255,0,255:35,32	C	G	0	1	Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive	.	.	.	9734811|11773082|23176819	GO_EPITHELIUM_DEVELOPMENT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_EXOCYTOSIS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_KERATINOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_MULTIVESICULAR_BODY_SORTING_PATHWAY;GO_EPIDERMIS_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SECRETION;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION	GO_VACUOLE;GO_ENDOSOME	GO_RAB_GTPASE_BINDING;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	.	.	.	Strong cytoplasmic and nuclear positivity was observed in hepatocytes while melanocytes displayed strong cytoplasmic immunoreactivity. The gastrointestinal tract showed moderate to strong cytoplasmic staining in fractions of cells. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000110723-EXPH5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 6.2	.	.	PM2
L	11	117310034	rs374221934	C	T	222	PASS	DSCAML1	Down syndrome cell adhesion molecule-like 1	exonic	NM_020693	.	synonymous SNV	DSCAML1:NM_020693:exon23:c.G4272A:p.T1424T	ENST00000527706.5,ENST00000321322.6,ENSG00000177103.13	.	11q23.3	.	.	.	.	.	rs374221934	.	.	.	.	.	0.0002	0.00019130	277058	0.00063600	18868	0.00019433	0.00088028	.	-0.3697	.	.	.	.	.	.	.	.	.	-0.548	-4.545	1.389258,12.73	.	.	VDB=0.000194082;SGB=-0.693147;RPB=0.99778;MQB=3.5613e-14;MQSB=0.505167;BQB=0.55154;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=154;DP4=35,19,27,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:109:255,0,255:54,55	C	T	0	1	Down syndrome cell adhesion molecule-like 1, 611782	.	.	.	11453658|12051741|10574461|18216854	GO_NEURON_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_CELL_PART_MORPHOGENESIS;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_CELL_CELL_ADHESION;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_HEAD_DEVELOPMENT;GO_CELL_FATE_DETERMINATION;GO_CELL_FATE_COMMITMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_PATTERN_SPECIFICATION_PROCESS;GO_CELL_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BIOLOGICAL_ADHESION	GO_CELL_JUNCTION;GO_SYNAPSE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_DSCAM_INTERACTIONS	Nuclear expression in selected tissues with extracellular positivity in several tissues.	http://www.proteinatlas.org/ENSG00000177103-DSCAML1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 2.4	.	.	BP7, PM2
L	11	118184510	rs528492194	G	A	222	PASS	CD3E	CD3E antigen, epsilon polypeptide (TiT3 complex)	exonic	NM_000733	.	synonymous SNV	CD3E:NM_000733:exon7:c.G441A:p.L147L	ENST00000526146.5,ENSG00000198851.9,ENST00000531913.1,ENST00000361763.8,ENST00000528600.1	.	11q23.3	.	.	.	.	.	rs528492194	.	.	0.00498339	0.003	0.000599042	.	0.00019843	277180	0.00291468	18870	0.00582977	0.00616197	.	-0.1276	.	.	.	.	.	.	.	.	.	-0.042	0.235	.	.	.	VDB=0.188762;SGB=-0.693097;RPB=0.732764;MQB=7.61686e-08;MQSB=0.994278;BQB=0.847625;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=12,14,13,17;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:31:.:.	0/0:50:.:.	0/1:56:255,0,255:26,30	G	A	0	1	Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive	.	.	.	12937416|3267235|9843989|15546002|3012357|2882512|1676369|10952314|8490660|1370449|1671006	GO_REGULATION_OF_CELL_ACTIVATION;GO_LEUKOCYTE_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_REGULATION_OF_INTERLEUKIN_4_PRODUCTION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_THYMIC_T_CELL_SELECTION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_LYMPHOCYTE_COSTIMULATION;GO_CELL_DEATH;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELL_ACTIVATION;GO_REGULATION_OF_TOLERANCE_INDUCTION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_CELL_ADHESION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_THYMOCYTE_AGGREGATION;GO_LYMPHOCYTE_ACTIVATION;GO_REGULATION_OF_T_CELL_TOLERANCE_INDUCTION;GO_REGULATION_OF_INTERLEUKIN_2_BIOSYNTHETIC_PROCESS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_ALPHA_BETA_T_CELL_PROLIFERATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY;GO_NEGATIVE_T_CELL_SELECTION;GO_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_4_PRODUCTION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_2_PRODUCTION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_INTERLEUKIN_2_PRODUCTION;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_NUTRIENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_ALPHA_BETA_T_CELL_PROLIFERATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTERLEUKIN_2_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_LYMPHOCYTE_DIFFERENTIATION;GO_T_CELL_SELECTION;GO_POSITIVE_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION	GO_IMMUNOLOGICAL_SYNAPSE;GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_T_CELL_RECEPTOR_COMPLEX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_JUNCTION;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CELL_CELL_JUNCTION;GO_RECEPTOR_COMPLEX;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_COMPLEX_SCAFFOLD;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_SH3_DOMAIN_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_RECEPTOR_SIGNALING_COMPLEX_SCAFFOLD_ACTIVITY;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_PRIMARY_IMMUNODEFICIENCY	PID_TCR_PATHWAY;PID_IL12_2PATHWAY;PID_CD8_TCR_PATHWAY;PID_CXCR4_PATHWAY;PID_IL23_PATHWAY;PID_CD8_TCR_DOWNSTREAM_PATHWAY;PID_IL12_STAT4_PATHWAY	BIOCARTA_CSK_PATHWAY;BIOCARTA_CTL_PATHWAY;BIOCARTA_TCAPOPTOSIS_PATHWAY;BIOCARTA_IL17_PATHWAY;BIOCARTA_IL12_PATHWAY;BIOCARTA_TCRA_PATHWAY;BIOCARTA_NO2IL12_PATHWAY;BIOCARTA_TOB1_PATHWAY;BIOCARTA_STATHMIN_PATHWAY;BIOCARTA_TCR_PATHWAY;BIOCARTA_TCYTOTOXIC_PATHWAY;BIOCARTA_THELPER_PATHWAY;BIOCARTA_CTLA4_PATHWAY	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_TCR_SIGNALING;REACTOME_DOWNSTREAM_TCR_SIGNALING;REACTOME_PHOSPHORYLATION_OF_CD3_AND_TCR_ZETA_CHAINS;REACTOME_TRANSLOCATION_OF_ZAP_70_TO_IMMUNOLOGICAL_SYNAPSE;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_PD1_SIGNALING;REACTOME_COSTIMULATION_BY_THE_CD28_FAMILY;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Selective expression in subsets of immune cells	http://www.proteinatlas.org/ENSG00000198851-CD3E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 65.7	.	.	BP7
H-	11	119227954	rs779255127	T	C	222	PASS	USP2	.	exonic	NM_001243759,NM_004205,NM_171997	.	missense SNV	USP2:NM_001243759:exon11:c.A944G:p.Y315C,USP2:NM_171997:exon11:c.A1046G:p.Y349C,USP2:NM_004205:exon12:c.A1673G:p.Y558C	ENST00000260187.6,ENST00000525735.1,ENSG00000036672.15,ENST00000455332.6	.	11q23.3	.	.	.	.	.	rs779255127	.	.	.	.	.	.	0.00001628	245702	.	.	.	.	.	-0.6648	Peptidase C19, ubiquitin carboxyl-terminal hydrolase;Ubiquitin specific protease domain;Ubiquitin specific protease, conserved site	0.0,D	1.0,D	1.0,D	1,D	0.000000,D	4.565,H	1.99,T	10.9776	2.132	7.958	6.010806,27.9	5.63	0.251588694725	VDB=0.143444;SGB=-0.693147;RPB=0.972102;MQB=4.42788e-07;MQSB=0.301791;BQB=0.929393;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=156;DP4=46,3,50,1;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:95:.:.	0/0:50:.:.	0/0:88:.:.	0/0:50:.:.	0/1:100:255,0,255:49,51	T	C	0	1	.	.	.	.	.	GO_CIRCADIAN_RHYTHM;GO_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT;GO_PHOTOPERIODISM;GO_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_ENTRAINMENT_OF_CIRCADIAN_CLOCK_BY_PHOTOPERIOD;GO_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_PROTEIN_STABILIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_RADIATION;GO_REGULATION_OF_CELL_CYCLE;GO_ENTRAINMENT_OF_CIRCADIAN_CLOCK;GO_NEGATIVE_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_STABILITY;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RHYTHMIC_BEHAVIOR;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RHYTHMIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_LOCOMOTORY_BEHAVIOR;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_BEHAVIOR;GO_PROTEOLYSIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOPLASMIC_REGION;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_CORTEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CYCLIN_BINDING;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000036672-USP2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skeletal muscle: 43.0	plasma membrane; cytoplasm	.	PM1, PM2, PP3
H	11	121033013	rs144946579	G	A	222	PASS	TECTA	Tectorin, alpha	exonic	NM_005422	.	missense SNV	TECTA:NM_005422:exon15:c.G5206A:p.A1736T	ENST00000264037.2,ENST00000392793.5,ENSG00000109927.9	.	11q23.3	.	.	.	.	.	rs144946579	.	.	0.00332226	0.004	0.000798722	.	0.00014295	244836	0.00156631	17238	0.00058298	.	.	-0.0548	Uncharacterised domain, cysteine-rich	0.238,T	0.625,P	0.985,D	0.999999,D	0.000000,D	1.99,M	-1.2,T	19.4789	2.598	9.187	4.266265,23.9	5.54	0.0379815601269	VDB=0.0118437;SGB=-0.693141;RPB=0.481333;MQB=7.93984e-10;MQSB=0.181634;BQB=0.43318;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=92;DP4=9,23,23,14;MinDP=32;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:32:.:.	0/0:51:.:.	0/0:54:.:.	0/1:69:255,0,255:32,37	G	A	0	1	Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive	.	.	.	10196713|9718342|10987647|18575463|9503015|12162770|6971620|11087000|15995703|9079715|17431902|17661817|11333869|9949200|12746400|16718611|9590290	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_CELL_MATRIX_ADHESION;GO_CELL_SUBSTRATE_ADHESION;GO_SYSTEM_PROCESS;GO_BIOLOGICAL_ADHESION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_ANCHORED_COMPONENT_OF_MEMBRANE	GO_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Most of the normal tissues were negative. Breast, cells in seminiferous ducts and cases of squamous epithelia showed moderate cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000109927-TECTA/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 0.6	.	.	PM2, PP3
H	11	123813764	rs539085460	C	T	222	PASS	OR6T1	.	exonic	NM_001005187	.	missense SNV	OR6T1:NM_001005187:exon1:c.G782A:p.R261H	ENST00000321252.2,ENSG00000181499.2	.	11q24.1	.	.	.	.	.	rs539085460	.	.	0.00166113	0.001	0.000199681	.	0.00011190	277022	0.00116661	18858	0.00097163	0.00176056	.	.	GPCR, rhodopsin-like, 7TM	0.001,D	0.772,P	0.973,D	1,N	.	2.35,M	1.18,T	3.701	0.152	-1.798	3.147930,22.6	.	0.0161830964788	VDB=0.1368;SGB=-0.692562;RPB=0.813472;MQB=0.00868976;MQSB=0.422891;BQB=0.593759;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=60;DP4=13,19,10,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:45:.:.	0/0:50:.:.	0/0:54:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:54:255,0,255:32,22	C	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000181499-OR6T1/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.2	.	.	PM1, PM2
H	11	124006828	rs2276055	C	T	222	PASS	VWA5A	von Willebrand factor A domain-containing protein 5A	splicing	NM_001130142,NM_014622	NM_001130142:exon13:c.1360-8C>T;NM_014622:exon12:c.1360-8C>T	.	.	ENST00000392748.5,ENSG00000110002.15,ENST00000456829.6	.	11q24.2	.	.	.	.	.	rs2276055	.	.	0.00498339	0.0079	0.00159744	.	0.00100932	276424	0.01452964	18858	0.00932763	0.01056338	0,0	0.9687	.	.	.	.	.	.	.	.	.	0.033	-0.271	.	.	.	VDB=0.0764371;SGB=-0.692352;RPB=0.970177;MQB=9.25846e-06;MQSB=0.392576;BQB=0.95612;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=57;DP4=17,9,17,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:34:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:10:.:.	0/0:50:.:.	0/1:47:255,0,255:26,21	C	T	0	1	von Willebrand factor A domain-containing protein 5A, 602929	.	.	.	14504409|9417908	.	.	.	.	.	.	.	Expression in nuclear membranes of most cells.	http://www.proteinatlas.org/ENSG00000110002-VWA5A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	rectum: 35.4	nucleus	.	.
H+	11	124757704	rs201758034	G	A	222	PASS	ROBO4	Roundabout, Drosophila, homolog of, 4	exonic	NM_001301088,NM_019055	.	missense SNV	ROBO4:NM_001301088:exon13:c.C1546T:p.R516W,ROBO4:NM_019055:exon13:c.C1981T:p.R661W	ENST00000533054.5,ENST00000534407.5,ENST00000306534.7,ENSG00000154133.14,ENST00000532216.5	.	11q24.2	.	.	Score=720;Name=V$LUN1_01	.	.	rs201758034	.	.	0.00332226	0.004	0.000998403	.	0.00037219	276738	0.00473002	18816	0.00272056	0.00352113	.	0.1244	.	0.004,D	0.968,D	1.0,D	0.898632,N	0.005279,N	2.215,M	-0.14,T	12.2237	0.322	2.457	5.876155,27.4	2.28	0.0673790850155	VDB=0.91287;SGB=-0.693147;RPB=0.777647;MQB=8.34054e-16;MQSB=0.802279;BQB=0.983253;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=184;DP4=40,35,37,25;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:137:255,0,255:75,62	G	A	0	1	Roundabout, Drosophila, homolog of, 4, 607528	.	.	.	15849270|11944987|18345009|24355925	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_ANGIOGENESIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT	.	GO_RECEPTOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000154133-ROBO4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 35.6	.	.	PM2
H	11	130066458	rs761882105	C	CG	31.4061	PASS	ST14	Suppression of tumorigenicity 14	splicing	NM_021978	NM_021978:exon11:c.1224-7->G	.	.	ENST00000530376.1,ENST00000278742.5,ENST00000524718.5,ENSG00000149418.10	.	11q24.3	.	.	.	.	.	rs761882105	.	.	.	.	.	.	0.00002177	275576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.996578;SGB=-0.693147;MQSB=0.0708503;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=161;DP4=22,47,38,29;IDV=75;IMF=0.465839;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:44:.:.	0/0:73:.:.	0/0:77:.:.	0/0:11:.:.	0/0:100:.:.	0/0:72:.:.	0/0:72:.:.	0/0:69:.:.	0/1:136:64,0,80:69,67	C	CG	0	1	Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive	.	.	.	18843291|18445049|17273967|11696548|21097670|9450882|10373424|9083044|16838070|12032844|14638864|11290548|20657595|19389929|10500122|12207612|9925927	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LABYRINTHINE_LAYER_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_NEURAL_TUBE_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_CELL_DIFFERENTIATION_INVOLVED_IN_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_KERATINOCYTE_DIFFERENTIATION;GO_TUBE_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_EMBRYONIC_MORPHOGENESIS;GO_EPIDERMIS_DEVELOPMENT;GO_BRANCHING_INVOLVED_IN_LABYRINTHINE_LAYER_MORPHOGENESIS;GO_TUBE_FORMATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_TUBE_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_PLACENTA_DEVELOPMENT;GO_REPRODUCTION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_MORPHOGENESIS;GO_TISSUE_DEVELOPMENT;GO_PROTEOLYSIS	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_PLASMA_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000149418-ST14/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	colon: 103.4	.	.	PM2
H	11	130068523	rs117109847	C	T	222	PASS	ST14	Suppression of tumorigenicity 14	splicing	NM_021978	NM_021978:exon14:c.1684+7C>T	.	.	ENST00000278742.5,ENSG00000149418.10	.	11q24.3	.	.	.	.	.	rs117109847	.	.	0.0448505	0.0407	0.00938498	.	0.00235746	274024	0.03168602	18778	0.02739992	0.01940035	0.0003,0	1.6377	.	.	.	.	.	.	.	.	.	0.898	0.587	.	2.93	.	VDB=0.474619;SGB=-0.692976;RPB=0.93087;MQB=0.00711577;MQSB=0.357187;BQB=0.920759;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=99;DP4=16,33,12,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:55:.:.	0/0:63:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:52:.:.	0/0:50:.:.	0/1:75:255,0,255:49,26	C	T	0	1	Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive	.	.	.	18843291|18445049|17273967|11696548|21097670|9450882|10373424|9083044|16838070|12032844|14638864|11290548|20657595|19389929|10500122|12207612|9925927	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LABYRINTHINE_LAYER_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_NEURAL_TUBE_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_CELL_DIFFERENTIATION_INVOLVED_IN_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_KERATINOCYTE_DIFFERENTIATION;GO_TUBE_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_EMBRYONIC_MORPHOGENESIS;GO_EPIDERMIS_DEVELOPMENT;GO_BRANCHING_INVOLVED_IN_LABYRINTHINE_LAYER_MORPHOGENESIS;GO_TUBE_FORMATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_TUBE_MORPHOGENESIS;GO_NEURAL_TUBE_FORMATION;GO_PLACENTA_DEVELOPMENT;GO_REPRODUCTION;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_MORPHOGENESIS;GO_TISSUE_DEVELOPMENT;GO_PROTEOLYSIS	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_PLASMA_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_MEMBRANE_REGION;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000149418-ST14/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	colon: 103.4	.	.	BS1
H	11	130297913	.	G	A	222	PASS	ADAMTS8	A disintegrin-like and metalloproteinase with thrombospondin type-1 motif, 8	exonic	NM_007037	.	missense SNV	ADAMTS8:NM_007037:exon1:c.C269T:p.A90V	ENST00000257359.6,ENSG00000134917.9	CpG: 113	11q24.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00001733	115418	.	.	0.00019440	.	.	.	Peptidase M12B, propeptide	0.256,T	0.102,B	0.604,P	1,N	0.136557,U	1.21,L	3.27,T	1.1256	-0.290	-1.167	.	.	0.124146033073	VDB=0.00368442;SGB=-0.693147;RPB=0.925954;MQB=6.246e-10;MQSB=0.970646;BQB=0.999706;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=124;DP4=30,12,38,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:57:.:.	0/0:52:.:.	0/0:54:.:.	0/0:50:.:.	0/0:50:.:.	0/1:90:255,0,255:42,48	G	A	0	1	A disintegrin-like and metalloproteinase with thrombospondin type-1 motif, 8, 605175	.	.	.	10610729|10438512	GO_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_PHOSPHATE_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX	GO_PEPTIDASE_ACTIVITY;GO_SULFUR_COMPOUND_BINDING;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HEPARIN_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_INTEGRIN_BINDING;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Strong cytoplasmic positivity in plasma and extracellular matrix was observed. Most remaining tissues were negative.	http://www.proteinatlas.org/ENSG00000134917-ADAMTS8/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 6.0	.	.	PM1, PM2
L	11	130779904	rs11222388	T	A	116	PASS	SNX19	.	splicing	NM_001301089,NM_001347919,NM_001347920,NM_001347921,NM_001347922,NM_001347923,NM_001347925,NM_001347926,NM_001347927,NM_014758	NM_001301089:exon4:c.174+9A>T;NM_001347919:exon4:c.2034+9A>T;NM_001347920:exon4:c.2034+9A>T;NM_001347921:exon4:c.2034+9A>T;NM_001347922:exon5:c.363+9A>T;NM_001347923:exon4:c.309+9A>T;NM_001347925:exon4:UTR5;NM_001347926:exon4:c.174+9A>T;NM_001347927:exon3:UTR5;NM_014758:exon4:c.2034+9A>T	.	.	ENST00000533318.5,ENSG00000120451.10,ENST00000533214.1,ENST00000524460.1,ENST00000528555.5,ENST00000265909.8,ENST00000530356.5	.	11q24.3	.	.	.	.	.	rs11222388	.	.	0.0481728	0.0536	0.0251597	0.0009	0.01136364	277024	0.04644258	18862	0.04242896	0.04049296	.	0.0704	.	.	.	.	.	.	.	.	.	-0.693	0.075	.	.	.	VDB=0.0202394;SGB=-0.662043;RPB=0.658478;MQB=0.513417;BQB=0.928603;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=47;DP4=20,0,26,0;MinDP=6;AN=18;AC=3	GT:DP:PL:AD	0/0:10:.:.	0/1:17:139,0,133:8,9	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:6:.:.	0/1:12:131,0,103:5,7	0/0:10:.:.	0/1:17:149,0,121:7,10	T	A	0	3	.	.	.	.	.	GO_CARTILAGE_DEVELOPMENT;GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_VESICLE_ORGANIZATION;GO_PROTEIN_SECRETION;GO_INSULIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_HORMONE_TRANSPORT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_PEPTIDE_SECRETION;GO_VESICLE_MEDIATED_TRANSPORT;GO_SECRETION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CHONDROCYTE_DIFFERENTIATION;GO_SIGNAL_RELEASE;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_PROTEIN_LOCALIZATION;GO_EXOCYTOSIS;GO_TISSUE_DEVELOPMENT;GO_PEPTIDE_TRANSPORT	GO_VESICLE_MEMBRANE;GO_VACUOLE;GO_EARLY_ENDOSOME_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_VACUOLAR_PART;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOSOMAL_PART;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Moderate cytoplasmic positivity was observed in stomach, intestine, hepatocytes and testis. Subsets of renal tubules and trophoblasts showed strong cytoplasmic staining whereas strong nuclear staining was observed in glial cells of hippocampus. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000120451-SNX19/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 32.6	mitochondria	.	BS1
L	11	134113040	rs201415664	G	A	222	PASS	VPS26B	Vacuolar protein sorting 26, yeast, homolog of, B	exonic	NM_052875	.	synonymous SNV	VPS26B:NM_052875:exon4:c.G573A:p.G191G	ENSG00000151502.10,ENST00000530402.1,ENST00000527586.1,ENST00000281187.9,ENST00000525918.1,ENST00000525095.2	.	11q25	.	.	.	.	.	rs201415664	.	.	0.00498339	0.006	0.00119808	.	0.00033907	277226	0.00476948	18870	0.00408084	0.00440141	.	0.1350	.	.	.	.	.	.	.	.	.	0.271	-0.186	1.071393,11.06	.	.	VDB=0.323572;SGB=-0.692831;RPB=0.113048;MQB=7.00708e-06;MQSB=0.978352;BQB=0.959519;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=49;DP4=10,4,17,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:38:255,0,239:14,24	G	A	0	1	Vacuolar protein sorting 26, yeast, homolog of, B, 610027	.	.	.	16190980	GO_REGULATION_OF_AUTOPHAGY;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_LOCALIZATION;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CYTOSOLIC_TRANSPORT	GO_RETROMER_COMPLEX;GO_VACUOLE;GO_LATE_ENDOSOME;GO_MEMBRANE_PROTEIN_COMPLEX;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_PROTEIN_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	the small intestine, gall bladder, renal tubules and epididymis displayed strong membranous positivity while the adrenal cortex showed strong cytoplasmic staining. Moderate staining was observed in gastric parietal cells, subsets of cells in exocrine pancreas, thyroid, testis and prostate. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000151502-VPS26B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 30.1	.	.	BP7
L-	12	208351	rs140569439	C	T	222	PASS	IQSEC3	IQ motif- and SEC7 domain-containing protein 3	exonic	NM_001170738	.	synonymous SNV	IQSEC3:NM_001170738:exon2:c.C594T:p.A198A	ENSG00000120645.11,ENST00000538872.5,ENST00000382841.2	.	12p13.33	.	.	.	.	.	rs140569439	.	.	0	.	0.000199681	.	0.00019309	264128	.	.	.	.	.	-4.4450	.	.	.	.	.	.	.	.	.	-1.793	-1.035	2.020068,16.34	.	.	VDB=0.245086;SGB=-0.693147;RPB=0.289247;MQB=2.52324e-20;MQSB=0.997276;BQB=0.853659;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=185;DP4=60,17,43,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:134:255,0,255:77,57	C	T	0	1	IQ motif- and SEC7 domain-containing protein 3, 612118	.	.	.	17981261|10470851	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_ARF_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_POSTSYNAPSE;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_INHIBITORY_SYNAPSE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE	GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ARF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	KEGG_ENDOCYTOSIS	.	.	.	.	http://www.proteinatlas.org/ENSG00000120645-IQSEC3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 3.5	.	.	BP7, PM2
L	12	994971	rs187067527	C	T	222	PASS	WNK1	WNK lysine deficient protein kinase 1	exonic	NM_001184985,NM_014823,NM_018979,NM_213655	.	synonymous SNV	WNK1:NM_014823:exon17:c.C4260T:p.S1420S,WNK1:NM_001184985:exon19:c.C5781T:p.S1927S,WNK1:NM_018979:exon19:c.C5001T:p.S1667S,WNK1:NM_213655:exon19:c.C5757T:p.S1919S	ENST00000340908.8,ENST00000535572.5,ENSG00000060237.16,ENST00000315939.10,ENST00000530271.6,ENST00000537687.5	.	12p13.33	.	.	Score=814;Name=V$FREAC4_01	.	.	rs187067527	.	.	0.00664452	0.005	0.000998403	.	0.00031033	277122	0.00397541	18866	0.00544112	0.00528169	.	-0.0052	.	.	.	.	.	.	.	.	.	-0.152	-0.118	.	.	.	VDB=0.536548;SGB=-0.693141;RPB=0.995076;MQB=2.54064e-07;MQSB=1;BQB=0.997809;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=81;DP4=19,9,24,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:65:255,0,255:28,37	C	T	0	1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant	.	.	.	16832045|12522152|16946995|16534117|14645531|10869238|17380208|15060842|15350218|15883153|10660600|9205841|15455397|15911806|18580052|18521183|8528245|16636245|16709664|11498583|12374799|10828064|16006511|12671053|17194447|17975670|15841204|14610273|22934535	GO_NEURON_DEVELOPMENT;GO_ION_TRANSPORT;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_PEPTIDYL_THREONINE_MODIFICATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_NEUROGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_REGULATION_OF_DIGESTIVE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_DEPHOSPHORYLATION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_BLOOD_PRESSURE;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DIGESTIVE_SYSTEM_PROCESS;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_CELL_DEVELOPMENT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY	.	GO_MAGNESIUM_ION_BINDING;GO_KINASE_INHIBITOR_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_REGULATOR_ACTIVITY;GO_CHANNEL_REGULATOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_INHIBITOR_ACTIVITY;GO_PHOSPHATASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_CHANNEL_INHIBITOR_ACTIVITY;GO_ENZYME_INHIBITOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_CHLORIDE_CHANNEL_REGULATOR_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000060237-WNK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 72.2	cytoplasm	.	BP7
H	12	4758299	rs201653293	G	A	222	PASS	NDUFA9	NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 9	exonic	NM_005002	.	missense SNV	NDUFA9:NM_005002:exon1:c.G7A:p.A3T	ENSG00000272921.1,ENST00000539573.5,ENST00000536588.1,ENST00000544679.1,ENST00000266544.9,ENST00000396655.6,ENSG00000139180.10,ENST00000542369.5	CpG: 23	12p13.32	.	.	Score=841;Name=V$TAL1BETAITF2_01	.	.	rs201653293	.	.	0.00332226	0.003	0.000599042	.	0.00007576	224406	0.00104744	16230	0.00038865	0.00176056	.	.	.	0.0,D	0.722,P	0.993,D	0.915472,D	0.037635,N	2.405,M	-1.2,T	13.0108	1.366	3.215	4.217731,23.9	3.95	0.0680551300646	VDB=0.0156799;SGB=-0.693147;RPB=0.960595;MQB=1.87088e-13;MQSB=0.827103;BQB=0.380347;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=135;DP4=17,28,30,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:108:.:.	0/0:101:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:101:.:.	0/1:101:255,0,255:45,56	G	A	0	1	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial	.	.	.	8486360|1832859|22114105	GO_ION_TRANSPORT;GO_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_BIOGENESIS;GO_METAL_ION_TRANSPORT;GO_COFACTOR_METABOLIC_PROCESS;GO_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CELLULAR_KETONE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CATION_TRANSPORT;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_CELLULAR_RESPIRATION;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_OXIDATIVE_PHOSPHORYLATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_ELECTRON_TRANSPORT_CHAIN;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_COENZYME_BIOSYNTHETIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_KETONE_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_UBIQUINONE_METABOLIC_PROCESS;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PHOSPHORYLATION;GO_SODIUM_ION_TRANSPORT;GO_COFACTOR_BIOSYNTHETIC_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_QUINONE_METABOLIC_PROCESS	GO_OXIDOREDUCTASE_COMPLEX;GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_RESPIRATORY_CHAIN;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NADH_DEHYDROGENASE_COMPLEX;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_MITOCHONDRIAL_PROTEIN_COMPLEX	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H;GO_PROTEIN_COMPLEX_BINDING;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_QUINONE_OR_SIMILAR_COMPOUND_AS_ACCEPTOR;GO_OXIDOREDUCTASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_COENZYME_BINDING	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	.	http://www.proteinatlas.org/ENSG00000139180-NDUFA9/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 28.0	nucleus but not nucleoli; mitochondria	.	PM2, PP3
H	12	5687524	rs79300954	G	A	184	PASS	ANO2	Anoctamin 2	splicing	NM_001278596,NM_001278597	NM_001278596:exon22:c.2401+8C>T;NM_001278597:exon22:c.2389+8C>T	.	.	ENST00000327087.12,ENSG00000047617.14,ENST00000356134.9,ENST00000546188.5	.	12p13.31	.	.	.	.	.	rs79300954	.	.	0.0249169	0.0218	0.00479233	8.2e-05	0.00164546	275910	0.02200658	18858	0.01884959	0.01936620	0.0001,0	0.1028	.	.	.	.	.	.	.	.	.	0.249	-0.270	.	.	.	VDB=0.00543907;SGB=-0.691153;RPB=0.818;MQB=6.98033e-07;MQSB=0.990403;BQB=0.471945;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=46;DP4=19,2,16,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:39:217,0,255:21,18	G	A	0	1	Anoctamin 2, 610109	.	.	.	19015192|12739008|19561302	GO_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CHLORIDE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT	GO_CHLORIDE_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_PRIMARY_CILIUM;GO_CILIUM	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CHANNEL_ACTIVITY;GO_INTRACELLULAR_CALCIUM_ACTIVATED_CHLORIDE_CHANNEL_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_ION_GATED_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	RNA data suggests expression in several tissues types, including testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000047617-ANO2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 4.0	plasma membrane; nucleus but not nucleoli	.	.
M	12	6636189	rs764641749	G	A	222	PASS	NCAPD2	Non-SMC condensin I complex subunit D2	exonic	NM_014865	.	missense SNV	NCAPD2:NM_014865:exon22:c.G2867A:p.R956Q	ENSG00000010292.12,ENST00000315579.9,ENST00000539084.5,ENST00000542492.1,ENST00000382457.8	.	12p13.31	.	.	.	.	.	rs764641749	.	.	.	.	.	.	0.00002531	276518	.	.	.	.	.	-0.3921	.	0.314,T	0.006,B	0.007,B	1,N	0.023248,N	0.67,N	-2.91,D	8.8311	0.342	0.133	.	2.56	0.0263191517954	VDB=0.322866;SGB=-0.692914;RPB=0.860308;MQB=1.62423e-10;MQSB=0.829482;BQB=0.434355;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=102;DP4=33,16,20,5;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/1:74:255,0,255:49,25	G	A	0	1	Non-SMC condensin I complex subunit D2, 615638	.	.	.	8590280|10958694	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_CELL_DIVISION;GO_CHROMOSOME_CONDENSATION;GO_CHROMOSOME_SEPARATION;GO_MITOTIC_SISTER_CHROMATID_SEGREGATION;GO_DNA_CONFORMATION_CHANGE;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_SISTER_CHROMATID_SEGREGATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_REPRODUCTION;GO_DNA_PACKAGING;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_MITOTIC_CHROMOSOME_CONDENSATION	GO_CHROMOSOME;GO_CONDENSED_NUCLEAR_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_CHROMOSOME;GO_CONDENSED_CHROMOSOME_CENTROMERIC_REGION;GO_DNA_PACKAGING_COMPLEX;GO_CONDENSED_CHROMOSOME	GO_HISTONE_BINDING;GO_CHROMATIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_AURORA_B_PATHWAY	BIOCARTA_AKAP95_PATHWAY	.	General nuclear expression with additional cytoplasmic expression in a few cases, most abundant in reaction center cells of lymphoid tissues.	http://www.proteinatlas.org/ENSG00000010292-NCAPD2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 22.7	nucleus; cytoplasm	.	PM2
H	12	6666243	rs557643802	C	CA	222	PASS	NOP2	.	exonic	NM_001033714,NM_001258308,NM_001258309,NM_006170	.	frameshift insertion	NOP2:NM_001033714:exon16:c.2342dupT:p.V781fs,NOP2:NM_001258308:exon16:c.2354dupT:p.V785fs,NOP2:NM_006170:exon16:c.2342dupT:p.V781fs,NOP2:NM_001258309:exon17:c.2453dupT:p.V818fs	ENST00000399466.6,ENSG00000111641.11,ENST00000537442.5,ENST00000545200.5,ENST00000620535.4,ENST00000382421.7,ENST00000322166.9,ENST00000541778.5	.	12p13.31	.	.	.	.	.	rs557643802	.	.	0.00332226	0.002	0.00379393	.	0.00165245	277164	0.00604134	18870	0.00330354	0.00264085	.	.	.	.	.	.	.	.	.	.	.	.	.	3.532645,18.03	.	.	INDEL;VDB=0.0378119;SGB=-0.693147;MQSB=0.986998;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=125;DP4=26,31,23,23;IDV=56;IMF=0.448;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:68:.:.	0/1:103:255,0,255:57,46	C	CA	0	1	.	.	.	.	.	GO_RIBOSOME_BIOGENESIS;GO_RRNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_METHYLATION;GO_REGULATION_OF_CELL_PROLIFERATION	GO_NUCLEOLUS	GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_RNA_BINDING	.	.	.	.	General nucleolar expression.	http://www.proteinatlas.org/ENSG00000111641-NOP2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 29.4	nucleoli	.	.
L-	12	7045891	rs797045323	A	ACAGCAG	228	PASS	ATN1	Atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAG:p.Q487delinsQQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAG:p.Q487delinsQQQ	ENST00000396684.2,ENSG00000111676.14,ENST00000356654.8	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	rs797045323	Uncertain significance;not_specified;RCV000194694.1;MedGen;CN169374	.	.	.	.	.	.	.	.	.	0.13967136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.021289,0.231	.	.	INDEL;VDB=2.03547e-13;SGB=-0.693147;MQSB=0.804008;MQ0F=0;MQ=49;ICB=1;HOB=0.5;DP=1607;DP4=149,52,507,306;IDV=184;IMF=0.71875;AN=18;AC=3	GT:PL:DP:AD	0/0:255,.,.:103:0,.	0/0:255,.,.:163:83,.	0/0:255,.,.:191:0,.	4/4:255,.,.,.,.,.,.,.,.,.,255,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:142:2,.,.,.,124,.,.,.,.	0/0:255,.,.:57:4,.	0/0:255,.,.:102:49,.	0/0:255,.,.:36:8,.	0/0:255,.,.:113:51,.	8/4:255,.,.,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,.,.,.,255:107:4,.,.,.,45,.,.,.,57	ACAGCAGCAGCAGCAG	ACAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAG	1	1	Dentatorubro-pallidoluysian atrophy, 125370 (3), Autosomal dominant	.	.	.	7981699|8638101|8612237|7996992|7951323|8644735|8136840|7824105|8325628|16713569|12165555|14512972|8136826|7868125|12812981|7485154|9070948|8929958|8612215|8005597|7477999|19039037|9887337|8541849|8786114|9949204|9647693|7647802|11792320	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_APOPTOTIC_PROCESS;GO_NEURON_DEATH;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_JUNCTION;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY	GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000111676-ATN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 92.3	nucleus but not nucleoli	.	BP3
L-	12	7045891	.	A	ACAG	228	PASS	ATN1	Atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAG:p.Q487delinsQQ,ATN1:NM_001940:exon5:c.1461_1462insCAG:p.Q487delinsQQ	ENSG00000111676.14,ENST00000396684.2,ENST00000356654.8	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.08215962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.994995,0.268	.	.	INDEL;VDB=2.03547e-13;SGB=-0.693147;MQSB=0.804008;MQ0F=0;MQ=49;ICB=1;HOB=0.5;DP=1607;DP4=149,52,507,306;IDV=184;IMF=0.71875;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:103:0,.	0/0:255,.,.:163:83,.	0/0:255,.,.:191:0,.	0/0:255,.,.:142:2,.	0/0:255,.,.:57:4,.	0/0:255,.,.:102:49,.	0/0:255,.,.:36:8,.	0/0:255,.,.:113:51,.	8/4:255,.,.,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,.,.,.,255:107:4,.,.,.,45,.,.,.,57	ACAGCAGCAGCAGCAG	ACAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAG	0	1	Dentatorubro-pallidoluysian atrophy, 125370 (3), Autosomal dominant	.	.	.	7981699|8638101|8612237|7996992|7951323|8644735|8136840|7824105|8325628|16713569|12165555|14512972|8136826|7868125|12812981|7485154|9070948|8929958|8612215|8005597|7477999|19039037|9887337|8541849|8786114|9949204|9647693|7647802|11792320	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_APOPTOTIC_PROCESS;GO_NEURON_DEATH;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_JUNCTION;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY	GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000111676-ATN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 92.3	nucleus but not nucleoli	.	BP3
H	12	7521563	rs59576617	T	TGA	73	PASS	CD163L1	.	splicing	NM_001297650,NM_174941	NM_001297650:exon16:c.4070-2->TC;NM_174941:exon16:c.4040-2->TC	.	.	ENST00000539726.5,ENST00000313599.7,ENST00000546182.1,ENST00000545597.1,ENST00000416109.2,ENSG00000177675.8	.	12p13.31	.	.	.	.	.	rs59576617	.	.	.	.	.	.	0.01411636	175116	0.01105976	12116	0.01187995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407698,6.214	.	.	INDEL;VDB=0.295187;SGB=-0.616816;MQSB=0.964642;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=48;DP4=8,15,7,9;IDV=7;IMF=0.5;MinDP=5;AN=14;AC=1	GT:PL:DP:AD	0/0:106,.,.:11:5,.	0/0:.:10:.	./.:.:.:.	0/0:66,.,.:15:11,.	0/0:.:5:.	0/0:.:10:.	0/0:.:10:.	./.:.:.:.	0/2:84,.,.,0,.,180:13:7,.,3	TGA	T,TGAGA	0	1	.	.	.	.	.	GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_XENOPHAGY;GO_VESICLE_MEDIATED_TRANSPORT;GO_MACROAUTOPHAGY;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AUTOPHAGY;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_MACROMITOPHAGY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_ENDOCYTOSIS;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ORGANELLE_DISASSEMBLY	.	GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	High cytoplasmic expression in a subset of lymphoid cells.	http://www.proteinatlas.org/ENSG00000177675-CD163L1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	rectum: 16.9	nucleus but not nucleoli; cytoplasm; centrosome	.	.
H	12	10782097	rs34981955	G	A	154	PASS	STYK1	Serine/threonine/tyrosine kinase 1	exonic	NM_018423	.	missense SNV	STYK1:NM_018423:exon6:c.C628T:p.R210W	ENST00000542924.1,ENSG00000060140.8,ENST00000075503.7	.	12p13.2	.	.	.	.	.	rs34981955	.	.	0.00166113	0.002	0.000399361	.	0.00023121	276802	0.00275950	18844	0.00194401	0.00088028	.	-0.2357	Protein kinase domain;Protein kinase-like domain;Serine-threonine/tyrosine-protein kinase catalytic domain	0.0,D	1.0,D	1.0,D	0.999999,D	0.000032,D	2.895,M	-0.49,T	17.4122	2.782	4.691	7.744643,35	5.58	0.0962467837034	VDB=0.267433;SGB=-0.689466;RPB=0.163449;MQB=8.83876e-06;MQSB=0.828109;BQB=0.861289;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=37;DP4=14,2,15,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:31:.:.	0/0:10:.:.	0/0:10:.:.	0/1:32:187,0,223:16,16	G	A	0	1	Serine/threonine/tyrosine kinase 1, 611433	.	.	.	17298854|15150103	GO_IMMUNE_SYSTEM_PROCESS;GO_DEFENSE_RESPONSE;GO_CELL_MOTILITY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_INNATE_IMMUNE_RESPONSE;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_IMMUNE_RESPONSE;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_PEPTIDYL_TYROSINE_AUTOPHOSPHORYLATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELL_PROLIFERATION	GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_SIDE_OF_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic and membranous expression in several tissues.	http://www.proteinatlas.org/ENSG00000060140-STYK1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	rectum: 11.7	.	.	PM1, PM2, PP3
H	12	11139305	rs142843602	G	A	222	PASS	TAS2R50	Taste receptor, type 2, member 50	exonic	NM_176890	.	missense SNV	TAS2R50:NM_176890:exon1:c.C155T:p.A52V	ENST00000381852.4,ENSG00000111215.11,ENST00000535024.5,ENSG00000212127.5,ENSG00000212126.3,ENSG00000275778.1,ENST00000506868.1,ENST00000536668.2,ENST00000536086.2,ENST00000539853.5,ENST00000541977.5,ENSG00000231887.6,ENST00000534923.1	.	12p13.2	.	.	.	.	.	rs142843602	.	.	0.0149502	0.0258	0.00539137	7.7e-05	0.00203633	275496	0.02623178	18794	0.01574650	0.01144366	.	.	.	0.102,T	0.678,P	0.983,D	1,N	0.023231,U	2.235,M	0.47,T	4.5161	0.232	-0.343	2.590623,20.1	.	.	VDB=0.134995;SGB=-0.693097;RPB=0.839286;MQB=5.9893e-11;MQSB=0.407576;BQB=0.822276;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=88;DP4=22,12,14,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:48:.:.	0/0:50:.:.	0/0:50:.:.	0/0:48:.:.	0/0:32:.:.	0/0:50:.:.	0/1:64:255,0,255:34,30	G	A	0	1	Taste receptor, type 2, member 50, 609627	.	.	.	12584440|16175505	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE;GO_SENSORY_PERCEPTION_OF_TASTE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_BITTER_TASTE_RECEPTOR_ACTIVITY;GO_TASTE_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_TASTE_TRANSDUCTION	.	.	.	.	http://www.proteinatlas.org/ENSG00000212126-TAS2R50/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	.
L	12	11506408	rs113518684	C	T	150	PASS	PRB1	Proline-rich protein BstNI, subfamily-1	exonic	NM_005039	.	unknown	UNKNOWN	ENST00000240636.10,ENST00000546254.3,ENSG00000251655.6,ENST00000500254.6,ENST00000545626.5	.	12p13.2	.	.	.	Score=0.943926;Name=chr12:11542977	.	rs113518684	.	.	.	.	.	.	0.00381004	73490	0.00217470	5518	0.15070093	0.04618117	.	1.8797	.	.	.	.	.	.	.	.	.	-1.705	-1.772	.	.	.	VDB=1.37739e-06;SGB=-0.693147;RPB=8.19657e-16;MQB=1.26838e-08;MQSB=1.17971e-06;BQB=0.931097;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=992;DP4=223,258,182,53;MinDP=5;AN=18;AC=4	GT:DP:PL:AD	0/0:54:.:.	0/1:137:183,0,255:84,53	0/1:156:145,0,255:107,48	0/0:31:.:.	0/0:19:.:.	0/1:119:129,0,255:82,37	0/0:11:.:.	0/0:5:.:.	0/1:304:111,0,255:208,95	C	T	0	4	Proline-rich protein BstNI, subfamily-1, 180989	.	.	.	6089212|7437007|3055850|6529438|877561|540000|6924859|8422499|7295289|7395868|752561	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000251655-PRB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	bone marrow: 0.9	.	.	BS1
H	12	12397399	rs199693693	T	A	222	PASS	LRP6	Low density lipoprotein receptor-related protein 6	exonic	NM_002336	.	missense SNV	LRP6:NM_002336:exon2:c.A246T:p.K82N	ENST00000535731.1,ENST00000261349.8,ENST00000543091.1,ENSG00000070018.8	.	12p13.2	.	.	.	.	.	rs199693693	.	.	0.00498339	0.005	0.000998403	.	0.00029942	277198	0.00418698	18868	0.00310921	0.00176056	.	-0.1500	Six-bladed beta-propeller, TolB-like	0.106,T	0.026,B	0.04,B	0.999426,D	0.002631,U	0.525,N	-2.72,D	11.1727	0.956	2.649	2.172046,17.33	4.43	0.0781340551188	VDB=0.18051;SGB=-0.693079;RPB=0.591384;MQB=1.44932e-08;MQSB=0.98873;BQB=0.923907;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=27,8,22,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:64:255,0,255:35,28	T	A	0	1	{Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant	.	Coronary artery disease(CM141082)	AAA-AAT|Lys82Asn|c.246A>T|p.K82N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=24427284&amp;dopt=Abstract)	24427284|17569865|9704021|16126904|10545599|24506864|20843827|23579495|15469977|17332414|11357136|26387593|18772438|11029008|15908424|23703864|26489464|11029007|18981475|11029006|16564009|16890161|16341017	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_HINDBRAIN_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_BODY_MORPHOGENESIS;GO_METENCEPHALON_DEVELOPMENT;GO_AXIS_SPECIFICATION;GO_CHEMICAL_HOMEOSTASIS;GO_CARTILAGE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_TISSUE_MORPHOGENESIS;GO_PRIMITIVE_STREAK_FORMATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_CELL_CELL_SIGNALING;GO_HOMEOSTATIC_PROCESS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEURAL_TUBE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CARTILAGE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_GASTRULATION_WITH_MOUTH_FORMING_SECOND;GO_WNT_SIGNALING_PATHWAY;GO_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_CLEARANCE;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_CELL_CELL_ADHESION;GO_BETA_CATENIN_DESTRUCTION_COMPLEX_DISASSEMBLY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_PALATE_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_DISASSEMBLY;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE;GO_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_ROSTROCAUDAL_NEURAL_TUBE_PATTERNING;GO_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_RESPONSE_TO_STEROL;GO_CELL_PROLIFERATION;GO_RESPONSE_TO_HORMONE;GO_EMBRYONIC_PATTERN_SPECIFICATION;GO_SOMITOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MIDBRAIN_DEVELOPMENT;GO_MORPHOGENESIS_OF_AN_EPITHELIAL_SHEET;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PALLIUM_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_FACE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SEGMENTATION;GO_GASTRULATION;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_CHOLESTEROL;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_TRACHEA_DEVELOPMENT;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_GROWTH;GO_EMBRYONIC_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYNAPTIC_SIGNALING;GO_RESPONSE_TO_LIPID;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_TOXIN_TRANSPORT;GO_CELLULAR_RESPONSE_TO_STEROL;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_HEAD_DEVELOPMENT;GO_TUBE_FORMATION;GO_SEX_DIFFERENTIATION;GO_TRACHEA_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_DIENCEPHALON_DEVELOPMENT;GO_PERICARDIUM_DEVELOPMENT;GO_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_HINDBRAIN_MORPHOGENESIS;GO_THALAMUS_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_EYE_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_MESENCHYME_DEVELOPMENT;GO_ANTERIOR_POSTERIOR_AXIS_SPECIFICATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CONVERGENT_EXTENSION;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_PROTEIN_LOCALIZATION;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_STEROL_TRANSPORT;GO_INTRACELLULAR_LIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_STEM_CELL_DIFFERENTIATION;GO_DOPAMINERGIC_NEURON_DIFFERENTIATION;GO_NEURON_DIFFERENTIATION;GO_NEURAL_TUBE_FORMATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_DORSAL_VENTRAL_AXIS_SPECIFICATION;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS;GO_LIPID_LOCALIZATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_REPRODUCTION;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_GENITALIA_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_SOMITE_DEVELOPMENT;GO_RESPONSE_TO_ALCOHOL;GO_CELLULAR_HOMEOSTASIS;GO_AXIS_ELONGATION;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_BIOLOGICAL_ADHESION;GO_NEURAL_TUBE_PATTERNING;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEURAL_CREST_CELL_DIFFERENTIATION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_DEVELOPMENTAL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ODONTOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EYE_MORPHOGENESIS;GO_HEAD_MORPHOGENESIS	GO_VACUOLE;GO_NEURON_PART;GO_EARLY_ENDOSOME_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_MEMBRANE_MICRODOMAIN;GO_MEMBRANE_PROTEIN_COMPLEX;GO_RECEPTOR_COMPLEX;GO_ENDOSOMAL_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_WNT_SIGNALOSOME;GO_SOMATODENDRITIC_COMPARTMENT;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_PLASMA_MEMBRANE_RAFT;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_KINASE_INHIBITOR_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_WNT_PROTEIN_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_KINASE_REGULATOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_IDENTICAL_PROTEIN_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_ENZYME_INHIBITOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_WNT_ACTIVATED_RECEPTOR_ACTIVITY;GO_CORECEPTOR_ACTIVITY;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_APOLIPOPROTEIN_BINDING;GO_FRIZZLED_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_WNT_SIGNALING_PATHWAY	PID_BETA_CATENIN_DEG_PATHWAY;PID_PS1_PATHWAY;PID_WNT_SIGNALING_PATHWAY;PID_WNT_CANONICAL_PATHWAY	.	.	Cytoplasmic expression with granular pattern in all tissues.	http://www.proteinatlas.org/ENSG00000070018-LRP6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 13.2	.	.	PM1, PP5
L	12	21623284	.	C	CAAAA	74	PASS	RECQL	RecQ helicase-like (DNA helicase, RecQ-like 1)	splicing	NM_002907,NM_032941	NM_002907:exon15:c.1798-4->TTTT;NM_032941:exon16:c.1798-4->TTTT	.	.	ENST00000538582.5,ENST00000240651.13,ENST00000421138.6,ENST00000444129.6,ENSG00000004700.15,ENSG00000121350.15	.	12p12.1	.	.	.	Score=0.982853;Name=chr11:106694631	.	.	.	.	.	.	.	.	0.02248669	33442	0.03915911	2426	0.06636471	0.02836879	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.385171,2.191	.	.	INDEL;VDB=0.767306;SGB=-0.689466;MQSB=0.865858;MQ0F=0;MQ=39;DP=93;DP4=4,1,18,23;IDV=18;IMF=0.761905;MinDP=6;AN=12;AC=3	GT:DP:PL:AD	0/0:6:.:.	0/0:10:.:.	0/0:15:.:.	1/2:19:102,44,42,56,.,59:3,8,4	./.:.:.:.	0/0:17:121,.,.:0,.	./.:.:.:.	./.:.:.:.	2/2:10:95,.,.,34,.,28:2,.,4	C	CAAA,CAAAA	1	1	RecQ helicase-like (DNA helicase, RecQ-like 1), 600537	.	.	.	10678659|7961977|7607686	GO_CHROMOSOME_ORGANIZATION;GO_DNA_CONFORMATION_CHANGE;GO_DNA_REPAIR;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_DNA_RECOMBINATION;GO_DNA_GEOMETRIC_CHANGE;GO_RECOMBINATIONAL_REPAIR;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_3_5_DNA_HELICASE_ACTIVITY;GO_ANNEALING_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000004700-RECQL/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 40.6	nucleus but not nucleoli	.	BS1
L	12	21693386	rs147417298	A	G	222	PASS	GYS2	Glycogen synthase-2, liver	exonic	NM_021957	.	synonymous SNV	GYS2:NM_021957:exon14:c.T1767C:p.T589T	ENST00000261195.2,ENSG00000111713.2	.	12p12.1	.	.	.	.	.	rs147417298	.	.	0.00664452	0.0079	0.00159744	7.7e-05	0.00040777	277118	0.00577698	18868	0.00136028	0.00352113	.	0.1700	.	.	.	.	.	.	.	.	.	-1.770	-2.137	.	.	.	VDB=0.226067;SGB=-0.692914;RPB=0.976795;MQB=1.20261e-06;MQSB=0.772114;BQB=0.953215;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=15,8,20,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:23,25	A	G	0	1	Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive	.	.	.	141912|106027|8534634|8188280|9691087|1731614	GO_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_ENERGY_RESERVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_POLYSACCHARIDE_METABOLIC_PROCESS;GO_GLUCAN_METABOLIC_PROCESS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_OXIDATION_REDUCTION_PROCESS;GO_RESPONSE_TO_CARBOHYDRATE;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLUCAN_BIOSYNTHETIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_CELL_CORTEX	GO_CARBOHYDRATE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_GLUCOSE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_IDENTICAL_PROTEIN_BINDING;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY;GO_GLUCOSYLTRANSFERASE_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	Cytoplasmic expression in hepatocytes.	http://www.proteinatlas.org/ENSG00000111713-GYS2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 2.8	.	.	BP7
H	12	26647228	.	G	A	222	PASS	ITPR2	Inositol 1,4,5-triphosphate receptor, type 2	exonic	NM_002223	.	missense SNV	ITPR2:NM_002223:exon39:c.C5228T:p.S1743L	ENST00000543958.1,ENST00000540429.1,ENST00000381340.7,ENSG00000123104.11	.	12p11.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2024	.	0.603,T	0.012,B	0.017,B	0.991649,N	0.448644,N	1.78,L	-2.62,D	7.2467	2.503	1.586	2.405530,18.86	4.53	0.0361164547465	VDB=0.0707169;SGB=-0.693143;RPB=0.673857;MQB=3.97952e-09;MQSB=0.958187;BQB=0.541731;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=15,11,22,16;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:64:255,0,255:26,38	G	A	0	1	?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive	.	.	.	16195467|25329695|22495310|19118385|8081734	GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_ETHANOL;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_CHEMICAL_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_METAL_ION_TRANSPORT;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_HORMONE_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_CELL_ACTIVATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CATION_TRANSPORT;GO_WOUND_HEALING;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_CALCIUM_ION_IMPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_CYTOSOLIC_CALCIUM_ION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_RESPONSE_TO_CAMP;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_CAMP;GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_ETHANOL;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_HOMEOSTASIS;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_INOSITOL_PHOSPHATE_MEDIATED_SIGNALING;GO_RESPONSE_TO_ALCOHOL;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_HEMOSTASIS;GO_CALCIUM_ION_IMPORT_INTO_CYTOSOL;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_SARCOPLASMIC_RETICULUM_MEMBRANE;GO_CYTOPLASMIC_REGION;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_DENSE_TUBULAR_NETWORK;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_SARCOPLASM;GO_RECEPTOR_COMPLEX;GO_CELL_CORTEX;GO_ENDOPLASMIC_RETICULUM	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_LIGAND_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_LONG_TERM_DEPRESSION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE	.	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_ELEVATION_OF_CYTOSOLIC_CA2_LEVELS;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_CALCIUM_HOMEOSTASIS;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_SIGNALING_BY_FGFR	Normal tissues displayed weak to moderate cytoplasmic staining with additional membranous or nuclear positivity in few tissues. Renal tubules, glandular cells of breast, parathyroid and heart muscle cells were strongly stained. Islets of Langerhans, cells in CNS, prostate, soft tissues spleen and lymph node were generally negative.	http://www.proteinatlas.org/ENSG00000123104-ITPR2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	liver: 20.6	.	.	PM2, PP2
L	12	31237519	rs373057083	G	A	222	PASS	DDX11	DEAD/H box-11 (CHL1-related helicase gene-1)	exonic	NM_001257144,NM_001257145,NM_004399,NM_030653,NM_152438	.	synonymous SNV	DDX11:NM_001257144:exon4:c.G396A:p.A132A,DDX11:NM_001257145:exon4:c.G318A:p.A106A,DDX11:NM_004399:exon4:c.G396A:p.A132A,DDX11:NM_030653:exon4:c.G396A:p.A132A,DDX11:NM_152438:exon4:c.G396A:p.A132A	ENST00000542838.5,ENST00000542244.5,ENST00000544652.1,ENST00000538345.1,ENST00000228264.10,ENST00000545668.5,ENST00000543756.5,ENST00000535158.5,ENST00000438391.6,ENST00000536265.5,ENST00000542129.5,ENST00000540935.5,ENSG00000013573.16,ENST00000435753.6,ENST00000535317.5,ENST00000415475.6,ENST00000350437.8,ENST00000539049.5	.	12p11.21	.	.	.	Score=0.978886;Name=chr12:9567144	.	rs373057083	.	.	0	.	0.000599042	7.7e-05	0.00009244	248822	0.00023159	17272	0.00038895	0.00088183	.	-7.3518	.	.	.	.	.	.	.	.	.	0.493	0.357	.	.	.	VDB=8.11932e-05;SGB=-0.693147;RPB=0.0458185;MQB=6.65829e-07;MQSB=0.799145;BQB=0.656462;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=173;DP4=35,30,30,33;MinDP=62;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:62:.:.	0/0:100:.:.	0/0:100:.:.	0/0:99:.:.	0/1:128:255,0,255:65,63	G	A	0	1	Warsaw breakage syndrome, 613398 (3), Autosomal recessive	.	.	.	9013641|8833153|23033317|12421752|8798685|17189189|26089203|20137776|15520935	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_DNA_CONFORMATION_CHANGE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_SISTER_CHROMATID_SEGREGATION;GO_SISTER_CHROMATID_COHESION;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_DNA_GEOMETRIC_CHANGE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MIDBODY;GO_NUCLEOLUS;GO_SPINDLE	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_METAL_CLUSTER_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_SINGLE_STRANDED_DNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_4_IRON_4_SULFUR_CLUSTER_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	General nuclear expression.	http://www.proteinatlas.org/ENSG00000013573-DDX11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 12.9	nucleus; nucleoli	.	BP7, PM2
L	12	31246230	rs371444906	G	T	222	PASS	DDX11	DEAD/H box-11 (CHL1-related helicase gene-1)	exonic	NM_001257144,NM_001257145,NM_004399,NM_030653,NM_152438	.	missense SNV	DDX11:NM_001257144:exon12:c.G1341T:p.L447F,DDX11:NM_001257145:exon12:c.G1263T:p.L421F,DDX11:NM_004399:exon12:c.G1341T:p.L447F,DDX11:NM_030653:exon12:c.G1341T:p.L447F,DDX11:NM_152438:exon12:c.G1341T:p.L447F	ENST00000542838.5,ENST00000538345.1,ENST00000228264.10,ENST00000545668.5,ENST00000536265.5,ENST00000542129.5,ENSG00000013573.16,ENST00000536580.5,ENST00000543026.5,ENST00000435753.6,ENST00000539673.5,ENST00000350437.8,ENST00000539049.5	.	12p11.21	.	.	Score=913;Name=V$MSX1_01	Score=0.978886;Name=chr12:9567144	.	rs371444906	.	.	.	.	.	.	0.00001627	245830	0.00023196	17244	0.00019440	0.00088028	.	-0.2873	Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type;Helicase-like, DEXD box c2 type	0.019,D	0.967,D	0.999,D	1,D	0.015878,N	2.97,M	-0.77,T	10.4529	1.801	2.144	3.939890,23.5	3.52	0.0334172507638	VDB=5.78023e-05;SGB=-0.693147;RPB=0.929016;MQB=5.49577e-12;MQSB=0.0403249;BQB=0.961732;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=464;DP4=130,30,135,29;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:117:.:.	0/0:118:.:.	0/0:120:.:.	0/0:100:.:.	0/0:101:.:.	0/0:103:.:.	0/0:100:.:.	0/1:324:255,0,255:160,164	G	T	0	1	Warsaw breakage syndrome, 613398 (3), Autosomal recessive	.	.	.	9013641|8833153|23033317|12421752|8798685|17189189|26089203|20137776|15520935	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_DNA_CONFORMATION_CHANGE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_SISTER_CHROMATID_SEGREGATION;GO_SISTER_CHROMATID_COHESION;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_DNA_GEOMETRIC_CHANGE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MIDBODY;GO_NUCLEOLUS;GO_SPINDLE	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_METAL_CLUSTER_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_SINGLE_STRANDED_DNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_4_IRON_4_SULFUR_CLUSTER_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	General nuclear expression.	http://www.proteinatlas.org/ENSG00000013573-DDX11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 12.9	nucleus; nucleoli	.	PM1, PM2, PP3
L	12	32754252	rs201915829	C	T	222	PASS	FGD4	FYVE, RhoGEF, and PH domain-containing protein 4	exonic	NM_001304480,NM_001304481,NM_001330373,NM_001330374,NM_139241	.	missense SNV	FGD4:NM_001330373:exon5:c.C452T:p.S151L,FGD4:NM_001330374:exon5:c.C452T:p.S151L,FGD4:NM_001304480:exon6:c.C1067T:p.S356L,FGD4:NM_001304481:exon6:c.C986T:p.S329L,FGD4:NM_139241:exon6:c.C731T:p.S244L	ENST00000531134.5,ENST00000493087.5,ENST00000494977.1,ENST00000525053.5,ENST00000546442.5,ENST00000427716.6,ENSG00000139132.14,ENST00000395740.5,ENST00000551984.5,ENST00000534526.6	.	12p11.21	.	.	.	.	Score=213;Name="968819:MIRb(SINE)"	rs201915829	.	.	0.00498339	0.005	0.000998403	.	0.00016598	277142	0.00106000	18868	0.00038865	.	.	-0.0294	Dbl homology (DH) domain	0.015,D	0.961,D	1.0,D	1,D	0.000736,D	0.665,N	0.17,T	18.18	2.517	7.423	7.332135,34	4.86	0.0292024180976	VDB=0.551556;SGB=-0.692562;RPB=0.718544;MQB=4.39227e-06;MQSB=0.409771;BQB=0.350152;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=6,10,15,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:45:.:.	0/1:38:255,0,255:16,22	C	T	0	1	Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive	.	.	.	15133042|17564959|15744041|19332693|19221294|11527409|11429692|9668039|17564972	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_CELL_SHAPE;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_FILOPODIUM_ASSEMBLY;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_FILOPODIUM;GO_ACTIN_CYTOSKELETON;GO_CYTOSKELETON;GO_LAMELLIPODIUM;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_RUFFLE;GO_GOLGI_APPARATUS;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	Most normal tissues showed moderate cytoplasmic and membranous staining. Cells in seminiferus duct showed strong cytoplasmic staining while gastrointestinal tract exhibited additional membranous positivity. Myocytes and most cells i CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000139132-FGD4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 20.7	cytoskeleton (actin filaments)	.	PM1, PP3
H	12	40879204	.	G	GAC	225	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.32154;SGB=-0.693147;MQSB=0.984926;MQ0F=0;MQ=49;DP=723;DP4=0,0,375,117;IDV=2;IMF=0.00276625;MinDP=307;AN=14;AC=2	GT:DP:PL:AD	0/0:372:.:.	0/0:307:.:.	./.:.:.:.	./.:.:.:.	0/0:348:.:.	0/0:460:.:.	0/0:427:.:.	0/0:482:.:.	1/1:492:255,255,0:0,492	G	GAC	1	0	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	PM2
H	12	40884663	rs199967200	A	ACAACTGGAC	222	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	rs199967200	.	.	.	.	.	.	.	.	.	.	0.00259067	0.11267606	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.172130,0.088	.	.	INDEL;VDB=1.95111e-09;SGB=-0.693147;MQSB=0.129866;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=2705;DP4=591,583,532,530;IDV=297;IMF=0.396639;MinDP=316;AN=18;AC=4	GT:DP:PL:AD	0/0:329:.:.	0/0:481:.:.	0/0:467:.:.	0/1:594:255,0,255:287,307	0/0:316:.:.	0/1:501:255,0,255:263,238	0/1:550:255,0,255:303,247	0/0:417:.:.	0/1:591:255,0,255:321,270	A	ACAACTGGAC	0	4	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	.
H	12	40884664	.	C	CAACTGGACA	222	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=4.47567e-06;SGB=-0.693147;MQSB=0.82204;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=1449;DP4=367,370,274,231;IDV=5;IMF=0.00651042;MinDP=298;AN=18;AC=2	GT:DP:PL:AD	0/0:329:.:.	0/0:481:.:.	0/0:467:.:.	0/1:655:255,0,255:382,273	0/0:316:.:.	0/0:298:.:.	0/0:307:.:.	0/0:417:.:.	0/1:587:255,0,255:355,232	C	CAACTGGACA	0	2	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	PM2
H	12	40884986	rs368749839	A	C	222	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	rs368749839	.	.	.	.	.	.	0.00006466	30932	.	.	0.00086356	.	.	.	.	.	.	.	.	.	.	.	.	-1.825	-2.803	.	.	.	VDB=0.0173025;SGB=-0.693147;RPB=0.891089;MQB=2.25996e-22;MQSB=0.162693;BQB=0.994012;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=573;DP4=130,121,113,94;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:104:.:.	0/0:100:.:.	0/1:458:255,0,255:251,207	A	C	0	1	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	PM2
H	12	40908995	.	C	G	222	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	0.00009691	30958	0.00124844	1602	0.00069541	0.00264085	.	-2.7579	.	.	.	.	.	.	.	.	.	-0.691	-0.938	.	.	.	VDB=0.796854;SGB=-0.692717;RPB=0.105312;MQB=5.52721e-08;MQSB=0.949369;BQB=0.952659;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=126;DP4=33,14,38,13;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:50:255,0,255:27,23	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:48:255,0,255:20,28	C	G	0	2	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	PM2
H	12	40935636	rs376066372	A	G	222	PASS	MUC19	Mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENSG00000205592.13,ENST00000454784.8	.	12q12	.	.	.	.	.	rs376066372	.	.	0.00166113	0.002	0.000399361	.	0.00006465	30936	.	.	0.00038880	.	.	-5.7596	.	.	.	.	.	.	.	.	.	-0.430	0.065	.	.	.	VDB=1.15082e-06;SGB=-0.69311;RPB=0.720156;MQB=0.981562;MQSB=0.962689;BQB=0.214139;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=69;DP4=5,15,17,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:51:.:.	0/1:51:255,0,255:20,31	A	G	0	1	Mucin 19, oligomeric, 612170	.	.	.	12882755	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	.	.	.	.	.	PM2
H	12	48137823	rs767993156	T	C	222	PASS	RAPGEF3	.	exonic	NM_001098531,NM_001098532,NM_006105	.	missense SNV	RAPGEF3:NM_001098532:exon16:c.A1499G:p.N500S,RAPGEF3:NM_001098531:exon17:c.A1625G:p.N542S,RAPGEF3:NM_006105:exon17:c.A1499G:p.N500S	ENST00000449771.6,ENSG00000079337.15,ENST00000482843.5,ENST00000549151.5,ENST00000389212.7,ENST00000395360.6,ENST00000547856.5,ENST00000405493.6,ENST00000479866.5,ENST00000548919.5	.	12q13.11	.	.	.	.	.	rs767993156	.	.	.	.	.	.	0.00003627	275726	0.00042463	18840	0.00019433	.	.	-6.4277	Ras guanine nucleotide exchange factor domain;Ras-like guanine nucleotide exchange factor, N-terminal	0.494,T	0.001,B	0.0,B	0.780517,D	0.102881,N	0.17,N	-0.2,T	6.9328	0.579	0.208	.	.	0.008582345501	VDB=0.0807516;SGB=-0.693144;RPB=0.875872;MQB=1.87288e-10;MQSB=0.43982;BQB=0.611649;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=101;DP4=22,6,23,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:48:.:.	0/1:67:255,0,255:28,39	T	C	0	1	.	.	.	.	.	GO_SPINAL_CORD_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_ENDOTHELIAL_CELL_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_EPITHELIUM_DEVELOPMENT;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_ORGAN_REGENERATION;GO_RESPONSE_TO_ACID_CHEMICAL;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_POSITIVE_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGENERATION;GO_ARTERY_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_RESPONSE_TO_ALKALOID;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_CAMP;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_CELL_PROLIFERATION;GO_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CELLULAR_RESPONSE_TO_CAMP;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_ENDOTHELIUM_DEVELOPMENT;GO_LIVER_REGENERATION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_SIZE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEIN_ACETYLATION;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_NICOTINE;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_AMINO_ACID;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTON_TRANSPORT;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_DRUG;GO_RESPONSE_TO_GROWTH_FACTOR;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_ACETYLATION;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_SIZE;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_ATPASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_ESTABLISHMENT_OF_ENDOTHELIAL_BARRIER;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_CARDIAC_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_METABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_GANGLION_DEVELOPMENT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_GLAND_DEVELOPMENT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_BINDING;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_ATPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_DRUG;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_HISTONE_H3_K9_ACETYLATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CAMP_MEDIATED_SIGNALING;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_FILOPODIUM;GO_BASOLATERAL_PLASMA_MEMBRANE;GO_NEURON_PROJECTION_TERMINUS;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_CORTEX_PART;GO_SITE_OF_POLARIZED_GROWTH;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_AXON;GO_BASAL_PLASMA_MEMBRANE;GO_CORTICAL_CYTOSKELETON;GO_MICROVILLUS;GO_BRUSH_BORDER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_LAMELLIPODIUM;GO_CELL_CORTEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_AXON_PART;GO_BRUSH_BORDER_MEMBRANE;GO_TERMINAL_BOUTON;GO_SYNAPSE_PART;GO_BASAL_PART_OF_CELL	GO_CAMP_BINDING;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_CYCLIC_NUCLEOTIDE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ION_CHANNEL_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_LONG_TERM_POTENTIATION	.	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_RAP1_SIGNALLING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	General cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000079337-RAPGEF3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 25.7	cytoplasm	.	PM1, PM2
L	12	51019802	rs146296554	C	T	219	PASS	DIP2B	Disco-interacting protein 2, Drosophila, homolog of, B	exonic	NM_173602	.	synonymous SNV	DIP2B:NM_173602:exon2:c.C144T:p.L48L	ENST00000301180.9,ENST00000549620.5,ENSG00000066084.12	.	12q13.12	.	.	.	.	.	rs146296554	.	.	0.0232558	0.0218	0.00439297	.	0.00152262	277154	0.02183823	18866	0.02370773	0.02376761	.	-1.3734	.	.	.	.	.	.	.	.	.	0.672	-0.744	1.538912,13.52	.	.	VDB=0.503385;SGB=-0.590765;RPB=0.448332;MQB=0.011109;MQSB=0.586646;BQB=0.980199;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=47;DP4=10,10,10,6;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:131,0,243:14:9,5	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/1:252,0,251:22:11,11	C	T	0	2	Mental retardation, FRA12A type, 136630 (3), Autosomal dominant	.	.	.	10819331|17236128	.	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000066084-DIP2B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 15.9	.	.	BP7
H	12	51237699	rs369846570	G	T	222	PASS	TMPRSS12	.	exonic	NM_182559	.	missense SNV	TMPRSS12:NM_182559:exon2:c.G262T:p.A88S	ENST00000551456.5,ENST00000398458.3,ENSG00000186452.10	.	12q13.12	.	.	Score=763;Name=V$PAX5_02	.	.	rs369846570	.	.	.	.	.	.	0.00009090	231026	0.00120056	15826	0.00077730	0.00088028	.	-0.2134	Peptidase S1;Trypsin-like cysteine/serine peptidase domain	0.077,T	0.298,B	0.488,P	1,N	0.147264,N	0.08,N	0.3,T	4.1262	0.254	1.373	.	.	0.0094812534569	VDB=0.116517;SGB=-0.69168;RPB=0.321446;MQB=9.4291e-07;MQSB=0.403066;BQB=0.976778;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=61;DP4=17,11,9,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:48:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:47:255,0,255:28,19	G	T	0	1	.	.	.	.	.	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000186452-TMPRSS12/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM1, PM2
H	12	51590593	rs77905600	C	T	215	PASS	POU6F1	.	exonic	NM_001330422	.	missense SNV	POU6F1:NM_001330422:exon7:c.G964A:p.A322T	ENSG00000184271.16,ENST00000636068.1,ENST00000636728.1,ENST00000552305.2,ENST00000550824.6,ENST00000547855.1,ENST00000333640.11,ENST00000636119.1,ENST00000389243.9	.	12q13.13	.	.	Score=805;Name=V$CDPCR3_01	.	.	rs77905600	.	.	0.0332226	0.0367	0.00738818	.	0.00224139	277060	0.03127651	18864	0.03361834	0.03961268	.	1.3199	.	0.0,D	0.004,B	0.001,B	0.972298,D	0.977755,N	0.895,L	-2.45,D	8.5106	1.498	2.920	2.975804,22.2	4.05	.	VDB=0.264337;SGB=-0.692067;RPB=0.93925;MQB=7.65699e-06;MQSB=0.973056;BQB=0.987299;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=58;DP4=21,4,18,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:45:248,0,255:25,20	C	T	0	1	.	.	.	.	.	GO_MUSCLE_ORGAN_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_HEART_DEVELOPMENT;GO_HEAD_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT	GO_ACTIN_CYTOSKELETON;GO_CYTOSKELETON	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	General nuclear or nuclear membrane expression.	http://www.proteinatlas.org/ENSG00000184271-POU6F1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 11.7	nucleus; cytoskeleton (actin filaments)	.	BS1
L	12	51636132	.	C	T	222	PASS	DAZAP2	.	exonic	NM_001136264,NM_001136266,NM_001136267,NM_001136268,NM_014764	.	missense SNV	DAZAP2:NM_001136268:exon3:c.C151T:p.P51S,DAZAP2:NM_001136266:exon4:c.C320T:p.P107L,DAZAP2:NM_001136267:exon4:c.C301T:p.P101S,DAZAP2:NM_014764:exon4:c.C397T:p.P133S,DAZAP2:NM_001136264:exon5:c.C331T:p.P111S	ENST00000425012.6,ENST00000549732.6,ENST00000549555.5,ENST00000551313.1,ENST00000604900.5,ENST00000552459.2,ENST00000449723.7,ENSG00000183283.15,ENST00000412716.7,ENST00000439799.6,ENST00000549497.5,ENST00000436900.2,ENST00000551919.5,ENST00000551534.5	.	12q13.13	.	.	.	Score=0.943543;Name=chr2:203064191	.	.	.	.	.	.	.	.	0.00001282	234036	0.00011799	16950	0.00038865	.	.	.	.	0.004,D	0.174,B	0.215,B	1,D	0.000001,D	.	0.83,T	18.4195	2.726	5.204	4.436968,24.2	5.44	0.0697356781398	VDB=0.284755;SGB=-0.69311;RPB=0.962566;MQB=1.5225e-08;MQSB=0.681529;BQB=0.823537;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=77;DP4=22,13,14,17;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:66:255,0,255:35,31	C	T	0	1	.	.	.	.	.	.	.	GO_WW_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000183283-DAZAP2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 281.8	.	.	PM2
L	12	53012255	rs74778340	G	A	222	PASS	KRT73	Keratin 73	exonic	NM_175068	.	synonymous SNV	KRT73:NM_175068:exon1:c.C54T:p.S18S	ENST00000305748.7,ENST00000546934.1,ENSG00000186049.8	.	12q13.13	.	.	.	.	.	rs74778340	.	.	0.00166113	0.001	0.000199681	7.7e-05	0.00007690	273086	0.00090243	18838	0.00194326	0.00176056	.	.	.	.	.	.	.	.	.	.	.	-1.319	-3.389	0.921105,10.20	.	.	VDB=0.00149196;SGB=-0.693139;RPB=0.782076;MQB=5.97705e-11;MQSB=0.794677;BQB=0.861326;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=94;DP4=6,38,9,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:80:255,0,255:44,36	G	A	0	1	Keratin 73, 608247	.	.	.	12648212	GO_MACROAUTOPHAGY;GO_AUTOPHAGY;GO_MITOCHONDRION_ORGANIZATION;GO_MACROMITOPHAGY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ORGANELLE_DISASSEMBLY	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000186049-KRT73/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 1.0	.	.	BP7, PM2
H	12	53164891	rs184808867	T	G	222	PASS	KRT76	Keratin 76, type II	exonic	NM_015848	.	missense SNV	KRT76:NM_015848:exon7:c.A1376C:p.D459A	ENST00000332411.2,ENSG00000185069.2	.	12q13.13	.	.	Score=804;Name=V$XBP1_01	.	.	rs184808867	.	.	0.013289	0.0179	0.00379393	.	0.00096670	277232	0.01409794	18868	0.00524679	0.00352113	.	-0.0137	.	0.088,T	0.173,B	0.21,B	0.975714,D	0.005281,N	0.68,N	-0.86,T	11.1897	1.051	3.510	5.011338,25.1	3.99	.	VDB=0.592862;SGB=-0.693147;RPB=0.920436;MQB=1.06012e-14;MQSB=0.684113;BQB=0.999854;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=164;DP4=51,22,38,16;MinDP=82;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:82:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:127:255,0,255:73,54	T	G	0	1	Keratin 76, type II, 616671	.	.	.	1282112|15737194	GO_EPITHELIUM_DEVELOPMENT;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMIS_DEVELOPMENT;GO_GLAND_DEVELOPMENT;GO_SKIN_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Cytoplasmic expression in mainly keratinized layer of squamous epithelia.	http://www.proteinatlas.org/ENSG00000185069-KRT76/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	.
L	12	53164919	rs190460704	A	G	222	PASS	KRT76	Keratin 76, type II	exonic	NM_015848	.	synonymous SNV	KRT76:NM_015848:exon7:c.T1348C:p.L450L	ENST00000332411.2,ENSG00000185069.2	.	12q13.13	.	.	.	.	.	rs190460704	.	.	0.013289	0.0179	0.00379393	.	0.00096670	277232	0.01409645	18870	0.00524679	0.00352113	.	0.0187	.	.	.	.	.	.	.	.	.	-0.308	0.709	.	.	.	VDB=0.181994;SGB=-0.693147;RPB=0.809541;MQB=1.13163e-16;MQSB=0.235782;BQB=0.638788;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=156;DP4=44,19,31,24;MinDP=99;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:99:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:118:255,0,255:63,55	A	G	0	1	Keratin 76, type II, 616671	.	.	.	1282112|15737194	GO_EPITHELIUM_DEVELOPMENT;GO_CYTOSKELETON_ORGANIZATION;GO_EPIDERMIS_DEVELOPMENT;GO_GLAND_DEVELOPMENT;GO_SKIN_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Cytoplasmic expression in mainly keratinized layer of squamous epithelia.	http://www.proteinatlas.org/ENSG00000185069-KRT76/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP7
L	12	53645645	rs117423151	C	T	222	PASS	MFSD5	.	exonic	NM_001170790	.	synonymous SNV	MFSD5:NM_001170790:exon1:c.C129T:p.C43C	ENST00000534842.1,ENSG00000182544.8,ENST00000546655.1,ENST00000551660.2	.	12q13.13	.	.	.	.	.	rs117423151	.	.	0.00498339	0.0079	0.00179712	.	0.00047004	168070	0.00635193	11650	0.00719005	0.01146384	.	.	.	.	.	.	.	.	.	.	.	-0.450	-0.830	.	.	.	VDB=0.164605;SGB=-0.693132;RPB=0.0499992;MQB=2.88992e-10;MQSB=0.111001;BQB=0.169765;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=254;DP4=47,60,52,33;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:80:255,0,255:46,34	0/0:50:.:.	0/0:52:.:.	0/1:112:255,0,255:61,51	C	T	0	2	.	.	.	.	.	GO_ION_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_ANION_TRANSPORT	.	GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Most normal tissues showed moderate to strong nuclear staining in a fraction of cells. Cells in CNS, lymphoid tissues, lung, kidney and bone marrow were negative.	http://www.proteinatlas.org/ENSG00000182544-MFSD5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 30.6	.	.	BP7
L	12	53680081	rs144484136	G	A	222	PASS	ESPL1	Extra spindle poles-like 1	exonic	NM_012291	.	synonymous SNV	ESPL1:NM_012291:exon18:c.G3561A:p.V1187V	ENST00000535123.6,ENST00000553016.5,ENST00000552462.1,ENST00000552671.5,ENSG00000135476.11,ENST00000257934.8	.	12q13.13	.	.	Score=728;Name=V$NRSF_01	.	.	rs144484136	.	.	0.00498339	0.0079	0.00179712	.	0.00043706	276852	0.00604518	18858	0.00757870	0.01056338	.	0.0035	.	.	.	.	.	.	.	.	.	0.349	0.137	0.929450,10.25	2.5	.	VDB=0.0422934;SGB=-0.693147;RPB=0.528711;MQB=4.29452e-19;MQSB=0.61947;BQB=0.821571;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=343;DP4=71,63,81,59;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:129:255,0,255:62,67	0/0:100:.:.	0/0:100:.:.	0/1:145:255,0,255:72,73	G	A	0	2	Extra spindle poles-like 1, 604143	.	.	.	8724849|14605209|17210788|19345191|17664331|10403247|18728194|10411507	GO_MEIOTIC_CHROMOSOME_SEGREGATION;GO_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION;GO_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MITOTIC_SISTER_CHROMATID_SEPARATION;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_SPINDLE_LOCALIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CHROMOSOME_SEPARATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MITOTIC_SISTER_CHROMATID_SEGREGATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_MEIOSIS_I;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIVISION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_SISTER_CHROMATID_SEGREGATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_MEIOTIC_CHROMOSOME_SEPARATION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_MEIOTIC_CELL_CYCLE;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_HOMOLOGOUS_CHROMOSOME_SEGREGATION;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_CYTOKINESIS;GO_REGULATION_OF_SISTER_CHROMATID_COHESION;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_LOCALIZATION;GO_REPRODUCTION;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_SISTER_CHROMATID_SEGREGATION;GO_CELL_CYCLE_PROCESS;GO_PROTEOLYSIS;GO_NUCLEAR_CHROMOSOME_SEGREGATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_MITOTIC_SPINDLE;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS	.	.	.	Normal tissues demonstrated moderate to strong cytoplasmic and nuclear immunoreactivity.	http://www.proteinatlas.org/ENSG00000135476-ESPL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 6.6	nucleus but not nucleoli; vesicles	.	.
H-	12	54756528	rs77759698	A	G	222	PASS	GPR84	G protein-coupled receptor 84	exonic	NM_020370	.	missense SNV	GPR84:NM_020370:exon2:c.T1108C:p.Y370H	ENST00000550474.5,ENSG00000139572.3,ENSG00000258086.1,ENST00000267015.3,ENST00000551809.1,ENST00000552785.1,ENSG00000258137.5	.	12q13.13	.	.	.	.	.	rs77759698	.	.	0.0431894	0.0347	0.00698882	0.0003	0.00303371	277218	0.03747482	18866	0.04760979	0.03257042	.	.	GPCR, rhodopsin-like, 7TM	0.0,D	1.0,D	1.0,D	0.999998,D	0.000004,D	3.185,M	-3.19,D	13.7267	2.195	8.415	4.964016,25.1	5.43	.	VDB=0.269464;SGB=-0.693147;RPB=0.9994;MQB=9.20049e-12;MQSB=0.295974;BQB=0.903497;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=105;DP4=34,0,40,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:53:.:.	0/1:79:255,0,228:34,45	A	G	0	1	G protein-coupled receptor 84, 606383	.	.	.	11273702	GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEUROPEPTIDE_SIGNALING_PATHWAY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY	.	.	.	.	Astrocytes in CNS as well as a subset of bone marrow poietic cells and cell in red pulp of the spleen displayed strong cytoplasmic positivity. Skin and thyroid showed moderate cytoplasmic immunoreactivity while the remaining normal cells were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000139572-GPR84/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 3.6	.	.	BS1, PM1, PP3
H	12	57424827	.	C	G	202	PASS	MYO1A	Myosin IA	exonic	NM_001256041,NM_005379	.	missense SNV	MYO1A:NM_005379:exon23:c.G2481C:p.W827C,MYO1A:NM_001256041:exon24:c.G2481C:p.W827C	ENST00000554234.5,ENSG00000166866.12,ENST00000442789.6,ENST00000487083.1,ENST00000300119.7,ENST00000477864.1	.	12q13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.9324	.	0.0,D	0.594,P	0.99,D	1,D	0.000000,D	2.925,M	-2.51,D	9.5515	1.929	4.771	5.345733,25.9	3.36	0.384316512518	VDB=0.190654;SGB=-0.693079;RPB=0.999962;MQB=2.5871e-09;MQSB=0.793727;BQB=0.877264;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=70;DP4=23,2,28,1;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:49:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/1:54:235,0,252:25,29	C	G	0	1	Myosin IA, 601478	.	.	.	12736868|24616153|8884266|8689571|19574460|15758024	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_VESICLE_LOCALIZATION;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_CELL_PROJECTION_ASSEMBLY;GO_SYSTEM_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROVILLUS_ORGANIZATION;GO_ORGANELLE_LOCALIZATION	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_SITE_OF_POLARIZED_GROWTH;GO_APICAL_PART_OF_CELL;GO_NEURON_PART;GO_BASAL_PLASMA_MEMBRANE;GO_CORTICAL_CYTOSKELETON;GO_MICROVILLUS;GO_BRUSH_BORDER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_LATERAL_PLASMA_MEMBRANE;GO_MYOSIN_COMPLEX;GO_NEURON_PROJECTION;GO_MEMBRANE_MICRODOMAIN;GO_SUPRAMOLECULAR_FIBER;GO_APICAL_PLASMA_MEMBRANE;GO_CELL_CORTEX;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_ACTIN_FILAMENT;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_BASAL_PART_OF_CELL;GO_PLASMA_MEMBRANE_RAFT;GO_FILAMENTOUS_ACTIN	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_CALMODULIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Most normal cells displayed moderate to strong cytoplasmic staining with a granular pattern. Lymphoid tissue were mainly negative.	http://www.proteinatlas.org/ENSG00000166866-MYO1A/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	stomach: 14.1	.	.	PM2, PP3
L*	12	57592034	rs200885149	C	T	222	PASS	LRP1	Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor)	exonic	NM_002332	.	synonymous SNV	LRP1:NM_002332:exon59:c.C9378T:p.I3126I	ENSG00000123384.13,ENST00000243077.7	.	12q13.3	.	.	Score=770;Name=V$PPARG_01	.	.	rs200885149	.	.	0.00498339	0.003	0.000998403	7.7e-05	0.00012691	275784	0.00090234	18840	0.00116595	.	.	-0.1206	.	.	.	.	.	.	.	.	.	-0.796	-1.315	1.939936,15.83	.	.	VDB=0.949064;SGB=-0.69312;RPB=0.640586;MQB=6.94227e-12;MQSB=0.951558;BQB=0.686461;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=99;DP4=34,8,24,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/1:74:255,0,255:42,32	C	T	0	1	?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive	.	.	.	11290339|9637403|2779654|16040006|11248808|12690199|16601674|20133524|15294142|23033978|1427818|18060043|3266596|1377168|17948131|9633759|11067868|9222170|15744306|26142438|7543026|1702392|9148246|17920016|15456862|11496365|2548950|9349534|12821648|9333264|21676865|10737120|12151109|1698775|15749709|12960961|8506301|14739301	GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_POSITIVE_REGULATION_OF_STEROL_TRANSPORT;GO_APOPTOTIC_CELL_CLEARANCE;GO_ARTERY_DEVELOPMENT;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_LIPID_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_FOREBRAIN_DEVELOPMENT;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_AORTA_DEVELOPMENT;GO_AGING;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_ARTERY_MORPHOGENESIS;GO_PROTEIN_KINASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_TERPENOID_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PALLIUM_DEVELOPMENT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_LIPID_TRANSPORT;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_LIPOPROTEIN_LOCALIZATION;GO_REGULATION_OF_STEROL_TRANSPORT;GO_HEAD_DEVELOPMENT;GO_REGULATION_OF_PHOSPHOLIPASE_A2_ACTIVITY;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_TELENCEPHALON_DEVELOPMENT;GO_REGULATION_OF_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_AORTA_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_PHAGOCYTOSIS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_ISOPRENOID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_VESICLE_MEMBRANE;GO_COATED_PIT;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CLATHRIN_COATED_VESICLE;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_NEURON_PROJECTION;GO_VACUOLAR_PART;GO_RECEPTOR_COMPLEX;GO_ANCHORING_JUNCTION;GO_CYTOPLASMIC_VESICLE_PART;GO_CELL_BODY;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_COATED_VESICLE;GO_SOMATODENDRITIC_COMPARTMENT;GO_LYTIC_VACUOLE_MEMBRANE;GO_NUCLEOLUS;GO_MEMBRANE_REGION;GO_ENDOSOME;GO_DENDRITE;GO_VACUOLAR_MEMBRANE	GO_LIPOPROTEIN_PARTICLE_RECEPTOR_BINDING;GO_CALCIUM_ION_BINDING;GO_PROTEASE_BINDING;GO_PROTEIN_TRANSPORTER_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_RECEPTOR_ACTIVITY;GO_APOLIPOPROTEIN_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	KEGG_ALZHEIMERS_DISEASE	PID_AMB2_NEUTROPHILS_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_PDGFRB_PATHWAY	.	.	Cytoplasmic expression mainly in hepatocytes, placenta, CNS and Leydig cells.	http://www.proteinatlas.org/ENSG00000123384-LRP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 77.6	nucleoli; cytoplasm	.	BP7, PM2
H	12	57906143	.	AC	A	151	PASS	MARS	Methioninyl-tRNA synthetase	splicing	NM_004990	NM_004990:exon14:c.1753+8C>-	.	.	ENST00000628866.2,ENST00000262027.9,ENST00000537638.6,ENST00000548944.1,ENST00000545888.6,ENST00000546971.5,ENST00000548630.1,ENSG00000166986.14,ENST00000549048.1	.	12q13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.192448;SGB=-0.692717;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=47;DP4=5,16,2,21;IDV=22;IMF=0.468085;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:31:.:.	0/1:44:184,0,220:21,23	AC	A	0	1	Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant; Interstitial lung and liver disease, 615486 (3), Autosomal recessive	.	.	.	6585969|23729695|25913036|24354524|8921912|25035493|24482476|24103465	GO_AMINO_ACID_ACTIVATION;GO_TRNA_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	.	GO_TRNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	KEGG_SELENOAMINO_ACID_METABOLISM;KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_CYTOSOLIC_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	Ubiquitous cytoplasmic expression in all tissues with highest levels in neurons and gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000166986-MARS/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 37.2	cytoplasm	.	PM2
M	12	72022747	rs79109432	A	T	222	PASS	ZFC3H1	.	exonic	NM_144982	.	missense SNV	ZFC3H1:NM_144982:exon20:c.T3897A:p.D1299E	ENST00000378743.7,ENSG00000133858.15,ENST00000552994.5	.	12q21.1	.	.	.	.	.	rs79109432	.	.	0.0149502	0.0139	0.00279553	.	0.00056788	276466	0.00813051	18818	0.01224252	0.01056338	.	-0.3740	.	1.0,T	0.001,B	0.0,B	0.867796,N	0.003337,N	0.895,L	1.57,T	2.3581	0.231	0.274	.	.	.	VDB=0.21239;SGB=-0.691153;RPB=0.331344;MQB=0.00358075;MQSB=0.798287;BQB=0.35541;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=39;DP4=7,3,11,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:28:255,0,235:10,18	A	T	0	1	.	.	.	.	.	GO_RNA_PROCESSING	GO_EXTRACELLULAR_SPACE	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous nuclear expression often combined with expression in cytoplasm.	http://www.proteinatlas.org/ENSG00000133858-ZFC3H1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lymph node: 11.6	nucleus	.	BP4
L	12	76424931	.	CTGCTGT	C	46.252	PASS	PHLDA1	Pleckstrin homology-like domain, family A, member 1	exonic	NM_007350	.	nonframeshift deletion	PHLDA1:NM_007350:exon1:c.585_590del:p.195_197del	ENSG00000139289.13,ENST00000619060.1,ENST00000552367.1,ENST00000266671.9,ENSG00000257453.1,ENST00000602540.5	CpG: 154	12q21.2	.	.	.	.	Score=390;Name="1040675:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.06471525	0.02024648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0484525;SGB=-0.590765;MQSB=0.974027;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=480;DP4=27,51,13,6;IDV=3;IMF=0.0247934;MinDP=83;AN=14;AC=3	GT:DP:PL:AD	0/0:83:.:.	0/0:104:.:.	0/1:29:67,0,255:24,5	0/0:102:.:.	0/1:28:81,0,255:23,5	./.:.:.:.	0/0:100:.:.	./.:.:.:.	0/1:40:68,0,255:31,9	CTGCTGT	C	0	3	Pleckstrin homology-like domain, family A, member 1, 605335	.	.	.	12738777|10894922|9417904	GO_CELL_CYCLE_PHASE_TRANSITION;GO_CELL_DEATH;GO_FOREBRAIN_DEVELOPMENT;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_FOREBRAIN_GENERATION_OF_NEURONS;GO_MITOTIC_CELL_CYCLE;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_HEAD_DEVELOPMENT;GO_CELL_CYCLE;GO_REGULATION_OF_CELL_DEATH;GO_NEURON_DIFFERENTIATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELL_CYCLE_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_INTRACELLULAR_VESICLE;GO_NUCLEOLUS	.	.	.	.	.	General cytoplasmic and nuclear expression, most abundant in squamous epithelia, salivary gland and neuronal cells of central nervous system.	http://www.proteinatlas.org/ENSG00000139289-PHLDA1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	salivary gland: 77.3	.	.	BP3
L	12	79747320	rs146053442	C	T	222	PASS	SYT1	Synaptotagmin-1	exonic	NM_001135805,NM_001135806,NM_001291901,NM_005639	.	synonymous SNV	SYT1:NM_001135806:exon8:c.C849T:p.Y283Y,SYT1:NM_001291901:exon8:c.C840T:p.Y280Y,SYT1:NM_005639:exon9:c.C849T:p.Y283Y,SYT1:NM_001135805:exon10:c.C849T:p.Y283Y	ENST00000457153.6,ENSG00000257894.2,ENST00000549559.2,ENST00000552744.5,ENST00000549527.1,ENSG00000067715.13,ENST00000393240.7,ENST00000261205.8	.	12q21.2	.	.	.	.	.	rs146053442	.	.	0.00498339	0.004	0.000798722	.	0.00054832	277208	0.00763278	18866	0.00602410	0.00447227	.	-0.0870	.	.	.	.	1,D	.	.	.	21.9836	-2.498	-0.679	1.515128,13.39	.	.	VDB=0.404355;SGB=-0.693054;RPB=0.379085;MQB=1.26636e-09;MQSB=0.636676;BQB=0.820136;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=267;DP4=77,29,74,21;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:60:255,0,255:32,28	0/0:51:.:.	0/0:50:.:.	0/1:67:255,0,255:32,35	0/1:74:255,0,255:42,32	C	T	0	3	Synaptotagmin-1, 185605	.	.	.	1589771|11242035|1856191|16794037|8058779|7749232|8747928|20448186|7791877|12110842|17478680|2333096|1840599|14634669|12110845|12055633|16990140|15044754|11691996|26280336	GO_ION_TRANSPORT;GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_GLUTAMATE_SECRETION;GO_REGULATION_OF_VESICLE_FUSION;GO_ACID_SECRETION;GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_VESICLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_MEMBRANE_FUSION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_NEUROTRANSMITTER_TRANSPORT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_SYNAPTIC_VESICLE_RECYCLING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_MEMBRANE_DOCKING;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_RESPONSE_TO_METAL_ION;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_ANION_TRANSPORT;GO_PROTEIN_OLIGOMERIZATION;GO_SYNAPTIC_VESICLE_ENDOCYTOSIS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_NITROGEN_COMPOUND_TRANSPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_ORGANELLE_MEMBRANE_FUSION;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ORGANIC_ANION_TRANSPORT;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS_OF_NEUROTRANSMITTER;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_SIGNAL_RELEASE;GO_DICARBOXYLIC_ACID_TRANSPORT;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_GROWTH;GO_HEAD_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DETECTION_OF_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION;GO_MEMBRANE_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_DENDRITE_EXTENSION;GO_EXOCYTOSIS;GO_VESICLE_DOCKING;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_ORGANELLE_LOCALIZATION;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATED_EXOCYTOSIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_RESPONSE_TO_CALCIUM_ION;GO_ORGANELLE_FUSION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSOLIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_DETECTION_OF_CALCIUM_ION	GO_CLATHRIN_SCULPTED_VESICLE;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_EXCITATORY_SYNAPSE;GO_NEURON_PROJECTION_TERMINUS;GO_EXOCYTIC_VESICLE;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_AXON;GO_CLATHRIN_COATED_VESICLE;GO_SNARE_COMPLEX;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_COATED_VESICLE_MEMBRANE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_SECRETORY_GRANULE_MEMBRANE;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_COATED_VESICLE;GO_CELL_PROJECTION_PART;GO_PRESYNAPSE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_MEMBRANE_REGION;GO_AXON_PART;GO_TERMINAL_BOUTON;GO_SYNAPSE_PART;GO_TRANSPORT_VESICLE_MEMBRANE;GO_DENSE_CORE_GRANULE;GO_SYNAPTIC_MEMBRANE;GO_EXOCYTIC_VESICLE_MEMBRANE	GO_SYNTAXIN_1_BINDING;GO_AMINO_ACID_BINDING;GO_SYNTAXIN_BINDING;GO_PHOSPHATIDYLINOSITOL_4_5_BISPHOSPHATE_BINDING;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_BINDING;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_CALCIUM_ION_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_CLATHRIN_BINDING;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_RECEPTOR_BINDING;GO_PHOSPHATIDYLSERINE_BINDING;GO_CALMODULIN_BINDING;GO_PHOSPHATIDYLINOSITOL_BISPHOSPHATE_BINDING;GO_MODIFIED_AMINO_ACID_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ORGANIC_ACID_BINDING;GO_1_PHOSPHATIDYLINOSITOL_BINDING;GO_SNARE_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_RECEPTOR_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	REACTOME_BOTULINUM_NEUROTOXICITY;REACTOME_GLUTAMATE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_DOPAMINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_ACETYLCHOLINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_GABA_SYNTHESIS_RELEASE_REUPTAKE_AND_DEGRADATION	Selective expression in neuropil in CNS.	http://www.proteinatlas.org/ENSG00000067715-SYT1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	smooth muscle: 28.3	.	.	BP7
H	12	80865911	.	AC	A	200	PASS	PTPRQ	Protein-tyrosine phosphatase, receptor-type, Q	exonic	NM_001145026	.	frameshift deletion	PTPRQ:NM_001145026:exon5:c.552delC:p.D184fs	ENSG00000139304.8,ENST00000266688.5	.	12q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0159502;SGB=-0.693079;MQSB=0.972604;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=74;DP4=26,7,22,7;IDV=33;IMF=0.44;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/1:62:233,0,255:33,29	AC	A	0	1	Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive	.	.	.	14534255|12802008|20346435|12837292|9727007	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHOLIPID_DEPHOSPHORYLATION;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_EAR_DEVELOPMENT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_EMBRYONIC_MORPHOGENESIS;GO_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION;GO_EAR_MORPHOGENESIS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_INNER_EAR_MORPHOGENESIS	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Small intestine, squamous epithelia, nasopharynx, renal tubules, testis, epididymis, glandular cells of postmenopausal uterus and skeletal muscle exhibited strong immunoreactivity. Trophoblastic cells and smooth muscle were in general negative.	http://www.proteinatlas.org/ENSG00000139304-PTPRQ/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 1.7	cytoplasm	.	PM2
M	12	96288809	rs140348782	A	G	190	PASS	CCDC38	.	exonic	NM_182496	.	missense SNV	CCDC38:NM_182496:exon8:c.T730C:p.S244P	ENSG00000165972.12,ENSG00000139343.10,ENST00000552085.1,ENST00000344280.7	.	12q23.1	.	.	.	.	.	rs140348782	.	.	0.0116279	0.0079	0.00179712	0.0003	0.00031101	273306	0.00408910	18586	0.00252623	0.00440141	.	0.3659	.	0.204,T	0.005,B	0.006,B	1,N	0.041517,N	1.04,L	1.46,T	4.3398	-0.789	-0.399	.	.	0.00386394131017	VDB=0.331179;SGB=-0.691153;RPB=0.749095;MQB=0.000439059;MQSB=0.966359;BQB=0.979278;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=52;DP4=17,3,17,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:29:.:.	0/0:30:.:.	0/1:38:223,0,255:20,18	A	G	0	1	.	.	.	.	.	.	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000165972-CCDC38/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	liver: 0.8	nucleoli; nucleus	.	BP4
M	12	104118835	rs772006897	T	C	222	PASS	STAB2	.	exonic	NM_017564	.	missense SNV	STAB2:NM_017564:exon45:c.T4766C:p.I1589T	ENST00000388887.6,ENSG00000136011.14	.	12q23.3	.	.	.	.	.	rs772006897	.	.	.	.	.	.	0.00001805	277006	0.00021204	18864	.	.	.	-3.3770	EGF domain, merozoite surface protein 1-like;Epidermal growth factor-like domain;FAS1 domain;Green fluorescent protein-like	0.261,T	0.006,B	0.001,B	1,N	0.353895,N	0.19,N	-2.48,D	5.9077	-0.017	1.023	.	.	0.015779300904	VDB=0.0321786;SGB=-0.693136;RPB=0.0699937;MQB=2.81232e-07;MQSB=0.914088;BQB=0.826823;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=87;DP4=16,15,23,12;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:47:.:.	0/0:49:.:.	0/0:31:.:.	0/0:47:.:.	0/1:66:255,0,255:31,35	T	C	0	1	.	.	.	.	.	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_REGULATION_OF_WOUND_HEALING;GO_REGULATION_OF_COAGULATION;GO_HYALURONAN_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_VESICLE_MEDIATED_TRANSPORT;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_HYALURONAN_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_OXIDATION_REDUCTION_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_ANGIOGENESIS;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_ENDOCYTOSIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_DEFENSE_RESPONSE_TO_BACTERIUM	GO_VESICLE_MEMBRANE;GO_ENDOCYTIC_VESICLE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE	GO_PROTEIN_LIPID_COMPLEX_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_BINDING;GO_CALCIUM_ION_BINDING;GO_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_SCAVENGER_RECEPTOR_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_PROTEIN_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_LOW_DENSITY_LIPOPROTEIN_RECEPTOR_ACTIVITY;GO_CARGO_RECEPTOR_ACTIVITY;GO_LIPOPROTEIN_PARTICLE_RECEPTOR_ACTIVITY;GO_HYALURONIC_ACID_BINDING;GO_RECEPTOR_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	REACTOME_HYALURONAN_UPTAKE_AND_DEGRADATION;REACTOME_HYALURONAN_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	Cytoplasmic expression in sinusoidal endothelial cells of liver, spleen and lymph node.	http://www.proteinatlas.org/ENSG00000136011-STAB2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lymph node: 3.0	cytoplasm	.	BP4, PM1, PM2
H	12	104709632	rs557073392	C	T	222	PASS	TXNRD1	Thioredoxin reductase-1	exonic	NM_001093771,NM_001261445,NM_001261446,NM_003330,NM_182729,NM_182742,NM_182743	.	unknown	UNKNOWN	ENST00000524698.5,ENSG00000198431.15,ENST00000526691.5,ENST00000354940.10,ENST00000429002.6,ENST00000388854.7,ENST00000503506.6,ENST00000525566.5,ENST00000529751.1,ENST00000526950.1,ENST00000526580.5,ENST00000527688.5,ENST00000397736.6,ENST00000527335.5,ENST00000529546.5,ENST00000531691.5,ENST00000526390.5	.	12q23.3	.	.	.	.	.	rs557073392	.	.	0	0.001	0.000199681	.	0.00011908	277114	0.00174918	18866	0.00388651	0.00440141	.	-0.1145	.	.	.	.	.	.	.	.	.	0.326	0.367	1.856704,15.32	.	.	VDB=0.427542;SGB=-0.692352;RPB=0.589388;MQB=6.98033e-07;MQSB=0.996397;BQB=0.968368;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=53;DP4=10,8,12,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:29:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:39:255,0,255:18,21	C	T	0	1	Thioredoxin reductase-1, 601112	.	.	.	18042542|8921404|7589432|8650234|9671710|8577704	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_TISSUE_MORPHOGENESIS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_CELL_REDOX_HOMEOSTASIS;GO_CELL_PROLIFERATION;GO_DETOXIFICATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_GASTRULATION;GO_MESODERM_MORPHOGENESIS;GO_OXIDATION_REDUCTION_PROCESS;GO_EMBRYONIC_MORPHOGENESIS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_INTERCONVERSION;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_MESODERM_DEVELOPMENT;GO_CELLULAR_HOMEOSTASIS;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_TISSUE_DEVELOPMENT;GO_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES	GO_MITOCHONDRION	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H;GO_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_ELECTRON_CARRIER_ACTIVITY;GO_PROTEIN_DISULFIDE_OXIDOREDUCTASE_ACTIVITY;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_COENZYME_BINDING	KEGG_PYRIMIDINE_METABOLISM	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_SYNTHESIS_AND_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000198431-TXNRD1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 72.4	nucleus	.	PM2
L	12	107219572	rs183725820	T	G	222	PASS	RIC8B	Ric8, C. elegans, homolog of, B	exonic	NM_001330145,NM_001330146,NM_001330147,NM_001351361,NM_001351362,NM_001351363,NM_001351364,NM_001351366,NM_001351367,NM_018157	.	synonymous SNV	RIC8B:NM_001330146:exon3:c.T762G:p.T254T,RIC8B:NM_001351363:exon3:c.T762G:p.T254T,RIC8B:NM_001330145:exon4:c.T810G:p.T270T,RIC8B:NM_001330147:exon4:c.T810G:p.T270T,RIC8B:NM_001351366:exon4:c.T546G:p.T182T,RIC8B:NM_001351367:exon4:c.T546G:p.T182T,RIC8B:NM_018157:exon4:c.T810G:p.T270T,RIC8B:NM_001351361:exon5:c.T786G:p.T262T,RIC8B:NM_001351362:exon5:c.T786G:p.T262T,RIC8B:NM_001351364:exon5:c.T690G:p.T230T	ENST00000392839.6,ENST00000470628.2,ENST00000549643.5,ENST00000462949.5,ENST00000548914.5,ENST00000392837.8,ENST00000638198.1,ENST00000355478.6,ENST00000470960.1,ENSG00000111785.19	.	12q23.3	.	.	Score=804;Name=V$FOXO1_02	.	.	rs183725820	.	.	0.0199336	0.0228	0.00459265	7.7e-05	0.00211796	277154	0.03028535	18854	0.02157015	0.02200704	.	0.1520	.	.	.	.	1,D	.	.	.	5.4885	-0.240	0.492	0.994964,10.63	.	.	VDB=0.0152093;SGB=-0.692717;RPB=0.63224;MQB=6.62117e-06;MQSB=0.530388;BQB=0.996637;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=60;DP4=10,7,17,6;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:40:255,0,255:17,23	T	G	0	1	Ric8, C. elegans, homolog of, B, 609147	.	.	.	15479639|12652642|12509430|16754875	GO_REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOPLASMIC_REGION;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_CORTEX;GO_MICROTUBULE_ORGANIZING_CENTER	GO_G_PROTEIN_ALPHA_SUBUNIT_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	.	Normal cells displayed moderate to strong cytoplasmic staining, often with a granular pattern.	http://www.proteinatlas.org/ENSG00000111785-RIC8B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 9.7	cytoplasm; centrosome	.	BP7
H	12	108169363	rs565803870	A	G	222	PASS	ASCL4	.	exonic	NM_203436	.	missense SNV	ASCL4:NM_203436:exon1:c.A371G:p.H124R	ENSG00000187855.5,ENST00000342331.4	CpG: 76	12q23.3	.	.	Score=799;Name=V$PBX1_02	.	.	rs565803870	.	.	0.00166113	0.001	0.000199681	.	0.00001583	189510	0.00020661	14520	0.00019433	.	.	.	Myc-type, basic helix-loop-helix (bHLH) domain	0.295,T	0.168,B	0.379,B	0.991684,D	0.000412,D	1.49,L	-4.67,D	13.9979	1.767	4.877	1.655543,14.16	4.44	0.324221760736	VDB=0.753244;SGB=-0.693097;RPB=0.828172;MQB=2.23263e-08;MQSB=0.288162;BQB=0.175702;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=22,7,14,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:59:255,0,255:29,30	A	G	0	1	.	.	.	.	.	GO_SKIN_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000187855-ASCL4/tissue	FPKM<0.5 in all tissues <Not detected>	tonsil: 0.1	.	.	PM1, PM2
M	12	108923964	rs745492668	C	T	222	PASS	SART3	Squamous cell carcinoma antigen recognized by T cells 3	exonic	NM_014706	.	missense SNV	SART3:NM_014706:exon15:c.G1870A:p.G624R	ENST00000431469.6,ENST00000546815.5,ENSG00000075856.11,ENST00000228284.7,ENST00000546728.5	.	12q23.3	.	.	.	.	.	rs745492668	.	.	.	.	.	.	0.00005282	246130	0.00011597	17246	0.00058298	0.00088028	.	-0.0898	.	0.333,T	0.001,B	0.001,B	1,N	0.311282,N	-1.1,N	0.52,T	6.061	-0.100	1.412	.	.	0.0111506331439	VDB=0.908163;SGB=-0.689466;RPB=0.14654;MQB=0.00245074;MQSB=0.830315;BQB=0.561647;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=101;DP4=22,11,35,8;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:32:16,16	0/0:.:50:.	0/0:.:30:.	0/0:.:54:.	0/0:.:31:.	0/0:.:30:.	0/0:.:30:.	0/0:.:40:.	0/1:255,0,255:44:17,27	C	T	0	2	Squamous cell carcinoma antigen recognized by T cells 3, 611684	.	.	.	12032085|17392836|10761712|15031286|8590280|12578909|10463607|15840095	GO_CHROMOSOME_ORGANIZATION;GO_IMMUNE_SYSTEM_PROCESS;GO_MRNA_PROCESSING;GO_HOMEOSTATIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_STEM_CELL_PROLIFERATION;GO_RNA_PROCESSING;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY;GO_CELL_PROLIFERATION;GO_HEMATOPOIETIC_STEM_CELL_PROLIFERATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CHROMATIN_ORGANIZATION;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_POSITIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_MRNA_METABOLIC_PROCESS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_SPLICEOSOMAL_COMPLEX_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_RNA_SPLICING;GO_DNA_PACKAGING;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SPLICEOSOMAL_SNRNP_ASSEMBLY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	GO_NUCLEAR_SPECK;GO_CAJAL_BODY;GO_NUCLEAR_BODY;GO_SPLICEOSOMAL_TRI_SNRNP_COMPLEX;GO_NUCLEOPLASM_PART;GO_U4_U6_X_U5_TRI_SNRNP_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_SMALL_NUCLEAR_RIBONUCLEOPROTEIN_COMPLEX	GO_HISTONE_BINDING;GO_PROTEASE_BINDING;GO_UBIQUITIN_SPECIFIC_PROTEASE_BINDING;GO_SNRNA_BINDING;GO_ENZYME_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous mainly nuclear expression.	http://www.proteinatlas.org/ENSG00000075856-SART3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 18.2	vesicles	.	BP4
L	12	110206550	rs372654452	C	T	222	PASS	FAM222A	.	exonic	NM_032829	.	synonymous SNV	FAM222A:NM_032829:exon3:c.C816T:p.A272A	ENST00000541723.5,ENSG00000255650.5,ENSG00000139438.5,ENST00000358906.3,ENST00000541460.1,ENST00000538780.1	.	12q24.11	.	.	.	.	.	rs372654452	.	.	.	.	.	0.0002	0.00021616	222056	0.00265188	16592	0.00116686	0.00088496	.	.	.	.	.	.	.	.	.	.	.	0.342	-0.491	1.944237,15.86	2.7	.	VDB=0.667699;SGB=-0.693146;RPB=0.956383;MQB=3.53823e-09;MQSB=0.455713;BQB=0.185844;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=104;DP4=22,15,24,20;MinDP=36;AN=18;AC=1	GT:DP:PL:AD	0/0:54:.:.	0/0:55:.:.	0/0:54:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:36:.:.	0/0:50:.:.	0/1:81:255,0,255:37,44	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues displayed weak to moderate cytoplasmic and/or nuclear positivity. Strong cytoplasmic staining was observed in stomach and rectum while oral mucosa showed strong nuclear staining. Membranous staining was observed in intestinal tract. Endocrine glands, bile ducts, female genital tract, lymphoid tissues and muscle cells were mainly negative.	http://www.proteinatlas.org/ENSG00000139438-FAM222A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 5.4	nucleus but not nucleoli; mitochondria; plasma membrane; focal adhesions	.	PM2, PP3
H	12	111800606	rs201946973	C	T	222	PASS	FAM109A	Family with sequence similarity 109, member A	exonic	NM_001177996,NM_001177997,NM_144671	.	missense SNV	FAM109A:NM_001177997:exon3:c.G626A:p.R209H,FAM109A:NM_144671:exon3:c.G626A:p.R209H,FAM109A:NM_001177996:exon4:c.G665A:p.R222H	ENST00000361483.4,ENST00000548163.1,ENST00000547838.2,ENSG00000198324.13	.	12q24.12	.	.	.	.	.	rs201946973	.	.	0.00830565	0.0079	0.00159744	.	0.00145493	158770	0.01530967	11496	0.02273611	0.02300885	.	.	.	0.0,D	0.864,P	0.998,D	0.999973,N	.	.	.	10.4804	1.863	-0.054	4.809629,24.8	3.19	.	VDB=0.00332135;SGB=-0.693147;RPB=0.882767;MQB=8.48904e-15;MQSB=0.95118;BQB=0.99975;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=107;DP4=8,37,7,43;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/1:95:255,0,255:45,50	C	T	0	1	Family with sequence similarity 109, member A, 614239	.	.	.	21233288|20133602	GO_ENDOSOME_ORGANIZATION;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_RECEPTOR_METABOLIC_PROCESS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_VACUOLE_ORGANIZATION;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_CYTOSOLIC_TRANSPORT	GO_VACUOLE;GO_CLATHRIN_COATED_VESICLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_INTRACELLULAR_VESICLE;GO_COATED_VESICLE;GO_GOLGI_APPARATUS;GO_RECYCLING_ENDOSOME;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_ORGANELLE_SUBCOMPARTMENT	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000198324-FAM109A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 16.4	.	.	.
H	12	113532684	rs183848543	C	T	222	PASS	DTX1	Deltex, Drosophila, homolog of, 1	exonic	NM_004416	.	missense SNV	DTX1:NM_004416:exon6:c.C1318T:p.R440C	ENST00000257600.3,ENST00000553140.1,ENST00000547974.5,ENSG00000135144.7	.	12q24.13	.	.	.	.	.	rs183848543	.	.	0.00332226	0.002	0.000399361	7.7e-05	0.00019601	275490	0.00234018	18802	0.00310921	0.00265018	.	-0.3979	Zinc finger, RING-type;Zinc finger, RING/FYVE/PHD-type	0.154,T	0.033,B	0.01,B	0.96993,D	0.005311,N	0.995,L	-0.47,T	8.41	1.779	5.412	7.271101,34	2.97	0.107526398379	VDB=0.620188;SGB=-0.69168;RPB=0.0334906;MQB=4.31469e-07;MQSB=0.284939;BQB=0.938795;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=55;DP4=13,12,16,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:41:.:.	0/0:30:.:.	0/0:30:.:.	0/1:44:255,0,255:25,19	C	T	0	1	Deltex, Drosophila, homolog of, 1, 602582	.	.	.	7716513|8401577|12617994|19592273|11869684|11153911|9590294|10531053|12670957	GO_REGULATION_OF_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_GLIOGENESIS;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_NOTCH_SIGNALING_PATHWAY;GO_PROTEIN_UBIQUITINATION;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_NEUROGENESIS;GO_REGULATION_OF_NOTCH_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_ADHESION;GO_GLIAL_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION	.	GO_SH3_DOMAIN_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_NOTCH_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_LIGASE_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_PS1_PATHWAY	.	REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH	Moderate to strong cytoplasmic positivity with additional membranous staining in several cases was displayed in most normal tissues. Cells of CNS exhibited moderate to strong cytoplasmic and nuclear immunoreactivity. Pneumocytes, bile ducts, lymphoid cells, hematopoietic cells, mesenchymal cells and muscle cells were negative.	http://www.proteinatlas.org/ENSG00000135144-DTX1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 8.5	nucleus but not nucleoli; cytoplasm	.	PM1, PM2
H	12	113592306	rs200344876	G	GC	222	PASS	CFAP73	.	exonic	NM_001144872	.	frameshift insertion	CFAP73:NM_001144872:exon5:c.557dupC:p.A186fs	ENST00000335621.10,ENST00000550918.1,ENSG00000186710.11,ENST00000551256.1	CpG: 44	12q24.13	.	.	.	.	.	rs200344876	.	.	0.0166113	0.0169	0.00359425	.	0.00190308	156588	0.02604374	10060	0.03343701	0.03609155	.	.	.	.	.	.	.	.	.	.	.	.	.	1.233628,10.01	.	.	INDEL;VDB=0.0322424;SGB=-0.693145;MQSB=0.939674;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=87;DP4=10,23,8,33;IDV=46;IMF=0.528736;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:74:255,0,255:33,41	G	GC	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BS1
L+	12	117465866	rs753965292	G	A	222	PASS	FBXW8	F-box and WD40 domain protein 8	exonic	NM_012174,NM_153348	.	synonymous SNV	FBXW8:NM_012174:exon11:c.G1488A:p.A496A,FBXW8:NM_153348:exon11:c.G1686A:p.A562A	ENST00000309909.9,ENST00000455858.2,ENSG00000174989.12	.	12q24.22	.	.	Score=749;Name=V$HEN1_02	.	.	rs753965292	.	.	.	.	.	.	0.00008305	276938	0.00005302	18860	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.470	-3.104	1.438019,12.99	.	.	VDB=0.0489387;SGB=-0.693143;RPB=0.772977;MQB=2.85314e-13;MQSB=0.524064;BQB=0.530482;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=113;DP4=46,8,28,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:76:.:.	0/0:79:.:.	0/0:74:.:.	0/0:58:.:.	0/0:52:.:.	0/0:55:.:.	0/0:51:.:.	0/1:92:255,0,255:54,38	G	A	0	1	F-box and WD40 domain protein 8, 609073	.	.	.	12904573|12481031|15520277|10531037	GO_LABYRINTHINE_LAYER_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_SPONGIOTROPHOBLAST_LAYER_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_PLACENTA_BLOOD_VESSEL_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_LABYRINTHINE_LAYER_BLOOD_VESSEL_DEVELOPMENT;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_PROTEIN_UBIQUITINATION;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_PLACENTA_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_GOLGI_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SCF_UBIQUITIN_LIGASE_COMPLEX;GO_TRANSFERASE_COMPLEX;GO_UBIQUITIN_LIGASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX;GO_GOLGI_APPARATUS	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000174989-FBXW8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 9.2	cytoplasm	.	BP7, PM2
H	12	121017612	rs142190925	C	T	222	PASS	POP5	Processing of precursor 5, S. cerevisiae, homolog of	exonic	NM_015918	.	missense SNV	POP5:NM_015918:exon3:c.G278A:p.R93H	ENST00000541834.1,ENST00000535245.1,ENST00000542776.5,ENST00000511394.2,ENST00000543355.5,ENSG00000167272.10,ENST00000357500.4,ENST00000341039.6	.	12q24.31	.	.	Score=834;Name=V$GR_Q6	.	.	rs142190925	.	.	0.0282392	0.0268	0.0061901	.	0.00193727	277194	0.02607590	18868	0.02370773	0.02024648	.	-0.4740	.	0.022,D	0.938,D	1.0,D	1,D	0.000352,D	1.825,L	.	14.5656	1.321	1.809	6.122294,28.3	4.61	.	VDB=0.280063;SGB=-0.692831;RPB=0.999576;MQB=7.89812e-07;MQSB=0.136275;BQB=0.722739;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=68;DP4=14,12,20,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:50:.:.	0/0:16:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:50:255,0,255:26,24	C	T	0	1	Processing of precursor 5, S. cerevisiae, homolog of, 609992	.	.	.	11413139|11042152	GO_TRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_NCRNA_PROCESSING;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_PROCESSING;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS_ENDONUCLEOLYTIC	GO_NUCLEOLAR_PART;GO_ENDORIBONUCLEASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_ENDONUCLEASE_ACTIVITY_ACTIVE_WITH_EITHER_RIBO_OR_DEOXYRIBONUCLEIC_ACIDS_AND_PRODUCING_5_PHOSPHOMONOESTERS;GO_ENDORIBONUCLEASE_ACTIVITY_PRODUCING_5_PHOSPHOMONOESTERS;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEASE_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY;GO_TRNA_SPECIFIC_RIBONUCLEASE_ACTIVITY;GO_RIBONUCLEASE_P_ACTIVITY;GO_ENDORIBONUCLEASE_ACTIVITY;GO_RIBONUCLEASE_ACTIVITY	.	.	.	.	Nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000167272-POP5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 26.6	nucleus; nucleoli	.	PP3
H	12	123087668	rs374789933	C	T	222	PASS	KNTC1	Kinetochore-associated protein 1	exonic	NM_014708	.	missense SNV	KNTC1:NM_014708:exon48:c.C4979T:p.S1660L	ENST00000541466.1,ENST00000377192.6,ENST00000450485.6,ENSG00000184445.11,ENST00000333479.11,ENST00000436959.7	.	12q24.31	.	.	.	.	.	rs374789933	.	.	0.00166113	0.001	0.000199681	.	0.00009357	245808	0.00104408	17240	0.00038865	0.00088028	.	-0.1104	RZZ complex, subunit KNTC1/ROD, C-terminal	0.116,T	0.277,B	0.574,P	1,N	0.071956,N	2.095,M	1.59,T	9.6651	2.723	1.195	4.051157,23.7	5.74	0.00696651201537	VDB=0.63413;SGB=-0.692717;RPB=0.972393;MQB=3.12131e-06;MQSB=0.845152;BQB=0.881773;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=65;DP4=15,13,14,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:51:255,0,255:28,23	C	T	0	1	Kinetochore-associated protein 1, 607363	.	.	.	11146660|8724849|11590237	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_EXIT_FROM_MITOSIS;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_ORGANELLE_FISSION;GO_SISTER_CHROMATID_SEGREGATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SISTER_CHROMATID_COHESION;GO_MITOTIC_NUCLEAR_DIVISION;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_CELL_CYCLE;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_CHROMOSOME_CENTROMERIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CHROMOSOMAL_REGION;GO_SPINDLE_POLE;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_KINETOCHORE;GO_CONDENSED_CHROMOSOME_CENTROMERIC_REGION;GO_SPINDLE_MICROTUBULE;GO_SUPRAMOLECULAR_FIBER;GO_CONDENSED_CHROMOSOME;GO_SPINDLE	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	Strong cytoplasmic and nuclear positivity was seen in squamous epithelial cells, respiratory epithelium and urothelium. Glandular cells of gastro-intestinal tract were moderately stained. Most remaining cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000184445-KNTC1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 22.2	cytoplasm; plasma membrane	.	PM1, PM2
H	12	123273363	rs369692800	T	C	222	PASS	CCDC62	Coiled-coil domain-containing protein 62	exonic	NM_201435	.	missense SNV	CCDC62:NM_201435:exon5:c.T557C:p.M186T	ENST00000537566.5,ENSG00000130783.13,ENST00000392441.8,ENST00000392440.3,ENST00000341952.8,ENST00000253079.10	.	12q24.31	.	.	.	.	.	rs369692800	.	.	0.00332226	0.002	0.000399361	.	0.00009592	239772	0.00112253	16926	0.00038865	0.00088028	.	0.4664	.	0.117,T	0.026,B	0.039,B	1,D	0.359767,N	0.345,N	1.61,T	12.3693	2.179	2.639	.	5.7	0.00383974274897	VDB=0.222952;SGB=-0.692067;RPB=0.913931;MQB=7.17384e-06;MQSB=0.980574;BQB=0.648299;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=16,8,13,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:44:255,0,255:24,20	T	C	0	1	Coiled-coil domain-containing protein 62, 613481	.	.	.	19126643|18563714|19165854	GO_RESPONSE_TO_ESTRADIOL;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_ESTROGEN;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_CELLULAR_RESPONSE_TO_ESTROGEN_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_RESPONSE_TO_ESTRADIOL_STIMULUS;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_HORMONE_RECEPTOR_BINDING;GO_ESTROGEN_RECEPTOR_BINDING;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_RECEPTOR_BINDING	.	.	.	.	Nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000130783-CCDC62/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 0.5	nucleus but not nucleoli; plasma membrane	.	PM2
L	12	123285785	rs61735889	G	A	222	PASS	CCDC62	Coiled-coil domain-containing protein 62	exonic	NM_201435	.	synonymous SNV	CCDC62:NM_201435:exon9:c.G1092A:p.Q364Q	ENST00000537566.5,ENSG00000130783.13,ENST00000392441.8,ENST00000392440.3,ENST00000341952.8,ENST00000253079.10	.	12q24.31	.	.	.	.	.	rs61735889	.	.	0	.	0.0115815	0.0152	0.00399697	277210	0.00116600	18868	0.00038865	0.00088028	.	0.0226	.	.	.	.	.	.	.	.	.	1.276	1.229	.	3.3	.	VDB=0.377225;SGB=-0.692831;RPB=0.668623;MQB=2.92873e-05;MQSB=0.388917;BQB=0.0872459;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=51;DP4=14,2,16,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:47:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:40:255,0,255:16,24	G	A	0	1	Coiled-coil domain-containing protein 62, 613481	.	.	.	19126643|18563714|19165854	GO_RESPONSE_TO_ESTRADIOL;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_ESTROGEN;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_CELLULAR_RESPONSE_TO_ESTROGEN_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_RESPONSE_TO_ESTRADIOL_STIMULUS;GO_RESPONSE_TO_ALCOHOL;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_HORMONE_RECEPTOR_BINDING;GO_ESTROGEN_RECEPTOR_BINDING;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_RECEPTOR_BINDING	.	.	.	.	Nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000130783-CCDC62/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 0.5	nucleus but not nucleoli; plasma membrane	.	.
H-	12	123341589	rs371812138	C	T	96	PASS	HIP1R	Huntingtin-interacting protein 1-related protein	exonic	NM_001303097,NM_001303099,NM_003959	.	missense SNV	HIP1R:NM_001303097:exon18:c.C1642T:p.R548W,HIP1R:NM_001303099:exon18:c.C1606T:p.R536W,HIP1R:NM_003959:exon18:c.C1642T:p.R548W	ENST00000253083.8,ENST00000535831.5,ENST00000452196.6,ENSG00000130787.13	.	12q24.31	.	.	Score=791;Name=V$HEN1_01	.	.	rs371812138	.	.	0.00332226	0.002	0.000399361	.	0.00011181	178868	0.00124585	12040	0.00038865	0.00139276	.	0.4978	.	0.013,D	0.586,P	0.991,D	1,N	0.055728,N	2.3,M	2.45,T	14.3795	0.252	-0.377	5.709988,26.8	.	0.0244273075511	VDB=0.226058;SGB=-0.616816;RPB=0.918481;MQB=0.00247875;MQSB=0.507697;BQB=0.969852;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=21;DP4=13,1,4,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:32:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:20:129,0,188:14,6	C	T	0	1	Huntingtin-interacting protein 1-related protein, 605613	.	.	.	17452370|11063258|10613908|9734811|11161217|9852681	GO_CELL_DEATH;GO_VESICLE_MEDIATED_TRANSPORT;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS	GO_VESICLE_MEMBRANE;GO_COATED_PIT;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CLATHRIN_COATED_VESICLE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_COATED_VESICLE_MEMBRANE;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_MEMBRANE_REGION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_CLATHRIN_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS	General cytoplasmic expression combined with membranous expression in several tissues.	http://www.proteinatlas.org/ENSG00000130787-HIP1R/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 24.5	plasma membrane; cytoplasm; vesicles	.	PM2
L-	12	123344987	rs371288388	G	A	222	PASS	HIP1R	Huntingtin-interacting protein 1-related protein	exonic	NM_003959	.	synonymous SNV	HIP1R:NM_003959:exon27:c.G2577A:p.Q859Q	ENST00000536617.5,ENST00000253083.8,ENSG00000130787.13,ENST00000538236.1,ENST00000535012.1	.	12q24.31	.	.	.	.	.	rs371288388	.	.	0.00332226	0.002	0.000399361	.	0.00010159	246090	0.00110183	17244	0.00038865	0.00088652	.	0.7731	.	.	.	.	.	.	.	.	.	1.235	4.826	1.084654,11.13	4.43	.	VDB=0.266101;SGB=-0.693146;RPB=0.999733;MQB=3.38209e-07;MQSB=0.956111;BQB=0.0632296;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=139;DP4=49,12,34,9;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:54:.:.	0/0:62:.:.	0/0:102:.:.	0/0:51:.:.	0/1:104:255,0,255:61,43	G	A	0	1	Huntingtin-interacting protein 1-related protein, 605613	.	.	.	17452370|11063258|10613908|9734811|11161217|9852681	GO_CELL_DEATH;GO_VESICLE_MEDIATED_TRANSPORT;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CLATHRIN_MEDIATED_ENDOCYTOSIS;GO_ENDOCYTOSIS	GO_VESICLE_MEMBRANE;GO_COATED_PIT;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CLATHRIN_COATED_VESICLE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_COATED_VESICLE_MEMBRANE;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_MEMBRANE_REGION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_CLATHRIN_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS	General cytoplasmic expression combined with membranous expression in several tissues.	http://www.proteinatlas.org/ENSG00000130787-HIP1R/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 24.5	plasma membrane; cytoplasm; vesicles	.	PM2
L	12	124093284	rs143069601	C	G	222	PASS	DDX55	.	exonic	NM_020936	.	synonymous SNV	DDX55:NM_020936:exon6:c.C459G:p.A153A	ENST00000538744.5,ENST00000238146.8,ENST00000544738.5,ENST00000354291.8,ENST00000540763.5,ENST00000542286.5,ENST00000539934.5,ENST00000536079.5,ENSG00000111364.15	.	12q24.31	.	.	.	.	.	rs143069601	.	.	.	.	.	.	0.00006493	277220	0.00090100	18868	0.00019433	.	.	-1.0706	.	.	.	.	.	.	.	.	.	-3.876	-5.387	1.242450,11.97	.	.	VDB=0.290579;SGB=-0.692976;RPB=0.742117;MQB=6.33409e-09;MQSB=0.894576;BQB=0.919352;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=20,18,15,11;MinDP=47;AN=18;AC=1	GT:DP:PL:AD	0/0:47:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:64:255,0,255:38,26	C	G	0	1	.	.	.	.	.	GO_RNA_SECONDARY_STRUCTURE_UNWINDING	.	GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RNA_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	Normal tissues displayed weak to moderate nuclear staining, with additional cytoplasmic positivity in several tissues. Stomach and a subset of cells in seminiferus ducts of testis were strongly stained.	http://www.proteinatlas.org/ENSG00000111364-DDX55/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 11.7	nucleus; nucleoli; cytoplasm	.	BP7, PM2
L	12	124298332	rs75259413	A	G	222	PASS	DNAH10	Dynein, axonemal, heavy chain 10	exonic	NM_207437	.	missense SNV	DNAH10:NM_207437:exon20:c.A3299G:p.N1100S	ENST00000447853.2,ENST00000467219.5,ENST00000638045.1,ENST00000409039.7,ENSG00000197653.15	.	12q24.31	.	.	.	.	.	rs75259413	.	.	0.00332226	0.002	0.0135783	0.0177	0.00626698	276050	0.00287295	18796	0.00388651	0.00440141	.	-0.8490	.	0.79,T	0.002,B	0.0,B	1,N	.	-0.405,N	2.05,T	11.3676	-1.594	-0.307	.	.	.	VDB=0.193224;SGB=-0.692352;RPB=0.39509;MQB=4.54906e-07;MQSB=0.939413;BQB=0.895457;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=54;DP4=11,12,9,12;MinDP=27;AN=18;AC=1	GT:DP:PL:AD	0/0:27:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:50:.:.	0/1:44:255,0,255:23,21	A	G	0	1	Dynein, axonemal, heavy chain 10, 605884	.	.	.	11175280|15937072	GO_MICROTUBULE_BASED_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MICROTUBULE_BASED_MOVEMENT	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_DYNEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CILIUM	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000197653-DNAH10/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	small intestine: 0.4	.	.	BP4
L	12	125478392	rs751450730	T	TGCC	219	PASS	BRI3BP	BRI3-binding protein	exonic	NM_080626	.	nonframeshift insertion	BRI3BP:NM_080626:exon1:c.56_57insGCC:p.L19delinsLP	ENST00000341446.8,ENSG00000184992.10	CpG: 67	12q24.31	.	.	.	.	Score=264;Name="1144376:(CTG)n(Simple_repeat)"	rs751450730	.	.	.	.	.	.	0.00110661	37050	0.02340936	1666	0.02831715	0.03195489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.699973;SGB=-0.692352;MQSB=0.991936;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=31;DP4=3,1,16,5;IDV=9;IMF=0.290323;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/0:6:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/1:25:255,0,16:4,21	T	TGCC	0	1	BRI3-binding protein, 615627	.	.	.	24371310|11860200|17765869	.	GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_OUTER_MEMBRANE;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	.	.	.	.	.	Most normal tissues displayed moderate cytoplasmic positivity. Strong staining was seen in parathyroid gland, epididymis and in neuronal cells of cerebral cortex. Smooth muscle, renal glomeruli as well as mesenchymal cells were negative.	http://www.proteinatlas.org/ENSG00000184992-BRI3BP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	duodenum: 16.0	nucleus but not nucleoli; golgi apparatus; vesicles	.	BP3
L	12	132466098	rs139101269	G	A	222	PASS	EP400	p400 SWI2/SNF2-related protein	exonic	NM_015409	.	synonymous SNV	EP400:NM_015409:exon4:c.G1500A:p.A500A	ENST00000333577.8,ENSG00000183495.13,ENST00000389561.6,ENST00000332482.8,ENST00000389562.6	.	12q24.33	.	.	Score=851;Name=V$ROAZ_01	.	.	rs139101269	.	.	0.00332226	0.002	0.000798722	0.0005	0.00044089	254034	0.00219718	17750	0.00213758	0.00352734	.	-3.2710	.	.	.	.	.	.	.	.	.	2.723	7.391	1.184945,11.67	5.77	.	VDB=0.0277871;SGB=-0.692976;RPB=0.746844;MQB=4.98517e-07;MQSB=0.655673;BQB=0.99165;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=64;DP4=13,3,17,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/1:42:255,0,255:16,26	G	A	0	1	p400 SWI2/SNF2-related protein, 606265	.	.	.	14966270|18614019|11509179|9225980|24463511|20133580	GO_CHROMOSOME_ORGANIZATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_PROTEIN_ACETYLATION;GO_CHROMATIN_MODIFICATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_CHROMATIN_ORGANIZATION;GO_HISTONE_H2A_ACETYLATION;GO_PROTEIN_ACYLATION;GO_HISTONE_H4_ACETYLATION	GO_CHROMOSOME;GO_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX;GO_INO80_TYPE_COMPLEX;GO_NUCLEAR_SPECK;GO_TRANSFERASE_COMPLEX;GO_NUCLEAR_BODY;GO_NUCLEAR_CHROMOSOME;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_ACETYLTRANSFERASE_COMPLEX	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_CHROMATIN_BINDING;GO_ANTIGEN_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000183495-EP400/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 11.6	nucleus	.	PM2
H	12	132633393	rs199921500	C	T	106	PASS	NOC4L	Nucleolar complex-associated protein 4, S. cerevisiae, homolog of	exonic	NM_024078	.	missense SNV	NOC4L:NM_024078:exon9:c.C854T:p.A285V	ENST00000330579.5,ENSG00000184967.6,ENST00000535343.5,ENST00000541954.1	CpG: 181	12q24.33	.	.	Score=939;Name=V$LMO2COM_01	.	.	rs199921500	.	.	0.00166113	0.001	0.000199681	0.0002	0.00004978	261172	0.00026838	18630	0.00111359	.	.	-0.3471	.	0.308,T	0.045,B	0.163,B	0.861035,D	0.000003,D	2,M	0.79,T	7.5718	2.566	3.800	2.484028,19.36	4.53	0.0167876317116	VDB=0.0665951;SGB=-0.670168;RPB=0.894801;MQB=0.573852;BQB=0.990431;MQ0F=0;ICB=1;HOB=0.5;MQ=39;DP=34;DP4=15,0,10,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:31:.:.	0/0:31:.:.	0/1:25:139,0,186:15,10	C	T	0	1	Nucleolar complex-associated protein 4, S. cerevisiae, homolog of, 612819	.	.	.	12446671	GO_RIBOSOME_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA;GO_RRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS;GO_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA_;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS	GO_90S_PRERIBOSOME;GO_NUCLEAR_ENVELOPE;GO_PRERIBOSOME;GO_SMALL_SUBUNIT_PROCESSOME;GO_ENVELOPE;GO_NUCLEOLUS;GO_NUCLEAR_MEMBRANE;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Weak to moderate positivity was observed in neuropil. Subsets of neuronal cells showed weak to moderate nucleolar positivity. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000184967-NOC4L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 16.6	nucleoli; nucleus	.	PM2
L	12	132688152	rs143941649	G	A	222	PASS	GALNT9	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9	exonic	NM_001122636,NM_021808	.	synonymous SNV	GALNT9:NM_021808:exon3:c.C63T:p.N21N,GALNT9:NM_001122636:exon7:c.C1161T:p.N387N	ENST00000397325.2,ENSG00000182870.8,ENST00000411988.2,ENST00000538356.1,ENST00000328957.8,ENST00000541995.1,ENST00000542942.1,ENST00000535228.1	CpG: 26	12q24.33	.	.	.	.	.	rs143941649	.	.	0.00830565	0.006	0.00119808	.	0.00034664	276944	0.00493107	18860	0.00544112	0.00704225	.	-0.5702	.	.	.	.	0.999998,D	.	.	.	14.9006	-1.789	-1.195	.	.	.	VDB=0.633341;SGB=-0.693147;RPB=0.352472;MQB=2.66446e-27;MQSB=0.409156;BQB=0.497879;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=236;DP4=62,29,46,34;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:200:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:171:255,0,255:91,80	G	A	0	1	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9, 606251	.	.	.	22171061|20977886|10978536	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY;GO_CARBOHYDRATE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_POLYPEPTIDE_N_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_O_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	.	http://www.proteinatlas.org/ENSG00000182870-GALNT9/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 3.2	.	.	BP7
H-	12	133383833	rs144612495	A	T	222	PASS	GOLGA3	Golgi autoantigen, golgin subfamily A, 3	exonic	NM_001172557,NM_005895	.	missense SNV	GOLGA3:NM_001172557:exon6:c.T1220A:p.M407K,GOLGA3:NM_005895:exon6:c.T1220A:p.M407K	ENSG00000090615.14,ENST00000204726.7,ENST00000450791.6,ENST00000545875.4,ENST00000456883.6	.	12q24.33	.	.	.	.	.	rs144612495	.	.	0.00498339	0.005	0.000998403	.	0.00030436	249702	0.00411407	17744	0.00544112	0.00616197	.	0.4553	.	0.002,D	0.45,P	0.907,P	1,D	0.000001,D	2.39,M	-1.23,T	15.2976	2.020	8.891	5.255495,25.7	5.33	0.0896677800305	VDB=0.300551;SGB=-0.692352;RPB=0.930232;MQB=0.0106387;MQSB=0.438235;BQB=0.471945;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=56;DP4=17,1,16,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:39:255,0,251:18,21	A	T	0	1	Golgi autoantigen, golgin subfamily A, 3, 602581	.	.	.	12036294|8315394|12130652|9295333	GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_GOLGI_VESICLE_TRANSPORT	GO_GOLGI_STACK;GO_GOLGI_CISTERNA;GO_GOLGI_APPARATUS_PART;GO_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_GOLGI_MEMBRANE;GO_GOLGI_TRANSPORT_COMPLEX;GO_GOLGI_APPARATUS;GO_NUCLEOLUS;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_GOLGI_CISTERNA_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT	GO_TRANSPORTER_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000090615-GOLGA3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	colon: 11.3	golgi apparatus; nucleus	.	PP3
L	13	19997270	.	G	A	219	PASS	TPTE2	Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	exonic	NM_001141968,NM_001271850,NM_130785,NM_199254	.	missense SNV	TPTE2:NM_001271850:exon7:c.C514T:p.H172Y,TPTE2:NM_130785:exon18:c.C1270T:p.H424Y,TPTE2:NM_001141968:exon19:c.C1168T:p.H390Y,TPTE2:NM_199254:exon21:c.C1501T:p.H501Y	ENSG00000132958.17,ENST00000400230.6,ENST00000255310.10,ENST00000400103.6,ENST00000390680.2,ENST00000382978.5,ENST00000462409.5	.	13q12.11	.	.	Score=916;Name=V$FREAC7_01	Score=0.962004;Name=chr21:10895796	.	.	.	.	.	.	.	.	0.00000825	242428	0.00011837	16896	.	.	.	.	C2 domain;Tensin phosphatase, C2 domain	0.001,D	0.998,D	1.0,D	0.999399,D	0.000000,U	2.595,M	-2.07,D	7.5015	1.408	5.288	4.011019,23.6	.	0.0157411878661	VDB=0.52337;SGB=-0.680642;RPB=0.997578;MQB=0.000237622;MQSB=0.993109;BQB=0.877755;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=35;DP4=9,7,8,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:28:252,0,255:16,12	G	A	0	1	Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2, 606791	.	.	.	11716755	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION	GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY	.	.	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	.	http://www.proteinatlas.org/ENSG00000132958-TPTE2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 0.2	.	.	PM1, PM2
M	13	24243081	rs115260428	T	C	222	PASS	TNFRSF19	.	exonic	NM_001204458,NM_001204459,NM_018647,NM_148957	.	missense SNV	TNFRSF19:NM_001204459:exon7:c.T694C:p.S232P,TNFRSF19:NM_001204458:exon9:c.T1090C:p.S364P,TNFRSF19:NM_018647:exon9:c.T1090C:p.S364P,TNFRSF19:NM_148957:exon9:c.T1090C:p.S364P	ENSG00000127863.15,ENST00000382258.8,ENST00000382263.3,ENST00000403372.6,ENST00000248484.8	.	13q12.12	.	.	.	.	.	rs115260428	.	.	0.0232558	0.0188	0.00379393	0.0002	0.00133104	277226	0.01849889	18866	0.01204819	0.01144366	.	0.1454	.	0.065,T	0.001,B	0.001,B	1,N	0.749268,N	0.46,N	-1.22,T	0.9423	-0.007	-0.088	.	.	.	VDB=0.159591;SGB=-0.690438;RPB=0.908633;MQB=0.00013966;MQSB=0.524875;BQB=0.77646;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=56;DP4=16,7,7,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:40:255,0,255:23,17	T	C	0	1	.	.	.	.	.	GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_DEATH;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_JNK_CASCADE;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_SKIN_EPIDERMIS_DEVELOPMENT;GO_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_MOLTING_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_EPIDERMIS_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_JNK_CASCADE;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_RESPONSE_TO_CYTOKINE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_SKIN_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_PHOSPHORYLATION;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_TISSUE_DEVELOPMENT	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_DEATH_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION	.	.	.	Hepatocytes, renal tubuli, subsets of cells in squamous epithelium and lymphoid germinal centers were very strongly stained. Moderate positivity was observed in testis, prostate and non-germinal center cells in tonsil. Normal cells in general displayed weak cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000127863-TNFRSF19/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 31.9	mitochondria; nucleus but not nucleoli	.	BP4
H	13	25433204	rs148232728	C	A	95	PASS	RNF17	RING finger protein-17	exonic	NM_001184993,NM_031277	.	missense SNV	RNF17:NM_001184993:exon26:c.C3664A:p.P1222T,RNF17:NM_031277:exon26:c.C3676A:p.P1226T	ENST00000339524.3,ENST00000418120.5,ENSG00000132972.18,ENST00000255324.9	.	13q12.12	.	.	Score=766;Name=V$STAT5A_02	.	.	rs148232728	.	.	0.0481728	0.0347	0.0081869	.	0.00237749	276342	0.03267000	18794	0.03983677	0.03873239	.	0.0144	Tudor domain	0.019,D	0.999,D	1.0,D	0.972154,D	0.000001,D	2.135,M	2.96,T	13.0601	1.542	4.014	4.637444,24.5	4.3	.	VDB=0.605618;SGB=-0.616816;RPB=0.99915;MQB=0.00247875;MQSB=0.507697;BQB=0.612751;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=24;DP4=13,1,4,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:29:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:31:.:.	0/1:20:129,0,230:14,6	C	A	0	1	RING finger protein-17, 605793	.	.	.	11279525	GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_SPERMATID_DIFFERENTIATION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	.	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	General cytoplasmic expression of varying intensity, including testis.	http://www.proteinatlas.org/ENSG00000132972-RNF17/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	placenta: 0.9	.	.	BS1, PM1, PP3
H	13	26133208	rs182400743	G	C	222	PASS	ATP8A2	ATPase, class I, type 8A, member 2	splicing	NM_001313741,NM_016529	NM_001313741:exon14:c.1232+9G>C;NM_016529:exon14:c.1352+9G>C	.	.	ENST00000281620.10,ENST00000381655.6,ENSG00000132932.16,ENST00000255283.9	.	13q12.13	.	.	.	.	.	rs182400743	.	.	.	.	.	.	0.00006144	260406	0.00083491	17966	.	.	.	-0.2610	.	.	.	.	.	.	.	.	.	-0.801	0.005	.	.	.	VDB=0.0180471;SGB=-0.692831;RPB=0.993974;MQB=1.90034e-07;MQSB=0.466474;BQB=0.6262;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=66;DP4=14,8,11,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:46:255,0,255:22,24	G	C	0	1	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive	.	.	.	20683487|11015572|22892528|18326629|10551800	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_VESICLE_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_TISSUE_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_MOVEMENT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURAL_RETINA_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_SKELETAL_MUSCLE_CONTRACTION;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION;GO_POSITIVE_REGULATION_OF_LIPID_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_BUDDING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_ANION_TRANSPORT;GO_AGING;GO_EMBRYO_DEVELOPMENT;GO_STRIATED_MUSCLE_CONTRACTION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_MULTICELLULAR_ORGANISM_GROWTH;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EATING_BEHAVIOR;GO_EAR_DEVELOPMENT;GO_MEMBRANE_BUDDING;GO_MUSCLE_CONTRACTION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_LIPID_TRANSLOCATION;GO_ORGANIC_ANION_TRANSPORT;GO_REGULATION_OF_LIPID_TRANSPORT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_RESPONSE_TO_RADIATION;GO_RESPONSE_TO_AUDITORY_STIMULUS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_EAR_MORPHOGENESIS;GO_RETINA_LAYER_FORMATION;GO_DETECTION_OF_LIGHT_STIMULUS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_GROWTH;GO_DETECTION_OF_VISIBLE_LIGHT;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_DETECTION_OF_STIMULUS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_POSTURE;GO_DETECTION_OF_LIGHT_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;GO_PHOSPHOLIPID_TRANSPORT;GO_EYE_DEVELOPMENT;GO_MUSCLE_SYSTEM_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_NEURON_DIFFERENTIATION;GO_GOLGI_VESICLE_TRANSPORT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_FEEDING_BEHAVIOR;GO_REGULATION_OF_TRANSPORT;GO_NEUROMUSCULAR_PROCESS;GO_LIPID_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_REGULATION_OF_ION_TRANSPORT;GO_SKIN_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISM_GROWTH;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGULATION_OF_ANION_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BEHAVIOR;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ANION_TRANSPORT;GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_INNER_EAR_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_EYE_MORPHOGENESIS	GO_VACUOLE;GO_NEURON_PART;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_PRIMARY_CILIUM;GO_GOLGI_APPARATUS;GO_CILIUM;GO_ENDOSOME;GO_PHOTORECEPTOR_OUTER_SEGMENT;GO_ORGANELLE_SUBCOMPARTMENT	GO_LIPID_TRANSPORTER_ACTIVITY;GO_MAGNESIUM_ION_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PHOSPHOLIPID_TRANSLOCATING_ATPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOLIPID_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	Cytoplasmic expression in testis and CNS.	http://www.proteinatlas.org/ENSG00000132932-ATP8A2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	adrenal gland: 2.0	.	.	PM2
H	13	31287978	.	G	GGTAT	228	PASS	ALOX5AP	Arachidonate 5-lipoxygenase-activating protein	exonic	NM_001204406	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGTAT:p.W39fs	ENSG00000132965.9,ENST00000617770.4	.	13q12.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00002568	77874	.	.	0.01966511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.066758,3.675	.	.	INDEL;VDB=0.0369772;SGB=-0.69311;MQSB=1;MQ0F=0;MQ=50;ICB=1;HOB=0.5;DP=307;DP4=2,3,44,86;IDV=56;IMF=0.666667;MinDP=40;AN=18;AC=3	GT:PL:DP:AD	0/0:255,.,.:31:0,.	0/0:.:71:.	0/0:255,.,.:63:0,.	0/0:.:52:.	0/3:224,.,.,.,.,.,0,.,.,12:21:3,.,.,18	0/0:.:46:.	0/0:.:40:.	0/0:.:44:.	3/3:255,.,.,.,.,.,13,.,.,0:20:2,.,.,18	G	GGTGT,GGT,GGTAT	1	1	{Stroke, susceptibility to}, 601367 (3), Multifactorial	.	.	.	2300173|17600184|1673682|2300172|10036194	GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_LEUKOTRIENE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_PROTEIN_OLIGOMERIZATION;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_LIPOXYGENASE_PATHWAY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PROTEIN_TRIMERIZATION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_HOMOTRIMERIZATION;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_LEUKOTRIENE_METABOLIC_PROCESS;GO_UNSATURATED_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_CALCIUM_ION	GO_NUCLEAR_ENVELOPE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_LONG_CHAIN_FATTY_ACID_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYL_OTHER_THAN_METHYL_GROUPS;GO_FATTY_ACID_BINDING;GO_GLUTATHIONE_PEROXIDASE_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ORGANIC_ACID_BINDING;GO_CARBON_SULFUR_LYASE_ACTIVITY;GO_GLUTATHIONE_TRANSFERASE_ACTIVITY;GO_LYASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_LIPID_BINDING;GO_PROTEIN_N_TERMINUS_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_MONOCARBOXYLIC_ACID_BINDING	.	.	.	.	Subsets of lymphoid, inflammatory and bone marrow poietic cells displayed strong cytoplasmic immunoreactivity. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000132965-ALOX5AP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 237.2	.	.	.
L-	13	42872716	rs142812726	A	G	222	PASS	AKAP11	A-kinase anchor protein 11	exonic	NM_016248	.	synonymous SNV	AKAP11:NM_016248:exon7:c.A399G:p.S133S	ENST00000025301.3,ENSG00000023516.8	.	13q14.11	.	.	Score=866;Name=V$RORA2_01	.	.	rs142812726	.	.	0.0116279	0.0109	0.0081869	0.0002	0.00496442	275964	0.01253585	18826	0.01088647	0.00704225	.	0.0610	.	.	.	.	.	.	.	.	.	0.543	0.073	.	2.52	.	VDB=0.302511;SGB=-0.691153;RPB=0.980683;MQB=8.48182e-05;MQSB=0.459411;BQB=0.954881;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=107;DP4=41,6,29,5;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:12:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:37:255,0,244:19,18	0/0:31:.:.	0/1:44:219,0,255:28,16	A	G	0	2	A-kinase anchor protein 11, 604696	.	.	.	9734811|8621616|21890631	GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_PROTEIN_KINASE_A_SIGNALING	GO_MICROTUBULE_CYTOSKELETON;GO_MICROBODY;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PROTEIN_KINASE_A_REGULATORY_SUBUNIT_BINDING;GO_PROTEIN_COMPLEX_SCAFFOLD;GO_PROTEIN_PHOSPHATASE_BINDING;GO_PROTEIN_KINASE_A_BINDING;GO_KINASE_BINDING;GO_PHOSPHATASE_BINDING;GO_PROTEIN_KINASE_A_CATALYTIC_SUBUNIT_BINDING;GO_PROTEIN_PHOSPHATASE_1_BINDING;GO_ENZYME_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000023516-AKAP11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 27.0	nucleoli; plasma membrane; cytoplasm	.	.
H	13	46850757	.	AGTTTGGT	A	222	PASS	LRRC63	.	exonic	NM_001282460	.	frameshift deletion	LRRC63:NM_001282460:exon10:c.1584_1590del:p.K528fs	ENST00000595396.1,ENSG00000173988.12,ENST00000446175.5	.	13q14.13	.	.	Score=905;Name=V$CEBP_01	.	.	.	.	.	.	.	.	.	0.00035805	30722	0.00683230	1610	0.00204221	0.00352734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=2.74437e-05;SGB=-0.693021;MQSB=0.985168;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=119;DP4=46,25,19,20;IDV=27;IMF=0.364865;MinDP=30;AN=16;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:70:255,0,255:43,27	./.:.:.:.	0/1:40:253,0,255:28,12	AGTTTGGT	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Mainly, general cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000173988-LRRC63/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 0.2	golgi apparatus	.	.
H	13	47358380	rs546188314	C	T	173	PASS	ESD	Esterase D; S-formylglutathione hydrolase	splicing	NM_001984	NM_001984:exon5:c.256+7G>A	.	.	ENST00000378720.7,ENST00000412582.5,ENSG00000139684.13,ENST00000495654.1,ENST00000378697.5	.	13q14.2	.	.	.	.	.	rs546188314	.	.	0.00166113	0.001	0.000199681	.	0.00003277	244114	0.00046528	17194	.	.	0.0002,0	0.0840	.	.	.	.	.	.	.	.	.	-0.709	-1.253	0.908256,10.13	.	.	VDB=0.73263;SGB=-0.69168;RPB=0.828665;MQB=9.33229e-07;MQSB=0.472222;BQB=0.655168;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=53;DP4=17,2,19,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:38:206,0,255:19,19	C	T	0	1	Esterase D; S-formylglutathione hydrolase, 133280	.	.	.	3770745|3426146|157971|3465678|910860|3032521|3770744|3856863|752527|2977749|7106760|4768551|6714983|3462698|1266853|3198126|7124733|3346019|885549|7189644|6698561|7286974|1222945|1150300|7327583|950243|6500578|7375916|3462714|7398115|6479996|1137344|6716423	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_ALDEHYDE_CATABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_GLUTATHIONE_DERIVATIVE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_ALDEHYDE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTRACELLULAR_VESICLE;GO_ENDOPLASMIC_RETICULUM	GO_THIOLESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_DEACETYLASE_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in a majority of the tissues.	http://www.proteinatlas.org/ENSG00000139684-ESD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 138.7	golgi apparatus; cytoplasm	.	PM2
M	13	50594532	rs138181145	A	G	222	PASS	KCNRG	Potassium channel regulator	exonic	NM_173605	.	missense SNV	KCNRG:NM_173605:exon2:c.A761G:p.N254S	ENST00000478111.5,ENST00000474805.5,ENSG00000204977.9,ENST00000360473.8,ENST00000312942.1,ENSG00000231607.10,ENST00000621282.4,ENSG00000198553.8	.	13q14.2	.	.	.	.	.	rs138181145	.	.	0.00996678	0.0149	0.00299521	.	0.00082724	276824	0.01187825	18858	0.00757870	0.01410935	.	.	.	0.191,T	0.001,B	0.001,B	1,N	0.018510,N	1.045,L	0.72,T	2.9887	0.023	0.068	.	.	.	VDB=0.0486359;SGB=-0.690438;RPB=0.800877;MQB=2.41855e-05;MQSB=1;BQB=0.896152;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=44;DP4=9,7,10,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:29:.:.	0/0:30:.:.	0/0:30:.:.	0/1:33:255,0,255:16,17	A	G	0	1	Potassium channel regulator, 607947	.	.	.	15188451|12650944	GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_DELAYED_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_REGULATION_OF_POTASSIUM_ION_TRANSPORT;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_ENDOPLASMIC_RETICULUM	GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000198553-KCNRG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 2.7	.	.	BP4
L	13	52656382	rs182816317	C	T	165	PASS	NEK5	Never in mitosis gene A-related kinase 5	exonic	NM_199289	.	missense SNV	NEK5:NM_199289:exon18:c.G1639A:p.A547T	ENST00000465811.7,ENST00000617045.1,ENST00000355568.8,ENSG00000197168.11	.	13q14.3	.	.	.	.	Score=2330;Name="1220977:AluSq2(SINE)"	rs182816317	.	.	0.0149502	0.0149	0.00878594	.	0.00879135	62334	0.02443385	3356	0.02531153	0.02112676	.	-0.9013	.	0.062,T	0.0,B	0.0,B	1,N	0.029212,U	0,N	1.43,T	.	0.192	0.280	.	.	.	VDB=0.197901;SGB=-0.692352;RPB=0.509286;MQB=4.78512e-06;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=42;MQSB=1;DP=115;DP4=45,1,46,0;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:170,0,167:35:14,21	0/0:.:30:.	0/0:.:31:.	0/0:.:30:.	0/0:.:31:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/1:198,0,255:57:32,25	C	T	0	2	Never in mitosis gene A-related kinase 5, 616731	.	.	.	25725288|6339527|3277718|26309075|25963817|23727203	GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Expression in cilia in fallopian tube and cells in seminiferous ducts of testis.	http://www.proteinatlas.org/ENSG00000197168-NEK5/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 1.0	.	.	BP4
H-	13	52952690	rs199830506	C	T	222	PASS	THSD1	Thrombospondin type 1 domain-containing protein 1	exonic	NM_018676,NM_199263	.	missense SNV	THSD1:NM_199263:exon4:c.G1256A:p.S419N,THSD1:NM_018676:exon5:c.G1415A:p.S472N	ENST00000349258.8,ENSG00000136114.15,ENST00000258613.4	.	13q14.3	.	.	Score=940;Name=V$AP4_Q6	.	.	rs199830506	.	.	0.00332226	0.005	0.000998403	.	0.00002844	246132	0.00040584	17248	0.00097163	0.00264550	.	.	.	0.24,T	0.037,B	0.061,B	0.935778,D	0.000650,D	1.295,L	1.33,T	10.0215	1.566	2.680	.	5.21	0.011118806002	VDB=0.8951;SGB=-0.693147;RPB=0.562204;MQB=2.18524e-24;MQSB=0.712865;BQB=0.992977;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=232;DP4=59,32,48,31;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:170:255,0,255:91,79	C	T	0	1	Thrombospondin type 1 domain-containing protein 1, 616821	.	.	.	16455951	.	.	.	.	.	.	.	Cytoplasmic expression with highest levels in hepatocytes, exocrine pancreas and thyroid gland, low expression in a few other cell types.	http://www.proteinatlas.org/ENSG00000136114-THSD1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 11.0	cytoplasm	.	.
H*	13	60485969	rs770994435	T	G	222	PASS	DIAPH3	Diaphanous, Drosophila, homolog of, 3	exonic	NM_001042517,NM_001258366,NM_001258367,NM_001258368,NM_001258369,NM_001258370,NM_030932	.	missense SNV	DIAPH3:NM_001258370:exon14:c.A1478C:p.N493T,DIAPH3:NM_030932:exon14:c.A1478C:p.N493T,DIAPH3:NM_001258367:exon18:c.A2129C:p.N710T,DIAPH3:NM_001258368:exon18:c.A2057C:p.N686T,DIAPH3:NM_001258366:exon19:c.A2234C:p.N745T,DIAPH3:NM_001042517:exon20:c.A2267C:p.N756T,DIAPH3:NM_001258369:exon20:c.A2267C:p.N756T	ENST00000465066.5,ENST00000400320.5,ENST00000377908.6,ENST00000400324.8,ENSG00000139734.17,ENST00000267215.8,ENST00000400319.5,ENST00000498416.2	.	13q21.2	.	.	Score=804;Name=V$MEF2_03	.	.	rs770994435	.	.	.	.	.	.	0.00005706	245340	0.00081291	17222	0.00038880	.	0.8958,0.784	-0.0308	Formin, FH2 domain	0.014,D	0.999,D	1.0,D	0.998209,D	0.000000,D	2.865,M	2.29,T	16.7886	2.363	7.525	6.257032,28.9	6.15	0.0257305349648	VDB=0.616794;SGB=-0.691153;RPB=0.980423;MQB=8.17565e-05;MQSB=0.576102;BQB=0.998531;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=41;DP4=4,11,7,11;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:33:255,0,255:15,18	T	G	0	1	Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal dominant	.	.	.	18755006|19457867|27626380|14767582|15520414|20624953	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	.	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_RHO_GTPASE_BINDING;GO_ENZYME_BINDING;GO_GTPASE_BINDING	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000139734-DIAPH3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 4.0	plasma membrane; cytoplasm; cytoskeleton (microtubules)	.	PM1, PP3
H-	13	75898424	rs184766279	C	T	217	PASS	TBC1D4	TPC1 domain family, member 4	exonic	NM_001286658,NM_014832	.	missense SNV	TBC1D4:NM_001286658:exon11:c.G2147A:p.S716N,TBC1D4:NM_014832:exon11:c.G2147A:p.S716N	ENST00000377636.7,ENST00000431480.6,ENST00000488955.1,ENSG00000136111.12,ENST00000377625.6,ENST00000413735.1	.	13q22.2	.	.	Score=776;Name=V$STAT5A_02	.	.	rs184766279	.	.	0.0282392	0.0218	0.00439297	.	0.00113743	276940	0.01633952	18850	0.01263117	0.00793651	.	1.0531	.	0.089,T	0.015,B	0.021,B	1,D	0.050052,N	1.7,L	3.98,T	9.2514	2.495	2.214	2.215212,17.61	5.33	.	VDB=0.219954;SGB=-0.689466;RPB=0.528132;MQB=4.86849e-06;MQSB=0.855837;BQB=0.713998;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=65;DP4=26,7,11,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:49:250,0,255:33,16	C	T	0	1	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)	.	.	.	18276765|19470471|15919790|11829485|16154996|15304337|15971998|25043022|9628581	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_VESICLE_FUSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_INSULIN;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_VESICLE_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	PID_INSULIN_GLUCOSE_PATHWAY;PID_PI3KCI_AKT_PATHWAY	.	.	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000136111-TBC1D4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 54.8	cytoplasm	.	BS2
L	13	79176117	rs866960156	T	C	222	PASS	POU4F1	POU domain, class 4, transcription factor 1	exonic	NM_006237	.	synonymous SNV	POU4F1:NM_006237:exon2:c.A693G:p.A231A	ENST00000377208.6,ENST00000560584.2,ENST00000606124.5,ENSG00000234377.7,ENST00000444769.7,ENST00000607205.5,ENST00000430549.6,ENST00000606429.5,ENST00000607220.5,ENST00000606376.5,ENSG00000152192.7,ENST00000560209.6,ENST00000607860.5	CpG: 214	13q31.1	.	.	.	.	Score=338;Name="1264470:(CCG)n(Simple_repeat)"	rs866960156	.	.	.	.	.	.	0.00939896	24258	0.01801802	1554	0.01099333	0.00265957	.	.	.	.	.	.	.	.	.	.	.	-0.748	-2.141	.	.	.	VDB=0.158285;SGB=-0.692352;RPB=0.723251;MQB=2.97371e-05;MQSB=0.978762;BQB=0.425045;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=58;DP4=8,13,8,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/1:42:255,0,255:21,20	T	C	0	1	POU domain, class 4, transcription factor 1, 601632	.	.	.	12934100|1357630|8248179|8995448|8941380|7623109	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_HINDBRAIN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_SENSORY_PERCEPTION;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_SYNAPSE_ORGANIZATION;GO_CARDIAC_CHAMBER_MORPHOGENESIS;GO_SUCKLING_BEHAVIOR;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_CRANIAL_NERVE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_FOREBRAIN_DEVELOPMENT;GO_CELL_MOTILITY;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_VENTRICULAR_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_PERIPHERAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_HEART_MORPHOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_CARDIAC_VENTRICLE_MORPHOGENESIS;GO_NEURON_FATE_SPECIFICATION;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_I_PROMOTER;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NERVE_DEVELOPMENT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_HEAD_DEVELOPMENT;GO_DIENCEPHALON_DEVELOPMENT;GO_CELL_FATE_COMMITMENT;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_POSTURE;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_CELL_MIGRATION_IN_HINDBRAIN;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_NEURON_FATE_COMMITMENT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_CELL_FATE_SPECIFICATION;GO_PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_FEEDING_BEHAVIOR;GO_NEUROMUSCULAR_PROCESS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION;GO_MESODERM_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BEHAVIOR;GO_INNERVATION;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION;GO_MULTI_ORGANISM_BEHAVIOR;GO_SYNAPSE_ASSEMBLY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NEURON_PART;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_NEURON_PROJECTION;GO_CELL_PROJECTION	GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_ENHANCER_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_DNA_BINDING	.	PID_P53_DOWNSTREAM_PATHWAY;PID_ERA_GENOMIC_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000152192-POU4F1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 0.4	.	.	BP7
H	13	95273363	rs767877350	A	T	126	PASS	GPR180	G protein-coupled receptor 180	exonic	NM_180989	.	missense SNV	GPR180:NM_180989:exon6:c.A768T:p.L256F	ENST00000376958.4,ENSG00000152749.7	.	13q32.1	.	.	.	.	.	rs767877350	.	.	.	.	.	.	0.00001648	242792	0.00017639	17008	.	.	.	-0.0342	Intimal thickness related receptor, IRP	0.172,T	0.228,B	0.64,P	0.999947,D	0.001725,N	2.015,M	0.8,T	13.6129	-1.251	-0.939	2.740944,21.0	.	0.0217033255402	VDB=0.145738;SGB=-0.636426;RPB=0.765017;MQB=0.393241;MQSB=0.7;BQB=0.958048;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=21;DP4=9,1,6,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:17:159,0,195:10,7	A	T	0	1	G protein-coupled receptor 180, 607787	.	.	.	12730718|12538434	GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	.	.	.	.	.	.	Most of the normal cells displayed weak to moderate cytoplasmic positivity. Cells in seminiferus ducts, gall bladder and spleen were strongly stained. Squamous epithelia, skeletal muscle and salivary glands were negative.	http://www.proteinatlas.org/ENSG00000152749-GPR180/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adipose tissue: 4.2	vesicles	.	PM1, PM2
L	13	96743725	.	C	G	222	PASS	HS6ST3	Heparan sulfate 6-O-sulfotransferase 3	exonic	NM_153456	.	synonymous SNV	HS6ST3:NM_153456:exon1:c.C609G:p.G203G	ENST00000376705.3,ENSG00000185352.8	CpG: 154	13q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.489	5.418	1.369601,12.63	5.3	.	VDB=0.777774;SGB=-0.693147;RPB=0.1709;MQB=1.9707e-18;MQSB=0.275453;BQB=0.503479;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=222;DP4=66,32,54,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:106:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:177:255,0,255:98,79	C	G	0	1	Heparan sulfate 6-O-sulfotransferase 3, 609401	.	.	.	11991713|10644753	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	.	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_HEPARAN_SULFATE_SULFOTRANSFERASE_ACTIVITY;GO_SULFOTRANSFERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	.	http://www.proteinatlas.org/ENSG00000185352-HS6ST3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 3.8	.	.	PM2
M	13	103388997	.	C	T	222	PASS	CCDC168	.	exonic	NM_001146197	.	missense SNV	CCDC168:NM_001146197:exon4:c.G14050A:p.E4684K	ENSG00000175820.3,ENST00000322527.3	.	13q33.1	.	.	.	.	.	.	.	.	.	.	.	.	0.00000676	147864	0.00009764	10242	.	0.00176056	.	.	.	1.0,T	0.008,B	0.004,B	1,N	0.000342,N	0,N	3.82,T	1.3128	-0.829	-0.721	.	.	0.00328907509673	VDB=0.572339;SGB=-0.69311;RPB=0.923821;MQB=1.3517e-09;MQSB=0.994897;BQB=0.831299;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=102;DP4=28,16,22,9;MinDP=32;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:52:.:.	0/0:50:.:.	0/0:58:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:53:.:.	0/1:75:255,0,255:44,31	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000175820-CCDC168/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM2
L	13	114525022	rs74663534	G	A	222	PASS	GAS6	Growth arrest-specific 6	exonic	NM_000820	.	synonymous SNV	GAS6:NM_000820:exon14:c.C1791T:p.S597S	ENST00000610073.1,ENST00000480426.5,ENST00000608763.1,ENSG00000233695.2,ENST00000327773.6,ENSG00000183087.14,ENST00000458001.2	.	13q34	.	.	.	.	.	rs74663534	.	.	0.00664452	0.0099	0.00259585	.	0.00129556	222298	0.01230251	15444	0.01400778	0.02035398	.	-0.1893	.	.	.	.	.	.	.	.	.	-0.857	-1.833	0.929251,10.25	.	.	VDB=0.138033;SGB=-0.692562;RPB=0.412693;MQB=0.00073408;MQSB=0.986358;BQB=0.867961;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=46;DP4=14,2,14,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:17:.:.	0/1:38:255,0,234:16,22	G	A	0	1	Growth arrest-specific 6, 600441	.	.	.	15650770|11175853|1347472|27049947|8336730|21501828|15108283|8595896|7867073|7854420|12122116	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_MOVEMENT_IN_ENVIRONMENT_OF_OTHER_ORGANISM_INVOLVED_IN_SYMBIOTIC_INTERACTION;GO_REGULATION_OF_CELL_ACTIVATION;GO_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_DENDRITIC_CELL_DIFFERENTIATION;GO_ORGAN_REGENERATION;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_BLOOD_PRESSURE;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CELL_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_SECRETION_BY_CELL;GO_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;GO_PROTEIN_MATURATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_BLOOD_VOLUME;GO_METAL_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_PEPTIDYL_SERINE_MODIFICATION;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS;GO_MEMBRANE_FUSION;GO_POSITIVE_REGULATION_OF_TOR_SIGNALING;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_PROTEIN_TARGETING;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGENERATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CELL_CYCLE_ARREST;GO_APOPTOTIC_CELL_CLEARANCE;GO_EXTRACELLULAR_MATRIX_ASSEMBLY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_LEUKOCYTE_DIFFERENTIATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_GROWTH;GO_CATION_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_LEUKOCYTE_CHEMOTAXIS;GO_RESPONSE_TO_INTERFERON_ALPHA;GO_REGULATION_OF_GLOMERULAR_FILTRATION;GO_CELL_SUBSTRATE_ADHESION;GO_WOUND_HEALING;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELL_MOTILITY;GO_PEPTIDE_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SECRETION;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_TARGETING_TO_MEMBRANE;GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_REGULATION_OF_FIBROBLAST_APOPTOTIC_PROCESS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_REGULATION_OF_NATURAL_KILLER_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_CELL_PROLIFERATION;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_INTERACTION_WITH_HOST;GO_VIRAL_GENOME_REPLICATION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_POSITIVE_REGULATION_OF_PHAGOCYTOSIS;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_VIRAL_LIFE_CYCLE;GO_REGULATION_OF_CYTOKINE_SECRETION;GO_NEURON_MIGRATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CYTOKINE_SECRETION;GO_CELLULAR_RESPONSE_TO_NUTRIENT;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_TOR_SIGNALING;GO_CELLULAR_GLUCOSE_HOMEOSTASIS;GO_LYMPHOCYTE_CHEMOTAXIS;GO_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_PROTEIN_TARGETING_TO_PLASMA_MEMBRANE;GO_CARBOHYDRATE_HOMEOSTASIS;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_DRUG;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_KETONE;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_VITAMIN;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_HOMOTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_CELL_DEATH;GO_ACTIVATION_OF_PROTEIN_KINASE_B_ACTIVITY;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_NATURAL_KILLER_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_PHAGOCYTOSIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_GOLGI_VESICLE_TRANSPORT;GO_LYMPHOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_RENAL_SYSTEM_PROCESS;GO_REGULATION_OF_INTERLEUKIN_1_SECRETION;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_RESPONSE_TO_VITAMIN;GO_POSITIVE_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_EXOCYTOSIS;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_INTERLEUKIN_6_PRODUCTION;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PLATELET_DEGRANULATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_RESPONSE_TO_NUTRIENT;GO_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_MULTI_ORGANISM_MEMBRANE_ORGANIZATION;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_ENDOCYTOSIS;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELLULAR_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_TRANSMEMBRANE_TRANSPORT;GO_PHAGOCYTOSIS;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_SIGNAL_PEPTIDE_PROCESSING;GO_REGULATED_EXOCYTOSIS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_CELLULAR_RESPONSE_TO_DRUG;GO_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_RESPONSE_TO_STARVATION;GO_BIOLOGICAL_ADHESION;GO_CELL_CYCLE_PROCESS;GO_PLATELET_AGGREGATION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_HEMOSTASIS;GO_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_TARGETING;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RENAL_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_CYTOPLASMIC_VESICLE_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN;GO_ENDOPLASMIC_RETICULUM	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_AMINO_ACID_BINDING;GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_KINASE_BINDING;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_KINASE_REGULATOR_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RECEPTOR_ACTIVATOR_ACTIVITY;GO_RECEPTOR_AGONIST_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_BINDING_BRIDGING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY_INVOLVED_IN_APOPTOTIC_PROCESS;GO_PHOSPHATIDYLSERINE_BINDING;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MODIFIED_AMINO_ACID_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ORGANIC_ACID_BINDING;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_KINASE_ACTIVATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY;GO_ENZYME_BINDING;GO_PROTEIN_TYROSINE_KINASE_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_RECEPTOR_REGULATOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_REGULATOR_ACTIVITY_INVOLVED_IN_APOPTOTIC_PROCESS;GO_PROTEIN_TYROSINE_KINASE_ACTIVATOR_ACTIVITY	.	.	.	.	Most normal cells were weakly stained or negative. Moderate cytoplasmic staining was observed in epididymis, seminal vesicle and cells in CNS.	http://www.proteinatlas.org/ENSG00000183087-GAS6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 122.0	cytoplasm; microtubule organizing center	.	BP7
L	14	20216352	rs200923273	G	A	222	PASS	OR4Q3	.	exonic	NM_172194	.	missense SNV	OR4Q3:NM_172194:exon1:c.G766A:p.V256I	ENSG00000176294.4,ENST00000331723.1,ENST00000557414.1,ENSG00000182652.1	.	14q11.2	.	.	.	Score=0.952317;Name=chr15:22292725	.	rs200923273	.	.	0.0149502	0.0159	0.00339457	.	0.00096992	276312	0.01303053	18802	0.00855033	0.00792254	.	.	GPCR, rhodopsin-like, 7TM	1.0,T	0.075,B	0.078,B	1,N	0.052865,N	-1.89,N	1.35,T	4.5713	0.144	-0.031	.	.	.	VDB=0.0186851;SGB=-0.693146;RPB=0.945585;MQB=1.77625e-09;MQSB=0.205478;BQB=0.837339;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=317;DP4=78,81,37,45;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:101:.:.	0/0:50:.:.	0/1:125:255,0,255:83,42	0/0:102:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/1:116:255,0,255:76,40	G	A	0	2	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000182652-OR4Q3/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4, PM1
H	14	20389628	rs151012539	C	T	222	PASS	OR4K5	.	exonic	NM_001005483	.	missense SNV	OR4K5:NM_001005483:exon1:c.C863T:p.T288I	ENSG00000176281.4,ENST00000315915.4	.	14q11.2	.	.	.	.	.	rs151012539	.	.	0.0265781	0.0258	0.00539137	.	0.00211358	276782	0.02719195	18682	0.03964244	0.03961268	.	.	.	0.009,D	0.221,B	0.4,B	1,N	0.000157,D	1.935,L	1.27,T	10.8572	2.210	0.287	2.293416,18.12	3.33	.	VDB=0.0783647;SGB=-0.693139;RPB=0.896721;MQB=0.000618997;MQSB=0.540721;BQB=0.999687;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=604;DP4=186,116,70,43;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:50:.:.	0/0:102:.:.	0/0:50:.:.	0/1:123:255,0,255:87,36	0/0:100:.:.	0/0:50:.:.	0/1:173:159,0,255:140,33	0/0:100:.:.	0/1:119:255,0,255:75,44	C	T	0	3	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000176281-OR4K5/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BS1
H	14	20471020	rs539367955	G	A	222	PASS	OR4Q2	.	exonic	NM_001348271	.	missense SNV	OR4Q2:NM_001348271:exon2:c.G698A:p.R233Q	ENST00000541415.1,ENST00000622436.1,ENSG00000196383.5	.	14q11.2	.	.	.	.	.	rs539367955	.	.	0	0.001	0.000199681	.	0.00016835	154440	0.00165678	11468	0.00136081	0.00264085	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	-0.921	-2.681	.	.	.	VDB=0.028701;SGB=-0.693146;RPB=0.993753;MQB=2.44203e-12;MQSB=0.44058;BQB=0.758588;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=103;DP4=18,22,16,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:84:255,0,255:40,44	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	.	.	.	.	.	.	PM1, PM2
M	14	20528309	rs150605467	G	A	148	PASS	OR4L1	.	exonic	NM_001004717	.	missense SNV	OR4L1:NM_001004717:exon1:c.G106A:p.G36S	ENSG00000176246.1,ENST00000315683.1	.	14q11.2	.	.	.	.	.	rs150605467	.	.	0.0182724	0.0179	0.00359425	0.0002	0.00117873	270630	0.01520727	18478	0.01515740	0.01232394	.	.	.	0.14,T	0.002,B	0.001,B	1,N	0.993869,N	-0.05,N	5.0,T	7.7846	-0.793	-3.259	.	.	.	VDB=0.0479602;SGB=-0.692352;RPB=0.600009;MQB=2.84408e-06;MQSB=0.992389;BQB=0.667909;MQ0F=0;ICB=1;HOB=0.5;MQ=32;DP=51;DP4=11,4,15,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:36:181,0,255:15,21	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000176246-OR4L1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4
H	14	21109507	rs143419308	A	G	222	PASS	OR6S1	.	exonic	NM_001001968	.	missense SNV	OR6S1:NM_001001968:exon1:c.T344C:p.L115S	ENST00000320704.3,ENSG00000181803.3	.	14q11.2	.	.	.	.	.	rs143419308	.	.	0.0149502	0.0129	0.00259585	.	0.00073646	277002	0.01054919	18864	0.01535173	0.01232394	.	.	GPCR, rhodopsin-like, 7TM	0.006,D	0.334,B	0.781,P	1,N	0.002138,N	0.985,L	3.97,T	13.3423	2.101	1.614	4.730733,24.6	5.22	.	VDB=0.49994;SGB=-0.693147;RPB=0.338196;MQB=1.09566e-11;MQSB=0.520097;BQB=0.966272;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=119;DP4=27,18,24,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:51:.:.	0/0:50:.:.	0/0:57:.:.	0/0:57:.:.	0/0:50:.:.	0/0:52:.:.	0/0:53:.:.	0/1:91:255,0,255:45,46	A	G	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000181803-OR6S1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1
L	14	24459387	rs201206047	A	G	222	PASS	DHRS4L2	Short-chain dehydrogenase/reductase family, member 4-like 2	splicing	NM_001193635,NM_001193636,NM_001193637,NM_198083	NM_001193635:exon4:c.45-4A>G;NM_001193636:exon2:UTR5;NM_001193637:exon2:UTR5;NM_198083:exon2:c.129-4A>G	.	.	ENST00000537912.5,ENST00000534993.5,ENST00000559411.5,ENST00000397071.5,ENST00000621761.4,ENSG00000187630.15,ENST00000558753.5,ENST00000543805.5,ENST00000335125.10	.	14q11.2	.	.	.	Score=0.970549;Name=chr14:24421111	.	rs201206047	.	.	0.0199336	0.0258	0.00519169	0.0005	0.00210277	275826	0.02854717	18846	0.03031481	0.03609155	0.0001,0.004	-6.6474	.	.	.	.	.	.	.	.	.	-1.185	-2.820	.	.	.	VDB=0.000144754;SGB=-0.693147;RPB=0.760144;MQB=1.40986e-35;MQSB=0.989627;BQB=0.706374;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=349;DP4=76,53,82,49;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:105:.:.	0/1:260:255,0,255:129,131	A	G	0	1	Short-chain dehydrogenase/reductase family, member 4-like 2, 615196	.	.	.	23036705|22891334|18754758	GO_OXIDATION_REDUCTION_PROCESS	.	GO_OXIDOREDUCTASE_ACTIVITY	KEGG_RETINOL_METABOLISM	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000187630-DHRS4L2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 75.5	.	.	BS1
H	14	24761467	rs76421634	G	T	222	PASS	DHRS1	Short-chain dehydrogenase/reductase family, member 1	exonic	NM_001136050,NM_138452	.	missense SNV	DHRS1:NM_001136050:exon6:c.C577A:p.P193T,DHRS1:NM_138452:exon6:c.C577A:p.P193T	ENST00000561137.5,ENST00000558340.1,ENST00000559088.5,ENST00000396813.5,ENST00000559483.5,ENST00000288111.11,ENST00000561273.5,ENSG00000157379.13	.	14q12	.	.	.	.	.	rs76421634	.	.	0.0498339	0.0437	0.00938498	0.0003	0.00283561	276484	0.03725885	18868	0.02759425	0.01936620	.	0.1323	NAD(P)-binding domain	0.0,D	0.998,D	1.0,D	1,D	0.000000,D	4,H	-3.51,D	15.1747	2.654	6.374	5.955249,27.7	5.63	.	VDB=0.00189718;SGB=-0.692914;RPB=0.122857;MQB=2.01608e-07;MQSB=0.998964;BQB=0.427415;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=208;DP4=34,42,40,29;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:59:34,25	0/0:.:50:.	0/0:.:100:.	0/0:.:100:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:101:.	0/1:255,0,255:86:42,44	G	T	0	2	.	.	.	.	.	GO_OXIDATION_REDUCTION_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_OXIDOREDUCTASE_ACTIVITY	.	.	.	.	Most normal tissues showed cytoplasmic staining of moderate to strong intensity. Skeletal muscle which was negative.	http://www.proteinatlas.org/ENSG00000157379-DHRS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 60.1	nucleus; cytoplasm; centrosome	.	BS1, PM1, PP3
L	14	24769861	.	G	GGAT	181	PASS	NOP9	.	exonic	NM_001286367,NM_174913	.	nonframeshift insertion	NOP9:NM_001286367:exon2:c.495_496insGAT:p.E165delinsED,NOP9:NM_174913:exon2:c.495_496insGAT:p.E165delinsED	ENST00000267425.7,ENSG00000196943.12,ENST00000396802.7	.	14q12	.	.	.	.	Score=234;Name="1331817:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.708738;SGB=-0.69312;MQSB=0.880975;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=124;DP4=37,31,19,13;IDV=2;IMF=0.016129;MinDP=42;AN=16;AC=1	GT:DP:PL:AD	0/0:42:.:.	0/0:60:.:.	0/0:50:.:.	./.:.:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:86:.:.	0/1:100:215,0,255:68,32	G	GGAT	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Strong cytoplasmic immunoreactivity was observed in skeletal muscle. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000196943-NOP9/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 11.8	nucleus; nucleoli; cytoplasm	.	BP3, PM2
H	14	25043567	rs752443546	G	A	222	PASS	CTSG	Cathepsin G	exonic	NM_001911	.	stopgain	CTSG:NM_001911:exon4:c.C478T:p.R160X	ENSG00000100448.3,ENST00000216336.2,ENST00000552252.1	.	14q12	.	.	.	.	.	rs752443546	.	.	.	.	.	.	0.00001234	243038	0.00017395	17246	.	.	.	-1.9659	Peptidase S1;Trypsin-like cysteine/serine peptidase domain	.	.	.	1,A	0.916966,N	.	.	14.8308	2.780	3.788	11.767308,38	5.14	.	VDB=0.00530745;SGB=-0.693147;RPB=0.445281;MQB=5.96489e-23;MQSB=0.989958;BQB=0.606178;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=239;DP4=64,21,68,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:181:255,0,255:85,96	G	A	0	1	Cathepsin G, 116830	.	.	.	9585238|20940421|11907564|8090757|10768957|8453108|2569462|11907569|3304423|19648270|10714686|8515885	GO_MODULATION_OF_GROWTH_OF_SYMBIONT_INVOLVED_IN_INTERACTION_WITH_HOST;GO_DISRUPTION_OF_CELLS_OF_OTHER_ORGANISM;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_PROCESS;GO_DISRUPTION_OF_CELLS_OF_OTHER_ORGANISM_INVOLVED_IN_SYMBIOTIC_INTERACTION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_MATURATION;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_REGULATION_OF_HORMONE_LEVELS;GO_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_MODIFICATION_OF_MORPHOLOGY_OR_PHYSIOLOGY_OF_OTHER_ORGANISM;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_GROWTH;GO_DEFENSE_RESPONSE;GO_PEPTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_RESPONSE_TO_BACTERIUM;GO_REGULATION_OF_SYMBIOSIS_ENCOMPASSING_MUTUALISM_THROUGH_PARASITISM;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_MYELOID_LEUKOCYTE_MEDIATED_IMMUNITY;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_INTERACTION_WITH_SYMBIONT;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_NEGATIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_NEUTROPHIL_MEDIATED_IMMUNITY;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_RENIN_ANGIOTENSIN;GO_RESPONSE_TO_FUNGUS;GO_PEPTIDE_HORMONE_PROCESSING;GO_CELL_KILLING;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_PHOSPHORYLATION;GO_DEFENSE_RESPONSE_TO_FUNGUS;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_HORMONE;GO_HORMONE_METABOLIC_PROCESS;GO_ENDOCRINE_PROCESS;GO_DEFENSE_RESPONSE_TO_BACTERIUM;GO_PROTEOLYSIS;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_MEDIATED_BY_A_CHEMICAL_SIGNAL;GO_IMMUNE_EFFECTOR_PROCESS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE	GO_PEPTIDASE_ACTIVITY;GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_SERINE_HYDROLASE_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_LYSOSOME;KEGG_RENIN_ANGIOTENSIN_SYSTEM;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	PID_UPA_UPAR_PATHWAY	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS	Selective cytoplasmic expression in subsets of lymphoid and hematopoietic cells.	http://www.proteinatlas.org/ENSG00000100448-CTSG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	colon: 28.3	.	.	PM1, PM2, PP3
H	14	50655249	rs756565236	G	C	187	PASS	SOS2	Son of sevenless, Drosophila, homolog of, 2	exonic	NM_006939	.	missense SNV	SOS2:NM_006939:exon5:c.C680G:p.A227G	ENST00000556469.5,ENST00000543680.5,ENSG00000100485.11,ENST00000216373.9	.	14q21.3	.	.	.	.	.	rs756565236	.	.	.	.	.	.	0.00003046	262608	0.00044798	17858	0.00038865	.	.	-0.2369	Dbl homology (DH) domain	0.363,T	0.348,B	0.873,P	0.999995,D	0.000002,D	2.015,M	-0.06,T	20.1001	2.760	7.128	4.004305,23.6	5.82	0.0145167697875	VDB=0.509556;SGB=-0.662043;RPB=0.901319;MQB=0.000849019;MQSB=0.797045;BQB=0.993528;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=30;DP4=8,3,5,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:20:220,0,255:11,9	G	C	0	1	Noonan syndrome 9, 616559 (3), Autosomal dominant	.	.	.	1631150|1934068|8276400|25795793	GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_FOCAL_ADHESION;KEGG_GAP_JUNCTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_RAS_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_AXON_GUIDANCE;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR	Cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000100485-SOS2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 25.6	nucleus; vesicles	.	PM1, PM2, PP2
L	14	74971491	rs773339239	G	A	213	PASS	LTBP2	Latent transforming growth factor beta binding protein-2	exonic	NM_000428	.	synonymous SNV	LTBP2:NM_000428:exon30:c.C4443T:p.T1481T	ENST00000556690.5,ENSG00000119681.11,ENST00000261978.8,ENST00000553939.5	.	14q24.3	.	.	.	.	.	rs773339239	.	.	.	.	.	.	0.00002843	246252	0.00040584	17248	0.00019433	.	.	0.8677	.	.	.	.	.	.	.	.	.	1.296	1.049	1.519716,13.42	3.67	.	VDB=0.671425;SGB=-0.693146;RPB=0.763509;MQB=1.98045e-11;MQSB=0.425071;BQB=0.999125;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=104;DP4=34,4,43,1;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:52:.:.	0/0:51:.:.	0/0:53:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/1:82:246,0,255:38,44	G	A	0	1	Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive	.	.	.	19361779|21081970|20179738|22539340|22025892|20617341|7798248|19656777|11104663|10848613	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_SECRETION_BY_CELL;GO_PROTEIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_TARGETING;GO_FIBRIL_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_SECRETION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_GROWTH_FACTOR;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_EXTRACELLULAR_FIBRIL_ORGANIZATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_CALCIUM_ION_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_GROWTH_FACTOR_BINDING	.	.	.	.	Moderate to strong granular positivity was observed in prostate, trophoblastic cells, renal tubules, exocrine pancreas and gall bladder. Most other normal tissues were negative.	http://www.proteinatlas.org/ENSG00000119681-LTBP2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 49.8	nucleus	.	PM2
L	14	77719707	rs150015307	G	A	222	PASS	TMEM63C	.	exonic	NM_020431	.	synonymous SNV	TMEM63C:NM_020431:exon23:c.G2208A:p.T736T	ENST00000298351.4,ENSG00000165548.10,ENST00000557504.1	.	14q24.3	.	.	Score=879;Name=V$SPZ1_01	.	.	rs150015307	.	.	0.0149502	0.0179	0.00359425	8e-05	0.00163161	272124	0.02082664	18678	0.02040420	0.01760563	.	-2.1252	.	.	.	.	.	.	.	.	.	-3.380	-4.597	1.997684,16.20	.	.	VDB=0.18142;SGB=-0.693136;RPB=0.954755;MQB=9.22396e-08;MQSB=0.598307;BQB=0.944196;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=205;DP4=31,46,34,44;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:63:255,0,255:28,35	0/0:50:.:.	0/1:92:255,0,255:49,43	G	A	0	2	.	.	.	.	.	GO_ION_TRANSPORT;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT	.	GO_GATED_CHANNEL_ACTIVITY;GO_CALCIUM_ACTIVATED_CATION_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ION_GATED_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Most of the normal cells showed moderate cytoplasmic positivity. Strong staining was observed in stomach, exocrine pancreas, adrenal cortex, thyroid gland, leydig cells and renal tubules. The spleen, smooth and skeletal muscle were negative.	http://www.proteinatlas.org/ENSG00000165548-TMEM63C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 2.5	centrosome	.	BP7
H	14	77808181	.	T	G	222	PASS	TMED8	.	exonic	NM_001346131,NM_001346133,NM_001346134,NM_213601	.	missense SNV	TMED8:NM_001346131:exon6:c.A926C:p.K309T,TMED8:NM_001346133:exon6:c.A707C:p.K236T,TMED8:NM_001346134:exon6:c.A707C:p.K236T,TMED8:NM_213601:exon6:c.A911C:p.K304T	ENSG00000100580.7,ENST00000216468.7	.	14q24.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00003233	30928	.	.	.	.	.	.	GOLD	0.001,D	0.999,D	1.0,D	1,D	0.000000,D	1.91,L	0.96,T	16.3044	2.330	7.608	6.536809,31	6.08	0.0647908797956	VDB=0.0104041;SGB=-0.693147;RPB=0.561373;MQB=2.21674e-25;MQSB=0.970629;BQB=0.88844;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=250;DP4=75,25,66,16;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:182:255,0,255:100,82	T	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Islets of pancreas, placenta, testis, epididymis, lymphoid organs and bone marrow poetic cells showed moderate to strong cytoplasmic positivity. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000100580-TMED8/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	tonsil: 16.8	.	.	PM1, PM2, PP3
H	14	89131795	rs373476855	A	C	222	PASS	EML5	.	exonic	NM_183387	.	missense SNV	EML5:NM_183387:exon22:c.T3163G:p.L1055V	ENST00000380664.9,ENSG00000165521.15,ENST00000553281.5,ENST00000554922.5	.	14q31.3	.	.	.	.	.	rs373476855	.	.	0	0.001	0.000199681	.	0.00035736	277028	0.00503818	18856	0.00408084	0.00616197	.	0.2345	Quinonprotein alcohol dehydrogenase-like superfamily;WD40-repeat-containing domain;WD40/YVTN repeat-like-containing domain	0.125,T	0.53,P	0.949,P	0.998859,D	0.000007,D	1.525,L	0.65,T	10.4511	2.281	1.899	3.515645,23.1	5.41	0.021650428015	VDB=0.0246184;SGB=-0.693145;RPB=0.289621;MQB=3.58687e-09;MQSB=0.627646;BQB=0.933572;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=94;DP4=20,9,22,18;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:69:255,0,255:29,40	A	C	0	1	.	.	.	.	.	.	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER	.	.	.	.	.	Cytoplasmic expression en several tissues.	http://www.proteinatlas.org/ENSG00000165521-EML5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 5.7	.	.	PM1
H	14	89305789	rs368220069	G	A	147	PASS	TTC8	Tetratricopeptide repeat domain 8	splicing	NM_001288781,NM_001288782,NM_001288783,NM_144596,NM_198309,NM_198310	NM_001288781:exon3:c.115-7G>A;NM_001288782:exon3:UTR5;NM_001288783:exon3:UTR5;NM_144596:exon4:c.145-7G>A;NM_198309:exon3:c.115-7G>A;NM_198310:exon3:c.115-7G>A	.	.	ENST00000358622.9,ENST00000554686.5,ENST00000380656.6,ENST00000622513.4,ENST00000614125.4,ENST00000536576.5,ENST00000338104.10,ENSG00000165533.18,ENST00000556567.5,ENST00000556651.5,ENST00000345383.9,ENST00000555057.5,ENST00000556077.5,ENST00000354441.10,ENST00000346301.8	.	14q31.3	.	.	.	.	.	rs368220069	.	.	.	.	.	.	0.00024578	276666	0.00334076	18858	0.00174961	.	0.0254,0.108	-0.5266	.	.	.	.	.	.	.	.	.	1.008	0.437	.	4.57	.	VDB=0.186673;SGB=-0.662043;RPB=0.566555;MQB=0.000633889;MQSB=0.947368;BQB=0.833227;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=30;DP4=11,1,8,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:21:180,0,223:12,9	G	A	0	1	Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive	.	.	.	14520415|20603001|10579718|19081074|25776555|17574030|20451172|22072986|16308660	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_COGNITION;GO_AXIS_SPECIFICATION;GO_CELL_PART_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_SYSTEM_PROCESS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_PATTERN_SPECIFICATION_PROCESS	GO_MICROTUBULE_CYTOSKELETON;GO_CELL_PROJECTION_MEMBRANE;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CILIARY_MEMBRANE;GO_CELL_PROJECTION_PART;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION;GO_CILIUM;GO_CILIARY_BASAL_BODY	GO_RNA_POLYMERASE_II_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING	.	.	.	.	Strong nuclear immunoreactivity was observed in subset of lymphoid cells, bone marrow poietic cells and squamous epithelial cells. In stomach and prostate, distinct cytoplasmic staining was found. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000165533-TTC8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 64.2	.	.	PM2
L	14	91077099	rs779705640	G	A	219	PASS	TTC7B	.	exonic	NM_001010854,NM_001320421	.	synonymous SNV	TTC7B:NM_001010854:exon17:c.C1953T:p.S651S,TTC7B:NM_001320421:exon17:c.C1647T:p.S549S	ENST00000555894.5,ENST00000328459.10,ENST00000555005.5,ENSG00000165914.14,ENST00000557292.1,ENST00000553972.5,ENST00000554654.5	.	14q32.11	.	.	Score=848;Name=V$ATF_01	.	.	rs779705640	.	.	.	.	.	.	0.00000406	246116	.	.	.	.	.	-0.1169	.	.	.	.	1,D	.	.	.	9.4063	0.141	1.274	1.614566,13.93	.	.	VDB=0.107453;SGB=-0.691153;RPB=0.999318;MQB=2.17534e-07;MQSB=0.738068;BQB=0.585936;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=56;DP4=17,8,15,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:252,0,255:25,18	G	A	0	1	.	.	.	.	.	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PHOSPHORYLATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	.	.	.	.	.	.	Expression in CNS and placenta.	http://www.proteinatlas.org/ENSG00000165914-TTC7B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 39.1	plasma membrane	.	BP7, PM2
H-	14	91749682	rs151102993	G	A	222	PASS	CCDC88C	Coiled-coil domain-containing protein 88C	exonic	NM_001080414	.	missense SNV	CCDC88C:NM_001080414:exon26:c.C4621T:p.R1541C	ENST00000334448.5,ENSG00000015133.18,ENST00000389857.10,ENST00000556726.5,ENST00000331194.8	.	14q32.11	.	.	Score=764;Name=V$PPARA_01	.	.	rs151102993	Uncertain significance;Hydrocephalus;RCV000145442.1;MedGen:OMIM:SNOMED_CT;C0020255:236600:230745008	.	0.00996678	0.0079	0.00159744	.	0.00115060	274640	0.01611531	18802	0.01204819	0.01584507	.	0.1148	.	0.049,D	0.054,B	0.231,B	0.999965,D	0.010180,U	2.395,M	0.7,T	7.8265	1.319	2.708	3.553537,23.1	4.64	.	VDB=0.585518;SGB=-0.69168;RPB=0.938035;MQB=0.000382548;MQSB=0.655397;BQB=0.842579;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=64;DP4=23,5,15,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:10:.:.	0/0:12:.:.	0/0:10:.:.	0/0:30:.:.	0/1:47:255,0,255:28,19	G	A	0	1	Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3), Autosomal recessive; ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant	.	.	.	23042809|21031079|10819331|14750955|15882442|25062847	GO_WNT_SIGNALING_PATHWAY;GO_PROTEIN_OLIGOMERIZATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_PROTEIN_DESTABILIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_PROTEIN_STABILITY;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	.	GO_PROTEIN_SELF_ASSOCIATION;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000015133-CCDC88C/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lymph node: 16.5	nucleus; nucleoli	.	.
L	14	92537379	rs12896583	T	C	30.6602	PASS	ATXN3	Ataxin-3 (josephin)	exonic	NM_001127696,NM_001127697,NM_001164774,NM_001164776,NM_001164777,NM_001164778,NM_001164779,NM_001164780,NM_001164781,NM_001164782,NM_004993,NM_030660	.	missense SNV	ATXN3:NM_001164782:exon2:c.A43G:p.T15A,ATXN3:NM_001164774:exon3:c.A208G:p.T70A,ATXN3:NM_001164777:exon3:c.A88G:p.T30A,ATXN3:NM_001164776:exon4:c.A253G:p.T85A,ATXN3:NM_001164778:exon6:c.A406G:p.T136A	ENST00000555958.5,ENST00000556958.5,ENST00000554994.5,ENST00000532032.5,ENST00000555381.5,ENST00000545170.5,ENST00000556339.5,ENST00000553498.5,ENST00000557311.5,ENST00000556898.5,ENST00000554491.5,ENST00000340660.10,ENST00000556315.5,ENST00000359366.9,ENST00000556220.5,ENST00000553488.5,ENST00000554672.5,ENST00000393287.9,ENSG00000066427.21,ENST00000556374.5,ENST00000554214.5,ENST00000556288.5,ENST00000557030.5,ENST00000502250.5,ENST00000553491.5,ENST00000554040.5,ENST00000554350.5,ENST00000556671.5,ENST00000553287.5,ENST00000554592.5,ENST00000558190.5,ENST00000556274.5,ENST00000553686.5,ENST00000556644.5,ENST00000553309.5,ENST00000503767.5,ENST00000617719.4,ENST00000526245.1,ENST00000555816.5,ENST00000429774.6,ENST00000620536.4,ENST00000553570.5,ENST00000556082.5	.	14q32.12	.	.	.	.	Score=303;Name="1453596:(CTG)n(Simple_repeat)"	rs12896583	Likely benign;not_specified;RCV000116484.2;MedGen;CN169374	.	.	.	.	.	0.02059745	8302	0.01677852	596	0.05548756	0.01156584	.	-0.4294	.	.	.	.	.	.	.	.	.	-0.189	0.179	.	.	.	VDB=0.0117389;SGB=-0.556411;RPB=0.12058;MQB=0.0803868;MQSB=0.8618;BQB=0.12058;MQ0F=0;ICB=1;HOB=0.5;MQ=39;DP=17;DP4=4,3,2,2;MinDP=5;AN=16;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:50:.:.	0/0:23:.:.	0/0:30:.:.	0/0:33:.:.	./.:.:.:.	0/0:17:.:.	0/0:10:.:.	0/1:11:64,0,163:7,4	T	C	0	1	Machado-Joseph disease, 109150 (3), Autosomal dominant	.	.	.	20308049|18385100|21536589|19666958|14559776|11978767|12944474|10369861|10942424|9274833|16407371|11450850|17332375|19783548|7874163|22113611|18449188|15236410|16724006|12782788|19542537|9124802|9292723|19843543|12944423|10732811|9580663|16087686|10915768|15808507|18599482	GO_CHROMOSOME_ORGANIZATION;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CELLULAR_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_HEAT;GO_MACROMOLECULE_DEACYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_MICROTUBULE_BASED_PROCESS;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_DNA_REPAIR;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_COVALENT_CHROMATIN_MODIFICATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_CHROMATIN_ORGANIZATION;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_HEAT;GO_SYNAPTIC_SIGNALING;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_K48_LINKED_DEUBIQUITINATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_EXPLORATION_BEHAVIOR;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_K63_LINKED_DEUBIQUITINATION;GO_ERAD_PATHWAY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_MISFOLDED_PROTEIN;GO_REGULATION_OF_ERAD_PATHWAY;GO_BEHAVIOR;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_PROTEOLYSIS;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_ERAD_PATHWAY;GO_MISFOLDED_OR_INCOMPLETELY_SYNTHESIZED_PROTEIN_CATABOLIC_PROCESS;GO_HISTONE_H3_DEACETYLATION;GO_DNA_METABOLIC_PROCESS	GO_INCLUSION_BODY;GO_NUCLEAR_INCLUSION_BODY;GO_ENDOPLASMIC_RETICULUM_PART;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_ATPASE_BINDING;GO_OMEGA_PEPTIDASE_ACTIVITY;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_EXOPEPTIDASE_ACTIVITY;GO_ENZYME_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS	.	.	.	.	Cytoplasmic and nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000066427-ATXN3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 13.2	.	.	BP6
L	14	92537385	rs141993435	CTTT	C	28.8886	PASS	ATXN3	Ataxin-3 (josephin)	exonic	NM_001127696,NM_001127697,NM_001164774,NM_001164776,NM_001164777,NM_001164778,NM_001164779,NM_001164780,NM_001164781,NM_001164782,NM_004993,NM_030660	.	nonframeshift deletion	ATXN3:NM_001164782:exon2:c.34_36del:p.12_12del,ATXN3:NM_001164774:exon3:c.199_201del:p.67_67del,ATXN3:NM_001164777:exon3:c.79_81del:p.27_27del,ATXN3:NM_001164776:exon4:c.244_246del:p.82_82del,ATXN3:NM_001164778:exon6:c.397_399del:p.133_133del,ATXN3:NM_001164779:exon6:c.519_521del:p.173_174del,ATXN3:NM_001164780:exon7:c.345_347del:p.115_116del,ATXN3:NM_001127697:exon8:c.729_731del:p.243_244del,ATXN3:NM_001164781:exon8:c.672_674del:p.224_225del,ATXN3:NM_001127696:exon9:c.837_839del:p.279_280del,ATXN3:NM_030660:exon9:c.717_719del:p.239_240del,ATXN3:NM_004993:exon10:c.882_884del:p.294_295del	ENST00000502250.5,ENST00000555958.5,ENST00000556671.5,ENST00000359366.9,ENST00000556082.5,ENST00000556220.5,ENST00000556315.5,ENST00000553491.5,ENST00000553570.5,ENST00000554350.5,ENST00000532032.5,ENST00000553686.5,ENST00000556288.5,ENST00000556339.5,ENST00000557030.5,ENST00000555381.5,ENST00000556958.5,ENST00000554592.5,ENST00000340660.10,ENST00000553498.5,ENST00000545170.5,ENST00000553309.5,ENST00000526245.1,ENST00000554994.5,ENST00000557311.5,ENST00000556644.5,ENST00000553287.5,ENST00000554040.5,ENST00000554214.5,ENST00000393287.9,ENST00000429774.6,ENST00000620536.4,ENST00000554672.5,ENST00000503767.5,ENST00000558190.5,ENSG00000066427.21,ENST00000556374.5,ENST00000555816.5,ENST00000617719.4,ENST00000556274.5,ENST00000554491.5,ENST00000556898.5,ENST00000553488.5	.	14q32.12	.	.	.	.	Score=303;Name="1453596:(CTG)n(Simple_repeat)"	rs141993435	Uncertain significance;not_specified;RCV000193973.1;MedGen;CN169374	.	.	.	.	.	0.00377662	228776	0.00107310	15842	0.03523089	0.00975177	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041416,4.229	.	.	INDEL;VDB=0.989831;SGB=-0.511536;MQSB=0.475476;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=16;DP4=5,3,0,3;IDV=2;IMF=0.125;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:33:.:.	0/0:6:.:.	0/0:19:.:.	0/0:10:.:.	0/1:11:63,0,255:8,3	CTTT	C	0	1	Machado-Joseph disease, 109150 (3), Autosomal dominant	.	.	.	20308049|18385100|21536589|19666958|14559776|11978767|12944474|10369861|10942424|9274833|16407371|11450850|17332375|19783548|7874163|22113611|18449188|15236410|16724006|12782788|19542537|9124802|9292723|19843543|12944423|10732811|9580663|16087686|10915768|15808507|18599482	GO_CHROMOSOME_ORGANIZATION;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CELLULAR_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_HEAT;GO_MACROMOLECULE_DEACYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_MICROTUBULE_BASED_PROCESS;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_DNA_REPAIR;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_COVALENT_CHROMATIN_MODIFICATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_CHROMATIN_ORGANIZATION;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_HEAT;GO_SYNAPTIC_SIGNALING;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_K48_LINKED_DEUBIQUITINATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_EXPLORATION_BEHAVIOR;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_K63_LINKED_DEUBIQUITINATION;GO_ERAD_PATHWAY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_MISFOLDED_PROTEIN;GO_REGULATION_OF_ERAD_PATHWAY;GO_BEHAVIOR;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_PROTEOLYSIS;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_ERAD_PATHWAY;GO_MISFOLDED_OR_INCOMPLETELY_SYNTHESIZED_PROTEIN_CATABOLIC_PROCESS;GO_HISTONE_H3_DEACETYLATION;GO_DNA_METABOLIC_PROCESS	GO_INCLUSION_BODY;GO_NUCLEAR_INCLUSION_BODY;GO_ENDOPLASMIC_RETICULUM_PART;GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_ATPASE_BINDING;GO_OMEGA_PEPTIDASE_ACTIVITY;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_EXOPEPTIDASE_ACTIVITY;GO_ENZYME_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS	.	.	.	.	Cytoplasmic and nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000066427-ATXN3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 13.2	.	.	BP3
L-	14	95899669	rs140803384	C	T	222	PASS	SYNE3	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3)	exonic	NM_152592	.	synonymous SNV	SYNE3:NM_152592:exon15:c.G2616A:p.S872S	ENST00000557275.5,ENSG00000176438.12,ENST00000554873.5,ENST00000334258.9	.	14q32.13	.	.	.	.	.	rs140803384	.	.	0.00166113	0.002	0.00159744	0.0005	0.00107507	277190	0.00174881	18870	0.00038865	.	.	-1.5046	.	.	.	.	.	.	.	.	.	-1.582	-4.563	1.445446,13.03	.	.	VDB=0.000766182;SGB=-0.693147;RPB=0.380939;MQB=4.94518e-16;MQSB=0.901037;BQB=0.91858;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=166;DP4=38,23,37,23;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:121:255,0,255:61,60	C	T	0	1	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3), 610861	.	.	.	16330710	.	.	.	.	.	.	.	The adrenal showed moderate nuclear membranous staining. A subset of cells in seminiferus ducts displayed strong cytoplasmic and nuclear membranous positivity. Renal tubules exhibited moderate membranous immunoreactivity. Skeletal myocytes showed moderate cytoplasmic and nuclear staining while hepatocytes and cells in glomeruli displayed moderate nuclear positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000176438-SYNE3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adipose tissue: 9.0	.	.	BP7, PM2
L-	14	95916397	rs149713915	C	T	222	PASS	SYNE3	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3)	exonic	NM_152592	.	synonymous SNV	SYNE3:NM_152592:exon7:c.G1320A:p.E440E	ENST00000553340.1,ENST00000557275.5,ENSG00000176438.12,ENST00000555759.1,ENST00000554873.5,ENST00000334258.9	.	14q32.13	.	.	Score=811;Name=V$RFX1_02	.	.	rs149713915	.	.	0.00996678	0.0079	0.00279553	0.0017	0.00309202	206014	0.00340038	13822	0.00213758	0.00264085	.	-0.2283	.	.	.	.	.	.	.	.	.	2.385	0.251	1.391069,12.74	3.22	.	VDB=0.593121;SGB=-0.692976;RPB=0.228397;MQB=0.00015128;MQSB=0.0757526;BQB=0.0338651;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=73;DP4=20,4,19,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:32:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:50:255,0,255:24,26	C	T	0	1	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3), 610861	.	.	.	16330710	.	.	.	.	.	.	.	The adrenal showed moderate nuclear membranous staining. A subset of cells in seminiferus ducts displayed strong cytoplasmic and nuclear membranous positivity. Renal tubules exhibited moderate membranous immunoreactivity. Skeletal myocytes showed moderate cytoplasmic and nuclear staining while hepatocytes and cells in glomeruli displayed moderate nuclear positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000176438-SYNE3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adipose tissue: 9.0	.	.	.
L	14	96730905	rs117760968	T	C	222	PASS	BDKRB1	Bradykinin receptor B1	exonic	NM_000710	.	synonymous SNV	BDKRB1:NM_000710:exon3:c.T886C:p.L296L	ENST00000611804.1,ENST00000553638.1,ENST00000553356.1,ENSG00000100739.10,ENST00000216629.10,ENSG00000258793.1	.	14q32.2	.	.	.	.	.	rs117760968	.	.	0.0215947	0.0208	0.00419329	7.7e-05	0.00163764	277228	0.02215156	18870	0.02215313	0.02112676	.	.	.	.	.	.	.	.	.	.	.	-0.677	-0.636	.	.	.	VDB=0.443477;SGB=-0.693147;RPB=0.998979;MQB=3.20315e-15;MQSB=0.598303;BQB=0.725652;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=134;DP4=34,25,33,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:93:.:.	0/1:105:255,0,255:59,46	T	C	0	1	Bradykinin receptor B1, 600337	.	.	.	8660997|8808279|17452647|7495867|8063797|19561616|14764727|8651911	GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CHEMICAL_HOMEOSTASIS;GO_CIRCULATORY_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_GROWTH;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_SENSORY_PERCEPTION_OF_PAIN;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_PROTEIN_KINASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_BACTERIUM;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_BLOOD_PRESSURE;GO_NEGATIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_ION_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_ENDOPLASMIC_RETICULUM	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_AMIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	Moderate to strong cytoplasmic positivity was observed in most normal tissues. Lymphoid tissues and myocytes were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000100739-BDKRB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 4.7	.	.	BP7
L	14	96769601	rs149087645	G	A	222	PASS	ATG2B	Autophagy 2, S. cerevisiae, homolog of, B	splicing	NM_018036	NM_018036:exon33:c.4843-9C>T	.	.	ENST00000261834.9,ENST00000359933.5,ENSG00000066739.11	.	14q32.2	.	.	.	.	.	rs149087645	.	.	0.0531561	0.0526	0.0251597	0.0005	0.01035161	235036	0.04884650	15518	0.04469491	0.04585538	0,0	0.8618	.	.	.	.	.	.	.	.	.	-0.162	-0.018	.	.	.	VDB=0.00709452;SGB=-0.693143;RPB=0.88257;MQB=1.75795e-11;MQSB=0.391015;BQB=0.332247;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=102;DP4=13,27,21,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:78:255,0,255:40,38	G	A	0	1	Autophagy 2, S. cerevisiae, homolog of, B, 616226	.	.	.	25356988|19197948|22219374	GO_MACROAUTOPHAGY;GO_AUTOPHAGY;GO_ORGANELLE_ASSEMBLY;GO_VACUOLE_ORGANIZATION;GO_MITOCHONDRION_ORGANIZATION;GO_NUCLEOPHAGY;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_AUTOPHAGOSOME_ORGANIZATION;GO_ORGANELLE_DISASSEMBLY	GO_PRE_AUTOPHAGOSOMAL_STRUCTURE;GO_LIPID_PARTICLE;GO_PRE_AUTOPHAGOSOMAL_STRUCTURE_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE	.	.	.	.	.	High and selective cytoplasmic expression in neuroendocrine cells, Purkinje cells and endothelial cells.	http://www.proteinatlas.org/ENSG00000066739-ATG2B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 9.2	nucleus but not nucleoli	.	BS1
H	14	97029174	.	A	C	222	PASS	PAPOLA	Poly(A) polymerase	exonic	NM_001293627,NM_001293628,NM_001293632,NM_032632	.	missense SNV	PAPOLA:NM_001293632:exon19:c.A1336C:p.T446P,PAPOLA:NM_001293627:exon21:c.A2083C:p.T695P,PAPOLA:NM_001293628:exon21:c.A1336C:p.T446P,PAPOLA:NM_032632:exon21:c.A2086C:p.T696P	ENST00000216277.12,ENST00000553689.5,ENST00000392990.6,ENST00000555508.1,ENST00000556459.1,ENST00000555626.5,ENST00000553940.1,ENSG00000090060.17	.	14q32.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000407	245530	0.00005807	17220	.	.	.	-3.9524	.	0.042,D	0.178,B	0.392,B	0.839221,D	0.009665,N	1.245,L	.	9.6209	2.273	1.390	2.563322,19.87	5.93	0.0025218873661	VDB=0.00064491;SGB=-0.692562;RPB=0.825367;MQB=2.78779e-05;MQSB=0.922787;BQB=0.913572;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=52;DP4=9,12,13,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:27:.:.	0/0:30:.:.	0/0:10:.:.	0/1:43:255,0,255:21,22	A	C	0	1	Poly(A) polymerase, 605553	.	.	.	8302877|10429366	GO_REGULATION_OF_MRNA_METABOLIC_PROCESS;GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_MRNA_3_END_PROCESSING;GO_MRNA_3_END_PROCESSING;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION;GO_RNA_POLYADENYLATION;GO_MRNA_METABOLIC_PROCESS;GO_RNA_3_END_PROCESSING;GO_RNA_SPLICING	.	GO_MAGNESIUM_ION_BINDING;GO_ADENYLYLTRANSFERASE_ACTIVITY;GO_MANGANESE_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_NUCLEOTIDYLTRANSFERASE_ACTIVITY	KEGG_RNA_DEGRADATION	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	General nuclear expression.	http://www.proteinatlas.org/ENSG00000090060-PAPOLA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 87.4	nucleus but not nucleoli	.	PM2
L*	14	100820846	rs190400670	C	T	222	PASS	WARS	Tryptophanyl-tRNA synthetase	exonic	NM_004184,NM_173701,NM_213645,NM_213646	.	synonymous SNV	WARS:NM_213645:exon4:c.G357A:p.T119T,WARS:NM_213646:exon4:c.G357A:p.T119T,WARS:NM_004184:exon5:c.G480A:p.T160T,WARS:NM_173701:exon5:c.G480A:p.T160T	ENST00000392882.6,ENST00000557135.5,ENST00000358655.8,ENST00000557722.5,ENST00000553395.5,ENSG00000140105.17,ENST00000555063.5,ENST00000554084.5,ENST00000556435.5,ENST00000556338.5,ENST00000556645.5,ENST00000556504.5,ENST00000554331.5,ENST00000557297.5,ENST00000355338.6,ENST00000553808.5,ENST00000344102.9	.	14q32.2	.	.	.	.	.	rs190400670	.	.	0.00166113	0.003	0.000599042	.	0.00014436	277082	0.00180218	18866	0.00544112	0.00176056	.	-0.6213	.	.	.	.	.	.	.	.	.	0.104	-0.215	2.326774,18.34	.	.	VDB=0.167872;SGB=-0.693147;RPB=0.212881;MQB=2.76578e-13;MQSB=0.0675132;BQB=0.694898;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=158;DP4=33,27,41,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:108:255,0,255:60,48	C	T	0	1	Tryptophanyl-tRNA synthetase, 191050	.	.	.	8646895|110526|564085|1765274|8439731|11474204|25035493|11773625|829178|7814400|28369220|8856077|11773626	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_AMINO_ACID_ACTIVATION;GO_TRNA_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ANGIOGENESIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	.	GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY	KEGG_TRYPTOPHAN_METABOLISM;KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_CYTOSOLIC_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	.	http://www.proteinatlas.org/ENSG00000140105-WARS/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 207.6	cytoplasm	.	BP7
H	14	102808334	rs769054637	G	A	222	PASS	ZNF839	.	exonic	NM_001267827,NM_001267828,NM_018335	.	missense SNV	ZNF839:NM_001267827:exon8:c.G2254A:p.E752K,ZNF839:NM_001267828:exon8:c.G2254A:p.E752K,ZNF839:NM_018335:exon8:c.G2602A:p.E868K	ENST00000558850.5,ENST00000442396.6,ENST00000559098.5,ENST00000420933.2,ENST00000561251.5,ENST00000559514.5,ENST00000558462.5,ENST00000557803.5,ENSG00000022976.15,ENSG00000100865.14,ENST00000559185.5,ENST00000559155.5,ENST00000558490.5	.	14q32.31	.	.	.	.	.	rs769054637	.	.	.	.	.	.	0.00005287	245888	0.00011610	17226	0.00058298	.	.	.	.	.	0.954,D	1.0,D	0.999997,N	0.065348,N	1.7,L	1.73,T	13.9137	2.641	2.821	5.512530,26.3	5.32	0.0379721217316	VDB=0.0106969;SGB=-0.693147;RPB=0.0241936;MQB=1.18473e-12;MQSB=0.175725;BQB=0.322965;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=117;DP4=10,40,21,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:96:255,0,255:50,46	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Mainly nuclear expression at variable levels in all cell types.	http://www.proteinatlas.org/ENSG00000022976-ZNF839/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 22.7	plasma membrane; nucleus but not nucleoli	.	PM2
H	14	103569058	.	G	T	222	PASS	EXOC3L4	.	exonic	NM_001077594	.	missense SNV	EXOC3L4:NM_001077594:exon2:c.G998T:p.G333V	ENSG00000205436.7,ENST00000560925.5,ENST00000559116.1,ENST00000380069.7	CpG: 258	14q32.32	.	.	Score=980;Name=V$AP2GAMMA_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	.	0.036,D	0.99,D	0.999,D	0.999872,D	0.003827,N	2.48,M	3.27,T	9.136	2.124	1.831	5.237849,25.6	4.09	0.01948806582	VDB=0.207797;SGB=-0.693136;RPB=0.388701;MQB=7.74027e-09;MQSB=0.862205;BQB=0.8934;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=95;DP4=21,17,24,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:73:255,0,255:38,35	G	T	0	1	.	.	.	.	.	GO_SECRETION_BY_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SECRETION;GO_PROTEIN_LOCALIZATION;GO_PROTEIN_COMPLEX_LOCALIZATION;GO_EXOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_PROTEIN_COMPLEX_LOCALIZATION	GO_CYTOPLASMIC_REGION;GO_CELL_CORTEX_PART;GO_EXOCYST;GO_CELL_CORTEX	GO_SNARE_BINDING	.	.	.	.	Most of the normal cells showed weak to moderate cytoplasmic staining with additional membranous positivity in several cases. Exocrine pancreas, gall bladder and placental trophoblasts were strongly stained. Cells of CNS and pancreatic islet cells were negative.	http://www.proteinatlas.org/ENSG00000205436-EXOC3L4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 4.6	.	.	PM2
L	14	104199036	rs114770841	A	G	222	PASS	ZFYVE21	Zinc finger FYVE domain-containing protein 21	exonic	NM_001198953,NM_024071	.	synonymous SNV	ZFYVE21:NM_024071:exon6:c.A606G:p.T202T,ZFYVE21:NM_001198953:exon7:c.A660G:p.T220T	ENST00000555501.1,ENST00000311141.6,ENST00000554757.1,ENSG00000100711.13,ENST00000216602.10	.	14q32.33	.	.	.	.	.	rs114770841	.	.	0.0265781	0.0218	0.00539137	7.7e-05	0.00200194	276232	0.02389608	18706	0.01943257	0.02288732	.	1.0724	.	.	.	.	.	.	.	.	.	-0.958	-0.904	.	.	.	VDB=0.0324599;SGB=-0.693147;RPB=0.19174;MQB=4.2799e-15;MQSB=0.235342;BQB=0.981647;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=264;DP4=59,48,38,43;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/1:107:255,0,255:62,45	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:81:255,0,255:45,36	A	G	0	2	Zinc finger FYVE domain-containing protein 21, 613504	.	.	.	20439989	.	GO_VACUOLE;GO_CELL_JUNCTION;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION;GO_ENDOSOME	.	.	.	.	.	Cytoplasmic and membranous expression in a few tissues, mainly glomeruli.	http://www.proteinatlas.org/ENSG00000100711-ZFYVE21/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 55.5	.	.	BP7
L	14	104206854	rs3742368	C	T	222	PASS	PPP1R13B	.	exonic	NM_015316	.	synonymous SNV	PPP1R13B:NM_015316:exon12:c.G1899A:p.T633T	ENST00000556597.1,ENST00000557082.5,ENSG00000088808.16,ENST00000555391.5,ENST00000556325.1,ENST00000202556.13	.	14q32.33	.	.	Score=797;Name=V$ER_Q6	.	.	rs3742368	.	.	0.0265781	0.0218	0.00599042	8e-05	0.00229562	267030	0.02562418	18264	0.01962689	0.02288732	.	-0.0207	.	.	.	.	.	.	.	.	.	-1.875	-1.181	1.412694,12.85	.	.	VDB=0.181151;SGB=-0.693146;RPB=0.0677572;MQB=8.78119e-16;MQSB=0.64402;BQB=0.810705;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=265;DP4=60,45,62,36;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/1:99:255,0,255:55,44	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:99:.:.	0/1:104:255,0,255:50,54	C	T	0	2	.	.	.	.	.	GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_MITOCHONDRIAL_TRANSPORT;GO_REGULATION_OF_PROTEIN_INSERTION_INTO_MITOCHONDRIAL_MEMBRANE_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_MITOCHONDRION	GO_TRANSCRIPTION_FACTOR_BINDING;GO_P53_BINDING	.	PID_P53_DOWNSTREAM_PATHWAY	.	.	Ubiquitous cytoplasmic and nuclear expression.	http://www.proteinatlas.org/ENSG00000088808-PPP1R13B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 25.9	nucleus but not nucleoli; cytoplasm	.	BP7
H	14	104471745	.	A	G	222	PASS	TDRD9	.	splicing	NM_153046	NM_153046:exon15:c.1713+3A>G	.	.	ENST00000557332.5,ENSG00000156414.18,ENST00000409874.8,ENST00000339063.6,ENST00000466378.1	.	14q32.33	.	.	.	.	.	.	.	.	.	.	.	.	0.00000406	246076	0.00005799	17244	.	.	0.9681,0.736	-14.7330	.	.	.	.	.	.	.	.	.	0.137	1.017	1.638270,14.06	2.16	.	VDB=0.342197;SGB=-0.693147;RPB=0.999423;MQB=2.71026e-13;MQSB=0.995468;BQB=0.930213;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=130;DP4=25,26,22,28;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:101:.:.	0/1:101:255,0,255:51,50	A	G	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MALE_GAMETE_GENERATION;GO_RNA_PROCESSING;GO_SEXUAL_REPRODUCTION;GO_DNA_MODIFICATION;GO_ORGANELLE_FISSION;GO_NCRNA_METABOLIC_PROCESS;GO_MALE_MEIOSIS;GO_GENE_SILENCING;GO_DNA_METHYLATION_INVOLVED_IN_GAMETE_GENERATION;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_DNA_METHYLATION_OR_DEMETHYLATION;GO_PIRNA_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_FERTILIZATION;GO_REPRODUCTION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_GENE_SILENCING_BY_RNA;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS;GO_DNA_ALKYLATION	GO_RIBONUCLEOPROTEIN_GRANULE;GO_POLE_PLASM;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RNA_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000156414-TDRD9/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	thyroid gland: 5.6	.	.	PM2, PP3
H	14	105349504	rs187049858	C	T	222	PASS	CEP170B	.	exonic	NM_001112726,NM_015005	.	missense SNV	CEP170B:NM_015005:exon7:c.C500T:p.S167L,CEP170B:NM_001112726:exon8:c.C710T:p.S237L	ENST00000414716.7,ENST00000453495.2,ENSG00000099814.15,ENST00000556508.5	.	14q32.33	.	.	Score=812;Name=V$OLF1_01	.	.	rs187049858	.	.	0.0299003	0.0228	0.00459265	0.0002	0.00263982	268200	0.03609023	18620	0.03032659	0.02292769	.	-0.0249	.	0.043,D	0.054,B	0.688,P	1,N	0.900859,U	1.83,L	2.11,T	6.3645	-0.114	0.966	.	.	.	VDB=0.504614;SGB=-0.693147;RPB=0.951104;MQB=2.81733e-27;MQSB=0.942609;BQB=0.775356;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=239;DP4=69,31,76,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:203:255,0,255:100,103	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in a subset of tissues including neuronal cells.	http://www.proteinatlas.org/ENSG00000099814-CEP170B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 17.4	centrosome; cytoplasm; cytoskeleton (microtubules)	.	BS1
H	14	105452941	rs142255517	G	A	222	PASS	C14orf79	.	exonic	NM_174891	.	missense SNV	C14orf79:NM_174891:exon1:c.G173A:p.R58H	ENST00000547315.5,ENSG00000140104.13,ENST00000389964.7,ENST00000548641.5,ENST00000551606.5,ENST00000551046.5	.	14q32.33	.	.	.	.	.	rs142255517	.	.	0.0149502	0.0198	0.00419329	8e-05	0.00107881	277156	0.01393894	18868	0.01476875	0.01496479	.	.	.	0.133,T	0.002,B	0.066,B	1,N	0.000001,U	0.69,N	.	3.1985	-0.140	0.222	2.390262,18.76	.	.	VDB=0.0145772;SGB=-0.693147;RPB=0.922173;MQB=0;MQSB=0.64543;BQB=0.943445;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=477;DP4=116,75,117,58;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:366:255,0,255:191,175	G	A	0	1	.	.	.	.	.	GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL	.	GO_CLATHRIN_BINDING	.	.	.	.	Cytoplasmic and membranous expression, most abundant in glandular cells of the gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000140104-C14orf79/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 15.3	nucleus but not nucleoli; cytoplasm; plasma membrane	.	.
L	15	20739934	.	TCTCCTC	T	116	PASS	GOLGA6L6	.	exonic	NM_001145004	.	unknown	UNKNOWN	ENST00000619213.1,ENSG00000277322.1,ENST00000619213.1_2	.	15q11.2	.	.	.	Score=0.996262;Name=chr15:23301642	Score=496;Name="1483529:CT-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	0.00335796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.138745;SGB=-0.691153;MQSB=0.272032;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=55;DP4=3,29,0,18;IDV=2;IMF=0.0363636;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:18:.:.	0/0:37:.:.	0/0:34:.:.	0/0:5:.:.	0/0:5:.:.	0/0:27:.:.	0/0:21:.:.	0/1:50:149,0,223:32,18	TCTCCTC	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000277322-GOLGA6L6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	PM2
L	15	22369167	rs546830219	G	A	89	PASS	OR4M2	.	exonic	NM_001004719	.	missense SNV	OR4M2:NM_001004719:exon1:c.G592A:p.V198M	ENST00000639059.1,ENST00000640228.1,ENST00000640778.1,ENSG00000280709.2,ENSG00000284500.1,ENSG00000274102.1,ENST00000614722.1,ENST00000332663.3_1,ENST00000638243.1,ENST00000628444.1,ENST00000332663.3,ENST00000638815.1,ENST00000625989.2,ENST00000640733.1,ENSG00000182974.3	.	15q11.2	.	.	.	Score=0.952317;Name=chr14:20176317	.	rs546830219	.	.	0.00166113	0.002	0.000399361	.	0.00002031	246150	0.00029009	17236	0.00038880	0.00088028	.	.	GPCR, rhodopsin-like, 7TM	0.071,T	0.889,P	0.985,D	0.596067,N	0.000412,D	0.56,N	1.17,T	10.8078	1.422	0.801	4.786688,24.7	2.5	0.0101128522793	VDB=0.00868311;SGB=-0.693147;RPB=0.853404;MQB=0.28013;MQSB=2.14769e-09;BQB=0.646716;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=716;DP4=247,209,68,49;MinDP=143;AN=18;AC=1	GT:DP:PL:AD	0/0:143:.:.	0/0:253:.:.	0/0:327:.:.	0/0:515:.:.	0/0:518:.:.	0/0:279:.:.	0/0:251:.:.	0/0:606:.:.	0/1:573:123,0,255:456,117	G	A	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000274102-OR4M2/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.1	.	.	PM1, PM2
H	15	23890252	rs764155137	G	A	222	PASS	MAGEL2	MAGE-like 2	exonic	NM_019066	.	missense SNV	MAGEL2:NM_019066:exon1:c.C2638T:p.R880C	ENST00000314233.2,ENSG00000179449.2,ENST00000532292.2,ENSG00000254585.2	.	15q11.2	.	.	Score=770;Name=V$PAX5_02	.	.	rs764155137	.	.	.	.	.	.	0.00006857	277084	0.00068892	18870	.	.	.	.	MAGE homology domain	.	.	.	.	.	.	.	.	1.298	1.741	4.718324,24.6	3.27	0.0953546424909	VDB=0.0427291;SGB=-0.693147;RPB=0.803751;MQB=2.2562e-25;MQSB=0.478571;BQB=0.904062;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=224;DP4=38,49,46,42;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:175:255,0,255:87,88	G	A	0	1	Schaaf-Yang syndrome, 615547 (3), Autosomal dominant	.	.	.	17728320|10556298|27195816|17893678|10915770|15649943|26365340|25231870|24076603|20876615|25473036|28281571	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_ACTIN_NUCLEATION;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_VACUOLAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_PROTEIN_POLYUBIQUITINATION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_NUCLEATION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_UBIQUITINATION;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RHYTHMIC_PROCESS;GO_PROTEIN_K63_LINKED_UBIQUITINATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ACTIN_FILAMENT_ORGANIZATION;GO_ACTIN_NUCLEATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_CYTOSOLIC_TRANSPORT	GO_RETROMER_COMPLEX;GO_VACUOLE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_EARLY_ENDOSOME;GO_ENDOSOME	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000254585-MAGEL2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 1.7	.	.	BP1, PM2, PP3
H	15	28437229	rs184647895	T	C	222	PASS	HERC2	HECT domain and RCC1-like domain 2	exonic	NM_004667	.	missense SNV	HERC2:NM_004667:exon53:c.A8329G:p.M2777V	ENST00000567869.1,ENST00000261609.11,ENSG00000128731.15	.	15q13.1	.	.	.	.	.	rs184647895	.	.	.	.	.	.	0.00024908	277016	0.00328668	18864	0.00330354	0.00264085	.	1.3991	Anaphase-promoting complex, subunit 10/DOC domain;Galactose-binding domain-like	0.602,T	0.011,B	0.012,B	0.999622,D	0.005498,N	0.55,N	0.02,T	10.1854	0.456	3.289	0.981341,10.55	3.18	0.00296529396262	VDB=0.0223458;SGB=-0.693145;RPB=0.173148;MQB=6.79404e-12;MQSB=0.703078;BQB=0.392623;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=129;DP4=40,16,24,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:96:255,0,255:56,40	T	C	0	1	Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive	.	.	.	20023648|22065085|17236130|18172690|23243086|9949213|18252221|21493713|9689098|1495987|9205841|23065719|18252222|17952075|22234890|20631078	GO_CELLULAR_CATABOLIC_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SEXUAL_REPRODUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_DNA_REPAIR;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_PROTEIN_SUMOYLATION;GO_PROTEIN_UBIQUITINATION;GO_NON_RECOMBINATIONAL_REPAIR;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_REPRODUCTION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_PROTEOLYSIS;GO_DNA_METABOLIC_PROCESS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_ORGANELLE_INNER_MEMBRANE;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MITOCHONDRIAL_ENVELOPE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_BINDING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_TRANSITION_METAL_ION_BINDING;GO_SUMO_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	General cytoplasmic expression that in a few tissues was combined with nuclear expression.	http://www.proteinatlas.org/ENSG00000128731-HERC2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 8.9	vesicles	.	PM1, PM2
L	15	30906677	rs368731043	GCAGGACCAC	G	222	PASS	GOLGA8H	.	exonic	NM_001282490	.	nonframeshift deletion	GOLGA8H:NM_001282490:exon19:c.1813_1821del:p.605_607del	ENSG00000261794.1,ENST00000566740.1	.	15q13.2	.	.	.	Score=0.995161;Name=chr15:32681446	.	rs368731043	.	.	.	.	.	.	0.00127384	261414	0.00010781	18552	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248317,5.342	.	.	INDEL;VDB=0.0707836;SGB=-0.693144;MQSB=0.934976;MQ0F=0;ICB=1;HOB=0.5;MQ=31;DP=103;DP4=27,27,15,24;IDV=40;IMF=0.38835;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:39:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:93:255,0,255:54,39	GCAGGACCAC	G	0	1	.	.	.	.	.	.	GO_GOLGI_APPARATUS	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000261794-GOLGA8H/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 2.5	.	.	PM2, PM4
H-	15	39885853	rs779002058	G	A	222	PASS	THBS1	Thrombospondin 1	exonic	NM_003246	.	missense SNV	THBS1:NM_003246:exon19:c.G3251A:p.G1084E	ENST00000484734.1,ENSG00000137801.10,ENSG00000259279.1,ENST00000560769.1,ENST00000260356.5	.	15q14	.	.	.	.	.	rs779002058	.	.	.	.	.	.	0.00013024	276410	0.00116637	18862	0.00291489	0.00352113	.	0.0164	Concanavalin A-like lectin/glucanase domain;Thrombospondin, C-terminal	0.045,D	1.0,D	1.0,D	1,D	0.003293,N	1.94,M	-3.18,D	19.9886	2.727	9.873	5.319754,25.8	5.78	0.13642116568	VDB=0.0163771;SGB=-0.693097;RPB=0.13266;MQB=1.80958e-07;MQSB=0.91766;BQB=0.501144;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=65;DP4=4,19,5,25;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:30:.:.	0/0:32:.:.	0/0:31:.:.	0/0:30:.:.	0/0:33:.:.	0/0:30:.:.	0/0:50:.:.	0/1:53:255,0,255:23,30	G	A	0	1	Thrombospondin 1, 188060	.	Autism, increased risk(CM1413702)	GGA-GAA|Gly1084Glu|c.3251G>A|p.G1084E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=25304225&amp;dopt=Abstract)	25304225|2435757|14561896|15707899|11134136|3461443|3305519|18455130|16150726|2335352|9486968|16847352|16141331|11606713|17413041|16294224|16754856|12498716|11927940|2341158	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_MACROPHAGE_ACTIVATION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_WOUND_HEALING;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_REGULATION_OF_ORGANIC_ACID_TRANSPORT;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_STEROID_HORMONE;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_SECRETION_BY_CELL;GO_REGULATION_OF_COAGULATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_PEPTIDE_CROSS_LINKING;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_RESPONSE_TO_HEAT;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_COAGULATION;GO_REGULATION_OF_MACROPHAGE_ACTIVATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_NEGATIVE_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_REGULATION_OF_FIBROBLAST_MIGRATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CELL_CYCLE_ARREST;GO_APOPTOTIC_CELL_CLEARANCE;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_FIBROBLAST_MIGRATION;GO_PHAGOCYTOSIS_ENGULFMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION;GO_RESPONSE_TO_METAL_ION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_DEFENSE_RESPONSE;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_SECRETION;GO_NEGATIVE_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_MAGNESIUM_ION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_ANION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_MACROPHAGE_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SPROUTING_ANGIOGENESIS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION;GO_BEHAVIORAL_RESPONSE_TO_PAIN;GO_RESPONSE_TO_PAIN;GO_REGULATION_OF_FIBRINOLYSIS;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_RESPONSE_TO_KETONE;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_PROTEIN_O_LINKED_FUCOSYLATION;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_TRANSFORMING_GROWTH_FACTOR_BETA_PRODUCTION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_FATTY_ACID_TRANSPORT;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_GRANULOCYTE_CHEMOTAXIS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_REGULATION_OF_LIPID_TRANSPORT;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_POSITIVE_REGULATION_OF_MACROPHAGE_CHEMOTAXIS;GO_REGULATION_OF_CGMP_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_HEAT;GO_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PROTEIN_MATURATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_ANION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_PROGESTERONE;GO_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSFORMING_GROWTH_FACTOR_BETA_PRODUCTION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_LIPID_TRANSPORT;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_RESPONSE_TO_DRUG;GO_POSITIVE_REGULATION_OF_WOUND_HEALING;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_FUCOSYLATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CHRONIC_INFLAMMATORY_RESPONSE;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_ORGANIC_ACID_TRANSPORT;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_MEMBRANE_INVAGINATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_EXOCYTOSIS;GO_GLYCOSYLATION;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS;GO_REGULATION_OF_ION_TRANSPORT;GO_PLATELET_DEGRANULATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ANGIOGENESIS;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_CHEMOTAXIS;GO_ACTIVATION_OF_MAPK_ACTIVITY;GO_REGULATION_OF_ANION_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_MATURATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_PHAGOCYTOSIS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATED_EXOCYTOSIS;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BEHAVIOR;GO_POSITIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_BIOLOGICAL_ADHESION;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_EXTRACELLULAR_MATRIX;GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_SARCOPLASM;GO_CYTOPLASMIC_VESICLE_PART;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_CYTOKINE_BINDING;GO_AMINO_ACID_BINDING;GO_SULFUR_COMPOUND_BINDING;GO_PROTEIN_LIPID_COMPLEX_BINDING;GO_HEPARIN_BINDING;GO_LOW_DENSITY_LIPOPROTEIN_PARTICLE_BINDING;GO_COLLAGEN_BINDING;GO_EXTRACELLULAR_MATRIX_BINDING;GO_CALCIUM_ION_BINDING;GO_GLYCOSAMINOGLYCAN_BINDING;GO_TRANSFORMING_GROWTH_FACTOR_BETA_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_FIBROBLAST_GROWTH_FACTOR_BINDING;GO_FIBRONECTIN_BINDING;GO_PHOSPHATIDYLSERINE_BINDING;GO_MODIFIED_AMINO_ACID_BINDING;GO_PROTEOGLYCAN_BINDING;GO_INTEGRIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_ORGANIC_ACID_BINDING;GO_GLYCOPROTEIN_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_LAMININ_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_GROWTH_FACTOR_BINDING	KEGG_P53_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_BLADDER_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	General cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000137801-THBS1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 276.6	.	.	PM1, PM2, PP3
L	15	41104946	rs76824203	T	C	222	PASS	ZFYVE19	.	exonic	NM_001077268,NM_001258421,NM_032850	.	synonymous SNV	ZFYVE19:NM_001077268:exon7:c.T876C:p.N292N,ZFYVE19:NM_001258421:exon7:c.T351C:p.N117N,ZFYVE19:NM_032850:exon8:c.T846C:p.N282N	ENST00000570108.5,ENST00000355341.8,ENSG00000166140.17,ENST00000564258.5,ENST00000561768.5,ENST00000560078.1,ENST00000336455.9,ENST00000299173.14,ENST00000569057.5,ENST00000566407.5,ENST00000561617.1	.	15q15.1	.	.	.	.	.	rs76824203	.	.	0.0182724	0.0179	0.00399361	.	0.00147902	275182	0.01802184	18866	0.02642829	0.02640845	.	-0.8028	.	.	.	.	.	.	.	.	.	0.010	-0.078	.	.	.	VDB=0.785981;SGB=-0.693132;RPB=0.791277;MQB=1.01754e-09;MQSB=0.97392;BQB=0.996514;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=182;DP4=41,34,39,23;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:76:255,0,255:42,34	0/1:61:255,0,255:33,28	T	C	0	2	.	.	.	.	.	GO_CELL_DIVISION;GO_NEGATIVE_REGULATION_OF_CELL_DIVISION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_CYTOKINESIS;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_CELL_CYCLE;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_DIVISION_SITE;GO_CELL_SURFACE;GO_MIDBODY;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_PHOSPHATIDYLINOSITOL_3_PHOSPHATE_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Normal tissues displayed moderate to strong cytoplasmic staining combined with membranous positivity in several cases. The liver was weakly stained.	http://www.proteinatlas.org/ENSG00000166140-ZFYVE19/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 10.2	.	.	BP7
H	15	41797399	rs371913807	T	G	222	PASS	LTK	Leukocyte tyrosine kinase	splicing	NM_001135685,NM_002344,NM_206961	NM_001135685:exon13:c.1535+7A>C;NM_002344:exon15:c.1925+7A>C;NM_206961:exon14:c.1742+7A>C	.	.	ENST00000355166.9,ENST00000563518.5,ENST00000453182.2,ENSG00000062524.15,ENST00000561619.5,ENST00000263800.10	.	15q15.1	.	.	.	.	.	rs371913807	.	.	0.00166113	0.002	0.000399361	.	0.00000407	245678	0.00005798	17246	0.00019433	.	0,0.032	-0.3318	.	.	.	.	.	.	.	.	.	0.642	1.302	.	.	.	VDB=0.103741;SGB=-0.693146;RPB=0.893938;MQB=5.99929e-07;MQSB=0.180735;BQB=0.95813;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=100;DP4=21,18,16,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:68:.:.	0/0:57:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/1:82:255,0,255:39,43	T	G	0	1	Leukocyte tyrosine kinase, 151520	.	.	.	2836739|2156206|14695357|8661736|7851890|7685902	GO_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_RETINOIC_ACID;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_REGULATION_OF_CELL_DEATH;GO_RESPONSE_TO_RETINOIC_ACID;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_RECEPTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Gastrointestinal tract, respiratory epithelia, renal tubules, lung, squamous epithelia, salivary ducts, fraction of cells in seminiferus ducts of testis and subset of cells in lymphoid tissues displayed moderate cytoplasmic positivity. Islet of Langerhans, subset of glial cells and neuropil exhibited strong immunoreactivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000062524-LTK/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	small intestine: 9.8	vesicles	.	PM2
H	15	42128402	rs771001261	C	A	222	PASS	JMJD7-PLA2G4B,JMJD7	.	exonic	NM_001114632,NM_001198588,NM_005090	.	missense SNV	JMJD7:NM_001114632:exon5:c.C586A:p.L196M,JMJD7-PLA2G4B:NM_001198588:exon5:c.C586A:p.L196M,JMJD7-PLA2G4B:NM_005090:exon5:c.C586A:p.L196M	ENST00000478178.1,ENSG00000168970.22,ENST00000491746.5,ENSG00000243789.10,ENST00000490848.5,ENST00000342159.6,ENST00000382448.8,ENST00000476036.2,ENST00000431823.1,ENST00000397299.8,ENST00000408047.5	.	15q15.1	.	.	.	.	.	rs771001261	.	.	.	.	.	.	0.00002193	273586	0.00031807	18864	0.00097163	0.00088496	.	-0.0857	JmjC domain	0.0,D	0.968,D	0.999,D	0.998709,N	0.020305,N	2.045,M	-0.6,T	1.4877	-0.076	0.163	3.820828,23.4	.	0.0264138646144	VDB=0.546254;SGB=-0.692831;RPB=0.901118;MQB=1.07009e-08;MQSB=0.999948;BQB=0.884621;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=62;DP4=17,9,16,8;MinDP=32;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:50:.:.	0/0:56:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:50:255,0,255:26,24	C	A	0	1	.	.	.	.	.	.	.	.	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_ETHER_LIPID_METABOLISM;KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM;KEGG_ALPHA_LINOLENIC_ACID_METABOLISM;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_GNRH_SIGNALING_PATHWAY	.	.	.	.	.	.	.	.	.	PM1, PM2
L	15	42980565	rs1014045555	T	C	222	PASS	STARD9	START domain-containing protein 9	exonic	NM_020759	.	synonymous SNV	STARD9:NM_020759:exon23:c.T6789C:p.S2263S	ENSG00000159433.11,ENST00000290607.11	.	15q15.2	.	.	.	.	.	rs1014045555	.	.	.	.	.	.	0.00005330	168866	0.00068658	11652	0.00038865	0.00088028	.	.	.	.	.	.	.	.	.	.	.	0.426	0.329	.	2.19	.	VDB=0.485021;SGB=-0.692976;RPB=0.994897;MQB=1.1313e-07;MQSB=0.305653;BQB=0.244921;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=67;DP4=16,13,19,7;MinDP=45;AN=18;AC=1	GT:DP:PL:AD	0/0:45:.:.	0/0:55:.:.	0/0:50:.:.	0/0:55:.:.	0/0:50:.:.	0/0:50:.:.	0/0:45:.:.	0/0:51:.:.	0/1:55:255,0,255:29,26	T	C	0	1	START domain-containing protein 9, 614642	.	.	.	16964419|10718198|22153075	GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGANELLE_ASSEMBLY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_SPINDLE_ASSEMBLY;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_CELL_CYCLE_PROCESS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_GOLGI_APPARATUS;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_LIPID_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic and nuclear positivity. Glandular cells in large intestine, prostate, epididymis, exocrine pancreas and purkinje cells displayed strong immunoreactivity. Most cells in lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000159433-STARD9/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.2	nucleus but not nucleoli; golgi apparatus	.	PM2
L	15	42982124	rs77096807	A	G	222	PASS	STARD9	START domain-containing protein 9	exonic	NM_020759	.	missense SNV	STARD9:NM_020759:exon23:c.A8348G:p.H2783R	ENSG00000159433.11,ENST00000562619.1,ENST00000290607.11	.	15q15.2	.	.	.	.	.	rs77096807	.	.	0.0182724	0.0179	0.0147764	0.0009	0.02132740	170016	0.01973233	11656	0.03128644	0.03873239	.	.	.	0.097,T	.	.	1,N	0.843062,N	1.75,L	-0.03,T	3.3139	0.399	0.972	2.286152,18.08	.	.	VDB=0.0921473;SGB=-0.693145;RPB=0.999094;MQB=2.24361e-11;MQSB=0.269917;BQB=0.689648;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=99;DP4=27,7,23,18;MinDP=38;AN=18;AC=1	GT:DP:PL:AD	0/0:38:.:.	0/0:56:.:.	0/0:60:.:.	0/0:59:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:75:255,0,255:34,41	A	G	0	1	START domain-containing protein 9, 614642	.	.	.	16964419|10718198|22153075	GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MICROTUBULE_BASED_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGANELLE_ASSEMBLY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_SPINDLE_ASSEMBLY;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;GO_CELL_CYCLE_PROCESS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_KINESIN_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_GOLGI_APPARATUS;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_MOTOR_ACTIVITY;GO_LIPID_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic and nuclear positivity. Glandular cells in large intestine, prostate, epididymis, exocrine pancreas and purkinje cells displayed strong immunoreactivity. Most cells in lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000159433-STARD9/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.2	nucleus but not nucleoli; golgi apparatus	.	BS1
H	15	43067358	rs776776204	G	A	222	PASS	TTBK2	Tau tubulin kinase 2	exonic	NM_173500	.	missense SNV	TTBK2:NM_173500:exon13:c.C1973T:p.A658V	ENST00000267890.10,ENSG00000128881.16,ENST00000622375.4	.	15q15.2	.	.	.	.	.	rs776776204	.	.	.	.	.	.	0.00003250	276936	.	.	.	0.00088028	.	0.0035	.	0.0,D	0.507,P	0.982,D	1,D	0.000002,D	2.42,M	0.18,T	20.0007	2.726	8.961	6.354399,29.4	5.77	0.063022511423	VDB=0.956217;SGB=-0.690438;RPB=0.860785;MQB=0.000141339;MQSB=0.871619;BQB=0.386775;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=115;DP4=37,9,34,7;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:32:255,0,255:15,17	0/0:50:.:.	0/1:55:255,0,255:31,24	G	A	0	2	Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant	.	.	.	23141541|18037885|16923168|10417284	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_CELL_PROJECTION_ASSEMBLY;GO_PEPTIDYL_SERINE_MODIFICATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_ASSEMBLY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_SMOOTHENED_SIGNALING_PATHWAY;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_CELL_SHAPE;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CILIARY_TRANSITION_ZONE;GO_EXTRACELLULAR_SPACE;GO_NONMOTILE_PRIMARY_CILIUM;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_PRIMARY_CILIUM;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_MICROTUBULE_ORGANIZING_CENTER;GO_CILIUM;GO_CILIARY_BASAL_BODY	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in several tissues including cilia in fallopian tube.	http://www.proteinatlas.org/ENSG00000128881-TTBK2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 8.0	.	.	BP1, PP3
L	15	43990913	rs199680351	C	T	222	PASS	CKMT1A	Creatine kinase, mitochondrial 1A	exonic	NM_001015001,NM_001321926,NM_001321927,NM_001321928,NM_001321929	.	synonymous SNV	CKMT1A:NM_001321926:exon8:c.C1086T:p.A362A,CKMT1A:NM_001321929:exon8:c.C609T:p.A203A,CKMT1A:NM_001015001:exon9:c.C1086T:p.A362A,CKMT1A:NM_001321927:exon9:c.C1179T:p.A393A,CKMT1A:NM_001321928:exon9:c.C1179T:p.A393A	ENST00000413453.6,ENST00000434505.5,ENSG00000223572.9	.	15q15.3	.	.	.	Score=0.980118;Name=chr15:43851135	.	rs199680351	.	.	0.00166113	0.001	0.000199681	.	0.00046934	276984	0.00042427	18856	0.00058298	.	.	0.0843	.	.	.	.	.	.	.	.	.	0.629	-0.076	1.291730,12.23	2.7	.	VDB=0.384669;SGB=-0.693139;RPB=0.973865;MQB=3.42245e-14;MQSB=0.957266;BQB=0.996446;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=127;DP4=44,15,29,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:101:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/1:95:255,0,255:59,36	C	T	0	1	Creatine kinase, mitochondrial 1A, 613415	.	.	.	17098888	GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CREATINE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PHOSPHORYLATION	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOTRANSFERASE_ACTIVITY_NITROGENOUS_GROUP_AS_ACCEPTOR;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ARGININE_AND_PROLINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	Granular cytoplasmic expression in several different tissue types, mainly in gastrointestinal tract and squamous epithelium.	http://www.proteinatlas.org/ENSG00000223572-CKMT1A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	colon: 43.8	.	.	PM2
L	15	44097658	rs575089383	C	T	198	PASS	MFAP1	Microfibrillar-associated protein-1	exonic	NM_005926	.	synonymous SNV	MFAP1:NM_005926:exon8:c.G1053A:p.E351E	ENST00000484386.1,ENST00000267812.3,ENSG00000140259.6	.	15q15.3	.	.	.	.	.	rs575089383	.	.	0	0.001	0.000199681	.	.	.	.	.	.	0.00088028	.	0.5689	.	.	.	.	.	.	.	.	.	-0.573	-0.751	1.784322,14.89	.	.	VDB=0.000971642;SGB=-0.690438;RPB=0.45466;MQB=7.69399e-05;MQSB=0.416288;BQB=0.764748;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=36;DP4=5,8,2,15;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:12:.:.	0/1:30:231,0,255:13,17	C	T	0	1	Microfibrillar-associated protein-1, 600215	.	.	.	1374398|15616564|9150721|7835894	.	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_FIBRIL	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Most of the normal tissues displayed moderate nuclear and occasional cytoplasmic positivity. Pancreatic islets, liver, prostate and glial cells were generally negative.	http://www.proteinatlas.org/ENSG00000140259-MFAP1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 25.8	nucleus but not nucleoli; plasma membrane; cytoplasm	.	BP7, PM2
H	15	45479822	.	A	C	173	PASS	SHF	SH2 domain-containing adaptor protein F	exonic	NM_001301168,NM_001301169,NM_001301170	.	missense SNV	SHF:NM_001301168:exon1:c.T328G:p.S110A,SHF:NM_001301169:exon1:c.T328G:p.S110A,SHF:NM_001301170:exon1:c.T328G:p.S110A	ENST00000290894.12,ENSG00000138606.19,ENSG00000259519.1,ENST00000560734.5,ENST00000561278.1,ENST00000560540.5,ENST00000560034.1,ENST00000560471.5	CpG: 80	15q21.1	.	.	Score=858;Name=V$OLF1_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00047170	0.00088968	.	.	.	0.093,T	.	.	1,D	.	.	.	4.7801	1.353	2.437	2.083012,16.74	2.38	0.401261888129	VDB=0.391871;SGB=-0.651104;RPB=0.952795;MQB=0.00180754;MQSB=0.503936;BQB=0.411413;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=21;DP4=2,8,4,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:18:206,0,199:10,8	A	C	0	1	SH2 domain-containing adaptor protein F, 617313	.	.	.	11095946|23360421	GO_CELL_DEATH	.	.	.	PID_PDGFRA_PATHWAY	.	.	Respiratory epithelia, stomach, small intestine, Leydig cells and epididymis displayed moderate cytoplasmic positivity. Exocrine pancreas was strongly positive. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000138606-SHF/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 18.9	nucleus	.	PM2, PP3
L	15	49329823	rs143106959	A	T	222	PASS	SECISBP2L	Selenocysteine insertion sequence-binding protein 2-like	exonic	NM_001193489,NM_014701	.	synonymous SNV	SECISBP2L:NM_001193489:exon2:c.T168A:p.T56T,SECISBP2L:NM_014701:exon2:c.T168A:p.T56T	ENSG00000138593.8,ENST00000380927.6,ENST00000557923.1,ENST00000559424.1,ENST00000261847.7,ENST00000559471.5	.	15q21.1	.	.	Score=902;Name=V$OCT1_03	.	.	rs143106959	.	.	0.00664452	0.0089	0.00259585	7.7e-05	0.00180784	277126	0.01213824	18866	0.00893898	0.00792254	.	0.2267	.	.	.	.	.	.	.	.	.	-0.533	1.019	.	.	.	VDB=0.414899;SGB=-0.688148;RPB=0.964629;MQB=0.000715265;MQSB=0.920991;BQB=0.950946;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=35;DP4=10,2,12,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:27:255,0,221:12,15	A	T	0	1	Selenocysteine insertion sequence-binding protein 2-like, 615756	.	.	.	22530054|9039502	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Normal tissues displayed moderate to strong cytoplasmic positivity with a granular pattern. Epididymis, decidual cells, skeletal muscle and squamous epithelia exhibited additional nuclear positivity.	http://www.proteinatlas.org/ENSG00000138593-SECISBP2L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 40.6	nucleus but not nucleoli	.	BP7
H	15	50519297	rs761262316	A	G	222	PASS	SLC27A2	Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1)	exonic	NM_001159629,NM_003645	.	missense SNV	SLC27A2:NM_001159629:exon6:c.A1220G:p.Y407C,SLC27A2:NM_003645:exon7:c.A1379G:p.Y460C	ENST00000544960.1,ENSG00000140284.10,ENST00000267842.9,ENST00000380902.8	.	15q21.2	.	.	.	.	.	rs761262316	.	.	.	.	.	.	0.00005774	277086	0.00084827	18862	0.00058298	.	.	-0.1330	AMP-dependent synthetase/ligase	0.0,D	0.997,D	1.0,D	1,D	0.000001,D	3.325,M	0.68,T	10.6174	0.999	3.993	5.915627,27.5	4.65	0.0657384884384	VDB=0.0116537;SGB=-0.692352;RPB=0.0875023;MQB=5.86243e-05;MQSB=0.860308;BQB=0.525541;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=47;DP4=5,11,12,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:37:255,0,255:16,21	A	G	0	1	Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1), 603247	.	.	.	12048192|12719378|9671728|7954810|8939997|9730624|17762044	GO_ION_TRANSPORT;GO_LIPID_MODIFICATION;GO_STEROID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_FATTY_ACID_BETA_OXIDATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_TRANSPORT;GO_BILE_ACID_BIOSYNTHETIC_PROCESS;GO_ANION_TRANSPORT;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_ORGANIC_ANION_TRANSPORT;GO_OXIDATION_REDUCTION_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_TRANSPORT;GO_LIPID_LOCALIZATION;GO_LIPID_OXIDATION;GO_FATTY_ACID_TRANSPORT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_BILE_ACID_METABOLIC_PROCESS	GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_MICROBODY_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ENDOPLASMIC_RETICULUM_MEMBRANE;GO_MICROBODY;GO_INTRINSIC_COMPONENT_OF_PEROXISOMAL_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_MITOCHONDRION;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_MICROBODY_PART;GO_ENDOPLASMIC_RETICULUM	GO_LIPID_TRANSPORTER_ACTIVITY;GO_LIGASE_ACTIVITY_FORMING_CARBON_SULFUR_BONDS;GO_FATTY_ACID_TRANSPORTER_ACTIVITY;GO_LONG_CHAIN_FATTY_ACID_COA_LIGASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_FATTY_ACID_LIGASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_ACID_THIOL_LIGASE_ACTIVITY;GO_LIGASE_ACTIVITY	KEGG_PPAR_SIGNALING_PATHWAY;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	Strong cytoplasmic positivity was observed in the intestinal tract, respiratory epithelia, hepatocytes, renal tubules and trophoblastic cells. Pancreas, urothelium, endocrine glands, neuronal and lymphoid tissues displayed weak to moderate cytoplasmic staining. The remaining normal tissues were mainly negative.	http://www.proteinatlas.org/ENSG00000140284-SLC27A2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	small intestine: 16.5	.	.	PM1, PM2, PP3
H	15	50899527	.	TAA	T	203	PASS	TRPM7	Transient receptor potential cation channel, subfamily M, member 7	splicing	NM_001301212,NM_017672	.	.	.	ENST00000313478.11,ENST00000560955.5,ENST00000560638.1,ENSG00000092439.13	.	15q21.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000479	208768	0.00006747	14822	0.00058366	0.00088028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.773282;SGB=-0.662043;MQSB=0.058652;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=21;DP4=4,3,5,4;IDV=10;IMF=0.47619;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:16:236,0,185:7,9	TAA	T	0	1	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant	.	.	.	14697204|21932052|19405049|16051700|17158800|11385574|11161216|11941371|12887921|27020697|15811932|19118385	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_NECROPTOTIC_PROCESS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_METAL_ION_TRANSPORT;GO_NECROTIC_CELL_DEATH;GO_CELL_DEATH;GO_HOMEOSTATIC_PROCESS;GO_CELL_MATRIX_ADHESION;GO_CATION_TRANSPORT;GO_CELL_SUBSTRATE_ADHESION;GO_PROTEIN_OLIGOMERIZATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CALCIUM_ION_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_CELLULAR_HOMEOSTASIS;GO_PROTEIN_TETRAMERIZATION;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_BIOLOGICAL_ADHESION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_CELL_PROJECTION;GO_RUFFLE;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIN_BINDING;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_KINASE_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_MYOSIN_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Most of the normal tissues displayed moderate to strong cytoplasmic positivity in a granular pattern. Alveolar cells, cells in glomeruli, decidual cells, glial cells and smooth muscle cells were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000092439-TRPM7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 15.9	nucleus but not nucleoli	.	PM2
L	15	51017527	rs199570965	AAAAACAAAAC	A	183	PASS	SPPL2A	Signal peptide peptidase-like 2A	splicing	NM_032802	.	.	.	ENST00000558934.1,ENST00000261854.9,ENSG00000138600.9,ENST00000558146.1,ENST00000559293.1	.	15q21.2	.	.	.	.	Score=317;Name="1536081:(CAAAA)n(Simple_repeat)"	rs199570965	.	.	.	.	.	0.0026	0.00108795	239900	0.01047737	16130	0.01288559	0.00970018	.	.	.	.	.	.	.	.	.	.	.	.	.	2.329295,13.75	.	.	INDEL;VDB=0.13615;SGB=-0.590765;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=66;DP4=0,9,0,36;IDV=8;IMF=0.727273;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:8:145,.,.:3,.	0/0:8:123,.,.:4,.	0/0:5:99,.,.:2,.	0/0:5:.:.	0/0:8:209,.,.:0,.	0/0:5:.:.	0/0:8:200,.,.:0,.	2/1:8:245,151,142,112,.,97:0,3,5	AAAAACAAAAC	AAAAAC,A	0	1	Signal peptide peptidase-like 2A, 608238	.	.	.	12139484	GO_PROTEIN_MATURATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_PEPTIDE_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MEMBRANE_PROTEIN_INTRACELLULAR_DOMAIN_PROTEOLYSIS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS;GO_MEMBRANE_PROTEIN_PROTEOLYSIS;GO_SIGNAL_PEPTIDE_PROCESSING;GO_PROTEOLYSIS	GO_VESICLE_MEMBRANE;GO_LATE_ENDOSOME_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_VACUOLE;GO_INTRINSIC_COMPONENT_OF_ENDOPLASMIC_RETICULUM_MEMBRANE;GO_LUMENAL_SIDE_OF_MEMBRANE;GO_GOLGI_ASSOCIATED_VESICLE_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_GOLGI_ASSOCIATED_VESICLE;GO_GOLGI_MEMBRANE;GO_LATE_ENDOSOME;GO_VACUOLAR_PART;GO_SIDE_OF_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOSOMAL_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_PEPTIDASE_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_ASPARTIC_TYPE_PEPTIDASE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000138600-SPPL2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	rectum: 80.9	vesicles	.	.
H	15	56946603	rs752466811	C	A	53	PASS	ZNF280D	.	exonic	NM_001002843,NM_001288588,NM_017661	.	missense SNV	ZNF280D:NM_001002843:exon17:c.G2117T:p.C706F,ZNF280D:NM_001288588:exon18:c.G2156T:p.C719F,ZNF280D:NM_017661:exon18:c.G2156T:p.C719F	ENSG00000137871.19,ENST00000560002.5,ENST00000559000.5,ENST00000559237.5,ENST00000267807.11,ENST00000558067.5	.	15q21.3	.	.	.	.	.	rs752466811	.	.	.	.	.	.	0.00002946	237626	0.00042306	16546	.	.	.	0.1745	Zinc finger, C2H2-like	0.046,D	0.999,D	1.0,D	0.999642,D	0.346065,N	2.83,M	3.62,T	18.6646	2.660	5.490	5.637180,26.6	5.62	0.0357299419464	VDB=0.803107;SGB=-0.556411;RPB=0.36729;MQB=0.0131237;MQSB=0.995381;BQB=0.793923;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=20;DP4=7,6,2,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:17:87,0,255:13,4	C	A	0	1	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Nuclear and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000137871-ZNF280D/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 20.8	nucleus but not nucleoli; cytoplasm; golgi apparatus; centrosome	.	PM1, PM2, PP3
H	15	60748890	rs759519596	A	G	42.4041	PASS	ICE2	.	exonic	NM_001018089,NM_001276385,NM_024611	.	missense SNV	ICE2:NM_001018089:exon6:c.T221C:p.M74T,ICE2:NM_001276385:exon6:c.T632C:p.M211T,ICE2:NM_024611:exon6:c.T632C:p.M211T	ENST00000560895.5,ENST00000561114.5,ENST00000561446.5,ENSG00000128915.11,ENST00000261520.8,ENST00000558512.5,ENST00000558181.5	.	15q22.2	.	.	.	.	.	rs759519596	.	.	.	.	.	.	0.00001887	264972	0.00028084	17804	0.00129534	.	.	-0.0154	.	0.111,T	0.003,B	0.003,B	0.960891,N	0.000009,N	1.67,L	.	8.9853	1.021	3.972	1.942669,15.85	4.32	0.0035854712416	VDB=0.102722;SGB=-0.511536;RPB=0.28717;MQB=0.28717;BQB=0.861511;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=6;DP4=3,0,3,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:5:.:.	0/1:6:75,0,77:3,3	A	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General cytoplasmic expression most abundant in the intestine and gall bladder.	http://www.proteinatlas.org/ENSG00000128915-ICE2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 7.8	nucleus; cytoplasm	.	PM2
H	15	62360396	rs370645340	C	T	25.9469	PASS	C2CD4A	C2 calcium-dependent domain containing 4A	exonic	NM_207322	.	missense SNV	C2CD4A:NM_207322:exon2:c.C584T:p.A195V	ENSG00000198535.5,ENST00000355522.5	CpG: 127	15q22.2	.	.	.	.	.	rs370645340	.	.	0.00332226	0.006	0.00139776	.	0.00117985	66110	0.03118908	2052	0.02889151	0.02640845	.	.	.	0.195,T	0.022,B	0.034,B	1,N	0.008148,N	1.245,L	1.46,T	1.7646	0.089	0.550	1.332216,12.44	.	.	VDB=0.82;SGB=-0.453602;RPB=1;MQB=0;MQSB=1;BQB=0.75;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=9;DP4=3,1,2,0;MinDP=5;AN=16;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	0/1:6:59,0,125:4,2	C	T	0	1	C2 calcium-dependent domain containing 4A, 610343	.	.	.	15527968	GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_SINGLE_ORGANISM_MEMBRANE_FUSION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_VESICLE_ORGANIZATION;GO_MEMBRANE_FUSION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_NEUROTRANSMITTER_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_REGULATION_OF_SECRETION;GO_ORGANELLE_MEMBRANE_FUSION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS_OF_NEUROTRANSMITTER;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_SYNAPTIC_SIGNALING;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_ORGANELLE_LOCALIZATION;GO_REGULATED_EXOCYTOSIS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_ORGANELLE_FUSION;GO_CYTOSOLIC_TRANSPORT	.	GO_SYNTAXIN_BINDING;GO_CALCIUM_ION_BINDING;GO_CLATHRIN_BINDING;GO_SNARE_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_CALCIUM_DEPENDENT_PHOSPHOLIPID_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000198535-C2CD4A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	endometrium: 1.0	.	.	.
L	15	65804787	rs149888979	A	G	207	PASS	DPP8	Dipeptidyl peptidase 8	exonic	NM_001320875,NM_001320876,NM_017743,NM_130434,NM_197960,NM_197961	.	synonymous SNV	DPP8:NM_001320876:exon2:c.T105C:p.F35F,DPP8:NM_017743:exon2:c.T105C:p.F35F,DPP8:NM_130434:exon2:c.T105C:p.F35F,DPP8:NM_001320875:exon3:c.T153C:p.F51F,DPP8:NM_197960:exon3:c.T153C:p.F51F,DPP8:NM_197961:exon3:c.T153C:p.F51F	ENST00000560436.1,ENST00000558529.1,ENST00000395652.7,ENST00000559233.5,ENST00000560194.1,ENST00000321147.10,ENSG00000074603.18,ENST00000358939.8,ENST00000560665.1,ENST00000559526.5,ENST00000341861.9,ENST00000300141.10	.	15q22.31	.	.	Score=885;Name=V$TATA_01	.	.	rs149888979	.	.	0.00498339	0.003	0.000599042	.	0.00011546	277162	0.00164299	18868	0.00097163	.	.	0.6501	.	.	.	.	.	.	.	.	.	0.949	2.984	.	3.23	.	VDB=0.543287;SGB=-0.689466;RPB=0.778569;MQB=1.99473e-06;MQSB=0.818731;BQB=0.996361;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=58;DP4=19,9,13,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:31:.:.	0/1:44:240,0,255:28,16	A	G	0	1	Dipeptidyl peptidase 8, 606819	.	.	.	11012666|12459266|12662155	GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_RESPONSE;GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_AMINOPEPTIDASE_ACTIVITY;GO_DIPEPTIDYL_PEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY	.	.	.	.	General cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000074603-DPP8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 25.4	cytoplasm; nucleus but not nucleoli	.	PM2
H	15	66857127	rs749786694	C	T	222	PASS	LCTL	Lactase-like protein	exonic	NM_207338	.	missense SNV	LCTL:NM_207338:exon2:c.G169A:p.D57N	ENST00000562179.1,ENSG00000188501.11,ENST00000563438.1,ENST00000565875.5,ENST00000537670.5,ENST00000341509.9	.	15q22.31	.	.	.	.	.	rs749786694	.	.	.	.	.	.	0.00003614	276706	0.00053005	18866	0.00078709	0.00088496	.	0.1790	Glycoside hydrolase superfamily;Glycoside hydrolase, catalytic domain	1.0,T	0.291,B	0.467,P	1,D	0.000090,D	-0.69,N	1.69,T	13.0096	1.359	4.658	2.370798,18.63	4.64	0.0156210609862	VDB=0.0140311;SGB=-0.693147;RPB=0.914364;MQB=1.59405e-14;MQSB=0.583435;BQB=0.767146;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=129;DP4=24,17,26,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:94:255,0,255:41,53	C	T	0	1	Lactase-like protein, 617060	.	.	.	12084582	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_BRUSH_BORDER;GO_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_GLUCOSIDASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188501-LCTL/tissue	FPKM<0.5 in all tissues <Not detected>	cerebral cortex: 0.4	.	.	PM1, PM2
H	15	70960666	.	A	G	222	PASS	UACA	Uveal autoantigen with coiled-coil domains and ankyrin repeats	exonic	NM_001008224,NM_018003	.	missense SNV	UACA:NM_001008224:exon16:c.T2318C:p.L773P,UACA:NM_018003:exon16:c.T2357C:p.L786P	ENST00000322954.10,ENSG00000137831.14,ENST00000379983.6,ENST00000539319.5,ENST00000560441.5	.	15q23	.	.	.	.	.	.	.	.	.	.	.	.	0.00000412	242522	0.00005861	17062	.	.	.	-0.0021	.	0.008,D	0.843,P	0.971,D	0.993574,D	0.576248,N	2.43,M	1.29,T	7.0532	-0.166	0.666	.	.	0.022441047268	VDB=0.49207;SGB=-0.693143;RPB=0.888091;MQB=1.10646e-09;MQSB=0.406271;BQB=0.504048;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=85;DP4=21,8,19,19;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:47:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:32:.:.	0/0:50:.:.	0/1:67:255,0,255:29,38	A	G	0	1	Uveal autoantigen with coiled-coil domains and ankyrin repeats, 612516	.	.	.	14961764|10997877|12761289|15271982|11162650	GO_CELL_DEATH;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_NIK_NF_KAPPAB_SIGNALING	GO_CYTOSKELETON;GO_MITOCHONDRION	.	.	.	.	.	The small intestine was strongly stained while moderate cytoplasmic positivity was observed in ciliated cells, gastric glands, gall bladder, endocrine cells and Leydig cells. Seminiferus duct cells and a subset of neuronal cells showed moderate nuclear positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000137831-UACA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 38.3	nucleus; cytoplasm; mitochondria	.	PM2
L	15	72030194	rs77964295	C	T	222	PASS	THSD4	Thrombospondin type-1 domain-containing 4	exonic	NM_001286429,NM_024817	.	missense SNV	THSD4:NM_001286429:exon5:c.C674T:p.S225L,THSD4:NM_024817:exon10:c.C1754T:p.S585L	ENST00000567838.1,ENSG00000187720.14,ENST00000355327.7,ENST00000357769.4,ENST00000261862.7,ENST00000567745.5	.	15q23	.	.	.	.	.	rs77964295	.	.	0.0415282	0.0437	0.0165735	0.0006	0.01434437	277182	0.04102184	18868	0.04197435	0.04313380	.	-0.4636	.	0.087,T	0.025,B	0.491,P	1,N	.	0.805,L	0.06,T	6.4623	1.234	1.948	1.759928,14.75	3.35	.	VDB=0.508148;SGB=-0.693147;RPB=0.0376095;MQB=6.54279e-30;MQSB=0.786049;BQB=0.531044;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=278;DP4=82,26,76,20;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:204:255,0,255:108,96	C	T	0	1	Thrombospondin type-1 domain-containing 4, 614476	.	.	.	21880733|19940141	GO_EXTRACELLULAR_MATRIX_ASSEMBLY;GO_PROTEOLYSIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_FIBRIL	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_METALLOPEPTIDASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Most normal tissues displayed weak to moderate nuclear positivity. Strong nucleolar staining was observed in a subset of cells in CNS. Endothelial cells showed weak to moderate cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000187720-THSD4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 28.8	nucleus; nucleoli	.	BS1
L-	15	72190119	rs531275220	C	A	222	PASS	MYO9A	Myosin IXa	exonic	NM_006901	.	synonymous SNV	MYO9A:NM_006901:exon25:c.G4725T:p.G1575G	ENST00000561618.5,ENSG00000066933.15,ENST00000563542.5,ENST00000564571.5,ENST00000356056.9,ENST00000444904.5,ENST00000566885.5,ENST00000568781.1	.	15q23	.	.	.	.	.	rs531275220	.	.	0.00332226	0.002	0.000399361	.	0.00013007	276772	0.00191042	18844	0.00077730	.	.	0.0036	.	.	.	.	.	.	.	.	.	-0.656	-1.011	.	.	.	VDB=0.0332273;SGB=-0.692562;RPB=0.285029;MQB=1.6196e-06;MQSB=0.998677;BQB=0.279758;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=133;DP4=39,16,28,17;MinDP=46;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:44:22,22	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:46:.	0/0:.:53:.	0/0:.:50:.	0/0:.:51:.	0/1:255,0,255:56:33,23	C	A	0	2	Myosin IXa, 604875	.	.	.	8791402|10409426|8689571	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_SYSTEM_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_ACTIN_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000066933-MYO9A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 24.0	plasma membrane	.	BP7, PM2
H	15	75015215	rs554072118	T	G	222	PASS	CYP1A1	Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1	exonic	NM_000499,NM_001319216,NM_001319217	.	missense SNV	CYP1A1:NM_000499:exon2:c.A224C:p.Q75P,CYP1A1:NM_001319216:exon2:c.A224C:p.Q75P,CYP1A1:NM_001319217:exon2:c.A224C:p.Q75P	ENST00000395049.8,ENST00000567032.5,ENST00000395048.6,ENST00000569630.5,ENST00000379727.7,ENSG00000140465.13,ENST00000566503.1,ENST00000612821.4,ENST00000564596.5,ENST00000617691.4,ENST00000562201.5	.	15q24.1	.	.	.	.	.	rs554072118	.	.	0.00166113	0.001	0.000199681	.	0.00014075	277092	0.00180218	18866	0.00349786	0.00264550	.	0.5679	.	0.001,D	0.983,D	0.989,D	1,D	0.000002,D	3.7,H	-0.35,T	15.1201	1.968	6.148	4.252290,23.9	5.23	0.104306885874	VDB=0.434166;SGB=-0.693147;RPB=0.994007;MQB=9.66659e-19;MQSB=0.983678;BQB=0.966346;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=153;DP4=41,30,34,20;MinDP=94;AN=18;AC=1	GT:DP:PL:AD	0/0:94:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:96:.:.	0/0:100:.:.	0/1:125:255,0,255:71,54	T	G	0	1	Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1, 108330	.	.	.	1070014|11207026|6306768|4040754|4000952|3453896|2989797|3838385|3714481|3755823|15643613|1754392|8548778|1691986|3019683|6291746|9067549|1655248|3304150|3865622|10235258|9353182|1707592|3000715|10768437|6328503|11779261|7333581|8877059	GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CELLULAR_CATABOLIC_PROCESS;GO_RESPONSE_TO_IMMOBILIZATION_STRESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_COFACTOR_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_FOOD;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DEMETHYLATION;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_AGING;GO_EMBRYO_DEVELOPMENT;GO_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AMINE_METABOLIC_PROCESS;GO_RESPONSE_TO_INCREASED_OXYGEN_LEVELS;GO_RESPONSE_TO_BACTERIUM;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_INSECTICIDE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_TERPENOID_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_VITAMIN_D_METABOLIC_PROCESS;GO_TOXIN_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_FAT_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_TETRAPYRROLE_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_PARTURITION;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_OXIDATION_REDUCTION_PROCESS;GO_RETINOIC_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_FATTY_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_VITAMIN_A;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_DRUG_METABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_DRUG;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_RESPONSE_TO_ARSENIC_CONTAINING_SUBSTANCE;GO_RESPONSE_TO_VITAMIN;GO_EYE_DEVELOPMENT;GO_HYDROGEN_PEROXIDE_METABOLIC_PROCESS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_ISOPRENOID_BIOSYNTHETIC_PROCESS;GO_FLAVONOID_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_RESPONSE_TO_ANTIBIOTIC;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_GLAND_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_SECONDARY_METABOLIC_PROCESS;GO_REPRODUCTION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_NUTRIENT;GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_VITAMIN_METABOLIC_PROCESS;GO_EPOXYGENASE_P450_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_RESPONSE_TO_VIRUS;GO_ISOPRENOID_METABOLIC_PROCESS;GO_HORMONE_METABOLIC_PROCESS;GO_TISSUE_DEVELOPMENT;GO_RESPONSE_TO_IRON_ION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN	GO_ENDOPLASMIC_RETICULUM_PART;GO_MITOCHONDRION;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_DEMETHYLASE_ACTIVITY;GO_MONOOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_OXYGEN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_ENZYME_BINDING;GO_TETRAPYRROLE_BINDING;GO_IRON_ION_BINDING;GO_STEROID_HYDROXYLASE_ACTIVITY;GO_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;GO_OXIDOREDUCTASE_ACTIVITY;GO_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	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_TRYPTOPHAN_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000140465-CYP1A1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	gallbladder: 0.7	.	.	PM2, PP3
H	15	75188640	rs150525282	A	G	222	PASS	MPI	Mannosephosphate isomerase (phosphomannose isomerase 1)	exonic	NM_001289155,NM_001289156,NM_001289157,NM_001330372,NM_002435	.	missense SNV	MPI:NM_001289156:exon5:c.A668G:p.N223S,MPI:NM_001289157:exon5:c.A635G:p.N212S,MPI:NM_001289155:exon6:c.A818G:p.N273S,MPI:NM_001330372:exon6:c.A758G:p.N253S,MPI:NM_002435:exon6:c.A818G:p.N273S	ENST00000563422.5,ENST00000567177.1,ENST00000566377.5,ENST00000562800.5,ENST00000569931.5,ENSG00000178802.17,ENST00000564003.5,ENST00000563786.5,ENST00000535694.5,ENST00000562606.5,ENST00000323744.10,ENST00000352410.8,ENST00000566556.1	.	15q24.1	.	.	Score=793;Name=V$XBP1_01	.	.	rs150525282	.	.	.	.	.	7.7e-05	0.00007937	277180	0.00095390	18870	0.00077730	0.00088183	.	-0.0589	RmlC-like cupin domain;RmlC-like jelly roll fold	0.016,D	0.868,P	0.984,D	1,D	0.000000,N	2.915,M	-4.07,D	10.3254	0.826	5.127	2.519790,19.59	4.07	0.201943499781	VDB=0.120063;SGB=-0.693147;RPB=0.517242;MQB=8.77782e-17;MQSB=0.909663;BQB=0.498976;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=159;DP4=52,21,33,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:103:.:.	0/1:123:255,0,255:73,50	A	G	0	1	Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive	.	.	.	1222586|341373|2575592|9585601|4120258|9525984|3080572|8307007|1088818|10980531|1137344|12414827	GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOTIDE_SUGAR_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_HEXOSE_METABOLIC_PROCESS;GO_NUCLEOTIDE_SUGAR_BIOSYNTHETIC_PROCESS	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;GO_ISOMERASE_ACTIVITY;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_INTERCONVERTING_ALDOSES_AND_KETOSES	KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	BIOCARTA_FEEDER_PATHWAY	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_SYNTHESIS_OF_SUBSTRATES_IN_N_GLYCAN_BIOSYTHESIS;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000178802-MPI/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 34.3	nucleus	.	PM2, PP3
H	15	75520746	rs146447806	C	T	222	PASS	LOC105376731	.	splicing	NM_001321990	NM_001321990:exon4:c.382+8G>A	.	.	ENSG00000260660.2,ENST00000563803.1,ENST00000636412.1,ENST00000637356.1	.	15q24.2	.	.	.	.	.	rs146447806	.	.	0.00664452	0.0099	0.00199681	.	0.00067908	30924	0.00679852	1618	0.01438010	0.01760563	.	.	.	.	.	.	.	.	.	.	.	-1.639	-0.782	1.041389,10.89	.	.	VDB=0.47783;SGB=-0.693144;RPB=0.922208;MQB=7.50541e-12;MQSB=0.37537;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=97;DP4=33,5,28,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:54:.:.	0/0:50:.:.	0/0:50:.:.	0/1:77:255,0,255:38,39	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
H	15	76995253	.	C	A	186	PASS	SCAPER	S-phase cyclin A-associated protein in the endoplasmic reticulum	exonic	NM_001145923,NM_020843	.	missense SNV	SCAPER:NM_020843:exon18:c.G2338T:p.D780Y,SCAPER:NM_001145923:exon19:c.G1600T:p.D534Y	ENST00000563290.5,ENST00000538941.6,ENSG00000140386.12,ENST00000324767.11,ENST00000303521.10	.	15q24.3	.	.	Score=904;Name=V$OCT1_03	.	.	.	.	.	.	.	.	.	0.00000411	243250	0.00005891	16976	0.00019433	.	.	-0.3867	.	.	0.998,D	1.0,D	1,D	0.000000,D	0.975,L	1.21,T	20.0589	2.732	7.487	6.868538,33	5.8	0.0290336041603	VDB=0.715037;SGB=-0.676189;RPB=0.89594;MQB=0.000732718;MQSB=0.98872;BQB=0.67403;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=37;DP4=10,6,7,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:27:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:27:219,0,255:16,11	C	A	0	1	S-phase cyclin A-associated protein in the endoplasmic reticulum, 611611	.	.	.	10819331|17698606	.	GO_ENDOPLASMIC_RETICULUM	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000140386-SCAPER/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 20.5	nucleus; cytoplasm	.	PM2, PP3
L	15	76995254	.	A	G	186	PASS	SCAPER	S-phase cyclin A-associated protein in the endoplasmic reticulum	exonic	NM_001145923,NM_020843	.	synonymous SNV	SCAPER:NM_020843:exon18:c.T2337C:p.T779T,SCAPER:NM_001145923:exon19:c.T1599C:p.T533T	ENST00000563290.5,ENST00000538941.6,ENSG00000140386.12,ENST00000324767.11,ENST00000303521.10	.	15q24.3	.	.	Score=904;Name=V$OCT1_03	.	.	.	.	.	.	.	.	.	0.00000411	243064	0.00005884	16994	0.00019433	.	.	0.2689	.	.	.	.	.	.	.	.	.	-1.136	-0.516	.	.	.	VDB=0.702665;SGB=-0.676189;RPB=0.89594;MQB=0.000732718;MQSB=0.98872;BQB=0.94986;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=37;DP4=10,6,7,4;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:27:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:27:219,0,255:16,11	A	G	0	1	S-phase cyclin A-associated protein in the endoplasmic reticulum, 611611	.	.	.	10819331|17698606	.	GO_ENDOPLASMIC_RETICULUM	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000140386-SCAPER/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 20.5	nucleus; cytoplasm	.	BP7, PM2
H	15	81592420	rs201457933	G	C	222	PASS	IL16	Interleukin 16	exonic	NM_001172128,NM_004513,NM_172217	.	missense SNV	IL16:NM_004513:exon2:c.G650C:p.G217A,IL16:NM_172217:exon13:c.G2753C:p.G918A,IL16:NM_001172128:exon14:c.G2753C:p.G918A	ENST00000394660.6,ENST00000558857.5,ENST00000560115.5,ENST00000302987.8,ENSG00000172349.17,ENST00000394652.6,ENST00000360547.9,ENST00000558332.3	.	15q25.1	.	.	Score=775;Name=V$HEN1_01	.	.	rs201457933	.	.	0.0166113	0.0159	0.00319489	.	0.00145752	241506	0.01915345	17908	0.01029926	0.01056338	.	0.0116	PDZ domain	0.095,T	0.167,B	0.499,P	1,N	0.635993,N	2.075,M	2.93,T	6.2019	0.902	2.247	.	2.26	.	VDB=0.0908661;SGB=-0.693147;RPB=0.912527;MQB=3.69901e-16;MQSB=0.999921;BQB=0.982865;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=157;DP4=31,43,24,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:124:255,0,255:74,50	G	C	0	1	Interleukin 16, 603035	.	.	.	9144227|11971026|8609984|10369931|7042841|7910967|8314568|8533086|9637508|14607889	GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_INDUCTION_OF_POSITIVE_CHEMOTAXIS;GO_REGULATION_OF_POSITIVE_CHEMOTAXIS;GO_LEUKOCYTE_CHEMOTAXIS;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_CHEMOTAXIS;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS	GO_EXTRACELLULAR_SPACE	GO_RECEPTOR_BINDING;GO_CYTOKINE_ACTIVITY	.	.	BIOCARTA_CYTOKINE_PATHWAY	.	Selective cytoplasmic expression in lymphoid cells.	http://www.proteinatlas.org/ENSG00000172349-IL16/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 109.5	nucleus; plasma membrane; cytoplasm	.	PM1
L	15	82337933	rs754944500	G	A	222	PASS	MEX3B	Mex-3, C. elegans, homolog of, B	exonic	NM_032246	.	synonymous SNV	MEX3B:NM_032246:exon1:c.C114T:p.L38L	ENST00000329713.4,ENST00000558133.1,ENSG00000183496.5	CpG: 370	15q25.2	.	.	Score=785;Name=V$AHR_01	.	.	rs754944500	.	.	.	.	.	.	0.00004129	266426	0.00005384	18574	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.459	0.861	.	.	.	VDB=0.00289235;SGB=-0.693147;RPB=0.504321;MQB=3.64862e-21;MQSB=0.824407;BQB=0.830733;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=213;DP4=40,55,32,31;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:105:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:158:255,0,255:95,63	G	A	0	1	Mex-3, C. elegans, homolog of, B, 611008	.	.	.	17267406	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION	GO_CYTOPLASMIC_MRNA_PROCESSING_BODY;GO_RIBONUCLEOPROTEIN_GRANULE;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_CALCIUM_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Moderate cytoplasmic positivity was observed in smooth and skeletal muscle cells along with subsets of neuronal cells, cells in seminiferus ducts of testis and hematopoietic cells. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000183496-MEX3B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	endometrium: 5.4	.	.	BP7, PM2
H	15	83226638	rs781571987	A	G	222	PASS	CPEB1	Cytoplasmic polyadenylation element-binding protein 1	exonic	NM_001079533,NM_001079534,NM_001079535,NM_001288819,NM_030594	.	missense SNV	CPEB1:NM_001079535:exon2:c.T253C:p.F85L,CPEB1:NM_001079533:exon3:c.T253C:p.F85L,CPEB1:NM_001079534:exon3:c.T253C:p.F85L,CPEB1:NM_001288819:exon4:c.T253C:p.F85L,CPEB1:NM_030594:exon4:c.T478C:p.F160L	ENST00000621893.1,ENST00000620182.4,ENSG00000278013.1,ENST00000568994.1,ENST00000618449.4,ENST00000614977.4,ENST00000611031.4,ENST00000615198.4,ENST00000570205.1,ENST00000616959.4,ENST00000617462.4,ENSG00000214575.9,ENST00000617958.4,ENST00000617522.4,ENST00000611163.4,ENST00000614918.4	.	15q25.2	.	.	.	.	.	rs781571987	.	.	.	.	.	.	0.00004470	246096	0.00063776	17248	.	0.00088028	.	0.9817	.	0.055,T	0.009,B	0.004,B	1,D	0.001394,U	0.55,N	.	11.2781	2.243	6.867	2.870933,21.7	5.84	0.00599191249663	VDB=0.271536;SGB=-0.693147;RPB=0.884491;MQB=3.71024e-15;MQSB=0.917831;BQB=0.984243;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=126;DP4=31,22,26,19;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:100:.:.	0/0:100:.:.	0/0:91:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:98:255,0,255:53,45	A	G	0	1	Cytoplasmic polyadenylation element-binding protein 1, 607342	.	.	.	23434754|21478871|19141477|11545727|17015432|11433366|18267074|11702780|11223249	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_MRNA_PROCESSING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RNA_PROCESSING;GO_PEPTIDE_METABOLIC_PROCESS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_NITRIC_OXIDE_SYNTHASE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_BACTERIUM;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_NITRIC_OXIDE_SYNTHASE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEUROGENESIS;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_AMINO_ACID;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STIMULUS;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MRNA_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_CYTOPLASMIC_TRANSLATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_RNA_LOCALIZATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_MICROTUBULE_CYTOSKELETON;GO_EXCITATORY_SYNAPSE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_POSTSYNAPSE;GO_CENTROSOME;GO_CYTOPLASMIC_MRNA_PROCESSING_BODY;GO_CELL_JUNCTION;GO_RIBONUCLEOPROTEIN_GRANULE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	GO_MRNA_BINDING;GO_RIBONUCLEOPROTEIN_COMPLEX_BINDING;GO_TRANSLATION_FACTOR_ACTIVITY_RNA_BINDING;GO_AU_RICH_ELEMENT_BINDING;GO_TRANSLATION_REGULATOR_ACTIVITY;GO_TRANSLATION_REPRESSOR_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_TRANSLATION_REGULATOR_ACTIVITY_NUCLEIC_ACID_BINDING;GO_RIBOSOME_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING;GO_MRNA_3_UTR_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION	PID_AURORA_A_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000214575-CPEB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 14.1	nucleus but not nucleoli; cytoplasm	.	PM2
L	15	85345330	rs781685879	C	T	222	PASS	ZNF592	Zinc finger protein 592	exonic	NM_014630	.	synonymous SNV	ZNF592:NM_014630:exon11:c.C3510T:p.R1170R	ENSG00000166716.9,ENST00000559607.1,ENST00000560079.6,ENST00000299927.4	.	15q25.3	.	.	Score=952;Name=V$MYOD_01	Score=0.979649;Name=chr18:3580224	.	rs781685879	.	.	.	.	.	.	0.00004395	273030	0.00063993	18752	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	-0.192	1.528465,13.46	.	.	VDB=0.553158;SGB=-0.693145;RPB=0.789128;MQB=0.49899;MQSB=0.0298055;BQB=0.997398;MQ0F=0;ICB=1;HOB=0.5;MQ=39;DP=99;DP4=29,10,29,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:58:.:.	0/0:76:.:.	0/0:60:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/1:80:255,0,255:39,41	C	T	0	1	Zinc finger protein 592, 613624	.	.	.	12030328|9039502|20531441|26123727	.	.	.	.	.	.	.	General nuclear and cytoplasmic expression at variable levels.	http://www.proteinatlas.org/ENSG00000166716-ZNF592/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 9.8	.	.	BP7, PM2
H	15	86087092	rs114777682	C	T	222	PASS	AKAP13	A-kinase anchor protein 13	exonic	NM_006738,NM_007200	.	missense SNV	AKAP13:NM_006738:exon5:c.C568T:p.R190C,AKAP13:NM_007200:exon5:c.C568T:p.R190C	ENST00000361243.6,ENSG00000170776.21,ENST00000559362.5,ENST00000394518.6	.	15q25.3	.	.	Score=865;Name=V$E47_01	.	.	rs114777682	.	.	0.00332226	0.005	0.00179712	0.0002	0.00120159	277132	0.01325557	18860	0.02603964	0.01496479	.	0.0595	Ankyrin repeat-containing domain	0.002,D	1.0,D	1.0,D	0.999924,D	.	2.215,M	0.02,T	10.6689	2.579	4.326	7.771266,35	4.5	.	VDB=0.0558188;SGB=-0.693147;RPB=0.683031;MQB=3.44204e-13;MQSB=0.793339;BQB=0.994867;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=133;DP4=32,12,40,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:94:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/1:97:255,0,255:44,53	C	T	0	1	A-kinase anchor protein 13, 604686	.	.	.	1618839|1860836|20139090|9627117|12663445|9891067|8290273	GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NUCLEAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_BONE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_ADRENERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_MUSCLE_HYPERTROPHY;GO_HEART_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CARDIOCYTE_DIFFERENTIATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_HEART_PROCESS;GO_NUCLEAR_EXPORT;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_MUSCLE_ADAPTATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_TISSUE_DEVELOPMENT	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_CELL_CORTEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_COMPLEX_SCAFFOLD;GO_PROTEIN_KINASE_A_BINDING;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_RHO_GTPASE_BINDING;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_BINDING_BRIDGING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_BINDING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_GTPASE_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_RHOA_REG_PATHWAY;PID_THROMBIN_PAR1_PATHWAY	BIOCARTA_AKAP13_PATHWAY	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	Most normal cells showed moderate to strong cytoplasmic positivity. Cerebellum was negative.	http://www.proteinatlas.org/ENSG00000170776-AKAP13/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	gallbladder: 42.2	cytoplasm	.	BS2, PM1, PP3
H	15	90320496	rs185706635	T	C	222	PASS	MESP2	Mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	missense SNV	MESP2:NM_001039958:exon1:c.T908C:p.L303P	ENST00000341735.3,ENST00000560219.2,ENST00000558723.1,ENSG00000188095.4	.	15q26.1	.	.	.	.	.	rs185706635	Likely benign|Likely benign;not_specified|Jarcho-Levin_syndrome;RCV000253355.1|RCV000401898.1;MedGen|MedGen:SNOMED_CT;CN169374|C0265343:61367005	.	0.0249169	0.0198	0.00459265	.	0.00429180	267254	0.02989801	18630	0.02817723	0.03433099	.	.	.	0.001,D	0.093,B	0.331,B	0.999988,D	.	1.75,L	-2.17,D	6.8392	0.810	1.109	4.653746,24.5	3.53	.	VDB=0.00123274;SGB=-0.693147;RPB=0.830422;MQB=5.0255e-27;MQSB=0.725918;BQB=0.990847;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=251;DP4=38,62,33,67;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/1:200:255,0,255:100,100	T	C	0	1	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|15902259|9242490|10932180|15122512|16505380	GO_NOTCH_SIGNALING_PATHWAY	.	GO_PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188095-MESP2/tissue	FPKM<0.5 in all tissues <Not detected>	colon: 0.3	.	.	BP6
L	15	100252709	.	CCAGCAGCAGCAG	C	222	PASS	MEF2A	MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_001319206,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1035del:p.342_345del,MEF2A:NM_001130926:exon10:c.1228_1239del:p.410_413del,MEF2A:NM_001130927:exon10:c.1048_1059del:p.350_353del,MEF2A:NM_005587:exon11:c.1234_1245del:p.412_415del,MEF2A:NM_001171894:exon12:c.1228_1239del:p.410_413del,MEF2A:NM_001319206:exon12:c.1252_1263del:p.418_421del	ENST00000449277.6,ENSG00000068305.17,ENST00000557942.5,ENST00000557785.5,ENST00000561125.2,ENST00000354410.9,ENST00000558812.5,ENST00000338042.10	.	15q26.3	.	.	.	.	Score=306;Name="1630957:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01302488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.417886,14.04	.	.	INDEL;VDB=0.000839796;SGB=-0.693147;MQSB=0.976763;MQ0F=0;MQ=49;ICB=1;HOB=0.5;DP=728;DP4=133,42,235,136;IDV=59;IMF=0.830769;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:54:0,.	0/0:255,.,.:92:42,.	0/0:255,.,.:84:36,.	0/0:255,.,.:64:0,.	0/0:255,.,.:46:21,.	0/0:255,.,.:58:41,.	0/0:255,.,.:60:0,.	0/0:255,.,.:51:31,.	0/5:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,37:37:4,.,.,.,.,33	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAG,CCAGCAGCAGCAG,C,CCAGCAGCAG	0	1	{Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant	.	.	.	15496429|15057983|8269842|24075010|16484497|15958500|8575763|14630949|18093911|11001066|10531066|8114702|8548800|12379849|10825161|20434996|1748287|18760698|16484498|8697817|14645853|15841183|16469744|1516833	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_DEATH;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MYOFIBRIL_ASSEMBLY;GO_REGULATION_OF_HEART_CONTRACTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_CARDIOCYTE_DIFFERENTIATION;GO_MITOCHONDRION_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELL_PROJECTION_ORGANIZATION;GO_MITOCHONDRIAL_GENOME_MAINTENANCE;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_MITOCHONDRION_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DEVELOPMENT;GO_MITOCHONDRION_DISTRIBUTION;GO_MUSCLE_CELL_DEVELOPMENT;GO_CARDIAC_CONDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_CARDIAC_CELL_DEVELOPMENT;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX	GO_SMAD_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_HISTONE_DEACETYLASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CHROMATIN_BINDING;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_P38_ALPHA_BETA_DOWNSTREAM_PATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	General nuclear expression.	http://www.proteinatlas.org/ENSG00000068305-MEF2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 50.1	nucleus but not nucleoli	.	.
L	15	100252738	rs747168853	AGCAGCC	A	219	PASS	MEF2A	MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_001319206,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1053_1058del:p.351_353del,MEF2A:NM_001130926:exon10:c.1257_1262del:p.419_421del,MEF2A:NM_001130927:exon10:c.1077_1082del:p.359_361del,MEF2A:NM_005587:exon11:c.1263_1268del:p.421_423del,MEF2A:NM_001171894:exon12:c.1257_1262del:p.419_421del,MEF2A:NM_001319206:exon12:c.1281_1286del:p.427_429del	ENST00000338042.10,ENST00000354410.9,ENST00000558812.5,ENST00000449277.6,ENST00000557785.5,ENST00000561125.2,ENST00000557942.5,ENSG00000068305.17	.	15q26.3	.	.	.	.	Score=306;Name="1630957:(CAG)n(Simple_repeat)"	rs747168853	.	.	.	.	.	.	0.00024657	174390	0.00137788	11612	0.00428516	0.00142045	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.985188,0.283	.	.	INDEL;VDB=0.251316;SGB=-0.693146;MQSB=0.966578;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=92;DP4=8,3,29,14;IDV=30;IMF=0.322581;MinDP=10;AN=16;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:53:.:.	0/0:51:.:.	0/0:14:.:.	0/0:33:.:.	./.:.:.:.	0/0:11:.:.	0/0:39:.:.	0/1:54:255,0,79:11,43	AGCAGCC	A	0	1	{Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant	.	.	.	15496429|15057983|8269842|24075010|16484497|15958500|8575763|14630949|18093911|11001066|10531066|8114702|8548800|12379849|10825161|20434996|1748287|18760698|16484498|8697817|14645853|15841183|16469744|1516833	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_DEATH;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MYOFIBRIL_ASSEMBLY;GO_REGULATION_OF_HEART_CONTRACTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_CARDIOCYTE_DIFFERENTIATION;GO_MITOCHONDRION_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELL_PROJECTION_ORGANIZATION;GO_MITOCHONDRIAL_GENOME_MAINTENANCE;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_MITOCHONDRION_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DEVELOPMENT;GO_MITOCHONDRION_DISTRIBUTION;GO_MUSCLE_CELL_DEVELOPMENT;GO_CARDIAC_CONDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_CARDIAC_CELL_DEVELOPMENT;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX	GO_SMAD_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_HISTONE_DEACETYLASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CHROMATIN_BINDING;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_P38_ALPHA_BETA_DOWNSTREAM_PATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	General nuclear expression.	http://www.proteinatlas.org/ENSG00000068305-MEF2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 50.1	nucleus but not nucleoli	.	BP3
H	15	100252748	rs774172030	GCCA	G	125	PASS	MEF2A	MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_001319206,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1063_1065del:p.355_355del,MEF2A:NM_001130926:exon10:c.1267_1269del:p.423_423del,MEF2A:NM_001130927:exon10:c.1087_1089del:p.363_363del,MEF2A:NM_005587:exon11:c.1273_1275del:p.425_425del,MEF2A:NM_001171894:exon12:c.1267_1269del:p.423_423del,MEF2A:NM_001319206:exon12:c.1291_1293del:p.431_431del	ENST00000449277.6,ENST00000557785.5,ENST00000561125.2,ENST00000557942.5,ENSG00000068305.17,ENST00000338042.10,ENST00000354410.9,ENST00000558812.5	.	15q26.3	.	.	.	.	.	rs774172030	.	.	.	.	.	.	0.00007884	177586	0.00093953	11708	0.00093867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.175165,0.086	.	.	INDEL;VDB=2.59526e-10;SGB=-0.680642;MQSB=0.954391;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=96;DP4=10,4,8,4;IDV=16;IMF=0.166667;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:62:.:.	0/0:101:.:.	0/0:100:.:.	0/0:75:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:59:.:.	0/1:26:158,0,255:14,12	GCCA	G	0	1	{Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant	.	MEF2A deficiency(CD101285) || Coronary artery disease(CD068109)	AGCAG^423CCGCCgCCACCACCGC|c.1272delG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=19782985&amp;dopt=Abstract) || GCAGCAG^423CCGccgCCACCACCGC|c.1272_1274delGCC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=16951497&amp;dopt=Abstract)	19782985|16951497|15496429|15057983|8269842|24075010|16484497|15958500|8575763|14630949|18093911|11001066|10531066|8114702|8548800|12379849|10825161|20434996|1748287|18760698|16484498|8697817|14645853|15841183|16469744|1516833	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_DEATH;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MYOFIBRIL_ASSEMBLY;GO_REGULATION_OF_HEART_CONTRACTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_CARDIAC_MUSCLE_CELL_DIFFERENTIATION;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_MYOFIBRIL_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_HEART_DEVELOPMENT;GO_ORGANELLE_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_CARDIOCYTE_DIFFERENTIATION;GO_MITOCHONDRION_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELL_PROJECTION_ORGANIZATION;GO_MITOCHONDRIAL_GENOME_MAINTENANCE;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_MITOCHONDRION_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_MUSCLE_CELL_DIFFERENTIATION;GO_PHOSPHORYLATION;GO_VENTRICULAR_CARDIAC_MUSCLE_CELL_DEVELOPMENT;GO_MITOCHONDRION_DISTRIBUTION;GO_MUSCLE_CELL_DEVELOPMENT;GO_CARDIAC_CONDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_CARDIAC_CELL_DEVELOPMENT;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX	GO_SMAD_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_HISTONE_DEACETYLASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CHROMATIN_BINDING;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_P38_ALPHA_BETA_DOWNSTREAM_PATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	General nuclear expression.	http://www.proteinatlas.org/ENSG00000068305-MEF2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 50.1	nucleus but not nucleoli	.	PM4
H	15	101042009	rs201614149	G	A	222	PASS	CERS3	Ceramide synthase 3	exonic	NM_001290341,NM_001290342,NM_001290343,NM_178842	.	missense SNV	CERS3:NM_001290342:exon4:c.C46T:p.L16F,CERS3:NM_001290343:exon4:c.C46T:p.L16F,CERS3:NM_178842:exon4:c.C46T:p.L16F,CERS3:NM_001290341:exon5:c.C79T:p.L27F	ENST00000538112.6,ENSG00000154227.13,ENST00000560944.1,ENST00000394113.5,ENST00000284382.8,ENST00000559023.5,ENST00000558884.6	.	15q26.3	.	.	.	.	.	rs201614149	.	.	0.00166113	0.001	0.000199681	.	0.00008303	276996	0.00116612	18866	0.00077730	0.00176056	.	-0.4907	.	0.17,T	0.927,D	0.999,D	1,D	0.000015,D	2.045,M	-1.58,D	14.5837	2.583	4.098	4.523067,24.3	5.19	0.0459107994521	VDB=0.000974977;SGB=-0.693143;RPB=0.953357;MQB=2.29912e-07;MQSB=0.844802;BQB=0.936223;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=102;DP4=22,19,21,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:79:255,0,255:41,38	G	A	0	1	Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive	.	.	.	23549421|16753040|26045466|23754960	GO_EPITHELIUM_DEVELOPMENT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CERAMIDE_BIOSYNTHETIC_PROCESS;GO_EPIDERMAL_CELL_DIFFERENTIATION;GO_SPHINGOLIPID_METABOLIC_PROCESS;GO_KERATINOCYTE_DIFFERENTIATION;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_EPIDERMIS_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CERAMIDE_METABOLIC_PROCESS;GO_SPHINGOLIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS;GO_SKIN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;GO_TISSUE_DEVELOPMENT	GO_NUCLEAR_ENVELOPE;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_N_ACYLTRANSFERASE_ACTIVITY	.	.	.	REACTOME_SPHINGOLIPID_DE_NOVO_BIOSYNTHESIS;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	RNA data suggests expression in a selected group of tissues, most abundant in skin. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000154227-CERS3/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	fallopian tube: 0.8	nucleus but not nucleoli; cytoplasm	.	PM2, PP3
H-	15	101514178	rs56009312	G	A	120	PASS	LRRK1	Leucine-rich repeat kinase 1	splicing	NM_024652	NM_024652:exon3:c.261+6G>A	.	.	ENST00000525284.5,ENST00000532029.6,ENST00000531270.5,ENST00000527698.1,ENST00000388948.7,ENSG00000154237.12	CpG: 125	15q26.3	.	.	.	.	.	rs56009312	.	.	0.00830565	0.0069	0.00139776	.	0.00012929	38674	0.00285063	1754	0.00583204	0.00528169	0,0	15.2587	.	.	.	.	.	.	.	.	.	-1.017	0.312	.	.	.	VDB=0.471462;SGB=-0.651104;RPB=0.161271;MQB=0.00180754;MQSB=0.938795;BQB=0.566419;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=22;DP4=8,2,7,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:18:153,0,227:10,8	G	A	0	1	Leucine-rich repeat kinase 1, 610986	.	.	.	27055475|16243488|8255649|17225181|23526378	GO_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_BONE_CELL_DEVELOPMENT;GO_HOMEOSTATIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_TISSUE_HOMEOSTASIS;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_LEUKOCYTE_DIFFERENTIATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_BONE_DEVELOPMENT;GO_BONE_REMODELING;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_TISSUE_REMODELING;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_MYELOID_CELL_DIFFERENTIATION;GO_BONE_RESORPTION;GO_CELL_DEVELOPMENT;GO_PHOSPHORYLATION;GO_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	GO_MITOCHONDRION	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic and membranous staining was found in the majority of normal cells. Gastro intestinal tract showed strong staining, most other cells were moderately stained. Pyramidal neurons in cerebral cortex were positive whilst motor neurons were negative. A subset of late spermatids in testis showed distinct staining.	http://www.proteinatlas.org/ENSG00000154237-LRRK1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lymph node: 9.0	cytoplasm; mitochondria	.	.
H	16	105779	rs200095997	G	A	222	PASS	SNRNP25	.	exonic	NM_024571	.	missense SNV	SNRNP25:NM_024571:exon3:c.G163A:p.V55M	ENST00000481947.1,ENST00000383018.7,ENST00000397876.6,ENST00000293861.7,ENST00000417493.1,ENST00000493672.1,ENSG00000161981.10,ENST00000466183.1	.	16p13.3	.	.	.	.	.	rs200095997	.	.	.	.	.	.	0.00002169	276628	0.00005302	18862	0.00019433	.	.	-1.7057	Ubiquitin-like;Ubiquitin-related domain	0.002,D	0.844,P	0.996,D	0.999714,D	0.000014,D	2.765,M	2.51,T	16.6779	2.537	6.789	5.146397,25.4	5.39	0.0335786393915	VDB=0.231721;SGB=-0.693147;RPB=0.824734;MQB=9.03384e-16;MQSB=0.745502;BQB=0.519081;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=155;DP4=46,16,31,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/1:110:255,0,255:62,48	G	A	0	1	.	.	.	.	.	GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_SPLICING	GO_SPLICEOSOMAL_COMPLEX;GO_INTERCELLULAR_BRIDGE;GO_RIBONUCLEOPROTEIN_COMPLEX;GO_U12_TYPE_SPLICEOSOMAL_COMPLEX	.	.	.	.	.	Mainly cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000161981-SNRNP25/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 35.7	nucleus but not nucleoli; cytoplasm; cytoskeleton (cytokinetic bridge)	.	PM1, PM2, PP3
L	16	602174	.	G	T	222	PASS	CAPN15	.	exonic	NM_005632	.	synonymous SNV	CAPN15:NM_005632:exon10:c.G2469T:p.R823R	ENSG00000261691.1,ENST00000219611.6,ENSG00000103326.11,ENST00000565879.1	.	16p13.3	.	.	Score=877;Name=V$ZID_01	.	.	.	.	.	.	.	.	.	0.00001200	166694	0.00008618	11604	.	0.00088496	.	1.0711	.	.	.	.	.	.	.	.	.	-3.290	-2.850	.	.	.	VDB=0.169534;SGB=-0.693097;RPB=0.684691;MQB=0.000145301;MQSB=0.816207;BQB=0.974719;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=77;DP4=17,7,24,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:54:.:.	0/0:50:.:.	0/0:33:.:.	0/0:35:.:.	0/0:35:.:.	0/1:54:255,0,255:24,30	G	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	High cytoplasmic expression in a few tissues.	http://www.proteinatlas.org/ENSG00000103326-CAPN15/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 10.3	nucleus	.	BP7, PM2
H	16	682958	.	C	T	222	PASS	WFIKKN1	WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1	exonic	NM_053284	.	missense SNV	WFIKKN1:NM_053284:exon2:c.C548T:p.P183L	ENST00000573440.1,ENSG00000127578.6,ENST00000319070.2	CpG: 324	16p13.3	.	.	Score=810;Name=V$ARP1_01	.	.	.	.	.	.	.	.	.	0.00000506	197490	0.00006417	15584	.	0.00088810	.	.	.	0.216,T	0.016,B	0.016,B	0.854277,D	0.000002,D	2.16,M	-0.38,T	9.7195	-0.147	2.099	1.252964,12.02	.	0.0418850072608	VDB=0.841018;SGB=-0.693147;RPB=0.729743;MQB=1.14511e-14;MQSB=0.207298;BQB=0.93925;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=113;DP4=37,13,27,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:56:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:62:.:.	0/0:53:.:.	0/0:63:.:.	0/1:95:255,0,255:50,45	C	T	0	1	WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1, 608021	.	.	.	24019467|12709070|11274388	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_DNA_BINDING;GO_NEGATIVE_REGULATION_OF_PROTEIN_BINDING;GO_PALATE_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_REGULATION_OF_DNA_BINDING;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_BINDING;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_MUSCLE_FIBER_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_BINDING;GO_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_PROTEOLYSIS;GO_MUSCLE_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	.	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY;GO_METALLOENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	Cytoplasmic expression in several cell types, most abundant in adrenal gland.	http://www.proteinatlas.org/ENSG00000127578-WFIKKN1/tissue	FPKM<0.5 in all tissues <Not detected>	spleen: 0.1	.	.	PM2
H+	16	845730	rs112771916	G	T	215	PASS	CHTF18	Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of	exonic	NM_022092	.	missense SNV	CHTF18:NM_022092:exon17:c.G2221T:p.V741L	ENST00000471202.5,ENST00000493715.1,ENST00000464728.5,ENST00000455171.6,ENSG00000127586.16,ENST00000317063.10,ENST00000631357.2,ENST00000262315.13	.	16p13.3	.	.	.	.	.	rs112771916	.	.	0.0249169	0.0248	0.00519169	0.0006	0.00259281	269592	0.02828164	18634	0.04027237	0.04795737	.	0.2262	.	0.54,T	0.07,B	0.226,B	0.999118,D	0.000019,D	1.515,L	2.92,T	15.6007	2.029	0.803	1.473850,13.17	4.41	.	VDB=0.3774;SGB=-0.693144;RPB=0.253314;MQB=2.21462e-10;MQSB=1;BQB=0.999808;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=214;DP4=96,0,65,4;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/1:79:229,0,230:40,39	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/1:86:248,0,229:56,30	G	T	0	2	Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of, 613201	.	.	.	12930902|12766176|12171929|19907496	GO_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DNA_DEPENDENT_DNA_REPLICATION;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_CELL_CYCLE;GO_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_DNA_REPLICATION;GO_DNA_REPLICATION;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_SINGLE_STRANDED_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000127586-CHTF18/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 3.9	nucleus but not nucleoli; cytoplasm	.	BS1
M	16	1551674	rs367975943	G	A	222	PASS	TELO2	Telomere maintenance 2, S. cerevisiae, homolog of	exonic	NM_016111	.	missense SNV	TELO2:NM_016111:exon11:c.G1372A:p.V458I	ENST00000262319.10,ENST00000497339.6,ENSG00000100726.14	.	16p13.3	.	.	.	.	.	rs367975943	.	.	0	0.002	0.000399361	.	0.00007737	271440	0.00108155	18492	.	.	.	-0.5526	.	0.152,T	0.004,B	0.01,B	1,N	0.114326,N	0.695,N	-1.58,D	6.0734	-0.856	-0.190	.	.	0.037852702193	VDB=0.139848;SGB=-0.693147;RPB=0.52532;MQB=1.68822e-31;MQSB=0.993791;BQB=0.99991;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=300;DP4=61,45,68,50;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:224:255,0,255:106,118	G	A	0	1	You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive	.	.	.	18995830|20810650|9734811|12670948|18160036|20801936|27132593	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TOR_SIGNALING;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PROTEIN_STABILIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_STABILITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_TOR_SIGNALING;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_PERIPHERY;GO_CHROMOSOME_TELOMERIC_REGION;GO_TOR_COMPLEX	GO_PROTEIN_COMPLEX_SCAFFOLD;GO_HEAT_SHOCK_PROTEIN_BINDING;GO_KINASE_BINDING;GO_HSP90_PROTEIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_ENZYME_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	General cytoplasmic expression often combined with nuclear expression.	http://www.proteinatlas.org/ENSG00000100726-TELO2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 10.2	nucleus; cytoplasm	.	PM2
L	16	1825370	rs373784892	C	G	222	PASS	EME2	Essential meiotic endonuclease 1, S. pombe, homolog of, 2	exonic	NM_001257370	.	synonymous SNV	EME2:NM_001257370:exon5:c.C624G:p.A208A	ENST00000568449.5,ENST00000561564.5,ENSG00000197774.12,ENST00000570069.5,ENST00000565326.1,ENST00000561903.6	.	16p13.3	.	.	.	.	.	rs373784892	.	.	0	0.001	0.000199681	.	0.00008745	274430	0.00106225	18828	0.00058298	.	.	-1.3561	.	.	.	.	.	.	.	.	.	-0.608	-0.208	.	.	.	VDB=0.644855;SGB=-0.693147;RPB=0.974083;MQB=5.88459e-15;MQSB=0.980825;BQB=0.85794;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=147;DP4=44,19,34,14;MinDP=66;AN=18;AC=1	GT:DP:PL:AD	0/0:66:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:71:.:.	0/0:72:.:.	0/0:81:.:.	0/0:97:.:.	0/1:111:255,0,255:63,48	C	G	0	1	Essential meiotic endonuclease 1, S. pombe, homolog of, 2, 610886	.	.	.	12721304|17289582	GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_DNA_REPAIR;GO_DNA_RECOMBINATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_METABOLIC_PROCESS	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEASE_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000197774-EME2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	stomach: 0.7	.	.	BP7, PM2
L+	16	2231299	rs117397730	C	G	222	PASS	CASKIN1	CASK-interacting protein 1	exonic	NM_020764	.	synonymous SNV	CASKIN1:NM_020764:exon18:c.G2070C:p.T690T	ENSG00000167971.15,ENST00000343516.7	.	16p13.3	.	.	.	.	.	rs117397730	.	.	0.0265781	0.0308	0.0061901	8.2e-05	0.00225565	255802	0.02539803	18466	0.02409639	0.02039007	.	-0.0242	.	.	.	.	.	.	.	.	.	-0.114	0.893	.	.	.	VDB=0.712123;SGB=-0.693139;RPB=0.0806996;MQB=1.22469e-11;MQSB=0.584128;BQB=0.183219;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=211;DP4=77,22,52,18;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:57:.:.	0/0:51:.:.	0/0:52:.:.	0/0:50:.:.	0/1:80:255,0,255:44,36	0/1:89:255,0,255:55,34	C	G	0	2	CASK-interacting protein 1, 612184	.	.	.	10718198|12040031	.	.	GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	Cytoplasmic expression in CNS	http://www.proteinatlas.org/ENSG00000167971-CASKIN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 0.3	nucleus; cytoplasm	.	BP7
L	16	2259624	rs200211842	G	A	222	PASS	BRICD5	.	exonic	NM_182563	.	synonymous SNV	BRICD5:NM_182563:exon5:c.C522T:p.P174P	ENST00000562360.5,ENSG00000182685.7,ENST00000328540.7	.	16p13.3	.	.	.	.	.	rs200211842	.	.	0.00664452	0.004	0.000798722	.	0.00030757	276364	0.00408705	18840	0.00213758	0.00088810	.	0.2932	.	.	.	.	.	.	.	.	.	-0.306	-1.172	.	.	.	VDB=0.282752;SGB=-0.693145;RPB=0.491235;MQB=1.28169e-10;MQSB=0.745454;BQB=0.968932;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=110;DP4=19,28,21,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/0:52:.:.	0/0:51:.:.	0/0:53:.:.	0/1:87:255,0,255:47,40	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Moderate to strong cytoplasmic positivity with a granular pattern was observed in prostate, pancreas, salivary gland, gastric chief cells, glandular cells in cervix and endometrium. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000182685-BRICD5/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 6.0	cytoskeleton (actin filaments); nucleus but not nucleoli	.	BP7, PM2
H	16	2812498	rs199497812	C	T	222	PASS	SRRM2	Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD)	exonic	NM_016333	.	missense SNV	SRRM2:NM_016333:exon11:c.C1969T:p.R657C	ENSG00000167978.16,ENST00000571378.5,ENST00000576924.5,ENST00000630499.2,ENST00000301740.12	CpG: 24	16p13.3	.	.	Score=774;Name=V$PAX5_02	.	.	rs199497812	.	.	0	0.003	0.000798722	7.7e-05	0.00009037	276646	0.00084899	18846	0.00038865	0.00088028	.	.	Spt5 C-terminal domain	0.005,D	0.965,D	1.0,D	0.999991,N	0.000021,D	0.695,N	1.68,T	17.7807	-0.300	-1.361	.	.	0.00538513034917	VDB=0.0691919;SGB=-0.693147;RPB=0.245885;MQB=9.41673e-42;MQSB=0.524807;BQB=0.819961;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=381;DP4=102,58,85,37;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:282:255,0,255:160,122	C	T	0	1	Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD), 606032	.	.	.	10668804|9205841|11004489|14578391	GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_RNA_SPLICING_VIA_TRANSESTERIFICATION_REACTIONS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_SPLICING	GO_NUCLEAR_SPECK;GO_CAJAL_BODY;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART;GO_CATALYTIC_STEP_2_SPLICEOSOME;GO_SPLICEOSOMAL_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_C2H2_ZINC_FINGER_DOMAIN_BINDING;GO_POLY_A_RNA_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_PROTEIN_N_TERMINUS_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000167978-SRRM2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 129.0	nucleus but not nucleoli	.	PM1, PM2
H	16	2983123	rs147737914	T	C	222	PASS	FLYWCH1	.	splicing	NM_001308068,NM_020912,NM_032296	NM_001308068:exon5:c.797-8T>C;NM_020912:exon5:c.794-8T>C;NM_032296:exon5:c.794-8T>C	.	.	ENST00000253928.13,ENSG00000059122.16,ENST00000416288.6,ENST00000573564.5	.	16p13.3	.	.	.	.	.	rs147737914	.	.	0.0149502	0.0238	0.00479233	.	0.00202677	272354	0.02722641	18842	0.03342402	0.02728873	0,0	0.0883	.	.	.	.	.	.	.	.	.	-0.853	-1.111	.	.	.	VDB=0.0359673;SGB=-0.693147;RPB=0.334794;MQB=1.15883e-14;MQSB=0.699092;BQB=0.710694;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=166;DP4=52,15,34,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:98:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/1:117:255,0,255:67,50	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000059122-FLYWCH1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 12.9	nucleus; cytoplasm	.	.
H	16	3168989	rs555833704	GAGA	G	222	PASS	ZNF205	Zinc finger protein-205	exonic	NM_001042428,NM_001278158,NM_003456	.	nonframeshift deletion	ZNF205:NM_001042428:exon6:c.569_571del:p.190_191del,ZNF205:NM_001278158:exon6:c.569_571del:p.190_191del,ZNF205:NM_003456:exon6:c.569_571del:p.190_191del	ENST00000570935.1,ENST00000572691.2,ENSG00000122386.10,ENST00000382192.7,ENST00000576490.1,ENSG00000263072.6,ENST00000575139.1,ENST00000414351.5,ENST00000219091.8,ENST00000620094.4	.	16p13.3	.	.	.	.	.	rs555833704	.	.	.	.	.	0.0002	0.00007594	276526	0.00047755	18846	0.00097163	0.00176367	.	.	.	.	.	.	.	.	.	.	.	.	.	1.363723,10.49	.	.	INDEL;VDB=0.000100037;SGB=-0.693054;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=74;DP4=21,14,14,14;IDV=30;IMF=0.405405;MinDP=30;AN=16;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:52:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	./.:.:.:.	0/1:63:255,0,255:35,28	GAGA	G	0	1	Zinc finger protein-205, 603436	.	.	.	9787081	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS;GO_MITOCHONDRIAL_TRANSPORT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEATH;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_HYDROGEN_PEROXIDE_METABOLIC_PROCESS;GO_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_MITOCHONDRION	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Proximal tubules of the kidney, seminal vesicle and epididymis showed moderate cytoplasmic positivity. Remaining normal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000122386-ZNF205/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 6.3	nucleus but not nucleoli	.	PM2, PM4
H	16	3306553	rs533833365	G	A	222	PASS	MEFV	Pyrin (marenostrin)	exonic	NM_000243,NM_001198536	.	missense SNV	MEFV:NM_000243:exon1:c.C35T:p.T12I,MEFV:NM_001198536:exon1:c.C35T:p.T12I	ENST00000536980.5,ENST00000537682.5,ENSG00000103313.12,ENST00000576315.5,ENST00000538326.5,ENST00000542898.5,ENST00000574583.5,ENST00000570511.5,ENST00000572244.5,ENST00000339854.8,ENST00000536379.5,ENST00000219596.5,ENST00000539145.5,ENST00000541159.5	.	16p13.3	.	.	Score=809;Name=V$OLF1_01	.	.	rs533833365	.	.	0	0.001	0.000199681	.	0.00000812	246260	.	.	0.00019433	.	.	.	DAPIN domain;Death-like domain	0.001,D	0.939,D	0.997,D	0.995024,N	0.021529,N	1.245,L	0.81,T	11.3518	1.537	2.518	3.405036,23.0	5.02	0.0171748226319	VDB=0.0159945;SGB=-0.693147;RPB=0.79426;MQB=4.05704e-20;MQSB=0.177446;BQB=0.909965;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=200;DP4=42,35,31,39;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:147:255,0,255:77,70	G	A	0	1	Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive	.	.	.	10090880|14679589|21290976|22995991|9668175|19863562|10036584|10787449|11017802|10364520|10807793|10818206|12667444|16785446|9603438|9781020|16564365|18177465|9288094|11938447|12687559|11528510|11977178|19755381|9288758|17711558|11484206|11313758|11468188|11175300|11781702|11903360|11256068|11115844|11242116|14595024|11464238|24919149|11464248|17964261|7677151	GO_REGULATION_OF_NLRP3_INFLAMMASOME_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_AUTOPHAGY;GO_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_INTERLEUKIN_1_BETA_PRODUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CHEMOKINE_PRODUCTION;GO_REGULATION_OF_INTERLEUKIN_1_PRODUCTION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CHEMOKINE_PRODUCTION;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_BETA_PRODUCTION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_AUTOPHAGY;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_INTERLEUKIN_12_PRODUCTION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS	GO_MICROTUBULE_CYTOSKELETON;GO_AUTOPHAGOSOME;GO_VACUOLE;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_LAMELLIPODIUM;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_RUFFLE;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	KEGG_NOD_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_THE_NLRP3_INFLAMMASOME;REACTOME_INFLAMMASOMES;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	.	http://www.proteinatlas.org/ENSG00000103313-MEFV/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 3.2	.	.	PM1, PM2
L	16	3349647	rs185294194	G	C	222	PASS	TIGD7	Tigger transposable element-derived gene 7	exonic	NM_033208	.	missense SNV	TIGD7:NM_033208:exon2:c.C968G:p.T323S	ENST00000575332.1,ENST00000574674.1,ENSG00000140993.10,ENSG00000006194.9,ENST00000396862.1	.	16p13.3	.	.	.	.	Score=227;Name="1640107:Tigger3(DNA)"	rs185294194	.	.	0.00830565	0.0139	0.00279553	.	0.00097394	227940	0.01317351	16852	0.01029926	0.01144366	.	.	.	0.01,D	0.035,B	0.006,B	0.996419,N	0.022355,N	1.59,L	1.13,T	12.7268	2.055	3.962	.	4.52	.	VDB=0.0673014;SGB=-0.693079;RPB=0.992291;MQB=1.31268e-07;MQSB=0.253092;BQB=0.769925;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=77;DP4=19,10,15,14;MinDP=26;AN=18;AC=1	GT:DP:PL:AD	0/0:26:.:.	0/0:42:.:.	0/0:50:.:.	0/0:37:.:.	0/0:32:.:.	0/0:38:.:.	0/0:30:.:.	0/0:52:.:.	0/1:58:255,0,255:29,29	G	C	0	1	Tigger transposable element-derived gene 7, 612969	.	.	.	15487591|8643651	.	.	.	.	.	.	.	General nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000140993-TIGD7/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 7.5	plasma membrane; cytoplasm	.	BP4
L	16	4431142	rs571697999	C	T	222	PASS	VASN	Vasorin	exonic	NM_138440	.	synonymous SNV	VASN:NM_138440:exon2:c.C264T:p.I88I	ENSG00000262246.5,ENST00000575714.5,ENST00000572467.5,ENST00000575334.5,ENSG00000103426.12,ENST00000537233.6,ENST00000576437.5,ENSG00000168140.4,ENST00000572549.5,ENST00000571227.5,ENST00000571756.5,ENST00000572044.1,ENST00000574025.5,ENST00000251166.8,ENST00000304735.3,ENST00000574311.5	.	16p13.3	.	.	.	.	.	rs571697999	.	.	0.00166113	0.001	0.000199681	.	0.00005217	268368	0.00027121	18436	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-0.486	-0.281	1.016642,10.76	.	.	VDB=0.509012;SGB=-0.693147;RPB=0.999868;MQB=3.49366e-16;MQSB=0.274384;BQB=0.933094;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=701;DP4=165,55,215,63;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:228:255,0,255:98,130	0/0:102:.:.	0/1:270:255,0,255:122,148	C	T	0	2	Vasorin, 608843	.	.	.	15247411	GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_RESPONSE_TO_REDOX_STATE;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION	GO_VACUOLE;GO_EXTRACELLULAR_SPACE;GO_VACUOLAR_PART;GO_MITOCHONDRION;GO_CELL_SURFACE;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_CYTOKINE_BINDING;GO_TRANSFORMING_GROWTH_FACTOR_BETA_BINDING;GO_GROWTH_FACTOR_BINDING	.	.	.	.	The salivary gland and subsets of cells in the gastric mucosa showed strong cytoplasmic staining. Renal cells, heart muscle and neurons in CNS were moderately stained. Most other normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000168140-VASN/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 22.6	.	.	BP7, PM2
L	16	4744113	rs534519989	C	T	222	PASS	NUDT16L1	Nudix hydrolase 16-like 1	exonic	NM_001193452,NM_032349	.	synonymous SNV	NUDT16L1:NM_001193452:exon2:c.C288T:p.Y96Y,NUDT16L1:NM_032349:exon2:c.C288T:p.Y96Y	ENSG00000168101.14,ENST00000586536.1,ENST00000405142.1,ENST00000304301.10,ENST00000586252.1,ENST00000590460.1	CpG: 126	16p13.3	.	.	.	.	.	rs534519989	.	.	0.00166113	0.001	0.000199681	.	0.00001845	216754	0.00019040	15756	.	.	.	0.1621	.	.	.	.	.	.	.	.	.	0.743	0.336	.	3.19	.	VDB=0.872646;SGB=-0.693147;RPB=0.943759;MQB=1.6699e-23;MQSB=0.867728;BQB=0.990209;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=216;DP4=54,35,56,30;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:175:255,0,255:89,86	C	T	0	1	Nudix hydrolase 16-like 1, 617338	.	.	.	10633082|11805099|28241136	.	.	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_IDENTICAL_PROTEIN_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_SNORNA_BINDING	.	PID_SYNDECAN_4_PATHWAY	.	.	General cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000168101-NUDT16L1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 19.5	plasma membrane; cytoplasm	.	PM2
H	16	8619960	.	C	A	222	PASS	TMEM114	Transmembrane protein 114	exonic	NM_001146336,NM_001290095,NM_001290097	.	unknown	UNKNOWN	ENST00000444171.1,ENSG00000232258.6,ENST00000624696.1,ENST00000620492.4,ENST00000568335.3	CpG: 21	16p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589,P	0.821,P	.	.	2.585,M	.	16.8241	2.214	4.466	3.477473,23.1	4.79	.	VDB=0.0353459;SGB=-0.693147;RPB=0.226257;MQB=1.86915e-13;MQSB=0.644503;BQB=0.473779;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=139;DP4=24,35,28,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:100:.:.	0/1:109:255,0,255:59,50	C	A	0	1	Transmembrane protein 114, 611579	.	.	.	17492639	.	GO_APICAL_PART_OF_CELL;GO_APICOLATERAL_PLASMA_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000232258-TMEM114/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM2, PP3
L	16	12009530	.	C	CCCGCCGCCG	228	PASS	GSPT1	G1 to S phase transition-1	exonic	NM_001130006,NM_002094	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.47_48insCGGCGGCGG:p.G16delinsGGGG,GSPT1:NM_002094:exon1:c.47_48insCGGCGGCGG:p.G16delinsGGGG	ENSG00000266163.1,ENST00000434724.6,ENSG00000103342.12,ENST00000420576.6,ENST00000583357.1,ENST00000439887.6	CpG: 131	16p13.13	.	.	.	.	Score=354;Name="1660397:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	0.00078933	89950	0.00799031	4130	0.01246044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0192844;SGB=-0.556411;MQSB=0.921579;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=257;DP4=21,38,43,71;IDV=44;IMF=0.657143;MinDP=30;AN=14;AC=1	GT:PL:DP:AD	0/0:65,.,.:24:20,.	0/0:255,.,.:36:17,.	0/0:255,.,.:37:19,.	./.:.:.:.	./.:.:.:.	0/0:.:31:.	0/0:255,.,.:26:1,.	0/0:.:30:.	2/3:255,.,.,255,.,255,255,.,.,255:50:2,.,29,17	CCCG	C,CCCGCCG,CCCGCCGCCGCCG	0	1	G1 to S phase transition-1, 139259	.	.	.	16777602|9712840|2511002|2841115|9154815|1574740|16582619	GO_CYTOPLASMIC_TRANSLATION;GO_CELLULAR_PROTEIN_COMPLEX_DISASSEMBLY;GO_CELLULAR_CATABOLIC_PROCESS;GO_CELL_CYCLE_PHASE_TRANSITION;GO_TRANSLATIONAL_TERMINATION;GO_PEPTIDE_METABOLIC_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_MACROMOLECULAR_COMPLEX_DISASSEMBLY;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_CELL_CYCLE;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_MRNA_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY;GO_METHYLATION;GO_RNA_CATABOLIC_PROCESS;GO_MACROMOLECULE_METHYLATION;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_PROTEIN_ALKYLATION;GO_CATABOLIC_PROCESS;GO_CELL_CYCLE_PROCESS	.	GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSLATION_FACTOR_ACTIVITY_RNA_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000103342-GSPT1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 69.4	cytoplasm; vesicles	.	BP3
L	16	17232233	rs34653270	C	T	222	PASS	XYLT1	Xylosyltransferase 1	exonic	NM_022166	.	synonymous SNV	XYLT1:NM_022166:exon8:c.G1743A:p.P581P	ENST00000261381.6,ENST00000567344.1,ENSG00000103489.11,ENSG00000261448.1	.	16p12.3	.	.	Score=816;Name=V$PPARG_03	.	.	rs34653270	.	.	0.00664452	0.005	0.00638978	0.0083	0.00230415	276892	0.00440038	18862	0.01088224	0.01232394	.	-0.1121	.	.	.	.	.	.	.	.	.	-2.165	-4.896	1.406745,12.82	.	.	VDB=0.83285;SGB=-0.693147;RPB=0.813248;MQB=6.53324e-12;MQSB=0.988462;BQB=0.884069;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=112;DP4=29,4,40,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:82:255,0,255:33,49	C	T	0	1	Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive	.	.	.	24581741|11814476|11099377|10383739|11087729|16571645|23982343	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_CHONDROITIN_SULFATE_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_HEPARAN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_GOLGI_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY;GO_ACETYLGLUCOSAMINYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE;KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000103489-XYLT1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 5.9	.	.	BP7
H	16	19516398	rs2072086	C	T	222	PASS	GDE1	Glycerophosphodiester phosphodiesterase 1	exonic	NM_001324066,NM_001324067,NM_016641	.	missense SNV	GDE1:NM_001324067:exon4:c.G560A:p.R187Q,GDE1:NM_001324066:exon5:c.G323A:p.R108Q,GDE1:NM_016641:exon5:c.G653A:p.R218Q	ENST00000563645.1,ENST00000564172.1,ENSG00000006007.11,ENST00000353258.7,ENST00000569899.5	.	16p12.3	.	.	.	.	.	rs2072086	.	.	0	0.0139	0.00279553	7.7e-05	0.00023104	277010	0.00307431	18866	0.00174893	0.00088028	.	-0.1927	Glycerophosphodiester phosphodiesterase domain;PLC-like phosphodiesterase, TIM beta/alpha-barrel domain	0.405,T	0.004,B	0.004,B	0.932669,N	0.059671,N	0.465,N	2.79,T	9.2607	-0.401	1.481	1.715174,14.49	.	.	VDB=0.0570915;SGB=-0.69168;RPB=0.834235;MQB=0.000417218;MQSB=0.0693405;BQB=0.617257;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=50;DP4=12,5,9,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:36:255,0,255:17,19	C	T	0	1	Glycerophosphodiester phosphodiesterase 1, 605943	.	.	.	10493829|10760272	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_PHOSPHOLIPID_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_VESICLE_MEMBRANE;GO_INTRACELLULAR_VESICLE;GO_CYTOPLASMIC_VESICLE_PART	GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000006007-GDE1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	rectum: 36.9	nucleoli; nucleus; vesicles	.	PM1
H	16	19639972	rs567680668	G	A	219	PASS	C16orf62	.	exonic	NM_001300743,NM_020314	.	missense SNV	C16orf62:NM_001300743:exon15:c.G1463A:p.R488Q,C16orf62:NM_020314:exon17:c.G1664A:p.R555Q	ENST00000543152.5,ENST00000251143.9,ENST00000542263.5,ENST00000438132.7,ENST00000448695.5,ENST00000417362.6,ENSG00000103544.14	.	16p12.3	.	.	.	.	.	rs567680668	.	.	0.00332226	0.003	0.000599042	.	0.00014674	265772	0.00206912	17882	0.00155461	.	.	-0.4263	.	0.02,D	0.374,B	0.948,P	0.999985,D	0.000004,D	1.5,L	1.58,T	19.4515	2.683	4.953	4.750987,24.7	5.7	0.0140745897367	VDB=0.476193;SGB=-0.688148;RPB=0.999287;MQB=4.12042e-05;MQSB=0.776566;BQB=0.894574;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=48;DP4=16,1,13,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:32:252,0,255:17,15	G	A	0	1	.	.	.	.	.	GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT;GO_PROTEIN_LOCALIZATION;GO_GOLGI_VESICLE_TRANSPORT	GO_VACUOLE;GO_EARLY_ENDOSOME;GO_ENDOSOME	.	.	.	.	.	Cytoplasmic and membranous expression in a few tissues.	http://www.proteinatlas.org/ENSG00000103544-C16orf62/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 28.4	mitochondria	.	PM2
L	16	20448411	rs143897478	A	G	222	PASS	ACSM5	Acyl-CoA synthetase medium-chain family, member 5	exonic	NM_001324371,NM_001324372,NM_017888	.	missense SNV	ACSM5:NM_001324371:exon11:c.A1346G:p.D449G,ACSM5:NM_001324372:exon11:c.A1346G:p.D449G,ACSM5:NM_017888:exon11:c.A1346G:p.D449G	ENST00000577024.1,ENSG00000183549.10,ENST00000331849.8	.	16p12.3	.	.	.	Score=0.978949;Name=chr16:20533667	.	rs143897478	.	.	.	.	.	0.0011	0.00226699	276578	0.01210063	18842	0.00582977	0.00528169	.	-0.0257	AMP-dependent synthetase/ligase	0.108,T	0.079,B	0.029,B	0.783004,D	0.020077,N	0.475,N	1.38,T	9.8543	0.370	3.129	2.694962,20.8	2.84	.	VDB=0.325168;SGB=-0.693146;RPB=0.954008;MQB=6.38138e-06;MQSB=0.613202;BQB=0.873205;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=243;DP4=67,26,74,21;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:82:38,44	0/0:.:100:.	0/0:.:101:.	0/0:.:101:.	0/0:.:50:.	0/0:.:100:.	0/0:.:96:.	0/0:.:101:.	0/1:255,0,255:106:55,51	A	G	0	2	Acyl-CoA synthetase medium-chain family, member 5, 614361	.	.	.	17762044	GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_LIGASE_ACTIVITY_FORMING_CARBON_SULFUR_BONDS;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_ACID_THIOL_LIGASE_ACTIVITY;GO_LIGASE_ACTIVITY	KEGG_BUTANOATE_METABOLISM	.	.	.	Cytoplasmic expression in liver and kidney.	http://www.proteinatlas.org/ENSG00000183549-ACSM5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adipose tissue: 17.3	.	.	PM1
H	16	20946664	rs2301618	C	T	221	PASS	DNAH3	Dynein, axonemal, heavy chain 3	splicing	NM_001347886,NM_017539	NM_001347886:exon61:c.11859+6G>A;NM_017539:exon61:c.11997+6G>A	.	.	ENST00000261383.3,ENSG00000158486.13	.	16p12.3	.	.	.	.	.	rs2301618	.	.	0.0182724	0.0268	0.00678914	7.7e-05	0.00420872	277044	0.02498144	18854	0.01826661	0.01408451	0,0	4.4847	.	.	.	.	.	.	.	.	.	-2.083	-2.295	.	.	.	VDB=0.0176179;SGB=-0.690438;RPB=0.91134;MQB=0.0133551;MQSB=0.762053;BQB=0.595312;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=59;DP4=13,3,22,6;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,126:22:5,17	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:10:.	0/0:.:10:.	0/0:.:30:.	0/1:201,0,219:22:11,11	C	T	0	2	Dynein, axonemal, heavy chain 3, 603334	.	.	.	9256245|11175280	GO_MICROTUBULE_BASED_PROCESS;GO_CELL_MOTILITY;GO_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_MICROTUBULE_BASED_MOVEMENT	GO_MICROTUBULE_CYTOSKELETON;GO_CILIARY_PART;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATALYTIC_COMPLEX;GO_AXONEME_PART;GO_DYNEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ASSOCIATED_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CILIARY_PLASM;GO_CILIUM;GO_AXONEMAL_DYNEIN_COMPLEX	GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_MICROTUBULE_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_HUNTINGTONS_DISEASE	.	.	.	Cilia of fallopian tube showed distinct immunoreactivity. Moreover, cytoplasmic and membranous staining was found in placenta, airways and several glandular epithelia. Remaning normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000158486-DNAH3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 0.8	.	.	.
H-	16	21289661	rs189371585	T	C	222	PASS	CRYM	Crystallin, mu	splicing	NM_001888	NM_001888:exon3:UTR5	.	.	ENST00000219599.7,ENST00000571358.1,ENST00000572914.1,ENSG00000103316.10,ENST00000543948.5,ENST00000576703.5	CpG: 36	16p12.2	.	.	.	.	.	rs189371585	.	.	0.0249169	0.0228	0.00459265	.	0.00161802	30902	0.03101737	1612	0.02720560	0.02728873	0.0010,0	2.6069	.	.	.	.	.	.	.	.	.	0.244	0.003	.	.	.	VDB=0.000239938;SGB=-0.693021;RPB=0.889299;MQB=2.31972e-09;MQSB=0.811022;BQB=0.939049;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=132;DP4=24,26,19,30;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/1:54:255,0,255:27,27	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:45:255,0,255:23,22	T	C	0	2	Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant	.	.	.	12471561|1478656|1384048|16740909|9328354	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_MODIFIED_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ALPHA_AMINO_ACID_CATABOLIC_PROCESS;GO_HORMONE_TRANSPORT;GO_THYROID_HORMONE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CELLULAR_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ASPARTATE_FAMILY_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_SYSTEM_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ASPARTATE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_HORMONE_METABOLIC_PROCESS;GO_LYSINE_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_MICROBODY;GO_MITOCHONDRION;GO_MICROBODY_PART;GO_MICROBODY_LUMEN	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_HORMONE_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_NADP_BINDING;GO_COFACTOR_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;GO_COENZYME_BINDING	.	.	.	.	Cytoplasmic expression in several different tissue types.	http://www.proteinatlas.org/ENSG00000103316-CRYM/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	salivary gland: 7.2	.	.	BS2
H	16	23208605	rs773230579	A	G	154	PASS	SCNN1G	Sodium channel, nonvoltage-gated 1, gamma	exonic	NM_001039	.	missense SNV	SCNN1G:NM_001039:exon6:c.A934G:p.I312V	ENSG00000260741.1,ENST00000563471.1,ENSG00000166828.2,ENST00000300061.2	.	16p12.2	.	.	.	.	.	rs773230579	.	.	.	.	.	.	0.00001804	277132	0.00021200	18868	.	.	.	0.0285	.	0.127,T	0.027,B	0.039,B	0.808602,N	0.000019,N	1.545,L	-0.08,T	7.5196	0.359	0.661	1.591258,13.80	3.11	0.00769434222174	VDB=0.011779;SGB=-0.686358;RPB=0.991767;MQB=8.8427e-05;MQSB=1;BQB=0.898397;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=32;DP4=11,1,14,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:32:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:26:187,0,199:12,14	A	G	0	1	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome, 177200 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive	.	.	.	10074483|11231969|8107805|18507830|16007095|7550319|11244092|11463765|15077107|8617496|8640238|7490094|15755736	GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_EXCRETION;GO_SENSORY_PERCEPTION;GO_CHEMICAL_HOMEOSTASIS;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_SENSORY_PERCEPTION_OF_TASTE;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_SODIUM_ION_HOMEOSTASIS;GO_SYSTEM_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_SODIUM_CHANNEL_COMPLEX;GO_CATION_CHANNEL_COMPLEX;GO_CELL_SURFACE;GO_TRANSPORTER_COMPLEX;GO_SIDE_OF_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_MEMBRANE_REGION	GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_WW_DOMAIN_BINDING;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_SODIUM_CHANNEL_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_TASTE_TRANSDUCTION;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	.	.	.	.	http://www.proteinatlas.org/ENSG00000166828-SCNN1G/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	salivary gland: 8.8	.	.	PM2
H	16	24582874	.	G	A	222	PASS	RBBP6	Retinoblastoma-binding protein-6	exonic	NM_006910,NM_018703	.	missense SNV	RBBP6:NM_018703:exon17:c.G4385A:p.R1462K,RBBP6:NM_006910:exon18:c.G4487A:p.R1496K	ENST00000562430.5,ENST00000381039.7,ENST00000348022.6,ENST00000319715.8,ENSG00000122257.18	.	16p12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.022,B	0.084,B	0.800291,D	0.000015,D	0.975,L	2.02,T	13.7479	2.873	3.827	3.887713,23.5	6.04	0.0056301877501	VDB=0.0319526;SGB=-0.690438;RPB=0.484344;MQB=2.80105e-05;MQSB=0.993714;BQB=0.237641;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=47;DP4=10,9,11,6;MinDP=17;AN=18;AC=1	GT:DP:PL:AD	0/0:17:.:.	0/0:24:.:.	0/0:26:.:.	0/0:31:.:.	0/0:30:.:.	0/0:26:.:.	0/0:22:.:.	0/0:30:.:.	0/1:36:255,0,255:19,17	G	A	0	1	Retinoblastoma-binding protein-6, 600938	.	.	.	17470788|15733535|8595913	GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_PROTEIN_POLYUBIQUITINATION;GO_MULTICELLULAR_ORGANISM_GROWTH;GO_PROTEIN_UBIQUITINATION;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_GROWTH;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_DNA_REPLICATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_SOMITE_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_TISSUE_DEVELOPMENT;GO_PROTEOLYSIS;GO_DEVELOPMENTAL_GROWTH;GO_DNA_METABOLIC_PROCESS	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_NUCLEOLUS;GO_MICROTUBULE_ORGANIZING_CENTER	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000122257-RBBP6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 70.1	nucleus but not nucleoli	.	PM2
H*	16	27215438	rs569547646	G	T	222	PASS	KDM8	.	exonic	NM_001145348	.	missense SNV	KDM8:NM_001145348:exon1:c.G25T:p.G9W	ENST00000564961.1,ENST00000562733.1,ENST00000286096.8,ENST00000569329.1,ENST00000562269.1,ENST00000441782.6,ENSG00000155666.11,ENST00000563881.1	CpG: 82	16p12.1	.	.	.	.	.	rs569547646	.	.	0.00332226	0.002	0.000399361	.	0.00007053	141788	0.00110035	9088	0.00058298	0.00264085	.	.	.	0.0,D	0.966,D	0.997,D	1,N	.	.	1.65,T	2.7959	-0.214	-1.327	4.258034,23.9	.	0.00784118825341	VDB=0.00275436;SGB=-0.693021;RPB=0.769475;MQB=4.78512e-06;MQSB=0.79258;BQB=0.79258;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=75;DP4=13,15,14,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:32:.:.	0/0:31:.:.	0/0:32:.:.	0/0:30:.:.	0/1:55:255,0,255:28,27	G	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Moderate cytoplasmic and nuclear positivity was observed in most normal tissues. Stomach, bronchus, salivary gland, neuronal cells in CNS, cardiomyocytes and subsets of lymphoid cells were strongly stained.	http://www.proteinatlas.org/ENSG00000155666-KDM8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 22.0	nucleus but not nucleoli; cytoplasm	.	PM2
H	16	27499714	rs200237368	C	G	222	PASS	GTF3C1	General transcription factor 3C, polypeptide 1	exonic	NM_001286242,NM_001520	.	missense SNV	GTF3C1:NM_001286242:exon23:c.G3534C:p.W1178C,GTF3C1:NM_001520:exon23:c.G3534C:p.W1178C	ENST00000569653.1,ENSG00000077235.17,ENST00000564664.5,ENST00000561623.5,ENST00000356183.8	.	16p12.1	.	.	.	.	.	rs200237368	.	.	0.0116279	0.0069	0.00139776	.	0.00032501	276912	0.00434598	18868	0.00097163	0.00176367	.	4.6680	.	0.142,T	0.784,P	0.997,D	0.999887,D	0.053515,N	2.135,M	1.92,T	13.243	1.020	3.314	4.763676,24.7	3.93	0.0187969675461	VDB=0.161502;SGB=-0.693147;RPB=0.995413;MQB=7.84195e-23;MQSB=0.127516;BQB=0.964362;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=233;DP4=62,38,39,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:174:255,0,255:100,74	C	G	0	1	General transcription factor 3C, polypeptide 1, 603246	.	.	.	8127861|8164661	GO_TRNA_METABOLIC_PROCESS;GO_RRNA_TRANSCRIPTION;GO_NCRNA_TRANSCRIPTION;GO_NCRNA_METABOLIC_PROCESS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER	GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	.	.	.	.	.	General nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000077235-GTF3C1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 25.8	nucleoli; nucleus	.	.
L	16	28606888	rs1126451	A	G	222	PASS	SULT1A2	Sulfotransferase family 1A, phenol-preferring, member 2	exonic	NM_001054,NM_177528	.	missense SNV	SULT1A2:NM_001054:exon3:c.T257C:p.V86A,SULT1A2:NM_177528:exon3:c.T257C:p.V86A	ENST00000534108.5,ENST00000526384.1,ENSG00000197165.10,ENST00000533150.5,ENST00000335715.8,ENST00000395630.5	.	16p11.2	.	.	Score=774;Name=V$STAT5A_02	Score=0.948296;Name=chr16:28614855	.	rs1126451	.	.	0.0116279	0.0139	0.00299521	.	0.00065301	277176	0.00916994	18866	0.00408084	0.00441696	.	0.3350	P-loop containing nucleoside triphosphate hydrolase;Sulfotransferase domain	0.634,T	0.001,B	0.0,B	1,N	0.390553,N	-0.335,N	-1.5,D	0.7306	-1.014	-3.234	.	.	.	VDB=0.596973;SGB=-0.693147;RPB=0.669665;MQB=2.74131e-20;MQSB=0.935176;BQB=0.738733;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=438;DP4=97,56,123,58;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:151:255,0,255:73,78	0/0:100:.:.	0/0:101:.:.	0/1:183:255,0,255:80,103	A	G	0	2	Sulfotransferase family 1A, phenol-preferring, member 2, 601292	.	.	.	8912648|8661000	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_NUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CATECHOLAMINE_METABOLIC_PROCESS;GO_SULFATION;GO_PURINE_RIBONUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_AMINE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_AMINE_BIOSYNTHETIC_PROCESS	.	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_ARYL_SULFOTRANSFERASE_ACTIVITY;GO_SULFOTRANSFERASE_ACTIVITY	KEGG_SULFUR_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES;REACTOME_PHASE_II_CONJUGATION	High cytoplasmic expression in gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000197165-SULT1A2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	liver: 11.3	.	.	BP4, PM1
L	16	28617222	rs201219890	C	T	194	PASS	SULT1A1	Sulfotransferase family 1A, phenol-preferring, member 1	exonic	NM_001055,NM_177529,NM_177530,NM_177534,NM_177536	.	missense SNV	SULT1A1:NM_177536:exon6:c.G574A:p.V192M,SULT1A1:NM_177534:exon7:c.G808A:p.V270M,SULT1A1:NM_001055:exon8:c.G808A:p.V270M,SULT1A1:NM_177529:exon8:c.G808A:p.V270M,SULT1A1:NM_177530:exon8:c.G808A:p.V270M	ENST00000563493.1,ENSG00000196502.11,ENST00000562058.5,ENST00000395607.5,ENST00000567998.5,ENST00000314752.11,ENST00000395609.5,ENST00000566189.5,ENST00000350842.8,ENST00000569554.5,ENST00000564818.5	.	16p11.2	.	.	.	Score=0.948296;Name=chr16:28602133	.	rs201219890	.	.	.	.	.	.	0.00030576	271458	0.00366182	18570	0.00334635	0.00352113	.	.	P-loop containing nucleoside triphosphate hydrolase;Sulfotransferase domain	0.022,D	0.944,D	0.999,D	0.960805,N	0.000028,D	3.38,M	-1.74,D	10.0843	1.439	4.041	5.809869,27.2	.	0.0280204395121	VDB=0.90936;SGB=-0.691153;RPB=0.393924;MQB=0.968107;MQSB=0.336254;BQB=0.998775;MQ0F=0;ICB=1;HOB=0.5;MQ=40;DP=200;DP4=51,89,12,26;MinDP=12;AN=18;AC=2	GT:DP:PL:AD	0/0:12:.:.	0/0:50:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/1:67:228,0,255:49,18	0/0:28:.:.	0/0:50:.:.	0/1:111:107,0,255:91,20	C	T	0	2	Sulfotransferase family 1A, phenol-preferring, member 1, 171150	.	.	.	3193032|11692076|14871892|9854023|8912648|8288252|12471039|17189289|8661000|7695643|7601475|3162891|9014197|9345314|6964793|6597720|8423770	GO_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_NUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CATECHOLAMINE_METABOLIC_PROCESS;GO_SULFATION;GO_PURINE_RIBONUCLEOSIDE_BISPHOSPHATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_AMINE_METABOLIC_PROCESS;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_FLAVONOID_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_HORMONE_METABOLIC_PROCESS;GO_ESTROGEN_METABOLIC_PROCESS	.	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_ARYL_SULFOTRANSFERASE_ACTIVITY;GO_SULFOTRANSFERASE_ACTIVITY	KEGG_SULFUR_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES;REACTOME_PHASE_II_CONJUGATION	Cytoplasmic expression in a subset of tissues including glandular cells in intestine and hepatocytes in liver.	http://www.proteinatlas.org/ENSG00000196502-SULT1A1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	duodenum: 109.5	.	.	PM1, PM2
H	16	28834717	rs767993566	C	T	168	PASS	ATXN2L	Ataxin 2-like	exonic	NM_001308230,NM_007245,NM_017492,NM_145714,NM_148414,NM_148415,NM_148416	.	missense SNV	ATXN2L:NM_001308230:exon1:c.C137T:p.A46V,ATXN2L:NM_007245:exon1:c.C137T:p.A46V,ATXN2L:NM_017492:exon1:c.C137T:p.A46V,ATXN2L:NM_145714:exon1:c.C137T:p.A46V,ATXN2L:NM_148414:exon1:c.C137T:p.A46V,ATXN2L:NM_148415:exon1:c.C137T:p.A46V,ATXN2L:NM_148416:exon1:c.C137T:p.A46V	ENST00000564304.5,ENST00000570200.5,ENST00000340394.12,ENST00000382686.8,ENST00000395547.6,ENSG00000168488.18,ENST00000563314.5,ENST00000325215.10,ENST00000614819.1,ENST00000336783.8,ENSG00000275807.1	CpG: 200	16p11.2	.	.	Score=822;Name=V$OLF1_01	.	.	rs767993566	.	.	.	.	.	.	0.00006868	72804	0.00064572	4646	0.00100671	.	.	.	.	0.003,D	0.024,B	0.073,B	0.946896,N	0.722620,N	0.55,N	0.81,T	11.4073	2.046	3.010	3.986734,23.6	3.93	0.233885359504	VDB=0.360212;SGB=-0.676189;RPB=0.199346;MQB=0.00489748;MQSB=0.930237;BQB=0.352032;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=40;DP4=10,10,8,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:29:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:31:201,0,255:20,11	C	T	0	1	Ataxin 2-like, 607931	.	.	.	11784712	GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_RIBONUCLEOPROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_ORGANELLE_ASSEMBLY;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_CYTOPLASMIC_STRESS_GRANULE;GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_RIBONUCLEOPROTEIN_GRANULE;GO_NUCLEOPLASM_PART;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000168488-ATXN2L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 110.9	cytoplasm	.	PM2
L	16	46650010	rs753553515	G	A	120	PASS	SHCBP1	SHC SH2 domain-binding protein 1	exonic	NM_001324318,NM_001324319,NM_024745	.	synonymous SNV	SHCBP1:NM_001324318:exon4:c.C330T:p.Y110Y,SHCBP1:NM_001324319:exon4:c.C444T:p.Y148Y,SHCBP1:NM_024745:exon4:c.C444T:p.Y148Y	ENST00000303383.7,ENST00000566016.5,ENSG00000171241.8	.	16q11.2	.	.	.	.	.	rs753553515	.	.	.	.	.	.	0.00007214	277238	0.00105988	18870	.	0.00176056	.	1.3364	.	.	.	.	.	.	.	.	.	0.923	1.766	.	3.13	.	VDB=0.65736;SGB=-0.662043;RPB=0.924478;MQB=0.000246613;MQSB=0.634153;BQB=0.444281;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=30;DP4=5,11,1,8;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:25:153,0,255:16,9	G	A	0	1	SHC SH2 domain-binding protein 1, 611027	.	.	.	10086341	GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR;GO_RESPONSE_TO_GROWTH_FACTOR;GO_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_PROLIFERATION	.	GO_SH2_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	RNA data suggests expression in a selected group of tissues, most abundant in tonsil. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000171241-SHCBP1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 11.8	nucleus; cytoskeleton (microtubules)	.	PM2
H	16	55907857	rs140017746	C	T	222	PASS	CES5A	.	exonic	NM_001143685,NM_001190158,NM_145024	.	missense SNV	CES5A:NM_001143685:exon2:c.G166A:p.V56M,CES5A:NM_145024:exon2:c.G166A:p.V56M,CES5A:NM_001190158:exon3:c.G253A:p.V85M	ENST00000290567.13,ENSG00000159398.15,ENST00000518005.5,ENST00000521992.5,ENST00000541580.5,ENST00000520435.2,ENST00000536025.1,ENST00000521228.6,ENST00000319165.13	.	16q12.2	.	.	.	.	.	rs140017746	.	.	0.0182724	0.0188	0.00379393	0.0008	0.00123679	275714	0.01617710	18792	0.01146522	0.00968310	.	-0.1708	Alpha/Beta hydrolase fold;Carboxylesterase, type B	0.018,D	0.434,B	0.98,D	1,N	0.173457,N	2.72,M	-0.37,T	10.8753	-0.558	0.524	3.193911,22.7	.	.	VDB=0.110476;SGB=-0.692717;RPB=0.419471;MQB=1.95675e-07;MQSB=0.848629;BQB=0.950528;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=56;DP4=7,16,7,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:46:255,0,255:23,23	C	T	0	1	.	.	.	.	.	.	GO_EXTRACELLULAR_SPACE	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	PID_E2F_PATHWAY	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000159398-CES5A/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	testis: 0.3	.	.	PM1
H	16	56913053	rs368455032	G	A	222	PASS	SLC12A3	Solute carrier family 12 (sodium/potassium/chloride transporters), member 3	exonic	NM_000339,NM_001126107,NM_001126108	.	missense SNV	SLC12A3:NM_000339:exon10:c.G1249A:p.E417K,SLC12A3:NM_001126107:exon10:c.G1246A:p.E416K,SLC12A3:NM_001126108:exon10:c.G1249A:p.E417K	ENST00000262502.5,ENST00000566786.5,ENSG00000070915.9,ENST00000563236.5,ENST00000438926.6	.	16q13	.	.	.	.	.	rs368455032	Uncertain significance;Familial_hypokalemia-hypomagnesemia;RCV000366193.1;MedGen:OMIM:Orphanet:SNOMED_CT;C0268450:263800:ORPHA358:3188003	.	0	.	0.000798722	7.7e-05	0.00011805	245666	0.00011612	17224	.	.	.	-0.5540	Amino acid permease/ SLC12A domain	.	0.322,B	0.812,P	0.990894,N	0.018906,N	1.645,L	.	14.853	1.111	3.080	2.121249,16.99	4.15	0.0226695903671	VDB=0.0138042;SGB=-0.692562;RPB=0.459767;MQB=3.09727e-06;MQSB=0.839945;BQB=0.602059;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=57;DP4=16,4,16,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:52:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/0:48:.:.	0/0:50:.:.	0/1:42:255,0,255:20,22	G	A	0	1	Gitelman syndrome, 263800 (3), Autosomal recessive	.	.	.	8670281|8021284|8464884|22009145|8900229|8812482|14766743|17000984|8617496|8528245|8954067|11313351|23833262|20848653	GO_ION_TRANSPORT;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ANION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CHLORIDE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	GO_APICAL_PART_OF_CELL;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CATION_SYMPORTER_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Selective expression in a subset of renal tubules.	http://www.proteinatlas.org/ENSG00000070915-SLC12A3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 0.7	.	.	PM1, PM2, PP2
L	16	57601891	rs115877955	G	A	222	PASS	ADGRG5	Adhesion G protein-coupled receptor G5	exonic	NM_001304376,NM_001318481,NM_153837	.	synonymous SNV	ADGRG5:NM_001304376:exon9:c.G945A:p.T315T,ADGRG5:NM_001318481:exon9:c.G945A:p.T315T,ADGRG5:NM_153837:exon9:c.G945A:p.T315T	ENST00000564607.1,ENST00000394361.8,ENST00000340339.4,ENSG00000159618.15,ENST00000349457.7	.	16q21	.	.	.	.	.	rs115877955	.	.	0.00332226	0.002	0.000399361	.	0.00033577	276974	0.00487546	18870	0.00310921	0.00176367	.	-0.1727	.	.	.	.	.	.	.	.	.	0.207	-0.094	0.985659,10.58	.	.	VDB=0.288889;SGB=-0.69311;RPB=0.999956;MQB=6.32535e-11;MQSB=0.994968;BQB=0.998406;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=116;DP4=37,15,22,9;MinDP=38;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:62:.:.	0/0:68:.:.	0/0:50:.:.	0/0:38:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:83:255,0,255:52,31	G	A	0	1	Adhesion G protein-coupled receptor G5, 616965	.	.	.	25713288|26499266	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7, PM2
H	16	57608887	rs114200545	G	A	222	PASS	ADGRG5	Adhesion G protein-coupled receptor G5	exonic	NM_001304376,NM_001318481,NM_153837	.	missense SNV	ADGRG5:NM_001304376:exon11:c.G1369A:p.V457I,ADGRG5:NM_153837:exon11:c.G1369A:p.V457I	ENST00000569839.1,ENST00000564607.1,ENST00000394361.8,ENST00000340339.4,ENSG00000159618.15,ENST00000349457.7	.	16q21	.	.	Score=682;Name=V$P53_01	.	.	rs114200545	.	.	0.00332226	0.002	0.000399361	.	0.00034069	275912	0.00493055	18862	0.00291489	0.00176678	.	1.7495	GPCR, family 2-like	0.068,T	0.334,B	0.811,P	1,N	0.760706,N	1.5,L	0.98,T	4.3194	0.309	-0.537	.	.	0.00442396007607	VDB=0.162514;SGB=-0.693147;RPB=0.261615;MQB=1.43863e-12;MQSB=0.719545;BQB=0.456987;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=135;DP4=35,16,38,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/1:100:255,0,255:51,49	G	A	0	1	Adhesion G protein-coupled receptor G5, 616965	.	.	.	25713288|26499266	.	.	.	.	.	.	.	.	.	.	.	.	.	PM1, PM2
H	16	67229793	rs764449327	A	ACAG	222	PASS	E2F4	E2F transcription factor 4, p107/p130-binding	exonic	NM_001950	.	nonframeshift insertion	E2F4:NM_001950:exon7:c.917_918insCAG:p.D306delinsDS	ENST00000567228.1,ENST00000569573.1,ENST00000568839.5,ENSG00000205250.8,ENST00000379378.7,ENST00000565226.1,ENST00000567007.5	.	16q22.1	.	.	.	.	.	rs764449327	.	.	.	.	.	0.0188	0.03880304	29508	0.02739726	1606	0.02853152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.480474,14.25	.	.	INDEL;VDB=1.86018e-06;SGB=-0.693146;MQSB=0.976956;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=1437;DP4=470,241,156,134;IDV=61;IMF=0.360947;AN=18;AC=3	GT:PL:DP:AD	0/1:255,0,255,.,.,.:83:40,33,.	0/0:240,.,.:129:103,.	0/0:244,.,.:134:108,.	0/1:255,0,255,.,.,.:128:71,48,.	0/0:178,.,.:116:91,.	0/0:116,.,.:105:90,.	0/0:244,.,.:95:76,.	0/0:132,.,.:95:80,.	0/1:255,0,255,.,.,.:116:52,55,.	ACAG	ACAGCAG,A	0	3	E2F transcription factor 4, p107/p130-binding, 600659	.	.	.	12150994|12110166|11030352|7958924|23222641|10983976|11511364|10983977|7892279	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_CIRCULATORY_SYSTEM_PROCESS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_CELL_PROJECTION_ASSEMBLY;GO_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_CENTRIOLE_ASSEMBLY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_CILIUM_MORPHOGENESIS;GO_G1_DNA_DAMAGE_CHECKPOINT;GO_CILIUM_ORGANIZATION;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_CELL_SIZE;GO_REGULATION_OF_CELL_CYCLE;GO_ORGANELLE_ASSEMBLY;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_SYSTEM_PROCESS;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_MOTILE_CILIUM_ASSEMBLY;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DNA_INTEGRITY_CHECKPOINT;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_CELL_VOLUME_HOMEOSTASIS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_CELLULAR_RESPONSE_TO_STRESS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_TRANSCRIPTION_INVOLVED_IN_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	KEGG_CELL_CYCLE;KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_SMAD2_3NUCLEAR_PATHWAY;PID_E2F_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_ETS_PATHWAY	REACTOME_G0_AND_EARLY_G1;REACTOME_CELL_CYCLE;REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	The majority of normal tissues displayed moderate to strong cytoplasmic and membranous immunoreactivity. Squamous epithelia, testicular cells, myocytes, CNS and lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000205250-E2F4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 52.9	nucleus but not nucleoli	.	BS1, PM4
H-	16	67236802	rs542132503	C	T	222	PASS	ELMO3	Engulfment and cell motility gene 3	exonic	NM_024712	.	missense SNV	ELMO3:NM_024712:exon16:c.C1729T:p.R577W	ENSG00000102890.14,ENST00000360833.5,ENST00000393997.6,ENST00000477898.5	.	16q22.1	.	.	.	.	.	rs542132503	.	.	0.00166113	0.001	0.000199681	.	0.00005071	276084	0.00063640	18856	0.00077791	.	.	-0.2118	Engulfment/cell motility, ELMO;Pleckstrin homology domain;Pleckstrin homology-like domain	0.0,D	0.983,D	1.0,D	1,D	0.000000,D	2.28,M	0.71,T	12.5204	1.366	0.296	6.859282,33	4.72	0.137441054433	VDB=0.00723366;SGB=-0.693147;RPB=0.988184;MQB=2.22322e-14;MQSB=0.98821;BQB=0.497265;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=122;DP4=21,24,25,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:60:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:57:.:.	0/0:101:.:.	0/0:57:.:.	0/1:96:255,0,255:45,51	C	T	0	1	Engulfment and cell motility gene 3, 606422	.	.	.	11595183	GO_CELL_DEATH;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELL_MOTILITY;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ENDOCYTOSIS;GO_PHAGOCYTOSIS	.	GO_SH3_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic positivity. Strong staining was observed in adrenal cortex, urothelia and Leydig cells. Lymphoid tissues and muscle cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000102890-ELMO3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	duodenum: 22.9	plasma membrane; cytoplasm; vesicles; cell junctions	.	PM1, PM2, PP3
H	16	71956593	.	T	TGTGTGG	190	PASS	IST1	Increased sodium tolerance 1, yeast, homolog of	splicing	NM_001270975,NM_001270976,NM_001270977,NM_001270978,NM_001270979,NM_014761	NM_001270975:exon7:c.759+10->GTGTGG;NM_001270976:exon8:c.798+10->GTGTGG;NM_001270977:exon7:c.759+10->GTGTGG;NM_001270978:exon4:c.315+10->GTGTGG;NM_001270979:exon3:c.315+10->GTGTGG;NM_014761:exon7:c.759+10->GTGTGG	.	.	ENST00000378799.10,ENSG00000182149.20,ENST00000537571.1,ENST00000545388.2,ENST00000538850.5,ENST00000541571.6,ENST00000538565.5,ENSG00000261337.1,ENST00000439924.6,ENST00000606369.5,ENST00000567146.1,ENST00000456820.2,ENST00000378798.9,ENST00000329908.12,ENST00000535424.5,ENST00000538709.1,ENST00000536027.1,ENST00000544564.5	.	16q22.2	.	.	Score=925;Name=V$NKX3A_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=2.14244e-09;SGB=-0.693147;MQSB=0.731404;MQ0F=0;MQ=48;DP=194;DP4=0,0,63,108;IDV=2;IMF=0.0103093;MinDP=13;AN=10;AC=1	GT:DP:PL:AD	0/0:52:.:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	0/0:13:.:.	./.:.:.:.	0/0:62:.:.	0/0:100:.:.	1/2:171:255,255,174,255,.,255:0,139,32	TATAA	TGTGTGGATAA,T	0	1	Increased sodium tolerance 1, yeast, homolog of, 616434	.	.	.	19129480|19129479|26634441|8724849|20719964	GO_REGULATION_OF_COLLATERAL_SPROUTING;GO_ENDOSOME_ORGANIZATION;GO_CELL_DIVISION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_XENOPHAGY;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_MACROAUTOPHAGY;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MACROMOLECULAR_COMPLEX_DISASSEMBLY;GO_AUTOPHAGY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_MULTIVESICULAR_BODY_ORGANIZATION;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_SIZE;GO_ORGANELLE_ASSEMBLY;GO_VIRAL_LIFE_CYCLE;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GROWTH;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_VACUOLE_ORGANIZATION;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_CYTOKINESIS;GO_MACROMITOPHAGY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_AXONOGENESIS;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_ORGANELLE_DISASSEMBLY;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_MIDBODY;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_MICROTUBULE_ORGANIZING_CENTER	GO_PROTEIN_COMPLEX_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression often with a granular pattern.	http://www.proteinatlas.org/ENSG00000182149-IST1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 47.1	vesicles	.	PM2
H	16	71988058	rs558328073	T	C	222	PASS	PKD1L3	Polycystin 1-like 3	exonic	NM_181536	.	unknown	UNKNOWN	ENSG00000277481.1,ENST00000620267.1	.	16q22.2	.	.	Score=873;Name=V$FOXJ2_02	.	.	rs558328073	.	.	0.00166113	0.001	0.000199681	.	0.00015336	182574	0.00239521	11690	0.00159872	0.00142450	.	0.9814	.	.	.	.	.	.	.	.	.	0.778	1.601	.	3.94	.	VDB=0.257717;SGB=-0.692717;RPB=0.712226;MQB=8.92213e-06;MQSB=0.624209;BQB=0.875228;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=193;DP4=58,17,44,15;MinDP=50;AN=16;AC=2	GT:PL:DP:AD	0/1:255,0,255:46:23,23	./.:.:.:.	0/0:.:55:.	0/0:.:51:.	0/0:.:51:.	0/0:.:50:.	0/0:.:50:.	0/0:.:58:.	0/1:255,0,255:88:52,36	T	C	0	2	Polycystin 1-like 3, 607895	.	.	.	16891422|12782129	GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_METAL_ION_TRANSPORT;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_CATION_TRANSPORT;GO_DETECTION_OF_MECHANICAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE;GO_SENSORY_PERCEPTION_OF_TASTE;GO_CALCIUM_ION_TRANSPORT;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_PH;GO_CELLULAR_RESPONSE_TO_PH;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_DETECTION_OF_STIMULUS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_ACIDIC_PH;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_CATION_CHANNEL_COMPLEX;GO_CELL_SURFACE;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CARBOHYDRATE_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TASTE_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000277481-PKD1L3/tissue	FPKM<0.5 in all tissues <Not detected>	testis: 0.2	.	.	PM2
L*	16	72057421	rs61733129	C	T	222	PASS	DHODH	Dihydroorotate dehydrogenase	exonic	NM_001361	.	missense SNV	DHODH:NM_001361:exon8:c.C1022T:p.A341V	ENST00000574309.5,ENSG00000102967.11,ENST00000571392.1,ENST00000219240.8,ENST00000572887.5	.	16q22.2	.	.	.	.	.	rs61733129	other|Likely benign;not_specified|Miller_syndrome;RCV000116874.3|RCV000394797.1;MedGen|MedGen:OMIM:SNOMED_CT;CN169374|C0265257:263750:66038001	.	0.0481728	0.0446	0.0233626	0.0201	0.02730954	277046	0.05183379	18868	0.04663817	0.04841549	.	0.0892	Aldolase-type TIM barrel;Dihydroorotate dehydrogenase, conserved site	0.043,D	0.93,D	1.0,D	1,D	0.000000,D	2.915,M	-3.7,D	14.5318	1.456	7.461	7.376986,34	4.53	.	VDB=0.611175;SGB=-0.686358;RPB=0.88764;MQB=4.78512e-06;MQSB=0.99335;BQB=0.814934;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=87;DP4=23,17,20,16;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:22:.:.	0/1:35:255,0,255:21,14	0/0:27:.:.	0/0:30:.:.	0/0:32:.:.	0/0:11:.:.	0/0:11:.:.	0/0:10:.:.	0/1:41:255,0,255:19,22	C	T	0	2	Miller syndrome, 263750 (3), Autosomal recessive	.	.	.	8211381|27626380|1446837|19915526|20220176|21430780	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_PYRIMIDINE_NUCLEOTIDE_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_PYRIMIDINE_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOBASE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_SECRETION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ALKALOID;GO_NUCLEOBASE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_MITOCHONDRIAL_FISSION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_MAMMARY_GLAND_DEVELOPMENT;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_RESPONSE_TO_CAFFEINE;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NUCLEOSIDE_MONOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_RESPONSE_TO_DRUG;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_BODY_FLUID_SECRETION;GO_REGULATION_OF_CELL_DEATH;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_METABOLIC_PROCESS;GO_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_GLYCOSYL_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_PYRIMIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS;GO_LACTATION;GO_NUCLEOBASE_BIOSYNTHETIC_PROCESS	GO_NEURON_PART;GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_CELL_BODY;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS;GO_QUINONE_BINDING;GO_FMN_BINDING;GO_DRUG_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	Ubiquitous cytoplasmic expression in most tissues at variable levels, often with a granular pattern. Highest expression in glandular epithelia, endocrine tissues and in lymphoid tissues.	http://www.proteinatlas.org/ENSG00000102967-DHODH/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 17.6	nucleus but not nucleoli; mitochondria	.	BS1, BP6, PP2, PP3
H	16	75150542	rs145496919	G	A	222	PASS	LDHD	D-lactate dehydrogenase	splicing	NM_153486,NM_194436	NM_153486:exon1:c.72+5C>T;NM_194436:exon1:c.72+5C>T	.	.	ENST00000569876.1,ENSG00000166816.13,ENST00000300051.8,ENST00000450168.2	.	16q23.1	.	.	.	.	.	rs145496919	.	.	0.0215947	0.0198	0.00399361	.	0.00132956	269262	0.01870975	18012	0.02001555	0.01760563	0.0001,0.006	.	.	.	.	.	.	.	.	.	.	0.161	-0.945	.	.	.	VDB=0.0488192;SGB=-0.693147;RPB=0.69635;MQB=3.49923e-35;MQSB=0.776058;BQB=0.809348;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=407;DP4=123,53,87,32;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/1:295:255,0,255:176,119	G	A	0	1	D-lactate dehydrogenase, 607490	.	.	.	12127981	GO_OXIDATION_REDUCTION_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;GO_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_COENZYME_BINDING	KEGG_PYRUVATE_METABOLISM	.	.	REACTOME_MITOCHONDRIAL_PROTEIN_IMPORT;REACTOME_METABOLISM_OF_PROTEINS	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000166816-LDHD/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	kidney: 34.1	cytoplasm	.	.
H	16	75646460	rs3743600	T	G	222	PASS	ADAT1	Adenosine deaminase, tRNA-specific, 1	exonic	NM_001324444,NM_001324445,NM_001324446,NM_001324448,NM_001324449,NM_001324450,NM_001324451,NM_001324452,NM_001324453,NM_012091	.	missense SNV	ADAT1:NM_001324452:exon5:c.A463C:p.T155P,ADAT1:NM_001324453:exon5:c.A463C:p.T155P,ADAT1:NM_001324445:exon6:c.A724C:p.T242P,ADAT1:NM_001324449:exon6:c.A724C:p.T242P,ADAT1:NM_001324451:exon6:c.A277C:p.T93P,ADAT1:NM_001324444:exon7:c.A277C:p.T93P,ADAT1:NM_001324446:exon7:c.A277C:p.T93P,ADAT1:NM_001324448:exon7:c.A724C:p.T242P,ADAT1:NM_001324450:exon7:c.A277C:p.T93P,ADAT1:NM_012091:exon7:c.A724C:p.T242P	ENST00000307921.7,ENST00000566445.5,ENSG00000065457.10	.	16q23.1	.	.	.	.	.	rs3743600	.	.	0.0249169	0.0208	0.00459265	0.0005	0.00313499	277194	0.03900371	18870	0.03672756	0.03521127	.	-0.0233	Adenosine deaminase/editase	0.158,T	0.212,B	0.583,P	1,N	0.000000,N	2.42,M	2.49,T	5.4868	-3.158	-6.822	.	.	.	VDB=0.00290517;SGB=-0.693147;RPB=0.412316;MQB=1.23448e-15;MQSB=0.884128;BQB=0.8149;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=341;DP4=82,63,69,40;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:127:255,0,255:75,52	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/1:127:255,0,255:70,56	T	G	0	2	Adenosine deaminase, tRNA-specific, 1, 604230	.	.	.	9707437|10430867|11331948|10675613|16141067	GO_TRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_PROCESSING	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES;GO_ADENOSINE_DEAMINASE_ACTIVITY;GO_DEAMINASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_RNA_BINDING	.	.	.	.	cytoplasmic expression of immune cells.	http://www.proteinatlas.org/ENSG00000065457-ADAT1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 21.3	nucleus; golgi apparatus; vesicles	.	BS1, PM1
H	16	76528972	rs757450154	C	T	65	PASS	CNTNAP4	Contactin-associated protein-like 4	splicing	NM_001322178,NM_001322179,NM_001322180,NM_001322181,NM_001322187,NM_001322188,NM_001322189,NM_001322190,NM_001322191,NM_033401,NM_138994	NM_001322178:exon14:c.2086+9C>T;NM_001322179:exon15:c.2236+9C>T;NM_001322180:exon13:c.1850+9C>T;NM_001322181:exon15:c.2233+9C>T;NM_001322187:exon15:c.821+9C>T;NM_001322188:exon15:c.2236+9C>T;NM_001322189:exon15:c.1973+9C>T;NM_001322190:exon14:c.2092+9C>T;NM_001322191:exon13:c.1310+9C>T;NM_033401:exon15:c.2236+9C>T;NM_138994:exon13:c.2018+9C>T	.	.	ENST00000307431.12,ENST00000377504.8,ENST00000476707.1,ENST00000471618.5,ENST00000478060.5,ENSG00000152910.18,ENST00000622250.4,ENST00000611870.4	.	16q23.1	.	.	.	.	.	rs757450154	.	.	.	.	.	.	0.00004890	245382	0.00063909	17212	0.00045767	0.00088028	.	-0.4709	.	.	.	.	.	.	.	.	.	0.364	-0.333	.	.	.	VDB=0.585652;SGB=-0.556411;RPB=0.594978;MQB=0.0249144;MQSB=0.2;BQB=0.310905;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=14;DP4=0,8,2,2;MinDP=8;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:11:.:.	0/0:18:.:.	0/0:19:.:.	0/0:14:.:.	0/0:10:.:.	0/0:8:.:.	0/0:17:.:.	0/1:12:98,0,140:8,4	C	T	0	1	Contactin-associated protein-like 4, 610518	.	.	.	24870235|11214970|12093160|16845472	GO_REGULATION_OF_BEHAVIOR;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GABAERGIC;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_DOPAMINERGIC	GO_NEURON_PART;GO_CELL_JUNCTION;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	.	.	.	.	.	Selective cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000152910-CNTNAP4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.8	.	.	PM2
H	16	76555216	rs149415686	C	G	222	PASS	CNTNAP4	Contactin-associated protein-like 4	splicing	NM_001322178,NM_001322179,NM_001322180,NM_001322181,NM_001322187,NM_001322188,NM_001322189,NM_001322190,NM_001322191,NM_033401,NM_138994	NM_001322178:exon16:c.2385+9C>G;NM_001322179:exon17:c.2535+9C>G;NM_001322180:exon15:c.2149+9C>G;NM_001322181:exon17:c.2532+9C>G;NM_001322187:exon17:c.1120+9C>G;NM_001322188:exon17:c.2535+9C>G;NM_001322189:exon17:c.2272+9C>G;NM_001322190:exon16:c.2391+9C>G;NM_001322191:exon15:c.1609+9C>G;NM_033401:exon17:c.2535+9C>G;NM_138994:exon15:c.2317+9C>G	.	.	ENST00000307431.12,ENST00000377504.8,ENST00000476707.1,ENST00000478060.5,ENSG00000152910.18,ENST00000622250.4,ENST00000611870.4	.	16q23.1	.	.	.	.	.	rs149415686	.	.	0	.	0.00738818	0.0070	0.00213786	259606	0.00084707	17708	0.00058298	0.00088028	.	-0.8612	.	.	.	.	.	.	.	.	.	-0.613	-0.687	1.409405,12.84	.	.	VDB=0.0168168;SGB=-0.693054;RPB=0.984649;MQB=3.14192e-07;MQSB=0.801353;BQB=0.957938;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=64;DP4=7,15,9,19;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:50:255,0,255:22,28	C	G	0	1	Contactin-associated protein-like 4, 610518	.	.	.	24870235|11214970|12093160|16845472	GO_REGULATION_OF_BEHAVIOR;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GABAERGIC;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_DOPAMINERGIC	GO_NEURON_PART;GO_CELL_JUNCTION;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	.	.	.	.	.	Selective cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000152910-CNTNAP4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.8	.	.	.
H	16	76555990	rs775109304	C	T	222	PASS	CNTNAP4	Contactin-associated protein-like 4	exonic	NM_001322178,NM_001322179,NM_001322180,NM_001322181,NM_001322187,NM_001322188,NM_001322189,NM_001322190,NM_001322191,NM_033401,NM_138994	.	missense SNV	CNTNAP4:NM_001322180:exon16:c.C2204T:p.S735L,CNTNAP4:NM_001322191:exon16:c.C1664T:p.S555L,CNTNAP4:NM_138994:exon16:c.C2372T:p.S791L,CNTNAP4:NM_001322187:exon18:c.C1175T:p.S392L,CNTNAP4:NM_001322189:exon18:c.C2327T:p.S776L	ENST00000307431.12,ENST00000377504.8,ENST00000476707.1,ENST00000478060.5,ENSG00000152910.18,ENST00000622250.4,ENST00000611870.4	.	16q23.1	.	.	Score=851;Name=V$CHOP_01	.	.	rs775109304	.	.	.	.	.	.	0.00005808	275498	0.00084809	18866	0.00058298	0.00088028	.	0.5863	Concanavalin A-like lectin/glucanase domain;Laminin G domain	0.261,T	0.062,B	0.045,B	1,N	0.206073,N	.	0.92,T	5.4904	2.678	0.539	2.803055,21.4	3.91	0.00670100111544	VDB=0.650888;SGB=-0.693079;RPB=0.17427;MQB=6.23653e-10;MQSB=0.909689;BQB=0.66099;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=76;DP4=18,15,18,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/1:62:255,0,255:33,29	C	T	0	1	Contactin-associated protein-like 4, 610518	.	.	.	24870235|11214970|12093160|16845472	GO_REGULATION_OF_BEHAVIOR;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_GABAERGIC;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_BIOLOGICAL_ADHESION;GO_REGULATION_OF_SYNAPTIC_TRANSMISSION_DOPAMINERGIC	GO_NEURON_PART;GO_CELL_JUNCTION;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	.	.	.	.	.	Selective cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000152910-CNTNAP4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.8	.	.	PM1, PM2
H	16	81095343	rs557650910	G	C	222	PASS	C16orf46	.	exonic	NM_001100873,NM_152337	.	missense SNV	C16orf46:NM_001100873:exon3:c.C611G:p.T204S,C16orf46:NM_152337:exon4:c.C611G:p.T204S	ENST00000299578.9,ENST00000640370.1,ENST00000444657.3,ENST00000638192.1,ENSG00000284512.1,ENST00000564536.2,ENST00000378611.8,ENSG00000166455.13,ENST00000640345.1,ENSG00000260643.2,ENST00000638948.1	.	16q23.2	.	.	.	.	.	rs557650910	.	.	0.00166113	0.001	0.000199681	.	0.00002034	245866	0.00028996	17244	0.00019433	.	.	-0.4525	.	0.134,T	0.73,P	0.973,D	1,N	0.027372,N	1.935,L	2.53,T	9.7963	1.433	0.409	.	4.85	0.0042203776389	VDB=0.0551462;SGB=-0.693147;RPB=0.889145;MQB=0.0158575;MQSB=0.47359;BQB=0.362467;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=224;DP4=65,22,46,37;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:125:.:.	0/1:170:255,0,255:87,83	G	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000166455-C16orf46/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 4.8	nucleus; cytoplasm	.	PM2
H-	16	81224265	rs145720841	C	G	222	PASS	PKD1L2	Polycystin 1-like 2	splicing	NM_001076780,NM_052892	NM_001076780:exon9:c.1671+5G>C;NM_052892:exon9:c.1671+5G>C	.	.	ENST00000526632.5,ENST00000337114.8,ENSG00000166473.17,ENST00000525539.5	.	16q23.2	.	.	.	.	.	rs145720841	.	.	0.0166113	0.0099	0.00199681	.	0.00132443	276346	0.01927172	18784	0.01768364	0.01144366	1.0000,0.972	-5.5509	.	.	.	.	.	.	.	.	.	2.343	2.761	2.161120,17.25	4.19	.	VDB=0.448738;SGB=-0.691153;RPB=0.993186;MQB=0.000292086;MQSB=0.964585;BQB=0.870697;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=114;DP4=38,9,41,9;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:31:.:.	0/0:30:.:.	0/0:52:.:.	0/1:38:246,0,255:20,18	0/0:51:.:.	0/0:52:.:.	0/0:32:.:.	0/0:40:.:.	0/1:59:255,0,255:27,32	C	G	0	2	Polycystin 1-like 2, 607894	.	.	.	12782129|19578180|11572484|15203210	GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_CATION_TRANSPORT;GO_DETECTION_OF_MECHANICAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_DETECTION_OF_STIMULUS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	.	GO_CARBOHYDRATE_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	.	.	.	.	.	.	PP3
L	16	82132040	rs8191246	A	G	222	PASS	HSD17B2	Hydroxysteroid (17-beta) dehydrogenase 2	exonic	NM_002153	.	stoploss	HSD17B2:NM_002153:exon5:c.A1163G:p.X388W	ENST00000567021.1,ENST00000199936.8,ENST00000566838.2,ENSG00000086696.10,ENSG00000261235.1	.	16q23.3	.	.	.	.	.	rs8191246	.	.	0.0564784	0.0655	0.0403355	0.0193	0.01331999	256832	0.04633823	18106	0.02662262	0.02464789	.	.	.	.	.	.	1,N	.	.	.	2.3299	-0.019	0.250	1.008180,10.71	.	.	VDB=0.0828123;SGB=-0.692831;RPB=0.765464;MQB=6.8256e-08;MQSB=0.918635;BQB=0.952095;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=66;DP4=11,19,9,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:47:.:.	0/0:30:.:.	0/0:50:.:.	0/1:54:255,0,255:30,24	A	G	0	1	Hydroxysteroid (17-beta) dehydrogenase 2, 109685	.	.	.	7962560|7759109|10199776|10999824|11061520|8099587	GO_STEROID_BIOSYNTHETIC_PROCESS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_RESPONSE_TO_ACID_CHEMICAL;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_OXIDATION_REDUCTION_PROCESS;GO_RESPONSE_TO_LIPID;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_RESPONSE_TO_RETINOIC_ACID;GO_PLACENTA_DEVELOPMENT;GO_REPRODUCTION	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_STEROID_DEHYDROGENASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_ESTRADIOL_17_BETA_DEHYDROGENASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	.	Cytoplasmic and membranous expression, most abundant in intestine and placental endothelial cells.	http://www.proteinatlas.org/ENSG00000086696-HSD17B2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 139.3	.	.	BS1, BS2, PM4
H	16	84229309	rs191155110	C	G	222	PASS	ADAD2	.	splicing	NM_001145400,NM_139174	NM_001145400:exon6:c.1052+6C>G;NM_139174:exon7:c.1298+6C>G	.	.	ENST00000566526.5,ENST00000564430.1,ENST00000565643.5,ENST00000315906.9,ENST00000569834.1,ENSG00000250685.7,ENST00000268624.7,ENSG00000140955.10,ENST00000536986.5,ENST00000567685.1	.	16q24.1	.	.	.	.	.	rs191155110	.	.	0.0548173	0.0397	0.00798722	0.0003	0.00350129	213350	0.04142012	16900	0.04665630	0.04092527	0.0007,0.076	0.3385	.	.	.	.	.	.	.	.	.	0.357	0.146	.	.	.	VDB=0.0966747;SGB=-0.693147;RPB=0.240407;MQB=3.85902e-20;MQSB=0.376407;BQB=0.943334;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=369;DP4=54,67,82,87;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:57:.:.	0/0:100:.:.	0/1:149:255,0,255:59,90	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/1:141:255,0,255:62,79	C	G	0	2	.	.	.	.	.	GO_RNA_PROCESSING	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES;GO_ADENOSINE_DEAMINASE_ACTIVITY;GO_DEAMINASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_RNA_BINDING	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000140955-ADAD2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 0.2	.	.	BS1
L	16	85743846	rs189450880	G	A	222	PASS	C16orf74	.	exonic	NM_206967	.	synonymous SNV	C16orf74:NM_206967:exon3:c.C96T:p.H32H	ENST00000602914.1,ENST00000602719.5,ENST00000602766.1,ENST00000602583.5,ENST00000602758.1,ENST00000602675.5,ENST00000284245.8,ENSG00000154102.10	CpG: 47	16q24.1	.	.	Score=810;Name=V$HMX1_01	.	.	rs189450880	.	.	0.0116279	0.0089	0.00179712	.	0.00042580	164396	0.00850134	8234	0.00777303	0.00529101	.	0.7789	.	.	.	.	.	.	.	.	.	2.233	2.372	.	3.79	.	VDB=0.0366589;SGB=-0.692976;RPB=0.656494;MQB=8.3563e-05;MQSB=0.768349;BQB=0.971917;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=86;DP4=28,6,21,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:60:255,0,255:34,26	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000154102-C16orf74/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	urinary bladder: 10.8	plasma membrane; centrosome	.	.
H	16	86601545	rs550350665	G	A	222	PASS	FOXC2	Forkhead box C2	exonic	NM_005251	.	missense SNV	FOXC2:NM_005251:exon1:c.G604A:p.D202N	ENST00000320354.5,ENSG00000176692.5	CpG: 283	16q24.1	.	.	.	.	.	rs550350665	.	.	0.00166113	0.001	0.000199681	.	0.00017514	216970	0.00231279	15998	0.00213758	0.00352734	.	.	.	0.104,T	0.006,B	0.008,B	0.999999,N	0.327409,U	0.345,N	-3.56,D	7.8645	2.071	3.198	1.656326,14.16	3.56	0.87694881854	VDB=0.0214216;SGB=-0.693147;RPB=0.522189;MQB=8.95977e-16;MQSB=0.929389;BQB=0.833718;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=169;DP4=35,43,24,31;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:133:255,0,255:78,55	G	A	0	1	Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant	.	.	.	12485195|11499682|16081467|12114478|11551504|11694548|14269895|11078474|11371511|9409679|8674414|12716768|12719382|11562355|10417285|17537911|17372167|9169153|8325367|15744037|12540636|18197197|12453913|15906099|10767326|19500772|9106663|15523639	GO_CARDIAC_CHAMBER_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_METANEPHROS_DEVELOPMENT;GO_REGULATION_OF_WOUND_HEALING;GO_COLLAGEN_FIBRIL_ORGANIZATION;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CARDIAC_CHAMBER_MORPHOGENESIS;GO_RESPONSE_TO_PEPTIDE;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_TISSUE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_ARTERY_DEVELOPMENT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_MUSCLE_CELL_PROLIFERATION;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_EMBRYONIC_VISCEROCRANIUM_MORPHOGENESIS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_PATTERNING_OF_BLOOD_VESSELS;GO_EMBRYONIC_HEART_TUBE_DEVELOPMENT;GO_ARTERY_MORPHOGENESIS;GO_VENTRICULAR_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_HEART_MORPHOGENESIS;GO_RESPONSE_TO_INSULIN;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_LYMPHANGIOGENESIS;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ORGAN_GROWTH;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS;GO_HEART_MORPHOGENESIS;GO_CELL_PROLIFERATION;GO_RESPONSE_TO_HORMONE;GO_SOMITOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_CARDIAC_VENTRICLE_MORPHOGENESIS;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_CELL_ADHESION_MEDIATED_BY_INTEGRIN;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_GLOMERULUS_DEVELOPMENT;GO_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS;GO_MUSCLE_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_ADHESION_MEDIATED_BY_INTEGRIN;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ENDOTHELIUM_DEVELOPMENT;GO_ORGAN_GROWTH;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SEGMENTATION;GO_GASTRULATION;GO_NOTCH_SIGNALING_PATHWAY;GO_HEART_DEVELOPMENT;GO_MESODERM_MORPHOGENESIS;GO_TUBE_DEVELOPMENT;GO_CARDIAC_VENTRICLE_DEVELOPMENT;GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_GROWTH;GO_EMBRYONIC_MORPHOGENESIS;GO_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT;GO_SYSTEM_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_BLOOD_VESSEL_REMODELING;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_TISSUE_REMODELING;GO_OSSIFICATION;GO_MESODERMAL_CELL_DIFFERENTIATION;GO_LYMPH_VESSEL_MORPHOGENESIS;GO_GLOMERULAR_EPITHELIUM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_WOUND_HEALING;GO_CELL_FATE_COMMITMENT;GO_RENAL_SYSTEM_VASCULATURE_DEVELOPMENT;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_STRIATED_MUSCLE_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_EYE_DEVELOPMENT;GO_REGULATION_OF_CELL_DEATH;GO_MESENCHYME_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PARAXIAL_MESODERM_DEVELOPMENT;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_TUBE_MORPHOGENESIS;GO_SENSORY_ORGAN_DEVELOPMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_STEM_CELL_DIFFERENTIATION;GO_HEART_GROWTH;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_LYMPH_VESSEL_DEVELOPMENT;GO_REGULATION_OF_SPROUTING_ANGIOGENESIS;GO_NEPHRON_DEVELOPMENT;GO_MESODERM_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_MESENCHYME_MORPHOGENESIS;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_SOMITE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_MESONEPHROS_DEVELOPMENT;GO_MESODERMAL_CELL_FATE_COMMITMENT;GO_REGIONALIZATION;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_TISSUE_DEVELOPMENT;GO_NEURAL_CREST_CELL_DIFFERENTIATION;GO_DEVELOPMENTAL_GROWTH;GO_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM;GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CHROMATIN_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000176692-FOXC2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	kidney: 2.4	.	.	BS2
H	16	87339436	.	T	C	222	PASS	C16orf95	.	exonic	NM_001195124,NM_001195125,NM_001256917	.	missense SNV	C16orf95:NM_001195125:exon4:c.A406G:p.S136G,C16orf95:NM_001256917:exon4:c.A361G:p.S121G,C16orf95:NM_001195124:exon6:c.A590G:p.Q197R	ENST00000567970.1,ENST00000618367.4,ENST00000568879.1,ENSG00000260456.6,ENSG00000131152.4,ENST00000253461.8,ENST00000565212.5	.	16q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	1.1700	.	0.0,D	0.019,B	0.046,B	.	0.108665,N	0.55,N	.	2.496	0.080	1.069	2.364508,18.59	.	0.0140551223499	VDB=0.273667;SGB=-0.693144;RPB=0.992254;MQB=5.26571e-10;MQSB=0.985479;BQB=0.825989;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=103;DP4=26,11,30,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:76:255,0,255:37,39	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Nuclear and nucleolar expression in spermatids and spermatocytes.	http://www.proteinatlas.org/ENSG00000260456-C16orf95/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 1.5	.	.	PM2
H	16	87451283	rs77379365	G	A	171	PASS	ZCCHC14	.	exonic	NM_015144	.	missense SNV	ZCCHC14:NM_015144:exon8:c.C755T:p.P252L	ENST00000568020.5,ENST00000565193.1,ENST00000561928.1,ENSG00000140948.11,ENST00000268616.8	.	16q24.2	.	.	.	.	.	rs77379365	.	.	0.0465116	0.0387	0.00938498	.	0.00336650	272390	0.04376672	18690	0.03888025	0.03968254	.	-0.0788	.	0.011,D	0.056,B	0.826,P	1,N	0.823329,N	0,N	2.27,T	13.233	1.582	4.289	1.697009,14.39	4.82	.	VDB=0.123546;SGB=-0.680642;RPB=0.691561;MQB=4.86415e-05;MQSB=0.998203;BQB=0.821692;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=10,27,5,19;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:28:196,0,253:16,12	0/0:31:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:33:204,0,255:21,12	G	A	0	2	.	.	.	.	.	.	.	GO_PHOSPHATIDYLINOSITOL_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Strong membranous positivity was observed in the gastrointestinal tract while smooth muscle and skeletal muscle cells showed strong cytoplasmic staining. All other normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000140948-ZCCHC14/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 31.8	.	.	BS1
H	16	88497992	rs368674617	G	A	222	PASS	ZNF469	Zinc finger protein 469	exonic	NM_001127464	.	missense SNV	ZNF469:NM_001127464:exon2:c.G4030A:p.G1344R	ENST00000437464.1,ENST00000565624.1,ENSG00000225614.2	.	16q24.2	.	.	Score=827;Name=V$SRF_Q6	.	.	rs368674617	.	.	0.00166113	0.001	0.000399361	.	0.00003343	179470	0.00042173	11856	0.00038865	.	.	.	.	0.0,D	0.941,D	0.997,D	1,N	.	0.895,L	2.94,T	9.0816	2.185	1.443	4.287725,24.0	4.75	0.440846235859	VDB=0.914716;SGB=-0.693147;RPB=0.789259;MQB=0.279654;MQSB=0.715692;BQB=0.179643;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=220;DP4=52,37,50,30;MinDP=121;AN=18;AC=1	GT:DP:PL:AD	0/0:121:.:.	0/0:167:.:.	0/0:191:.:.	0/0:140:.:.	0/0:122:.:.	0/0:124:.:.	0/0:139:.:.	0/0:139:.:.	0/1:169:255,0,255:89,80	G	A	0	1	Brittle cornea syndrome 1, 229200 (3), Autosomal recessive	.	.	.	18452888|5755738|21664999|19661234|20938016|11347906|7387950	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000225614-ZNF469/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 1.1	vesicles	.	BS2
H	16	88498016	rs778886933	C	T	222	PASS	ZNF469	Zinc finger protein 469	exonic	NM_001127464	.	missense SNV	ZNF469:NM_001127464:exon2:c.C4054T:p.H1352Y	ENST00000437464.1,ENST00000565624.1,ENSG00000225614.2	.	16q24.2	.	.	.	.	.	rs778886933	.	.	.	.	.	.	0.00001671	179528	0.00025299	11858	0.00019433	.	.	.	.	0.175,T	0.246,B	0.871,P	1,N	.	0.345,N	3.39,T	2.0803	0.054	-0.185	.	.	0.292351308591	VDB=0.921162;SGB=-0.693147;RPB=0.224388;MQB=0.0859257;MQSB=0.944872;BQB=0.94541;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=235;DP4=56,29,60,34;MinDP=121;AN=18;AC=1	GT:DP:PL:AD	0/0:121:.:.	0/0:167:.:.	0/0:191:.:.	0/0:140:.:.	0/0:122:.:.	0/0:124:.:.	0/0:139:.:.	0/0:139:.:.	0/1:179:255,0,255:85,93	C	T	0	1	Brittle cornea syndrome 1, 229200 (3), Autosomal recessive	.	.	.	18452888|5755738|21664999|19661234|20938016|11347906|7387950	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000225614-ZNF469/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 1.1	vesicles	.	.
L	16	88780641	rs755110952	GGTGTGT	G	228	PASS	CTU2	.	splicing	NM_001012759,NM_001012762,NM_001318507,NM_001318513	.	.	.	ENST00000566637.5,ENST00000564105.5,ENSG00000174177.12,ENST00000453996.6,ENST00000312060.9,ENST00000564584.1,ENST00000567949.5	.	16q24.3	.	.	.	.	Score=265;Name="1801983:(TG)n(Simple_repeat)"	rs755110952	.	.	.	.	.	.	0.00024769	12112	.	.	0.05200803	0.03654485	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.249144,2.801	.	.	INDEL;VDB=0.00221281;SGB=-0.693147;MQSB=0.992143;MQ0F=0;MQ=46;ICB=1;HOB=0.5;DP=464;DP4=31,42,148,156;IDV=2;IMF=0.0149254;MinDP=5;AN=18;AC=5	GT:DP:PL:AD	0/0:5:.:.	0/0:6:.:.	1/1:117:255,255,0:1,116	0/1:150:255,0,255:71,79	0/0:44:.:.	0/0:13:.:.	0/0:5:.:.	0/0:6:.:.	1/1:110:255,255,0:1,109	GGTGTGT	G	2	1	.	.	.	.	.	GO_TRNA_METABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_PROCESSING;GO_TRNA_MODIFICATION	GO_MITOCHONDRION	GO_TRNA_BINDING;GO_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_NUCLEOTIDYLTRANSFERASE_ACTIVITY	.	.	.	.	Selective granular cytoplasmic expression in seminiferus ducts, renal tubules and glandular cells of epididymis and gall bladder.	http://www.proteinatlas.org/ENSG00000174177-CTU2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 5.7	cytoplasm; mitochondria	.	BS1
H	16	88802648	rs59550107	G	C	222	PASS	PIEZO1	PIEZO1 ion channel	exonic	NM_001142864	.	missense SNV	PIEZO1:NM_001142864:exon12:c.C1465G:p.R489G	ENSG00000224888.4,ENST00000440406.2,ENSG00000103335.21,ENST00000301015.13	.	16q24.3	.	.	.	.	.	rs59550107	.	.	0.0215947	0.0288	0.00599042	.	0.00203906	178514	0.02929259	11846	0.01730171	0.01855124	.	-0.1142	.	0.2,T	0.001,B	0.006,B	0.999972,N	0.392002,N	1.5,L	-1.93,D	3.2834	1.100	0.666	1.881542,15.48	2.44	.	VDB=0.620288;SGB=-0.693147;RPB=0.635146;MQB=5.51223e-09;MQSB=0.897442;BQB=0.822441;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=123;DP4=39,9,37,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:95:255,0,255:48,47	G	C	0	1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant; Lymphedema, hereditary, III, 616843 (3), Autosomal recessive	.	.	.	23695678|23479567|17253968|9718354|20813920|22343900|26333996|26390154|11001917|9827909|21944700|22343891|25119035|18377960|5559828|9039502|16854388|89283|16898969|22529292	GO_ION_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELL_ADHESION_MEDIATED_BY_INTEGRIN;GO_POSITIVE_REGULATION_OF_CELL_ADHESION_MEDIATED_BY_INTEGRIN;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_TRANSMEMBRANE_TRANSPORT	GO_CELL_PROJECTION_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_LEADING_EDGE_MEMBRANE;GO_LAMELLIPODIUM_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_LAMELLIPODIUM;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CELL_LEADING_EDGE;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION	GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Neuropil showed distinct immunoreactivity. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000103335-PIEZO1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 25.1	.	.	PP2
H	16	88925960	rs3784874	G	A	222	PASS	TRAPPC2L	Trafficking protein particle complex 2-like	exonic	NM_001318527,NM_001318529,NM_001318532	.	missense SNV	TRAPPC2L:NM_001318527:exon3:c.G3A:p.M1I,TRAPPC2L:NM_001318529:exon3:c.G3A:p.M1I,TRAPPC2L:NM_001318532:exon3:c.G3A:p.M1I	ENST00000562792.1,ENST00000565504.5,ENST00000568583.5,ENSG00000167515.10,ENST00000567895.5,ENST00000561840.1,ENST00000565309.1,ENST00000565205.5,ENST00000562125.1,ENST00000301021.7,ENST00000564365.5,ENST00000567312.5,ENST00000564404.5	.	16q24.3	.	.	.	.	.	rs3784874	.	.	0.0149502	0.0198	0.00539137	.	0.00576761	270476	0.01593282	18578	0.01166407	0.00792254	.	-0.0381	.	.	.	.	.	.	.	.	.	-0.003	-0.111	.	.	.	VDB=0.00247809;SGB=-0.693147;RPB=0.995895;MQB=8.08077e-20;MQSB=0.899842;BQB=0.955558;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=151;DP4=61,14,38,14;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:127:255,0,255:75,52	G	A	0	1	Trafficking protein particle complex 2-like, 610970	.	.	.	21525244|11042152	GO_VESICLE_LOCALIZATION;GO_VESICLE_ORGANIZATION;GO_VESICLE_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_BUDDING;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MEMBRANE_BUDDING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_VESICLE_COATING;GO_MEMBRANE_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_ORGANELLE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000167515-TRAPPC2L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 43.7	cytoplasm; vesicles	.	.
L	16	88926026	rs3826063	C	T	222	PASS	TRAPPC2L	Trafficking protein particle complex 2-like	exonic	NM_001318526,NM_001318527,NM_001318529,NM_001318532	.	synonymous SNV	TRAPPC2L:NM_001318526:exon3:c.C132T:p.T44T,TRAPPC2L:NM_001318527:exon3:c.C69T:p.T23T,TRAPPC2L:NM_001318529:exon3:c.C69T:p.T23T,TRAPPC2L:NM_001318532:exon3:c.C69T:p.T23T	ENST00000562792.1,ENST00000565504.5,ENST00000568583.5,ENSG00000167515.10,ENST00000567895.5,ENST00000561840.1,ENST00000565309.1,ENST00000565205.5,ENST00000562125.1,ENST00000301021.7,ENST00000564365.5,ENST00000567312.5,ENST00000564404.5	.	16q24.3	.	.	.	.	.	rs3826063	.	.	0.0149502	0.0198	0.0125799	0.0193	0.02117032	277086	0.01997880	18870	0.01340847	0.00704225	.	0.0158	.	.	.	.	.	.	.	.	.	-0.929	-1.021	.	.	.	VDB=0.798712;SGB=-0.693147;RPB=0.891838;MQB=1.66509e-24;MQSB=0.998996;BQB=0.777986;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=207;DP4=76,17,52,10;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:155:255,0,255:93,62	C	T	0	1	Trafficking protein particle complex 2-like, 610970	.	.	.	21525244|11042152	GO_VESICLE_LOCALIZATION;GO_VESICLE_ORGANIZATION;GO_VESICLE_TARGETING;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_BUDDING;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MEMBRANE_BUDDING;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_VESICLE_COATING;GO_MEMBRANE_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_ORGANELLE_LOCALIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000167515-TRAPPC2L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 43.7	cytoplasm; vesicles	.	BP7
L	16	89016829	rs372588664	G	C	222	PASS	LOC100129697	.	exonic	NM_001290330	.	synonymous SNV	LOC100129697:NM_001290330:exon2:c.G303C:p.P101P	ENST00000268679.8,ENST00000378347.2,ENSG00000205018.2,ENSG00000129993.14,ENST00000570046.1,ENST00000563640.1	.	16q24.3	.	.	.	.	.	rs372588664	.	.	0.0149502	0.0198	0.00419329	.	0.00051723	156604	0.00445131	11008	0.00973141	0.00793651	.	.	.	.	.	.	.	.	.	.	.	0.119	-1.061	.	.	.	VDB=0.000124725;SGB=-0.693147;RPB=0.64809;MQB=2.95109e-15;MQSB=0.377204;BQB=0.0977928;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=236;DP4=72,30,45,36;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:133:.:.	0/0:100:.:.	0/0:124:.:.	0/0:103:.:.	0/1:183:255,0,255:102,81	G	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7
L	16	89017486	rs750866834	C	G	128	PASS	LOC100129697	.	exonic	NM_001290330	.	synonymous SNV	LOC100129697:NM_001290330:exon2:c.C960G:p.S320S	ENST00000268679.8,ENST00000378347.2,ENSG00000205018.2,ENSG00000129993.14,ENST00000570046.1,ENST00000563640.1	.	16q24.3	.	.	.	.	.	rs750866834	.	.	.	.	.	.	0.00023277	150362	0.00018325	10914	0.00409676	0.00278552	.	.	.	.	.	.	.	.	.	.	.	0.064	1.195	.	.	.	VDB=1.1012e-15;SGB=-0.693147;RPB=0.000370113;MQB=0.0535762;MQSB=0.0661266;BQB=0.60334;MQ0F=0;ICB=1;HOB=0.5;MQ=39;DP=296;DP4=92,83,20,32;MinDP=87;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:102:.:.	0/0:103:.:.	0/0:93:.:.	0/0:101:.:.	0/0:87:.:.	0/0:101:.:.	0/1:227:162,0,255:175,52	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7, PM2
H	16	89293607	rs186658378	C	T	222	PASS	ZNF778	.	exonic	NM_001201407,NM_182531	.	missense SNV	ZNF778:NM_182531:exon6:c.C827T:p.P276L,ZNF778:NM_001201407:exon7:c.C911T:p.P304L	ENST00000306502.6,ENST00000433976.6,ENSG00000170100.13,ENSG00000260659.1,ENST00000567651.5,ENST00000620195.4,ENST00000563182.1	.	16q24.3	.	.	.	.	.	rs186658378	.	.	0.00664452	0.004	0.000798722	.	0.00020564	277180	0.00302067	18870	0.00330354	0.00440141	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2	0.038,D	0.0,B	0.0,B	0.698949,N	.	-0.045,N	1.72,T	8.1979	0.927	2.534	2.778214,21.3	.	0.000968996669414	VDB=0.0169197;SGB=-0.69311;RPB=0.36064;MQB=1.04749e-07;MQSB=0.276688;BQB=0.910599;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=82;DP4=11,19,18,13;MinDP=45;AN=18;AC=1	GT:DP:PL:AD	0/0:53:.:.	0/0:56:.:.	0/0:51:.:.	0/0:60:.:.	0/0:45:.:.	0/0:50:.:.	0/0:51:.:.	0/0:56:.:.	0/1:61:255,0,255:30,31	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous nuclear and cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000170100-ZNF778/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 4.9	nucleus	.	PM1, PM2
H	16	89774947	rs117906686	G	A	222	PASS	VPS9D1	.	splicing	NM_004913	NM_004913:exon14:c.1698-8C>T	.	.	ENST00000565023.1,ENST00000389386.7,ENST00000561976.5,ENSG00000075399.13	.	16q24.3	.	.	.	.	.	rs117906686	.	.	0.00498339	0.005	0.000998403	.	0.00112493	268462	0.01530885	18682	0.01535173	0.02116402	0.0001,0.022	11.6206	.	.	.	.	.	.	.	.	.	0.437	-0.021	.	.	.	VDB=0.0274009;SGB=-0.69311;RPB=0.97013;MQB=7.08245e-08;MQSB=0.718297;BQB=0.715152;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=82;DP4=10,27,5,26;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/1:68:255,0,255:37,31	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in a subset of tissues including the spleen, bone marrow and renal proximal tubules.	http://www.proteinatlas.org/ENSG00000075399-VPS9D1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	appendix: 11.4	nucleus; cytoplasm; vesicles	.	.
L	16	90168694	.	GGCAGCA	G	225	PASS	FAM157B,FAM157C	.	ncRNA_exonic;splicing	NR_126161,NR_146178,NR_146178	.	.	.	ENSG00000260528.4,ENST00000563357.1	.	16q24.3	.	.	.	Score=0.995706;Name=chr9:141102247	Score=444;Name="1804354:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.11593920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.541494,1.542	.	.	INDEL;VDB=0.0264416;SGB=-0.692352;MQSB=0.364182;MQ0F=0;MQ=44;ICB=1;HOB=0.5;DP=283;DP4=4,7,96,80;IDV=47;IMF=0.833333;AN=18;AC=4	GT:PL:DP:AD	1/2:255,221,197,221,.,200,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:21:0,8,7,.,.,.,.	2/3:255,.,.,255,.,255,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:23:0,.,12,11,.,.,.	2/4:255,.,.,255,.,253,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.:38:0,.,18,.,10,.,.	0/0:132,.,.:20:11,.	0/0:255,.,.:16:0,.	0/0:255,.,.:11:0,.	0/0:255,.,.:24:0,.	0/0:255,.,.:16:0,.	2/5:255,.,.,141,.,108,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.:18:0,.,11,.,.,5,.	GGCAGCA	GGCGGCAGCAGCAGCAGCAGCA,G,GGCA,GGCAGCAGCA,GGCGGCAGCAGCAGCAGCA,GGCGGCAGCAGCAGCAGCAGCAGCA	0	4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	16	90168694	.	G	GGCGGCAGCAGCA	225	PASS	FAM157C,FAM157B	.	ncRNA_exonic;splicing	NR_126161,NR_146178	NR_146178:exon1:c.223+5->GCGGCAGCAGCA;NR_146178:exon2:c.224-5->GCGGCAGCAGCA	.	.	ENSG00000260528.4,ENST00000563357.1	.	16q24.3	.	.	.	Score=0.995706;Name=chr9:141102247	Score=444;Name="1804354:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.16465316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.585735,1.372	.	.	INDEL;VDB=0.0264416;SGB=-0.692352;MQSB=0.364182;MQ0F=0;MQ=44;ICB=1;HOB=0.5;DP=283;DP4=4,7,96,80;IDV=47;IMF=0.833333;AN=18;AC=4	GT:PL:DP:AD	0/0:255,.,.:21:0,.	0/0:255,.,.:23:0,.	0/0:255,.,.:38:0,.	0/0:132,.,.:20:11,.	1/5:255,153,120,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.:16:0,11,.,.,.,4,.	0/0:255,.,.:11:0,.	0/0:255,.,.:24:0,.	5/5:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,48,.,.,.,.,0,.,.,.,.,.,.,.:16:0,.,.,.,.,16,.	2/5:255,.,.,141,.,108,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.:18:0,.,11,.,.,5,.	GGCAGCA	GGCGGCAGCAGCAGCAGCAGCA,G,GGCA,GGCAGCAGCA,GGCGGCAGCAGCAGCAGCA,GGCGGCAGCAGCAGCAGCAGCAGCA	1	2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
H*	17	729194	rs200148704	G	A	181	PASS	NXN	Nucleoredoxin	splicing	NM_001205319,NM_022463	NM_001205319:exon2:c.154+7C>T;NM_022463:exon2:c.478+7C>T	.	.	ENSG00000167693.16,ENST00000575455.5,ENST00000575171.1,ENST00000571338.1,ENST00000537628.6,ENST00000577098.5,ENST00000575801.5,ENST00000571684.5,ENST00000336868.7	.	17p13.3	.	.	.	.	.	rs200148704	.	.	0.00664452	0.005	0.000998403	.	0.00092804	270462	0.01314813	18862	0.01068791	0.01056338	0.0002,0.012	9.4540	.	.	.	.	.	.	.	.	.	0.408	0.746	.	.	.	VDB=0.234327;SGB=-0.683931;RPB=0.586241;MQB=0.00012341;MQSB=0.997257;BQB=0.920158;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=29;DP4=10,2,11,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:25:214,0,229:12,13	G	A	0	1	Nucleoredoxin, 612895	.	.	.	9119370	GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_DETOXIFICATION;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	.	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in a few tissues including urinary bladder, renal tubules and uterus.	http://www.proteinatlas.org/ENSG00000167693-NXN/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	endometrium: 26.7	cytoplasm; golgi apparatus	.	.
L	17	2929737	rs182357776	C	A	222	PASS	RAP1GAP2	.	exonic	NM_001100398,NM_001330058,NM_015085	.	synonymous SNV	RAP1GAP2:NM_001100398:exon20:c.C1914A:p.A638A,RAP1GAP2:NM_001330058:exon21:c.C1902A:p.A634A,RAP1GAP2:NM_015085:exon21:c.C1959A:p.A653A	ENST00000540393.6,ENST00000637138.1,ENST00000366401.8,ENST00000542807.1,ENST00000254695.12,ENSG00000132359.14	.	17p13.3	.	.	.	.	.	rs182357776	.	.	0.00498339	0.004	0.000798722	.	0.00067256	178424	0.00997506	12030	0.00913331	0.00796460	.	0.1652	.	.	.	.	.	.	.	.	.	1.275	0.485	2.354889,18.53	4.38	.	VDB=0.253906;SGB=-0.693147;RPB=0.380686;MQB=1.33087e-13;MQSB=0.961237;BQB=0.887519;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=242;DP4=73,16,66,16;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:171:255,0,255:89,82	C	A	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SIZE;GO_NEUROGENESIS;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_NUCLEAR_ENVELOPE;GO_MICROTUBULE_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	REACTOME_RAP1_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Ubiquitous cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000132359-RAP1GAP2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 16.8	nuclear membrane; cytoplasm	.	PP3
H	17	3336510	rs758478725	A	T	222	PASS	OR1E2	.	exonic	NM_003554	.	missense SNV	OR1E2:NM_003554:exon1:c.T626A:p.F209Y	ENSG00000127780.3,ENST00000248384.1	.	17p13.2	.	.	.	.	.	rs758478725	.	.	.	.	.	.	0.00001626	246014	0.00023196	17244	0.00019440	.	.	.	GPCR, rhodopsin-like, 7TM	0.114,T	0.248,B	0.183,B	1,N	0.004788,N	1.36,L	8.67,T	13.9444	2.159	3.584	1.320856,12.38	5.15	0.000788910587272	VDB=0.139183;SGB=-0.693144;RPB=0.189512;MQB=0.0132991;MQSB=0.86111;BQB=0.652439;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=108;DP4=22,29,27,12;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:90:255,0,255:51,39	A	T	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	.	http://www.proteinatlas.org/ENSG00000127780-OR1E2/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM1, PM2
L	17	3844598	.	C	G	222	PASS	ATP2A3	ATPase, Ca(2+)-transporting, ubiquitous	exonic	NM_005173,NM_174953,NM_174954,NM_174955,NM_174956,NM_174957,NM_174958	.	synonymous SNV	ATP2A3:NM_005173:exon14:c.G1767C:p.T589T,ATP2A3:NM_174953:exon14:c.G1767C:p.T589T,ATP2A3:NM_174954:exon14:c.G1767C:p.T589T,ATP2A3:NM_174955:exon14:c.G1767C:p.T589T,ATP2A3:NM_174956:exon14:c.G1767C:p.T589T,ATP2A3:NM_174957:exon14:c.G1767C:p.T589T,ATP2A3:NM_174958:exon14:c.G1767C:p.T589T	ENST00000309890.11,ENST00000352011.7,ENST00000359983.7,ENST00000397043.7,ENST00000397041.7,ENSG00000074370.17,ENST00000397035.7	CpG: 30	17p13.2	.	.	Score=787;Name=V$ER_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	-0.0954	.	.	.	.	.	.	.	.	.	0.112	-0.656	1.123106,11.34	.	.	VDB=0.986769;SGB=-0.693147;RPB=0.822388;MQB=1.67996e-31;MQSB=0.997075;BQB=0.807845;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=271;DP4=70,63,52,41;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:226:255,0,255:133,93	C	G	0	1	ATPase, Ca(2+)-transporting, ubiquitous, 601929	.	.	.	12401716|15028735|9593748|8809064|11986315|9374548|11956212|9843705	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_METAL_ION_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_ION_HOMEOSTASIS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_NUCLEAR_ENVELOPE;GO_SARCOPLASMIC_RETICULUM_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_DENSE_TUBULAR_NETWORK;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_SARCOPLASM;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE	.	.	REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_CALCIUM_HOMEOSTASIS;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT;REACTOME_SIGNALING_BY_NOTCH;REACTOME_HEMOSTASIS	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000074370-ATP2A3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 83.4	.	.	BP7, PM2
L	17	3846739	rs761171240	G	A	222	PASS	ATP2A3	ATPase, Ca(2+)-transporting, ubiquitous	exonic	NM_005173,NM_174953,NM_174954,NM_174955,NM_174956,NM_174957,NM_174958	.	synonymous SNV	ATP2A3:NM_005173:exon11:c.C1365T:p.F455F,ATP2A3:NM_174953:exon11:c.C1365T:p.F455F,ATP2A3:NM_174954:exon11:c.C1365T:p.F455F,ATP2A3:NM_174955:exon11:c.C1365T:p.F455F,ATP2A3:NM_174956:exon11:c.C1365T:p.F455F,ATP2A3:NM_174957:exon11:c.C1365T:p.F455F,ATP2A3:NM_174958:exon11:c.C1365T:p.F455F	ENST00000309890.11,ENST00000352011.7,ENST00000572694.1,ENST00000359983.7,ENST00000397043.7,ENST00000397041.7,ENSG00000074370.17,ENST00000397035.7	.	17p13.2	.	.	.	.	.	rs761171240	.	.	.	.	.	.	0.00036448	277106	0.00529998	18868	0.00194326	0.00382409	.	-0.5618	.	.	.	.	.	.	.	.	.	-2.224	-0.144	1.346678,12.51	.	.	VDB=0.499289;SGB=-0.693147;RPB=0.997248;MQB=0.0577241;MQSB=0.888849;BQB=0.968379;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=418;DP4=87,43,125,44;MinDP=58;AN=18;AC=2	GT:DP:PL:AD	0/0:58:.:.	0/0:100:.:.	0/0:100:.:.	0/1:156:255,0,255:62,94	0/0:100:.:.	0/0:65:.:.	0/0:63:.:.	0/0:101:.:.	0/1:143:255,0,255:68,75	G	A	0	2	ATPase, Ca(2+)-transporting, ubiquitous, 601929	.	.	.	12401716|15028735|9593748|8809064|11986315|9374548|11956212|9843705	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_METAL_ION_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_ION_HOMEOSTASIS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_NUCLEAR_ENVELOPE;GO_SARCOPLASMIC_RETICULUM_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_DENSE_TUBULAR_NETWORK;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_SARCOPLASM;GO_ENVELOPE;GO_NUCLEAR_MEMBRANE;GO_ENDOPLASMIC_RETICULUM	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE	.	.	REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_CALCIUM_HOMEOSTASIS;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT;REACTOME_SIGNALING_BY_NOTCH;REACTOME_HEMOSTASIS	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000074370-ATP2A3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 83.4	.	.	BP7
H	17	4535294	rs201278134	T	C	222	PASS	ALOX15	Arachidonate 15-lipoxygenase	exonic	NM_001140	.	missense SNV	ALOX15:NM_001140:exon13:c.A1699G:p.T567A	ENST00000570836.5,ENSG00000161905.12,ENST00000574640.1,ENST00000293761.7	.	17p13.2	.	.	.	.	.	rs201278134	.	.	0.00498339	0.004	0.000798722	.	0.00010477	276802	0.00153683	18870	0.00252623	0.00176056	.	-0.0980	Lipoxygenase, C-terminal	0.013,D	0.731,P	0.873,P	0.998956,N	0.023452,N	2.075,M	-1.09,T	9.7932	1.818	2.277	3.128935,22.6	4.33	0.00874696481447	VDB=0.897582;SGB=-0.693147;RPB=0.983421;MQB=4.91914e-10;MQSB=0.48167;BQB=0.840894;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=259;DP4=67,55,49,43;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/1:214:255,0,255:122,92	T	C	0	1	Arachidonate 15-lipoxygenase, 152392	.	.	.	1570320|10200270|14716014|3202857|2315307	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLETHANOLAMINE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HETEROTYPIC_CELL_CELL_ADHESION;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_APOPTOTIC_CELL_CLEARANCE;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_RESPONSE_TO_METAL_ION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_WOUND_HEALING;GO_DEFENSE_RESPONSE;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_LIPOXYGENASE_PATHWAY;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_BONE_MINERALIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_PEROXISOME_PROLIFERATOR_ACTIVATED_RECEPTOR_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_OSSIFICATION;GO_REGULATION_OF_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_CALCIUM_ION;GO_PHOSPHATIDYLETHANOLAMINE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_BIOMINERAL_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_REGULATION_OF_PHAGOCYTOSIS;GO_REGULATION_OF_MEMBRANE_INVAGINATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_RESPONSE_TO_CYTOKINE;GO_FATTY_ACID_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_PHAGOCYTOSIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_LEUKOTRIENE_METABOLIC_PROCESS;GO_UNSATURATED_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_TISSUE_DEVELOPMENT;GO_RESPONSE_TO_CALCIUM_ION	GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_LIPID_PARTICLE;GO_SIDE_OF_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_PHOSPHATIDYLINOSITOL_4_5_BISPHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_DIOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_PHOSPHATIDYLINOSITOL_BISPHOSPHATE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_SINGLE_DONORS_WITH_INCORPORATION_OF_MOLECULAR_OXYGEN;GO_IRON_ION_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_ISOMERASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ETHER_BONDS	KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM	PID_IL4_2PATHWAY	.	.	Cytoplasmic expression in mostly in epithelial cells. Most abundant in airway epithelium and subsets of inflammatory cells.	http://www.proteinatlas.org/ENSG00000161905-ALOX15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	small intestine: 2.5	.	.	PM1, PM2
L	17	4797361	rs56279314	C	T	222	PASS	MINK1	Misshapen/nik-related kinase 1	exonic	NM_001024937,NM_001321236,NM_015716,NM_153827,NM_170663	.	synonymous SNV	MINK1:NM_015716:exon21:c.C2532T:p.Y844Y,MINK1:NM_001024937:exon22:c.C2583T:p.Y861Y,MINK1:NM_001321236:exon22:c.C2367T:p.Y789Y,MINK1:NM_153827:exon22:c.C2643T:p.Y881Y,MINK1:NM_170663:exon22:c.C2556T:p.Y852Y	ENST00000572304.1,ENST00000355280.10,ENSG00000141503.15,ENST00000347992.11,ENST00000571207.5,ENST00000574453.5,ENST00000453408.7,ENST00000572330.5	.	17p13.2	.	.	Score=831;Name=V$SRF_Q6	.	.	rs56279314	.	.	0.00996678	0.0159	0.00319489	.	0.00122563	257010	0.01582521	18262	0.01846094	0.02389381	.	0.2857	.	.	.	.	.	.	.	.	.	-1.839	-3.273	1.350792,12.53	.	.	VDB=0.544349;SGB=-0.693147;RPB=0.866225;MQB=1.93224e-23;MQSB=0.999712;BQB=0.0957466;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=200;DP4=56,26,52,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:105:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:159:255,0,255:82,77	C	T	0	1	Misshapen/nik-related kinase 1, 609426	.	.	.	12087176|10708748|15469942|15608642	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_REGULATION_OF_ALPHA_AMINO_3_HYDROXY_5_METHYL_4_ISOXAZOLE_PROPIONATE_SELECTIVE_GLUTAMATE_RECEPTOR_ACTIVITY;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_DENDRITE_MORPHOGENESIS;GO_JNK_CASCADE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_JNK_CASCADE;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_NEUROTRANSMITTER_RECEPTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_ACTIN_CYTOSKELETON_REORGANIZATION;GO_MICROVILLUS_ORGANIZATION;GO_REGULATION_OF_ION_TRANSPORT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_CELL_DEVELOPMENT;GO_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_EXCITATORY_SYNAPSE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_CELL_JUNCTION;GO_SYNAPSE;GO_POSTSYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_GOLGI_APPARATUS;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE;GO_DENDRITE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000141503-MINK1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 46.5	.	.	BP7
L	17	5074890	rs144325342	A	G	130	PASS	USP6	Ubiquitin-specific protease 6	exonic	NM_001304284,NM_004505	.	synonymous SNV	USP6:NM_004505:exon29:c.A3963G:p.S1321S,USP6:NM_001304284:exon37:c.A3963G:p.S1321S	ENSG00000129204.16,ENST00000250066.6,ENST00000575709.5,ENST00000572949.5,ENST00000574788.5	.	17p13.2	.	.	.	Score=0.960339;Name=chr17:18414116	.	rs144325342	.	.	0.0598007	0.0506	0.0105831	0.0002	0.00294689	276902	0.03884884	18868	0.03167509	0.03873239	.	3.6057	.	.	.	.	.	.	.	.	.	1.080	3.250	.	2.35	.	VDB=0.126837;SGB=-0.636426;RPB=0.982013;MQB=0.00159936;MQSB=0.999048;BQB=0.69242;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=96;DP4=39,7,26,1;MinDP=10;AN=18;AC=3	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:24:123,0,255:17,7	0/1:25:155,0,255:16,9	0/0:30:.:.	0/0:30:.:.	0/1:24:163,0,255:13,11	A	G	0	3	Ubiquitin-specific protease 6, 604334	.	.	.	3274085|2840623|1565468|12604796	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_VACUOLE;GO_LYTIC_VACUOLE;GO_RECYCLING_ENDOSOME;GO_ENDOSOME	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_CALMODULIN_BINDING;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	PID_ARF6_PATHWAY	.	.	Cytoplasmic and nuclear positivity in several tissue types. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000129204-USP6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 2.0	vesicles	.	BS1
H	17	7192869	rs200432202	G	C	222	PASS	YBX2	Y box-binding protein 2	exonic	NM_015982	.	missense SNV	YBX2:NM_015982:exon7:c.C1024G:p.R342G	ENSG00000006047.12,ENST00000571834.5,ENST00000007699.9,ENST00000571485.5,ENST00000570720.1,ENST00000571464.1	.	17p13.1	.	.	.	.	.	rs200432202	.	.	0.0199336	0.0179	0.00399361	0.0004	0.00116433	254224	0.01286280	18192	0.01146522	0.01232394	.	-1.0814	.	0.001,D	0.118,B	0.789,P	0.888084,N	0.384935,U	0.49,N	1.93,T	.	0.064	0.064	2.365177,18.59	.	.	VDB=0.166708;SGB=-0.693146;RPB=0.236689;MQB=1.60759e-11;MQSB=0.993053;BQB=0.805002;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=114;DP4=34,6,36,6;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/1:82:255,0,255:40,42	G	C	0	1	Y box-binding protein 2, 611447	.	.	.	9780336|16479255|10100484	GO_OOGENESIS;GO_MALE_GAMETE_GENERATION;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SEXUAL_REPRODUCTION;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_OOCYTE_DIFFERENTIATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_FEMALE_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	GO_NUCLEOLUS	GO_RNA_BINDING	.	.	.	.	Selective cytoplasmic expression in testis.	http://www.proteinatlas.org/ENSG00000006047-YBX2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adipose tissue: 3.6	nucleoli	.	.
H	17	8725262	rs773212350	G	A	222	PASS	PIK3R6	Phosphatidylinositol 3-kinase, regulatory subunit 6	splicing	NM_001010855,NM_001290211	NM_001010855:exon17:c.1789-9C>T;NM_001290211:exon17:c.1381-9C>T	.	.	ENST00000614407.1,ENSG00000276231.4,ENST00000613555.4,ENST00000619866.4,ENST00000611951.4	.	17p13.1	.	.	.	.	.	rs773212350	.	.	.	.	.	.	0.00007005	171314	0.00082645	12100	0.00058298	.	.	3.3795	.	.	.	.	.	.	.	.	.	0.454	0.471	.	.	.	VDB=0.0229647;SGB=-0.693147;RPB=0.921675;MQB=7.38341e-14;MQSB=0.880324;BQB=0.173892;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=134;DP4=25,31,18,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:53:.:.	0/0:101:.:.	0/0:52:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/1:103:255,0,255:56,47	G	A	0	1	Phosphatidylinositol 3-kinase, regulatory subunit 6, 611462	.	.	.	16476736	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_ACTIVATION;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_WOUND_HEALING;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_ANGIOGENESIS;GO_REGULATION_OF_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELL_KILLING;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_HEMOSTASIS;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_TRANSFERASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PHOSPHATIDYLINOSITOL_3_KINASE_COMPLEX;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE	GO_KINASE_REGULATOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_TXA2PATHWAY;PID_CXCR4_PATHWAY;PID_PI3KCI_PATHWAY;PID_EPHA_FWDPATHWAY;PID_PDGFRB_PATHWAY;PID_IL8_CXCR2_PATHWAY;PID_IL8_CXCR1_PATHWAY	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_SIGNALING_BY_GPCR;REACTOME_GPVI_MEDIATED_ACTIVATION_CASCADE;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA;REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Cytoplasmic expression in several tissue types.	http://www.proteinatlas.org/ENSG00000276231-PIK3R6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 3.2	.	.	PM2
L	17	10402142	rs148781664	G	A	222	PASS	MYH1	Myosin, heavy polypeptide-1, skeletal muscle, adult	splicing	NM_005963	NM_005963:exon30:c.3985-3C>T	.	.	ENSG00000109061.9,ENST00000399342.6,ENST00000581304.1,ENSG00000272736.5,ENST00000587182.2,ENST00000226207.5,ENSG00000272975.1	.	17p13.1	.	.	.	.	.	rs148781664	.	.	0.0564784	0.0556	0.0151757	0.0009	0.01406045	276876	0.04245283	18868	0.03245239	0.03961268	0.0005,0.026	-1.2073	.	.	.	.	.	.	.	.	.	0.093	0.108	1.216055,11.83	.	.	VDB=0.385253;SGB=-0.693145;RPB=0.815197;MQB=3.83017e-09;MQSB=0.478786;BQB=0.432246;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=88;DP4=15,17,18,23;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:73:255,0,255:32,41	G	A	0	1	Myosin, heavy polypeptide-1, skeletal muscle, adult, 160730	.	.	.	3000272|3653886|6879174|6304733|6654334|7545970|8518795|10077619|10388558|3864153|16121187|1465443	GO_MUSCLE_CONTRACTION;GO_SYSTEM_PROCESS;GO_MUSCLE_SYSTEM_PROCESS	GO_CELL_CELL_CONTACT_ZONE;GO_MUSCLE_MYOSIN_COMPLEX;GO_INTERCALATED_DISC;GO_ACTIN_CYTOSKELETON;GO_MYOSIN_FILAMENT;GO_CELL_JUNCTION;GO_RIBONUCLEOPROTEIN_GRANULE;GO_CONTRACTILE_FIBER;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_CELL_CELL_JUNCTION;GO_A_BAND;GO_MYOSIN_II_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CALMODULIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_TIGHT_JUNCTION;KEGG_VIRAL_MYOCARDITIS	.	.	.	Selective cytoplasmic expression in heart and skeletal muscle.	http://www.proteinatlas.org/ENSG00000109061-MYH1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	prostate: 2.7	.	.	BS1
L	17	15164039	.	G	A	222	PASS	PMP22	Peripheral myelin protein-22	exonic	NM_000304,NM_001281455,NM_001281456,NM_001330143,NM_153321,NM_153322	.	synonymous SNV	PMP22:NM_153322:exon1:c.C6T:p.L2L,PMP22:NM_000304:exon2:c.C6T:p.L2L,PMP22:NM_001281455:exon2:c.C6T:p.L2L,PMP22:NM_001281456:exon2:c.C6T:p.L2L,PMP22:NM_001330143:exon2:c.C6T:p.L2L,PMP22:NM_153321:exon2:c.C6T:p.L2L	ENST00000395936.5,ENST00000312280.7,ENSG00000279660.1,ENSG00000109099.13,ENST00000426385.3,ENST00000471150.2,ENST00000395938.6,ENST00000623265.1,ENST00000494511.5,ENST00000612492.4,ENST00000580584.1,ENST00000580497.1	CpG: 77	17p12	.	.	.	.	.	.	.	.	.	.	.	.	0.00001332	150172	0.00019220	10406	.	.	.	-0.2961	.	.	.	.	.	.	.	.	.	-0.734	-0.334	1.823592,15.13	.	.	VDB=0.109929;SGB=-0.693147;RPB=0.990866;MQB=2.05418e-14;MQSB=0.880748;BQB=0.878483;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=118;DP4=24,19,30,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:43,46	G	A	0	1	Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant	.	.	.	11140948|18698610|9543325|8996089|11835375|17796454|8422677|21193943|1347472|8482547|10489052|1564512|8848937|10433908|10915777|8589708|1497668|16401743|1349106|1721895|8492918|9544841|9195231|9004143|10915775|475348|9842994|15205993|12439896|7139106|10330345|8541860|17620487|24530202|8651299|10545609|7825607|1677316|1301995|1552536|1692961|9585367|1303210|8198134|1303231|15786462|19259128|9678704|9888385|8988161|8012388|19067730|10818147|12796555|3467805|8111370|10211478|1303228|1303282|1822787|1552545|9545397|8589720|8275092|8252046|8510709|7829101|9894872|12578939|21670407|3409319|8630243|16437560|8956034|1556154|1935894|1374899|1552943|6380756|1297450|1303230|11752407|8583222|8500795|1303281|1303229|7728152|1999826|8105684|10440896|9040737|19543269|20493460	GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELL_PROJECTION_ASSEMBLY;GO_CELL_DEATH;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_ENSHEATHMENT_OF_NEURONS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_PROJECTION_ORGANIZATION;GO_PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_APICAL_JUNCTION_COMPLEX;GO_COMPACT_MYELIN;GO_CELL_JUNCTION;GO_MYELIN_SHEATH;GO_CELL_CELL_JUNCTION	.	.	PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000109099-PMP22/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 212.8	.	.	BP7, PM2
H	17	17717983	rs576886028	G	A	222	PASS	SREBF1	Sterol regulatory element binding transcription factor 1	exonic	NM_001005291,NM_001321096,NM_004176	.	missense SNV	SREBF1:NM_001321096:exon15:c.C2609T:p.A870V,SREBF1:NM_004176:exon15:c.C2681T:p.A894V,SREBF1:NM_001005291:exon16:c.C2771T:p.A924V	ENST00000447641.5,ENST00000581707.1,ENST00000261646.9,ENST00000395756.5,ENST00000395757.5,ENST00000395751.8,ENST00000355815.8,ENST00000490796.1,ENSG00000072310.16	.	17p11.2	.	.	.	.	.	rs576886028	.	.	0.00166113	0.002	0.000399361	.	0.00026711	213392	0.00351399	14798	0.00194326	0.00088339	.	-0.0048	.	0.51,T	0.999,D	1.0,D	1,D	0.000000,D	1.04,L	2.48,T	13.608	2.658	5.548	3.409235,23.0	5.62	.	VDB=0.0195367;SGB=-0.693147;RPB=0.86696;MQB=1.81413e-13;MQSB=0.446108;BQB=0.848387;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=143;DP4=31,12,50,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:105:255,0,255:43,62	G	A	0	1	Sterol regulatory element binding transcription factor 1, 184756	.	.	.	16081540|21266776|10619424|26147081|7759101|15680331|11929849|15123654|20466882|11485982|9329978|9784493|10949029|9062340|19966780|11546755|8156598|16799563|8402897	GO_CIRCADIAN_RHYTHM;GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_AUTOPHAGY;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS;GO_REGULATION_OF_HISTONE_DEACETYLATION;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_STEROID_HORMONE;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_PROTEIN_DEACETYLATION;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_FOOD;GO_REGULATION_OF_HEART_CONTRACTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_AGING;GO_REGULATION_OF_CHOLESTEROL_BIOSYNTHETIC_PROCESS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_GLUCAGON;GO_POSITIVE_REGULATION_OF_HISTONE_DEACETYLATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_CAMP;GO_REGULATION_OF_HORMONE_SECRETION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_REGULATION_OF_HEART_RATE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_TUBE_DEVELOPMENT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_NEGATIVE_REGULATION_OF_SECRETION;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_POSITIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_PROTEIN_STABILITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_MITOPHAGY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_STEROID_METABOLIC_PROCESS;GO_FAT_CELL_DIFFERENTIATION;GO_RESPONSE_TO_PROGESTERONE;GO_RESPONSE_TO_FATTY_ACID;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_FATTY_ACID;GO_MRNA_TRANSCRIPTION;GO_NEGATIVE_REGULATION_OF_HORMONE_SECRETION;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_DRUG;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RHYTHMIC_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_PROTEIN_DEACETYLATION;GO_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_RETINOIC_ACID;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_REGULATION_OF_CHOLESTEROL_METABOLIC_PROCESS;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRIGLYCERIDE_BIOSYNTHETIC_PROCESS;GO_STEROL_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_PROTEIN_TARGETING;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_MRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_ENVELOPE;GO_ER_TO_GOLGI_TRANSPORT_VESICLE;GO_VESICLE_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_COATED_VESICLE_MEMBRANE;GO_ER_TO_GOLGI_TRANSPORT_VESICLE_MEMBRANE;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_ENVELOPE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_ENDOPLASMIC_RETICULUM;GO_TRANSPORT_VESICLE_MEMBRANE	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_ENZYME_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_INSULIN_SIGNALING_PATHWAY	PID_MTOR_4PATHWAY;PID_RXR_VDR_PATHWAY;PID_CASPASE_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CIRCADIAN_CLOCK;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	Strong cytoplasmic staining was observed in adrenocortical cells. Thyroid, kidney, trophoblastic cells, prostate and Purkinje cells displayed moderate positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000072310-SREBF1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 54.1	cytoplasm; golgi apparatus	.	PM2, PP3
H	17	18874456	.	C	A	222	PASS	SLC5A10	.	exonic	NM_001042450,NM_001270648,NM_001270649,NM_001282417,NM_152351	.	missense SNV	SLC5A10:NM_001270648:exon7:c.C690A:p.H230Q,SLC5A10:NM_001282417:exon7:c.C522A:p.H174Q,SLC5A10:NM_001042450:exon8:c.C771A:p.H257Q,SLC5A10:NM_001270649:exon8:c.C771A:p.H257Q,SLC5A10:NM_152351:exon8:c.C771A:p.H257Q	ENST00000395645.3,ENST00000395643.6,ENST00000388995.10,ENST00000317977.10,ENST00000417251.6,ENSG00000188522.14,ENST00000395647.6,ENSG00000154025.15,ENST00000345041.4	.	17p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	.	0.073,T	0.015,B	0.072,B	0.949916,D	0.412649,N	0,N	-2.23,D	8.6226	0.402	0.778	2.089111,16.78	.	0.0157490197341	VDB=0.0495856;SGB=-0.693147;RPB=0.814181;MQB=6.18218e-30;MQSB=0.57498;BQB=0.164489;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=385;DP4=108,41,95,36;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:280:255,0,255:149,131	C	A	0	1	.	.	.	.	.	GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	RNA data suggests expression in kidney. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000154025-SLC5A10/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	bone marrow: 1.3	.	.	PM2
L	17	19284857	rs2233077	A	G	222	PASS	MAPK7	Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5)	exonic	NM_002749,NM_139032,NM_139033,NM_139034	.	synonymous SNV	MAPK7:NM_139032:exon2:c.A918G:p.A306A,MAPK7:NM_002749:exon4:c.A1335G:p.A445A,MAPK7:NM_139033:exon4:c.A1335G:p.A445A,MAPK7:NM_139034:exon4:c.A1335G:p.A445A	ENST00000299612.11,ENST00000570306.5,ENST00000571657.5,ENST00000395604.7,ENST00000308406.9,ENST00000573417.1,ENST00000490660.2,ENST00000395602.8,ENSG00000166484.19	.	17p11.2	.	.	.	.	.	rs2233077	.	.	0.00830565	0.0089	0.00179712	.	0.00088658	276344	0.01245627	18866	0.01068791	0.01592920	.	0.0024	.	.	.	.	.	.	.	.	.	-0.448	-0.155	.	.	.	VDB=0.292981;SGB=-0.693147;RPB=0.968445;MQB=9.65599e-19;MQSB=0.954057;BQB=0.820983;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=184;DP4=37,50,29,30;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:146:255,0,255:87,59	A	G	0	1	Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5), 602521	.	.	.	15085193|7646528|10072598|12093914|21187442|7759517	GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_NFAT_PROTEIN_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_RESPONSE_TO_FLUID_SHEAR_STRESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_HETEROTYPIC_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_FLUID_SHEAR_STRESS;GO_PEPTIDYL_SERINE_MODIFICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_HYDROGEN_PEROXIDE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_IN_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_GASTRULATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELL_CYCLE;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_CELL_DEATH;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_IN_RESPONSE_TO_STRESS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_EMBRYONIC_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_IN_ABSENCE_OF_LIGAND;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_RESPONSE_TO_LAMINAR_FLUID_SHEAR_STRESS;GO_RESPONSE_TO_HYDROGEN_PEROXIDE;GO_REGULATION_OF_PROTEIN_TARGETING;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_CAMP_MEDIATED_SIGNALING;GO_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_NUCLEAR_BODY;GO_PML_BODY;GO_NUCLEOPLASM_PART	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_KINASE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_MAP_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_GAP_JUNCTION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY	PID_ERBB1_DOWNSTREAM_PATHWAY;PID_MAPK_TRK_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERKS_ARE_INACTIVATED;REACTOME_ERK_MAPK_TARGETS;REACTOME_SIGNALING_BY_GPCR;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	Most of the normal tissues displayed moderate cytoplasmic and occasional nuclear positivity. Strong staining was observed in pancreas, adrenal cortex, gastrointestinal tract and skeletal muscle. Renal glomeruli were negative.	http://www.proteinatlas.org/ENSG00000166484-MAPK7/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.1	nucleus; cytoplasm	.	BP7
L	17	20361657	rs763829244	T	C	157	PASS	LGALS9B	.	exonic	NM_001042685	.	missense SNV	LGALS9B:NM_001042685:exon3:c.A172G:p.I58V	ENST00000578481.5,ENST00000324290.5,ENSG00000170298.15,ENST00000423676.7	.	17p11.2	.	.	.	Score=0.990706;Name=chr17:18288223	.	rs763829244	.	.	.	.	.	.	0.00001662	240630	0.00023458	17052	.	.	.	0.3053	Concanavalin A-like lectin/glucanase domain;Galectin, carbohydrate recognition domain	0.23,T	0.6,P	0.891,P	0.907455,N	0.000060,N	1.51,L	3.34,T	3.7001	1.140	1.467	2.550596,19.79	.	0.00120961106972	VDB=2.36793e-05;SGB=-0.693147;RPB=0.999544;MQB=0.11294;MQSB=0.0366012;BQB=0.447088;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=278;DP4=64,86,28,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:206:191,0,255:150,56	T	C	0	1	.	.	.	.	.	.	.	GO_CARBOHYDRATE_BINDING	.	.	.	.	Cytoplasmic expression in several cell types, most abundant in glandular cells.	http://www.proteinatlas.org/ENSG00000170298-LGALS9B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	rectum: 10.4	.	.	PM1, PM2
L	17	21319419	rs559211343	C	T	221	PASS	KCNJ12,KCNJ18	Potassium inwardly-rectifying channel, subfamily J, member 12	exonic	NM_001194958,NM_021012	.	synonymous SNV	KCNJ18:NM_001194958:exon3:c.C765T:p.F255F,KCNJ12:NM_021012:exon3:c.C765T:p.F255F	ENSG00000184185.9,ENST00000331718.5,ENST00000583088.5	CpG: 101	17p11.2	.	.	Score=815;Name=V$CEBP_C	.	.	rs559211343	.	.	0	.	0.000199681	.	0.00002843	246256	0.00011596	17248	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.647	-0.348	1.443728,13.02	.	.	VDB=0.238314;SGB=-0.693147;RPB=0.479878;MQB=0.655895;MQSB=0.309114;BQB=0.627386;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=521;DP4=161,130,72,35;MinDP=218;AN=18;AC=1	GT:DP:PL:AD	0/0:257:.:.	0/0:345:.:.	0/0:373:.:.	0/0:349:.:.	0/0:218:.:.	0/0:252:.:.	0/0:223:.:.	0/0:248:.:.	0/1:398:255,0,255:291,107	C	T	0	1	Potassium inwardly-rectifying channel, subfamily J, member 12, 602323	.	.	.	9027495|9533018|20074522|20019282|7859381	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_PROTEIN_HOMOTETRAMERIZATION;GO_METAL_ION_TRANSPORT;GO_REGULATION_OF_HEART_CONTRACTION;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_PROTEIN_OLIGOMERIZATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MUSCLE_CONTRACTION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_SYSTEM_PROCESS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_POTASSIUM_ION_IMPORT;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_PROTEIN_HOMOOLIGOMERIZATION;GO_MUSCLE_SYSTEM_PROCESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_CARDIAC_CONDUCTION;GO_PROTEIN_TETRAMERIZATION;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POTASSIUM_ION_IMPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_NEURON_PROJECTION;GO_T_TUBULE;GO_SARCOLEMMA;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PDZ_DOMAIN_BINDING;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_INWARD_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_INWARD_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	.	.	.	.	.	.	BP7, PM2
L	17	27030690	rs186007908	C	T	222	PASS	PROCA1	Proline-rich cyclin A1-interacting protein	exonic	NM_001304949,NM_001304951,NM_001304952,NM_001304953,NM_001304954,NM_152465	.	synonymous SNV	PROCA1:NM_001304951:exon2:c.G549A:p.S183S,PROCA1:NM_001304954:exon4:c.G681A:p.S227S,PROCA1:NM_152465:exon4:c.G897A:p.S299S,PROCA1:NM_001304949:exon5:c.G870A:p.S290S,PROCA1:NM_001304952:exon5:c.G903A:p.S301S,PROCA1:NM_001304953:exon5:c.G681A:p.S227S	ENSG00000167525.13,ENST00000439862.7,ENST00000301039.6,ENST00000581289.1	.	17q11.2	.	.	.	.	.	rs186007908	.	.	0.0182724	0.0119	0.00239617	7.7e-05	0.00081885	277218	0.01165995	18868	0.00933126	0.00441696	.	.	.	.	.	.	.	.	.	.	.	-1.886	-4.771	1.310672,12.32	.	.	VDB=0.0224869;SGB=-0.693147;RPB=0.963287;MQB=1.14543e-12;MQSB=0.596348;BQB=0.278626;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=286;DP4=55,42,72,46;MinDP=77;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:94:38,56	0/0:.:100:.	0/0:.:100:.	0/0:.:100:.	0/0:.:101:.	0/0:.:77:.	0/0:.:100:.	0/0:.:100:.	0/1:255,0,255:121:59,62	C	T	0	2	Proline-rich cyclin A1-interacting protein, 617376	.	.	.	15159402	.	.	.	.	.	.	.	Most normal tissues were negative. Hepatocytes in liver, renal tubules and glandular cells in seminal vesicle expressed moderate cytoplasmic immunoreactivity.	http://www.proteinatlas.org/ENSG00000167525-PROCA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 4.0	nuclear membrane; vesicles; cytoskeleton (intermediate filaments)	.	BP7
H*	17	27438781	rs200046806	C	T	222	PASS	MYO18A	Myosin XVIIIA	exonic	NM_001346765,NM_001346766,NM_001346767,NM_001346768,NM_078471,NM_203318	.	missense SNV	MYO18A:NM_001346767:exon16:c.G2699A:p.R900H,MYO18A:NM_001346768:exon16:c.G1325A:p.R442H,MYO18A:NM_078471:exon16:c.G2699A:p.R900H,MYO18A:NM_203318:exon16:c.G2699A:p.R900H,MYO18A:NM_001346766:exon17:c.G2735A:p.R912H,MYO18A:NM_001346765:exon18:c.G2756A:p.R919H	ENSG00000196535.15,ENST00000628822.2,ENST00000533112.5,ENST00000527372.6,ENST00000531253.5,ENST00000530254.6	.	17q11.2	.	.	.	.	.	rs200046806	.	.	0.00166113	0.001	0.000599042	0.0002	0.00023835	276904	0.00259809	18860	0.00174961	0.00088496	.	0.2345	Myosin head, motor domain;P-loop containing nucleoside triphosphate hydrolase	0.001,D	1.0,D	1.0,D	0.999974,D	0.000000,D	.	-0.69,T	19.2175	2.538	7.367	7.945254,35	5.42	0.186723144719	VDB=0.155777;SGB=-0.693146;RPB=0.953729;MQB=3.53935e-13;MQSB=0.96447;BQB=0.827372;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=110;DP4=18,23,21,23;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:85:255,0,255:41,44	C	T	0	1	Myosin XVIIIA, 610067	.	.	.	12761286|23345592|18854160|19006078|16087679	GO_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_VESICLE_ORGANIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_SINGLE_ORGANISM_MEMBRANE_BUDDING;GO_CELL_MOTILITY;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_MEMBRANE_BUDDING;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_LOCOMOTION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_GOLGI_RIBBON_FORMATION;GO_REGULATION_OF_CELL_DEATH;GO_MEMBRANE_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_POSITIVE_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_DNA_METABOLIC_PROCESS;GO_GOLGI_ORGANIZATION	GO_ACTIN_CYTOSKELETON;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_ACTOMYOSIN;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_GOLGI_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_GOLGI_APPARATUS;GO_ORGANELLE_SUBCOMPARTMENT	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_PROTEIN_COMPLEX_BINDING;GO_ADP_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	.	.	.	REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_FGFR1_FUSION_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS	Ubiquitous cytoplasmic and membranous expression, except in glial cells, hepatocytes and stroma cells.	http://www.proteinatlas.org/ENSG00000196535-MYO18A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 14.5	nucleus but not nucleoli; plasma membrane; golgi apparatus	.	PM1, PM2, PP3
L	17	28400135	rs987708403	G	A	222	PASS	EFCAB5	.	exonic	NM_001145053	.	missense SNV	EFCAB5:NM_001145053:exon14:c.G2447A:p.R816H	ENST00000394835.7,ENSG00000176927.15,ENST00000536908.6,ENST00000588978.1,ENST00000423598.6,ENST00000440741.7,ENST00000419434.5	.	17q11.2	.	.	.	.	Score=2080;Name="1858507:AluJr(SINE)"	rs987708403	.	.	.	.	.	.	0.00001725	115928	0.00011161	8960	0.00019433	.	.	-0.2990	.	0.176,T	0.0,B	0.0,B	1,N	.	.	0.96,T	.	-1.864	-0.904	.	.	0.000869688792481	VDB=0.588405;SGB=-0.692831;RPB=0.504086;MQB=6.27356e-06;MQSB=0.906613;BQB=0.088409;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=67;DP4=16,7,14,10;MinDP=23;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:23:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:47:255,0,255:23,24	G	A	0	1	.	.	.	.	.	.	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000176927-EFCAB5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	rectum: 0.6	.	.	BP4, PM2
H	17	32688804	rs61758325	A	C	222	PASS	CCL1	Chemokine, C-C motif, ligand 1	exonic	NM_002981	.	missense SNV	CCL1:NM_002981:exon2:c.T188G:p.I63R	ENST00000225842.3,ENSG00000108702.3	.	17q12	.	.	.	.	.	rs61758325	.	.	0.0199336	0.0248	0.00539137	.	0.00156233	277150	0.02146719	18866	0.02079285	0.02904930	0.0002,0.032	2.2108	CC chemokine, conserved site;Chemokine interleukin-8-like domain	0.001,D	0.97,D	0.994,D	0.996886,D	0.029183,N	.	2.64,T	7.2555	0.990	1.412	3.904535,23.5	3.3	.	VDB=0.628072;SGB=-0.693127;RPB=0.891642;MQB=2.77855e-06;MQSB=0.947968;BQB=0.636036;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=81;DP4=23,9,22,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:48:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:32,33	A	C	0	1	Chemokine, C-C motif, ligand 1, 182281	.	.	.	2212659	GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_MAPK_CASCADE;GO_MYELOID_LEUKOCYTE_MIGRATION;GO_CELLULAR_RESPONSE_TO_INTERLEUKIN_1;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_STEROID_HORMONE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_CORTICOSTEROID;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_LEUKOCYTE_CHEMOTAXIS;GO_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_TAXIS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_CHEMOKINE_MEDIATED_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_INNATE_IMMUNE_RESPONSE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_GRANULOCYTE_MIGRATION;GO_RESPONSE_TO_INTERLEUKIN_1;GO_INFLAMMATORY_RESPONSE;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_LYMPHOCYTE_CHEMOTAXIS;GO_IMMUNE_RESPONSE;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_LYMPHOCYTE_MIGRATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_MONOCYTE_CHEMOTAXIS;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_CELLULAR_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_EXTRACELLULAR_SPACE	GO_CHEMOKINE_ACTIVITY;GO_CCR_CHEMOKINE_RECEPTOR_BINDING;GO_CHEMOKINE_RECEPTOR_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING;GO_CYTOKINE_ACTIVITY;GO_CYTOKINE_RECEPTOR_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_CHEMOKINE_SIGNALING_PATHWAY	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000108702-CCL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	colon: 0.3	.	.	PM1, PP3
L	17	33507623	rs140495399	C	T	222	PASS	UNC45B	UNC45, C. elegans, homolog of, B	exonic	NM_001033576,NM_001267052,NM_001308281,NM_173167	.	synonymous SNV	UNC45B:NM_001308281:exon15:c.C2064T:p.Y688Y,UNC45B:NM_173167:exon17:c.C2307T:p.Y769Y,UNC45B:NM_001033576:exon18:c.C2301T:p.Y767Y,UNC45B:NM_001267052:exon18:c.C2301T:p.Y767Y	ENST00000394570.6,ENST00000268876.9,ENST00000591048.2,ENSG00000141161.11	.	17q12	.	.	.	.	.	rs140495399	.	.	0.0348837	0.0278	0.023762	0.0031	0.00901532	277084	0.02085323	18846	0.02216174	0.01144366	.	0.2309	.	.	.	.	.	.	.	.	.	1.195	2.674	.	4.24	.	VDB=0.0385548;SGB=-0.693054;RPB=0.748161;MQB=5.49807e-09;MQSB=0.412831;BQB=0.236592;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=72;DP4=19,5,14,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:44:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:52:255,0,255:24,28	C	T	0	1	?Cataract 43, 616279 (3), Autosomal dominant	.	.	.	17586488|24549050|12356907	GO_MUSCLE_ORGAN_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_PROTEIN_FOLDING;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CHAPERONE_MEDIATED_PROTEIN_FOLDING;GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE	.	GO_HEAT_SHOCK_PROTEIN_BINDING;GO_HSP90_PROTEIN_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000141161-UNC45B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 3.6	cytoplasm	.	.
L	17	33507673	rs76329788	G	A	222	PASS	UNC45B	UNC45, C. elegans, homolog of, B	exonic	NM_001033576,NM_001267052,NM_001308281,NM_173167	.	missense SNV	UNC45B:NM_001308281:exon15:c.G2114A:p.C705Y,UNC45B:NM_173167:exon17:c.G2357A:p.C786Y,UNC45B:NM_001033576:exon18:c.G2351A:p.C784Y,UNC45B:NM_001267052:exon18:c.G2351A:p.C784Y	ENST00000394570.6,ENST00000268876.9,ENST00000591048.2,ENSG00000141161.11	.	17q12	.	.	.	.	.	rs76329788	.	.	0.0348837	0.0278	0.023762	0.0030	0.00901067	276672	0.02071383	18828	0.02178141	0.01144366	.	0.1024	Armadillo-like helical;Armadillo-type fold	0.002,D	0.997,D	1.0,D	1,D	0.000000,D	3.215,M	0.76,T	17.7336	2.427	9.741	6.298190,29.1	5.2	.	VDB=0.0631518;SGB=-0.689466;RPB=0.809338;MQB=5.72281e-05;MQSB=0.999017;BQB=0.906341;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=52;DP4=9,13,7,9;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/1:38:255,0,255:22,16	G	A	0	1	?Cataract 43, 616279 (3), Autosomal dominant	.	.	.	17586488|24549050|12356907	GO_MUSCLE_ORGAN_DEVELOPMENT;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_PROTEIN_FOLDING;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CHAPERONE_MEDIATED_PROTEIN_FOLDING;GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE	.	GO_HEAT_SHOCK_PROTEIN_BINDING;GO_HSP90_PROTEIN_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000141161-UNC45B/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	prostate: 3.6	cytoplasm	.	PM1, PP2, PP3
L	17	36003420	rs35498905	G	C	222	PASS	DDX52	DEAD box polypeptide 52	exonic	NM_007010	.	synonymous SNV	DDX52:NM_007010:exon1:c.C30G:p.L10L	ENST00000613633.1,ENST00000620209.4,ENST00000615265.1,ENST00000617633.4,ENST00000612255.4,ENSG00000278053.4,ENSG00000277501.1,ENST00000614307.4	CpG: 29	17q12	.	.	.	.	.	rs35498905	.	.	0	.	0.0071885	0.0247	0.02133538	276864	0.00010607	18856	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-4.570	-6.753	.	.	.	VDB=0.0233348;SGB=-0.693147;RPB=0.628225;MQB=6.42087e-09;MQSB=0.195433;BQB=0.998108;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=121;DP4=36,8,32,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:70:.:.	0/0:64:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:44,45	G	C	0	1	DEAD box polypeptide 52, 612500	.	.	.	11124703	GO_RIBOSOME_BIOGENESIS;GO_RRNA_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_NCRNA_METABOLIC_PROCESS;GO_RNA_SECONDARY_STRUCTURE_UNWINDING;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS	GO_NUCLEOLUS	GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_RNA_HELICASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	General nuclear and nucleolar expression. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000278053-DDX52/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 3.5	nucleus; nucleoli	.	BP7
H	17	39203222	rs370086433	G	A	118	PASS	KRTAP2-1	.	exonic	NM_001123387	.	stopgain	KRTAP2-1:NM_001123387:exon1:c.C298T:p.Q100X	ENST00000542137.1,ENSG00000212725.3,ENST00000391419.3	.	17q21.2	.	.	.	.	.	rs370086433	.	.	0.00830565	0.0079	0.00159744	.	0.00068667	160194	0.00910510	11532	0.00660707	0.00797872	.	.	.	.	.	.	0.999605,D	0.226578,U	.	.	15.7563	2.784	1.592	11.676049,38	5.9	.	VDB=0.174361;SGB=-0.683931;RPB=0.946833;MQB=0.0324867;MQSB=0.204584;BQB=0.887215;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=54;DP4=10,20,1,12;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:43:151,0,255:30,13	G	A	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000212725-KRTAP2-1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PP3
L	17	39240560	rs200090467	T	C	222	PASS	KRTAP4-7	.	exonic	NM_033061	.	synonymous SNV	KRTAP4-7:NM_033061:exon1:c.T102C:p.C34C	ENST00000621138.1,ENSG00000240871.5,ENST00000391417.5	.	17q21.2	.	.	Score=903;Name=V$USF_02	Score=0.945624;Name=chr17:39258559	.	rs200090467	.	.	.	.	.	.	0.00162954	272470	0.00202562	18266	0.02791978	0.07600733	.	.	.	.	.	.	.	.	.	.	.	0.130	0.716	.	2.53	.	VDB=0.686595;SGB=-0.693147;RPB=0.729499;MQB=9.28343e-32;MQSB=0.913501;BQB=0.91426;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=273;DP4=66,23,78,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:204:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:131:.:.	0/0:129:.:.	0/0:149:.:.	0/1:194:255,0,255:89,105	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000240871-KRTAP4-7/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	.
L	17	39240577	rs755142071	A	G	220	PASS	KRTAP4-7	.	exonic	NM_033061	.	missense SNV	KRTAP4-7:NM_033061:exon1:c.A119G:p.Y40C	ENST00000621138.1,ENSG00000240871.5,ENST00000391417.5	.	17q21.2	.	.	.	Score=0.945624;Name=chr17:39258559	.	rs755142071	.	.	.	.	.	.	0.00076072	274740	0.00005306	18846	.	.	.	.	.	1.0,T	0.0,B	0.0,B	1,N	0.477557,N	.	5.91,T	5.5941	-0.124	1.035	.	.	0.000883594840156	VDB=0.0129326;SGB=-0.693147;RPB=0.600894;MQB=1.53646e-30;MQSB=0.0569511;BQB=0.0278629;MQ0F=0;ICB=1;HOB=0.5;MQ=37;DP=270;DP4=69,29,73,15;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:204:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:131:.:.	0/0:129:.:.	0/0:149:.:.	0/1:186:253,0,255:98,88	A	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000240871-KRTAP4-7/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4, PM2
H	17	39346600	.	T	TGGGTCCAGCTGCTGCCAGCCTAGCTGA	228	PASS	KRTAP9-1	.	exonic	NM_001190460	.	stopgain	KRTAP9-1:NM_001190460:exon1:c.462_463insGGGTCCAGCTGCTGCCAGCCTAGCTGA:p.C154delinsCGSSCCQPSX	ENSG00000240542.4,ENST00000398470.1,ENST00000634235.1,ENST00000635603.1,ENST00000634358.1	.	17q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.000758123;SGB=-0.693147;MQSB=0.833741;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=199;DP4=15,10,70,49;IDV=2;IMF=0.0210526;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:75:255,.,.:20,.	0/0:55:.:.	0/0:50:.:.	0/0:33:.:.	0/0:72:.:.	0/0:75:.:.	0/0:46:.:.	2/2:69:255,.,.,85,.,0:5,.,64	T	TGGGTCCAGCTGCTGACAGCCTAGCTGA,TGGGTCCAGCTGCTGCCAGCCTAGCTGA	1	0	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000240542-KRTAP9-1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM2
L	17	39406203	rs200182486	C	T	222	PASS	KRTAP9-4	.	exonic	NM_033191	.	synonymous SNV	KRTAP9-4:NM_033191:exon1:c.C231T:p.S77S	ENST00000334109.3,ENSG00000241595.2	.	17q21.2	.	.	Score=827;Name=V$GR_Q6	.	.	rs200182486	.	.	0.013289	0.0109	0.00219649	.	0.00062066	277126	0.00874682	18864	0.00680404	0.01056338	.	.	.	.	.	.	.	.	.	.	.	-1.048	-0.839	.	.	.	VDB=0.0121741;SGB=-0.693139;RPB=0.882152;MQB=2.66487e-05;MQSB=0.178255;BQB=0.984076;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=106;DP4=31,16,20,16;MinDP=53;AN=18;AC=1	GT:DP:PL:AD	0/0:53:.:.	0/0:68:.:.	0/0:91:.:.	0/0:76:.:.	0/0:59:.:.	0/0:77:.:.	0/0:54:.:.	0/0:71:.:.	0/1:83:255,0,255:47,36	C	T	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000241595-KRTAP9-4/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP7
L	17	39594980	rs80116505	C	T	222	PASS	KRT38	Keratin 38	exonic	NM_006771	.	missense SNV	KRT38:NM_006771:exon4:c.G863A:p.R288H	ENST00000246646.3,ENSG00000171360.3	.	17q21.2	.	.	.	Score=0.915654;Name=chr17:39577594	.	rs80116505	.	.	0.0265781	0.0208	0.00519169	0.0008	0.00552743	276982	0.01680271	18866	0.02254178	0.02640845	.	0.1372	.	0.061,T	0.016,B	0.083,B	0.995415,N	0.094366,N	1.82,L	-2.6,D	4.9928	0.078	-0.108	4.124651,23.8	.	.	VDB=0.869976;SGB=-0.693147;RPB=0.984401;MQB=7.32718e-27;MQSB=0.670258;BQB=0.416527;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=260;DP4=57,36,79,34;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:105:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:206:255,0,255:93,113	C	T	0	1	Keratin 38, 604542	.	.	.	10391933|9756910	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000171360-KRT38/tissue	FPKM<0.5 in all tissues <Not detected>	tonsil: 0.2	.	.	.
H	17	40117241	rs191841643	G	A	222	PASS	TTC25	Tetratricopeptide repeat domain-containing protein 25	exonic	NM_031421	.	unknown	UNKNOWN	ENST00000591658.5,ENST00000377540.5,ENSG00000204815.9	.	17q21.2	.	.	.	.	.	rs191841643	.	.	0.0182724	0.0139	0.00299521	.	0.00069093	266306	0.00901848	18074	0.01204819	0.01144366	.	.	.	.	.	.	.	.	.	.	.	-0.179	-0.172	.	.	.	VDB=0.890168;SGB=-0.693021;RPB=0.890666;MQB=1.28583e-06;MQSB=0.997027;BQB=0.958123;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=63;DP4=14,10,17,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:51:255,0,255:24,27	G	A	0	1	Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive	.	.	.	27486780	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000204815-TTC25/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 3.2	.	.	.
L	17	40120250	rs138346889	C	T	222	PASS	CNP	2', 3' cyclic nucleotide 3' phosphohydrolase	exonic	NM_001330216,NM_033133	.	synonymous SNV	CNP:NM_001330216:exon2:c.C108T:p.R36R,CNP:NM_033133:exon2:c.C168T:p.R56R	ENST00000589772.1,ENST00000585452.1,ENST00000393892.7,ENST00000587679.1,ENST00000441615.2,ENST00000393888.1,ENST00000472031.1,ENSG00000173786.16,ENST00000592446.1	CpG: 22	17q21.2	.	.	.	.	.	rs138346889	.	.	0.0215947	0.0218	0.00459265	7.8e-05	0.00355946	277008	0.02221398	18862	0.02118150	0.01848592	.	-0.0059	.	.	.	.	.	.	.	.	.	-3.145	-5.466	1.677008,14.28	.	.	VDB=0.240023;SGB=-0.693147;RPB=0.829228;MQB=3.03566e-17;MQSB=0.965265;BQB=0.420493;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=210;DP4=61,21,54,18;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:154:255,0,255:82,72	C	T	0	1	2', 3' cyclic nucleotide 3' phosphohydrolase, 123830	.	.	.	2903254|11842207|1360194|2167669|12590258|11161808|8392017|8390968|1322358|2836557	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CELLULAR_CATABOLIC_PROCESS;GO_ADULT_BEHAVIOR;GO_CYTOSKELETON_ORGANIZATION;GO_MITOCHONDRIAL_TRANSPORT;GO_CELL_CELL_SIGNALING;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_ADULT_LOCOMOTORY_BEHAVIOR;GO_CYCLIC_NUCLEOTIDE_CATABOLIC_PROCESS;GO_MICROTUBULE_BASED_PROCESS;GO_FOREBRAIN_DEVELOPMENT;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_AGING;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_RESPONSE_TO_BACTERIUM;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_GLIOGENESIS;GO_SUBSTANTIA_NIGRA_DEVELOPMENT;GO_MIDBRAIN_DEVELOPMENT;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_ORGANOPHOSPHATE_CATABOLIC_PROCESS;GO_NEUROGENESIS;GO_SYNAPTIC_SIGNALING;GO_RESPONSE_TO_LIPID;GO_HEAD_DEVELOPMENT;GO_ORGANIC_CYCLIC_COMPOUND_CATABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_LOCOMOTORY_BEHAVIOR;GO_NEURON_DIFFERENTIATION;GO_GLIAL_CELL_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_OLIGODENDROCYTE_DIFFERENTIATION;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_CELL_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_BEHAVIOR;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN	GO_MICROTUBULE_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_ORGANELLE_INNER_MEMBRANE;GO_MICROVILLUS;GO_MYELIN_SHEATH;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_OUTER_MEMBRANE;GO_SUPRAMOLECULAR_FIBER;GO_PSEUDOPODIUM;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_ENVELOPE;GO_PIGMENT_GRANULE;GO_MITOCHONDRIAL_ENVELOPE	GO_CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY;GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_CYCLIC_NUCLEOTIDE_BINDING;GO_RNA_BINDING	.	.	.	.	Highly specific cytoplasmic and membranous expression in glial cells and neuropil.	http://www.proteinatlas.org/ENSG00000173786-CNP/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	kidney: 39.6	nucleus; cytoplasm	.	BP7
H	17	40821603	rs78343439	C	T	222	PASS	PLEKHH3	.	exonic	NM_024927	.	missense SNV	PLEKHH3:NM_024927:exon12:c.G2050A:p.G684S	ENST00000591022.5,ENST00000456950.6,ENST00000293349.10,ENST00000591490.5,ENST00000591196.5,ENST00000591476.5,ENSG00000068137.14	.	17q21.2	.	.	.	.	.	rs78343439	.	.	0.0166113	0.0159	0.00319489	.	0.00142613	275570	0.02071383	18828	0.02487369	0.02473498	.	0.4214	FERM domain	0.054,T	0.967,D	0.999,D	1,D	0.000652,D	1.555,L	.	16.1774	2.465	2.780	5.910234,27.5	4.43	.	VDB=0.895851;SGB=-0.693147;RPB=0.998743;MQB=6.08581e-10;MQSB=0.999858;BQB=0.975461;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=92;DP4=18,10,29,17;MinDP=41;AN=18;AC=1	GT:DP:PL:AD	0/0:41:.:.	0/0:76:.:.	0/0:71:.:.	0/0:72:.:.	0/0:50:.:.	0/0:51:.:.	0/0:46:.:.	0/0:72:.:.	0/1:74:255,0,255:28,46	C	T	0	1	.	.	.	.	.	.	GO_CYTOSKELETON;GO_EXTRACELLULAR_SPACE	.	.	.	.	.	Epididymis displayed strong cytoplasmic staining. Gastrointestinal tract, gall bladder, adrenocortical cells, renal tubules, thyroid, prostate and squamous epithelia of tonsil were moderately positive. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000068137-PLEKHH3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	pancreas: 6.6	golgi apparatus	.	PM1, PP3
H	17	40823073	rs201650387	C	G	222	PASS	PLEKHH3	.	exonic	NM_024927	.	missense SNV	PLEKHH3:NM_024927:exon9:c.G1360C:p.A454P	ENST00000591022.5,ENST00000456950.6,ENST00000293349.10,ENST00000591490.5,ENST00000591196.5,ENSG00000068137.14	CpG: 122	17q21.2	.	.	Score=804;Name=V$HEN1_01	.	.	rs201650387	.	.	0.0149502	0.0149	0.00299521	.	0.00103015	271806	0.01512031	18452	0.02001555	0.02112676	.	0.3175	Band 4.1 domain;FERM domain;Ras-association	0.224,T	0.001,B	0.0,B	1,N	0.125108,N	1.355,L	-0.88,T	6.17	0.216	0.554	2.002737,16.23	.	.	VDB=0.000592533;SGB=-0.693147;RPB=0.999767;MQB=1.23764e-16;MQSB=0.995311;BQB=0.989421;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=174;DP4=33,21,40,24;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/1:118:255,0,255:54,64	C	G	0	1	.	.	.	.	.	.	GO_CYTOSKELETON;GO_EXTRACELLULAR_SPACE	.	.	.	.	.	Epididymis displayed strong cytoplasmic staining. Gastrointestinal tract, gall bladder, adrenocortical cells, renal tubules, thyroid, prostate and squamous epithelia of tonsil were moderately positive. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000068137-PLEKHH3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	pancreas: 6.6	golgi apparatus	.	PM1
H-	17	41362067	.	A	G	173	PASS	NBR1	Neighbor of BRCA1 gene 1 (membrane component, chromosome 17, surface marker 2)	exonic	NM_005899,NM_031862	.	missense SNV	NBR1:NM_005899:exon21:c.A2875G:p.N959D,NBR1:NM_031862:exon21:c.A2875G:p.N959D	ENST00000590996.5,ENSG00000188554.13,ENST00000341165.10	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	0.00003231	30954	0.00061728	1620	0.00019440	.	.	.	.	0.013,D	0.14,B	0.536,P	0.999825,D	.	2.005,M	1.4,T	12.2371	1.078	5.368	2.147398,17.16	4.9	0.0115067270708	VDB=0.346864;SGB=-0.670168;RPB=0.949464;MQB=0.10189;MQSB=0.598231;BQB=0.979219;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=29;DP4=6,8,3,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:24:206,0,255:14,10	A	G	0	1	Neighbor of BRCA1 gene 1 (membrane component, chromosome 17, surface marker 2), 166945	.	.	.	7997258|8700509|8069304|25612572|15802564	GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MACROAUTOPHAGY;GO_PROTEIN_OLIGOMERIZATION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT;GO_AUTOPHAGY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_OSSIFICATION;GO_NEGATIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_OSSIFICATION	GO_PRE_AUTOPHAGOSOMAL_STRUCTURE;GO_AUTOPHAGOSOME;GO_VACUOLE;GO_M_BAND;GO_CONTRACTILE_FIBER;GO_INTRACELLULAR_VESICLE;GO_LATE_ENDOSOME;GO_MITOCHONDRION;GO_LYTIC_VACUOLE;GO_A_BAND;GO_ENDOSOME	GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_BINDING;GO_KINASE_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression at variable levels. Highest levels in gastrointestinal tract, testis and skeletal muscle.	http://www.proteinatlas.org/ENSG00000188554-NBR1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 94.6	.	.	PM2
L	17	42164866	.	C	G	222	PASS	HDAC5	Histone deacetylase 5	exonic	NM_001015053,NM_005474	.	missense SNV	HDAC5:NM_001015053:exon13:c.G1801C:p.D601H,HDAC5:NM_005474:exon13:c.G1798C:p.D600H	ENST00000225983.10,ENST00000586802.5,ENST00000336057.9,ENST00000592385.5,ENSG00000108840.15	.	17q21.31	.	.	.	.	Score=237;Name="1888935:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6625	.	0.046,D	0.146,B	0.842,P	0.887563,D	0.005717,N	1.735,L	3.22,T	10.4214	1.311	0.947	2.524942,19.63	2.43	0.0119807772974	VDB=0.0921269;SGB=-0.693147;RPB=0.82716;MQB=2.84167e-26;MQSB=0.601128;BQB=0.821099;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=261;DP4=74,19,93,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:103:.:.	0/0:101:.:.	0/0:101:.:.	0/1:205:255,0,255:93,112	C	G	0	1	Histone deacetylase 5, 605315	.	.	.	10220385|11018260|11081517|9628581|17786239|9610721	GO_LEUKOCYTE_ACTIVATION;GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_PROTEIN_BINDING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_COCAINE;GO_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_MACROMOLECULE_DEACYLATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_LEUKOCYTE_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_DEFENSE_RESPONSE;GO_B_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_ALKALOID;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_ACTIVATION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_BACTERIUM;GO_RESPONSE_TO_INSULIN;GO_B_CELL_ACTIVATION;GO_CHROMATIN_MODIFICATION;GO_NEGATIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS;GO_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_COVALENT_CHROMATIN_MODIFICATION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_CHROMATIN_ORGANIZATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_INFLAMMATORY_RESPONSE;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_ACETYLATION;GO_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_RESPONSE_TO_LIPID;GO_GENE_SILENCING;GO_REGULATION_OF_MYOTUBE_DIFFERENTIATION;GO_RESPONSE_TO_DRUG;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CHROMATIN_SILENCING;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEGATIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CHROMATIN_REMODELING;GO_REGULATION_OF_SPROUTING_ANGIOGENESIS;GO_REGULATION_OF_BINDING;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_LYMPHOCYTE_DIFFERENTIATION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_HISTONE_H3_DEACETYLATION;GO_REGULATION_OF_HISTONE_H3_K9_ACETYLATION;GO_RESPONSE_TO_ACTIVITY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT	GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_GOLGI_APPARATUS;GO_HISTONE_DEACETYLASE_COMPLEX	GO_PROTEIN_KINASE_C_BINDING;GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_CORE_PROMOTER_BINDING;GO_KINASE_BINDING;GO_HISTONE_DEACETYLASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_NAD_DEPENDENT_PROTEIN_DEACETYLASE_ACTIVITY;GO_ENZYME_BINDING;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_CHROMATIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_HISTONE_DEACETYLASE_ACTIVITY_H3_K14_SPECIFIC_	.	PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_PGC1A_PATHWAY	REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH	Ubiquitous cytoplasmic expression with additional nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000108840-HDAC5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 32.8	nucleus but not nucleoli; cytoplasm; golgi apparatus	.	PM2
L	17	42267949	rs9895154	G	A	222	PASS	TMUB2	.	exonic	NM_001076674,NM_001330235,NM_024107,NM_177441	.	missense SNV	TMUB2:NM_024107:exon3:c.G623A:p.R208H,TMUB2:NM_177441:exon3:c.G623A:p.R208H,TMUB2:NM_001076674:exon4:c.G683A:p.R228H,TMUB2:NM_001330235:exon6:c.G512A:p.R171H	ENST00000538716.6,ENST00000589785.1,ENST00000589184.5,ENST00000587172.1,ENST00000587630.1,ENST00000587989.1,ENST00000357984.7,ENST00000590235.5,ENST00000446571.7,ENSG00000168591.15,ENST00000592825.1,ENST00000319511.6,ENST00000587326.1,ENST00000588413.5	.	17q21.31	.	.	.	.	.	rs9895154	.	.	0.0481728	0.0476	0.0459265	0.0405	0.01926505	277134	0.05172779	18868	0.04819277	0.04577465	.	.	Ubiquitin-like;Ubiquitin-related domain	0.044,D	0.413,B	0.808,P	1,D	0.003327,N	1.67,L	-0.78,T	14.0486	1.433	2.255	4.497123,24.3	4.79	.	VDB=0.887447;SGB=-0.693147;RPB=0.336616;MQB=1.08518e-29;MQSB=0.693301;BQB=0.991484;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=584;DP4=172,61,169,55;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:216:255,0,255:113,103	0/1:241:255,0,255:120,121	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Most of the normal tissues displayed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000168591-TMUB2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 29.7	cytoplasm; vesicles	.	BS1, PM1
H	17	43314640	rs77496285	C	T	222	PASS	FMNL1	.	splicing	NM_005892	NM_005892:exon8:c.724-8C>T	.	.	ENSG00000184922.13,ENST00000587856.1,ENST00000328118.7,ENST00000592006.5,ENST00000331495.7	.	17q21.31	.	.	.	.	.	rs77496285	.	.	0.0348837	0.0268	0.00958466	0.0003	0.00581660	277138	0.02670906	18870	0.02001555	0.02028219	0.0001,0.004	0.4329	.	.	.	.	.	.	.	.	.	-0.079	0.815	.	.	.	VDB=0.73281;SGB=-0.693145;RPB=0.814617;MQB=7.85212e-10;MQSB=0.756089;BQB=0.142273;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=115;DP4=39,5,33,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:54:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:44,40	C	T	0	1	.	.	.	.	.	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_MOTILITY;GO_LOCOMOTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_SUBSTRATE_DEPENDENT_CELL_MIGRATION;GO_REGULATION_OF_CELL_SHAPE;GO_CORTICAL_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_PHAGOCYTIC_VESICLE;GO_CYTOPLASMIC_REGION;GO_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_CELL_CORTEX;GO_CELL_PROJECTION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_RHO_GTPASE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_GTPASE_ACTIVATING_PROTEIN_BINDING;GO_RAC_GTPASE_BINDING;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression in lymphoid tissues.	http://www.proteinatlas.org/ENSG00000184922-FMNL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 144.1	cytoplasm	.	.
H	17	44115984	.	G	A	222	PASS	KANSL1	KAT8 regulatory NSL complex subunit 1	exonic	NM_001193465,NM_001193466,NM_015443	.	missense SNV	KANSL1:NM_001193466:exon10:c.C2461T:p.P821S,KANSL1:NM_015443:exon10:c.C2461T:p.P821S,KANSL1:NM_001193465:exon11:c.C2461T:p.P821S	ENST00000576137.2,ENST00000639150.1,ENST00000640636.1,ENST00000639467.1,ENST00000639531.1,ENST00000576870.5,ENST00000574590.6,ENST00000262419.10,ENSG00000120071.13,ENST00000572218.5,ENST00000573286.2,ENST00000432791.6,ENST00000575318.6,ENST00000572904.6,ENST00000638275.1	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0691	.	0.102,T	0.998,D	1.0,D	0.999859,D	0.000000,D	1.525,L	1.78,T	17.2897	2.861	6.142	3.457811,23.0	6.03	0.0129973198172	VDB=0.754029;SGB=-0.693147;RPB=0.941125;MQB=6.35493e-15;MQSB=0.727528;BQB=0.906252;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=130;DP4=37,9,37,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:53:.:.	0/0:50:.:.	0/0:50:.:.	0/0:53:.:.	0/0:50:.:.	0/1:96:255,0,255:46,50	G	A	0	1	Koolen-De Vries syndrome, 610443 (3), Autosomal dominant	.	.	.	22544363|20551180|10574462|16227571|22544367	.	.	.	.	.	.	.	Cytoplasmic and nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000120071-KANSL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 35.0	nucleus; cytoplasm; cytoskeleton (actin filaments)	.	BP1, PM2
L	17	46620862	rs560031603	G	A	222	PASS	HOXB2	Homeo box-B2	exonic	NM_002145	.	synonymous SNV	HOXB2:NM_002145:exon2:c.C639T:p.A213A	ENSG00000173917.10,ENST00000571287.1,ENST00000330070.5	CpG: 84	17q21.32	.	.	Score=773;Name=V$MYOGNF1_01	.	.	rs560031603	.	.	0.00166113	0.001	0.000399361	.	0.00020711	270394	0.00160239	18722	0.00077760	.	.	.	.	.	.	.	.	.	.	.	.	-0.135	0.039	.	.	.	VDB=0.736216;SGB=-0.693147;RPB=0.649102;MQB=1.2303e-13;MQSB=0.722034;BQB=0.999891;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=160;DP4=37,18,57,14;MinDP=57;AN=18;AC=1	GT:DP:PL:AD	0/0:57:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:71:.:.	0/0:100:.:.	0/0:70:.:.	0/0:100:.:.	0/1:126:255,0,255:55,71	G	A	0	1	Homeo box-B2, 142967	.	.	.	9012503|10230789|7753831|7876223|16079151	GO_HINDBRAIN_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_PROCESS;GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_CRANIAL_NERVE_MORPHOGENESIS;GO_CRANIAL_NERVE_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_ARRANGEMENT;GO_DORSAL_VENTRAL_PATTERN_FORMATION;GO_EMBRYO_DEVELOPMENT;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIAL_SHEET;GO_ORGAN_MORPHOGENESIS;GO_NERVE_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_SYSTEM_PROCESS;GO_HEAD_DEVELOPMENT;GO_AUTONOMIC_NERVOUS_SYSTEM_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_PARASYMPATHETIC_NERVOUS_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_SKELETAL_SYSTEM_MORPHOGENESIS;GO_TISSUE_DEVELOPMENT	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000173917-HOXB2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 14.9	nucleus	.	BP7, PM2
L	17	56833484	.	A	ACCCGAC	222	PASS	PPM1E	.	exonic	NM_014906	.	nonframeshift insertion	PPM1E:NM_014906:exon1:c.126_127insCCCGAC:p.E42delinsEPD	ENSG00000175175.5,ENST00000308249.3	CpG: 85	17q22	.	.	Score=804;Name=V$IRF7_01	.	Score=426;Name="1919183:(CCCGAA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00471884	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00422724;SGB=-0.693147;MQSB=0.973147;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=375;DP4=82,78,64,74;IDV=2;IMF=0.00533333;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:204:.:.	0/0:101:.:.	0/0:102:.:.	0/0:104:.:.	0/0:101:.:.	0/0:102:.:.	0/1:298:255,0,255:160,138	A	ACCCGAC	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_DRUG;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_RESPONSE_TO_DRUG	GO_MITOCHONDRION;GO_NUCLEOLUS	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic and nuclear expression. Highest levels in gastrointestinal tract and neurons.	http://www.proteinatlas.org/ENSG00000175175-PPM1E/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	fallopian tube: 1.6	nucleoli; nucleus	.	BP3, PM2
H	17	58946051	rs188031327	A	G	217	PASS	BCAS3	.	splicing	NM_001099432,NM_001320470,NM_001330413,NM_001330414,NM_017679	NM_001099432:exon8:c.584+7A>G;NM_001320470:exon8:c.584+7A>G;NM_001330413:exon8:c.584+7A>G;NM_001330414:exon8:c.584+7A>G;NM_017679:exon8:c.584+7A>G	.	.	ENST00000586241.1,ENST00000589222.5,ENST00000407086.7,ENSG00000141376.22,ENST00000592848.5,ENST00000390652.9,ENST00000588462.5,ENST00000408905.7	.	17q23.2	.	.	.	.	.	rs188031327	.	.	0.0215947	0.0179	0.00419329	0.0002	0.00265110	237260	0.01843467	15460	0.02312476	0.02296820	0.0001,0.002	-0.1698	.	.	.	.	.	.	.	.	.	-0.154	0.215	.	.	.	VDB=0.825676;SGB=-0.683931;RPB=0.71158;MQB=0.000246613;MQSB=0.974798;BQB=0.71158;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=34;DP4=9,5,8,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:29:.:.	0/1:27:250,0,255:14,13	A	G	0	1	.	.	.	.	.	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_NEGATIVE_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_MATRIX_ADHESION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_RESPONSE_TO_ESTROGEN;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_TUBE_DEVELOPMENT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_TUBE_FORMATION;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_CELLULAR_RESPONSE_TO_ESTROGEN_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_TUBE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_ANGIOGENESIS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_FILOPODIUM_ASSEMBLY;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_STARVATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_GOLGI_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_MICROTUBULE_CYTOSKELETON;GO_CHROMATIN;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_TRANSCRIPTIONALLY_ACTIVE_CHROMATIN;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_NUCLEOLUS;GO_CYTOPLASMIC_MICROTUBULE;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_HISTONE_BINDING;GO_HORMONE_RECEPTOR_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_BETA_TUBULIN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_TUBULIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_CHROMATIN_BINDING;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Most of the normal cells displayed moderate nuclear positivity with additional cytoplasmic staining in some of the tissues. A fraction of neuronal cells was strongly stained. Myocytes and adipocytes were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000141376-BCAS3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 16.1	nucleoli	.	.
L	17	60522242	.	G	A	222	PASS	METTL2A	.	exonic	NM_181725	.	missense SNV	METTL2A:NM_181725:exon7:c.G854A:p.G285D	ENST00000333483.14,ENST00000616852.1,ENST00000311506.9,ENSG00000087995.15	.	17q23.2	.	.	Score=857;Name=V$SREBP1_02	Score=0.970671;Name=chr7:128104349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5162	S-adenosyl-L-methionine-dependent methyltransferase	0.0,D	0.994,D	0.998,D	1,D	0.000000,D	3.29,M	1.69,T	16.4868	2.309	9.333	5.641941,26.6	4.62	0.0543771494093	VDB=0.000272246;SGB=-0.693132;RPB=0.647227;MQB=6.9959e-09;MQSB=0.202786;BQB=0.77396;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=105;DP4=23,17,16,18;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/1:74:255,0,255:40,34	G	A	0	1	.	.	.	.	.	GO_TRNA_METABOLIC_PROCESS;GO_RNA_METHYLATION;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_NCRNA_METABOLIC_PROCESS;GO_TRNA_METHYLATION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_TRNA_PROCESSING;GO_TRNA_MODIFICATION	.	GO_RNA_METHYLTRANSFERASE_ACTIVITY;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_TRNA_METHYLTRANSFERASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000087995-METTL2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 5.5	.	.	PM1, PM2, PP3
L	17	60749086	rs141657044	C	T	222	PASS	MRC2	Mannose receptor, C-type, 2	exonic	NM_006039	.	synonymous SNV	MRC2:NM_006039:exon7:c.C1194T:p.A398A	ENST00000303375.9,ENSG00000011028.13,ENST00000584265.1	.	17q23.2	.	.	Score=890;Name=V$AP2_Q6	.	.	rs141657044	.	.	0.013289	0.0089	0.00179712	0.0005	0.00050714	276056	0.00641706	18856	0.00174893	0.00529101	.	0.3357	.	.	.	.	.	.	.	.	.	-4.409	-5.633	1.927565,15.76	.	.	VDB=0.559706;SGB=-0.692976;RPB=0.295199;MQB=2.64867e-07;MQSB=0.451786;BQB=0.996125;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=73;DP4=19,12,15,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:51:.:.	0/1:57:255,0,255:31,26	C	T	0	1	Mannose receptor, C-type, 2, 612264	.	.	.	10636902|12399458|12068012|9734811|10683150|17974964|12972549	GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_OSTEOBLAST_DIFFERENTIATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_OSSIFICATION;GO_ENDOCYTOSIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_CELL_JUNCTION;GO_CELL_SUBSTRATE_JUNCTION;GO_ANCHORING_JUNCTION	GO_CARBOHYDRATE_BINDING;GO_COLLAGEN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	Cytoplasmic expression at variable levels in all tissues.	http://www.proteinatlas.org/ENSG00000011028-MRC2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	gallbladder: 23.8	.	.	BP7
L-	17	61620942	rs183418801	C	T	222	PASS	KCNH6	Potassium channel, voltage-gated, subfamily H, member 6	exonic	NM_001278919,NM_001278920,NM_030779,NM_173092	.	synonymous SNV	KCNH6:NM_001278919:exon10:c.C2154T:p.A718A,KCNH6:NM_001278920:exon10:c.C1785T:p.A595A,KCNH6:NM_030779:exon10:c.C2154T:p.A718A,KCNH6:NM_173092:exon11:c.C1995T:p.A665A	ENST00000456941.6,ENST00000583023.1,ENSG00000173826.14,ENST00000581784.5,ENST00000314672.9,ENST00000583465.1	.	17q23.3	.	.	.	.	.	rs183418801	.	.	0.00996678	0.0079	0.00159744	.	0.00070850	276642	0.01002015	18862	0.00621842	0.00618375	.	-0.1775	.	.	.	.	.	.	.	.	.	-0.787	-2.233	2.573171,19.94	.	.	VDB=7.12375e-05;SGB=-0.693147;RPB=0.329199;MQB=3.79993e-14;MQSB=0.844191;BQB=0.842731;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=167;DP4=50,15,40,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:51:.:.	0/0:50:.:.	0/0:54:.:.	0/0:101:.:.	0/1:122:255,0,255:65,56	C	T	0	1	Potassium channel, voltage-gated, subfamily H, member 6, 608168	.	.	.	12634931|14515244	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	Normal tissues displayed moderate cytoplasmic staining, with a granular pattern. The gastrointestinal tract, gall bladder, thyroid, fallopian tube, cervix and seminal vesicle showed strong immunoreactivity.	http://www.proteinatlas.org/ENSG00000173826-KCNH6/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	duodenum: 1.5	.	.	BP7
L	17	61903419	rs114089669	C	T	135	PASS	FTSJ3	.	exonic	NM_017647	.	synonymous SNV	FTSJ3:NM_017647:exon5:c.G297A:p.R99R	ENSG00000108592.16,ENST00000580272.5,ENST00000581209.5,ENST00000579569.5,ENST00000580290.2,ENST00000584193.5,ENST00000427159.6,ENST00000577263.5	.	17q23.3	.	.	.	.	.	rs114089669	.	.	0.013289	0.0129	0.00299521	.	0.00078434	276664	0.01102980	18858	0.01457443	0.01499118	.	0.7902	.	.	.	.	.	.	.	.	.	0.268	0.429	1.858316,15.33	.	.	VDB=0.0646093;SGB=-0.692352;RPB=0.490404;MQB=0.933359;MQSB=1;BQB=0.982906;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=30;DP4=6,1,21,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:11:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:28:169,0,114:7,21	C	T	0	1	.	.	.	.	.	GO_RIBOSOME_BIOGENESIS;GO_RRNA_METABOLIC_PROCESS;GO_RNA_METHYLATION;GO_RNA_PROCESSING;GO_NCRNA_PROCESSING;GO_RNA_MODIFICATION;GO_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA_;GO_MATURATION_OF_LSU_RRNA;GO_NCRNA_METABOLIC_PROCESS;GO_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS;GO_MATURATION_OF_5_8S_RRNA;GO_RRNA_MODIFICATION;GO_METHYLATION;GO_MACROMOLECULE_METHYLATION;GO_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS;GO_RRNA_METHYLATION	GO_PRERIBOSOME;GO_PRERIBOSOME_LARGE_SUBUNIT_PRECURSOR;GO_NUCLEOLUS;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_RNA_METHYLTRANSFERASE_ACTIVITY;GO_RRNA_METHYLTRANSFERASE_ACTIVITY;GO_O_METHYLTRANSFERASE_ACTIVITY;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_POLY_A_RNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_RNA_BINDING	.	.	.	.	General nucleolar expression.	http://www.proteinatlas.org/ENSG00000108592-FTSJ3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 19.9	nucleoli	.	BP7
H	17	63957694	rs77905043	G	C	225	PASS	CEP112	.	exonic	NM_001199165,NM_001302891	.	missense SNV	CEP112:NM_001302891:exon16:c.C1633G:p.R545G,CEP112:NM_001199165:exon18:c.C1759G:p.R587G	ENST00000392769.6,ENSG00000154240.16,ENST00000537949.5,ENST00000535342.6	.	17q24.1	.	.	.	.	.	rs77905043	.	.	0.0498339	0.0486	0.00978435	.	0.00382498	276864	0.05540813	18842	0.04547221	0.04225352	.	-0.1365	.	0.002,D	0.83,P	0.99,D	0.782155,D	0.000100,D	2.545,M	2.16,T	15.5959	1.224	3.553	4.903532,24.9	4.36	.	VDB=0.0243383;SGB=-0.693147;MQSB=0.638243;MQ0F=0;MQ=46;RPB=0.866212;MQB=3.28552e-07;BQB=0.594626;ICB=1;HOB=0.5;DP=117;DP4=7,12,29,41;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	1/1:48:255,144,0:0,48	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:41:255,0,255:19,22	G	C	1	1	.	.	.	.	.	GO_PROTEIN_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_SYNAPSE	GO_MICROTUBULE_CYTOSKELETON;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SYNAPSE;GO_INHIBITORY_SYNAPSE;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000154240-CEP112/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	endometrium: 8.9	golgi apparatus; nucleus but not nucleoli	.	BS1, PP3
L	17	65850501	rs187105541	A	G	222	PASS	BPTF	Bromodomain PHD finger transcription factor	exonic	NM_004459,NM_182641	.	synonymous SNV	BPTF:NM_004459:exon2:c.A1059G:p.P353P,BPTF:NM_182641:exon2:c.A1059G:p.P353P	ENST00000321892.8,ENST00000544778.6,ENST00000424123.7,ENST00000306378.10,ENST00000335221.9,ENSG00000171634.16	.	17q24.2	.	.	.	.	.	rs187105541	.	.	0.00830565	0.0069	0.00139776	.	0.00030662	277212	0.00418698	18868	0.00194326	0.00176056	.	0.0206	.	.	.	.	.	.	.	.	.	-3.473	-2.182	.	.	.	VDB=0.838067;SGB=-0.693054;RPB=0.579371;MQB=1.84355e-09;MQSB=0.99397;BQB=0.847951;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=84;DP4=25,16,16,12;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:69:255,0,255:41,28	A	G	0	1	Bromodomain PHD finger transcription factor, 601819	.	.	.	7621746|8975731|10662542|16728978|28942966|16728976|11583616|8950167	GO_CHROMOSOME_ORGANIZATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CHROMATIN_MODIFICATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CHROMATIN_ORGANIZATION;GO_ENDODERM_DEVELOPMENT;GO_HEAD_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PLACENTA_DEVELOPMENT;GO_CHROMATIN_REMODELING;GO_REPRODUCTION;GO_PATTERN_SPECIFICATION_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSITION_METAL_ION_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ATPASE_ACTIVITY	.	.	.	.	Strong cytoplasmic positivity was seen in Paneth cells of intestinal tract, respiratory epithelia, gall bladder, subsets of cells in seminiferous ducts and adrenal cortex. Salivary ductal cells, hepatocytes, placental trophoblasts, thyroid, neuronal cells of CNS were moderately stained. Remaining normal tissues were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000171634-BPTF/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 35.3	nucleus but not nucleoli	.	BP7
H	17	65955761	.	T	TCCAGCCCCA	220	PASS	BPTF	Bromodomain PHD finger transcription factor	exonic	NM_004459,NM_182641	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8031_8032insCCAGCCCCA:p.P2677delinsPPAP,BPTF:NM_004459:exon26:c.7980_7981insCCAGCCCCA:p.P2660delinsPPAP	ENST00000306378.10,ENST00000321892.8,ENST00000424123.7,ENSG00000171634.16,ENST00000342579.7,ENST00000580465.5,ENST00000581258.5	.	17q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00174893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.267696;SGB=-0.693136;MQSB=0.183803;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=70;DP4=3,7,5,30;IDV=2;IMF=0.0285714;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:27:.:.	0/0:50:.:.	0/0:32:.:.	0/0:34:.:.	0/0:47:.:.	0/0:23:.:.	0/0:10:.:.	0/0:16:.:.	0/1:45:255,0,97:10,35	T	TCCAGCCCCA	0	1	Bromodomain PHD finger transcription factor, 601819	.	.	.	7621746|8975731|10662542|16728978|28942966|16728976|11583616|8950167	GO_CHROMOSOME_ORGANIZATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CHROMATIN_MODIFICATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CHROMATIN_ORGANIZATION;GO_ENDODERM_DEVELOPMENT;GO_HEAD_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PLACENTA_DEVELOPMENT;GO_CHROMATIN_REMODELING;GO_REPRODUCTION;GO_PATTERN_SPECIFICATION_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSITION_METAL_ION_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ATPASE_ACTIVITY	.	.	.	.	Strong cytoplasmic positivity was seen in Paneth cells of intestinal tract, respiratory epithelia, gall bladder, subsets of cells in seminiferous ducts and adrenal cortex. Salivary ductal cells, hepatocytes, placental trophoblasts, thyroid, neuronal cells of CNS were moderately stained. Remaining normal tissues were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000171634-BPTF/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 35.3	nucleus but not nucleoli	.	PM2, PM4
H	17	65955770	.	T	TCCAGCCCCA	220	PASS	BPTF	Bromodomain PHD finger transcription factor	exonic	NM_004459,NM_182641	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8040_8041insCCAGCCCCA:p.P2680delinsPPAP,BPTF:NM_004459:exon26:c.7989_7990insCCAGCCCCA:p.P2663delinsPPAP	ENST00000306378.10,ENST00000321892.8,ENSG00000171634.16,ENST00000424123.7,ENST00000581258.5,ENST00000580465.5,ENST00000342579.7	.	17q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00349786	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0929394;SGB=-0.676189;MQSB=0.907659;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=188;DP4=23,30,15,64;IDV=6;IMF=0.084507;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:23:.:.	0/0:50:.:.	0/0:32:.:.	0/1:45:218,0,255,.,.,.:34,11,.	0/0:42:.:.	0/0:37:255,.,.:8,.	0/0:10:.:.	0/0:16:.:.	0/1:50:255,0,93,.,.,.:11,39,.	T	TCCAGCCCCA,TCCAGCCCCG	0	2	Bromodomain PHD finger transcription factor, 601819	.	.	.	7621746|8975731|10662542|16728978|28942966|16728976|11583616|8950167	GO_CHROMOSOME_ORGANIZATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CHROMATIN_MODIFICATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CHROMATIN_ORGANIZATION;GO_ENDODERM_DEVELOPMENT;GO_HEAD_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PLACENTA_DEVELOPMENT;GO_CHROMATIN_REMODELING;GO_REPRODUCTION;GO_PATTERN_SPECIFICATION_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSITION_METAL_ION_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ATPASE_ACTIVITY	.	.	.	.	Strong cytoplasmic positivity was seen in Paneth cells of intestinal tract, respiratory epithelia, gall bladder, subsets of cells in seminiferous ducts and adrenal cortex. Salivary ductal cells, hepatocytes, placental trophoblasts, thyroid, neuronal cells of CNS were moderately stained. Remaining normal tissues were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000171634-BPTF/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 35.3	nucleus but not nucleoli	.	PM2, PM4
H	17	65955779	.	T	TCCCGCCCCA	222	PASS	BPTF	Bromodomain PHD finger transcription factor	exonic	NM_004459,NM_182641	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8049_8050insCCCGCCCCA:p.P2683delinsPPAP,BPTF:NM_004459:exon26:c.7998_7999insCCCGCCCCA:p.P2666delinsPPAP	ENSG00000171634.16,ENST00000424123.7,ENST00000581258.5,ENST00000342579.7,ENST00000580465.5,ENST00000306378.10,ENST00000321892.8	.	17q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.777128;SGB=-0.693021;MQSB=0.505628;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=70;DP4=7,7,1,26;IDV=3;IMF=0.0428571;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:23:.:.	0/0:50:.:.	0/0:32:.:.	0/0:36:.:.	0/0:42:.:.	0/0:22:.:.	0/0:10:.:.	0/0:16:.:.	0/1:41:255,0,255:14,27	T	TCCCGCCCCA	0	1	Bromodomain PHD finger transcription factor, 601819	.	.	.	7621746|8975731|10662542|16728978|28942966|16728976|11583616|8950167	GO_CHROMOSOME_ORGANIZATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_WOUNDING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CHROMATIN_MODIFICATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CHROMATIN_ORGANIZATION;GO_ENDODERM_DEVELOPMENT;GO_HEAD_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_PLACENTA_DEVELOPMENT;GO_CHROMATIN_REMODELING;GO_REPRODUCTION;GO_PATTERN_SPECIFICATION_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGIONALIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_NEURON_PART;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_TRANSITION_METAL_ION_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ATPASE_ACTIVITY	.	.	.	.	Strong cytoplasmic positivity was seen in Paneth cells of intestinal tract, respiratory epithelia, gall bladder, subsets of cells in seminiferous ducts and adrenal cortex. Salivary ductal cells, hepatocytes, placental trophoblasts, thyroid, neuronal cells of CNS were moderately stained. Remaining normal tissues were negative or weakly stained.	http://www.proteinatlas.org/ENSG00000171634-BPTF/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 35.3	nucleus but not nucleoli	.	PM2, PM4
L	17	68128561	.	T	C	222	PASS	KCNJ16	Potassium channel, inwardly rectifying, subfamily J, member 16	exonic	NM_001270422,NM_001291622,NM_001291623,NM_001291624,NM_001291625,NM_018658,NM_170741,NM_170742	.	synonymous SNV	KCNJ16:NM_001291623:exon3:c.T438C:p.C146C,KCNJ16:NM_001291624:exon4:c.T333C:p.C111C,KCNJ16:NM_170741:exon4:c.T438C:p.C146C,KCNJ16:NM_170742:exon4:c.T438C:p.C146C,KCNJ16:NM_001291625:exon5:c.T333C:p.C111C,KCNJ16:NM_018658:exon5:c.T438C:p.C146C,KCNJ16:NM_001270422:exon6:c.T333C:p.C111C,KCNJ16:NM_001291622:exon6:c.T438C:p.C146C	ENST00000586462.1,ENSG00000153822.13,ENST00000585558.5,ENST00000392670.5,ENST00000589377.1,ENST00000283936.5,ENST00000615244.4,ENST00000392671.5	.	17q24.3	.	.	.	.	.	.	.	.	.	.	.	.	0.00001082	277160	0.00015908	18858	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	-1.942	-1.286	.	.	.	VDB=0.495433;SGB=-0.692976;RPB=0.809937;MQB=4.09621e-10;MQSB=0.941686;BQB=0.734255;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=82;DP4=22,16,15,11;MinDP=34;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:34:.:.	0/0:50:.:.	0/1:64:255,0,255:38,26	T	C	0	1	Potassium channel, inwardly rectifying, subfamily J, member 16, 605722	.	.	.	21047793|11240146|11060447|11988170|10856114	GO_POTASSIUM_ION_TRANSPORT;GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POTASSIUM_ION_IMPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POTASSIUM_CHANNEL_COMPLEX;GO_CATION_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_PLASMA_MEMBRANE_REGION;GO_MEMBRANE_REGION;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_POTASSIUM_CHANNEL_ACTIVITY;GO_INWARD_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000153822-KCNJ16/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	gallbladder: 17.8	.	.	BP7, PM2
H	17	72733253	rs558750564	C	G	222	PASS	RAB37	Pas-associated protein RAB37	exonic	NM_001163989	.	missense SNV	RAB37:NM_001163989:exon1:c.C105G:p.S35R	ENST00000402449.8,ENSG00000172794.19,ENST00000392617.7,ENST00000392614.8,ENST00000528438.5,ENST00000392615.9,ENST00000340415.7	CpG: 72	17q25.1	.	.	.	.	.	rs558750564	.	.	0.0199336	0.0179	0.00359425	.	0.00145371	247642	0.01999096	17708	0.02216174	0.02557319	.	.	P-loop containing nucleoside triphosphate hydrolase;Small GTP-binding protein domain	0.0,D	0.007,B	0.04,B	1,N	0.245608,N	.	-1.32,T	2.0474	-0.128	0.220	.	.	.	VDB=0.000951445;SGB=-0.693097;RPB=0.233054;MQB=1.2012e-09;MQSB=0.700097;BQB=0.505495;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=192;DP4=42,41,32,38;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:69:39,30	0/0:.:50:.	0/0:.:100:.	0/0:.:50:.	0/0:.:51:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:84:44,40	C	G	0	2	Pas-associated protein RAB37, 609956	.	.	.	10722846	GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NUCLEAR_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION	GO_INTRACELLULAR_VESICLE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT	GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	Hepatocytes of liver, cardiac myocytes and smooth muscle cells displayed strong cytoplasmic positivity. Renal tubules showed moderate positivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000172794-RAB37/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lymph node: 14.5	.	.	BP4, PM1
H	17	72832329	rs574674425	G	A	222	PASS	TMEM104	.	exonic	NM_017728	.	missense SNV	TMEM104:NM_017728:exon10:c.G994A:p.D332N	ENST00000417024.6,ENST00000335464.9,ENSG00000109066.13,ENST00000582773.5,ENST00000582330.1	CpG: 43	17q25.1	.	.	.	.	.	rs574674425	.	.	.	.	.	.	0.00007362	244500	0.00092764	17248	0.00077730	.	.	.	.	0.062,T	0.37,B	0.928,P	1,D	0.000016,D	1.955,M	4.42,T	14.0338	1.346	4.045	4.537862,24.3	4.29	0.0433998959074	VDB=0.926129;SGB=-0.693147;RPB=0.822922;MQB=1.94812e-38;MQSB=0.287909;BQB=0.763113;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=356;DP4=103,38,86,55;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:282:255,0,255:141,141	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues showed moderate cytoplasmic and nuclear positivity. Stomach, gall bladder, adrenal gland, decidual cells and subset of neuronal cells were strongly stained. Renal glomeruli, glial cells, lymphoid cells, adipocytes and fibroblasts were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000109066-TMEM104/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 6.3	nucleus but not nucleoli; golgi apparatus	.	PM2
H-	17	73498339	rs370188421	G	A	222	PASS	CASKIN2	CASK-interacting protein 2	exonic	NM_001142643,NM_020753	.	missense SNV	CASKIN2:NM_001142643:exon17:c.C2570T:p.T857M,CASKIN2:NM_020753:exon18:c.C2816T:p.T939M	ENST00000321617.7,ENSG00000177303.9,ENST00000433559.6	CpG: 22	17q25.1	.	.	Score=828;Name=V$NFKB_Q6	.	.	rs370188421	.	.	0.00166113	0.002	0.000399361	.	0.00090838	192650	0.01012548	16098	0.01224728	0.01238938	.	-0.0388	.	0.135,T	0.266,B	0.968,D	1,N	0.005190,N	0.695,N	-0.27,T	12.5841	0.297	5.589	2.442030,19.09	2.98	.	VDB=0.0970268;SGB=-0.693147;RPB=0.837187;MQB=1.74612e-13;MQSB=0.999761;BQB=0.593188;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=122;DP4=23,17,31,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:66:.:.	0/0:100:.:.	0/0:62:.:.	0/0:50:.:.	0/0:63:.:.	0/0:50:.:.	0/0:51:.:.	0/1:87:255,0,255:40,47	G	A	0	1	CASK-interacting protein 2, 612185	.	.	.	10574461|12040031	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000177303-CASKIN2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 20.0	nucleus but not nucleoli	.	.
L	17	73554284	rs35940109	C	T	222	PASS	LLGL2	.	exonic	NM_001015002,NM_001031803,NM_004524	.	synonymous SNV	LLGL2:NM_001015002:exon4:c.C222T:p.N74N,LLGL2:NM_001031803:exon4:c.C222T:p.N74N,LLGL2:NM_004524:exon4:c.C222T:p.N74N	ENST00000578536.5,ENST00000167462.9,ENST00000392550.7,ENST00000577200.5,ENST00000578363.5,ENST00000583658.1,ENST00000545227.6,ENST00000580578.5,ENST00000579392.5,ENST00000581713.5,ENST00000375227.8,ENSG00000073350.13	.	17q25.1	.	.	Score=860;Name=V$FOXO4_02	.	.	rs35940109	.	.	0	.	0.00599042	0.0102	0.01301006	276632	0.00005302	18860	.	0.00088339	.	0.4103	.	.	.	.	.	.	.	.	.	-0.487	-4.275	1.765256,14.78	.	.	VDB=6.71361e-06;SGB=-0.693147;RPB=0.83506;MQB=2.85499e-26;MQSB=0.568477;BQB=0.89022;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=254;DP4=48,48,43,46;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:185:255,0,255:96,89	C	T	0	1	.	.	.	.	.	GO_ESTABLISHMENT_OF_SPINDLE_ORIENTATION;GO_CELL_DIVISION;GO_SECRETION_BY_CELL;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_SPINDLE_LOCALIZATION;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_EXOCYTOSIS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_MICROTUBULE_BASED_PROCESS;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_SECRETION;GO_ESTABLISHMENT_OF_CELL_POLARITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_NEUROGENESIS;GO_REGULATION_OF_NOTCH_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CELL_CYCLE;GO_REGULATION_OF_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY;GO_ORGANELLE_LOCALIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CORTICAL_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_CORTICAL_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CORTICAL_ACTIN_CYTOSKELETON;GO_CELL_CORTEX	GO_SYNTAXIN_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_SNARE_BINDING;GO_ENZYME_BINDING;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_GTPASE_BINDING	KEGG_TIGHT_JUNCTION	.	.	.	Normal tissues generally showed moderate to strong cytoplasmic positivity. Muscle and bile duct cells were weakly stained.	http://www.proteinatlas.org/ENSG00000073350-LLGL2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	stomach: 50.2	cytoplasm; vesicles	.	BP7
H	17	73612641	.	C	CA	69	PASS	MYO15B	.	exonic	NM_001309242	.	unknown	UNKNOWN	ENST00000621743.4,ENSG00000266714.6,ENST00000610510.4,ENST00000610510.4_0,ENST00000612587.4,ENST00000610429.1,ENST00000633867.1_0,ENST00000619501.4,ENST00000633867.1	.	17q25.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00245975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.91891;SGB=-0.636426;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=345;DP4=3,2,15,1;IDV=2;IMF=0.0124224;MinDP=100;AN=18;AC=2	GT:PL:DP:AD	0/1:80,0,55:10:3,7	0/0:.:103:.	0/0:.:101:.	0/0:.:100:.	0/0:.:101:.	0/0:.:100:.	0/0:.:103:.	0/0:.:138:.	0/1:103,0,26:11:2,9	C	CA	0	2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
H	17	73999328	rs34670267	G	A	222	PASS	CDK3	Cyclin-dependent kinase 3	exonic	NM_001258	.	missense SNV	CDK3:NM_001258:exon7:c.G641A:p.R214H	ENSG00000250506.7,ENST00000448471.2,ENST00000425876.6,ENST00000567351.5,ENSG00000261408.6,ENST00000569284.1,ENST00000586261.2	.	17q25.1	.	.	.	.	.	rs34670267	.	.	0.0448505	0.0367	0.00738818	7.7e-05	0.00251077	277206	0.03492686	18868	0.04838710	0.05193662	.	-0.0612	Protein kinase domain;Protein kinase-like domain;Serine/threonine/dual specificity protein kinase, catalytic  domain	0.0,D	0.132,B	0.846,P	0.999946,D	0.000055,D	1,L	-0.2,T	13.2808	2.455	3.930	4.297457,24.0	4.72	.	VDB=0.0772762;SGB=-0.693145;RPB=0.94704;MQB=2.70672e-10;MQSB=0.974441;BQB=0.948591;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=107;DP4=23,15,22,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:78:255,0,255:38,40	G	A	0	1	Cyclin-dependent kinase 3, 123828	.	.	.	7882308|1639063|11172011	GO_CELL_DIVISION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_CELL_PROLIFERATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_CYCLE;GO_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic and nuclear expression in several tissues.	http://www.proteinatlas.org/ENSG00000250506-CDK3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 13.2	cytoplasm	.	BS1, PM1
L	17	76230789	rs75864177	C	T	222	PASS	TMEM235	.	exonic	NM_001204210,NM_001204211	.	synonymous SNV	TMEM235:NM_001204211:exon3:c.C306T:p.T102T,TMEM235:NM_001204210:exon4:c.C387T:p.T129T	ENST00000421688.5,ENST00000550981.7,ENST00000586400.5,ENST00000591033.2,ENST00000551068.7,ENSG00000204278.12,ENST00000374946.7	.	17q25.3	.	.	.	.	.	rs75864177	.	.	0.00498339	0.004	0.0081869	.	0.00251639	161342	0.00389948	11540	0.00174893	0.00264085	.	-4.2837	.	.	.	.	0.971916,D	.	.	.	1.4106	-2.285	-6.076	1.002674,10.68	.	.	VDB=7.93613e-06;SGB=-0.693147;RPB=0.799841;MQB=0.1956;MQSB=0.939108;BQB=0.800788;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=207;DP4=33,43,46,34;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:104:.:.	0/0:101:.:.	0/0:100:.:.	0/1:156:255,0,255:76,80	C	T	0	1	.	.	.	.	.	.	GO_APICAL_PART_OF_CELL;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000204278-TMEM235/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP7
L	17	76415702	rs148644741	C	T	222	PASS	PGS1	Phosphatidylglycerophosphate synthase 1	exonic	NM_024419	.	synonymous SNV	PGS1:NM_024419:exon9:c.C1627T:p.L543L	ENST00000586355.1,ENST00000591996.1,ENST00000588281.5,ENST00000589426.5,ENST00000262764.10,ENST00000586019.1,ENST00000589425.5,ENSG00000087157.18,ENST00000588169.5	.	17q25.3	.	.	.	.	.	rs148644741	.	.	0.0215947	0.0169	0.00339457	0.0005	0.00154761	277202	0.01976892	18868	0.01671201	0.01672535	.	-5.7535	.	.	.	.	.	.	.	.	.	0.681	2.734	1.414081,12.86	3.5	.	VDB=0.65071;SGB=-0.693145;RPB=0.721232;MQB=5.72574e-06;MQSB=0.999971;BQB=0.764279;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=182;DP4=48,13,58,19;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:68:27,41	0/0:.:51:.	0/0:.:50:.	0/0:.:50:.	0/0:.:51:.	0/0:.:51:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:70:34,36	C	T	0	2	.	.	.	.	.	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_CARDIOLIPIN_METABOLIC_PROCESS;GO_DIACYLGLYCEROL_METABOLIC_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM	GO_CALCIUM_ION_BINDING;GO_PHOSPHOTRANSFERASE_ACTIVITY_FOR_OTHER_SUBSTITUTED_PHOSPHATE_GROUPS;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	Most normal tissues showed weak to moderate cytoplasmic positivity. Gastrointestinal glands, placenta and most lymphoid cells showed strong cytoplasmic immunoreactivity.	http://www.proteinatlas.org/ENSG00000087157-PGS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lung: 18.8	vesicles; cytoskeleton (intermediate filaments); cell junctions	.	.
L	17	78073466	rs377384113	C	T	222	PASS	CCDC40	Coiled-coil domain-containing protein 40	exonic	NM_017950	.	synonymous SNV	CCDC40:NM_017950:exon20:c.C3321T:p.I1107I	ENST00000574799.5,ENSG00000141519.14,ENST00000397545.8	.	17q25.3	.	.	.	.	.	rs377384113	.	.	.	.	.	8e-05	0.00004694	276942	0.00015910	18856	.	0.00176367	.	.	.	.	.	.	.	.	.	.	.	-0.570	-0.287	1.527425,13.46	.	.	VDB=0.156635;SGB=-0.693136;RPB=0.893672;MQB=2.99156e-10;MQSB=0.0854056;BQB=0.794993;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=106;DP4=20,21,28,7;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:63:.:.	0/0:54:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:76:255,0,255:41,35	C	T	0	1	Ciliary dyskinesia, primary, 15, 613808 (3)	.	.	.	23255504|21131974|10997877	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_MICROTUBULE_BASED_PROCESS;GO_SPERM_MOTILITY;GO_PANCREAS_DEVELOPMENT;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_MOTILITY;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_SPECIFICATION_OF_SYMMETRY;GO_INNER_DYNEIN_ARM_ASSEMBLY;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_EMBRYONIC_HEART_TUBE_DEVELOPMENT;GO_EPITHELIAL_CILIUM_MOVEMENT;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYONIC_ORGAN_MORPHOGENESIS;GO_CILIUM_MORPHOGENESIS;GO_HEART_MORPHOGENESIS;GO_CILIUM_ORGANIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ORGAN_MORPHOGENESIS;GO_CILIUM_MOVEMENT;GO_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT;GO_HEART_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_ORGANELLE_ASSEMBLY;GO_EMBRYONIC_MORPHOGENESIS;GO_MICROTUBULE_BUNDLE_FORMATION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MOTILE_CILIUM_ASSEMBLY;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CILIUM_MOVEMENT;GO_TUBE_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_MICROTUBULE_BASED_MOVEMENT;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_AXONEME_ASSEMBLY;GO_GLAND_DEVELOPMENT;GO_PATTERN_SPECIFICATION_PROCESS;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_EMBRYONIC_HEART_TUBE_MORPHOGENESIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_CILIARY_PART;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_CILIARY_PLASM;GO_CILIUM	.	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic positivity. Liver, lymphoid tissues and neuronal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000141519-CCDC40/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 2.8	cytoskeleton (microtubules)	.	BP7, PM2
L	17	78184698	rs150750383	G	A	222	PASS	SGSH	N-sulfoglucosamine sulfohydrolase (sulfamidase)	exonic	NM_000199	.	synonymous SNV	SGSH:NM_000199:exon8:c.C1062T:p.A354A	ENST00000576856.1,ENST00000326317.10,ENST00000573150.5,ENST00000572257.5,ENST00000575282.5,ENSG00000181523.12	CpG: 46	17q25.3	.	.	.	.	.	rs150750383	.	.	.	.	.	0.0002	0.00017474	274698	.	.	.	0.00088183	.	.	.	.	.	.	.	.	.	.	.	-4.124	-3.740	1.271869,12.12	.	.	VDB=0.837664;SGB=-0.693141;RPB=0.0998424;MQB=2.21689e-13;MQSB=0.148684;BQB=0.183282;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=103;DP4=12,30,20,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:79:255,0,255:42,37	G	A	0	1	Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive	.	.	.	11181566|9405287|9158154|9401012|11343308|10818207|9554748|12702166|10521831|10727844|15637719|8946167|12000360|18407553|9744479|6777119|7493035|21061399|9700599|11668611	GO_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_AMINOGLYCAN_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_VACUOLAR_LUMEN;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_SULFURIC_ESTER_HYDROLASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	Granular cytoplasmic expression in several cell types with highest levels in male genital tract, adrenal cortex, renal tubules in kidney and gall bladder.	http://www.proteinatlas.org/ENSG00000181523-SGSH/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 22.6	.	.	BP7, PM2
L*	17	78727965	.	C	T	222	PASS	RPTOR	Regulatory-associated protein of MTOR	exonic	NM_001163034,NM_020761	.	synonymous SNV	RPTOR:NM_001163034:exon6:c.C810T:p.P270P,RPTOR:NM_020761:exon6:c.C810T:p.P270P	ENST00000544334.6,ENSG00000141564.13,ENST00000306801.7,ENST00000570891.5,ENST00000575542.5,ENST00000574767.5,ENST00000577161.5	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3923	.	.	.	.	.	.	.	.	.	1.412	0.327	1.803839,15.01	3.38	.	VDB=2.29121e-05;SGB=-0.693147;RPB=0.96186;MQB=1.96586e-12;MQSB=0.996479;BQB=0.979416;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=115;DP4=14,23,21,31;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:52:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:89:255,0,255:37,52	C	T	0	1	Regulatory-associated protein of MTOR, 607130	.	.	.	26678875|15173233|12150926|14608357|12150925|12718876|10718198|18497260|15923274	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TOR_SIGNALING;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_CELL_CYCLE_ARREST;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_MACROAUTOPHAGY;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_CELL_SIZE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_CELL_CYCLE;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_GROWTH;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_AMINO_ACID;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_TOR_SIGNALING;GO_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TOR_SIGNALING;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_CYCLE_PROCESS;GO_CELL_GROWTH	GO_VACUOLE;GO_NEURON_PART;GO_NEURON_PROJECTION;GO_VACUOLAR_PART;GO_CELL_BODY;GO_LYTIC_VACUOLE;GO_TOR_COMPLEX;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_LYTIC_VACUOLE_MEMBRANE;GO_DENDRITE;GO_VACUOLAR_MEMBRANE	GO_KINASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_14_3_3_PROTEIN_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY	PID_MET_PATHWAY;PID_LKB1_PATHWAY;PID_MTOR_4PATHWAY	.	REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_MTORC1_MEDIATED_SIGNALLING;REACTOME_PI3K_CASCADE	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000141564-RPTOR/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 6.6	vesicles; nucleus but not nucleoli; cytoplasm	.	PM2, PP3
H+	17	79031771	.	A	AGGG	27.3055	PASS	BAIAP2	BAI1-associated protein 2	splicing	NM_001144888,NM_006340,NM_017450,NM_017451	NM_001144888:exon3:c.217+4->GGG;NM_006340:exon3:c.217+4->GGG;NM_017450:exon3:c.217+4->GGG;NM_017451:exon3:c.217+4->GGG	.	.	ENSG00000175866.15,ENST00000572073.5,ENST00000573017.5,ENST00000435091.7,ENST00000321280.11,ENST00000571530.5,ENST00000575245.5,ENST00000576470.5,ENST00000574804.5,ENST00000573894.5,ENST00000575958.5,ENST00000428708.6,ENST00000570913.5,ENST00000572329.5,ENST00000575712.5,ENST00000573677.5,ENST00000575989.5,ENST00000575750.5,ENST00000572918.5,ENST00000321300.10,ENST00000573659.5	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00043103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.451848;SGB=-0.511536;MQSB=0.861511;MQ0F=0;ICB=1;HOB=0.5;MQ=38;DP=39;DP4=0,3,3,0;IDV=3;IMF=0.0769231;MinDP=6;AN=18;AC=1	GT:DP:PL:AD	0/0:6:.:.	0/0:16:.:.	0/0:17:.:.	0/0:6:.:.	0/0:12:.:.	0/0:10:.:.	0/0:15:.:.	0/0:11:.:.	0/1:6:60,0,84:3,2	A	AGGG	0	1	BAI1-associated protein 2, 605475	.	.	.	11130076|10343108|10332026|14752106|8621681	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_ACTIN_FILAMENT_BUNDLE_ORGANIZATION;GO_CELL_PART_MORPHOGENESIS;GO_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_PEPTIDE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_FC_GAMMA_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_REGULATION_OF_SYNAPTIC_PLASTICITY;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_BACTERIUM;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_DENDRITIC_SPINE_MORPHOGENESIS;GO_ACTIN_FILAMENT_ORGANIZATION;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_MORPHOGENESIS;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT;GO_ENDOCYTOSIS;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_PHAGOCYTOSIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_FILOPODIUM;GO_SECRETORY_GRANULE;GO_EXCITATORY_SYNAPSE;GO_ACTIN_CYTOSKELETON;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_NEURON_SPINE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_RUFFLE;GO_CELL_LEADING_EDGE;GO_SYNAPSE_PART;GO_DENDRITE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_CYTOSKELETAL_ADAPTOR_ACTIVITY;GO_PROTEIN_C_TERMINUS_BINDING;GO_BINDING_BRIDGING;GO_IDENTICAL_PROTEIN_BINDING;GO_PROLINE_RICH_REGION_BINDING;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_PDGFRB_PATHWAY;PID_RAC1_PATHWAY	BIOCARTA_RHO_PATHWAY	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000175866-BAIAP2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 71.6	plasma membrane; cytoplasm	.	.
H	17	79234089	rs539061325	G	A	222	PASS	SLC38A10	Solute carrier family 38 (amino acid transporter), member 10	exonic	NM_001037984,NM_138570	.	missense SNV	SLC38A10:NM_001037984:exon11:c.C1237T:p.R413W,SLC38A10:NM_138570:exon11:c.C1237T:p.R413W	ENST00000288439.9,ENST00000374759.7,ENST00000542075.5,ENSG00000157637.12	.	17q25.3	.	.	.	.	.	rs539061325	.	.	0	.	0.000599042	.	0.00008754	228462	.	.	0.00019440	0.00088496	.	-1.0473	.	0.002,D	0.72,P	0.998,D	1,N	0.777589,U	1.445,L	2.84,T	6.8489	1.044	0.940	4.848720,24.8	2.41	0.0252654512886	VDB=0.0200902;SGB=-0.693147;RPB=0.999359;MQB=3.6081e-18;MQSB=0.0305746;BQB=0.339107;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=167;DP4=44,24,25,35;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:128:255,0,255:68,60	G	A	0	1	Solute carrier family 38 (amino acid transporter), member 10, 616525	.	.	.	23506890|18418736	GO_ION_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORT;GO_CATION_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_BONE_DEVELOPMENT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_AMINO_ACID_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	.	GO_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Granular cytoplasmic expression in all tissues.	http://www.proteinatlas.org/ENSG00000157637-SLC38A10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 27.2	.	.	PM2
L	17	79349904	rs4622572	T	C	222	PASS	LOC100130370	.	exonic	NM_001272086,NM_001347841	.	synonymous SNV	LOC100130370:NM_001272086:exon4:c.A333G:p.E111E,LOC100130370:NM_001347841:exon4:c.A312G:p.E104E	ENST00000570929.1,ENST00000612902.4,ENST00000570301.5,ENSG00000262223.6,ENST00000572077.5	.	17q25.3	.	.	.	.	Score=962;Name="1965091:MLT2D(LTR)"	rs4622572	.	.	0.0265781	0.0357	0.0129792	.	0.00649477	30948	0.02160494	1620	0.01166407	0.02212389	.	.	.	.	.	.	.	.	.	.	.	0.559	-0.122	.	.	.	VDB=0.374929;SGB=-0.69168;RPB=0.963022;MQB=3.28552e-07;MQSB=0.696777;BQB=0.712401;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=54;DP4=18,4,13,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:48:.:.	0/0:50:.:.	0/0:30:.:.	0/1:41:255,0,255:22,19	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7
H	17	79422391	rs568661029	A	G	222	PASS	BAHCC1	BAH domain- and coiled-coil domain-containing protein 1	exonic	NM_001291324	.	unknown	UNKNOWN	ENST00000584436.7,ENSG00000266074.8,ENST00000307745.8	.	17q25.3	.	.	.	.	.	rs568661029	.	.	0	0.002	0.000399361	.	0.00001355	147652	0.00019562	10224	.	.	.	-0.2435	.	0.002,D	0.724,P	0.993,D	1,N	0.425508,N	2.095,M	1.76,T	6.3151	0.265	1.629	3.120315,22.6	2.73	0.0553881818899	VDB=0.726478;SGB=-0.693147;RPB=0.964953;MQB=4.89152e-13;MQSB=0.632771;BQB=0.828436;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=117;DP4=29,14,26,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:88:255,0,255:43,45	A	G	0	1	BAH domain- and coiled-coil domain-containing protein 1, 617646	.	.	.	10819331	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_DNA_CONFORMATION_CHANGE;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_CHROMATIN_MODIFICATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_CHROMATIN_ORGANIZATION;GO_GENE_SILENCING;GO_CHROMATIN_SILENCING;GO_CHROMATIN_REMODELING;GO_HETEROCHROMATIN_ORGANIZATION;GO_DNA_PACKAGING;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC	GO_CHROMOSOME;GO_CHROMATIN	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000266074-BAHCC1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 2.7	.	.	PM2
H	17	79872052	rs372382788	GCAGA	G	222	PASS	SIRT7	Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7)	splicing	NM_016538	.	.	.	ENST00000571832.5,ENST00000576156.1,ENST00000571233.1,ENST00000572902.5,ENST00000574992.5,ENST00000574153.1,ENSG00000187531.13,ENST00000572976.5,ENST00000328666.10,ENST00000572350.5,ENST00000536038.5	.	17q25.3	.	.	.	.	.	rs372382788	.	.	0.00498339	0.006	0.00439297	0.0022	0.00465598	276848	0.00440038	18862	0.00446949	0.00440917	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.373562,0.026	.	.	INDEL;VDB=0.0434086;SGB=-0.693147;MQSB=0.0246804;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=223;DP4=70,27,60,40;IDV=100;IMF=0.44843;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:102:.:.	0/0:103:.:.	0/0:101:.:.	0/0:102:.:.	0/1:197:255,0,255:97,100	GCAGA	G	0	1	Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7), 606212	.	.	.	22722849|16618798|10873683|25792330|18239138|16525639	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_MACROMOLECULE_DEACYLATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_RRNA_TRANSCRIPTION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_MITOTIC_CELL_CYCLE;GO_NCRNA_TRANSCRIPTION;GO_ORGANELLE_FISSION;GO_CHROMATIN_MODIFICATION;GO_EXIT_FROM_MITOSIS;GO_COVALENT_CHROMATIN_MODIFICATION;GO_MITOTIC_NUCLEAR_DIVISION;GO_NCRNA_METABOLIC_PROCESS;GO_CHROMATIN_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELL_CYCLE_PROCESS;GO_HISTONE_H3_DEACETYLATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_NUCLEOLAR_PART;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_NUCLEOLUS	GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_NAD_BINDING;GO_NAD_DEPENDENT_PROTEIN_DEACETYLASE_ACTIVITY;GO_COFACTOR_BINDING;GO_CHROMATIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_DEACETYLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_OXIDIZED_NAD_BINDING;GO_COENZYME_BINDING	.	PID_HDAC_CLASSIII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	.	.	Ubiquitous nuclear and nucleolar expression.	http://www.proteinatlas.org/ENSG00000187531-SIRT7/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	esophagus: 17.1	nucleoli; vesicles	.	.
H	17	79966910	rs372283666	CAGCCCGTGGACCGGG	C	222	PASS	ASPSCR1	Alveolar soft-part sarcoma chromosome region, candidate 1	exonic	NM_001251888,NM_001330528,NM_024083	.	frameshift deletion	ASPSCR1:NM_001330528:exon7:c.703_715del:p.P235fs,ASPSCR1:NM_001251888:exon8:c.934_946del:p.P312fs,ASPSCR1:NM_024083:exon8:c.934_946del:p.P312fs	ENST00000580534.5,ENST00000581608.5,ENST00000583503.5,ENST00000577733.5,ENST00000578236.5,ENST00000582355.6,ENST00000306739.8,ENST00000306729.11,ENST00000584454.5,ENSG00000169696.15	CpG: 25	17q25.3	.	.	.	.	.	rs372283666	.	.	0.00166113	0.0099	0.00499201	0.0064	0.00124942	168878	0.00185676	11310	0.00038880	0.00088652	.	.	.	.	.	.	.	.	.	.	.	.	.	2.316534,13.70	.	.	INDEL;VDB=0.00574469;SGB=-0.590765;MQ0F=0;ICB=1;HOB=0.5;MQ=50;MQSB=0.994638;DP=69;DP4=39,2,20,1;IDV=16;IMF=0.516129;MinDP=12;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:12:.:.	0/0:32:96,.,.:27,.	0/0:30:.:.	0/0:30:.:.	0/2:30:255,.,.,0,.,255:14,.,16	CAGCCCGTGGACCGGG	CAGCCCGTGGACCGGGAGCCCGTGGACCGGG,C	0	1	Alveolar soft-part sarcoma, 606243 (3)	.	.	.	14562105|23349634|11358836|10506710|11244503	GO_REGULATION_OF_GLUCOSE_IMPORT;GO_CHEMICAL_HOMEOSTASIS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_HOMEOSTATIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION	GO_VESICLE_MEMBRANE;GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SIDE_OF_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT_MEMBRANE;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE	.	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic and/or nuclear staining. Ovarian follicle cells displayed strong cytoplasmic immunoreactivity.	http://www.proteinatlas.org/ENSG00000169696-ASPSCR1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 13.3	nucleus but not nucleoli; plasma membrane; vesicles	.	BS2
L	17	80153196	rs373945565	G	A	222	PASS	CCDC57	.	exonic	NM_001316321,NM_198082	.	synonymous SNV	CCDC57:NM_198082:exon4:c.C561T:p.H187H,CCDC57:NM_001316321:exon5:c.C561T:p.H187H	ENSG00000176155.18,ENST00000392347.5,ENST00000578910.1,ENST00000392343.3,ENST00000581625.2,ENST00000389641.8	.	17q25.3	.	.	.	.	.	rs373945565	.	.	0.00166113	0.003	0.000599042	8.1e-05	0.00043944	257148	0.00592775	17882	0.00563545	0.00264085	.	-0.1196	.	.	.	.	.	.	.	.	.	-1.726	-1.014	.	.	.	VDB=0.0111085;SGB=-0.693147;RPB=0.571797;MQB=6.59021e-16;MQSB=0.986864;BQB=0.809755;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=165;DP4=39,25,36,20;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:120:255,0,255:64,56	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Ubiquitous cytoplasmic staining.	http://www.proteinatlas.org/ENSG00000176155-CCDC57/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 9.2	cytoskeleton (microtubules); cytoplasm; microtubule organizing center	.	BP7
H	17	80887287	rs181489692	C	T	222	PASS	TBCD	Tubulin-specific chaperone D	exonic	NM_005993	.	missense SNV	TBCD:NM_005993:exon32:c.C2902T:p.R968C	ENST00000577051.1,ENST00000571796.5,ENST00000539345.6,ENSG00000141556.20,ENST00000355528.8	CpG: 37	17q25.3	.	.	Score=890;Name=V$IK1_01	.	.	rs181489692	.	.	0.0182724	0.0109	0.00219649	.	0.00162099	276374	0.02231764	18864	0.02701127	0.02816901	.	0.0185	Armadillo-like helical;Armadillo-type fold;Tubulin-specific chaperone D, C-terminal	0.172,T	0.063,B	0.473,P	0.999997,N	0.098582,N	1.83,L	1.43,T	8.0499	2.313	1.116	3.090240,22.5	3.93	.	VDB=0.00052592;SGB=-0.693147;RPB=0.997899;MQB=2.08655e-23;MQSB=0.799865;BQB=0.677893;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=696;DP4=139,141,121,123;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:102:.:.	0/1:272:255,0,255:144,128	0/0:106:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/1:252:255,0,255:136,116	C	T	0	2	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive	.	.	.	27666370|10722852|27666374|10231032|15303240|20740604	GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_APICAL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_CELL_JUNCTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ADHERENS_JUNCTION_ASSEMBLY;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_BICELLULAR_TIGHT_JUNCTION_ASSEMBLY;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_PROTEIN_FOLDING;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_JUNCTION_ASSEMBLY;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_REGULATION_OF_CELL_ADHESION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_CELL_CELL_JUNCTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY	GO_MICROTUBULE_CYTOSKELETON;GO_APICAL_JUNCTION_COMPLEX;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_LATERAL_PLASMA_MEMBRANE;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_SUPRAMOLECULAR_FIBER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_BETA_TUBULIN_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_CHAPERONE_BINDING;GO_TUBULIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	Stomach displayed strong cytoplasmic and membranous positivity. Small intestine, hepatocytes, gall bladder, thyroid gland, Leydig cells and skeletal muscle cells were moderately stained. Distinct membranous staining was observed in respiratory epithelia and fallopian tube. Remaining normal cells were mostly negative.	http://www.proteinatlas.org/ENSG00000141556-TBCD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	salivary gland: 29.2	.	.	PM1
H	18	5419741	rs142122200	G	A	128	PASS	EPB41L3	Erythrocyte membrane protein band 4.1-like 3	exonic	NM_001281533,NM_001281534,NM_001281535,NM_001330557,NM_012307	.	missense SNV	EPB41L3:NM_001281533:exon12:c.C1529T:p.T510M,EPB41L3:NM_001281534:exon12:c.C1529T:p.T510M,EPB41L3:NM_001330557:exon12:c.C1529T:p.T510M,EPB41L3:NM_012307:exon12:c.C1475T:p.T492M,EPB41L3:NM_001281535:exon14:c.C1202T:p.T401M	ENST00000580316.5,ENST00000578196.5,ENST00000545076.5,ENST00000580647.5,ENST00000342933.7,ENST00000544123.5,ENST00000400111.8,ENST00000542652.6,ENST00000637651.1,ENST00000341928.6,ENST00000581387.5,ENST00000581292.5,ENST00000540638.6,ENST00000578395.1,ENST00000579271.5,ENSG00000082397.17,ENST00000578524.5	.	18p11.31	.	.	.	.	.	rs142122200	.	.	.	.	.	.	0.00000410	243756	.	.	.	.	.	0.3781	.	0.001,D	0.999,D	1.0,D	1,D	0.149125,N	2.125,M	-1.55,D	20.0086	2.808	7.147	5.932387,27.6	5.61	0.0530413726233	VDB=0.586163;SGB=-0.690438;RPB=0.819803;MQB=2.62755e-05;MQSB=1;BQB=0.655816;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=43;DP4=15,1,17,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:33:161,0,233:16,17	G	A	0	1	Erythrocyte membrane protein band 4.1-like 3, 605331	.	.	.	10888600|16242908|9892180	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CELL_PART_MORPHOGENESIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_CELL_DEATH;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_NEURON_PROJECTION_DEVELOPMENT;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_REGULATION_OF_GROWTH;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_CELL_JUNCTION_ORGANIZATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_MAINTENANCE_OF_LOCATION;GO_ENSHEATHMENT_OF_NEURONS;GO_REGULATION_OF_CELL_GROWTH;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_NEUROGENESIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_MYELIN_ASSEMBLY;GO_CELL_JUNCTION_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_MYELIN_MAINTENANCE;GO_CELL_CELL_JUNCTION_ASSEMBLY;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_CORTICAL_CYTOSKELETON_ORGANIZATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_EXCITATORY_SYNAPSE;GO_CELL_PROJECTION_MEMBRANE;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_PARANODE_REGION_OF_AXON;GO_CELL_JUNCTION;GO_LEADING_EDGE_MEMBRANE;GO_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_CELL_JUNCTION;GO_AXOLEMMA;GO_PLASMA_MEMBRANE_REGION;GO_NEURON_PROJECTION_MEMBRANE;GO_MAIN_AXON;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_AXON_PART;GO_SYNAPSE_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_TIGHT_JUNCTION	.	.	.	Cytoplasmic expression in several tissues, often with a membranous pattern.	http://www.proteinatlas.org/ENSG00000082397-EPB41L3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 48.2	plasma membrane	.	PM2, PP3
H	18	10689803	rs147568081	G	T	222	PASS	PIEZO2	PIEZO-type mechanosensitive ion channel component 2	splicing	NM_022068	NM_022068:exon45:c.7011-3C>A	.	.	ENST00000503781.7,ENSG00000154864.11,ENST00000302079.10,ENST00000582913.5,ENST00000383408.6,ENST00000580640.5,ENST00000538948.5	.	18p11.22	.	.	.	.	.	rs147568081	.	.	0.0232558	0.0198	0.00399361	.	0.00112386	266938	0.01559662	18722	0.01049359	0.01320423	0.9520,0.644	1.6157	.	.	.	.	.	.	.	.	.	0.622	2.039	1.017077,10.76	2.63	.	VDB=0.00073458;SGB=-0.670168;RPB=0.339465;MQB=0.0095249;MQSB=0.865341;BQB=0.927387;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=87;DP4=11,15,14,18;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:32:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:25:235,0,255:15,10	0/0:10:.:.	0/1:33:255,0,197:11,22	G	T	0	2	Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant	.	.	.	11152147|27653382|23487782|20813920|27843126|8533802|1941966|27607563|24717432|24726473|11146470|25471886|15103714|8423615|17345626|24717433	GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS;GO_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;GO_CATION_TRANSPORT;GO_DETECTION_OF_MECHANICAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_DETECTION_OF_STIMULUS;GO_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_MECHANICAL_STIMULUS	.	GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Cytoplasmic expression in most tissues along with membranous positivity in several tissues.	http://www.proteinatlas.org/ENSG00000154864-PIEZO2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	gallbladder: 7.5	.	.	BS2, PVS1, PP3
H	18	11885781	rs201590510	C	A	222	PASS	MPPE1	Metallophosphoesterase 1	exonic	NM_001242904,NM_001319154,NM_001330563,NM_023075	.	missense SNV	MPPE1:NM_001242904:exon7:c.G713T:p.S238I,MPPE1:NM_001319154:exon8:c.G713T:p.S238I,MPPE1:NM_001330563:exon9:c.G836T:p.S279I,MPPE1:NM_023075:exon10:c.G902T:p.S301I	ENST00000592977.5,ENST00000344987.11,ENST00000588072.5,ENSG00000154889.16,ENST00000496196.5,ENST00000592306.5,ENST00000309976.13,ENST00000317251.8,ENST00000587724.5,ENST00000592447.5,ENST00000592894.5,ENST00000317235.11	.	18p11.21	.	.	Score=929;Name=V$NFY_Q6	.	.	rs201590510	.	.	0.00498339	0.003	0.000599042	.	0.00009059	275974	0.00127375	18842	0.00194326	0.00176056	.	1.1490	Calcineurin-like phosphoesterase domain, lpxH type;Metallo-dependent phosphatase-like	0.002,D	0.999,D	1.0,D	1,D	0.000000,D	3.435,M	2.28,T	19.4582	2.607	7.273	6.930996,33	5.53	0.159320262518	VDB=0.0440362;SGB=-0.693147;RPB=0.965342;MQB=1.51205e-16;MQSB=0.980793;BQB=0.775934;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=180;DP4=40,20,52,15;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:96:.:.	0/0:50:.:.	0/0:100:.:.	0/1:127:255,0,255:60,67	C	A	0	1	Metallophosphoesterase 1, 611900	.	.	.	11978971	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_GLYCOLIPID_BIOSYNTHETIC_PROCESS;GO_PHOSPHATIDYLINOSITOL_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_GPI_ANCHOR_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_LIPOPROTEIN_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_LIPOSACCHARIDE_METABOLIC_PROCESS;GO_GOLGI_VESICLE_TRANSPORT;GO_ER_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_MEMBRANE_LIPID_METABOLIC_PROCESS;GO_MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT_MEMBRANE;GO_CIS_GOLGI_NETWORK;GO_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM	GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_MANGANESE_ION_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHATIDYLINOSITOL_BINDING;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_GLYCOLIPID_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Most normal tissues displayed moderate to strong cytoplasmic positivity. Cells in the CNS, muscle and squamous epithelia were negative.	http://www.proteinatlas.org/ENSG00000154889-MPPE1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 30.2	nucleus but not nucleoli; golgi apparatus	.	PM1, PM2, PP3
L	18	12325865	rs200462932	C	T	222	PASS	TUBB6	Tubulin, beta-6	exonic	NM_001303524,NM_001303526,NM_001303527,NM_001303528,NM_001303529,NM_001303530,NM_032525	.	synonymous SNV	TUBB6:NM_001303526:exon3:c.C966T:p.R322R,TUBB6:NM_001303527:exon3:c.C861T:p.R287R,TUBB6:NM_001303529:exon4:c.C639T:p.R213R,TUBB6:NM_032525:exon4:c.C1077T:p.R359R,TUBB6:NM_001303524:exon5:c.C1077T:p.R359R,TUBB6:NM_001303528:exon5:c.C882T:p.R294R,TUBB6:NM_001303530:exon5:c.C639T:p.R213R	ENST00000417736.2,ENST00000586691.1,ENST00000590967.5,ENST00000317702.9,ENSG00000176014.12,ENST00000590103.5,ENST00000591909.5,ENST00000591208.1	CpG: 79	18p11.21	.	.	Score=842;Name=V$USF_01	Score=0.900296;Name=chr6:3225036	.	rs200462932	.	.	0.0116279	0.0089	0.00179712	0.0002	0.00102798	277242	0.01213824	18866	0.00932763	0.01408451	.	.	.	.	.	.	.	.	.	.	.	-3.079	-6.717	1.447196,13.03	.	.	VDB=0.00674005;SGB=-0.693147;RPB=0.945972;MQB=2.75921e-25;MQSB=0.389248;BQB=0.865703;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=452;DP4=79,112,63,111;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/1:178:255,0,255:92,86	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:187:255,0,255:99,88	C	T	0	2	Tubulin, beta-6, 615103	.	.	.	29016863|20191564	GO_MICROTUBULE_BASED_PROCESS	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER	GO_GTPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_GAP_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	REACTOME_PREFOLDIN_MEDIATED_TRANSFER_OF_SUBSTRATE_TO_CCT_TRIC;REACTOME_PROTEIN_FOLDING;REACTOME_FORMATION_OF_TUBULIN_FOLDING_INTERMEDIATES_BY_CCT_TRIC;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	Cytoplasmic expression in several tissue types.	http://www.proteinatlas.org/ENSG00000176014-TUBB6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 167.3	.	.	BP7
L	18	20573422	rs371151302	G	A	222	PASS	RBBP8	Retinoblastoma-binding protein 8	exonic	NM_002894,NM_203291,NM_203292	.	synonymous SNV	RBBP8:NM_002894:exon11:c.G1632A:p.T544T,RBBP8:NM_203291:exon11:c.G1632A:p.T544T,RBBP8:NM_203292:exon11:c.G1632A:p.T544T	ENST00000327155.9,ENST00000399722.6,ENST00000360790.9,ENST00000399725.6,ENST00000399721.6,ENSG00000101773.18	.	18q11.2	.	.	.	.	.	rs371151302	Uncertain significance|Uncertain significance;Seckel_syndrome|Microcephaly_with_mental_retardation_and_digital_anomalies;RCV000260859.1|RCV000360145.1;MedGen:Orphanet:SNOMED_CT|Gene:MedGen:OMIM;C0265202:ORPHA808:57917004|100192306:C2673414:251255	.	.	.	.	.	0.00010830	277002	0.00074263	18852	0.00097201	0.00088028	.	-0.0303	.	.	.	.	.	.	.	.	.	0.106	-0.120	.	.	.	VDB=0.204139;SGB=-0.692562;RPB=0.914611;MQB=9.84878e-08;MQSB=0.67032;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=15,7,18,4;MinDP=24;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:42:.:.	0/0:30:.:.	0/0:50:.:.	0/0:24:.:.	0/0:37:.:.	0/1:44:255,0,255:22,22	G	A	0	1	Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive	.	.	.	11781686|9721205|18071751|21160476|20829486|10910365|18806779|19270026|21998596|21368826|17965729|9535825|24389050|11751867|12414815|9811458|10764811|9738006|19357644	GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ESTRADIOL;GO_CELL_DIVISION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_MITOTIC_CELL_CYCLE;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_ORGANELLE_FISSION;GO_DNA_REPAIR;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_MITOTIC_NUCLEAR_DIVISION;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_RESPONSE_TO_ESTROGEN;GO_BLASTOCYST_DEVELOPMENT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_DNA_RECOMBINATION;GO_DNA_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_DNA_SYNTHESIS_INVOLVED_IN_DNA_REPAIR;GO_NON_RECOMBINATIONAL_REPAIR;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_STRAND_DISPLACEMENT;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_DNA_INTEGRITY_CHECKPOINT;GO_G2_DNA_DAMAGE_CHECKPOINT;GO_RECOMBINATIONAL_REPAIR;GO_CELL_CYCLE_CHECKPOINT;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_DNA_DOUBLE_STRAND_BREAK_PROCESSING;GO_RESPONSE_TO_ALCOHOL;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_TRANSCRIPTIONAL_REPRESSOR_COMPLEX;GO_NUCLEOLUS	GO_RNA_POLYMERASE_II_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_DAMAGED_DNA_BINDING;GO_RNA_POLYMERASE_II_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_NUCLEASE_ACTIVITY;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_ENDODEOXYRIBONUCLEASE_ACTIVITY;GO_DEOXYRIBONUCLEASE_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING	.	PID_NOTCH_PATHWAY;PID_E2F_PATHWAY;PID_ATM_PATHWAY;PID_BARD1_PATHWAY;PID_HES_HEY_PATHWAY	BIOCARTA_ATM_PATHWAY	REACTOME_MEIOSIS;REACTOME_MEIOTIC_RECOMBINATION	Most normal tissues displayed weak to moderate cytoplasmic and nuclear positivity. Liver, skeletal muscle and most cells of CNS were negative.	http://www.proteinatlas.org/ENSG00000101773-RBBP8/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 28.3	nucleus but not nucleoli	.	BP7, PM2
H	18	21496646	.	T	C	222	PASS	LAMA3	Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epiligrin)	exonic	NM_000227,NM_001127717,NM_001127718,NM_198129	.	missense SNV	LAMA3:NM_001127718:exon22:c.T2915C:p.F972S,LAMA3:NM_000227:exon23:c.T3083C:p.F1028S,LAMA3:NM_001127717:exon59:c.T7742C:p.F2581S,LAMA3:NM_198129:exon60:c.T7910C:p.F2637S	ENST00000399516.7,ENST00000313654.13,ENST00000269217.10,ENST00000587184.5,ENSG00000053747.15,ENST00000586751.5,ENST00000588770.5	.	18q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1090	Concanavalin A-like lectin/glucanase domain;Laminin G domain	0.001,D	0.999,D	1.0,D	0.999999,D	.	2.84,M	-1.15,T	16.0863	2.197	5.408	5.604468,26.5	5.76	0.314943510221	VDB=0.140428;SGB=-0.690438;RPB=0.68579;MQB=9.2498e-06;MQSB=0.183205;BQB=0.651821;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=41;DP4=10,5,4,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:32:255,0,255:15,17	T	C	0	1	Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive	.	.	.	7921537|11326281|18374450|19016681|7633458|10656935|8618022|8530087|12915477|11810295|10366601|8077230|26370913|10233324|8586427	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_EMBRYO_DEVELOPMENT;GO_HEMIDESMOSOME_ASSEMBLY;GO_CELL_JUNCTION_ORGANIZATION;GO_ENDODERMAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_GASTRULATION;GO_ENDODERM_DEVELOPMENT;GO_EMBRYONIC_MORPHOGENESIS;GO_EPIDERMIS_DEVELOPMENT;GO_CELL_SUBSTRATE_JUNCTION_ASSEMBLY;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_CELL_JUNCTION_ASSEMBLY;GO_ENDODERM_FORMATION;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_EMBRYONIC_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_BASAL_LAMINA;GO_BASEMENT_MEMBRANE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT	GO_RECEPTOR_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_FRA_PATHWAY;PID_INTEGRIN4_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_SYNDECAN_2_PATHWAY	BIOCARTA_AGR_PATHWAY	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_CELL_JUNCTION_ORGANIZATION	Cytoplasmic expression predominantly in glandular epithelium and basement membranes.	http://www.proteinatlas.org/ENSG00000053747-LAMA3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	stomach: 22.6	cytoplasm; endoplasmic reticulum; vesicles	.	BP1, PM1, PM2, PP3
M	18	32826243	rs376307223	T	C	222	PASS	ZNF397	Zinc finger protein-397	exonic	NM_001135178	.	missense SNV	ZNF397:NM_001135178:exon4:c.T1574C:p.M525T	ENST00000589420.1,ENST00000355632.8,ENST00000261333.10,ENST00000330501.11,ENSG00000186812.12,ENST00000592264.1	.	18q12.2	.	.	.	.	.	rs376307223	.	.	0.00166113	0.003	0.000599042	.	0.00028020	182014	0.00430889	11836	0.00252623	0.00176056	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.433,T	0.001,B	0.0,B	1,N	0.785513,N	-1.135,N	1.3,T	3.3515	0.838	0.244	.	2.69	0.00572502702897	VDB=0.207169;SGB=-0.693097;RPB=0.19139;MQB=1.6396e-08;MQSB=0.972288;BQB=0.67473;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=81;DP4=15,15,13,17;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:31:.:.	0/1:60:255,0,255:30,30	T	C	0	1	Zinc finger protein-397, 609601	.	.	.	12801647	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Normal tissues showed moderate to strong cytoplasmic staining with a granular pattern. Bile duct cells, breast, testis and the lymph node exhibited strong immunoreactivity. Hepatocytes and neuronal cells in CNS were weakly stained.	http://www.proteinatlas.org/ENSG00000186812-ZNF397/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 14.2	nucleoli; plasma membrane; cytoplasm; cytoskeleton (microtubules)	.	BP4, PM1, PM2
H	18	32919934	rs148053646	G	A	222	PASS	ZNF24	Zinc finger protein-24 (KOX17)	exonic	NM_001308123,NM_006965	.	missense SNV	ZNF24:NM_001308123:exon3:c.C427T:p.L143F,ZNF24:NM_006965:exon3:c.C427T:p.L143F	ENST00000261332.10,ENSG00000172466.15,ENST00000399061.3,ENST00000589881.5	.	18q12.2	.	.	.	.	.	rs148053646	.	.	0.00664452	0.0089	0.00179712	.	0.00060068	276352	0.00881478	18832	0.00816168	0.00704225	.	0.5284	Transcription regulator SCAN	0.702,T	0.76,P	0.983,D	0.534957,N	0.002575,N	-0.69,N	3.51,T	6.5137	2.771	0.958	3.489365,23.1	3.59	0.00484242624931	VDB=0.152095;SGB=-0.692562;RPB=0.408591;MQB=7.05887e-06;MQSB=0.931063;BQB=0.786834;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=13,9,17,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:52:.:.	0/0:30:.:.	0/0:30:.:.	0/0:47:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:44:255,0,255:22,22	G	A	0	1	Zinc finger protein-24 (KOX17), 194534	.	.	.	10585455|2004757	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ENSHEATHMENT_OF_NEURONS	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000172466-ZNF24/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 28.7	nucleus	.	PM1
H	18	47511148	rs79714279	T	C	222	PASS	MYO5B	Myosin VB	exonic	NM_001080467	.	missense SNV	MYO5B:NM_001080467:exon8:c.A886G:p.I296V	ENSG00000167306.19,ENST00000285039.11	.	18q21.1	.	.	.	.	.	rs79714279	Uncertain significance;Diarrhea_with_Microvillus_Atrophy;RCV000359184.1;MedGen;CN239249	.	0.0199336	0.0119	0.00239617	.	0.00094906	277116	0.01394338	18862	0.01243684	0.00968310	.	0.7963	Myosin head, motor domain;P-loop containing nucleoside triphosphate hydrolase	0.085,T	0.402,B	0.422,B	1,D	0.000000,D	1.48,L	-1.94,D	15.2943	2.089	7.986	5.551929,26.4	5.51	.	VDB=0.689579;SGB=-0.692976;RPB=0.942031;MQB=7.77204e-09;MQSB=0.774217;BQB=0.796635;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=159;DP4=46,14,47,13;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:55:255,0,255:29,26	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:31,34	T	C	0	2	Microvillus inclusion disease, 251850 (3), Autosomal recessive	.	.	.	19006234|8884266|10574461|18724368|17507647|24014347|16214890|8855265	GO_CHEMICAL_HOMEOSTASIS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_VESICLE_MEDIATED_TRANSPORT;GO_RENAL_WATER_HOMEOSTASIS;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_WATER_HOMEOSTASIS;GO_SYSTEM_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_ORGANELLE_LOCALIZATION;GO_RENAL_SYSTEM_PROCESS	GO_VESICLE_MEMBRANE;GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_CELL_CORTEX_PART;GO_VACUOLE;GO_APICAL_PART_OF_CELL;GO_CELL_CORTEX_REGION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_MYOSIN_COMPLEX;GO_CELL_CORTEX;GO_CYTOPLASMIC_VESICLE_PART;GO_RECYCLING_ENDOSOME;GO_ENDOSOME	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_RAB_GTPASE_BINDING;GO_CALMODULIN_BINDING;GO_MICROFILAMENT_MOTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS	Distinct membranous and cytoplasmic expression in most cell types.	http://www.proteinatlas.org/ENSG00000167306-MYO5B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	small intestine: 44.6	vesicles; nucleus but not nucleoli; cytoskeleton (intermediate filaments)	.	.
H	18	65179096	rs764868955	C	T	222	PASS	DSEL	Dermatan sulfate epimerase-like	exonic	NM_032160	.	missense SNV	DSEL:NM_032160:exon2:c.G2780A:p.R927H	ENST00000310045.7,ENSG00000171451.13,ENSG00000263424.1,ENST00000583493.1	.	18q22.1	.	.	.	.	.	rs764868955	.	.	.	.	.	.	0.00004329	277172	.	.	0.00019433	.	.	.	Sulfotransferase domain	0.229,T	0.005,B	0.004,B	0.997228,N	0.013994,N	0.835,L	2.21,T	8.6542	1.126	1.255	3.914519,23.5	4.24	0.00297474648235	VDB=0.163017;SGB=-0.693146;RPB=0.784043;MQB=3.38977e-10;MQSB=0.910002;BQB=0.165619;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=112;DP4=32,14,29,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:88:255,0,255:46,42	C	T	0	1	Dermatan sulfate epimerase-like, 611125	.	.	.	12556911|16505484	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_AMINOGLYCAN_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_DERMATAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_AMINOGLYCAN_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS;GO_MUCOPOLYSACCHARIDE_METABOLIC_PROCESS;GO_DERMATAN_SULFATE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_RACEMASE_AND_EPIMERASE_ACTIVITY;GO_SULFOTRANSFERASE_ACTIVITY;GO_ISOMERASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000171451-DSEL/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 5.4	.	.	PM1, PM2
L	18	74153712	rs113225589	G	A	222	PASS	ZNF516	Zinc finger protein 516	exonic	NM_014643	.	synonymous SNV	ZNF516:NM_014643:exon3:c.C1299T:p.Y433Y	ENSG00000101493.10,ENST00000443185.6	CpG: 179	18q23	.	.	.	.	.	rs113225589	.	.	0.0182724	0.0179	0.013778	0.0160	0.02194359	201380	0.03422290	14464	0.03595025	0.03634752	.	0.0417	.	.	.	.	.	.	.	.	.	1.174	1.230	.	3.84	.	VDB=0.903499;SGB=-0.693147;RPB=0.620283;MQB=9.42403e-16;MQSB=0.725612;BQB=0.705329;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=157;DP4=47,8,51,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:63:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:54:.:.	0/0:51:.:.	0/1:125:255,0,255:55,70	G	A	0	1	Zinc finger protein 516, 615114	.	.	.	23446422|9039502	GO_RESPONSE_TO_COLD;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_BROWN_FAT_CELL_DIFFERENTIATION;GO_FAT_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_ADIPOSE_TISSUE_DEVELOPMENT;GO_TISSUE_DEVELOPMENT	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	Most normal tissues exhibited weak to moderate granular cytoplasmic positivity. Strong staining was observed in parathyroid gland, nasopharynx and a subset of leukocytes. Decidual cells and cells in ductus seminiferus displayed distinct nuclear positivity. Non-neuronal cells, hepatocytes and smooth muscle were negative.	http://www.proteinatlas.org/ENSG00000101493-ZNF516/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 25.3	nucleus but not nucleoli; cytoplasm	.	BS1
H-	19	681642	.	C	G	222	PASS	FSTL3	Follistatin-like 3	splicing	NM_005860	NM_005860:exon5:c.734-8C>G	.	.	ENST00000605925.3,ENST00000591573.1,ENST00000592947.5,ENSG00000070404.9,ENST00000166139.8,ENST00000588773.5,ENST00000592058.3	.	19p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003,0.054	-0.9458	.	.	.	.	.	.	.	.	.	-1.821	0.221	.	.	.	VDB=0.0534997;SGB=-0.693147;RPB=0.846336;MQB=2.36955e-12;MQSB=0.988617;BQB=0.870666;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=96;DP4=9,29,11,38;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:52:.:.	0/0:50:.:.	0/1:87:255,0,255:38,49	C	G	0	1	Follistatin-like 3, 605343	.	.	.	11571638|9671416|17229845|8499640|15451564|11459787|11010968	GO_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_REGULATION_OF_HEMOPOIESIS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_TUBE_DEVELOPMENT;GO_ADRENAL_GLAND_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_OSSIFICATION;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_SEX_DIFFERENTIATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_BMP_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_ENDOCRINE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_MALE_SEX_DIFFERENTIATION;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_SECRETORY_GRANULE;GO_NEURON_PROJECTION_TERMINUS;GO_SECRETORY_VESICLE;GO_NEURON_PART;GO_INTRACELLULAR_VESICLE;GO_NEURON_PROJECTION;GO_EXTRACELLULAR_SPACE;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_GOLGI_APPARATUS	GO_PROTEIN_COMPLEX_BINDING;GO_FIBRONECTIN_BINDING;GO_ACTIVIN_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000070404-FSTL3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 128.7	nucleus but not nucleoli	.	PM2
H	19	1031136	.	C	T	174	PASS	CNN2	Calonin 2	exonic	NM_001303499,NM_001303501,NM_004368,NM_201277	.	missense SNV	CNN2:NM_001303499:exon2:c.C130T:p.L44F,CNN2:NM_001303501:exon2:c.C130T:p.L44F,CNN2:NM_004368:exon2:c.C130T:p.L44F,CNN2:NM_201277:exon2:c.C130T:p.L44F	ENST00000562015.5,ENST00000606983.5,ENSG00000064666.14,ENST00000566695.5,ENST00000348419.7,ENST00000607102.1,ENST00000562958.6,ENST00000569352.6,ENST00000263097.8,ENST00000562075.6,ENST00000565096.6	.	19p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1437	Calponin homology domain	0.049,D	0.015,B	0.015,B	1,N	0.528668,U	0.875,L	0.23,T	9.6853	0.813	-0.123	.	2.79	0.162853783642	VDB=0.253803;SGB=-0.676189;RPB=0.522385;MQB=0.0744668;MQSB=1;BQB=0.954874;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=28;DP4=9,0,10,1;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:20:207,0,169:9,11	C	T	0	1	Calonin 2, 602373	.	.	.	7829105|8889829	GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ACTOMYOSIN_STRUCTURE_ORGANIZATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CELLULAR_RESPONSE_TO_MECHANICAL_STIMULUS;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS	GO_ACTIN_CYTOSKELETON;GO_ACTIN_FILAMENT_BUNDLE;GO_ACTOMYOSIN;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_CALMODULIN_BINDING	.	.	.	.	Cytoplasmic expression in immune cells.	http://www.proteinatlas.org/ENSG00000064666-CNN2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 158.6	cytoplasm; nucleus but not nucleoli; cytoskeleton (actin filaments)	.	PM1, PM2
M	19	1044589	rs143296441	T	C	222	PASS	ABCA7	ATP-binding cassette, subfamily A, member 7	exonic	NM_019112	.	missense SNV	ABCA7:NM_019112:exon11:c.T1061C:p.M354T	ENST00000433129.5,ENST00000263094.10,ENSG00000064687.12,ENST00000435683.6	.	19p13.3	.	.	.	.	.	rs143296441	.	.	0.0199336	0.0218	0.00459265	7.7e-05	0.00129139	275672	0.01687719	18842	0.00933126	0.00481696	.	-0.3982	.	0.364,T	0.019,B	0.008,B	1,N	.	0.895,L	-2.03,D	3.8411	-0.586	-0.476	.	.	.	VDB=0.127728;SGB=-0.693141;RPB=0.447653;MQB=9.34402e-10;MQSB=0.761144;BQB=0.74103;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=98;DP4=22,17,21,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:99:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:76:255,0,255:39,37	T	C	0	1	{Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant	.	.	.	11435699|26141617|21460840|10873640|11095984|27037229|27066581|26260791|25807283|11355874|26101835	GO_MEMORY;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_POSITIVE_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MEMBRANE_INVAGINATION;GO_PEPTIDE_CROSS_LINKING;GO_NEGATIVE_REGULATION_OF_ATPASE_ACTIVITY;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_POSITIVE_REGULATION_OF_STEROL_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_LIPID_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION;GO_POSITIVE_REGULATION_OF_LIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_ANION_TRANSPORT;GO_CHOLESTEROL_EFFLUX;GO_REGULATION_OF_AMYLOID_PRECURSOR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_PHOSPHOLIPID_SCRAMBLING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PROTEIN_LIPID_COMPLEX_SUBUNIT_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ORGANIC_ANION_TRANSPORT;GO_REGULATION_OF_LIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_PHAGOCYTOSIS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_STEROL_TRANSPORT;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_PHOSPHOLIPID_TRANSPORT;GO_REGULATION_OF_ATPASE_ACTIVITY;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_MEMBRANE_ORGANIZATION;GO_STEROL_TRANSPORT;GO_REGULATION_OF_PHAGOCYTOSIS;GO_REGULATION_OF_MEMBRANE_INVAGINATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_LIPID_LOCALIZATION;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ENDOCYTOSIS;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_ANION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ATPASE_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORT;GO_PHAGOCYTOSIS;GO_PHOSPHOLIPID_EFFLUX;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_BEHAVIOR;GO_POSITIVE_REGULATION_OF_ANION_TRANSPORT	GO_VACUOLE;GO_CELL_PROJECTION_MEMBRANE;GO_APICAL_PART_OF_CELL;GO_GOLGI_APPARATUS_PART;GO_CELL_JUNCTION;GO_EARLY_ENDOSOME_MEMBRANE;GO_LEADING_EDGE_MEMBRANE;GO_PHAGOCYTIC_CUP;GO_RUFFLE_MEMBRANE;GO_GOLGI_MEMBRANE;GO_ATPASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_VACUOLAR_PART;GO_CELL_SURFACE;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_APICAL_PLASMA_MEMBRANE;GO_ENDOSOMAL_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_GOLGI_APPARATUS;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_VACUOLAR_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_LIPID_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOLIPID_TRANSPORTER_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	Selective cytoplasmic expression in lymphoid cells.	http://www.proteinatlas.org/ENSG00000064687-ABCA7/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 22.3	plasma membrane; golgi apparatus; cell junctions	.	BP4
H	19	1085857	rs201676233	G	A	107	PASS	ARHGAP45	.	exonic	NM_001258328,NM_001282334,NM_001282335,NM_001321232,NM_012292	.	missense SNV	ARHGAP45:NM_001282334:exon13:c.G2168A:p.G723E,ARHGAP45:NM_001282335:exon22:c.G2912A:p.G971E,ARHGAP45:NM_001258328:exon23:c.G3311A:p.G1104E,ARHGAP45:NM_001321232:exon23:c.G3275A:p.G1092E,ARHGAP45:NM_012292:exon23:c.G3263A:p.G1088E	ENST00000539243.6,ENSG00000180448.10,ENST00000591169.2,ENST00000590577.2,ENST00000586866.5,ENST00000313093.6,ENST00000590214.5,ENST00000586378.5,ENST00000592297.2,ENST00000587602.5,ENST00000543365.5	.	19p13.3	.	.	.	.	.	rs201676233	.	.	.	.	.	.	0.00003276	274716	0.00042635	18764	0.00184405	0.00147059	.	.	.	0.28,T	0.342,B	0.798,P	1,N	0.126425,U	1.385,L	2.14,T	6.3942	0.029	-0.354	.	.	0.0201056573397	VDB=3.58228e-21;SGB=-0.693147;RPB=2.64098e-22;MQB=9.10179e-11;MQSB=0.243614;BQB=0.00304079;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=254;DP4=84,63,22,23;MinDP=100;AN=16;AC=1	GT:DP:PL:AD	0/0:100:.:.	./.:.:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:192:141,0,255:147,45	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	High expression in immune cells.	http://www.proteinatlas.org/ENSG00000180448-HMHA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 42.4	.	.	PM2
H	19	1085857	rs569104923	G	GGGACGA	225	PASS	ARHGAP45	.	exonic	NM_001258328,NM_001282334,NM_001282335,NM_001321232,NM_012292	.	nonframeshift insertion	ARHGAP45:NM_001282334:exon13:c.2168_2169insGGACGA:p.G723delinsGDE,ARHGAP45:NM_001282335:exon22:c.2912_2913insGGACGA:p.G971delinsGDE,ARHGAP45:NM_001258328:exon23:c.3311_3312insGGACGA:p.G1104delinsGDE,ARHGAP45:NM_001321232:exon23:c.3275_3276insGGACGA:p.G1092delinsGDE,ARHGAP45:NM_012292:exon23:c.3263_3264insGGACGA:p.G1088delinsGDE	ENST00000313093.6,ENST00000543365.5,ENST00000590214.5,ENST00000586866.5,ENST00000539243.6,ENST00000586378.5,ENST00000592297.2,ENST00000591169.2,ENST00000587602.5,ENSG00000180448.10,ENST00000590577.2	.	19p13.3	.	.	.	.	.	rs569104923	.	.	0.0232558	0.0308	0.00638978	0.0100	0.00184918	274716	0.02366233	18764	0.00876168	0.02112676	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689636,7.684	.	.	INDEL;VDB=0.00345525;SGB=-0.693147;MQSB=0.337007;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=548;DP4=79,36,201,117;IDV=163;IMF=0.641732;MinDP=100;AN=18;AC=3	GT:DP:PL:AD	0/0:100:.:.	0/1:235:255,0,255:115,120	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	1/1:198:255,255,0:0,198	G	GGGACGA	1	1	.	.	.	.	.	.	.	.	.	.	.	.	High expression in immune cells.	http://www.proteinatlas.org/ENSG00000180448-HMHA1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 42.4	.	.	PM4
H-	19	1487249	rs200868171	G	A	222	PASS	PCSK4	Proprotein convertase subtilisin/kexin type 4	exonic	NM_017573	.	missense SNV	PCSK4:NM_017573:exon7:c.C746T:p.P249L	ENST00000586616.5,ENST00000300954.9,ENSG00000115257.15,ENST00000441747.6,ENST00000588671.2,ENST00000587784.5,ENST00000588195.5,ENST00000591201.5	CpG: 47	19p13.3	.	.	.	.	.	rs200868171	.	.	0.00498339	0.004	0.000798722	.	0.00038623	264090	0.00402749	18622	0.00621842	0.00796460	.	0.0359	Peptidase S8/S53 domain	0.014,D	1.0,D	1.0,D	1,D	0.018287,U	1.855,L	-2.2,D	14.2003	1.742	4.142	6.122262,28.3	3.63	0.523627758086	VDB=0.126687;SGB=-0.693145;RPB=0.887845;MQB=6.18499e-12;MQSB=0.907599;BQB=0.953719;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=261;DP4=48,54,37,55;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:91:255,0,255:51,40	0/0:51:.:.	0/0:50:.:.	0/1:103:255,0,255:51,52	G	A	0	2	Proprotein convertase subtilisin/kexin type 4, 600487	.	.	.	11776387|7782070|16040806	GO_SINGLE_FERTILIZATION;GO_PROTEIN_MATURATION;GO_MALE_GAMETE_GENERATION;GO_SPERM_CAPACITATION;GO_SEXUAL_REPRODUCTION;GO_CELL_MATURATION;GO_SPERM_EGG_RECOGNITION;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_ACROSOME_REACTION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELL_RECOGNITION;GO_FERTILIZATION;GO_SPERMATID_DIFFERENTIATION;GO_CELL_CELL_RECOGNITION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA;GO_DEVELOPMENTAL_MATURATION;GO_PROTEOLYSIS	GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_VESICLE_MEMBRANE;GO_ACROSOMAL_MEMBRANE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_EXTRACELLULAR_SPACE;GO_SECRETORY_GRANULE_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ACROSOMAL_VESICLE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	RNA data suggests expression in testis.	http://www.proteinatlas.org/ENSG00000115257-PCSK4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 3.0	.	.	PM1, PP3
H-	19	2762651	rs200679965	G	C	222	PASS	SGTA	Small glutamine-rich tetratricopeptide repeat-containing protein, alpha	splicing	NM_003021	NM_003021:exon7:c.498-9C>G	.	.	ENSG00000104969.9,ENST00000221566.6	.	19p13.3	.	.	.	.	.	rs200679965	.	.	0.00166113	0.001	0.000199681	.	0.00005297	245434	0.00069597	17242	0.00038865	.	0.0002,0.02	-4.0594	.	.	.	.	.	.	.	.	.	-0.810	1.018	.	.	.	VDB=3.41372e-05;SGB=-0.693143;RPB=0.192111;MQB=4.21401e-11;MQSB=0.863809;BQB=0.763689;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=96;DP4=13,22,16,22;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:73:255,0,255:35,38	G	C	0	1	Small glutamine-rich tetratricopeptide repeat-containing protein, alpha, 603419	.	.	.	9740675|11580898	GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_ERAD_PATHWAY;GO_POSITIVE_REGULATION_OF_ERAD_PATHWAY	.	GO_PROTEASOME_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Nuclear and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000104969-SGTA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 31.9	nucleus but not nucleoli	.	PM2
H	19	3179017	rs747048810	G	A	222	PASS	S1PR4	Sphingosine-1-phosphate receptor 4	exonic	NM_003775	.	missense SNV	S1PR4:NM_003775:exon1:c.G227A:p.R76Q	ENSG00000125910.5,ENST00000591346.1,ENST00000246115.4	CpG: 89	19p13.3	.	.	.	.	.	rs747048810	.	.	.	.	.	.	0.00018632	246882	0.00011232	17806	0.00019433	.	.	.	GPCR, rhodopsin-like, 7TM	0.002,D	0.968,D	1.0,D	0.985107,D	0.005235,N	2.765,M	-0.67,T	6.2051	0.678	2.551	2.600434,20.2	2.68	0.213991707023	VDB=0.315926;SGB=-0.693147;RPB=0.887105;MQB=6.93494e-23;MQSB=0.570271;BQB=0.650241;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=196;DP4=64,16,54,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:99:.:.	0/0:50:.:.	0/0:100:.:.	0/1:153:255,0,255:80,73	G	A	0	1	Sphingosine-1-phosphate receptor 4, 603751	.	.	.	12037142|12401211|9790765|8404068	GO_POSITIVE_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_CHEMICAL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_ACTIVATION_OF_PHOSPHOLIPASE_C_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_SPHINGOLIPID_MEDIATED_SIGNALING_PATHWAY;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PHOSPHOLIPASE_ACTIVITY;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_IMMUNE_RESPONSE;GO_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_LIPASE_ACTIVITY;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_HOMEOSTASIS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_BIOACTIVE_LIPID_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_LIPID_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_S1P_S1P4_PATHWAY;PID_S1P_META_PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	Gastrointestinal tract, granular layer of cerebellum, renal tubules, heart and ducts in salivary gland along with a subset of cells in respiratory epithelia, adrenal gland, thyroid and exocrine pancreas showed moderate to strong cytoplasmic staining. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000125910-S1PR4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 9.9	.	.	PM1, PM2, PP3
H	19	3959299	rs200352688	C	T	222	PASS	DAPK3	.	exonic	NM_001348	.	missense SNV	DAPK3:NM_001348:exon9:c.G1165A:p.E389K	ENST00000595279.1,ENSG00000167657.13,ENST00000301264.7,ENST00000545797.6	CpG: 122	19p13.3	.	.	.	.	.	rs200352688	.	.	.	.	.	7.7e-05	0.00058047	246350	0.00561550	18164	0.00369219	0.00793651	.	.	.	0.081,T	0.072,B	0.837,P	0.998977,D	0.000007,D	1.355,L	-0.38,T	17.0728	2.279	5.792	3.564790,23.1	4.91	0.0381269042352	VDB=0.109335;SGB=-0.693147;RPB=0.919007;MQB=5.72393e-16;MQSB=0.600517;BQB=0.998876;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=132;DP4=31,20,30,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:106:255,0,255:51,55	C	T	0	1	.	.	.	.	.	GO_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_AUTOPHAGY;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_CELL_DEATH;GO_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_REGULATION_OF_CELL_JUNCTION_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_DEFENSE_RESPONSE;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_REGULATION_OF_ADHERENS_JUNCTION_ORGANIZATION;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_ABSENCE_OF_LIGAND;GO_INNATE_IMMUNE_RESPONSE;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_CELL_MATRIX_ADHESION;GO_REGULATION_OF_CELL_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_CYTOKINESIS;GO_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_CELL_SHAPE;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_ACTIN_CYTOSKELETON;GO_NUCLEAR_BODY;GO_PML_BODY;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_NUCLEOPLASM_PART;GO_MEMBRANE_MICRODOMAIN;GO_SUPRAMOLECULAR_FIBER;GO_ACTIN_FILAMENT;GO_MEMBRANE_REGION	GO_LEUCINE_ZIPPER_DOMAIN_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_RHO_GTPASE_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PROTEIN_C_TERMINUS_BINDING;GO_KINASE_ACTIVITY;GO_LRR_DOMAIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	.	.	REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_ROLE_OF_DCC_IN_REGULATING_APOPTOSIS;REACTOME_APOPTOSIS	Most of the normal cells showed weak to moderate cytoplasmic positivity. Smooth muscle cells, decidual cells and subsets of hematopoietic cells were strongly stained. The liver, pancreatic islets and spleen were negative.	http://www.proteinatlas.org/ENSG00000167657-DAPK3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 44.1	nucleus	.	.
H	19	4215971	rs781002934	C	G	222	PASS	ANKRD24	.	splicing	NM_133475	NM_133475:exon16:c.1198-4C>G	.	.	ENST00000600132.5,ENST00000595096.1,ENST00000318934.8,ENSG00000089847.12,ENST00000262970.9,ENST00000597689.5	.	19p13.3	.	.	.	.	.	rs781002934	.	.	.	.	.	.	0.00014843	229070	0.00215630	15304	0.00077730	.	0,0.004	-0.0879	.	.	.	.	.	.	.	.	.	0.557	0.323	.	.	.	VDB=0.415488;SGB=-0.693147;RPB=0.921801;MQB=8.18861e-29;MQSB=0.0326228;BQB=0.949947;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=273;DP4=65,41,78,20;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:204:255,0,255:106,98	C	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA data suggests expression in a selected group of tissues, most abundant in cerebral cortex. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000089847-ANKRD24/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	kidney: 0.8	cytoplasm; cytoskeleton (microtubules)	.	PM2
H-	19	4511538	rs370035165	C	T	56	PASS	PLIN4	Perilipin 4	exonic	NM_001080400	.	missense SNV	PLIN4:NM_001080400:exon3:c.G2392A:p.G798R	ENSG00000167676.4,ENST00000633942.1,ENST00000301286.4	.	19p13.3	.	.	.	.	.	rs370035165	.	.	.	.	.	7.9e-05	0.00001449	275984	.	.	.	.	.	0.0470	.	0.004,D	0.997,D	0.999,D	0.92947,N	0.002607,U	2.54,M	2.41,T	7.6381	2.092	-1.310	4.943160,25.0	3.54	0.0536491990145	VDB=5.14874e-19;SGB=-0.693147;RPB=2.3608e-15;MQB=1.44658e-09;MQSB=0.940812;BQB=0.778934;MQ0F=0;ICB=1;HOB=0.5;MQ=37;DP=238;DP4=94,76,43,9;MinDP=109;AN=18;AC=1	GT:DP:PL:AD	0/0:109:.:.	0/0:161:.:.	0/0:179:.:.	0/0:151:.:.	0/0:140:.:.	0/0:121:.:.	0/0:125:.:.	0/0:238:.:.	0/1:222:90,0,255:170,52	C	T	0	1	Perilipin 4, 613247	.	.	.	11572484|12840023	.	GO_LIPID_PARTICLE	.	.	.	.	.	Selective cytoplasmic expression in adipocytes.	http://www.proteinatlas.org/ENSG00000167676-PLIN4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skeletal muscle: 41.2	plasma membrane; cytoplasm; vesicles	.	PM2
M	19	5455639	rs374447341	G	A	222	PASS	ZNRF4	Zinc finger and ring finger protein 4	exonic	NM_181710	.	missense SNV	ZNRF4:NM_181710:exon1:c.G137A:p.R46Q	ENSG00000105428.5,ENST00000222033.5	CpG: 74	19p13.3	.	.	.	.	.	rs374447341	.	.	0.00166113	0.001	0.000199681	.	0.00003291	273510	0.00021245	18828	.	.	.	.	.	0.356,T	0.0,B	0.001,B	1,N	.	0.345,N	3.63,T	3.2971	0.083	-0.282	.	.	0.0171351480739	VDB=0.403129;SGB=-0.693146;RPB=0.429628;MQB=9.61628e-09;MQSB=0.961908;BQB=0.999987;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=107;DP4=28,6,32,12;MinDP=51;AN=18;AC=1	GT:DP:PL:AD	0/0:76:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:77:.:.	0/0:73:.:.	0/0:60:.:.	0/0:71:.:.	0/1:78:255,0,255:34,44	G	A	0	1	Zinc finger and ring finger protein 4, 612063	.	.	.	10191088	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000105428-ZNRF4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM2
H	19	5914650	rs199930097	G	A	222	PASS	CAPS	Calcyphosine	exonic	NM_004058,NM_080590	.	missense SNV	CAPS:NM_004058:exon3:c.G418A:p.G140R,CAPS:NM_080590:exon3:c.G418A:p.G140R	ENST00000585541.1,ENST00000452990.7,ENST00000588891.1,ENSG00000267314.1,ENST00000590428.1,ENST00000588776.6,ENST00000588865.2,ENSG00000105519.15	.	19p13.3	.	.	.	.	.	rs199930097	.	.	0	0.001	0.00419329	.	0.00285159	276688	0.00132528	18864	0.00097163	.	.	-0.1228	EF-hand domain;EF-hand domain pair	0.021,D	0.999,D	1.0,D	0.99981,D	0.000000,D	3.195,M	-0.71,T	15.7965	2.315	4.599	5.690652,26.8	4.98	.	VDB=0.00287543;SGB=-0.693147;RPB=0.182332;MQB=1.15073e-18;MQSB=0.707995;BQB=0.487869;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=210;DP4=43,37,41,37;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:158:255,0,255:80,78	G	A	0	1	Calcyphosine, 114212	.	.	.	9224948|2540953|2265558	GO_MACROAUTOPHAGY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_AUTOPHAGY;GO_MITOCHONDRION_ORGANIZATION;GO_MACROMITOPHAGY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ORGANELLE_DISASSEMBLY	.	GO_CALCIUM_ION_BINDING	.	.	.	.	Cytoplasmic expression in ciliated cells in respirtatory epithelia and fallopian tube, additional cytoplasmic expression in endometrium.	http://www.proteinatlas.org/ENSG00000105519-CAPS/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lung: 43.6	cytoplasm	.	PM1, PM2, PP3
H	19	6751068	.	T	A	67	PASS	TRIP10	Thyroid hormone receptor interactor 10	exonic;splicing	NM_001288963,NM_001288962,NM_004240	NM_001288962:exon15:c.1658-6T>A;NM_004240:exon14:c.1490-6T>A	missense SNV	TRIP10:NM_001288963:exon14:c.T1513A:p.S505T	ENST00000595305.5,ENST00000313244.13,ENST00000600428.5,ENST00000594056.1,ENST00000313285.12,ENST00000596758.5,ENST00000600677.5,ENSG00000269680.1,ENSG00000125733.17	.	19p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01885692	.	.	.	.	0.024,D	0.0,B	0.0,B	1,D	.	.	.	7.1777	0.012	0.252	.	.	0.0145472889707	VDB=6.10723e-05;SGB=-0.683931;RPB=0.613793;MQB=0.000425852;MQSB=0.169171;BQB=0.354922;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=572;DP4=82,92,66,0;MinDP=42;AN=16;AC=6	GT:DP:PL:AD	0/0:50:.:.	0/1:46:98,0,255:33,13	0/1:41:64,0,255:32,9	0/0:42:.:.	0/1:33:101,0,255:23,10	0/1:31:78,0,255:21,10	./.:.:.:.	0/1:30:56,0,255:24,6	0/1:59:90,0,255:41,18	T	A	0	6	Thyroid hormone receptor interactor 10, 604504	.	.	.	9210375|19920150|12604778|7776974|16343437|12054674	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_ENDOCYTOSIS;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_CYTOPLASMIC_REGION;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_PHAGOCYTIC_CUP;GO_CYTOSKELETON;GO_CELL_CORTEX;GO_LYTIC_VACUOLE;GO_CELL_PROJECTION;GO_GOLGI_APPARATUS;GO_ORGANELLE_SUBCOMPARTMENT	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ARF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_LIPID_BINDING	KEGG_INSULIN_SIGNALING_PATHWAY	PID_INSULIN_PATHWAY;PID_INSULIN_GLUCOSE_PATHWAY	.	.	.	http://www.proteinatlas.org/ENSG00000125733-TRIP10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 94.3	vesicles; nucleus but not nucleoli	.	.
H	19	8993009	.	C	G	88	PASS	MUC16	Mucin 16	exonic	NM_024690	.	missense SNV	MUC16:NM_024690:exon67:c.G41750C:p.S13917T	ENST00000601404.5,ENST00000397910.8,ENSG00000181143.15,ENST00000596768.5,ENST00000599436.1	.	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0,0	-1.3626	SEA domain	0.606,T	0.931,D	0.644,P	1,N	.	2.52,M	1.21,T	1.6165	-0.380	-1.192	1.802012,15.00	.	0.00593288348425	VDB=0.293058;SGB=-0.616816;RPB=0.0939672;MQB=0.0129349;MQSB=0.945479;BQB=0.676174;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=29;DP4=15,1,4,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:22:122,0,249:16,6	C	G	0	1	Mucin 16, 606154	.	.	.	12766047|11369781	GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_O_GLYCAN_PROCESSING;GO_PROTEIN_O_LINKED_GLYCOSYLATION;GO_BIOLOGICAL_ADHESION;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_EXTRACELLULAR_SPACE;GO_GOLGI_APPARATUS;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_GOLGI_LUMEN	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	Selective expression in mucinous cells of respiratory epithelia, salivary gland and cervix. Membranous expression in glandular cells of fallopian tube, uterus and ductal cells in salivary gland.	http://www.proteinatlas.org/ENSG00000181143-MUC16/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 0.9	.	.	PM1, PM2
H	19	9727837	rs200486363	G	A	222	PASS	ZNF561	.	exonic	NM_152289	.	missense SNV	ZNF561:NM_152289:exon4:c.C125T:p.T42M	ENST00000444802.5,ENST00000479943.5,ENST00000483768.1,ENST00000457965.5,ENST00000470932.5,ENST00000444611.5,ENSG00000171469.10,ENST00000326044.9,ENST00000495503.5,ENST00000302851.7,ENST00000444519.5,ENST00000424629.5,ENST00000421525.5,ENST00000465974.5,ENST00000443819.5	.	19p13.2	.	.	.	.	.	rs200486363	.	.	0.00332226	0.002	0.000599042	.	0.00037591	276660	0.00270902	18826	0.00233191	0.00352113	.	-0.5420	Krueppel-associated box	0.0,D	0.528,P	0.941,P	1,N	.	2.76,M	4.06,T	4.1746	0.269	0.587	3.430600,23.0	.	0.001079829683	VDB=0.279159;SGB=-0.693147;RPB=0.650615;MQB=9.1003e-22;MQSB=0.388785;BQB=0.896823;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=227;DP4=54,34,60,23;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:171:255,0,255:88,83	G	A	0	1	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Cytoplasmic expression in several different tissue types.	http://www.proteinatlas.org/ENSG00000171469-ZNF561/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	smooth muscle: 22.0	nucleus but not nucleoli	.	PM1, PM2
M	19	10222410	rs140237295	G	A	222	PASS	P2RY11	Purinergic receptor P2Y, G protein-coupled, 11	exonic	NM_002566	.	missense SNV	P2RY11:NM_002566:exon1:c.G13A:p.V5I	ENST00000321826.4,ENSG00000243207.6,ENST00000393796.4,ENSG00000244165.1,ENST00000428358.5	.	19p13.2	.	.	.	.	.	rs140237295	.	.	0.0348837	0.0278	0.00998403	0.0005	0.01005838	273404	0.03088188	18846	0.01884959	0.01763668	.	.	.	0.606,T	0.0,B	0.001,B	1,N	.	0,N	0.1,T	5.8916	-0.521	-1.641	.	.	.	VDB=0.0159808;SGB=-0.693097;RPB=0.828844;MQB=9.10642e-09;MQSB=0.521663;BQB=0.589388;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=88;DP4=22,10,15,15;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:51:.:.	0/1:62:255,0,255:32,30	G	A	0	1	Purinergic receptor P2Y, G protein-coupled, 11, 602697	.	.	.	9405388|11278528	GO_G_PROTEIN_COUPLED_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_LYASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_G_PROTEIN_COUPLED_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_ACTIVATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_LYASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CALCIUM_MEDIATED_SIGNALING;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ATP;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_ATP;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_SYNAPTIC_SIGNALING;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_INVOLVED_IN_CELL_CELL_SIGNALING;GO_PURINERGIC_NUCLEOTIDE_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PURINERGIC_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POSTSYNAPSE;GO_SYNAPSE;GO_SYNAPSE_PART	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_NEUROTRANSMITTER_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_P2Y_RECEPTORS;REACTOME_NUCLEOTIDE_LIKE_PURINERGIC_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	Strong cytoplasmic immunoreactivity with a granular pattern was observed in most normal tissues. The gall bladder, pancreas, thyroid and prostate glands displayed moderate staining whereas hepatocytes and most neuronal cells were weakly positive. Glomeruli and bile duct cells were negative.	http://www.proteinatlas.org/ENSG00000244165-P2RY11/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 5.3	.	.	BP4
M	19	10291133	rs762241565	G	C	222	PASS	DNMT1	DNA methyltransferase 1	exonic	NM_001130823,NM_001318730,NM_001379	.	missense SNV	DNMT1:NM_001130823:exon4:c.C338G:p.A113G,DNMT1:NM_001318730:exon4:c.C338G:p.A113G,DNMT1:NM_001379:exon4:c.C338G:p.A113G	ENST00000586988.5,ENST00000588118.5,ENST00000540357.5,ENST00000588952.5,ENST00000592705.5,ENST00000592054.5,ENST00000592342.5,ENSG00000130816.14,ENST00000340748.8,ENST00000359526.8,ENST00000586800.5	.	19p13.2	.	.	.	.	.	rs762241565	.	.	.	.	.	.	0.00002030	246260	0.00011596	17248	.	.	.	0.2517	.	0.364,T	0.033,B	0.073,B	1,N	0.686114,N	0.695,N	1.55,T	1.7726	-0.147	0.929	.	.	0.0183262814891	VDB=0.146847;SGB=-0.69312;RPB=0.86831;MQB=0.0216504;MQSB=0.997761;BQB=0.799383;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=85;DP4=19,14,20,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:101:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:65:255,0,255:33,32	G	C	0	1	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant	.	.	.	18194272|9333948|1968655|11005794|3210246|10721735|11884600|10753866|17673620|17322882|9302295|24107992|2014266|19246518|15657147|10615135|16998846|12702876|14749379|17960246|11074872|15215866|10210919|11290321|10449766|19433415|15311210|12145218|12473678|23365052|21532572|11728338|1606615|10545955|8747854|9449671|17359920|14978102|24013172|12915469|11932749|10801130|12496760|10888886|10325416|1559980|10888872|20081831|17994007|17470536|21163962|22323818|17312023|11940649|8917520|14684836|15684088|16357870|19098913|22328086|7898717|10433969|14615517|1594447|8940105|15870198	GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_ETHANOL;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_IONIZING_RADIATION;GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_REGULATION_OF_HISTONE_METHYLATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ESTRADIOL;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_STEROID_HORMONE;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_HEAT;GO_COFACTOR_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_HISTONE_H3_K4_METHYLATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_HISTONE_MODIFICATION;GO_AGING;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_TESTOSTERONE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_DNA_MODIFICATION;GO_RESPONSE_TO_ALKALOID;GO_NEGATIVE_REGULATION_OF_HISTONE_METHYLATION;GO_REGULATION_OF_CHROMATIN_SILENCING;GO_RESPONSE_TO_BACTERIUM;GO_S_ADENOSYLMETHIONINE_METABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_PLATELET_DERIVED_GROWTH_FACTOR;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_DNA_METHYLATION;GO_RESPONSE_TO_ESTROGEN;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HISTONE_H3_K9_METHYLATION;GO_CHROMATIN_ORGANIZATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_RADIATION;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_RESPONSE_TO_CAFFEINE;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEUROGENESIS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_AMINO_ACID;GO_RESPONSE_TO_VITAMIN_A;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_GENE_SILENCING;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_HEAD_DEVELOPMENT;GO_COENZYME_METABOLIC_PROCESS;GO_REGULATION_OF_HISTONE_H3_K4_METHYLATION;GO_RESPONSE_TO_DRUG;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_DNA_METHYLATION_OR_DEMETHYLATION;GO_RESPONSE_TO_GROWTH_FACTOR;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STIMULUS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_VITAMIN;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_HISTONE_METHYLATION;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEURON_DIFFERENTIATION;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_METHYLATION;GO_RESPONSE_TO_NUTRIENT;GO_MACROMOLECULE_METHYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_RESPONSE_TO_ALCOHOL;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_REGULATION_OF_GENE_SILENCING;GO_RESPONSE_TO_LEAD_ION;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_DNA_METABOLIC_PROCESS;GO_DNA_ALKYLATION;GO_RESPONSE_TO_ACTIVITY;GO_S_ADENOSYLHOMOCYSTEINE_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_NEURON_PART;GO_CHROMATIN;GO_PERICENTRIC_HETEROCHROMATIN;GO_HETEROCHROMATIN;GO_REPLICATION_FORK;GO_CELL_BODY;GO_SOMATODENDRITIC_COMPARTMENT	GO_HORMONE_RECEPTOR_BINDING;GO_ESTROGEN_RECEPTOR_BINDING;GO_HISTONE_DEACETYLASE_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_METHYL_CPG_BINDING;GO_CHROMATIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	KEGG_CYSTEINE_AND_METHIONINE_METABOLISM	PID_RB_1PATHWAY	.	.	Distinct nuclear expression in dividing cells.	http://www.proteinatlas.org/ENSG00000130816-DNMT1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 39.6	nucleus but not nucleoli	.	BP4, PM2
H	19	11040263	rs117203028	C	T	222	PASS	TIMM29	Translocase of inner mitochondrial membrane 29	exonic	NM_138358	.	missense SNV	TIMM29:NM_138358:exon2:c.C668T:p.T223I	ENST00000270502.6,ENSG00000142444.6	CpG: 140	19p13.2	.	.	.	.	.	rs117203028	.	.	0.013289	0.0089	0.00179712	.	0.00061202	274502	0.00813916	18798	0.00913331	0.01320423	.	.	.	0.021,D	0.468,P	0.92,P	0.951083,N	0.018047,N	2.19,M	.	12.3943	2.687	1.051	2.948686,22.1	4.87	0.00637978615781	VDB=0.280449;SGB=-0.693147;RPB=0.795817;MQB=1.90075e-24;MQSB=0.918306;BQB=0.930497;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=248;DP4=55,52,48,32;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:187:255,0,255:107,80	C	T	0	1	Translocase of inner mitochondrial membrane 29, 617380	.	.	.	27718247|27554484	.	.	.	.	.	.	.	.	.	.	.	.	.	.
L	19	11311136	rs370576494	A	G	222	PASS	DOCK6	Dedicator of cytokinesis 6	exonic	NM_020812	.	synonymous SNV	DOCK6:NM_020812:exon47:c.T5949C:p.D1983D	ENST00000294618.11,ENST00000587734.1,ENSG00000130158.13,ENST00000587656.5,ENST00000586702.1	.	19p13.2	.	.	.	.	.	rs370576494	.	.	0.00830565	0.0089	0.00179712	.	0.00042534	270372	0.00532774	18582	0.00369219	0.00264550	.	0.8273	.	.	.	.	.	.	.	.	.	-1.773	0.218	.	.	.	VDB=0.00449703;SGB=-0.693147;RPB=0.987613;MQB=1.47013e-15;MQSB=0.826274;BQB=0.992135;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=145;DP4=37,21,35,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:105:255,0,255:58,47	A	G	0	1	Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive	.	.	.	12432077|17196961|10718198|8849019|17159513|23522784|21820096|25824905	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_WOUND_HEALING;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_HEMOSTASIS	GO_PERINUCLEAR_REGION_OF_CYTOPLASM	GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR	.	PID_CDC42_REG_PATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	Ubiquitous granular cytoplasmic expression, high in glandular cells.	http://www.proteinatlas.org/ENSG00000130158-DOCK6/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lung: 23.9	cytoplasm	.	BP7
L	19	11606897	rs767214993	G	A	222	PASS	ZNF653	Zinc finger protein 653	exonic	NM_138783	.	synonymous SNV	ZNF653:NM_138783:exon3:c.C427T:p.L143L	ENST00000585656.1,ENST00000593191.1,ENSG00000267477.1,ENST00000293771.9,ENST00000590548.5,ENST00000588541.5,ENSG00000161914.9	.	19p13.2	.	.	Score=881;Name=V$AREB6_03	.	.	rs767214993	.	.	.	.	.	.	0.00002845	246084	0.00040594	17244	.	0.00088183	.	-0.1134	.	.	.	.	.	.	.	.	.	2.360	5.115	.	4.52	.	VDB=0.0837131;SGB=-0.693147;RPB=0.415335;MQB=1.07781e-10;MQSB=0.78871;BQB=0.787833;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=280;DP4=70,29,79,21;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:91:46,45	0/0:.:100:.	0/0:.:100:.	0/0:.:100:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:100:.	0/1:255,0,255:108:53,55	G	A	0	2	Zinc finger protein 653, 611371	.	.	.	12920234	.	.	.	.	.	.	.	Cytoplasmic expression in a subset of tissues.	http://www.proteinatlas.org/ENSG00000161914-ZNF653/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 13.3	.	.	PM2
H	19	12767874	.	CG	C	222	PASS	MAN2B1	Mannosidase, alpha, class 2B, member 1	splicing	NM_000528,NM_001173498	NM_000528:exon12:c.1420-5C>-;NM_001173498:exon12:c.1417-5C>-	.	.	ENST00000221363.8,ENSG00000104774.12,ENST00000433513.5,ENST00000466794.5,ENST00000456935.6,ENST00000495617.1,ENST00000595880.5,ENST00000593686.1	CpG: 21	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0818236;SGB=-0.693147;MQSB=0.988261;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=184;DP4=47,34,36,43;IDV=87;IMF=0.472826;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:105:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:160:255,0,255:81,79	CG	C	0	1	Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive	.	.	.	4358183|724292|8829553|9915946|9396732|18713755|318157|318154|9758606|5472593|880209|7436888|3034518|8910458|1472354|8166692|9158146|9192839|22161967|15269179|9208932|9370301|8159689	GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_OLIGOSACCHARIDE_METABOLIC_PROCESS;GO_OLIGOSACCHARIDE_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PROTEIN_DEGLYCOSYLATION;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_HEXOSE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_VACUOLAR_LUMEN;GO_EXTRACELLULAR_SPACE;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE	GO_CARBOHYDRATE_BINDING;GO_MANNOSIDASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_OTHER_GLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	.	General cytoplasmic expression with a granular pattern.	http://www.proteinatlas.org/ENSG00000104774-MAN2B1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 60.9	nucleus but not nucleoli; vesicles	.	PM2
M	19	12878249	rs35979347	C	G	222	PASS	HOOK2	Hook, Drosophila, homolog of, 2	exonic	NM_001100176,NM_013312	.	missense SNV	HOOK2:NM_001100176:exon14:c.G1333C:p.V445L,HOOK2:NM_013312:exon14:c.G1333C:p.V445L	ENST00000589398.1,ENST00000264827.9,ENST00000586188.5,ENST00000397668.7,ENST00000589965.5,ENSG00000095066.11	.	19p13.2	.	.	.	.	.	rs35979347	.	.	0.0249169	0.0258	0.00778754	.	0.00669169	277060	0.02582185	18860	0.02293043	0.02552817	.	-2.8548	.	0.65,T	0.005,B	0.001,B	0.999997,N	0.062087,N	-0.11,N	2.33,T	1.2142	0.276	0.409	.	.	.	VDB=0.00560049;SGB=-0.693021;RPB=0.215631;MQB=5.40751e-09;MQSB=0.99912;BQB=0.843273;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=198;DP4=73,20,37,17;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:53:.:.	0/1:74:255,0,255:47,27	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:73:255,0,255:46,27	C	G	0	2	Hook, Drosophila, homolog of, 2, 607824	.	.	.	9927460|11238449	GO_LYSOSOMAL_TRANSPORT;GO_ENDOSOME_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ENDOSOME_TO_LYSOSOME_TRANSPORT;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_VESICLE_MEDIATED_TRANSPORT_BETWEEN_ENDOSOMAL_COMPARTMENTS;GO_VACUOLE_ORGANIZATION;GO_LYTIC_VACUOLE_ORGANIZATION;GO_PROTEIN_LOCALIZATION;GO_ENDOCYTOSIS;GO_CYTOSOLIC_TRANSPORT	GO_MICROTUBULE_CYTOSKELETON;GO_HOPS_COMPLEX;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_MEMBRANE_PROTEIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ORGANIZING_CENTER	GO_IDENTICAL_PROTEIN_BINDING	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000095066-HOOK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 54.8	cytoplasm; vesicles	.	BP4
H	19	13041127	rs371047882	C	T	222	PASS	FARSA	.	exonic	NM_004461	.	missense SNV	FARSA:NM_004461:exon4:c.G413A:p.R138Q	ENST00000588025.5,ENST00000587981.1,ENST00000314606.8,ENST00000586280.1,ENST00000593021.1,ENST00000423140.6,ENSG00000179115.10,ENST00000592662.5,ENST00000586146.5,ENST00000588965.5	.	19p13.2	.	.	.	.	.	rs371047882	.	.	0.00166113	0.001	0.000199681	.	0.00012283	276814	0.00137785	18870	0.00136028	0.00265018	.	-0.5165	.	0.327,T	0.001,B	0.0,B	0.971178,N	0.020548,N	0,N	0.02,T	1.0036	0.311	1.996	2.913246,21.9	.	0.00478492989764	VDB=0.0349058;SGB=-0.693147;RPB=0.377211;MQB=2.44151e-39;MQSB=0.133633;BQB=0.258192;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=409;DP4=111,39,109,52;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/1:311:255,0,255:150,161	C	T	0	1	.	.	.	.	.	GO_AMINO_ACID_ACTIVATION;GO_TRNA_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_NCRNA_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	GO_CATALYTIC_COMPLEX	GO_TRNA_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RNA_BINDING;GO_LIGASE_ACTIVITY	KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_CYTOSOLIC_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000179115-FARSA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 32.0	cytoplasm	.	PM2
L	19	13318672	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	C	225	PASS	CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6949_6975del:p.2317_2325del	ENST00000638009.1,ENST00000360228.10,ENST00000614285.4,ENST00000636012.1,ENST00000635727.1,ENST00000636389.1,ENST00000587525.5,ENST00000637276.1,ENST00000573710.7,ENST00000637736.1,ENST00000638029.1,ENST00000637432.1,ENST00000585802.6,ENST00000635895.1,ENSG00000141837.19,ENST00000637769.1	CpG: 93	19p13.2	.	.	.	.	Score=360;Name="2132876:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	0.00241022	78416	0.00486182	3908	0.01726167	0.01545455	.	.	.	.	.	.	.	.	.	.	.	.	.	3.374920,17.38	.	.	INDEL;VDB=0.474469;SGB=-0.662043;MQSB=0.857143;MQ0F=0;MQ=49;ICB=1;HOB=0.5;DP=122;DP4=17,5,59,11;IDV=15;IMF=0.636364;MinDP=12;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:9:0,.	0/0:255,.,.:16:0,.	0/0:.:12:.	0/0:.:15:.	0/0:255,.,.:12:1,.	0/0:148,.,.:13:7,.	0/0:187,.,.:11:4,.	0/0:142,.,.:16:9,.	3/5:255,.,.,.,.,.,170,.,.,191,.,.,.,.,.,204,.,.,.,.,230:15:1,.,.,8,.,6	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,C	0	1	Epileptic encephalopathy, early infantile, 42, 617106 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant	.	.	.	9164815|12707077|15795222|10408534|15699344|10408532|18313928|11342703|18285829|18056581|11176968|8825650|23827678|11439943|9915947|7537420|19847904|19104150|23934111|27476654|16043807|8929530|10987655|11179022|8980220|9164819|11809294|9311738|11723274|10408533|9302278|11564488|10611370|9741473|16595610|12756131|15452324|11409427|9488686|10734061|19586927|10508236|19817876|17968008|9259274|15577901|8898206|19633872|18541804|9259275|9498057|11370629|15175395|18400034|9153453|15336982|12056940|8734765|8638124|10753886|12235360|10607897|11061267|15003170|20186955|18825664|15985579|18687887|9345107|9600739|8988170	GO_SPINAL_CORD_DEVELOPMENT;GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ION_TRANSPORT;GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_HINDBRAIN_DEVELOPMENT;GO_MEMBRANE_DEPOLARIZATION;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_METENCEPHALON_DEVELOPMENT;GO_ACID_SECRETION;GO_CELL_PART_MORPHOGENESIS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CHEMICAL_HOMEOSTASIS;GO_SYNAPSE_ORGANIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_ADULT_BEHAVIOR;GO_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL;GO_METAL_ION_TRANSPORT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION;GO_TRANSMISSION_OF_NERVE_IMPULSE;GO_CELL_DEATH;GO_REGULATION_OF_NEUROTRANSMITTER_SECRETION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_CEREBELLAR_CORTEX_MORPHOGENESIS;GO_NEUROTRANSMITTER_TRANSPORT;GO_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY;GO_MULTICELLULAR_ORGANISMAL_MOVEMENT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_ADULT_LOCOMOTORY_BEHAVIOR;GO_VESICLE_MEDIATED_TRANSPORT;GO_REFLEX;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS;GO_CATION_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_VENTRAL_SPINAL_CORD_DEVELOPMENT;GO_ANION_TRANSPORT;GO_ANATOMICAL_STRUCTURE_MATURATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_AMINE_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CEREBELLAR_CORTEX_DEVELOPMENT;GO_BEHAVIORAL_RESPONSE_TO_PAIN;GO_REGULATION_OF_SECRETION;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_PONS_DEVELOPMENT;GO_RESPONSE_TO_PAIN;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_NEURON_NEURON_SYNAPTIC_TRANSMISSION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_ANION_HOMEOSTASIS;GO_ANION_HOMEOSTASIS;GO_CELL_DIFFERENTIATION_IN_HINDBRAIN;GO_AMINO_ACID_TRANSPORT;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ORGANIC_ANION_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS_OF_NEUROTRANSMITTER;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_BIOSYNTHETIC_PROCESS;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_GROWTH;GO_CALCIUM_ION_TRANSPORT;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ACTION_POTENTIAL;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_HEAD_DEVELOPMENT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MONOVALENT_INORGANIC_ANION_HOMEOSTASIS;GO_GLUCOSE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_HINDBRAIN_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_LOCALIZATION;GO_NEUROTRANSMITTER_METABOLIC_PROCESS;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_LOCOMOTORY_BEHAVIOR;GO_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_NEURON_DIFFERENTIATION;GO_CEREBELLAR_CORTEX_FORMATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_SULFUR_AMINO_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_METABOLIC_PROCESS;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_EXOCYTOSIS;GO_HEXOSE_METABOLIC_PROCESS;GO_NEUROMUSCULAR_PROCESS;GO_NEUROMUSCULAR_SYNAPTIC_TRANSMISSION;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_MORPHOGENESIS;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_ANION_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_AXONOGENESIS;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_DEVELOPMENT;GO_REGULATED_EXOCYTOSIS;GO_BEHAVIOR;GO_DEVELOPMENTAL_MATURATION;GO_HORMONE_METABOLIC_PROCESS;GO_WALKING_BEHAVIOR;GO_CELL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSOLIC_TRANSPORT;GO_RECEPTOR_CLUSTERING;GO_SYNAPSE_ASSEMBLY;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_NEURON_PART;GO_SYNAPSE;GO_CATION_CHANNEL_COMPLEX;GO_NEURON_PROJECTION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CELL_BODY;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_CALCIUM_CHANNEL_COMPLEX;GO_SYNAPSE_PART;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_DENDRITE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_SYNTAXIN_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SNARE_BINDING;GO_HIGH_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	Distinct expression in oligodendrocytes.	http://www.proteinatlas.org/ENSG00000141837-CACNA1A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 1.5	golgi apparatus; vesicles; nucleus but not nucleoli	.	.
L	19	13446718	rs772301380	G	A	222	PASS	CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_000068,NM_001127221,NM_001127222,NM_001174080,NM_023035	.	synonymous SNV	CACNA1A:NM_001127221:exon7:c.C984T:p.N328N,CACNA1A:NM_001127222:exon7:c.C984T:p.N328N	ENST00000614285.4,ENST00000593160.2,ENST00000636012.1,ENST00000573710.7,ENST00000636389.1,ENSG00000141837.19,ENST00000360228.10,ENST00000637276.1,ENST00000636549.1,ENST00000638029.1,ENST00000637736.1,ENST00000637966.1,ENST00000635895.1,ENST00000637769.1,ENST00000637927.1,ENST00000636974.1,ENST00000637432.1,ENST00000638009.1,ENST00000635727.1	.	19p13.2	.	.	Score=906;Name=V$CDPCR3HD_01	.	.	rs772301380	.	.	.	.	.	.	0.00005924	253186	0.00075231	17280	0.00019433	.	.	-0.3568	.	.	.	.	.	.	.	.	.	0.658	0.916	1.171388,11.60	.	.	VDB=0.314718;SGB=-0.690438;RPB=0.875983;MQB=5.89642e-07;MQSB=0.394195;BQB=0.745367;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=9,23,7,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:49:255,0,255:32,17	G	A	0	1	Epileptic encephalopathy, early infantile, 42, 617106 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant	.	.	.	9164815|12707077|15795222|10408534|15699344|10408532|18313928|11342703|18285829|18056581|11176968|8825650|23827678|11439943|9915947|7537420|19847904|19104150|23934111|27476654|16043807|8929530|10987655|11179022|8980220|9164819|11809294|9311738|11723274|10408533|9302278|11564488|10611370|9741473|16595610|12756131|15452324|11409427|9488686|10734061|19586927|10508236|19817876|17968008|9259274|15577901|8898206|19633872|18541804|9259275|9498057|11370629|15175395|18400034|9153453|15336982|12056940|8734765|8638124|10753886|12235360|10607897|11061267|15003170|20186955|18825664|15985579|18687887|9345107|9600739|8988170	GO_SPINAL_CORD_DEVELOPMENT;GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ION_TRANSPORT;GO_SYNAPTIC_VESICLE_LOCALIZATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_HINDBRAIN_DEVELOPMENT;GO_MEMBRANE_DEPOLARIZATION;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_METENCEPHALON_DEVELOPMENT;GO_ACID_SECRETION;GO_CELL_PART_MORPHOGENESIS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CHEMICAL_HOMEOSTASIS;GO_SYNAPSE_ORGANIZATION;GO_VESICLE_LOCALIZATION;GO_SECRETION_BY_CELL;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_ADULT_BEHAVIOR;GO_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL;GO_METAL_ION_TRANSPORT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION;GO_TRANSMISSION_OF_NERVE_IMPULSE;GO_CELL_DEATH;GO_REGULATION_OF_NEUROTRANSMITTER_SECRETION;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_CEREBELLAR_CORTEX_MORPHOGENESIS;GO_NEUROTRANSMITTER_TRANSPORT;GO_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY;GO_MULTICELLULAR_ORGANISMAL_MOVEMENT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_NEURON_PROJECTION_DEVELOPMENT;GO_ADULT_LOCOMOTORY_BEHAVIOR;GO_VESICLE_MEDIATED_TRANSPORT;GO_REFLEX;GO_REGULATION_OF_NEUROTRANSMITTER_LEVELS;GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE;GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS;GO_CATION_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_SYNAPTIC_VESICLE_CYCLE;GO_SECRETION;GO_VENTRAL_SPINAL_CORD_DEVELOPMENT;GO_ANION_TRANSPORT;GO_ANATOMICAL_STRUCTURE_MATURATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_AMINE_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_CEREBELLAR_CORTEX_DEVELOPMENT;GO_BEHAVIORAL_RESPONSE_TO_PAIN;GO_REGULATION_OF_SECRETION;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_PONS_DEVELOPMENT;GO_RESPONSE_TO_PAIN;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_NEURON_NEURON_SYNAPTIC_TRANSMISSION;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_CELLULAR_ANION_HOMEOSTASIS;GO_ANION_HOMEOSTASIS;GO_CELL_DIFFERENTIATION_IN_HINDBRAIN;GO_AMINO_ACID_TRANSPORT;GO_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_ORGANIC_ANION_TRANSPORT;GO_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS_OF_NEUROTRANSMITTER;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_PRESYNAPTIC_PROCESS_INVOLVED_IN_SYNAPTIC_TRANSMISSION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_REGULATION_OF_HORMONE_BIOSYNTHETIC_PROCESS;GO_SIGNAL_RELEASE;GO_CALCIUM_ION_REGULATED_EXOCYTOSIS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_GROWTH;GO_CALCIUM_ION_TRANSPORT;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ACTION_POTENTIAL;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_HEAD_DEVELOPMENT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_MONOVALENT_INORGANIC_ANION_HOMEOSTASIS;GO_GLUCOSE_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_HINDBRAIN_MORPHOGENESIS;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_LOCALIZATION;GO_NEUROTRANSMITTER_METABOLIC_PROCESS;GO_ION_HOMEOSTASIS;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_LOCOMOTORY_BEHAVIOR;GO_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC;GO_NEURON_DIFFERENTIATION;GO_CEREBELLAR_CORTEX_FORMATION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_SULFUR_AMINO_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_METABOLIC_PROCESS;GO_LOCALIZATION_WITHIN_MEMBRANE;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_EXOCYTOSIS;GO_HEXOSE_METABOLIC_PROCESS;GO_NEUROMUSCULAR_PROCESS;GO_NEUROMUSCULAR_SYNAPTIC_TRANSMISSION;GO_REGULATION_OF_ION_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_MODULATION_OF_SYNAPTIC_TRANSMISSION;GO_ORGANELLE_LOCALIZATION;GO_CELL_DEVELOPMENT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_MORPHOGENESIS;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_ANION_TRANSPORT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_AXONOGENESIS;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CEREBELLAR_PURKINJE_CELL_LAYER_DEVELOPMENT;GO_REGULATED_EXOCYTOSIS;GO_BEHAVIOR;GO_DEVELOPMENTAL_MATURATION;GO_HORMONE_METABOLIC_PROCESS;GO_WALKING_BEHAVIOR;GO_CELL_GROWTH;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSOLIC_TRANSPORT;GO_RECEPTOR_CLUSTERING;GO_SYNAPSE_ASSEMBLY;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_NEURON_PART;GO_SYNAPSE;GO_CATION_CHANNEL_COMPLEX;GO_NEURON_PROJECTION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CELL_BODY;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_SOMATODENDRITIC_COMPARTMENT;GO_CALCIUM_CHANNEL_COMPLEX;GO_SYNAPSE_PART;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_DENDRITE	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_SYNTAXIN_BINDING;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SNARE_BINDING;GO_HIGH_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	Distinct expression in oligodendrocytes.	http://www.proteinatlas.org/ENSG00000141837-CACNA1A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	adrenal gland: 1.5	golgi apparatus; vesicles; nucleus but not nucleoli	.	BP7
H	19	14862332	rs374518362	A	T	222	PASS	ADGRE2	Adhesion G protein-coupled receptor E2	exonic	NM_001271052,NM_013447	.	missense SNV	ADGRE2:NM_001271052:exon14:c.T1766A:p.M589K,ADGRE2:NM_013447:exon16:c.T1940A:p.M647K	ENST00000392965.7,ENST00000360222.8,ENST00000315576.7,ENST00000392962.3,ENST00000601345.5,ENSG00000127507.17,ENST00000595839.5,ENST00000596991.6,ENST00000594076.5,ENST00000595208.5,ENST00000594294.5	.	19p13.12	.	.	.	.	.	rs374518362	.	.	0.00664452	0.0119	0.00439297	.	0.00063846	277230	0.00190799	18868	0.00116595	.	.	-0.2018	GPCR, family 2-like;GPS motif	0.001,D	0.987,D	0.998,D	1,N	.	3.26,M	0.95,T	6.0818	0.686	2.277	3.473828,23.0	3.46	.	VDB=0.461098;SGB=-0.693147;RPB=0.94161;MQB=3.40363e-20;MQSB=0.903433;BQB=0.710883;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=170;DP4=54,17,49,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:51:.:.	0/0:51:.:.	0/0:103:.:.	0/0:100:.:.	0/1:132:255,0,255:71,61	A	T	0	1	Vibratory urticaria, 125630 (3), Autosomal dominant	.	.	.	26841242|17174274|22035891|7294069|10903844|17928360	.	.	.	.	.	.	.	.	.	.	.	.	.	BS2, PM1, PP2
H	19	15052982	.	G	GAAT	24.4745	PASS	OR7C2	.	exonic	NM_012377	.	nonframeshift insertion	OR7C2:NM_012377:exon1:c.682_683insAAT:p.V228delinsEL	ENST00000248072.3,ENSG00000127529.7	.	19p13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00177305	0.00239234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0945788;SGB=-0.556411;MQSB=0.914584;MQ0F=0;ICB=1;HOB=0.5;MQ=41;DP=126;DP4=6,3,4,0;IDV=3;IMF=0.0238095;MinDP=46;AN=18;AC=1	GT:DP:PL:AD	0/0:46:.:.	0/0:67:.:.	0/0:81:.:.	0/0:58:.:.	0/0:68:.:.	0/0:69:.:.	0/0:50:.:.	0/0:74:.:.	0/1:13:58,0,186:9,4	G	GAAT	0	1	.	.	.	.	.	GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_SYSTEM_PROCESS;GO_DETECTION_OF_STIMULUS	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_OLFACTORY_RECEPTOR_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000127529-OR7C2/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM2, PM4
H	19	15756539	rs138709476	C	T	222	PASS	CYP4F3	Cytochrome P450, subfamily IVF, polypeptide 3	exonic	NM_000896	.	missense SNV	CYP4F3:NM_000896:exon3:c.C209T:p.S70L	ENST00000585846.1,ENST00000592279.6,ENST00000591058.5,ENST00000221307.12,ENSG00000186529.15,ENST00000587360.1,ENST00000586182.6	.	19p13.12	.	.	.	.	.	rs138709476	.	.	0.0149502	0.0149	0.00339457	0.0002	0.00104887	274582	0.01196554	18804	0.01690634	0.01232394	.	-0.0780	.	0.027,D	0.041,B	0.03,B	1,N	0.001348,U	1.57,L	-2.35,D	3.2215	-0.075	1.514	1.401248,12.79	.	.	VDB=0.229997;SGB=-0.693147;RPB=0.540753;MQB=6.53705e-15;MQSB=0.840792;BQB=0.998507;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=121;DP4=43,3,41,5;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:71:.:.	0/0:100:.:.	0/0:50:.:.	0/0:61:.:.	0/0:50:.:.	0/0:50:.:.	0/1:92:255,0,255:46,46	C	T	0	1	Cytochrome P450, subfamily IVF, polypeptide 3, 601270	.	.	.	9539102|8486631	GO_FATTY_ACID_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_LEUKOTRIENE_METABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_MONOOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_OXYGEN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;GO_TETRAPYRROLE_BINDING;GO_IRON_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_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	KEGG_ARACHIDONIC_ACID_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	Cytoplasmic expression in several tissues, most abundant in liver.	http://www.proteinatlas.org/ENSG00000186529-CYP4F3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	kidney: 22.7	.	.	.
H-	19	15807714	rs537944013	G	A	151	PASS	CYP4F12	Cytochrome P450, family 4, subfamily F, polypeptide 12	splicing	NM_023944	NM_023944:exon13:c.1398-4G>A	.	.	ENST00000518629.7,ENST00000550308.5,ENST00000517734.5,ENST00000546608.1,ENSG00000186204.14,ENST00000550627.5,ENST00000324632.10	.	19p13.12	.	.	.	.	.	rs537944013	.	.	0.00166113	0.001	0.000199681	.	0.00008622	243560	0.00104773	17180	0.00097163	.	0,0.004	.	.	.	.	.	.	.	.	.	.	-0.587	-0.282	.	.	.	VDB=0.152045;SGB=-0.692352;RPB=0.16155;MQB=2.1994e-05;MQSB=1;BQB=0.887955;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=98;DP4=44,1,46,0;MinDP=10;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/1:40:171,0,199:19,21	0/0:31:.:.	0/0:10:.:.	0/0:30:.:.	0/1:51:184,0,164:26,25	G	A	0	2	Cytochrome P450, family 4, subfamily F, polypeptide 12, 611485	.	.	.	11162607|15548388|11162645|16112640	GO_FATTY_ACID_CATABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CHEMICAL_HOMEOSTASIS;GO_CIRCULATORY_SYSTEM_PROCESS;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_BLOOD_VOLUME;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_RENAL_WATER_HOMEOSTASIS;GO_FAT_SOLUBLE_VITAMIN_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_WATER_HOMEOSTASIS;GO_OXIDATION_REDUCTION_PROCESS;GO_WATER_HOMEOSTASIS;GO_SODIUM_ION_HOMEOSTASIS;GO_SYSTEM_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_DRUG_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_MULTICELLULAR_ORGANISMAL_HOMEOSTASIS;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_LIPID_CATABOLIC_PROCESS;GO_ION_HOMEOSTASIS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS;GO_ARACHIDONIC_ACID_METABOLIC_PROCESS;GO_VITAMIN_METABOLIC_PROCESS;GO_EPOXYGENASE_P450_PATHWAY;GO_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_LEUKOTRIENE_METABOLIC_PROCESS;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_RENAL_SYSTEM_PROCESS	GO_APICAL_PART_OF_CELL;GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION	GO_MONOOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_OXYGEN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_TETRAPYRROLE_BINDING;GO_IRON_ION_BINDING;GO_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;GO_OXIDOREDUCTASE_ACTIVITY;GO_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;GO_ARACHIDONIC_ACID_MONOOXYGENASE_ACTIVITY	.	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	Cytoplasmic expression in several tissues, most abundant in small intestine.	http://www.proteinatlas.org/ENSG00000186204-CYP4F12/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 18.3	.	.	PM2
H	19	16268206	.	CT	C	34.904	PASS	HSH2D	.	exonic	NM_001291274,NM_032855	.	frameshift deletion	HSH2D:NM_001291274:exon8:c.491delT:p.L164fs,HSH2D:NM_032855:exon8:c.662delT:p.L221fs	ENST00000616070.4_0,ENSG00000196684.12,ENST00000613986.4,ENST00000616070.4,ENST00000613195.4_0,ENST00000616645.4,ENST00000613986.4_0,ENST00000616645.4_0,ENST00000613195.4	.	19p13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02442868	0.02998236	.	.	.	.	.	.	.	.	.	.	.	.	.	0.936930,8.818	.	.	INDEL;VDB=0.775591;SGB=-0.651104;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=270;DP4=6,3,6,2;IDV=3;IMF=0.0111111;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:103:.:.	0/0:103:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:17:68,0,164:9,8	CT	C	0	1	.	.	.	.	.	GO_LEUKOCYTE_ACTIVATION;GO_REGULATION_OF_MITOCHONDRIAL_DEPOLARIZATION;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_CELL_ACTIVATION;GO_REGULATION_OF_MEMBRANE_DEPOLARIZATION;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS;GO_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_LYMPHOCYTE_ACTIVATION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_B_CELL_APOPTOTIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS;GO_REGULATION_OF_MITOCHONDRIAL_MEMBRANE_POTENTIAL;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_B_CELL_APOPTOTIC_PROCESS;GO_BIOLOGICAL_ADHESION	GO_MITOCHONDRION	GO_BINDING_BRIDGING;GO_SIGNALING_ADAPTOR_ACTIVITY;GO_SH3_SH2_ADAPTOR_ACTIVITY	.	.	.	.	Most of the normal cells showed weak to moderate cytoplasmic positivity with additional luminal membranous staining. Purkinje cells of cerebellum and subsets of skeletal muscle cells were strongly stained. Endometrial glands, breast and lymphoid tissues were negative.	http://www.proteinatlas.org/ENSG00000196684-HSH2D/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	tonsil: 32.7	plasma membrane; cytoplasm; focal adhesions	.	.
L	19	16339697	.	C	G	222	PASS	AP1M1	Adaptor-related protein complex 1, mu 1 subunit	exonic	NM_001130524,NM_032493	.	synonymous SNV	AP1M1:NM_032493:exon9:c.C1005G:p.V335V,AP1M1:NM_001130524:exon10:c.C1041G:p.V347V	ENST00000590756.5,ENST00000291439.7,ENSG00000072958.8,ENST00000586543.1,ENST00000429941.6,ENST00000444449.6	.	19p13.11	.	.	Score=774;Name=V$PAX5_02	.	.	.	.	.	.	.	.	.	0.00000406	246202	.	.	.	.	.	-0.1393	.	.	.	.	.	.	.	.	.	-0.078	-0.450	1.586519,13.78	.	.	VDB=0.000194929;SGB=-0.693147;RPB=0.645009;MQB=1.20788e-26;MQSB=0.783775;BQB=0.796133;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=245;DP4=51,49,53,31;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	0/0:104:.:.	0/0:104:.:.	0/0:100:.:.	0/0:101:.:.	0/1:184:255,0,255:100,84	C	G	0	1	Adaptor-related protein complex 1, mu 1 subunit, 603535	.	.	.	12215646|1761056|9653655	GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II;GO_IMMUNE_SYSTEM_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_VESICLE_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_CELLULAR_PIGMENTATION;GO_VACUOLAR_TRANSPORT;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_PIGMENTATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_VIRUS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_PIGMENT_CELL_DIFFERENTIATION;GO_PIGMENT_GRANULE_ORGANIZATION;GO_DEVELOPMENTAL_PIGMENTATION;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_DEVELOPMENTAL_MATURATION;GO_PIGMENT_ACCUMULATION	GO_VESICLE_MEMBRANE;GO_VACUOLE;GO_ENDOCYTIC_VESICLE;GO_CLATHRIN_COAT;GO_CLATHRIN_COATED_VESICLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_ENDOCYTIC_VESICLE_MEMBRANE;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_COATED_VESICLE_MEMBRANE;GO_VACUOLAR_PART;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CYTOPLASMIC_VESICLE_PART;GO_LYTIC_VACUOLE;GO_COATED_VESICLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_GOLGI_APPARATUS;GO_AP_TYPE_MEMBRANE_COAT_ADAPTOR_COMPLEX;GO_CLATHRIN_COATED_ENDOCYTIC_VESICLE_MEMBRANE;GO_COATED_MEMBRANE;GO_TRANS_GOLGI_NETWORK_MEMBRANE;GO_CLATHRIN_ADAPTOR_COMPLEX;GO_ORGANELLE_SUBCOMPARTMENT;GO_VACUOLAR_MEMBRANE	.	KEGG_LYSOSOME	PID_ECADHERIN_NASCENT_AJ_PATHWAY	.	REACTOME_NEF_MEDIATED_DOWNREGULATION_OF_MHC_CLASS_I_COMPLEX_CELL_SURFACE_EXPRESSION;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_NEF_MEDIATES_DOWN_MODULATION_OF_CELL_SURFACE_RECEPTORS_BY_RECRUITING_THEM_TO_CLATHRIN_ADAPTERS;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_LYSOSOME_VESICLE_BIOGENESIS;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_THE_ROLE_OF_NEF_IN_HIV1_REPLICATION_AND_DISEASE_PATHOGENESIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Mainly cytoplasmic expression in all tissues.	http://www.proteinatlas.org/ENSG00000072958-AP1M1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 59.9	.	.	BP7, PM2
L	19	17001384	rs145145785	G	A	222	PASS	F2RL3	Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4)	exonic	NM_003950	.	synonymous SNV	F2RL3:NM_003950:exon2:c.G1110A:p.A370A	ENST00000248076.3,ENSG00000127533.3	CpG: 66	19p13.11	.	.	.	.	.	rs145145785	.	.	0.0199336	0.0169	0.00339457	.	0.00188163	243938	0.02442205	16870	0.01905132	0.02561837	.	.	.	.	.	.	.	.	.	.	.	-0.501	-0.145	.	.	.	VDB=4.58862e-05;SGB=-0.692914;RPB=0.59522;MQB=1.90889e-06;MQSB=0.99563;BQB=0.994322;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=303;DP4=40,79,39,77;MinDP=50;AN=18;AC=3	GT:DP:PL:AD	0/0:52:.:.	0/0:101:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/1:50:255,0,255:25,25	0/1:89:255,0,255:41,48	0/1:96:255,0,255:53,43	G	A	0	3	Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4), 602779	.	.	.	9716134|10766244|11544528|9618465	GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_VESICLE_ORGANIZATION;GO_PLATELET_ACTIVATION;GO_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_CELL_ACTIVATION;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_WOUND_HEALING;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_POSITIVE_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_SECRETORY_GRANULE_ORGANIZATION;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PHOSPHOLIPASE_C_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_HEMOSTASIS;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_THROMBIN_PAR4_PATHWAY	BIOCARTA_SPPA_PATHWAY;BIOCARTA_PAR1_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING;REACTOME_THROMBIN_SIGNALLING_THROUGH_PROTEINASE_ACTIVATED_RECEPTORS_PARS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	.	http://www.proteinatlas.org/ENSG00000127533-F2RL3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 4.3	.	.	BP7
L	19	17039964	rs376136046	G	T	222	PASS	CPAMD8	Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8	exonic	NM_015692	.	synonymous SNV	CPAMD8:NM_015692:exon24:c.C3073A:p.R1025R	ENST00000388925.8,ENST00000443236.5,ENSG00000160111.12	.	19p13.11	.	.	.	.	.	rs376136046	.	.	0.00830565	0.0079	0.00159744	.	0.00011914	276992	0.00174973	18860	0.00174893	0.00176056	.	-2.8550	.	.	.	.	1,D	.	.	.	5.9369	0.012	3.321	.	.	.	VDB=0.531922;SGB=-0.692914;RPB=0.707241;MQB=6.87215e-09;MQSB=0.998117;BQB=0.892055;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=64;DP4=10,21,8,17;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:30:.:.	0/0:50:.:.	0/0:32:.:.	0/0:49:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/1:56:255,0,255:31,25	G	T	0	1	Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive	.	.	.	27839872|15177561|10574462	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000160111-CPAMD8/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 6.2	.	.	BP7
L	19	17270255	rs376878511	C	T	222	PASS	MYO9B	Myosin IXB	exonic	NM_001130065,NM_004145	.	synonymous SNV	MYO9B:NM_001130065:exon8:c.C1380T:p.T460T,MYO9B:NM_004145:exon8:c.C1380T:p.T460T	ENST00000597216.5,ENST00000594824.5,ENST00000595641.5,ENSG00000099331.13,ENST00000397274.6,ENST00000595618.5,ENST00000599360.1,ENSG00000268056.5	.	19p13.11	.	.	.	.	.	rs376878511	.	.	0.00166113	0.001	0.000199681	.	0.00005891	271594	0.00069832	18616	0.00077730	0.00088028	.	-0.5781	.	.	.	.	.	.	.	.	.	-3.481	-7.028	2.163273,17.27	.	.	VDB=0.165571;SGB=-0.69312;RPB=0.808537;MQB=1.97426e-08;MQSB=0.875143;BQB=0.743164;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=85;DP4=19,9,22,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:60:255,0,255:28,32	C	T	0	1	{Celiac disease, susceptibility to, 4}, 609753 (3)	.	.	.	9226381|11901422|16282976|9490638|11801597|15644318|8907710	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ROUNDABOUT_SIGNALING_PATHWAY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_RHO_PROTEIN_SIGNAL_TRANSDUCTION	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_LAMELLIPODIUM;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_CELL_PROJECTION;GO_RUFFLE;GO_ACTIN_FILAMENT;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_RHO_GTPASE_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_ADP_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_TRANSITION_METAL_ION_BINDING;GO_CALMODULIN_BINDING;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_MICROFILAMENT_MOTOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_ACTIN_DEPENDENT_ATPASE_ACTIVITY;GO_ATPASE_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000099331-MYO9B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 62.0	cytoplasm	.	BP7, PM2
H	19	17320527	rs202183805	C	T	222	PASS	MYO9B	Myosin IXB	splicing	NM_001130065,NM_004145	NM_001130065:exon36:c.5748+9C>T;NM_004145:exon36:c.5748+9C>T	.	.	ENST00000594824.5,ENST00000595641.5,ENSG00000099331.13,ENST00000598419.1,ENST00000397274.6,ENST00000595618.5,ENST00000596942.5,ENST00000597073.5	.	19p13.11	.	.	.	.	.	rs202183805	.	.	0.00166113	0.001	0.000798722	0.0006	0.00018857	275762	0.00074255	18854	0.00058298	.	.	0.1475	.	.	.	.	.	.	.	.	.	-2.699	-1.814	.	.	.	VDB=0.0334743;SGB=-0.692976;RPB=0.865498;MQB=6.66808e-07;MQSB=0.995352;BQB=0.637231;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=87;DP4=18,19,11,15;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:49:.:.	0/1:63:255,0,255:37,26	C	T	0	1	{Celiac disease, susceptibility to, 4}, 609753 (3)	.	.	.	9226381|11901422|16282976|9490638|11801597|15644318|8907710	GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ROUNDABOUT_SIGNALING_PATHWAY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ACTIN_FILAMENT_BASED_MOVEMENT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_RHO_PROTEIN_SIGNAL_TRANSDUCTION	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MYOSIN_COMPLEX;GO_LAMELLIPODIUM;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_CELL_PROJECTION;GO_RUFFLE;GO_ACTIN_FILAMENT;GO_CELL_LEADING_EDGE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_RHO_GTPASE_BINDING;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_ADP_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_TRANSITION_METAL_ION_BINDING;GO_CALMODULIN_BINDING;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_MICROFILAMENT_MOTOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_MOTOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_ACTIN_DEPENDENT_ATPASE_ACTIVITY;GO_ATPASE_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000099331-MYO9B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 62.0	cytoplasm	.	PM2
L	19	17397493	rs772310239	GTGTGTGTT	G	198	PASS	ANKLE1	.	exonic	NM_001278444	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1926_1933del:p.C642fs	ENST00000404085.5,ENST00000394458.7,ENST00000596626.1,ENSG00000160117.14,ENST00000594072.5,ENST00000598347.2	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	rs772310239	.	.	.	.	.	.	0.01849471	94892	0.02170120	9170	0.11743912	0.04900181	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.072651,3.645	.	.	INDEL;VDB=0.556779;SGB=-0.616816;MQSB=0.895781;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=276;DP4=35,23,32,15;IDV=7;IMF=0.0985916;MinDP=19;AN=18;AC=5	GT:DP:PL:AD	0/0:32:.:.	0/0:51:.:.	0/0:40:.:.	0/1:10:201,0,63:4,6	0/0:30:.:.	1/1:13:189,8,0:1,12	0/0:19:.:.	0/1:43:188,0,255:30,13	0/1:39:231,0,255:23,16	GTGTGTGTT	G	1	3	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000160117-ANKLE1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 1.8	nucleus but not nucleoli; cytoplasm	.	BS1
L	19	17397501	.	TTG	T	34.7989	PASS	ANKLE1	.	exonic	NM_001278444	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1934_1935del:p.L645fs	ENST00000594072.5,ENST00000598347.2,ENST00000596626.1,ENSG00000160117.14,ENST00000394458.7,ENST00000404085.5	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.01001397	0.00563063	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.329137,2.439	.	.	INDEL;VDB=0.00416544;SGB=-0.616816;MQSB=0.898397;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=46;DP4=10,4,2,4;IDV=5;IMF=0.0666667;MinDP=31;AN=10;AC=1	GT:DP:PL:AD	./.:.:.:.	./.:.:.:.	0/0:38:.:.	0/0:31:.:.	0/0:33:.:.	./.:.:.:.	0/0:44:.:.	./.:.:.:.	0/1:20:69,0,236:14,4	TTG	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000160117-ANKLE1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	tonsil: 1.8	nucleus but not nucleoli; cytoplasm	.	.
M-	19	18171942	rs370238890	C	T	222	PASS	IL12RB1	Interleukin-12 receptor, beta-1	exonic	NM_001290023,NM_001290024,NM_005535	.	missense SNV	IL12RB1:NM_001290023:exon15:c.G1781A:p.G594E,IL12RB1:NM_005535:exon15:c.G1781A:p.G594E,IL12RB1:NM_001290024:exon16:c.G1901A:p.G634E	ENST00000600835.6,ENSG00000096996.15,ENST00000593993.6	.	19p13.11	.	.	.	.	.	rs370238890	.	.	0.00664452	0.0119	0.00239617	.	0.00084617	263540	0.01200487	18076	0.00816168	0.01056338	.	-0.2472	.	0.522,T	0.006,B	0.003,B	1,N	0.680729,N	1.15,L	-1.39,T	4.8308	-0.423	-0.222	.	.	.	VDB=0.166918;SGB=-0.693021;RPB=0.460208;MQB=2.88513e-08;MQSB=0.177538;BQB=0.524281;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=78;DP4=18,10,12,15;MinDP=12;AN=18;AC=1	GT:DP:PL:AD	0/0:12:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:29:.:.	0/0:30:.:.	0/0:31:.:.	0/1:55:255,0,255:28,27	C	T	0	1	Immunodeficiency 30, 614891 (3), Autosomal recessive	.	.	.	12596048|9603732|11424023|7911493|18591412|9603733|15178580|12591909|11106721|12594833|15736007|8943050|20212068|12830418|21487897|16159888|16293671|23864330|9284929	GO_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_FATE_COMMITMENT;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_T_HELPER_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_ACTIVATED_T_CELL_PROLIFERATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION;GO_DEFENSE_RESPONSE;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_CYTOTOXICITY;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_CELLULAR_RESPONSE_TO_INTERFERON_GAMMA;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_T_HELPER_1_TYPE_IMMUNE_RESPONSE;GO_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_T_CELL_PROLIFERATION;GO_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_REGULATION_OF_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION;GO_REGULATION_OF_T_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_T_HELPER_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_IMMUNE_RESPONSE;GO_REGULATION_OF_T_CELL_MEDIATED_IMMUNITY;GO_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_ACTIVATED_T_CELL_PROLIFERATION;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_CELL_ADHESION;GO_RESPONSE_TO_INTERFERON_GAMMA;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_KILLING;GO_POSITIVE_REGULATION_OF_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_IMMUNITY;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_T_HELPER_1_TYPE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION;GO_PHOSPHORYLATION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_REGULATION_OF_CELL_KILLING;GO_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION;GO_REGULATION_OF_CELL_FATE_COMMITMENT;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY	GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_RECEPTOR_COMPLEX;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CYTOKINE_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_RECEPTOR_ACTIVITY;GO_CYTOKINE_RECEPTOR_ACTIVITY;GO_RECEPTOR_BINDING;GO_CYTOKINE_RECEPTOR_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL27_PATHWAY;PID_IL12_2PATHWAY;PID_IL23_PATHWAY	BIOCARTA_IL12_PATHWAY;BIOCARTA_NO2IL12_PATHWAY;BIOCARTA_NKT_PATHWAY;BIOCARTA_TH1TH2_PATHWAY	.	.	http://www.proteinatlas.org/ENSG00000096996-IL12RB1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	spleen: 12.0	.	.	BP4
H	19	20230054	rs782192463	C	T	222	PASS	ZNF90	Zinc finger protein-90	exonic	NM_007138	.	missense SNV	ZNF90:NM_007138:exon4:c.C1691T:p.P564L	ENST00000474284.1,ENSG00000213988.10,ENST00000418063.2,ENST00000469078.5	.	19p12	.	.	.	.	.	rs782192463	.	.	.	.	.	.	0.00001813	275752	0.00026528	18848	.	.	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2	0.052,T	0.998,D	1.0,D	0.999708,D	.	1.53,L	2.3,T	7.3123	0.181	0.646	4.942248,25.0	.	0.00370555521377	VDB=0.0664689;SGB=-0.693147;RPB=0.403942;MQB=3.36317e-30;MQSB=0.909468;BQB=0.995979;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=283;DP4=61,52,53,46;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:104:.:.	0/0:102:.:.	0/0:104:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/1:212:255,0,255:113,99	C	T	0	1	Zinc finger protein-90, 603973	.	.	.	8467795|2023909	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	Cytoplasmic expression in several different tissue types.	http://www.proteinatlas.org/ENSG00000213988-ZNF90/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 7.3	.	.	PM1, PM2
L	19	20808308	rs377238647	C	T	222	PASS	ZNF626	.	exonic	NM_001076675	.	synonymous SNV	ZNF626:NM_001076675:exon4:c.G375A:p.V125V	ENST00000595094.1,ENSG00000269110.1,ENST00000601440.5,ENSG00000188171.15,ENST00000612591.4,ENST00000595405.1	.	19p12	.	.	.	.	.	rs377238647	.	.	0.00332226	0.003	0.000599042	.	0.00022737	277082	0.00312831	18860	0.00252623	0.00088028	.	.	.	.	.	.	.	.	.	.	.	0.284	-0.745	.	.	.	VDB=0.0480692;SGB=-0.69311;RPB=0.916092;MQB=7.21673e-11;MQSB=0.854747;BQB=0.958997;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=86;DP4=22,15,15,16;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:92:.:.	0/1:68:255,0,255:37,31	C	T	0	1	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	A majority of normal tissues displayed moderate to strong cytoplasmic immunoreactivity, often with a granular pattern. The liver, kidney, breast, seminiferous ducts, cells in CNS and lymphoid tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000188171-ZNF626/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 20.9	.	.	BP7, PM2
L	19	22156088	rs200638062	C	T	222	PASS	ZNF208	Zinc finger protein-208	exonic	NM_007153	.	missense SNV	ZNF208:NM_007153:exon4:c.G1748A:p.C583Y	ENST00000601773.5,ENSG00000160321.14,ENST00000599916.5,ENST00000609966.5,ENST00000397126.8	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs200638062	.	.	0.00498339	0.003	0.000798722	.	0.00041653	273692	0.00448143	18744	0.00777303	0.00440141	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.0,D	1.0,D	1.0,D	0.689406,D	.	3.605,H	-1.94,D	8.4453	0.173	2.222	4.002114,23.6	.	0.00425383087986	VDB=0.886857;SGB=-0.693147;RPB=0.963247;MQB=3.52454e-20;MQSB=0.41259;BQB=0.42072;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=346;DP4=91,47,86,48;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:147:.:.	0/0:100:.:.	0/0:199:.:.	0/0:242:.:.	0/0:194:.:.	0/0:211:.:.	0/0:194:.:.	0/0:215:.:.	0/1:272:255,0,255:138,134	C	T	0	1	Zinc finger protein-208, 603977	.	.	.	8467795|9724325	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	.	http://www.proteinatlas.org/ENSG00000160321-ZNF208/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	heart muscle: 5.2	.	.	PM1
L	19	22157095	rs534477649	A	G	222	PASS	ZNF208	Zinc finger protein-208	exonic	NM_007153	.	synonymous SNV	ZNF208:NM_007153:exon4:c.T741C:p.H247H	ENST00000601773.5,ENSG00000160321.14,ENST00000599916.5,ENST00000609966.5,ENST00000397126.8	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs534477649	.	.	0.00498339	0.003	0.000798722	.	0.00042172	275064	0.00456718	18830	0.00777303	0.00440141	.	.	.	.	.	.	.	.	.	.	.	-0.358	-0.315	.	.	.	VDB=0.903148;SGB=-0.693147;RPB=0.905243;MQB=1.45132e-31;MQSB=0.908508;BQB=0.783548;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=287;DP4=65,54,65,44;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:152:.:.	0/0:101:.:.	0/0:113:.:.	0/0:101:.:.	0/0:148:.:.	0/1:228:255,0,255:119,109	A	G	0	1	Zinc finger protein-208, 603977	.	.	.	8467795|9724325	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	.	http://www.proteinatlas.org/ENSG00000160321-ZNF208/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	heart muscle: 5.2	.	.	BP7
L	19	22272101	rs148612115	T	C	222	PASS	ZNF257	Zinc finger protein 257	exonic	NM_001316996,NM_001316997,NM_001316998,NM_033468	.	missense SNV	ZNF257:NM_001316998:exon2:c.T1321C:p.C441R,ZNF257:NM_033468:exon4:c.T1549C:p.C517R,ZNF257:NM_001316996:exon5:c.T1453C:p.C485R,ZNF257:NM_001316997:exon5:c.T1321C:p.C441R	ENSG00000197134.11,ENST00000435820.6,ENST00000594947.5	.	19p12	.	.	.	.	.	rs148612115	.	.	0.0531561	0.0486	0.0101837	.	0.00354643	276334	0.05101391	18838	0.03886514	0.04841549	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.0,D	0.748,P	0.971,D	0.999721,D	.	4.345,H	.	7.1199	0.436	5.352	3.333060,22.9	.	.	VDB=0.000496772;SGB=-0.693147;RPB=0.90413;MQB=6.5427e-22;MQSB=0.919195;BQB=0.271308;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=640;DP4=159,108,136,78;MinDP=100;AN=18;AC=3	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:165:255,0,255:104,61	0/1:138:255,0,255:77,61	0/0:100:.:.	0/1:178:255,0,255:86,92	T	C	0	3	Zinc finger protein 257, 606957	.	.	.	10585455	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000197134-ZNF257/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	lymph node: 1.5	.	.	BS1, PM1
L	19	22574969	rs62118623	A	G	123	PASS	ZNF98	Zinc finger protein-98	exonic	NM_001098626	.	synonymous SNV	ZNF98:NM_001098626:exon4:c.T1068C:p.G356G	ENST00000357774.9,ENSG00000197360.9	.	19p12	.	.	.	Score=0.953018;Name=chr19:22818669	.	rs62118623	.	.	.	.	.	.	0.01471200	259516	0.00459757	17618	0.06721915	0.00702576	.	.	.	.	.	.	.	.	.	.	.	-1.885	-1.198	.	.	.	VDB=0.280217;SGB=-0.693147;RPB=0.357206;MQB=0.000586679;MQSB=0.0025282;BQB=0.957844;MQ0F=0;ICB=1;HOB=0.5;MQ=31;DP=402;DP4=139,77,59,25;MinDP=100;AN=14;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:104:.:.	0/0:100:.:.	./.:.:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	./.:.:.:.	0/1:300:157,0,255:216,84	A	G	0	1	Zinc finger protein-98, 603980	.	.	.	8467795	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	.	http://www.proteinatlas.org/ENSG00000197360-ZNF98/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 1.7	.	.	BP7
L	19	22574988	rs200887709	T	C	94	PASS	ZNF98	Zinc finger protein-98	exonic	NM_001098626	.	missense SNV	ZNF98:NM_001098626:exon4:c.A1049G:p.Y350C	ENST00000357774.9,ENSG00000197360.9	.	19p12	.	.	.	Score=0.953018;Name=chr19:22818669	.	rs200887709	.	.	.	.	.	.	0.00428441	261880	0.00492583	17662	0.07369615	0.00112867	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.011,D	0.009,B	0.007,B	0.999967,N	.	2.855,M	1.8,T	4.2764	0.566	-0.617	.	.	0.00167525312424	VDB=0.00416528;SGB=-0.693147;RPB=0.0313772;MQB=0.00472396;MQSB=0.0266548;BQB=0.723846;MQ0F=0;ICB=1;HOB=0.5;MQ=32;DP=365;DP4=113,81,49,26;MinDP=100;AN=14;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:104:.:.	0/0:100:.:.	./.:.:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	./.:.:.:.	0/1:269:128,0,255:194,75	T	C	0	1	Zinc finger protein-98, 603980	.	.	.	8467795	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	.	http://www.proteinatlas.org/ENSG00000197360-ZNF98/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 1.7	.	.	BP4, PM1
L	19	22575777	rs200167484	T	C	86	PASS	ZNF98	Zinc finger protein-98	exonic	NM_001098626	.	missense SNV	ZNF98:NM_001098626:exon4:c.A260G:p.Y87C	ENST00000593657.5,ENST00000357774.9,ENSG00000197360.9	.	19p12	.	.	.	Score=0.953018;Name=chr19:22818669	.	rs200167484	.	.	.	.	.	.	0.02328039	161810	0.02201258	12720	0.08733014	0.00443262	.	.	.	1.0,T	0.0,B	0.0,B	1,N	.	-1.82,N	3.31,T	3.4345	-1.771	-0.524	.	.	.	VDB=0.00127738;SGB=-0.662043;RPB=0.107885;MQB=3.4117e-05;MQSB=0.925961;BQB=0.894396;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=131;DP4=34,47,3,24;MinDP=10;AN=18;AC=3	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/1:41:97,0,255:32,9	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:31:77,0,255:23,8	0/1:36:120,0,255:26,10	T	C	0	3	Zinc finger protein-98, 603980	.	.	.	8467795	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	.	http://www.proteinatlas.org/ENSG00000197360-ZNF98/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 1.7	.	.	BP4
L	19	23543780	rs190273509	A	G	222	PASS	ZNF91	Zinc finger protein-91	exonic	NM_001300951,NM_003430	.	synonymous SNV	ZNF91:NM_001300951:exon3:c.T1905C:p.F635F,ZNF91:NM_003430:exon4:c.T2001C:p.F667F	ENST00000397082.2,ENST00000596989.1,ENST00000599743.5,ENST00000300619.11,ENSG00000167232.13	.	19p12	.	.	.	.	.	rs190273509	.	.	0.0249169	0.0198	0.00419329	.	0.00206842	276540	0.02932754	18856	0.02603964	0.02552817	.	.	.	.	.	.	.	.	.	.	.	0.765	0.473	.	.	.	VDB=0.00506931;SGB=-0.693147;RPB=0.890483;MQB=5.45537e-16;MQSB=0.0195217;BQB=0.991623;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=302;DP4=68,53,64,59;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:103:.:.	0/0:134:.:.	0/0:157:.:.	0/0:100:.:.	0/0:144:.:.	0/0:116:.:.	0/0:102:.:.	0/1:244:255,0,255:121,123	A	G	0	1	Zinc finger protein-91, 603971	.	.	.	8467795|2023909|25274305	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DNA_METABOLIC_PROCESS	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000167232-ZNF91/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 11.5	.	.	BP7
H	19	32843992	.	T	C	222	PASS	ZNF507	.	exonic	NM_001136156,NM_014910	.	missense SNV	ZNF507:NM_014910:exon2:c.T256C:p.C86R,ZNF507:NM_001136156:exon3:c.T256C:p.C86R	ENST00000311921.8,ENST00000355898.5,ENST00000544431.5,ENST00000587084.5,ENSG00000168813.16	.	19q13.11	.	.	.	.	.	.	.	.	.	.	.	.	0.00003228	30980	.	.	.	.	.	0.0177	.	0.072,T	0.748,P	0.958,D	0.999897,D	0.014566,N	2.175,M	3.35,T	8.2295	0.997	0.584	.	4.78	0.00979834903532	VDB=0.231522;SGB=-0.689466;RPB=0.949208;MQB=8.52132e-06;MQSB=0.644546;BQB=0.930152;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=60;DP4=17,13,8,8;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:51:.:.	0/0:35:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:46:255,0,255:30,16	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal cells displayed moderate to strong cytoplasmic positivity. Glial cells and spleen were weakly stained.	http://www.proteinatlas.org/ENSG00000168813-ZNF507/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 17.5	nucleoli; cytoplasm	.	PM2
L-	19	34180077	rs76109558	C	T	138	PASS	CHST8	Carbohydrate sulfotransferase 8	splicing	NM_001127895,NM_001127896,NM_022467	NM_001127895:exon3:UTR5;NM_001127896:exon2:UTR5;NM_022467:exon2:UTR5	.	.	ENST00000262622.4,ENST00000604556.1,ENSG00000124302.12,ENST00000591231.5,ENST00000438847.7,ENST00000434302.5	.	19q13.11	.	.	.	.	.	rs76109558	.	.	0.00166113	0.005	0.0113818	.	0.01046798	30856	0.00123305	1622	0.00330354	0.00264550	0.0001,0.006	0.6821	.	.	.	.	.	.	.	.	.	-0.250	-1.742	.	.	.	VDB=0.0467443;SGB=-0.692352;RPB=0.896053;MQB=2.65151e-07;BQB=0.970334;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=83;DP4=41,0,21,0;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:51:.:.	0/0:52:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:62:171,0,225:41,21	C	T	0	1	?Peeling skin syndrome 3, 616265 (3), Autosomal recessive	.	.	.	22289416|11445554|18431515|11001942|10988300	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PROTEOGLYCAN_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_HORMONE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_HORMONE_METABOLIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS;GO_SULFOTRANSFERASE_ACTIVITY	.	.	.	.	A majority of normal cells showed moderate to strong cytoplasmic staining. Liver, fallopian tube and endometrium were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000124302-CHST8/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 1.1	.	.	.
H	19	34869900	rs199742342	C	T	222	PASS	GPI	Glucose phosphate isomerase; neuroleukin	exonic	NM_000175,NM_001184722,NM_001289789,NM_001289790,NM_001329909,NM_001329910,NM_001329911	.	missense SNV	GPI:NM_001289790:exon6:c.C611T:p.A204V,GPI:NM_000175:exon7:c.C695T:p.A232V,GPI:NM_001184722:exon7:c.C728T:p.A243V,GPI:NM_001329911:exon7:c.C695T:p.A232V,GPI:NM_001289789:exon8:c.C812T:p.A271V,GPI:NM_001329909:exon8:c.C695T:p.A232V,GPI:NM_001329910:exon8:c.C695T:p.A232V	ENST00000586425.1,ENST00000588991.6,ENST00000356487.9,ENST00000590362.1,ENST00000415930.7,ENSG00000105220.14	.	19q13.11	.	.	.	.	.	rs199742342	.	.	.	.	.	.	0.00006493	277216	0.00026497	18870	0.00019433	0.00088028	.	-0.6211	.	0.129,T	0.067,B	0.156,B	1,N	0.845274,N	2.6,M	-3.17,D	7.3728	0.872	1.906	1.229205,11.90	.	0.0679836637724	VDB=0.0509792;SGB=-0.693147;RPB=0.980186;MQB=1.69167e-18;MQSB=0.987225;BQB=0.721149;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=187;DP4=40,31,41,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:140:255,0,255:71,68	C	T	0	1	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive	.	.	.	3352744|3352745|3020690|3764429|4711874|411100|3034518|8822954|5475507|9856489|4120258|6946512|3804329|3864596|9635595|5550600|1088818|434771|11477412|4076245|4809302|6825466|5475506|5026849|8499925|8530082|4202114|8575767	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_NUCLEOTIDE_PHOSPHORYLATION;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CELLULAR_CATABOLIC_PROCESS;GO_MYELOID_CELL_HOMEOSTASIS;GO_CHEMICAL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ERYTHROCYTE_HOMEOSTASIS;GO_TISSUE_MORPHOGENESIS;GO_COFACTOR_METABOLIC_PROCESS;GO_CELL_DEATH;GO_ALDEHYDE_CATABOLIC_PROCESS;GO_ATP_GENERATION_FROM_ADP;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_MONOSACCHARIDE_CATABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_CELLULAR_KETONE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NAD_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ADP_METABOLIC_PROCESS;GO_GLUCOSE_6_PHOSPHATE_METABOLIC_PROCESS;GO_HEXOSE_CATABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_EMBRYO_DEVELOPMENT;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_HUMORAL_IMMUNE_RESPONSE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_GASTRULATION;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_MESODERM_MORPHOGENESIS;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NADH_METABOLIC_PROCESS;GO_EMBRYONIC_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_SYSTEM_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_ALDEHYDE_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_IMMUNE_RESPONSE;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_KETONE_BIOSYNTHETIC_PROCESS;GO_GLUCOSE_METABOLIC_PROCESS;GO_CARBOHYDRATE_HOMEOSTASIS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_HEXOSE_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRUVATE_METABOLIC_PROCESS;GO_MESODERM_DEVELOPMENT;GO_ANGIOGENESIS;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_GLUCOSE_CATABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_BEHAVIOR;GO_TISSUE_DEVELOPMENT;GO_HEMOSTASIS;GO_RIBONUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	GO_CELL_PROJECTION_MEMBRANE;GO_NEURON_PART;GO_CILIARY_PART;GO_MYELIN_SHEATH;GO_NEURON_PROJECTION;GO_EXTRACELLULAR_SPACE;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CILIARY_MEMBRANE;GO_CELL_PROJECTION_PART;GO_MEMBRANE_REGION;GO_CILIUM	GO_CARBOHYDRATE_BINDING;GO_INTRAMOLECULAR_TRANSFERASE_ACTIVITY;GO_GROWTH_FACTOR_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_RECEPTOR_BINDING;GO_ISOMERASE_ACTIVITY;GO_CYTOKINE_ACTIVITY;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_INTERCONVERTING_ALDOSES_AND_KETOSES	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	BIOCARTA_GLYCOLYSIS_PATHWAY	REACTOME_GLYCOLYSIS;REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000105220-GPI/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 194.2	plasma membrane; cytoplasm; nucleus but not nucleoli	.	PM2, PP2
L+	19	34973023	.	G	C	58	PASS	WTIP	WT1-interacting protein	exonic	NM_001080436	.	synonymous SNV	WTIP:NM_001080436:exon1:c.G144C:p.A48A	ENSG00000142279.12,ENST00000590071.6	CpG: 180	19q13.11	.	.	.	.	.	.	.	.	.	.	.	.	0.00160858	26110	0.02478315	1614	0.01859100	0.03368794	.	.	.	.	.	.	.	.	.	.	.	1.074	-0.054	.	.	.	VDB=0.230191;SGB=-0.556411;RPB=0.503877;MQB=0.167959;MQSB=0.641538;BQB=0.335918;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=13;DP4=4,2,3,1;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:6:.:.	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:10:.:.	0/0:5:.:.	0/0:5:.:.	0/0:5:.:.	0/1:10:91,0,188:6,4	G	C	0	1	WT1-interacting protein, 614790	.	.	.	20086015|21900451|14736876|19785987	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_GENE_SILENCING;GO_POSTTRANSCRIPTIONAL_GENE_SILENCING;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_POSTTRANSCRIPTIONAL_GENE_SILENCING;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_GENE_SILENCING_BY_RNA;GO_REGULATION_OF_GENE_SILENCING;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_CELL_MORPHOGENESIS	GO_CYTOPLASMIC_MRNA_PROCESSING_BODY;GO_CELL_JUNCTION;GO_RIBONUCLEOPROTEIN_GRANULE;GO_ANCHORING_JUNCTION;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ZINC_ION_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000142279-WTIP/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 21.6	.	.	BP7
L	19	35232404	rs201426482	G	C	90	PASS	ZNF181	Zinc finger protein-181	exonic	NM_001029997,NM_001145665	.	missense SNV	ZNF181:NM_001029997:exon4:c.G1118C:p.G373A,ZNF181:NM_001145665:exon4:c.G1115C:p.G372A	ENST00000492450.2,ENST00000392232.7,ENST00000448715.2,ENST00000459757.6,ENSG00000197841.14	.	19q13.11	.	.	.	Score=0.909821;Name=chr19:35028657	.	rs201426482	.	.	.	.	.	.	0.00013076	244718	0.00183733	16328	0.01196548	0.00352734	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2	0.003,D	0.999,D	1.0,D	0.990873,D	.	1.55,L	1.74,T	11.88	1.876	4.419	3.335969,22.9	2.84	.	VDB=0.00106071;SGB=-0.690438;RPB=0.0276915;MQB=1.75951e-08;MQSB=0.507858;BQB=0.922322;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=72;DP4=30,14,15,2;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:37:.:.	0/0:39:.:.	0/0:50:.:.	0/1:61:124,0,255:44,17	G	C	0	1	Zinc finger protein-181, 606741	.	.	.	8914611	.	.	.	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic staining. Stomach, renal tubules and parathyroid exhibited strong positivity. Cells in glomeruli, glial cells, skin, mesenchymal cells, smooth and skeletal muscle were mainly negative.	http://www.proteinatlas.org/ENSG00000197841-ZNF181/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 14.3	nucleus; cytoplasm	.	PM1, PP3
M	19	35828903	rs182604067	G	A	222	PASS	CD22	CD22 antigen	exonic	NM_001185099,NM_001185100,NM_001278417,NM_001771	.	missense SNV	CD22:NM_001278417:exon4:c.G448A:p.E150K,CD22:NM_001185099:exon5:c.G964A:p.E322K,CD22:NM_001185100:exon5:c.G964A:p.E322K,CD22:NM_001771:exon5:c.G964A:p.E322K	ENST00000601769.5,ENST00000598815.5,ENST00000600424.5,ENST00000597433.1,ENSG00000012124.16,ENST00000419549.6,ENST00000544992.6,ENST00000601329.5,ENST00000594349.1,ENST00000599811.5,ENST00000536635.6,ENST00000594250.5,ENST00000600655.1,ENST00000341773.10,ENST00000085219.9	.	19q13.12	.	.	.	.	.	rs182604067	.	.	0.0398671	0.0327	0.00678914	.	0.00146394	275284	0.02104761	18862	0.00874466	0.00792254	.	-0.9712	CD80-like, immunoglobulin C2-set;Immunoglobulin-like domain;Immunoglobulin-like fold	0.344,T	0.034,B	0.081,B	1,N	0.819318,N	0.16,N	2.69,T	7.4011	-0.112	0.168	.	.	.	VDB=0.0155756;SGB=-0.693147;RPB=0.977129;MQB=3.92422e-16;MQSB=0.954413;BQB=0.944661;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=176;DP4=27,39,44,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/1:139:255,0,255:66,73	G	A	0	1	CD22 antigen, 107266	.	.	.	10722703|15133509|12646615|8864124|11021804|12493916|1985119|8496602	GO_BIOLOGICAL_ADHESION	.	GO_CARBOHYDRATE_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY	PID_BCR_5PATHWAY	.	.	High and selective cytoplasmic expression in subsets of lymphocytes.	http://www.proteinatlas.org/ENSG00000012124-CD22/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 97.9	nucleus; cytoplasm	.	BP4, PM1
L	19	36002370	rs878988719	A	ACCACTGCTGCTG	225	PASS	DMKN	Dermokine	exonic	NM_001126057,NM_001126058,NM_001190348,NM_001190349,NM_033317	.	nonframeshift insertion	DMKN:NM_001126057:exon5:c.860_861insCAGCAGCAGTGG:p.G287delinsGSSSG,DMKN:NM_001126058:exon5:c.860_861insCAGCAGCAGTGG:p.G287delinsGSSSG,DMKN:NM_001190348:exon5:c.860_861insCAGCAGCAGTGG:p.G287delinsGSSSG,DMKN:NM_001190349:exon5:c.860_861insCAGCAGCAGTGG:p.G287delinsGSSSG,DMKN:NM_033317:exon5:c.860_861insCAGCAGCAGTGG:p.G287delinsGSSSG	ENST00000339686.7,ENST00000419602.5,ENSG00000161249.20,ENST00000424570.6,ENST00000429837.5,ENST00000447113.6,ENST00000451297.6,ENST00000418261.5	.	19q13.12	.	.	.	.	Score=399;Name="2174499:(CTG)n(Simple_repeat)"	rs878988719	.	.	.	.	.	.	.	.	.	.	0.18737711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244474,5.320	.	.	INDEL;VDB=0.0155431;SGB=-0.692831;MQSB=0.328315;MQ0F=0;MQ=40;ICB=1;HOB=0.5;DP=202;DP4=67,10,57,23;IDV=15;IMF=0.294118;MinDP=20;AN=18;AC=5	GT:DP:PL:AD	0/0:30:.:.	0/0:22:.:.	1/1:24:255,72,0:0,24	0/1:44:255,0,212:25,19	0/0:50:.:.	0/0:20:.:.	0/1:35:255,0,172:18,17	0/0:30:.:.	0/1:54:255,0,207:34,20	A	ACCACTGCTGCTG	1	3	Dermokine, 617211	.	.	.	22735594|21423773|24794495|15234001|17380110|16374476	.	.	.	.	.	.	.	Expression in squamous epithelium.	http://www.proteinatlas.org/ENSG00000161249-DMKN/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	esophagus: 175.4	nucleus but not nucleoli; cytoplasm	.	.
H-	19	36206186	rs373706432	G	A	222	PASS	ZBTB32	Zinc finger- and BTB domain-containing protein 32	exonic	NM_014383	.	missense SNV	ZBTB32:NM_014383:exon3:c.G658A:p.G220R	ENST00000392197.6,ENST00000481182.1,ENST00000262630.7,ENST00000426659.6,ENSG00000011590.13	.	19q13.12	.	.	.	.	.	rs373706432	.	.	.	.	.	.	0.00004965	221540	0.00067918	16196	0.00116595	0.00088028	.	0.4487	.	0.425,T	0.002,B	0.002,B	1,N	0.305570,N	1.04,L	3.03,T	6.2455	0.157	0.059	1.544186,13.55	.	0.00444816976104	VDB=0.0871676;SGB=-0.693147;RPB=0.957407;MQB=2.58119e-16;MQSB=0.79576;BQB=0.857326;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=178;DP4=43,27,38,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:135:255,0,255:70,65	G	A	0	1	Zinc finger- and BTB domain-containing protein 32, 605859	.	.	.	10572087|10544010	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DNA_REPAIR;GO_INTERSTRAND_CROSS_LINK_REPAIR;GO_DETECTION_OF_STIMULUS;GO_DNA_DAMAGE_RESPONSE_DETECTION_OF_DNA_DAMAGE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ZINC_ION_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	REACTOME_REGULATION_OF_THE_FANCONI_ANEMIA_PATHWAY;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DNA_REPAIR	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000011590-ZBTB32/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	lymph node: 1.8	.	.	PM2
L-	19	37005637	rs576745197	C	T	222	PASS	ZNF260	Zinc finger protein 260	exonic	NM_001012756,NM_001166036,NM_001166037,NM_001166038	.	synonymous SNV	ZNF260:NM_001166037:exon3:c.G504A:p.Q168Q,ZNF260:NM_001166038:exon3:c.G504A:p.Q168Q,ZNF260:NM_001012756:exon4:c.G504A:p.Q168Q,ZNF260:NM_001166036:exon4:c.G504A:p.Q168Q	ENST00000588993.1,ENST00000523638.5,ENSG00000254004.6,ENST00000592282.1,ENST00000593142.5	.	19q13.12	.	.	.	.	.	rs576745197	.	.	0.00166113	0.003	0.000599042	.	0.00021310	276862	0.00307399	18868	0.00194326	.	.	.	.	.	.	.	.	.	.	.	.	-1.022	-5.037	.	.	.	VDB=0.425957;SGB=-0.692831;RPB=0.804286;MQB=6.6156e-08;MQSB=0.898904;BQB=0.987282;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=61;DP4=15,10,15,9;MinDP=25;AN=18;AC=1	GT:DP:PL:AD	0/0:25:.:.	0/0:45:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:40:.:.	0/1:49:255,0,255:25,24	C	T	0	1	Zinc finger protein 260, 613749	.	.	.	10449921|16166646|21051538	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Most normal tissues showed moderate to strong nuclear positivity, often combined with weaker cytoplasmic staining. Liver, parathyroid and skeletal muscles were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000254004-ZNF260/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 8.7	nucleus but not nucleoli; cytoplasm	.	BP7, PM2
H	19	37210581	rs370337701	C	T	222	PASS	ZNF567	.	exonic	NM_001300979,NM_001322911,NM_001322912,NM_001322913,NM_001322914,NM_001322915,NM_001322916,NM_001322917,NM_001322918,NM_001322919,NM_001322920,NM_152603	.	missense SNV	ZNF567:NM_001322911:exon5:c.C862T:p.R288C,ZNF567:NM_001322912:exon5:c.C862T:p.R288C,ZNF567:NM_152603:exon5:c.C862T:p.R288C,ZNF567:NM_001300979:exon6:c.C955T:p.R319C,ZNF567:NM_001322913:exon6:c.C955T:p.R319C,ZNF567:NM_001322914:exon6:c.C955T:p.R319C,ZNF567:NM_001322916:exon6:c.C955T:p.R319C,ZNF567:NM_001322917:exon6:c.C955T:p.R319C,ZNF567:NM_001322919:exon6:c.C955T:p.R319C,ZNF567:NM_001322915:exon7:c.C955T:p.R319C,ZNF567:NM_001322918:exon7:c.C955T:p.R319C,ZNF567:NM_001322920:exon7:c.C955T:p.R319C	ENST00000588311.5,ENST00000536254.6,ENST00000360729.8,ENST00000591308.1,ENSG00000189042.13,ENSG00000267041.5,ENST00000589264.5,ENST00000589390.5,ENST00000585696.5	.	19q13.12	.	.	.	.	.	rs370337701	.	.	.	.	.	7.7e-05	0.00007223	276890	0.00010607	18856	.	.	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.184,T	0.94,D	1.0,D	1,N	0.000741,D	0.935,L	3.19,T	11.0001	1.229	-0.368	4.673044,24.5	3.47	0.00784303490932	VDB=0.35476;SGB=-0.69312;RPB=0.943069;MQB=0.273056;MQSB=0.561061;BQB=0.940882;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=88;DP4=24,8,22,10;MinDP=43;AN=18;AC=1	GT:DP:PL:AD	0/0:43:.:.	0/0:56:.:.	0/0:52:.:.	0/0:57:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:60:.:.	0/1:64:255,0,255:32,32	C	T	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Moderate to strong cytoplasmic and/or nuclear positivity was observed in most normal tissues. Most squamous epithelia were weakly stained.	http://www.proteinatlas.org/ENSG00000189042-ZNF567/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.7	nucleus; cytoplasm; mitochondria	.	PM1, PM2
M	19	37383091	rs560468006	C	T	222	PASS	ZNF829	.	exonic	NM_001037232,NM_001171979	.	missense SNV	ZNF829:NM_001037232:exon6:c.G602A:p.R201Q,ZNF829:NM_001171979:exon6:c.G845A:p.R282Q	ENST00000391711.7,ENST00000525851.1,ENST00000432005.6,ENST00000586933.5,ENST00000534729.5,ENSG00000251247.10,ENST00000520965.5,ENSG00000185869.14,ENST00000526123.5,ENST00000529989.1	.	19q13.12	.	.	.	.	.	rs560468006	.	.	.	.	.	.	0.00002526	277078	0.00005301	18864	.	.	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2	1.0,T	0.007,B	0.072,B	1,N	.	1.73,L	1.75,T	8.4247	0.112	-4.792	.	.	0.00405034510712	VDB=0.644059;SGB=-0.693097;RPB=0.474243;MQB=2.15402e-09;MQSB=0.939504;BQB=0.0328124;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=76;DP4=16,12,17,13;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:58:255,0,255:28,30	C	T	0	1	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000185869-ZNF829/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 2.2	.	.	BP4, PM1, PM2
L	19	38229882	rs184252524	A	G	228	PASS	ZNF573	.	exonic	NM_001172689,NM_001172690,NM_001172691,NM_001172692,NM_152360	.	synonymous SNV	ZNF573:NM_001172692:exon4:c.T1245C:p.C415C,ZNF573:NM_001172690:exon5:c.T1509C:p.C503C,ZNF573:NM_001172691:exon5:c.T1503C:p.C501C,ZNF573:NM_001172689:exon6:c.T1245C:p.C415C,ZNF573:NM_152360:exon8:c.T1335C:p.C445C	ENST00000589632.5,ENSG00000189144.13,ENST00000392138.5,ENST00000339503.7,ENST00000590674.1,ENST00000357309.7,ENST00000536220.5,ENST00000590414.6,ENST00000586155.5	.	19q13.12	.	.	.	.	.	rs184252524	.	.	0.0149502	0.0149	0.00299521	.	0.00147077	276726	0.02116037	18856	0.01748931	0.02288732	.	.	.	.	.	.	.	.	.	.	.	0.084	1.159	.	.	.	VDB=0.367268;SGB=-0.693097;RPB=1;MQB=1;MQSB=0.825504;BQB=1;MQ0F=0;MQ=41;ICB=1;HOB=0.5;DP=123;DP4=24,6,34,24;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:33:.:.	0/0:43:.:.	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	1/1:31:255,56,0:1,30	0/0:50:.:.	0/1:57:255,0,255:29,28	A	G	1	1	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Moderate to strong cytoplasmic staining with a granular pattern was observed in most normal tissues.	http://www.proteinatlas.org/ENSG00000189144-ZNF573/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 3.4	cytoskeleton (intermediate filaments); cytoplasm	.	BP7
L	19	38798263	rs74719810	C	T	222	PASS	YIF1B	.	exonic	NM_001039671,NM_001039672,NM_001039673,NM_001145461,NM_001145462,NM_001145463	.	synonymous SNV	YIF1B:NM_001039671:exon6:c.G624A:p.V208V,YIF1B:NM_001039672:exon6:c.G669A:p.V223V,YIF1B:NM_001039673:exon6:c.G660A:p.V220V,YIF1B:NM_001145461:exon6:c.G618A:p.V206V,YIF1B:NM_001145462:exon6:c.G576A:p.V192V,YIF1B:NM_001145463:exon6:c.G660A:p.V220V	ENST00000392124.7,ENSG00000167645.16,ENST00000591755.5,ENST00000591784.5,ENST00000586319.5,ENST00000592694.5,ENST00000337679.12,ENST00000589247.1,ENST00000592246.5,ENST00000339413.10,ENST00000588002.5,ENST00000589151.1,ENST00000329420.12,ENST00000585563.5,ENST00000589644.1	.	19q13.2	.	.	Score=818;Name=V$SRF_C	.	.	rs74719810	.	.	0.0215947	0.0258	0.00559105	.	0.00096393	276990	0.01357226	18862	0.00991061	0.00795053	.	-0.0795	.	.	.	.	.	.	.	.	.	2.684	0.019	.	4.61	.	VDB=0.652526;SGB=-0.693139;RPB=0.226286;MQB=1.03463e-08;MQSB=0.251906;BQB=0.975169;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=239;DP4=65,54,34,32;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:98:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:82:255,0,255:46,36	0/0:100:.:.	0/0:95:.:.	0/0:50:.:.	0/1:103:255,0,255:73,30	C	T	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Small intestine and renal tubules exhibited strong immunoreactivity. Lymphoid tissues, soft tissues, lung, skin, bile ducts, islet of Langerhans and smooth muscle cells were generally negative.	http://www.proteinatlas.org/ENSG00000167645-YIF1B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 36.0	.	.	.
M	19	38855602	rs187860202	G	T	222	PASS	CATSPERG	Cation channel, sperm-associated, gamma	exonic	NM_001330496,NM_021185	.	missense SNV	CATSPERG:NM_001330496:exon20:c.G2427T:p.M809I,CATSPERG:NM_021185:exon21:c.G2547T:p.M849I	ENST00000410018.5,ENST00000409235.7,ENSG00000099338.22,ENST00000412458.6,ENST00000492088.3,ENST00000312265.9,ENST00000471517.5	.	19q13.2	.	.	.	.	.	rs187860202	.	.	0.013289	0.0109	0.00259585	.	0.00034628	277234	0.00461049	18870	0.00330354	0.00352113	.	-1.5374	.	0.065,T	0.032,B	0.114,B	1,N	0.186503,N	1.845,L	1.46,T	5.9913	1.117	1.247	.	2.07	.	VDB=0.828349;SGB=-0.69312;RPB=0.730051;MQB=3.77972e-12;MQSB=0.814946;BQB=0.567009;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=193;DP4=45,30,38,32;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:72:255,0,255:40,32	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:73:255,0,255:35,38	G	T	0	2	Cation channel, sperm-associated, gamma, 613452	.	.	.	19516020	GO_SINGLE_FERTILIZATION;GO_RESPONSE_TO_STEROID_HORMONE;GO_MALE_GAMETE_GENERATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_RESPONSE_TO_KETONE;GO_RESPONSE_TO_HORMONE;GO_SPERM_EGG_RECOGNITION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_LIPID;GO_RESPONSE_TO_PROGESTERONE;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_CELL_RECOGNITION;GO_FERTILIZATION;GO_CELL_CELL_RECOGNITION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_SPERM_PART;GO_MOTILE_CILIUM;GO_CILIARY_PART;GO_CATION_CHANNEL_COMPLEX;GO_SPERM_PRINCIPAL_PIECE;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SPERM_FLAGELLUM;GO_CALCIUM_CHANNEL_COMPLEX;GO_CILIUM;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	.	.	.	.	.	RNA data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000099338-CATSPERG/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 0.4	.	.	BP4
H	19	39369910	rs200229086	A	G	222	PASS	SIRT2	Sirtuin, S. cerevisiae, homolog 2	exonic	NM_012237,NM_030593	.	missense SNV	SIRT2:NM_030593:exon15:c.T944C:p.I315T,SIRT2:NM_012237:exon16:c.T1055C:p.I352T	ENST00000479290.5,ENST00000249396.11,ENST00000358931.9,ENST00000462654.5,ENST00000392081.6,ENSG00000068903.19,ENST00000613542.4	.	19q13.2	.	.	Score=916;Name=V$CDPCR3HD_01	.	.	rs200229086	.	.	0.00830565	0.0089	0.00239617	.	0.00037355	273056	0.00479949	18752	0.00213758	0.00176678	.	.	DHS-like NAD/FAD-binding domain;Sirtuin family, catalytic core domain	0.022,D	0.985,D	1.0,D	1,D	0.000355,D	2.83,M	2.26,T	10.2741	0.887	5.029	5.823900,27.2	4.08	0.0447639939299	VDB=0.482657;SGB=-0.693147;RPB=0.978407;MQB=1.89638e-13;MQSB=0.976518;BQB=0.886162;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=331;DP4=96,31,95,22;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/1:108:255,0,255:53,55	0/0:100:.:.	0/1:136:255,0,255:74,62	A	G	0	2	Sirtuin, S. cerevisiae, homolog 2, 604480	.	.	.	10393250|12610228|19270680|12697818|10381378|23201684|12620231|17588900|12459580|10473645|6098447|10619427|24203696	GO_REGULATION_OF_NLRP3_INFLAMMASOME_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_AUTOPHAGY;GO_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_MATURATION;GO_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_NEGATIVE_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION;GO_IMMUNE_SYSTEM_PROCESS;GO_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_NECROPTOTIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GLIOGENESIS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_MEIOTIC_NUCLEAR_DIVISION;GO_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_NECROTIC_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_NEGATIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION;GO_CELL_DEATH;GO_MACROMOLECULE_DEACYLATION;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_GLIAL_CELL_DEVELOPMENT;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_MYELINATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_EXIT_FROM_MITOSIS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MEIOTIC_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_NEGATIVE_REGULATION_OF_AUTOPHAGY;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_MEIOTIC_CELL_CYCLE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ORGANELLE_FISSION;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_BACTERIUM;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_CELL_DIVISION;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_GLIOGENESIS;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_DNA_BINDING;GO_ENSHEATHMENT_OF_NEURONS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_SUBSTANTIA_NIGRA_DEVELOPMENT;GO_PROTEIN_KINASE_B_SIGNALING;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_MIDBRAIN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_COVALENT_CHROMATIN_MODIFICATION;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_THREONINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_MITOTIC_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_EPINEPHRINE_STIMULUS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_PROTEIN_ADP_RIBOSYLATION;GO_CHROMATIN_ORGANIZATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_IN_RESPONSE_TO_HYPOXIA;GO_REGULATION_OF_CELL_CYCLE;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_RESPONSE_TO_HEPATOCYTE_GROWTH_FACTOR;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_GENE_SILENCING;GO_HEAD_DEVELOPMENT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_IMMUNE_RESPONSE;GO_MEIOTIC_CELL_CYCLE;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_GROWTH_FACTOR;GO_PERIPHERAL_NERVOUS_SYSTEM_AXON_ENSHEATHMENT;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PEPTIDYL_THREONINE_PHOSPHORYLATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_IN_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SCHWANN_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_LIPID_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CHROMATIN_SILENCING;GO_RESPONSE_TO_EPINEPHRINE;GO_SCHWANN_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_GLIAL_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_GLYCOSYLATION;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_CHROMATIN_SILENCING_AT_RDNA;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_BINDING;GO_REGULATION_OF_GLIOGENESIS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_BACTERIUM;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_EXECUTION_PHASE_OF_APOPTOSIS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_REDOX_STATE;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_PROTEOLYSIS;GO_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_RESPONSE_TO_MONOAMINE;GO_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_HISTONE_H3_DEACETYLATION;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_EXECUTION_PHASE_OF_APOPTOSIS;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CHROMOSOME;GO_CENTRIOLE;GO_MICROTUBULE_CYTOSKELETON;GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_SITE_OF_POLARIZED_GROWTH;GO_CHROMOSOMAL_REGION;GO_MITOTIC_SPINDLE;GO_NEURON_PART;GO_AXON;GO_CENTROSOME;GO_COMPACT_MYELIN;GO_NUCLEAR_CHROMOSOME;GO_PARANODE_REGION_OF_AXON;GO_CHROMATIN;GO_CELL_JUNCTION;GO_NUCLEAR_CHROMATIN;GO_MYELIN_SHEATH;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_GLIAL_CELL_PROJECTION;GO_NUCLEAR_HETEROCHROMATIN;GO_NEURON_PROJECTION;GO_SCHMIDT_LANTERMAN_INCISURE;GO_MIDBODY;GO_HETEROCHROMATIN;GO_CELL_CELL_JUNCTION;GO_SUPRAMOLECULAR_FIBER;GO_CELL_BODY;GO_MAIN_AXON;GO_CHROMOSOME_TELOMERIC_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_PERIKARYON;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER;GO_AXON_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_BINDING;GO_PROTEIN_DEACETYLASE_ACTIVITY;GO_HISTONE_DEACETYLASE_BINDING;GO_NAD_ADP_RIBOSYLTRANSFERASE_ACTIVITY;GO_BETA_TUBULIN_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_NAD_BINDING;GO_TUBULIN_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_NAD_DEPENDENT_PROTEIN_DEACETYLASE_ACTIVITY;GO_ENZYME_BINDING;GO_COFACTOR_BINDING;GO_ZINC_ION_BINDING;GO_CHROMATIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES;GO_HISTONE_ACETYLTRANSFERASE_BINDING;GO_DEACETYLASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS;GO_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_OXIDIZED_NAD_BINDING;GO_COENZYME_BINDING	.	PID_HDAC_CLASSIII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	.	.	Cytoplasmic expression in a subset of tissues including the CNS and skeletal muscle.	http://www.proteinatlas.org/ENSG00000068903-SIRT2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 101.9	nucleoli; nucleus; cytoplasm	.	PM1, PP3
L-	19	40433165	rs150910536	G	A	222	PASS	FCGBP	Fc fragment of IgG-binding protein	exonic	NM_003890	.	synonymous SNV	FCGBP:NM_003890:exon2:c.C1104T:p.S368S	ENSG00000275395.4,ENST00000616721.4	.	19q13.2	.	.	.	.	.	rs150910536	.	.	.	.	.	7.7e-05	0.00017708	254126	0.00182541	18626	0.00116595	0.00440141	.	-0.0178	.	.	.	.	.	.	.	.	.	-0.692	-3.160	.	.	.	VDB=0.927401;SGB=-0.693147;RPB=0.720675;MQB=6.58249e-12;MQSB=0.729928;BQB=0.914622;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=182;DP4=53,23,45,19;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:140:255,0,255:76,64	G	A	0	1	Fc fragment of IgG-binding protein, 617553	.	.	.	9182547|19432394	.	.	.	.	.	.	.	Expression in goblet cells.	http://www.proteinatlas.org/ENSG00000275395-FCGBP/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	skin: 13.1	.	.	BP7, PM2
L	19	40541039	rs61737024	C	T	222	PASS	ZNF780B	.	exonic	NM_001005851	.	missense SNV	ZNF780B:NM_001005851:exon5:c.G1727A:p.R576Q	ENST00000617676.4,ENST00000221355.10,ENST00000434248.5,ENSG00000128000.15	.	19q13.2	.	.	.	.	.	rs61737024	.	.	0.0332226	0.0466	0.0371406	0.0163	0.03024988	277092	0.04377782	18868	0.04897007	0.04593640	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	1.0,T	0.034,B	0.203,B	1,N	.	0.18,N	2.26,T	6.1709	-0.524	-1.555	1.234366,11.93	.	.	VDB=0.963591;SGB=-0.693147;RPB=0.904782;MQB=1.6064e-17;MQSB=0.87964;BQB=0.340466;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=152;DP4=43,24,32,20;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:119:255,0,255:67,52	C	T	0	1	.	.	.	.	.	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Moderate to strong cytoplasmic immunoreactivity, often accompanied with membranous staining, was observed in most normal tissues. Lymphoid tissues were in general weaker stained.	http://www.proteinatlas.org/ENSG00000128000-ZNF780B/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 7.8	.	.	BS1, PM1
H	19	41117238	.	G	T	222	PASS	LTBP4	Latent transforming growth factor-beta-binding protein 4	exonic	NM_001042544,NM_001042545,NM_003573	.	unknown	UNKNOWN	ENST00000243562.13,ENST00000598055.1,ENST00000598717.5,ENST00000204005.13,ENST00000308370.11,ENST00000396819.7,ENST00000546155.5,ENSG00000090006.17,ENST00000598256.1	.	19q13.2	.	.	.	.	.	.	.	.	.	.	.	.	0.00000365	273658	0.00005328	18770	.	.	.	0.1548	Complement Clr-like EGF domain;EGF-like calcium-binding domain;EGF-like calcium-binding, conserved site;EGF-like, conserved site;Epidermal growth factor-like domain;Insulin-like growth factor binding protein, N-terminal	0.034,D	1.0,D	1.0,D	1,D	0.001039,N	4.255,H	-6.16,D	9.9877	2.459	7.294	5.920578,27.5	5.27	0.625272265586	VDB=2.27988e-05;SGB=-0.693146;RPB=0.923493;MQB=1.77813e-10;MQSB=0.735743;BQB=0.679076;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=103;DP4=16,19,14,28;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:53:.:.	0/0:51:.:.	0/0:52:.:.	0/0:33:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:77:255,0,255:35,42	G	T	0	1	Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive	.	.	.	22829427|9271198|11104663|9660815|12208849|25882708|19836010	GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS;GO_SECRETION_BY_CELL;GO_AMIDE_TRANSPORT;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_HORMONE_TRANSPORT;GO_PEPTIDE_SECRETION;GO_REGULATION_OF_GROWTH;GO_SECRETION;GO_NITROGEN_COMPOUND_TRANSPORT;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_SIGNAL_RELEASE;GO_PROTEIN_FOLDING;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS;GO_REGULATION_OF_PROTEOLYSIS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_PEPTIDE_TRANSPORT	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;GO_CYTOKINE_BINDING;GO_PROTEIN_KINASE_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_KINASE_ACTIVITY;GO_GLYCOSAMINOGLYCAN_BINDING;GO_TRANSFORMING_GROWTH_FACTOR_BETA_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_INTEGRIN_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_GROWTH_FACTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Extracellular deposits and cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000090006-LTBP4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	prostate: 164.3	.	.	PM2, PP3
H	19	41944267	rs200646614	C	T	222	PASS	ATP5SL	ATP5S-like protein	exonic	NM_001167867,NM_001167868,NM_001167869,NM_001167870,NM_001167871,NM_001320838,NM_001320839,NM_001320840,NM_001320841,NM_001320844,NM_018035	.	missense SNV	ATP5SL:NM_001167867:exon2:c.G89A:p.R30H,ATP5SL:NM_001167868:exon2:c.G89A:p.R30H,ATP5SL:NM_001167869:exon2:c.G71A:p.R24H,ATP5SL:NM_001167870:exon2:c.G71A:p.R24H,ATP5SL:NM_001167871:exon2:c.G71A:p.R24H,ATP5SL:NM_001320838:exon2:c.G71A:p.R24H,ATP5SL:NM_001320839:exon2:c.G89A:p.R30H,ATP5SL:NM_001320840:exon2:c.G89A:p.R30H,ATP5SL:NM_001320841:exon2:c.G89A:p.R30H,ATP5SL:NM_001320844:exon2:c.G71A:p.R24H,ATP5SL:NM_018035:exon2:c.G71A:p.R24H	ENST00000586786.1,ENST00000590641.6,ENST00000592922.6,ENST00000597457.5,ENST00000595425.5,ENST00000594339.1,ENST00000589970.5,ENST00000589102.1,ENST00000595407.1,ENST00000438807.7,ENST00000221943.13,ENST00000301183.15,ENST00000417807.7,ENSG00000105341.18,ENST00000589503.1	.	19q13.2	.	.	.	.	.	rs200646614	.	.	0.00166113	0.001	0.000199681	.	0.00006134	277144	0.00063593	18870	0.00038865	.	.	-0.5673	.	0.045,D	0.289,B	0.94,P	1,N	0.335920,N	0.895,L	1.86,T	3.6855	-0.126	-0.109	.	.	0.0078710137859	VDB=0.00735305;SGB=-0.693127;RPB=0.701555;MQB=3.49589e-08;MQSB=0.418343;BQB=0.698214;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=92;DP4=10,29,17,16;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:72:255,0,255:39,33	C	T	0	1	ATP5S-like protein, 617262	.	.	.	27626371	.	GO_MITOCHONDRION	.	.	.	.	.	General cytoplasmic and membranous expression, most abundant in squamous epithelia.	http://www.proteinatlas.org/ENSG00000105341-ATP5SL/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 43.3	nucleus but not nucleoli	.	PM2
H	19	42187719	rs111534806	G	A	222	PASS	CEACAM7	.	exonic	NM_001291485,NM_006890	.	missense SNV	CEACAM7:NM_001291485:exon3:c.C703T:p.R235C,CEACAM7:NM_006890:exon3:c.C703T:p.R235C	ENST00000602225.1,ENST00000006724.7,ENSG00000007306.14,ENST00000401731.5	.	19q13.2	.	.	.	.	.	rs111534806	.	.	.	.	.	7.7e-05	0.00018065	276782	.	.	.	.	.	-0.1077	Immunoglobulin subtype;Immunoglobulin-like fold	0.081,T	0.508,P	0.978,D	1,N	.	0,N	2.52,T	3.5354	-0.069	-2.389	1.693124,14.37	.	0.00264136521291	VDB=0.0131778;SGB=-0.693147;RPB=0.192073;MQB=1.16601e-35;MQSB=0.998246;BQB=0.792826;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=349;DP4=112,23,111,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/0:104:.:.	0/1:265:255,0,255:135,130	G	A	0	1	.	.	.	.	.	.	GO_ANCHORED_COMPONENT_OF_MEMBRANE	.	.	.	.	.	Expression in luminal membranes of colon and rectum	http://www.proteinatlas.org/ENSG00000007306-CEACAM7/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	appendix: 86.9	.	.	PM1, PM2
H	19	42599852	rs76824856	G	A	222	PASS	POU2F2	POU domain, class 2, transcription factor 2	splicing	NM_001207025,NM_001207026,NM_001247994,NM_002698	NM_001207025:exon10:c.806-7C>T;NM_001207026:exon10:c.806-7C>T;NM_001247994:exon10:c.758-7C>T;NM_002698:exon10:c.758-7C>T	.	.	ENST00000529952.5,ENST00000342301.8,ENST00000560804.6,ENSG00000028277.21,ENST00000560558.5,ENST00000534559.5,ENST00000529067.5,ENST00000526816.6,ENST00000389341.9,ENST00000560398.5	CpG: 69	19q13.2	.	.	.	.	.	rs76824856	.	.	0.00830565	0.0069	0.00139776	.	0.00083314	273664	0.01079098	18812	0.01107656	0.01241135	0.0001,0	-0.1522	.	.	.	.	.	.	.	.	.	0.223	0.019	.	.	.	VDB=0.0189344;SGB=-0.693147;RPB=0.653476;MQB=7.22648e-20;MQSB=0.840597;BQB=0.804727;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=180;DP4=39,37,42,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/1:145:255,0,255:76,69	G	A	0	1	POU domain, class 2, transcription factor 2, 164176	.	.	.	8943269|2901913|23960236|11135581|1676977|3399892|9115366	GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_SECRETION_BY_CELL;GO_PROTEIN_SECRETION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_LEUKOCYTE_MEDIATED_IMMUNITY;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_B_CELL_MEDIATED_IMMUNITY;GO_B_CELL_DIFFERENTIATION;GO_SECRETION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NCRNA_TRANSCRIPTION;GO_LYMPHOCYTE_ACTIVATION;GO_CELL_MATURATION;GO_LYMPHOCYTE_MEDIATED_IMMUNITY;GO_B_CELL_ACTIVATION;GO_HUMORAL_IMMUNE_RESPONSE;GO_IMMUNOGLOBULIN_PRODUCTION;GO_NCRNA_METABOLIC_PROCESS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_IMMUNOGLOBULIN_PRODUCTION_INVOLVED_IN_IMMUNOGLOBULIN_MEDIATED_IMMUNE_RESPONSE;GO_IMMUNE_RESPONSE;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_MATURE_B_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;GO_SNRNA_METABOLIC_PROCESS;GO_DEVELOPMENTAL_MATURATION;GO_LYMPHOCYTE_DIFFERENTIATION;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING	.	PID_BCR_5PATHWAY;PID_DELTA_NP63_PATHWAY	.	.	Nuclear and cytoplasmic expression in immune cells in bone marrow and secondary lymphoid tissues.	http://www.proteinatlas.org/ENSG00000028277-POU2F2/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	testis: 4.6	.	.	BS2
L	19	43709622	rs771256435	C	T	225	PASS	PSG4	Pregnancy-specific beta-1-glycoprotein-4	splicing	NM_001276495,NM_001316339,NM_002780,NM_213633	NM_001276495:exon1:c.64+3G>A;NM_001316339:exon1:c.64+3G>A;NM_002780:exon1:c.64+3G>A;NM_213633:exon1:c.64+3G>A	.	.	ENSG00000243137.7,ENST00000596199.5,ENST00000451895.1,ENST00000595949.1,ENST00000596907.5,ENST00000405312.7,ENST00000597912.1,ENST00000601041.1,ENST00000599391.1,ENST00000244295.13,ENST00000433626.6	.	19q13.31	.	.	.	Score=0.950092;Name=chr19:43762201	.	rs771256435	.	.	.	.	.	.	0.00000422	236878	.	.	.	.	0,0.002	.	.	.	.	.	.	.	.	.	.	-0.096	-0.033	.	.	.	VDB=0.0654358;SGB=-0.693147;MQSB=0.888726;MQ0F=0;MQ=33;DP=94;DP4=0,0,62,11;MinDP=5;AN=18;AC=2	GT:DP:PL:AD	0/0:127:.:.	0/0:105:.:.	0/0:33:.:.	0/0:164:.:.	0/0:109:.:.	0/0:163:.:.	0/0:5:.:.	0/0:147:.:.	1/1:73:255,220,0:0,73	C	T	1	0	Pregnancy-specific beta-1-glycoprotein-4, 176393	.	.	.	11501563|1572650|7851895|7851896|1690992|1572649|8432525|1579453	GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REPRODUCTION	.	.	.	.	.	.	Cytoplasmic expression in trophoblasts.	http://www.proteinatlas.org/ENSG00000243137-PSG4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skin: 1.8	.	.	PM2
H	19	43998863	rs142679800	G	C	222	PASS	PHLDB3	.	exonic	NM_198850	.	missense SNV	PHLDB3:NM_198850:exon9:c.C1140G:p.S380R	ENST00000292140.9,ENST00000595498.5,ENSG00000176531.10,ENST00000596141.1,ENST00000600660.1	.	19q13.31	.	.	.	.	.	rs142679800	.	.	0.0249169	0.0218	0.00439297	8.1e-05	0.00205957	273844	0.02841273	18724	0.01535173	0.01587302	.	-5.3617	.	0.094,T	0.987,D	0.998,D	1,D	.	1.04,L	0.71,T	9.2941	1.056	1.129	4.526342,24.3	3.55	.	VDB=0.0647972;SGB=-0.692976;RPB=0.206563;MQB=6.46171e-09;MQSB=0.423422;BQB=0.581452;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=85;DP4=31,5,21,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:62:255,0,255:36,26	G	C	0	1	.	.	.	.	.	.	.	GO_ENZYME_BINDING	.	.	.	.	Most of the normal tissues displayed moderate to strong cytoplasmic staining with additional membranous positivity in several cases.	http://www.proteinatlas.org/ENSG00000176531-PHLDB3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 16.2	nucleus but not nucleoli; plasma membrane; cytoplasm	.	PP3
L	19	45316554	rs575984275	G	A	222	PASS	BCAM	B-cell adhesion molecule	exonic	NM_001013257,NM_005581	.	synonymous SNV	BCAM:NM_001013257:exon5:c.G552A:p.T184T,BCAM:NM_005581:exon5:c.G552A:p.T184T	ENST00000270233.10,ENST00000589651.5,ENSG00000187244.10,ENST00000611077.4,ENST00000591520.5,ENST00000590108.1	CpG: 31	19q13.32	.	.	Score=900;Name=V$USF_01	.	.	rs575984275	.	.	0	0.001	0.000199681	.	0.00003695	243544	0.00034928	17178	.	.	.	-0.0852	.	.	.	.	.	.	.	.	.	-0.745	-0.792	1.601351,13.86	.	.	VDB=0.0106468;SGB=-0.693147;RPB=0.519969;MQB=1.19293e-22;MQSB=0.0766706;BQB=0.139109;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=226;DP4=60,27,66,14;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:167:255,0,255:87,80	G	A	0	1	[Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3)	.	.	.	7954395|1862644|14025138|9192786|2644738|6745937|835569|2907851|752556|14829286|11133776|9166867|7777537|8781446|14496427|3250330|2339521	GO_CELL_MATRIX_ADHESION;GO_CELL_SUBSTRATE_ADHESION;GO_BIOLOGICAL_ADHESION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_EXTRACELLULAR_MATRIX_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_LAMININ_BINDING	.	.	.	.	Cytoplasmic and membranous expression in several tissues	http://www.proteinatlas.org/ENSG00000187244-BCAM/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 142.7	nucleoli	.	BP7, PM2
H	19	45540748	rs745736943	C	T	222	PASS	RELB	v-rel avian reticuloendotheliosis viral oncogene homolog B	exonic	NM_006509	.	unknown	UNKNOWN	ENSG00000104856.13,ENST00000625761.2,ENST00000505236.1,ENST00000509229.1,ENST00000589972.1,ENST00000221452.12	CpG: 30	19q13.32	.	.	.	.	.	rs745736943	.	.	.	.	.	.	0.00003689	243992	0.00040807	17154	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.436	-2.292	2.313414,18.25	.	.	VDB=0.719259;SGB=-0.693147;RPB=0.990565;MQB=5.7411e-23;MQSB=0.927985;BQB=0.912677;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=229;DP4=62,24,56,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:167:255,0,255:86,81	C	T	0	1	?Immunodeficiency 53, 617585 (3), Autosomal recessive	.	.	.	8183565|7845467|10540217|1577270|26385063|18322009|7834753	GO_CIRCADIAN_RHYTHM;GO_LEUKOCYTE_ACTIVATION;GO_REGULATION_OF_INTERFERON_BETA_PRODUCTION;GO_DENDRITIC_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_ALPHA_BETA_T_CELL_DIFFERENTIATION;GO_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS;GO_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_DEFENSE_RESPONSE;GO_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_CELL_CELL_ADHESION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE_ACTIVATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION;GO_LYMPHOCYTE_ACTIVATION;GO_T_HELPER_1_TYPE_IMMUNE_RESPONSE;GO_T_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_MYELOID_LEUKOCYTE_ACTIVATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_INFLAMMATORY_RESPONSE;GO_NIK_NF_KAPPAB_SIGNALING;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_ALPHA_BETA_T_CELL_ACTIVATION;GO_IMMUNE_RESPONSE;GO_LEUKOCYTE_CELL_CELL_ADHESION;GO_RHYTHMIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_MYELOID_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_OSMOTIC_STRESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_CYTOKINE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_LYMPHOCYTE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE;GO_RESPONSE_TO_OSMOTIC_STRESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_T_CELL_DIFFERENTIATION;GO_MYELOID_DENDRITIC_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_BIOLOGICAL_ADHESION;GO_LYMPHOCYTE_DIFFERENTIATION;GO_MYELOID_DENDRITIC_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_IMMUNE_EFFECTOR_PROCESS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CORE_PROMOTER_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_CHROMATIN_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_MAPK_SIGNALING_PATHWAY	PID_IL12_2PATHWAY	.	.	Cytoplasmic and nuclear expression at variable levels in several different cell types.	http://www.proteinatlas.org/ENSG00000104856-RELB/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 18.2	nucleus but not nucleoli; cytoplasm	.	PM2
L	19	47111809	rs755348000	G	A	222	PASS	CALM3	Calmodulin-3	exonic	NM_001329921,NM_001329922,NM_001329923,NM_001329924,NM_001329925,NM_001329926,NM_005184	.	synonymous SNV	CALM3:NM_001329925:exon3:c.G141A:p.E47E,CALM3:NM_001329921:exon4:c.G141A:p.E47E,CALM3:NM_001329922:exon4:c.G249A:p.E83E,CALM3:NM_001329924:exon4:c.G141A:p.E47E,CALM3:NM_001329926:exon4:c.G141A:p.E47E,CALM3:NM_005184:exon4:c.G249A:p.E83E,CALM3:NM_001329923:exon5:c.G141A:p.E47E	ENST00000482455.5,ENST00000596362.1,ENST00000477244.5,ENST00000486500.1,ENST00000597868.5,ENST00000594523.5,ENST00000291295.13,ENST00000599839.5,ENST00000598871.5,ENST00000391918.6,ENST00000597743.5,ENST00000595072.1,ENSG00000160014.16	.	19q13.32	.	.	.	.	.	rs755348000	.	.	.	.	.	.	0.00006854	277210	0.00100689	18870	0.00252623	0.00176056	.	0.0147	.	.	.	.	.	.	.	.	.	2.586	2.392	1.544574,13.55	4.99	.	VDB=0.678107;SGB=-0.693145;RPB=0.25721;MQB=4.70688e-11;MQSB=0.494897;BQB=0.99996;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=108;DP4=11,33,17,23;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:84:255,0,255:44,40	G	A	0	1	Calmodulin-3, 114183	.	.	.	8314583|3182832|8476923|9681195	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_ION_TRANSPORT;GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_REGULATION_OF_LYASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_RESPONSE_TO_AMINE;GO_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_RESPONSE_TO_STEROID_HORMONE;GO_SECRETION_BY_CELL;GO_ENERGY_RESERVE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_MONOOXYGENASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RESPONSE_TO_CORTICOSTEROID;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_INOSITOL_PHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_RECEPTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POLYOL_METABOLIC_PROCESS;GO_CELL_CYCLE_PHASE_TRANSITION;GO_ACTIVATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_SECOND_MESSENGER_MEDIATED_SIGNALING;GO_REGULATION_OF_MUSCLE_CONTRACTION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_POSITIVE_REGULATION_OF_LYASE_ACTIVITY;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_POLYSACCHARIDE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_SEQUESTERING_OF_CALCIUM_ION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_WNT_SIGNALING_PATHWAY_CALCIUM_MODULATING_PATHWAY;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_CALCIUM_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_DNA_BINDING;GO_REGULATION_OF_CARDIAC_MUSCLE_CONTRACTION_BY_REGULATION_OF_THE_RELEASE_OF_SEQUESTERED_CALCIUM_ION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SECRETION;GO_POSITIVE_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_NITRIC_OXIDE_SYNTHASE_ACTIVITY;GO_POLYSACCHARIDE_CATABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION;GO_CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_ADENYLATE_CYCLASE_ACTIVITY;GO_GLUCAN_METABOLIC_PROCESS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_MUSCLE_CONTRACTION;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_FC_EPSILON_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_CARDIAC_MUSCLE_CONTRACTION_BY_CALCIUM_ION_SIGNALING;GO_NEGATIVE_REGULATION_OF_RECEPTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_KETONE;GO_POSITIVE_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_AMPHETAMINE;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_SUBSTANTIA_NIGRA_DEVELOPMENT;GO_MIDBRAIN_DEVELOPMENT;GO_REGULATION_OF_HEART_RATE;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_RECEPTOR_ACTIVITY;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_THREONINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_CYTOKINESIS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_ION_HOMEOSTASIS;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_RYANODINE_SENSITIVE_CALCIUM_RELEASE_CHANNEL_ACTIVITY;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_OXIDATION_REDUCTION_PROCESS;GO_POSITIVE_REGULATION_OF_PEPTIDYL_THREONINE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CELL_CYCLE_G2_M_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT_INTO_CYTOSOL;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_ALCOHOL_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_HEAD_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_RESPONSE_TO_CORTICOSTERONE;GO_REGULATION_OF_DEPHOSPHORYLATION;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_DETECTION_OF_STIMULUS;GO_REGULATION_OF_CELL_COMMUNICATION_BY_ELECTRICAL_COUPLING;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_PEPTIDYL_THREONINE_PHOSPHORYLATION;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_RHODOPSIN_MEDIATED_SIGNALING_PATHWAY;GO_MUSCLE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_RESPONSE_TO_MINERALOCORTICOID;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_EXOCYTOSIS;GO_REGULATION_OF_CARDIAC_MUSCLE_CONTRACTION;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_POSITIVE_REGULATION_OF_MONOOXYGENASE_ACTIVITY;GO_REGULATION_OF_ION_TRANSPORT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PLATELET_DEGRANULATION;GO_NEGATIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING;GO_POSITIVE_REGULATION_OF_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_BINDING;GO_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ALCOHOL;GO_POSITIVE_REGULATION_OF_DEPHOSPHORYLATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_RYANODINE_SENSITIVE_CALCIUM_RELEASE_CHANNEL_ACTIVITY;GO_POSITIVE_REGULATION_OF_NITRIC_OXIDE_SYNTHASE_ACTIVITY;GO_REGULATION_OF_CAMP_METABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATED_EXOCYTOSIS;GO_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_PHOSPHATASE_ACTIVITY;GO_REGULATION_OF_RELEASE_OF_SEQUESTERED_CALCIUM_ION_INTO_CYTOSOL_BY_SARCOPLASMIC_RETICULUM;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_RESPONSE_TO_CALCIUM_ION;GO_DETECTION_OF_CALCIUM_ION	GO_MICROTUBULE_CYTOSKELETON;GO_SITE_OF_POLARIZED_GROWTH;GO_SPINDLE_POLE;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_POTASSIUM_CHANNEL_COMPLEX;GO_CENTROSOME;GO_CONTRACTILE_FIBER;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CATION_CHANNEL_COMPLEX;GO_NEURON_PROJECTION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_SPINDLE_MICROTUBULE;GO_SUPRAMOLECULAR_FIBER;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SPINDLE;GO_CALCIUM_CHANNEL_COMPLEX;GO_MICROTUBULE_ORGANIZING_CENTER;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_KINASE_BINDING;GO_GATED_CHANNEL_ACTIVITY;GO_LIGAND_GATED_CHANNEL_ACTIVITY;GO_KINASE_REGULATOR_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_NITRIC_OXIDE_SYNTHASE_BINDING;GO_PHOSPHATASE_ACTIVATOR_ACTIVITY;GO_CALCIUM_DEPENDENT_PROTEIN_BINDING;GO_PHOSPHOLIPASE_BINDING;GO_KINASE_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVATOR_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ION_CHANNEL_BINDING;GO_INOSITOL_TRISPHOSPHATE_KINASE_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_KINASE_BINDING;GO_KINASE_ACTIVATOR_ACTIVITY;GO_TITIN_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_PROTEIN_N_TERMINUS_BINDING;GO_GLUTAMATE_RECEPTOR_BINDING;GO_G_PROTEIN_COUPLED_RECEPTOR_BINDING;GO_RECEPTOR_BINDING;GO_TRANSPORTER_ACTIVITY;GO_PHOSPHATASE_REGULATOR_ACTIVITY;GO_THIOESTERASE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_ALZHEIMERS_DISEASE;KEGG_GLIOMA	.	BIOCARTA_NO1_PATHWAY;BIOCARTA_AT1R_PATHWAY;BIOCARTA_BCR_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_CACAM_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_CALCINEURIN_PATHWAY;BIOCARTA_NDKDYNAMIN_PATHWAY;BIOCARTA_FCER1_PATHWAY;BIOCARTA_FMLP_PATHWAY;BIOCARTA_PYK2_PATHWAY;BIOCARTA_VIP_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_NOS1_PATHWAY;BIOCARTA_CCR5_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_MEF2D_PATHWAY;BIOCARTA_GPCR_PATHWAY;BIOCARTA_TCR_PATHWAY	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_TETRAHYDROBIOPTERIN_BH4_SYNTHESIS_RECYCLING_SALVAGE_AND_REGULATION;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_ENOS_ACTIVATION_AND_REGULATION;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_DARPP_32_EVENTS;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_MUSCLE_CONTRACTION;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_SMOOTH_MUSCLE_CONTRACTION;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_IONOTROPIC_ACTIVITY_OF_KAINATE_RECEPTORS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_GLUCOSE_METABOLISM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_SIGNALING_BY_FGFR	Ubiquitous cytoplasmic expression	http://www.proteinatlas.org/ENSG00000160014-CALM3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 645.7	.	.	PM2
L	19	47570906	rs377028333	A	G	222	PASS	ZC3H4	.	exonic	NM_015168	.	synonymous SNV	ZC3H4:NM_015168:exon15:c.T2619C:p.H873H	ENST00000594019.5,ENST00000601973.1,ENST00000253048.9,ENSG00000130749.9	.	19q13.32	.	.	.	.	.	rs377028333	.	.	0.00830565	0.0109	0.00239617	.	0.00075912	255558	0.00978249	18298	0.00757870	0.01148410	.	.	.	.	.	.	.	.	.	.	.	-2.398	-1.073	.	.	.	VDB=0.594452;SGB=-0.693147;RPB=0.492373;MQB=2.10717e-20;MQSB=0.389217;BQB=0.849226;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=187;DP4=44,30,33,35;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:99:.:.	0/0:51:.:.	0/0:100:.:.	0/1:142:255,0,255:74,68	A	G	0	1	.	.	.	.	.	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Predominant nuclear expression which in some tissues was combined with cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000130749-ZC3H4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 9.7	nucleus but not nucleoli; cytoplasm	.	BP7
H	19	47593449	rs191574289	G	A	222	PASS	ZC3H4	.	splicing	NM_015168	NM_015168:exon5:c.493-3C>T	.	.	ENST00000594019.5,ENST00000597069.1,ENST00000253048.9,ENSG00000130749.9	.	19q13.32	.	.	.	.	.	rs191574289	.	.	0.0481728	0.0466	0.00978435	8.1e-05	0.00344738	276732	0.04755089	18864	0.04916440	0.05373406	0.0010,0.154	-0.3519	.	.	.	.	.	.	.	.	.	0.774	1.077	.	.	.	VDB=0.00447742;SGB=-0.693146;RPB=0.981476;MQB=1.88805e-11;MQSB=0.85848;BQB=0.885904;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=268;DP4=38,65,40,59;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/1:85:255,0,255:43,42	0/0:100:.:.	0/0:51:.:.	0/1:117:255,0,255:60,57	G	A	0	2	.	.	.	.	.	.	.	GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Predominant nuclear expression which in some tissues was combined with cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000130749-ZC3H4/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 9.7	nucleus but not nucleoli; cytoplasm	.	BS1
L	19	49110394	rs149260271	C	T	222	PASS	SPACA4	Sperm acrosome-associated protein 4	exonic	NM_133498	.	synonymous SNV	SPACA4:NM_133498:exon1:c.C159T:p.V53V	ENST00000263266.3,ENST00000321762.2,ENSG00000177202.2,ENSG00000105523.3	.	19q13.33	.	.	.	.	.	rs149260271	.	.	.	.	.	7.7e-05	0.00002857	245010	0.00017426	17216	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295	-0.214	1.161910,11.55	.	.	VDB=0.135224;SGB=-0.693147;RPB=0.896857;MQB=9.17513e-32;MQSB=0.34481;BQB=0.774903;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=287;DP4=48,59,70,49;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:226:255,0,255:107,119	C	T	0	1	Sperm acrosome-associated protein 4, 609932	.	.	.	12788941	GO_BIOLOGICAL_ADHESION	GO_SPERM_PART;GO_SECRETORY_GRANULE;GO_SECRETORY_VESICLE;GO_INTRACELLULAR_VESICLE;GO_ACROSOMAL_VESICLE;GO_ANCHORED_COMPONENT_OF_MEMBRANE	.	.	.	.	.	Distinct expression of spermatozoa in testis.	http://www.proteinatlas.org/ENSG00000177202-SPACA4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	stomach: 2.9	.	.	BP7, PM2
L	19	49129479	rs745622704	G	A	222	PASS	SPHK2	Sphingosine kinase 2	exonic	NM_001204158,NM_001204159,NM_001204160,NM_020126	.	missense SNV	SPHK2:NM_001204160:exon2:c.G263A:p.R88Q,SPHK2:NM_001204158:exon3:c.G194A:p.R65Q,SPHK2:NM_001204159:exon3:c.G371A:p.R124Q,SPHK2:NM_020126:exon3:c.G371A:p.R124Q	ENST00000340932.7,ENSG00000063176.15,ENST00000245222.8,ENST00000598574.1,ENST00000601704.1,ENST00000599748.5,ENST00000599029.2,ENST00000426514.2,ENST00000601712.5,ENST00000600537.5,ENST00000598088.5,ENST00000597434.5,ENST00000599033.1	.	19q13.33	.	.	Score=817;Name=V$PAX4_01	.	Score=24;Name="2208208:GC_rich(Low_complexity)"	rs745622704	.	.	.	.	.	.	0.00001214	247126	.	.	.	.	.	-1.1328	.	0.013,D	0.457,P	0.993,D	1,D	0.004708,N	2.085,M	1.75,T	7.3507	2.113	3.251	4.534474,24.3	3.77	0.0257742869511	VDB=0.216947;SGB=-0.693147;RPB=0.914703;MQB=5.29532e-25;MQSB=0.98994;BQB=0.609292;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=239;DP4=49,41,54,40;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:184:255,0,255:90,94	G	A	0	1	Sphingosine kinase 2, 607092	.	.	.	19603543|19729656|10751414|17885683|17363629	GO_LIPID_MODIFICATION;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_SPHINGOLIPID_MEDIATED_SIGNALING_PATHWAY;GO_POLYOL_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_SPHINGOID_METABOLIC_PROCESS;GO_SPHINGOLIPID_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_DIOL_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_VASCULATURE_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_HEAD_DEVELOPMENT;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_PHOSPHORYLATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_SPHINGOLIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS;GO_REPRODUCTION;GO_PHOSPHORYLATION;GO_MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_POLYOL_BIOSYNTHETIC_PROCESS	GO_VACUOLE;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_BIOACTIVE_LIPID_RECEPTOR_ACTIVITY;GO_ENZYME_BINDING;GO_RECEPTOR_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_SPHINGOLIPID_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS	PID_IL12_2PATHWAY;PID_CERAMIDE_PATHWAY;PID_S1P_META_PATHWAY	.	REACTOME_SPHINGOLIPID_DE_NOVO_BIOSYNTHESIS;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	.	http://www.proteinatlas.org/ENSG00000063176-SPHK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 14.7	vesicles	.	PM2, PP3
L	19	49488737	rs761669741	G	A	222	PASS	GYS1	Glycogen synthase	exonic	NM_001161587,NM_002103	.	synonymous SNV	GYS1:NM_001161587:exon4:c.C612T:p.H204H,GYS1:NM_002103:exon5:c.C804T:p.H268H	ENST00000263276.6,ENSG00000104812.14,ENST00000323798.7	.	19q13.33	.	.	.	.	.	rs761669741	.	.	.	.	.	.	0.00001444	277006	0.00021198	18870	.	.	.	-0.0534	.	.	.	.	.	.	.	.	.	2.360	2.796	.	4.75	.	VDB=0.333994;SGB=-0.693144;RPB=0.0175823;MQB=1.40528e-09;MQSB=0.239295;BQB=0.304205;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=104;DP4=27,5,36,3;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/1:71:255,0,255:32,39	G	A	0	1	Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive	.	.	.	2493642|19699667|8416266|10770201|17928598|8449521|18358695|10447527|15282316|15711014|16306363|8040269|8479502	GO_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_ENERGY_RESERVE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_POLYSACCHARIDE_METABOLIC_PROCESS;GO_GLUCAN_METABOLIC_PROCESS;GO_ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_HEART_DEVELOPMENT;GO_OXIDATION_REDUCTION_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_GLUCAN_BIOSYNTHETIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_CIRCULATORY_SYSTEM_DEVELOPMENT	GO_INCLUSION_BODY	GO_CARBOHYDRATE_BINDING;GO_KINASE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_GLUCOSE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY;GO_ENZYME_BINDING;GO_GLUCOSYLTRANSFERASE_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	PID_INSULIN_GLUCOSE_PATHWAY	.	REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000104812-GYS1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skeletal muscle: 84.5	cytoplasm; cytoskeleton (microtubules)	.	PM2
L	19	49519489	rs146251380	G	A	222	PASS	LHB	Luteinizing hormone, beta polypeptide	exonic	NM_000894	.	missense SNV	LHB:NM_000894:exon3:c.C262T:p.R88W	ENST00000221421.6,ENSG00000104826.12	.	19q13.33	.	.	.	Score=0.933278;Name=chr19:49538739	.	rs146251380	.	.	0	0.001	0.000199681	.	0.00039743	276776	0.00525310	18846	0.00913686	0.01327434	.	.	Cystine-knot cytokine;Glycoprotein hormone subunit beta, cystine knot	0.006,D	0.009,B	0.057,B	0.999927,N	0.519948,N	2.53,M	-2.83,D	9.4379	1.116	1.655	3.260884,22.8	3.67	0.210042278878	VDB=0.32097;SGB=-0.69168;RPB=0.790294;MQB=1.48816e-05;MQSB=0.944602;BQB=0.857404;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=47;DP4=7,12,10,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:38:255,0,255:19,19	G	A	0	1	Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive	.	.	.	19890128|8701081|429481|22723313|6785294|11682622|7904610|7714098|10935547|11384661|12620433|12189497|9457942|17761593|15569941|11823449|8961276|14726596|1954899|1727817|9284752|11328855|8784083|9694256|10468997|10739843|8979264|1191677|4685398|12734546|6319099|6690982|10323405|15602022|19126631|10199775|10770486|1727547	GO_STEROID_BIOSYNTHETIC_PROCESS;GO_PROTEIN_MATURATION;GO_C21_STEROID_HORMONE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CELL_CELL_SIGNALING;GO_REGULATION_OF_HORMONE_LEVELS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_CELLULAR_KETONE_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_HORMONE_BIOSYNTHETIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_KETONE_BIOSYNTHETIC_PROCESS;GO_SEX_DIFFERENTIATION;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_C21_STEROID_HORMONE_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_HORMONE_PROCESSING;GO_REPRODUCTION;GO_HORMONE_METABOLIC_PROCESS;GO_PROTEOLYSIS;GO_MALE_SEX_DIFFERENTIATION;GO_PROGESTERONE_METABOLIC_PROCESS;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS	GO_GOLGI_APPARATUS_PART;GO_GOLGI_APPARATUS;GO_GOLGI_LUMEN	GO_HORMONE_ACTIVITY;GO_RECEPTOR_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GNRH_SIGNALING_PATHWAY	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_ANDROGEN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GLYCOPROTEIN_HORMONES;REACTOME_PEPTIDE_HORMONE_BIOSYNTHESIS;REACTOME_STEROID_HORMONES;REACTOME_HORMONE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	External RNA data and available literature suggests expression in pituitary gland. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000104826-LHB/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 1.2	cytoplasm	.	PM1
H	19	49878082	rs141628956	C	T	222	PASS	DKKL1	Dickkopf-like 1	exonic	NM_001197301,NM_001197302,NM_014419	.	missense SNV	DKKL1:NM_001197301:exon4:c.C433T:p.R145W,DKKL1:NM_001197302:exon5:c.C301T:p.R101W,DKKL1:NM_014419:exon5:c.C526T:p.R176W	ENST00000598682.1,ENST00000596402.1,ENST00000597873.5,ENST00000594268.1,ENST00000221498.6,ENST00000597546.1,ENSG00000104901.6,ENSG00000268686.1,ENST00000599433.1	.	19q13.33	.	.	.	.	.	rs141628956	.	.	0.0332226	0.0288	0.00599042	7.7e-05	0.00246890	274616	0.03417668	18814	0.03109211	0.03521127	.	.	.	0.001,D	0.938,D	0.999,D	1,N	0.022484,N	1.545,L	2.39,T	8.7572	1.218	0.834	6.139562,28.4	2.94	.	VDB=0.742989;SGB=-0.69311;RPB=0.40738;MQB=0.409839;MQSB=0.998223;BQB=0.239398;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=225;DP4=78,23,58,14;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/1:86:255,0,255:55,31	0/0:51:.:.	0/0:50:.:.	0/1:87:255,0,255:46,41	C	T	0	2	Dickkopf-like 1, 605418	.	.	.	10570958	GO_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS;GO_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_XENOPHAGY;GO_MACROAUTOPHAGY;GO_DEFENSE_RESPONSE;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_AUTOPHAGY;GO_DEFENSE_RESPONSE_TO_OTHER_ORGANISM;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MITOCHONDRION_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_BIOTIC_STIMULUS;GO_MACROMITOPHAGY;GO_REGULATION_OF_IMMUNE_EFFECTOR_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS_BY_HOST;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_ORGANELLE_DISASSEMBLY	GO_EXTRACELLULAR_SPACE	GO_SIGNAL_TRANSDUCER_ACTIVITY	.	.	.	.	Highly selective cytoplasmic expression in a subset of cells in seminiferous ducts.	http://www.proteinatlas.org/ENSG00000104901-DKKL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 0.8	.	.	BS1
L	19	50209255	rs200765794	C	T	222	PASS	CPT1C	Carnitine palmitoyltransferase IC	exonic	NM_001136052,NM_001199752,NM_001199753,NM_152359	.	synonymous SNV	CPT1C:NM_152359:exon10:c.C1054T:p.L352L,CPT1C:NM_001136052:exon11:c.C1021T:p.L341L,CPT1C:NM_001199752:exon11:c.C1054T:p.L352L,CPT1C:NM_001199753:exon11:c.C1054T:p.L352L	ENST00000598293.5,ENST00000596701.1,ENST00000323446.9,ENSG00000169169.14,ENST00000594431.1,ENST00000392518.8,ENST00000599023.5,ENST00000295404.9,ENST00000405931.6,ENST00000598259.5	.	19q13.33	.	.	.	.	.	rs200765794	.	.	0.00166113	0.001	0.000199681	.	0.00001625	246180	0.00023194	17246	.	.	.	0.0199	.	.	.	.	.	.	.	.	.	0.452	0.901	2.143857,17.14	2.15	.	VDB=0.755836;SGB=-0.693132;RPB=0.0950891;MQB=9.39397e-11;MQSB=0.485029;BQB=0.800527;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=98;DP4=25,15,26,8;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/1:74:255,0,255:40,34	C	T	0	1	?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant	.	.	.	23973755|19224198|12376098|21592121|25751282|16651524	GO_LIPID_MODIFICATION;GO_FATTY_ACID_CATABOLIC_PROCESS;GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_FATTY_ACID_BETA_OXIDATION;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_CARNITINE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_FATTY_ACID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_AMINO_ACID_BETAINE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS;GO_LIPID_OXIDATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_PLASMA_MEMBRANE_RECEPTOR_COMPLEX;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_AMPA_GLUTAMATE_RECEPTOR_COMPLEX;GO_IONOTROPIC_GLUTAMATE_RECEPTOR_COMPLEX;GO_ENDOPLASMIC_RETICULUM_PART;GO_CELL_JUNCTION;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_RECEPTOR_COMPLEX;GO_OUTER_MEMBRANE;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE;GO_ENDOPLASMIC_RETICULUM;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX;GO_DENDRITE	GO_PALMITOYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_O_ACYLTRANSFERASE_ACTIVITY	KEGG_FATTY_ACID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_HNF3B_PATHWAY	.	.	Strong cytoplasmic positivity, with a granular pattern or concentrated to distinctly stained dots was observed in neuronal cells of CNS, in endocrine cells of rectum and Leydig cells of testis. Remaining normal tissues were generally negative.	http://www.proteinatlas.org/ENSG00000169169-CPT1C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	gallbladder: 5.1	.	.	BS2, PP3
H	19	50365698	.	G	A	180	PASS	PNKP	Polynucleotide kinase 3' phosphatase	exonic	NM_007254	.	missense SNV	PNKP:NM_007254:exon11:c.C959T:p.P320L	ENST00000600910.5,ENSG00000039650.11,ENST00000593706.3,ENST00000631020.2,ENST00000600573.5,ENST00000629179.1,ENST00000594661.5,ENST00000596014.5,ENST00000625216.2,ENST00000322344.7,ENST00000627317.1,ENST00000593946.5,ENST00000627232.2	CpG: 103	19q13.33	.	.	Score=829;Name=V$HNF4_01	.	.	.	.	.	.	.	.	.	0.00000503	198624	.	.	0.00019433	.	.	0.4689	-phosphatase;HAD-like domain;Polynucleotide 3&apos	0.034,D	0.378,B	0.737,P	0.824482,D	0.017565,N	2.375,M	-0.04,T	12.5449	1.098	0.598	3.048580,22.4	2.68	0.821827129552	VDB=0.00118273;SGB=-0.692976;RPB=0.860099;MQB=7.69123e-09;MQSB=0.987855;BQB=0.919983;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=83;DP4=37,2,25,1;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:213,0,255:39,26	G	A	0	1	Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive	.	.	.	25728773|10446192|10446193|23224214|20118933	GO_POSITIVE_REGULATION_OF_DNA_REPLICATION;GO_NUCLEOTIDE_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_DNA_DEPENDENT_DNA_REPLICATION;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TELOMERASE_ACTIVITY;GO_REGULATION_OF_TELOMERE_MAINTENANCE;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_DNA_REPAIR;GO_POSITIVE_REGULATION_OF_TELOMERE_CAPPING;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_RESPONSE_TO_RADIATION;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE;GO_DETECTION_OF_STIMULUS;GO_DEPHOSPHORYLATION;GO_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_TELOMERE_CAPPING;GO_REGULATION_OF_DNA_REPLICATION;GO_DNA_DAMAGE_RESPONSE_DETECTION_OF_DNA_DAMAGE;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_REGULATION_OF_TELOMERASE_ACTIVITY;GO_DNA_METABOLIC_PROCESS	GO_NUCLEOLUS	GO_KINASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_DAMAGED_DNA_BINDING;GO_NUCLEASE_ACTIVITY;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_ENDONUCLEASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_NUCLEOTIDE_KINASE_ACTIVITY;GO_NUCLEOBASE_CONTAINING_COMPOUND_KINASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_DNA_PK_PATHWAY	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000039650-PNKP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 26.5	nucleus; nucleoli	.	PM2
L	19	50475285	rs566219367	C	T	222	PASS	SIGLEC16	.	exonic	NM_001348364	.	synonymous SNV	SIGLEC16:NM_001348364:exon6:c.C1230T:p.H410H	ENSG00000161643.12,ENST00000602139.5,ENST00000599858.1	.	19q13.33	.	.	.	Score=0.92725;Name=chr19:51918163	.	rs566219367	.	.	0.00166113	0.001	0.000199681	.	0.00001630	245398	0.00023205	17238	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.960	-4.842	.	.	.	VDB=6.5547e-12;SGB=-0.693147;RPB=1.95682e-12;MQB=1.6163e-28;MQSB=0.436444;BQB=0.00034788;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=313;DP4=103,54,34,47;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:126:.:.	0/0:113:.:.	0/0:106:.:.	0/0:159:.:.	0/0:150:.:.	0/0:102:.:.	0/1:238:255,0,255:157,81	C	T	0	1	.	.	.	.	.	GO_IMMUNE_SYSTEM_PROCESS;GO_DEFENSE_RESPONSE;GO_INNATE_IMMUNE_RESPONSE;GO_IMMUNE_RESPONSE;GO_BIOLOGICAL_ADHESION	.	GO_CARBOHYDRATE_BINDING	.	.	.	.	.	.	.	.	.	.	BP7, PM2
H	19	50549441	rs150885598	G	A	222	PASS	ZNF473	.	exonic	NM_001006656,NM_001308424,NM_015428	.	missense SNV	ZNF473:NM_001308424:exon4:c.G1705A:p.E569K,ZNF473:NM_001006656:exon5:c.G1741A:p.E581K,ZNF473:NM_015428:exon5:c.G1741A:p.E581K	ENSG00000269091.5,ENSG00000142528.15,ENST00000599914.5,ENST00000595661.5,ENST00000391821.6,ENST00000601364.5,ENST00000270617.7,ENST00000599410.1,ENST00000445728.7	.	19q13.33	.	.	.	.	.	rs150885598	.	.	0.0199336	0.0179	0.00359425	.	0.00104708	276960	0.01448430	18848	0.00971628	0.00705467	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.344,T	0.081,B	0.6,P	1,N	0.474870,N	0.69,N	2.28,T	5.8056	-0.135	-1.016	1.206456,11.78	.	.	VDB=0.674949;SGB=-0.693021;RPB=0.367774;MQB=1.58552e-08;MQSB=0.640017;BQB=0.993762;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=21,9,16,11;MinDP=23;AN=18;AC=1	GT:DP:PL:AD	0/0:23:.:.	0/0:40:.:.	0/0:40:.:.	0/0:54:.:.	0/0:30:.:.	0/0:33:.:.	0/0:30:.:.	0/0:42:.:.	0/1:57:255,0,255:30,27	G	A	0	1	.	.	.	.	.	GO_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION;GO_MRNA_PROCESSING;GO_RNA_PROCESSING;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_MRNA_3_END_PROCESSING;GO_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION;GO_HISTONE_MRNA_METABOLIC_PROCESS;GO_MRNA_METABOLIC_PROCESS;GO_RNA_3_END_PROCESSING	GO_CAJAL_BODY;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_SLBP_DEPENDENT_PROCESSING_OF_REPLICATION_DEPENDENT_HISTONE_PRE_MRNAS;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	Normal tissues showed weak to moderate nuclear positivity with additional cytoplasmic staining in several cases.	http://www.proteinatlas.org/ENSG00000142528-ZNF473/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 36.3	nucleus but not nucleoli	.	PM1
H	19	50881636	.	C	T	222	PASS	NR1H2	Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor)	exonic	NM_007121	.	missense SNV	NR1H2:NM_007121:exon5:c.C412T:p.R138W	ENST00000598168.5,ENST00000593926.5,ENST00000253727.9,ENSG00000131408.13,ENST00000599105.5,ENST00000593532.5,ENST00000411902.6,ENST00000597130.5,ENST00000597157.1	CpG: 20	19q13.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3708	Zinc finger, NHR/GATA-type;Zinc finger, nuclear hormone receptor-type	0.0,D	1.0,D	1.0,D	1,D	0.000055,D	3.52,H	-5.32,D	12.4069	0.647	4.265	7.407342,34	2.48	0.702307894241	VDB=0.00256514;SGB=-0.693147;RPB=0.319648;MQB=2.44555e-10;MQSB=0.559162;BQB=0.983299;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=118;DP4=27,13,27,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:99:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:54:.:.	0/1:94:255,0,255:40,54	C	T	0	1	Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor), 600380	.	.	.	15738425|18614014|17657314|21266776|9874807|18238900|19436111|7782080|11030331|11901146|10968783|7926814|7625741|12193651|19520913	GO_REGULATION_OF_LIPID_STORAGE;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CHOLESTEROL_HOMEOSTASIS;GO_CHEMICAL_HOMEOSTASIS;GO_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_STEROID_HORMONE;GO_STEROL_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_LIPID;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_ENDOCYTOSIS;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_STEROL_TRANSPORT;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DIGESTIVE_SYSTEM_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_LIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_LIPID_HOMEOSTASIS;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_LIPOPROTEIN_LIPASE_ACTIVITY;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_LIPASE_ACTIVITY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_BIOSYNTHETIC_PROCESS;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_DIGESTIVE_SYSTEM_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_ENDOCYTOSIS;GO_REGULATION_OF_STEROL_TRANSPORT;GO_NEGATIVE_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_LIPID_TRANSPORT;GO_NEGATIVE_REGULATION_OF_LIPID_STORAGE;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_STEROID_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CHOLESTEROL_STORAGE;GO_POSITIVE_REGULATION_OF_LIPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_INTERFERON_GAMMA;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_LIPID_STORAGE;GO_REGULATION_OF_TRIGLYCERIDE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_HORMONE_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_DIRECT_LIGAND_REGULATED_SEQUENCE_SPECIFIC_DNA_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_STEROID_HORMONE_RECEPTOR_ACTIVITY;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ATPASE_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_RETINOIC_ACID_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_RETINOID_X_RECEPTOR_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_RECEPTOR_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RECEPTOR_BINDING	.	PID_RXR_VDR_PATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	Bronchus and esophagus showed moderate nuclear and cytoplasmic staining. Purkinje cells, testis and squamous epithelia in cervix exhibited moderate nuclear positivity while a subset of trophoblasts displayed strong staining. Skeletal muscle showed strong cytoplasmic immunoreactivity. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000131408-NR1H2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 67.0	nucleus but not nucleoli	.	PM1, PM2, PP3
L	19	51051937	rs372480830	C	T	222	PASS	LRRC4B	.	exonic	NM_001080457,NM_001348568	.	synonymous SNV	LRRC4B:NM_001080457:exon2:c.G159A:p.P53P,LRRC4B:NM_001348568:exon2:c.G159A:p.P53P	ENST00000389201.7,ENST00000599957.5,ENST00000600381.1,ENSG00000131409.12	CpG: 29	19q13.33	.	.	Score=797;Name=V$MYOGNF1_01	.	.	rs372480830	.	.	0.0166113	0.0119	0.00399361	0.0002	0.00258618	174002	0.01423572	12574	0.00972006	0.01515152	.	-0.8588	.	.	.	.	.	.	.	.	.	-0.351	-1.776	2.117062,16.97	.	.	VDB=0.520165;SGB=-0.693054;RPB=0.355974;MQB=5.61593e-09;MQSB=0.995388;BQB=0.893676;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=160;DP4=29,32,33,31;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:51:.:.	0/1:60:255,0,255:32,28	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:65:255,0,255:29,36	C	T	0	2	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_SYNAPSE_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_STAT_CASCADE;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RESPONSE_TO_CYTOKINE;GO_REGULATION_OF_STAT_CASCADE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_NEURON_PART;GO_AXON;GO_CELL_JUNCTION;GO_SYNAPSE;GO_PRESYNAPTIC_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_PRESYNAPSE;GO_MEMBRANE_REGION;GO_SYNAPSE_PART;GO_SYNAPTIC_MEMBRANE	GO_KINASE_INHIBITOR_ACTIVITY;GO_KINASE_REGULATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_RECEPTOR_BINDING	.	.	.	.	Most of the normal tissues displayed moderate to strong dot-like cytoplasmic positivity. Additional nuclear staining was observed in stomach, thyroid and urinary bladder. Additional membranous and nuclear immunoreactivity was observed in respiratory epithelia and fallopian tube. Spleen, cells in CNS except granular layer of cerebellum and soft tissues were negative.	http://www.proteinatlas.org/ENSG00000131409-LRRC4B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	placenta: 4.5	.	.	BP7
L	19	51273886	rs192426883	G	C	222	PASS	GPR32	G protein-coupled receptor-32	exonic	NM_001506	.	missense SNV	GPR32:NM_001506:exon1:c.G29C:p.G10A	ENSG00000142511.4,ENST00000270590.4	.	19q13.33	.	.	.	Score=0.903532;Name=chr19:51252600	.	rs192426883	.	.	0.00664452	0.004	0.000798722	.	0.00073761	271146	0.00977268	18828	0.01049359	0.00968310	.	.	.	1.0,T	0.005,B	0.013,B	1,N	.	0,N	1.58,T	3.4797	-1.035	0.184	.	.	0.0030007827527	VDB=0.00835132;SGB=-0.693143;RPB=0.356908;MQB=1.40697e-10;MQSB=0.922119;BQB=0.987264;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=85;DP4=30,5,34,4;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:73:255,0,255:35,38	G	C	0	1	G protein-coupled receptor-32, 603195	.	.	.	9653656	GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	.	.	.	.	Membranous expression in trophoblastic cells of placenta.	http://www.proteinatlas.org/ENSG00000142511-GPR32/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4
L	19	51919840	rs71358835	G	A	222	PASS	LOC100129083	.	exonic	NM_001256795	.	missense SNV	LOC100129083:NM_001256795:exon2:c.G172A:p.A58T	ENST00000526996.1,ENST00000525998.5,ENST00000441969.7,ENST00000436984.6,ENSG00000255441.1,ENST00000439889.6,ENST00000532688.1,ENST00000357375.4,ENST00000353836.9,ENST00000529627.1,ENST00000339313.9,ENST00000442846.7,ENSG00000142512.14	.	19q13.41	.	.	.	Score=0.937474;Name=chr19:50461562	.	rs71358835	.	.	0.0697674	0.0714	0.0241613	.	0.00972811	251128	0.04810038	17214	0.04632153	0.04715302	.	-1.0253	.	.	.	.	.	.	.	.	.	-1.174	-0.733	.	.	.	VDB=0.00390682;SGB=-0.693146;RPB=0.00977415;MQB=1.08482e-18;MQSB=0.324412;BQB=0.999504;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=352;DP4=97,60,68,41;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:111:.:.	0/0:100:.:.	0/0:106:.:.	0/0:102:.:.	0/1:124:255,0,255:81,43	0/0:100:.:.	0/0:101:.:.	0/1:142:255,0,255:76,66	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BS1
L	19	52207528	rs2305373	G	A	222	PASS	SPACA6	.	exonic	NM_001316972,NM_001316994	.	missense SNV	SPACA6:NM_001316972:exon8:c.G736A:p.G246S,SPACA6:NM_001316994:exon8:c.G613A:p.G205S	ENSG00000182310.13,ENST00000573151.5,ENST00000572160.5,ENST00000576975.1,ENST00000572565.5,ENST00000576093.5,ENST00000572703.2,ENST00000637797.1,ENST00000573266.5	CpG: 57	19q13.41	.	.	Score=831;Name=V$PAX4_01	.	Score=21;Name="2216212:GC_rich(Low_complexity)"	rs2305373	.	.	0.0149502	0.0139	0.0299521	.	0.02103591	30852	0.01171393	1622	0.01496308	0.01587302	.	.	.	.	.	.	.	.	.	.	.	0.451	1.262	1.294509,12.24	.	.	VDB=0.576259;SGB=-0.693146;RPB=0.0452801;MQB=7.7637e-13;MQSB=0.121235;BQB=0.946635;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=116;DP4=21,26,27,16;MinDP=44;AN=18;AC=1	GT:DP:PL:AD	0/0:44:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:90:255,0,255:47,43	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
H	19	53668470	rs189318604	T	C	222	PASS	ZNF665	.	exonic	NM_024733	.	missense SNV	ZNF665:NM_024733:exon4:c.A1273G:p.T425A	ENST00000396424.4,ENST00000600412.1,ENSG00000197497.10	.	19q13.42	.	.	.	.	.	rs189318604	.	.	0.0116279	0.0109	0.00259585	.	0.00107867	277194	0.01489294	18868	0.00796735	0.01144366	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.011,D	0.99,D	0.994,D	0.999869,N	.	0.67,N	1.73,T	6.1766	-0.410	-0.098	2.153786,17.21	.	.	VDB=0.567856;SGB=-0.693147;RPB=0.567994;MQB=1.28067e-08;MQSB=0.816796;BQB=0.999568;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=349;DP4=88,60,70,41;MinDP=86;AN=18;AC=2	GT:DP:PL:AD	0/0:86:.:.	0/0:100:.:.	0/1:126:255,0,255:69,57	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:133:255,0,255:79,54	T	C	0	2	.	.	.	.	.	.	.	.	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic and/or nuclear positivity. Ciliated cells in respiratory epithelia were strongly stained. Renal tubules gastric parietal cells showed strong cytoplasmic staining. Hepatocytes showed additional positivity in nuclear membranes. Endometrial stromal and hematopoietic cells were negative.	http://www.proteinatlas.org/ENSG00000197497-ZNF665/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 3.2	nuclear membrane	.	PM1
H	19	55179120	rs147216101	C	T	105	PASS	LILRB4	Leukocyte immunoglobulin-like receptor, subfamily B, member 4	exonic	NM_001278426,NM_001278427,NM_001278428,NM_001278429	.	missense SNV	LILRB4:NM_001278429:exon10:c.C1166T:p.T389M,LILRB4:NM_001278426:exon11:c.C1076T:p.T359M,LILRB4:NM_001278427:exon11:c.C1073T:p.T358M,LILRB4:NM_001278428:exon11:c.C1076T:p.T359M	ENST00000391733.7,ENST00000391736.5,ENSG00000186818.12,ENST00000434286.1,ENST00000430952.6,ENST00000391734.7,ENST00000494796.5	.	19q13.42	.	.	.	.	.	rs147216101	.	.	0.0199336	0.0169	0.00399361	.	0.00138210	276390	0.01792913	18852	0.02098717	0.02464789	.	-1.6643	.	0.002,D	0.521,P	0.997,D	1,N	.	1.88,L	6.82,T	4.3278	-0.399	-1.415	1.725036,14.55	.	.	VDB=0.774083;SGB=-0.662043;RPB=0.834768;MQB=0.817727;MQSB=0.75;BQB=0.339883;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=30;DP4=11,2,9,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:29:.:.	0/0:11:.:.	0/0:10:.:.	0/0:31:.:.	0/1:22:138,0,245:13,9	C	T	0	1	Leukocyte immunoglobulin-like receptor, subfamily B, member 4, 604821	.	.	.	9278324|9548455|9151699|11875462|15094202|18802077|9079806	GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_PRI_MIRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RECEPTOR_ACTIVITY;GO_ANTIGEN_BINDING	.	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Expression in immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000186818-LILRB4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 34.9	.	.	.
L	19	55179143	rs200441190	A	C	222	PASS	LILRB4	Leukocyte immunoglobulin-like receptor, subfamily B, member 4	exonic	NM_001278426,NM_001278427,NM_001278428,NM_001278429	.	synonymous SNV	LILRB4:NM_001278429:exon10:c.A1189C:p.R397R,LILRB4:NM_001278426:exon11:c.A1099C:p.R367R,LILRB4:NM_001278427:exon11:c.A1096C:p.R366R,LILRB4:NM_001278428:exon11:c.A1099C:p.R367R	ENST00000391733.7,ENST00000391736.5,ENSG00000186818.12,ENST00000434286.1,ENST00000430952.6,ENST00000391734.7,ENST00000494796.5	.	19q13.42	.	.	.	.	.	rs200441190	.	.	0.00830565	0.0069	0.00139776	.	0.00087564	276368	0.01177344	18856	0.00641275	0.00616197	.	1.5115	.	.	.	.	.	.	.	.	.	-1.136	-0.789	.	.	.	VDB=0.760674;SGB=-0.676189;RPB=0.297565;MQB=0.000104464;MQSB=1;BQB=0.430955;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=71;DP4=23,2,22,3;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:182,0,234:26:15,11	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:32:.	0/0:.:11:.	0/0:.:10:.	0/0:.:31:.	0/1:255,0,182:24:10,14	A	C	0	2	Leukocyte immunoglobulin-like receptor, subfamily B, member 4, 604821	.	.	.	9278324|9548455|9151699|11875462|15094202|18802077|9079806	GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_NEGATIVE_REGULATION_OF_HEMOPOIESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_ADAPTIVE_IMMUNE_RESPONSE;GO_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_PRI_MIRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RECEPTOR_ACTIVITY;GO_ANTIGEN_BINDING	.	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Expression in immune cells in several tissues.	http://www.proteinatlas.org/ENSG00000186818-LILRB4/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 34.9	.	.	BP7
M	19	56047540	rs56353414	G	A	222	PASS	SBK2	.	exonic	NM_001101401	.	missense SNV	SBK2:NM_001101401:exon2:c.C122T:p.A41V	ENST00000344158.4,ENSG00000187550.8,ENST00000413299.5	CpG: 20	19q13.42	.	.	.	.	.	rs56353414	.	.	0.0265781	0.0208	0.00439297	.	0.00133120	269682	0.01830209	18140	0.01515740	0.01681416	.	-0.5382	.	0.529,T	0.005,B	0.127,B	0.999617,N	0.860880,N	1.04,L	-0.49,T	3.3034	0.051	0.497	.	.	.	VDB=0.0742516;SGB=-0.693147;RPB=0.562112;MQB=1.09968e-08;MQSB=0.983527;BQB=0.995193;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=328;DP4=59,36,79,48;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/1:104:255,0,255:46,58	0/0:50:.:.	0/0:99:.:.	0/0:101:.:.	0/1:118:255,0,255:49,69	G	A	0	2	.	.	.	.	.	GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in cardiac myocytes and subset of renal tubules.	http://www.proteinatlas.org/ENSG00000187550-SBK2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	testis: 0.3	.	.	BP4
H	19	56599437	rs781971796	CTCGTCGTCG	C	225	PASS	ZNF787	.	exonic	NM_001002836	.	nonframeshift deletion	ZNF787:NM_001002836:exon3:c.1095_1100del:p.365_367del	ENSG00000142409.5,ENST00000610935.1,ENST00000610935.1_0	CpG: 184	19q13.43	.	.	.	.	.	rs781971796	.	.	.	.	.	.	0.00335439	137432	0.05023364	7704	0.03568643	0.04884547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.0131353;SGB=-0.686358;MQSB=0.726149;MQ0F=0;MQ=47;ICB=1;HOB=0.5;DP=125;DP4=10,1,76,25;IDV=24;IMF=1;AN=18;AC=1	GT:PL:DP:AD	0/0:255,.,.:14:0,.	0/0:255,.,.:22:0,.	0/0:255,.,.:10:0,.	0/0:255,.,.:9:0,.	0/0:210,.,.:7:0,.	0/0:134,.,.:7:3,.	0/0:255,.,.:21:0,.	0/0:193,.,.:10:3,.	0/2:177,.,.,0,.,150:12:5,.,7	CTCGTCGTCG	CTCGTCG,C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000142409-ZNF787/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 12.5	nucleus; nucleoli; mitochondria	.	BS1, PM4
L	19	58102391	rs746618949	A	G	222	PASS	ZIK1	.	exonic	NM_001010879,NM_001321145,NM_001321146,NM_001321147	.	synonymous SNV	ZIK1:NM_001321147:exon2:c.A903G:p.E301E,ZIK1:NM_001321145:exon3:c.A1173G:p.E391E,ZIK1:NM_001321146:exon3:c.A1047G:p.E349E,ZIK1:NM_001010879:exon4:c.A1212G:p.E404E	ENSG00000171649.11,ENST00000597850.1,ENST00000536878.6,ENST00000599456.1,ENST00000307468.4	.	19q13.43	.	.	.	.	.	rs746618949	.	.	.	.	.	.	0.00000812	246220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.529	-0.001	.	2.34	.	VDB=0.847318;SGB=-0.693147;RPB=0.94518;MQB=1.09782e-15;MQSB=0.936106;BQB=0.529385;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=158;DP4=27,31,41,23;MinDP=52;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:52:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:122:255,0,255:58,64	A	G	0	1	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	Intestinal tract, respiratory epithelium, bile ducts, renal tubules, urothelium, genital tract showed strong cytoplasmic staining with additional membranous positivity in glands. Other normal tissues are weakly positive or negative.	http://www.proteinatlas.org/ENSG00000171649-ZIK1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	tonsil: 5.2	cytoskeleton (intermediate filaments)	.	PM2
L	19	58265389	.	T	C	222	PASS	ZNF776	.	exonic	NM_173632	.	synonymous SNV	ZNF776:NM_173632:exon3:c.T891C:p.C297C	ENST00000451849.1,ENST00000317178.9,ENSG00000152443.12	.	19q13.43	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.035	0.290	.	.	.	VDB=0.169709;SGB=-0.693147;RPB=0.997173;MQB=1.47872e-26;MQSB=0.660022;BQB=0.161153;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=234;DP4=78,20,56,23;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:177:255,0,255:98,79	T	C	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Normal tissues generally showed moderate cytoplasmic staining. The duodenum and seminiferus duct cells displayed strong cytoplasmic staining. Trophoblasts exhibited strong cytoplasmic and membranous positivity.	http://www.proteinatlas.org/ENSG00000152443-ZNF776/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 7.9	nucleus but not nucleoli	.	BP7, PM2
H	19	58596077	rs201438629	G	C	222	PASS	ZSCAN18	.	exonic	NM_001145542,NM_001145543,NM_001145544,NM_023926	.	missense SNV	ZSCAN18:NM_001145544:exon6:c.C1100G:p.P367R,ZSCAN18:NM_001145542:exon7:c.C1676G:p.P559R,ZSCAN18:NM_001145543:exon7:c.C1508G:p.P503R,ZSCAN18:NM_023926:exon7:c.C1508G:p.P503R	ENST00000433686.6,ENSG00000176293.19,ENST00000600404.1,ENST00000515535.1,ENST00000240727.10,ENSG00000121413.12,ENST00000596372.1,ENST00000421612.6,ENST00000601144.5,ENST00000598497.1	CpG: 97	19q13.43	.	.	.	.	.	rs201438629	.	.	0.0149502	0.0109	0.00219649	.	0.00176693	166390	0.01926978	14790	0.01457443	0.01681416	.	.	.	0.0,D	0.899,P	0.997,D	1,N	0.057993,N	1.32,L	4.25,T	6.7364	0.231	0.994	1.930722,15.78	.	.	VDB=0.015871;SGB=-0.693147;RPB=0.0319671;MQB=2.66748e-11;MQSB=0.798746;BQB=0.753397;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=99;DP4=26,7,37,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/1:80:255,0,255:33,47	G	C	0	1	.	.	.	.	.	GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000121413-ZSCAN18/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 37.3	nucleus but not nucleoli	.	.
H	19	58601570	rs149069414	G	A	222	PASS	ZSCAN18	.	exonic	NM_001145542,NM_001145543,NM_023926	.	missense SNV	ZSCAN18:NM_001145542:exon2:c.C233T:p.T78M,ZSCAN18:NM_001145543:exon2:c.C65T:p.T22M,ZSCAN18:NM_023926:exon2:c.C65T:p.T22M	ENST00000594191.5,ENST00000595721.1,ENST00000600897.5,ENST00000600404.1,ENST00000240727.10,ENST00000600318.1,ENSG00000121413.12,ENST00000421612.6,ENST00000601144.5,ENST00000598497.1,ENST00000600845.1	.	19q13.43	.	.	.	.	.	rs149069414	.	.	0.013289	0.0099	0.00199681	0.0003	0.00123898	276034	0.01670379	18858	0.00971628	0.01496479	.	-0.5601	Retrovirus capsid, C-terminal;Transcription regulator SCAN	0.152,T	0.055,B	0.681,P	1,N	.	0.145,N	4.63,T	3.7999	-0.224	-1.088	.	.	.	VDB=0.139655;SGB=-0.693147;RPB=0.899128;MQB=1.84e-13;MQSB=0.618412;BQB=0.807022;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=142;DP4=36,16,39,17;MinDP=69;AN=18;AC=1	GT:DP:PL:AD	0/0:81:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:88:.:.	0/0:100:.:.	0/0:69:.:.	0/0:83:.:.	0/1:108:255,0,255:52,56	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000121413-ZSCAN18/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 37.3	nucleus but not nucleoli	.	PM1
L	19	58879380	rs377691079	C	T	222	PASS	ZNF837	.	exonic	NM_138466	.	synonymous SNV	ZNF837:NM_138466:exon3:c.G1320A:p.A440A	ENST00000427624.2,ENST00000597582.1,ENSG00000152475.6	CpG: 227	19q13.43	.	.	.	.	.	rs377691079	.	.	0.00830565	0.0089	0.00199681	.	0.00043610	160514	0.00564726	11510	0.00621842	0.00440141	.	.	.	.	.	.	.	.	.	.	.	0.043	-2.249	1.781259,14.88	.	.	VDB=0.605025;SGB=-0.693097;RPB=0.777245;MQB=7.14468e-06;MQSB=0.71945;BQB=0.847773;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=74;DP4=18,7,23,7;MinDP=37;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:40:.:.	0/0:37:.:.	0/1:55:255,0,255:25,30	C	T	0	1	.	.	.	.	.	.	.	GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Most of the normal tissues displayed weak to moderate cytoplasmic and/or nuclear positivity. Strong staining was observed in seminiferous ducts, cardiac and skeletal myocytes. Pneumocytes, bile ducts, exocrine pancreas, prostate, glial cells and lymphoid tissues were generally negative.	http://www.proteinatlas.org/ENSG00000152475-ZNF837/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	spleen: 1.0	nucleoli	.	BP7
H	19	58945570	rs768169206	C	T	222	PASS	ZNF132	Zinc finger protein-132	exonic	NM_003433	.	missense SNV	ZNF132:NM_003433:exon3:c.G1241A:p.R414Q	ENST00000254166.3,ENSG00000131849.11,ENST00000639285.1,ENST00000599148.1	.	19q13.43	.	.	.	.	.	rs768169206	.	.	.	.	.	.	0.00001624	246230	0.00011596	17248	0.00038865	.	.	.	Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger, C2H2;Zinc finger, C2H2-like	0.321,T	0.014,B	0.122,B	1,N	.	0.005,N	2.21,T	6.0765	0.157	-1.379	1.148704,11.48	.	0.00189445298324	VDB=0.0660245;SGB=-0.693147;RPB=0.82481;MQB=1.54871e-18;MQSB=0.980205;BQB=0.99992;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=154;DP4=31,27,33,32;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:123:255,0,255:58,65	C	T	0	1	Zinc finger protein-132, 604074	.	.	.	8268908|7557990	.	.	GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	A majority of normal cells showed moderate to strong nuclear and nuclear membrane staining as well as weaker cytoplasmic and membranous positivity. Lymphoid cells, hepatocytes, myocytes and stromal cells were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000131849-ZNF132/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	thyroid gland: 4.0	vesicles; cytoskeleton (intermediate filaments)	.	PM1, PM2
L	20	826140	rs141475072	C	A	222	PASS	FAM110A	Family with sequence similarity 110, member A	exonic	NM_001042353,NM_001289145,NM_001289146,NM_001289147,NM_031424,NM_207121	.	synonymous SNV	FAM110A:NM_031424:exon1:c.C693A:p.I231I,FAM110A:NM_001042353:exon2:c.C693A:p.I231I,FAM110A:NM_001289146:exon2:c.C693A:p.I231I,FAM110A:NM_001289147:exon2:c.C693A:p.I231I,FAM110A:NM_207121:exon2:c.C693A:p.I231I,FAM110A:NM_001289145:exon3:c.C693A:p.I231I	ENST00000246100.3,ENST00000381941.7,ENST00000381939.1,ENSG00000125898.12,ENST00000304189.6,ENST00000505691.2,ENST00000541082.2	CpG: 79	20p13	.	.	Score=770;Name=V$AHRARNT_02	.	.	rs141475072	.	.	0.0116279	0.0099	0.00219649	0.0002	0.00113930	272096	0.01344430	18744	0.01418578	0.02028219	.	.	.	.	.	.	.	.	.	.	.	-0.339	-0.830	2.057951,16.58	.	.	VDB=0.371537;SGB=-0.693147;RPB=0.345242;MQB=1.89527e-17;MQSB=0.986219;BQB=0.356484;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=163;DP4=49,13,40,14;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:116:255,0,255:62,54	C	A	0	1	Family with sequence similarity 110, member A, 611393	.	.	.	17499476	.	GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	.	.	.	.	.	Goblet cells of the intestine exhibited strong cytoplasmic and luminal membranous positivity while Leydig cells of testis, adrenal gland and subsets of cells in red pulp and hematopoietic cells exhibited strong cytoplasmic immunoreactivity. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000125898-FAM110A/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 17.7	.	.	BP7
H	20	3652298	rs41453444	A	T	222	PASS	ADAM33	A disintegrin and metalloproteinase domain 33	exonic	NM_001282447,NM_025220,NM_153202	.	missense SNV	ADAM33:NM_001282447:exon16:c.T1835A:p.L612H,ADAM33:NM_025220:exon16:c.T1835A:p.L612H,ADAM33:NM_153202:exon16:c.T1835A:p.L612H	ENST00000379861.8,ENST00000356518.6,ENST00000619289.4,ENSG00000149451.17,ENST00000466620.5,ENST00000617732.1,ENST00000350009.6	.	20p13	.	.	.	.	.	rs41453444	.	.	0.0315615	0.0288	0.00579073	.	0.00157062	217748	0.02199413	14322	0.01340847	0.00796460	.	0.3484	ADAM, cysteine-rich	0.0,D	0.974,D	1.0,D	1,N	.	0.455,N	4.71,T	3.793	0.082	1.648	3.161057,22.6	.	.	VDB=0.636851;SGB=-0.693147;RPB=0.906641;MQB=8.60242e-28;MQSB=0.78352;BQB=0.763257;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=263;DP4=70,28,73,30;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/1:201:255,0,255:98,103	A	T	0	1	A disintegrin and metalloproteinase domain 33, 607114	.	.	.	12768445|16773130|17061022|12239266|12110844|11814695	GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity with additional membranous staining in several cases. Gall bladder was strongly stained. Lung, squamous epithelial cells, cells of CNS, islets of Langerhans and cervix, uterine were mostly negative.	http://www.proteinatlas.org/ENSG00000149451-ADAM33/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	endometrium: 50.8	.	.	PM1
L	20	3677237	rs752033059	G	A	222	PASS	SIGLEC1	Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin)	exonic	NM_023068	.	synonymous SNV	SIGLEC1:NM_023068:exon10:c.C2679T:p.V893V	ENST00000344754.5,ENSG00000088827.12	.	20p13	.	.	.	.	.	rs752033059	.	.	.	.	.	.	0.00001241	241764	0.00017409	17232	.	.	.	0.0175	.	.	.	.	.	.	.	.	.	-0.206	0.020	0.916241,10.17	.	.	VDB=0.333786;SGB=-0.693139;RPB=0.743634;MQB=6.10996e-08;MQSB=0.766569;BQB=0.799062;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=87;DP4=29,5,33,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:70:255,0,255:34,36	G	A	0	1	Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin), 600751	.	.	.	10722703|11133773|17934446|8530048|16449664|26429886|11238599	GO_SINGLE_ORGANISM_CELL_ADHESION;GO_CELL_MATRIX_ADHESION;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELL_SUBSTRATE_ADHESION;GO_DEFENSE_RESPONSE;GO_CELL_CELL_ADHESION;GO_INFLAMMATORY_RESPONSE;GO_ENDOCYTOSIS;GO_BIOLOGICAL_ADHESION	.	GO_CARBOHYDRATE_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	Membranous expression in macrophages in several tissues.	http://www.proteinatlas.org/ENSG00000088827-SIGLEC1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	placenta: 13.8	.	.	BP7, PM2
H	20	4770330	.	G	A	222	PASS	RASSF2	.	exonic	NM_014737,NM_170774	.	missense SNV	RASSF2:NM_170774:exon7:c.C551T:p.T184I,RASSF2:NM_014737:exon8:c.C551T:p.T184I	ENST00000478553.1,ENST00000379400.7,ENSG00000101265.15,ENST00000379376.2	.	20p13	.	.	Score=692;Name=V$BRACH_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7262	Ras-association	0.073,T	1.0,D	1.0,D	1,D	0.000000,D	2.655,M	2.24,T	17.1313	2.622	9.600	5.969275,27.7	5.04	0.0286808629905	VDB=0.0394096;SGB=-0.693143;RPB=0.995839;MQB=8.40971e-07;MQSB=0.663285;BQB=0.289994;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=78;DP4=8,17,17,21;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:63:255,0,255:25,38	G	A	0	1	.	.	.	.	.	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION;GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_EPIDERMAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_HEMOPOIESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_BONE_REMODELING;GO_ERBB_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_PROTEIN_STABILIZATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_REGULATION_OF_NIK_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_PROTEIN_STABILITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_TISSUE_REMODELING;GO_OSSIFICATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_JNK_CASCADE;GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_SERINE_PHOSPHORYLATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_OSSIFICATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Normal tissues displayed moderate to strong cytoplasmic positivity. Additional membranous staining was observed in glandular tissues, renal tubules and urothelium.	http://www.proteinatlas.org/ENSG00000101265-RASSF2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 76.4	nucleus but not nucleoli; cytoplasm	.	PM1, PM2, PP3
M	20	17475569	rs150798461	T	C	222	PASS	BFSP1	Beaded filament structural protein-1 (filensin)	exonic	NM_001161705,NM_001195,NM_001278606,NM_001278607,NM_001278608	.	missense SNV	BFSP1:NM_001161705:exon8:c.A773G:p.N258S,BFSP1:NM_001195:exon8:c.A1148G:p.N383S,BFSP1:NM_001278607:exon8:c.A815G:p.N272S,BFSP1:NM_001278606:exon9:c.A731G:p.N244S,BFSP1:NM_001278608:exon10:c.A731G:p.N244S	ENST00000377873.7,ENSG00000125864.13,ENST00000536626.7,ENST00000377868.6	.	20p12.1	.	.	.	.	.	rs150798461	.	.	0.0365449	0.0317	0.00798722	0.0003	0.00230982	277078	0.02846089	18868	0.01807229	0.01848592	.	.	.	0.095,T	0.001,B	0.0,B	1,N	0.007794,N	-0.14,N	-2.2,D	9.0618	-0.252	1.446	.	.	.	VDB=0.836898;SGB=-0.693079;RPB=0.997872;MQB=7.88189e-09;MQSB=0.921041;BQB=0.969178;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=100;DP4=24,22,18,11;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:96:.:.	0/0:51:.:.	0/0:50:.:.	0/1:75:255,0,255:46,29	T	C	0	1	Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant	.	.	.	7720401|9628810|17225135|9787085|24379646|28450710	GO_LENS_FIBER_CELL_DIFFERENTIATION;GO_EPITHELIUM_DEVELOPMENT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_CELL_MATURATION;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_DEVELOPMENTAL_MATURATION;GO_TISSUE_DEVELOPMENT;GO_LENS_FIBER_CELL_DEVELOPMENT;GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MITOCHONDRION;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_STRUCTURAL_CONSTITUENT_OF_EYE_LENS;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	External data suggests expression in lens. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000125864-BFSP1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 3.7	plasma membrane; cytoplasm	.	BP4
L	20	17489594	rs140834233	C	T	222	PASS	BFSP1	Beaded filament structural protein-1 (filensin)	exonic	NM_001161705,NM_001195,NM_001278606,NM_001278607,NM_001278608	.	synonymous SNV	BFSP1:NM_001161705:exon5:c.G300A:p.L100L,BFSP1:NM_001195:exon5:c.G675A:p.L225L,BFSP1:NM_001278607:exon5:c.G342A:p.L114L,BFSP1:NM_001278606:exon6:c.G258A:p.L86L,BFSP1:NM_001278608:exon7:c.G258A:p.L86L	ENST00000377873.7,ENST00000492424.1,ENSG00000125864.13,ENST00000536626.7,ENST00000377868.6	.	20p12.1	.	.	Score=836;Name=V$AP4_01	.	.	rs140834233	.	.	0.0215947	0.0258	0.00559105	0.0002	0.00211592	262770	0.02208657	18020	0.02895453	0.03521127	.	-6.8476	.	.	.	.	.	.	.	.	.	2.674	2.527	1.643469,14.09	4.4	.	VDB=0.3494;SGB=-0.693147;RPB=0.925028;MQB=1.73545e-09;MQSB=0.825167;BQB=0.629568;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=169;DP4=45,17,53,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:52:.:.	0/0:30:.:.	0/0:51:.:.	0/1:124:255,0,255:62,62	C	T	0	1	Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant	.	.	.	7720401|9628810|17225135|9787085|24379646|28450710	GO_LENS_FIBER_CELL_DIFFERENTIATION;GO_EPITHELIUM_DEVELOPMENT;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_CELL_MATURATION;GO_EYE_DEVELOPMENT;GO_SENSORY_ORGAN_DEVELOPMENT;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_DEVELOPMENTAL_MATURATION;GO_TISSUE_DEVELOPMENT;GO_LENS_FIBER_CELL_DEVELOPMENT;GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE	GO_CYTOPLASMIC_REGION;GO_ACTIN_CYTOSKELETON;GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_MITOCHONDRION;GO_SUPRAMOLECULAR_FIBER;GO_CELL_CORTEX;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON	GO_STRUCTURAL_CONSTITUENT_OF_EYE_LENS;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	External data suggests expression in lens. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000125864-BFSP1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 3.7	plasma membrane; cytoplasm	.	.
L	20	20007546	rs117699410	A	G	222	PASS	NAA20	.	exonic	NM_016100,NM_181527,NM_181528	.	synonymous SNV	NAA20:NM_016100:exon4:c.A288G:p.L96L,NAA20:NM_181527:exon4:c.A252G:p.L84L,NAA20:NM_181528:exon4:c.A288G:p.L96L	ENST00000463154.5,ENST00000310450.8,ENST00000334982.8,ENST00000484480.5,ENSG00000173418.11,ENST00000480550.1,ENST00000398602.2	.	20p11.23	.	.	.	.	.	rs117699410	.	.	0.0166113	0.0198	0.00499201	.	0.00235551	277222	0.01839093	18868	0.02429071	0.02112676	.	0.6885	.	.	.	.	.	.	.	.	.	0.891	0.829	.	3.05	.	VDB=0.0951024;SGB=-0.692717;RPB=0.95912;MQB=1.01348e-07;MQSB=0.997776;BQB=0.752986;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=134;DP4=36,12,36,15;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/0:48:.:.	0/0:30:.:.	0/1:48:255,0,255:25,23	0/1:51:255,0,255:23,28	A	G	0	2	.	.	.	.	.	GO_N_TERMINAL_PROTEIN_AMINO_ACID_ACETYLATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PROTEIN_ACETYLATION;GO_PROTEIN_ACYLATION;GO_PEPTIDYL_METHIONINE_MODIFICATION;GO_N_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION	GO_TRANSFERASE_COMPLEX;GO_N_TERMINAL_PROTEIN_ACETYLTRANSFERASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_ACETYLTRANSFERASE_COMPLEX	GO_ACETYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_PEPTIDE_N_ACETYLTRANSFERASE_ACTIVITY;GO_N_ACYLTRANSFERASE_ACTIVITY;GO_N_ACETYLTRANSFERASE_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000173418-NAA20/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 62.8	cytoplasm	.	.
H	20	30072136	rs199955279	G	A	222	PASS	REM1	RRAD- and GEM-like GTPase 1	exonic	NM_014012	.	missense SNV	REM1:NM_014012:exon5:c.G800A:p.R267H	ENSG00000088320.3,ENST00000201979.2	CpG: 42	20q11.21	.	.	Score=797;Name=V$PAX5_02	.	.	rs199955279	.	.	0.00830565	0.005	0.000998403	.	0.00029832	187716	0.00360400	13596	0.00582977	0.00792254	.	.	.	0.001,D	0.869,P	0.999,D	0.999561,D	0.000002,D	1.59,L	-0.31,T	17.5014	2.585	4.473	6.907402,33	5.02	.	VDB=0.217922;SGB=-0.693145;RPB=0.827023;MQB=4.19278e-13;MQSB=0.889476;BQB=0.977003;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=98;DP4=10,35,11,29;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:85:255,0,255:45,40	G	A	0	1	RRAD- and GEM-like GTPase 1, 610388	.	.	.	10831614	GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;GO_PROTEIN_LOCALIZATION	.	GO_CALMODULIN_BINDING;GO_GUANYL_NUCLEOTIDE_BINDING;GO_RIBONUCLEOTIDE_BINDING	.	.	.	.	Most of the normal tissues displayed moderate cytoplasmic positivity. Strong staining was observed in renal glomeruli, urothelium, fallopian tubes and germinal center cells in tonsil. Pneumocytes, hepatocytes, cells in CNS and soft tissues were generally negative.	http://www.proteinatlas.org/ENSG00000088320-REM1/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	fallopian tube: 6.1	.	.	BS2, PP3
L	20	30437635	.	C	A	222	PASS	DUSP15	Dual-specificity phosphatase 15	exonic	NM_001320479	.	synonymous SNV	DUSP15:NM_001320479:exon8:c.G534T:p.V178V	ENSG00000149599.15,ENST00000278979.7	CpG: 44	20q11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	0.649	2.836	1.048516,10.93	2.5	.	VDB=0.096235;SGB=-0.693147;RPB=0.80086;MQB=1.41396e-13;MQSB=0.995283;BQB=0.99995;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=137;DP4=37,12,40,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:102:255,0,255:49,53	C	A	0	1	Dual-specificity phosphatase 15, 616776	.	.	.	15138252|11780052	GO_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_JNK_CASCADE;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_DEPHOSPHORYLATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_DEPHOSPHORYLATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_PROTEIN_TYROSINE_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY	.	.	.	.	Cytoplasmic expression in testis and kidney. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000149599-DUSP15/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	thyroid gland: 2.9	.	.	PM2
L	20	31812206	rs112731808	A	G	207	PASS	BPIFA3	.	exonic	NM_178466	.	missense SNV	BPIFA3:NM_178466:exon3:c.A324G:p.I108M	ENSG00000131059.11,ENST00000375454.7,ENST00000471233.1,ENST00000490499.5,ENST00000375452.3	.	20q11.21	.	.	Score=838;Name=V$HAND1E47_01	.	.	rs112731808	.	.	0.0315615	0.0308	0.0197684	0.0154	0.00739920	276922	0.03143221	18866	0.03905946	0.03521127	.	-2.6295	Bactericidal permeability-increasing protein, alpha/beta domain;Lipid-binding serum glycoprotein, N-terminal	1.0,T	0.001,B	0.0,B	0.996421,D	0.017055,N	-1.83,N	3.52,T	7.0156	0.804	1.446	.	3.41	.	VDB=0.0167654;SGB=-0.686358;RPB=0.0566624;MQB=1.64615e-06;MQSB=0.998477;BQB=0.593903;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=51;DP4=15,11,9,5;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/1:40:240,0,255:26,14	A	G	0	1	.	.	.	.	.	.	.	GO_LIPID_BINDING	.	.	.	.	Selective expression in sperms.	http://www.proteinatlas.org/ENSG00000131059-BPIFA3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BS1, PM1
L	20	31814277	rs74640466	C	T	222	PASS	BPIFA3	.	exonic	NM_001042439,NM_178466	.	missense SNV	BPIFA3:NM_001042439:exon4:c.C494T:p.P165L,BPIFA3:NM_178466:exon5:c.C602T:p.P201L	ENSG00000131059.11,ENST00000375454.7,ENST00000471233.1,ENST00000490499.5,ENST00000375452.3	.	20q11.21	.	.	.	.	.	rs74640466	.	.	0.0282392	0.0298	0.0165735	0.0102	0.00531663	274422	0.03167589	18784	0.03983677	0.03521127	.	0.2787	Bactericidal permeability-increasing protein, alpha/beta domain;Lipid-binding serum glycoprotein, N-terminal	0.001,D	0.999,D	1.0,D	0.99804,D	0.001065,N	1.935,L	3.66,T	11.4341	2.421	2.957	5.332634,25.8	3.78	.	VDB=0.0985666;SGB=-0.692562;RPB=0.760829;MQB=1.28445e-07;MQSB=0.937724;BQB=0.961107;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=73;DP4=19,13,12,10;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:33:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:34:.:.	0/1:54:255,0,255:32,22	C	T	0	1	.	.	.	.	.	.	.	GO_LIPID_BINDING	.	.	.	.	Selective expression in sperms.	http://www.proteinatlas.org/ENSG00000131059-BPIFA3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BS1, PM1, PP3
M	20	32274037	rs574523664	A	T	80	PASS	E2F1	E2F transcription factor-1	exonic	NM_005225	.	missense SNV	E2F1:NM_005225:exon1:c.T34A:p.C12S	ENST00000343380.5,ENSG00000101412.12	CpG: 94	20q11.22	.	.	Score=776;Name=V$AHRARNT_02	.	.	rs574523664	.	.	0.00498339	0.003	0.000599042	.	0.00152230	26276	0.02236025	1610	0.00820954	0.00543478	.	.	.	0.407,T	0.017,B	0.039,B	0.999959,N	0.432154,U	0,N	3.24,T	3.5705	-0.034	0.807	.	.	0.0822813130108	VDB=0.172317;SGB=-0.556411;RPB=0.803868;MQB=0.0401934;MQSB=0.803868;BQB=0.562708;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=19;DP4=5,2,2,2;MinDP=5;AN=12;AC=1	GT:DP:PL:AD	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	0/0:5:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	0/1:11:113,0,220:7,4	A	T	0	1	E2F transcription factor-1, 189971	.	.	.	20016601|20016602|12860379|15124020|12110166|8653790|12149244|20671708|8446173|23222641|16481464|1638634|15146237|11034215|1406933|1638635|8246996|11511364|17707233|11034214|15075294|18794899|8964493|1411535|11257102|15944709|8618861|20040599|9774967|10619024|16835303|8139568|9765200|9774968|18594513|8653779|11719808|8653789|10199402|7784053	GO_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_REGULATION_OF_RNA_STABILITY;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_RNA_STABILIZATION;GO_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_CELL_CYCLE_PHASE_TRANSITION;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_MITOCHONDRIAL_TRANSPORT;GO_REGULATION_OF_PROTEIN_INSERTION_INTO_MITOCHONDRIAL_MEMBRANE_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_DNA_BINDING;GO_RESPONSE_TO_XENOBIOTIC_STIMULUS;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_MITOCHONDRIAL_MEMBRANE_ORGANIZATION;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_G1_DNA_DAMAGE_CHECKPOINT;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_DNA_BINDING;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_CELL_CYCLE;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_RESPONSE_TO_LIPID;GO_NEGATIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_FATTY_ACID;GO_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_HEAD_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_FATTY_ACID;GO_CELL_CYCLE;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_MITOCHONDRION_ORGANIZATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_GAMETE_GENERATION;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DNA_INTEGRITY_CHECKPOINT;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELL_CYCLE_CHECKPOINT;GO_REPRODUCTION;GO_REGULATION_OF_MEMBRANE_PERMEABILITY;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_BINDING;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_TRANSCRIPTION_INVOLVED_IN_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CHROMOSOME;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_MITOCHONDRION;GO_NUCLEAR_TRANSCRIPTION_FACTOR_COMPLEX	GO_CORE_PROMOTER_BINDING;GO_KINASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	KEGG_CELL_CYCLE;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA;KEGG_BLADDER_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_E2F_PATHWAY;PID_NFAT_TFPATHWAY;PID_TELOMERASE_PATHWAY;PID_IL2_PI3K_PATHWAY;PID_P53_DOWNSTREAM_PATHWAY;PID_P75_NTR_PATHWAY;PID_RB_1PATHWAY;PID_HES_HEY_PATHWAY	BIOCARTA_G1_PATHWAY;BIOCARTA_CELLCYCLE_PATHWAY;BIOCARTA_SKP2E2F_PATHWAY;BIOCARTA_IL2RB_PATHWAY;BIOCARTA_RACCYCD_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_P53_PATHWAY;BIOCARTA_P27_PATHWAY;BIOCARTA_ARF_PATHWAY	REACTOME_G0_AND_EARLY_G1;REACTOME_CELL_CYCLE;REACTOME_ASSOCIATION_OF_LICENSING_FACTORS_WITH_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_CDC6_ASSOCIATION_WITH_THE_ORC_ORIGIN_COMPLEX;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_MITOTIC_G2_G2_M_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_SIGNALING_BY_NOTCH;REACTOME_INHIBITION_OF_REPLICATION_INITIATION_OF_DAMAGED_DNA_BY_RB1_E2F1;REACTOME_DNA_REPLICATION;REACTOME_E2F_MEDIATED_REGULATION_OF_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_G1_S_SPECIFIC_TRANSCRIPTION;REACTOME_ACTIVATION_OF_BH3_ONLY_PROTEINS;REACTOME_INTRINSIC_PATHWAY_FOR_APOPTOSIS	General nuclear expression.	http://www.proteinatlas.org/ENSG00000101412-E2F1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 7.9	nucleus but not nucleoli; centrosome	.	BS2
H	20	33874346	rs149859726	C	G	222	PASS	FAM83C	.	exonic	NM_178468	.	missense SNV	FAM83C:NM_178468:exon4:c.G2236C:p.E746Q	ENST00000374408.3,ENSG00000125998.7	.	20q11.22	.	.	.	.	.	rs149859726	.	.	0.0481728	0.0377	0.00758786	.	0.00212165	272430	0.02959584	18854	0.03230829	0.04189435	.	.	.	0.0,D	0.994,D	0.999,D	0.888707,D	0.130484,N	1.87,L	2.07,T	13.6262	1.321	4.410	3.103382,22.5	4.23	.	VDB=0.23852;SGB=-0.693141;RPB=0.646573;MQB=3.72927e-10;MQSB=0.450793;BQB=0.960357;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=106;DP4=39,5,33,4;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:101:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:81:255,0,255:44,37	C	G	0	1	.	.	.	.	.	.	.	GO_KINASE_BINDING;GO_ENZYME_BINDING	.	.	.	.	RNA data suggests expression in a selected group of tissues, most abundant skin. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000125998-FAM83C/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	tonsil: 1.9	.	.	BS1, PP3
H	20	42196309	rs769566731	C	T	222	PASS	SGK2	Serum/glucocorticoid-regulated kinase 2	exonic	NM_001199264,NM_016276,NM_170693	.	stopgain	SGK2:NM_016276:exon3:c.C271T:p.Q91X,SGK2:NM_001199264:exon4:c.C91T:p.Q31X,SGK2:NM_170693:exon4:c.C91T:p.Q31X	ENST00000373100.5,ENST00000373092.7,ENST00000373077.5,ENST00000617358.1,ENST00000423407.7,ENST00000412111.5,ENST00000341458.8,ENST00000496343.5,ENSG00000101049.14,ENST00000426287.2,ENSG00000277611.1,ENST00000621802.1	.	20q13.12	.	.	.	.	.	rs769566731	.	.	.	.	.	.	0.00004331	277104	0.00063593	18870	0.00058298	0.00176056	.	-17.5797	.	.	.	.	1,A	0.000233,D	.	.	4.4122	-0.024	1.615	7.943891,35	.	.	VDB=0.0203375;SGB=-0.693141;RPB=0.999931;MQB=1.57474e-08;MQSB=0.393022;BQB=0.43942;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=99;DP4=23,10,19,18;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:70:255,0,255:33,37	C	T	0	1	Serum/glucocorticoid-regulated kinase 2, 607589	.	.	.	10548550	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_PEPTIDYL_SERINE_MODIFICATION;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT;GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_SODIUM_ION_TRANSPORT;GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_CELL_GROWTH;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_SODIUM_ION_HOMEOSTASIS;GO_SODIUM_ION_HOMEOSTASIS;GO_REGULATION_OF_CELL_DEATH;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_ION_HOMEOSTASIS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_PHOSPHORYLATION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_CELL_PROLIFERATION	.	GO_PROTEIN_KINASE_ACTIVITY;GO_CHANNEL_REGULATOR_ACTIVITY;GO_KINASE_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RIBONUCLEOTIDE_BINDING;GO_POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_SODIUM_CHANNEL_REGULATOR_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_CHLORIDE_CHANNEL_REGULATOR_ACTIVITY;GO_CALCIUM_CHANNEL_REGULATOR_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000101049-SGK2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 22.1	.	.	PM2
H	20	44003785	rs2231623	G	A	222	PASS	TP53TG5	TP53 target gene 5	exonic	NM_014477	.	missense SNV	TP53TG5:NM_014477:exon4:c.C662T:p.P221L	ENSG00000254806.5,ENST00000452133.1,ENSG00000124251.10,ENSG00000204070.9,ENST00000475242.5,ENST00000372726.4,ENST00000458187.5,ENST00000426004.5,ENST00000419593.5	.	20q13.12	.	.	.	.	.	rs2231623	.	.	0.0365449	0.0367	0.00738818	7.7e-05	0.00297718	277108	0.03614586	18868	0.02682737	0.02024648	.	-0.1879	.	0.0,D	1.0,D	1.0,D	1,D	0.000001,D	2.015,M	1.15,T	17.197	2.840	5.146	6.025419,27.9	5.99	.	VDB=0.0238934;SGB=-0.693147;RPB=0.974635;MQB=3.87678e-20;MQSB=0.656699;BQB=0.78514;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=372;DP4=126,28,110,29;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/1:147:255,0,255:75,72	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:146:255,0,255:79,67	G	A	0	2	TP53 target gene 5, 617316	.	.	.	10719363	GO_NEGATIVE_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_GROWTH;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_GROWTH	.	.	.	.	.	.	Expression in a subset of cells in seminiferous ducts.	http://www.proteinatlas.org/ENSG00000124251-TP53TG5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	cerebral cortex: 0.6	.	.	BS1, PP3
M	20	44313483	rs145459231	T	C	222	PASS	WFDC10B	.	exonic	NM_172006,NM_172131	.	missense SNV	WFDC10B:NM_172131:exon3:c.A256G:p.M86V,WFDC10B:NM_172006:exon4:c.A208G:p.M70V	ENST00000330523.9,ENSG00000182931.9,ENST00000335769.2	.	20q13.12	.	.	Score=871;Name=V$HNF3B_01	.	.	rs145459231	.	.	0.0332226	0.0298	0.0061901	0.0004	0.00172918	277010	0.02257791	18868	0.01690634	0.01672535	.	.	Whey acidic protein-type  4-disulphide core	0.144,T	0.015,B	0.058,B	1,N	.	.	2.09,T	2.0867	-1.033	-0.845	.	.	.	VDB=0.0101079;SGB=-0.690438;RPB=0.318902;MQB=0.047011;MQSB=0.938065;BQB=0.800961;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=59;DP4=20,5,11,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:49:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:42:255,0,255:25,17	T	C	0	1	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	.	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000182931-WFDC10B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 0.4	.	.	BP4, PM1
H	20	44526744	.	T	C	222	PASS	CTSA	Cathepsin A (protective protein for beta-galactosidase)	exonic	NM_000308,NM_001127695,NM_001167594	.	missense SNV	CTSA:NM_001167594:exon13:c.T1358C:p.I453T,CTSA:NM_000308:exon14:c.T1409C:p.I470T,CTSA:NM_001127695:exon14:c.T1355C:p.I452T	ENST00000354880.9,ENST00000372484.7,ENST00000191018.9,ENST00000606000.1,ENSG00000064601.16,ENST00000484855.2,ENST00000372459.6,ENST00000606788.5	.	20q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8687	Alpha/Beta hydrolase fold	0.002,D	0.992,D	0.991,D	0.999999,D	0.002717,N	3.745,H	-2.18,D	15.6403	2.106	7.674	6.275214,29.0	5.52	0.423428812789	VDB=0.383833;SGB=-0.693147;RPB=0.83492;MQB=6.36317e-16;MQSB=0.987935;BQB=0.871344;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=130;DP4=30,21,29,26;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:106:255,0,255:51,55	T	C	0	1	Galactosialidosis, 256540 (3), Autosomal recessive	.	.	.	3149149|12505983|3136930|1907282|2244901|8725271|1387645|3081902|9603439|8094595|18391110|8514852|3921454|3142815|2148053|10944848|2071143|7959780|8968752|1756715	GO_REGULATION_OF_AUTOPHAGY;GO_CELLULAR_CATABOLIC_PROCESS;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_PROTEIN_CATABOLIC_PROCESS;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_AUTOPHAGY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_SPHINGOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_GLYCOSPHINGOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_STABILITY;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_PROTEIN_LOCALIZATION;GO_LIPOSACCHARIDE_METABOLIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	GO_LYSOSOMAL_LUMEN;GO_VACUOLE;GO_LUMENAL_SIDE_OF_MEMBRANE;GO_VACUOLAR_LUMEN;GO_VACUOLAR_PART;GO_SIDE_OF_MEMBRANE;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_VACUOLAR_MEMBRANE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_TYPE_EXOPEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_CARBOXYPEPTIDASE_ACTIVITY;GO_SERINE_TYPE_CARBOXYPEPTIDASE_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_LYSOSOME;KEGG_RENIN_ANGIOTENSIN_SYSTEM	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	Ubiquitous granular cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000064601-CTSA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 148.5	vesicles	.	PM1, PM2, PP3
L-	20	44637624	rs1805088	C	T	222	PASS	MMP9	Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase)	exonic	NM_004994	.	missense SNV	MMP9:NM_004994:exon1:c.C59T:p.A20V	ENSG00000100985.7,ENST00000372330.3	.	20q13.12	.	.	Score=858;Name=V$MZF1_02	.	.	rs1805088	Likely benign;Metaphyseal_anadysplasia;RCV000378591.1;.;.	.	0.0265781	0.0317	0.0327476	0.0168	0.03843288	276430	0.03061983	18844	0.02798290	0.03350970	.	.	.	0.217,T	0.1,B	0.355,B	0.695133,N	0.706287,N	1.665,L	2.18,T	7.7898	0.640	4.135	.	2.59	.	VDB=0.0635615;SGB=-0.693147;RPB=0.208196;MQB=2.32916e-17;MQSB=0.786638;BQB=0.51222;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=185;DP4=55,8,57,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/0:50:.:.	0/0:100:.:.	0/1:129:255,0,255:63,66	C	T	0	1	Metaphyseal anadysplasia 2, 613073 (3)	.	.	.	20093460|18077379|24648384|17641224|1851724|11081634|10587514|1334098|18677407|12183632|15146242|12062105|18455130|1653238|10458779|18264108|10988146|12189240|8555503|19615667|12953271|8978762|12952836|11708786|16835221|16631427|9577095|1932376|11849317|21199898|11238675|10485917|7762981|16979597|15173025|16982845|10946906|12107265|11023497|20007864|9590175|12960961|12431981|10652271|10598806|10199873	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_BINDING;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_IMMUNE_SYSTEM_PROCESS;GO_FORMATION_OF_PRIMARY_GERM_LAYER;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_CELL_DEATH;GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_RECEPTOR_BINDING;GO_LEUKOCYTE_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_LEUKOCYTE_MIGRATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORTER_ACTIVITY;GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_ENDODERMAL_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_EPHRIN_RECEPTOR_SIGNALING_PATHWAY;GO_GASTRULATION;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_LOCOMOTION;GO_ENDODERM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_EMBRYONIC_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY;GO_OSSIFICATION;GO_MULTI_MULTICELLULAR_ORGANISM_PROCESS;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_EXTRACELLULAR_MATRIX_DISASSEMBLY;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_MACROPHAGE_DIFFERENTIATION;GO_REGULATION_OF_CELL_DEATH;GO_ENDODERM_FORMATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_TRANSPORT;GO_NEGATIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY;GO_REPRODUCTION;GO_REGULATION_OF_ION_TRANSPORT;GO_REGULATION_OF_BINDING;GO_CELLULAR_COMPONENT_DISASSEMBLY;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_CATION_CHANNEL_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_CATION_TRANSMEMBRANE_TRANSPORT;GO_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_EMBRYO_IMPLANTATION;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY	GO_EXTRACELLULAR_MATRIX;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_SPACE	GO_PEPTIDASE_ACTIVITY;GO_SERINE_HYDROLASE_ACTIVITY;GO_COLLAGEN_BINDING;GO_METALLOENDOPEPTIDASE_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_ENDOPEPTIDASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIV_PATHWAY;PID_CXCR4_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AP1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_BETA_CATENIN_NUC_PATHWAY;PID_FGF_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	Selective nuclear and cytoplasmic expression in a subset of hematopoietic cells, spleen and peripheral leukocytes.	http://www.proteinatlas.org/ENSG00000100985-MMP9/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	appendix: 48.4	cytoplasm	.	BS1, BS2, BP4, BP6, PP2
L	20	44664491	rs3848724	C	A	222	PASS	SLC12A5	Solute carrier family 12, (potassium-chloride transporter) member 5	exonic	NM_001134771,NM_020708	.	synonymous SNV	SLC12A5:NM_001134771:exon4:c.C424A:p.R142R,SLC12A5:NM_020708:exon4:c.C355A:p.R119R	ENST00000616933.4,ENST00000454036.6,ENST00000616202.4,ENST00000625683.2,ENST00000629054.2,ENSG00000124140.13,ENST00000608944.5,ENST00000539566.3,ENST00000616201.4,ENST00000622711.4,ENST00000243964.6,ENST00000626937.2,ENST00000627290.2,ENST00000372315.4	.	20q13.12	.	.	Score=806;Name=V$MYCMAX_03	.	.	rs3848724	.	.	0.0249169	0.0298	0.0321486	0.0181	0.03893835	277002	0.02889101	18864	0.02467936	0.03086420	.	-1.4761	.	.	.	.	.	.	.	.	.	1.147	1.472	2.417331,18.93	2.5	.	VDB=0.110735;SGB=-0.693147;RPB=0.974296;MQB=3.24742e-19;MQSB=0.621828;BQB=0.989336;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=191;DP4=62,17,53,17;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:149:255,0,255:79,70	C	A	0	1	{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive	.	.	.	20190766|10574461|11395011|24928908|27535533|8663311|24668262|9930699|11701957|26333769|16410524	GO_POTASSIUM_ION_TRANSPORT;GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_COGNITION;GO_SINGLE_ORGANISM_BEHAVIOR;GO_CHEMICAL_HOMEOSTASIS;GO_METAL_ION_TRANSPORT;GO_DENDRITIC_SPINE_DEVELOPMENT;GO_CELL_CELL_SIGNALING;GO_ANION_TRANSMEMBRANE_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_INORGANIC_ANION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_CATION_TRANSPORT;GO_ANION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CHLORIDE_TRANSPORT;GO_LEARNING;GO_CELLULAR_ANION_HOMEOSTASIS;GO_ANION_HOMEOSTASIS;GO_MULTICELLULAR_ORGANISM_GROWTH;GO_NEUROGENESIS;GO_GROWTH;GO_SYSTEM_PROCESS;GO_SYNAPTIC_SIGNALING;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_TEMPERATURE_STIMULUS;GO_MONOVALENT_INORGANIC_ANION_HOMEOSTASIS;GO_RESPONSE_TO_DRUG;GO_ION_HOMEOSTASIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CELL_DEVELOPMENT;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_BEHAVIOR;GO_DEVELOPMENTAL_GROWTH	GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_DENDRITIC_SHAFT;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_CATION_SYMPORTER_ACTIVITY;GO_INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_KINASE_BINDING;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	Selective cytoplasmic expression in CNS.	http://www.proteinatlas.org/ENSG00000124140-SLC12A5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	adrenal gland: 0.7	.	.	BS1, BS2, PP3
L	20	49232593	rs778033390	A	T	222	PASS	RIPOR3	.	exonic	NM_001290268,NM_080829	.	synonymous SNV	RIPOR3:NM_001290268:exon4:c.T294A:p.A98A,RIPOR3:NM_080829:exon4:c.T282A:p.A94A	ENST00000462493.1,ENSG00000042062.11,ENST00000327979.6,ENST00000045083.6	.	20q13.13	.	.	.	.	.	rs778033390	.	.	.	.	.	.	0.00001653	241980	0.00023397	17096	0.00019433	.	.	-0.2433	.	.	.	.	.	.	.	.	.	-0.468	-3.012	.	.	.	VDB=0.0186258;SGB=-0.692067;RPB=0.356323;MQB=7.13673e-07;MQSB=0.999889;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=52;DP4=19,4,15,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:255,0,255:23,20	A	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	BP7, PM2
L	20	50241869	rs140366000	G	A	222	PASS	ATP9A	.	exonic	NM_006045	.	synonymous SNV	ATP9A:NM_006045:exon18:c.C1878T:p.H626H	ENST00000311637.9,ENSG00000054793.13,ENST00000338821.5	.	20q13.2	.	.	.	.	.	rs140366000	.	.	0	.	0.00139776	0.0005	0.00024554	276938	.	.	.	0.00176056	.	-0.1832	.	.	.	.	.	.	.	.	.	-0.405	-1.188	.	.	.	VDB=0.268952;SGB=-0.693147;RPB=0.47802;MQB=3.47666e-20;MQSB=0.582743;BQB=0.82248;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=191;DP4=46,34,36,30;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:146:255,0,255:80,66	G	A	0	1	.	.	.	.	.	GO_ION_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_ANION_TRANSPORT;GO_LIPID_TRANSLOCATION;GO_ORGANIC_ANION_TRANSPORT;GO_RETROGRADE_VESICLE_MEDIATED_TRANSPORT_GOLGI_TO_ER;GO_PHOSPHOLIPID_TRANSPORT;GO_MEMBRANE_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_LIPID_LOCALIZATION;GO_ENDOCYTOSIS	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_EARLY_ENDOSOME_MEMBRANE;GO_VACUOLAR_PART;GO_ENDOSOMAL_PART;GO_GOLGI_APPARATUS;GO_RECYCLING_ENDOSOME;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_ORGANELLE_SUBCOMPARTMENT;GO_VACUOLAR_MEMBRANE	GO_LIPID_TRANSPORTER_ACTIVITY;GO_MAGNESIUM_ION_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PHOSPHOLIPID_TRANSLOCATING_ATPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOLIPID_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	Cytoplasmic expression in several cells, most abundant in pancreatic islets and Leydig cells in testis.	http://www.proteinatlas.org/ENSG00000054793-ATP9A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 79.6	nucleus; nucleoli	.	BP7, PM2
L	20	51802199	rs187353552	G	A	160	PASS	TSHZ2	Teashirt zinc finger homeobox 2	exonic	NM_001193421	.	synonymous SNV	TSHZ2:NM_001193421:exon1:c.G15A:p.A5A	ENST00000603338.2,ENSG00000182463.15,ENST00000329613.7,ENST00000371497.9	.	20q13.2	.	.	.	.	.	rs187353552	.	.	0.00166113	0.001	0.000199681	.	0.00046674	160688	0.00451076	11528	0.00485814	0.00704225	.	.	.	.	.	.	.	.	.	.	.	-1.888	-0.401	.	.	.	VDB=0.793023;SGB=-0.686358;RPB=0.43185;MQB=4.06516e-05;MQSB=0.987638;BQB=0.843636;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=60;DP4=26,3,11,3;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:43:193,0,255:29,14	G	A	0	1	Teashirt zinc finger homeobox 2, 614118	.	.	.	19745106	.	.	.	.	.	.	.	Most normal tissues displayed moderate nuclear positivity often combined with weaker cytoplasmic staining. Neuronal cells of cortex, adrenocortical cells and decidual cells were strongly positive. Hepatocytes and bile duct were negative.	http://www.proteinatlas.org/ENSG00000182463-TSHZ2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	ovary: 9.8	golgi apparatus; nucleus but not nucleoli	.	BP7
H	20	55093178	rs185266382	C	T	222	PASS	RTFDC1	.	exonic	NM_001283035,NM_001283036,NM_016407	.	missense SNV	RTFDC1:NM_001283036:exon9:c.C775T:p.P259S,RTFDC1:NM_016407:exon9:c.C778T:p.P260S,RTFDC1:NM_001283035:exon10:c.C868T:p.P290S	ENST00000477485.1,ENST00000477573.1,ENST00000357348.9,ENST00000243913.8,ENSG00000022277.12,ENST00000481560.1,ENSG00000124091.9,ENSG00000124103.8,ENST00000395881.7,ENST00000023939.8	.	20q13.31	.	.	.	.	.	rs185266382	.	.	0.00332226	0.003	0.000599042	.	0.00049211	276360	0.00674527	18828	0.00446949	0.00352113	.	.	Replication termination factor 2, RING-finger	0.35,T	0.005,B	0.001,B	0.999995,D	0.029467,N	0.55,N	1.67,T	9.2537	-0.448	-0.299	.	.	0.002317622409	VDB=0.0346817;SGB=-0.693136;RPB=0.522979;MQB=7.33547e-11;MQSB=0.651323;BQB=0.778685;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=101;DP4=27,9,23,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:71:255,0,255:36,35	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000022277-RTFDC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 68.5	nucleus; nucleoli	.	PM1
M	20	58342372	rs201007890	G	A	222	PASS	PHACTR3	Phosphatase and actin regulator 3	exonic	NM_001199505,NM_001199506,NM_001281507,NM_080672,NM_183244	.	missense SNV	PHACTR3:NM_001199505:exon5:c.G664A:p.V222M,PHACTR3:NM_001199506:exon5:c.G550A:p.V184M,PHACTR3:NM_001281507:exon5:c.G550A:p.V184M,PHACTR3:NM_080672:exon5:c.G673A:p.V225M,PHACTR3:NM_183244:exon5:c.G550A:p.V184M	ENSG00000087495.16,ENST00000355648.8,ENST00000361300.4,ENST00000395636.6,ENST00000359926.7,ENST00000541461.5,ENST00000371015.5	.	20q13.32	.	.	Score=754;Name=V$TAXCREB_02	.	.	rs201007890	.	.	0.00166113	0.001	0.000199681	.	0.00015526	276956	0.00217299	18868	0.00077730	.	.	-0.7908	.	0.184,T	0.003,B	0.005,B	1,N	0.000976,N	0.41,N	1.91,T	2.624	-1.440	-0.953	.	.	0.00373550839265	VDB=1.07193e-07;SGB=-0.693147;RPB=0.97155;MQB=7.3473e-12;MQSB=0.570327;BQB=0.765139;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=137;DP4=17,25,28,27;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:97:255,0,255:42,55	G	A	0	1	Phosphatase and actin regulator 3, 608725	.	.	.	15107502|12925532	GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY	GO_NUCLEAR_MATRIX;GO_NUCLEAR_PERIPHERY	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PHOSPHATASE_INHIBITOR_ACTIVITY;GO_PROTEIN_PHOSPHATASE_BINDING;GO_ACTIN_BINDING;GO_PHOSPHATASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_PROTEIN_PHOSPHATASE_1_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_PHOSPHATASE_REGULATOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000087495-PHACTR3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 4.5	nucleus but not nucleoli	.	BP4, PM2
L*	20	60893570	rs148927246	G	A	222	PASS	LAMA5	Laminin, alpha-5	exonic	NM_005560	.	synonymous SNV	LAMA5:NM_005560:exon53:c.C7179T:p.D2393D	ENSG00000130702.15,ENST00000252999.7	.	20q13.33	.	.	.	.	.	rs148927246	.	.	0.0149502	0.0258	0.0061901	0.0005	0.00165796	273228	0.01785524	18818	0.00855365	0.00793651	.	-0.3812	.	.	.	.	.	.	.	.	.	-0.121	-0.127	.	.	.	VDB=0.0868958;SGB=-0.693147;RPB=0.58442;MQB=1.32123e-17;MQSB=0.991095;BQB=0.637429;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=418;DP4=121,17,132,19;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/1:151:255,0,255:75,76	0/0:101:.:.	0/0:101:.:.	0/0:50:.:.	0/0:100:.:.	0/0:98:.:.	0/0:104:.:.	0/1:138:255,0,255:63,75	G	A	0	2	Laminin, alpha-5, 601033	.	.	.	9271224|18676816|12743034|7499364|9628581|11572484|19396173	GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_GLAND_MORPHOGENESIS;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_SALIVARY_GLAND_DEVELOPMENT;GO_CELL_PROJECTION_ASSEMBLY;GO_CYTOSKELETON_ORGANIZATION;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_SINGLE_ORGANISM_CELL_ADHESION;GO_TISSUE_MORPHOGENESIS;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_CELL_MATRIX_ADHESION;GO_KIDNEY_EPITHELIUM_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_AMEBOIDAL_TYPE_CELL_MIGRATION;GO_CELL_SUBSTRATE_ADHESION;GO_CELL_MOTILITY;GO_EMBRYO_DEVELOPMENT;GO_NEURAL_CREST_CELL_MIGRATION;GO_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_CELL_JUNCTION_ORGANIZATION;GO_ADHERENS_JUNCTION_ASSEMBLY;GO_MESENCHYMAL_CELL_DIFFERENTIATION;GO_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_NEPHRON_EPITHELIUM_DEVELOPMENT;GO_CILIUM_MORPHOGENESIS;GO_CELL_PROLIFERATION;GO_CILIUM_ORGANIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_RENAL_TUBULE_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_BRANCHING_INVOLVED_IN_URETERIC_BUD_MORPHOGENESIS;GO_EXOCRINE_SYSTEM_DEVELOPMENT;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_ENDOTHELIUM_DEVELOPMENT;GO_MESONEPHRIC_TUBULE_MORPHOGENESIS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE;GO_SKIN_EPIDERMIS_DEVELOPMENT;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_ORGANELLE_ASSEMBLY;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_MOLTING_CYCLE;GO_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_EMBRYONIC_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_VASCULATURE_DEVELOPMENT;GO_EPIDERMIS_DEVELOPMENT;GO_CELL_SUBSTRATE_JUNCTION_ASSEMBLY;GO_CELL_SUBSTRATE_ADHERENS_JUNCTION_ASSEMBLY;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_CELL_JUNCTION_ASSEMBLY;GO_MESENCHYME_DEVELOPMENT;GO_MORPHOGENESIS_OF_A_POLARIZED_EPITHELIUM;GO_PROTEIN_LOCALIZATION;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_CELL_RECOGNITION;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_ADHERENS_JUNCTION_ORGANIZATION;GO_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELL_ADHESION;GO_TUBE_MORPHOGENESIS;GO_REGULATION_OF_EMBRYONIC_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_STEM_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_KIDNEY_MORPHOGENESIS;GO_GLAND_DEVELOPMENT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_NEPHRON_DEVELOPMENT;GO_INTEGRIN_MEDIATED_SIGNALING_PATHWAY;GO_SKIN_DEVELOPMENT;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE;GO_BRANCHING_INVOLVED_IN_SALIVARY_GLAND_MORPHOGENESIS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_MESONEPHROS_DEVELOPMENT;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_NEURAL_CREST_CELL_DIFFERENTIATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_ODONTOGENESIS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION	GO_EXTRACELLULAR_MATRIX;GO_BASAL_LAMINA;GO_BASEMENT_MEMBRANE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_EXTRACELLULAR_SPACE	GO_PROTEIN_COMPLEX_BINDING;GO_INTEGRIN_BINDING;GO_CELL_ADHESION_MOLECULE_BINDING;GO_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN4_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	.	http://www.proteinatlas.org/ENSG00000130702-LAMA5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	skin: 23.0	vesicles; nucleus but not nucleoli	.	BP7
H	20	61442929	rs144253683	A	G	222	PASS	OGFR	.	exonic	NM_007346	.	missense SNV	OGFR:NM_007346:exon6:c.A581G:p.Q194R	ENST00000290291.10,ENSG00000060491.16,ENST00000370461.5,ENST00000621591.4	CpG: 18	20q13.33	.	.	.	.	.	rs144253683	.	.	0.0299003	0.0258	0.00519169	.	0.00201407	246764	0.02699544	17114	0.02759425	0.01675485	.	0.4695	Opioid growth factor receptor (OGFr) conserved domain	0.082,T	0.602,P	0.955,P	0.996832,N	0.432807,N	1.7,L	0.91,T	13.0234	1.826	2.565	1.008105,10.71	4.86	.	VDB=1.07886e-07;SGB=-0.693139;RPB=0.779842;MQB=5.98896e-11;MQSB=0.351268;BQB=0.99382;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=216;DP4=31,49,35,45;MinDP=50;AN=18;AC=2	GT:PL:DP:AD	0/1:255,0,255:75:39,36	0/0:.:51:.	0/0:.:50:.	0/0:.:54:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:85:41,44	A	G	0	2	.	.	.	.	.	GO_REGULATION_OF_GROWTH;GO_REGULATION_OF_CELL_GROWTH;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_PEPTIDE_RECEPTOR_ACTIVITY	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000060491-OGFR/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 33.0	nucleus but not nucleoli	.	PM1
H	20	62326159	rs115303435	G	A	222	PASS	RTEL1	Regulator of telomere elongation helicase 1	exonic	NM_001283009,NM_001283010,NM_016434,NM_032957	.	missense SNV	RTEL1:NM_001283010:exon31:c.G2506A:p.A836T,RTEL1:NM_001283009:exon32:c.G3175A:p.A1059T,RTEL1:NM_016434:exon32:c.G3175A:p.A1059T,RTEL1:NM_032957:exon32:c.G3247A:p.A1083T	ENST00000318100.8,ENST00000492259.6,ENST00000370003.2,ENSG00000026036.21,ENST00000496816.5,ENST00000360203.9,ENSG00000258366.7,ENST00000508582.6,ENST00000496281.1,ENST00000370018.7,ENST00000480273.5,ENST00000482936.5	.	20q13.33	.	.	.	.	.	rs115303435	.	.	0.0299003	0.0367	0.00778754	0.0002	0.00300204	275146	0.04026596	18800	0.03695060	0.04174067	.	-0.4712	.	0.1,T	0.191,B	0.88,P	1,N	0.489440,N	1.15,L	-1.56,D	7.5827	0.090	0.010	1.399868,12.79	.	.	VDB=0.973875;SGB=-0.693147;RPB=0.945037;MQB=8.40914e-25;MQSB=0.684947;BQB=0.812993;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=206;DP4=65,13,65,17;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:116:.:.	0/0:101:.:.	0/0:148:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:160:255,0,255:78,82	G	A	0	1	Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant	.	.	.	10655513|23329068|25607374|23959892|15210109|19461895|23591994|25848748|24115439|23453664|20203049|9671732	GO_DNA_DEPENDENT_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY;GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR;GO_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_DNA_RECOMBINATION;GO_DNA_DEPENDENT_DNA_REPLICATION;GO_CELL_CYCLE_DNA_REPLICATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING;GO_TELOMERE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_DNA_REPAIR;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_DNA_CONFORMATION_CHANGE;GO_REGULATION_OF_TELOMERE_MAINTENANCE;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_MITOTIC_CELL_CYCLE;GO_DNA_REPAIR;GO_POSITIVE_REGULATION_OF_TELOMERE_CAPPING;GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_DNA_RECOMBINATION;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING;GO_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE;GO_CELL_CYCLE;GO_STRAND_DISPLACEMENT;GO_DNA_GEOMETRIC_CHANGE;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_TELOMERE_MAINTENANCE;GO_REGULATION_OF_TELOMERE_CAPPING;GO_NEGATIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING;GO_CELLULAR_HOMEOSTASIS;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_DNA_REPLICATION;GO_CELL_CYCLE_PROCESS;GO_DNA_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS	.	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_METAL_CLUSTER_BINDING;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_4_IRON_4_SULFUR_CLUSTER_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000258366-RTEL1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 7.9	nucleus	.	BS1
H	21	15524978	rs749553448	A	C	222	PASS	LIPI	Lipase I	exonic	NM_001302998,NM_001302999,NM_001303000,NM_198996	.	missense SNV	LIPI:NM_001302999:exon7:c.T944G:p.V315G,LIPI:NM_001302998:exon8:c.T1034G:p.V345G,LIPI:NM_001303000:exon8:c.T1016G:p.V339G,LIPI:NM_198996:exon8:c.T1097G:p.V366G	ENST00000344577.6,ENST00000614229.4,ENSG00000188992.11,ENST00000536861.5	.	21q11.2	.	.	.	.	.	rs749553448	.	.	.	.	.	.	0.00008757	274068	0.00128068	18740	0.00051921	0.00177305	.	0.1959	Alpha/Beta hydrolase fold	0.002,D	0.096,B	0.257,B	1,N	0.867201,N	0.895,L	-2.42,D	6.3006	0.235	1.193	1.267915,12.10	.	0.0372372409861	VDB=0.363669;SGB=-0.692562;RPB=0.995323;MQB=0.0940933;MQSB=0.868535;BQB=0.987527;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=72;DP4=15,17,9,13;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:54:255,0,255:32,22	A	C	0	1	{Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant	.	.	.	12719377	GO_DIGESTION;GO_LIPID_DIGESTION;GO_LIPID_METABOLIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_EXTRACELLULAR_SPACE	GO_SULFUR_COMPOUND_BINDING;GO_HEPARIN_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_GLYCOSAMINOGLYCAN_BINDING;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_LIPASE_ACTIVITY;GO_PHOSPHOLIPASE_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000188992-LIPI/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	endometrium: 0.1	.	.	PM1, PM2
L	21	15882622	rs118173592	T	C	222	PASS	SAMSN1	SAM domain, SH3 domain, and nuclear localization signals 1	splicing	NM_001256370,NM_001286523,NM_022136	NM_001256370:exon6:c.765+9A>G;NM_001286523:exon6:c.354+9A>G;NM_022136:exon5:c.561+9A>G	.	.	ENSG00000155307.17,ENST00000400566.5,ENST00000619120.4,ENST00000400564.5,ENST00000285670.6	.	21q11.2	.	.	Score=787;Name=V$GFI1_01	.	.	rs118173592	.	.	0.0581395	0.0546	0.0111821	7.7e-05	0.00311979	276942	0.04320399	18864	0.02973183	0.03697183	.	0.0281	.	.	.	.	.	.	.	.	.	-0.078	-0.005	1.817611,15.09	.	.	VDB=0.98325;SGB=-0.693139;RPB=0.470888;MQB=2.28557e-08;MQSB=0.709616;BQB=0.680397;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=84;DP4=22,7,25,11;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/1:65:255,0,255:29,36	T	C	0	1	SAM domain, SH3 domain, and nuclear localization signals 1, 607978	.	.	.	11536050|9140409|15381729	GO_REGULATION_OF_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_B_CELL_ACTIVATION;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_B_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_CELL_ACTIVATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_NEGATIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS	GO_CELL_PROJECTION;GO_RUFFLE;GO_CELL_LEADING_EDGE	GO_PHOSPHOPROTEIN_BINDING;GO_PROTEIN_PHOSPHORYLATED_AMINO_ACID_BINDING;GO_PHOSPHOTYROSINE_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Cytoplasmic expression in several different tissues, most abundant in Leydig and lymphoid cells.	http://www.proteinatlas.org/ENSG00000155307-SAMSN1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	tonsil: 34.0	.	.	BS1
L	21	30357100	rs199730831	C	T	222	PASS	LTN1	Listerin E3 ubiquitin protein ligase 1	exonic	NM_001320766,NM_015565	.	synonymous SNV	LTN1:NM_001320766:exon4:c.G627A:p.A209A,LTN1:NM_015565:exon4:c.G627A:p.A209A	ENST00000389194.6,ENST00000614971.4,ENST00000361371.9,ENST00000389195.6,ENST00000483326.1,ENSG00000198862.13	.	21q21.3	.	.	.	.	.	rs199730831	.	.	.	.	.	7.7e-05	0.00007218	277086	.	.	.	.	.	-0.0836	.	.	.	.	.	.	.	.	.	-3.846	-2.069	.	.	.	VDB=0.377137;SGB=-0.69311;RPB=0.946741;MQB=4.55744e-08;MQSB=0.367879;BQB=0.102834;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=89;DP4=26,5,22,9;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/0:50:.:.	0/1:62:255,0,255:31,31	C	T	0	1	Listerin E3 ubiquitin protein ligase 1, 613083	.	.	.	20835226|19196968|9872452	GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_AUTOUBIQUITINATION;GO_PROTEIN_UBIQUITINATION	.	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY;GO_ZINC_ION_BINDING;GO_LIGASE_ACTIVITY	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000198862-LTN1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 11.2	cytoplasm	.	BP7, PM2
H-	21	34860860	.	G	A	222	PASS	DNAJC28	.	exonic	NM_001040192,NM_001320746,NM_017833	.	missense SNV	DNAJC28:NM_001040192:exon2:c.C841T:p.L281F,DNAJC28:NM_001320746:exon2:c.C841T:p.L281F,DNAJC28:NM_017833:exon2:c.C841T:p.L281F	ENST00000381947.3,ENST00000617313.4,ENST00000402202.1,ENSG00000177692.11,ENST00000314399.3	.	21q22.11	.	.	.	.	.	.	.	.	.	.	.	.	0.00001087	276006	0.00015918	18846	.	.	.	.	.	0.049,D	0.999,D	1.0,D	0.999256,D	0.000000,D	1.86,L	.	19.1662	2.636	7.152	4.352527,24.1	5.58	0.00703682165418	VDB=0.383243;SGB=-0.693144;RPB=0.965346;MQB=7.11776e-09;MQSB=0.78008;BQB=0.998708;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=94;DP4=22,11,26,13;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:69:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:72:255,0,255:33,39	G	A	0	1	.	.	.	.	.	GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_RETROGRADE_VESICLE_MEDIATED_TRANSPORT_GOLGI_TO_ER;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_GOLGI_VESICLE_TRANSPORT;GO_RETROGRADE_TRANSPORT_VESICLE_RECYCLING_WITHIN_GOLGI;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_GOLGI_ORGANIZATION	GO_GOLGI_APPARATUS_PART;GO_GOLGI_TRANSPORT_COMPLEX;GO_GOLGI_APPARATUS	.	.	.	.	.	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000177692-DNAJC28/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 7.4	nucleus; nucleoli; golgi apparatus; cytoskeleton (cytokinetic bridge)	.	PM2
H	21	35772734	rs118030469	A	T	222	PASS	C21orf140	.	exonic	NM_001282537	.	missense SNV	C21orf140:NM_001282537:exon1:c.T637A:p.C213S	ENST00000399299.5,ENST00000622934.3,ENSG00000222018.1,ENST00000612624.4,ENSG00000205670.10,ENST00000481710.5,ENSG00000273590.4,ENST00000613894.3,ENSG00000277277.3,ENST00000495363.5,ENST00000410005.1,ENST00000623661.1	.	21q22.11	.	.	.	.	.	rs118030469	.	.	0.0348837	0.0367	0.00738818	.	0.00199485	175452	0.02698791	11746	0.03381267	0.03615520	.	.	.	0.023,D	.	.	1,D	.	1.04,L	.	13.9025	2.176	5.764	1.526359,13.45	5.37	.	VDB=0.667591;SGB=-0.693054;RPB=0.910046;MQB=3.10223e-09;MQSB=0.99997;BQB=0.452607;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=208;DP4=59,30,46,25;MinDP=30;AN=18;AC=3	GT:DP:PL:AD	0/0:30:.:.	0/1:61:255,0,255:33,28	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:48:.:.	0/0:44:.:.	0/1:42:255,0,255:25,17	0/1:57:255,0,255:31,26	A	T	0	3	.	.	.	.	.	.	.	.	.	.	.	.	Megakaryocytes, subsets of renal tubules and cells in the gastrointestinal tract glands displayed strong cytoplasmic positivity. The basal layer in squamous epithelium, alveolar macrophages, trophoblasts, seminal vesicles and heart exhibited moderate immunoreactivity. Remaining normal cells were generally negative.	http://www.proteinatlas.org/ENSG00000222018-C21orf140/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	testis: 1.8	.	.	BS1
L	21	41465748	rs41445251	G	A	222	PASS	DSCAM	Down syndrome cell adhesion molecule	exonic	NM_001271534,NM_001389	.	synonymous SNV	DSCAM:NM_001271534:exon21:c.C3750T:p.N1250N,DSCAM:NM_001389:exon21:c.C3750T:p.N1250N	ENST00000404019.2,ENST00000400454.5,ENSG00000171587.14,ENST00000617870.4	.	21q22.2	.	.	.	.	.	rs41445251	.	.	0.0215947	0.0218	0.0101837	0.0005	0.00609840	275154	0.02765686	18838	0.02681695	0.02376761	.	0.1012	.	.	.	.	.	.	.	.	.	1.065	2.880	.	3.81	.	VDB=0.0544602;SGB=-0.692976;RPB=0.918688;MQB=1.61442e-10;MQSB=0.992038;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=177;DP4=48,20,33,25;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:63:255,0,255:37,26	0/1:63:255,0,255:31,32	G	A	0	2	Down syndrome cell adhesion molecule, 602523	.	.	.	11280955|18216855|19794492|17851526|24831526|18585357|17721508|10892653|18216854|9426258	GO_DENDRITE_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEURON_RECOGNITION;GO_CELL_PART_MORPHOGENESIS;GO_SYNAPSE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_TISSUE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_AXON_GUIDANCE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURAL_RETINA_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_POST_EMBRYONIC_MORPHOGENESIS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_CELL_SIZE;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_CAMERA_TYPE_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_RETINA_LAYER_FORMATION;GO_POSITIVE_REGULATION_OF_GROWTH;GO_PHOTORECEPTOR_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_EYE_DEVELOPMENT;GO_REGULATION_OF_CHEMOTAXIS;GO_CELL_RECOGNITION;GO_REGULATION_OF_CELL_ADHESION;GO_SENSORY_ORGAN_DEVELOPMENT;GO_CELL_PROJECTION_ORGANIZATION;GO_SENSORY_ORGAN_MORPHOGENESIS;GO_LOCOMOTORY_BEHAVIOR;GO_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_HOMOPHILIC_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE;GO_CELL_DEVELOPMENT;GO_CAMERA_TYPE_EYE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELL_CELL_ADHESION_VIA_PLASMA_MEMBRANE_ADHESION_MOLECULES;GO_BEHAVIOR;GO_POST_EMBRYONIC_DEVELOPMENT;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_SYNAPSE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_EYE_MORPHOGENESIS	GO_SITE_OF_POLARIZED_GROWTH;GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_AXON;GO_CELL_JUNCTION;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART	.	.	PID_ERA_GENOMIC_PATHWAY;PID_HNF3A_PATHWAY	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_DSCAM_INTERACTIONS	Distinct cytoplasmic expression in CNS and peripheral nerves.	http://www.proteinatlas.org/ENSG00000171587-DSCAM/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 0.6	nucleus but not nucleoli; cytoplasm	.	BS2
L	21	43539216	rs114180583	C	T	151	PASS	UMODL1	Uromodulin-like 1	splicing	NM_001004416,NM_001199527,NM_001199528,NM_173568	NM_001004416:exon15:c.2476-5C>T;NM_001199527:exon14:c.2644-5C>T;NM_001199528:exon15:c.2260-5C>T;NM_173568:exon14:c.2860-5C>T	.	.	ENST00000408910.6,ENST00000400424.6,ENST00000408989.6,ENST00000400427.5,ENSG00000177398.18	.	21q22.3	.	.	.	.	.	rs114180583	.	.	0.00830565	0.0129	0.0189696	0.0157	0.01282943	276006	0.00938992	18850	0.00893898	0.01232394	0,0.012	15.5220	.	.	.	.	.	.	.	.	.	-0.946	-1.933	.	.	.	VDB=0.204844;SGB=-0.689466;RPB=0.932405;MQB=1.96249e-05;BQB=0.719962;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=36;DP4=14,0,16,0;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/1:30:184,0,167:14,16	C	T	0	1	Uromodulin-like 1, 613859	.	.	.	15194491	GO_SINGLE_FERTILIZATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_RESPONSE_TO_PEPTIDE;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REGULATION_OF_FEMALE_GONAD_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_REPRODUCTIVE_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_FERTILIZATION;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_PROTEOLYSIS;GO_ADIPOSE_TISSUE_DEVELOPMENT;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY	GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE	GO_PEPTIDASE_REGULATOR_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_INHIBITOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_PEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000177398-UMODL1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	small intestine: 0.1	.	.	.
H	21	44492252	rs201827340	G	A	210	PASS	CBSL,CBS	Cystathionine beta-synthase	exonic	NM_000071,NM_001178008,NM_001178009,NM_001320298,NM_001321073	.	missense SNV	CBS:NM_000071:exon3:c.C52T:p.R18C,CBS:NM_001178008:exon3:c.C52T:p.R18C,CBS:NM_001178009:exon3:c.C52T:p.R18C,CBSL:NM_001321073:exon3:c.C52T:p.R18C,CBS:NM_001320298:exon4:c.C52T:p.R18C	ENST00000624406.3,ENSG00000274276.4,ENST00000470912.5,ENST00000617706.4,ENST00000624934.3,ENST00000488526.1,ENST00000622914.1,ENST00000618024.4,ENST00000441030.5,ENST00000398158.5,ENST00000624921.1,ENST00000352178.9,ENST00000398165.7,ENST00000359624.7,ENSG00000160200.17,ENST00000398168.5,ENST00000465732.5	.	21q22.3	.	.	.	.	.	rs201827340	Likely benign|other|Benign;Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Homocystinuria_due_to_CBS_deficiency;RCV000251012.1|RCV000359251.2|RCV000466468.1;MedGen:Orphanet|MedGen|MedGen:OMIM;CN118826:ORPHA91387|CN169374|C3150344:236200	.	0.00996678	0.0129	0.00259585	0.0002	0.00080857	272084	0.01122102	18804	0.00661736	0.00968310	.	-1.1251	.	0.046,D	0.115,B	0.453,P	1,N	0.161410,N	0.695,N	-4.35,D	3.5696	0.540	0.530	1.960044,15.96	2.98	.	VDB=0.0798321;SGB=-0.69168;RPB=0.945548;MQB=5.26706e-06;MQSB=0.751265;BQB=0.95566;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=51;DP4=0,27,3,16;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:32:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/1:46:243,0,166:27,19	G	A	0	1	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive	.	Altered enzyme activity(CM055115)	CGC-TGC|Arg18Cys|c.52C>T|p.R18C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=16205833&amp;dopt=Abstract)	16205833|8990018|8094069|9020585|10477427|3157380|7598711|9383285|9813456|7581402|10328723|10780316|5014609|18454451|7506602|11359213|12552044|10052942|9361025|4531018|10364517|8755636|8554066|8353501|1301198|10338090|7903580|9790750|7967489|681363|8022826|8528202|14635102|28583326|16205833|12007221|2894761|15466479|11391481|12799373|12588964|14722619|7762555|11230183|9590298|7611293|19819175|6583157|6711564|8940285|7564249|2347594|8940271|16479318|15972722|7878023	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_ALPHA_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS;GO_SERINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ALPHA_AMINO_ACID_CATABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_HOMOCYSTEINE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_SULFUR_COMPOUND_CATABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_OXIDATION_REDUCTION_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SULFUR_AMINO_ACID_METABOLIC_PROCESS;GO_SULFUR_AMINO_ACID_BIOSYNTHETIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_SERINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_DNA_METABOLIC_PROCESS	.	GO_SULFUR_COMPOUND_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_HYDRO_LYASE_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_PYRIDOXAL_PHOSPHATE_BINDING;GO_MODIFIED_AMINO_ACID_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_OXYGEN_BINDING;GO_LYASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_ENZYME_BINDING;GO_COFACTOR_BINDING;GO_TETRAPYRROLE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_CARBON_OXYGEN_LYASE_ACTIVITY	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM;KEGG_CYSTEINE_AND_METHIONINE_METABOLISM;KEGG_SELENOAMINO_ACID_METABOLISM	.	.	REACTOME_SULFUR_AMINO_ACID_METABOLISM;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	.	.	.	.	.	.	BP6
H	21	45833864	rs145947009	C	T	222	PASS	TRPM2	Transient receptor potential cation channel, subfamily M, member 2	exonic	NM_001320350,NM_001320351,NM_003307	.	missense SNV	TRPM2:NM_001320350:exon20:c.C3053T:p.P1018L,TRPM2:NM_001320351:exon20:c.C3053T:p.P1018L,TRPM2:NM_003307:exon20:c.C3053T:p.P1018L	ENST00000498430.5,ENST00000300481.13,ENSG00000142185.16,ENST00000397928.5,ENST00000300482.9,ENST00000397932.6	.	21q22.3	.	.	.	.	.	rs145947009	.	.	0.0398671	0.0337	0.00698882	0.0002	0.00177933	277070	0.02465013	18864	0.01418578	0.00441696	.	-0.7580	Ion transport domain	0.0,D	1.0,D	1.0,D	1,D	0.017870,N	3.055,M	0.01,T	18.5231	2.455	7.109	5.981250,27.8	4.93	.	VDB=0.00335614;SGB=-0.693147;RPB=0.997028;MQB=3.24173e-37;MQSB=0.651003;BQB=0.996068;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=351;DP4=87,45,76,51;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/1:259:255,0,255:132,127	C	T	0	1	Transient receptor potential cation channel, subfamily M, member 2, 603749	.	Amyotrophic lateral sclerosis and parkinson disease(CM086006)	CCG-CTG|Pro1018Leu|c.3053C>T|p.P1018L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=19004782&amp;dopt=Abstract)	19004782|19372375|21932052|11804595|10717675|9179495|16205735|9806837|11385575|11509734|27562954|27533035|15708008|16822861|11960981|18542050|12594222	GO_ION_TRANSPORT;GO_INORGANIC_ION_IMPORT_INTO_CELL;GO_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_NEURON_DEATH;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_REGULATION_OF_HORMONE_LEVELS;GO_HOMEOSTATIC_PROCESS;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_OVULATION_CYCLE;GO_CATION_TRANSPORT;GO_POSITIVE_REGULATION_OF_INSULIN_SECRETION;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_CALCIUM_ION_IMPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_CYTOSOLIC_CALCIUM_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_HORMONE_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_POSITIVE_REGULATION_OF_HORMONE_SECRETION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_CYTOSOLIC_CALCIUM_ION_CONCENTRATION;GO_RHYTHMIC_PROCESS;GO_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_CELL_DEATH;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_ION_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_PEPTIDE_SECRETION;GO_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_NEURON_DEATH;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_IMPORT_INTO_CELL;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_POSITIVE_REGULATION_OF_SECRETION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_OXIDATIVE_STRESS_INDUCED_CELL_DEATH;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_SODIUM_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_CALCIUM_ION_IMPORT_INTO_CYTOSOL;GO_ESTROUS_CYCLE;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_NEURON_PART;GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_NEURON_PROJECTION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT	GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY;GO_SODIUM_CHANNEL_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	Cytoplasmic expression in selected tissues, most abundant in subsets of lymphoid cells.	http://www.proteinatlas.org/ENSG00000142185-TRPM2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	bone marrow: 12.4	nuclear membrane	.	PM1, PP3, PP5
L	21	45876821	rs61735247	C	T	222	PASS	LRRC3	Leucine-rich repeat-containing protein 3	exonic	NM_030891	.	synonymous SNV	LRRC3:NM_030891:exon2:c.C294T:p.N98N	ENST00000291592.5,ENSG00000160233.7	CpG: 131	21q22.3	.	.	.	.	.	rs61735247	.	.	0.0182724	0.0208	0.0183706	0.0148	0.02185034	271712	0.02219851	18740	0.02137583	0.02031802	.	.	.	.	.	.	.	.	.	.	.	-0.039	-0.579	.	.	.	VDB=0.633742;SGB=-0.693147;RPB=0.828846;MQB=1.79869e-24;MQSB=0.86584;BQB=0.945291;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=797;DP4=185,116,187,119;MinDP=100;AN=18;AC=3	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/1:187:255,0,255:89,98	0/0:100:.:.	0/1:187:255,0,255:93,94	0/1:233:255,0,255:119,114	C	T	0	3	Leucine-rich repeat-containing protein 3, 617620	.	.	.	12036297	.	.	.	.	.	.	.	Moderate to strong cytoplasmic staining was observed in most normal cells. Glial cells in CNS were generally negative.	http://www.proteinatlas.org/ENSG00000160233-LRRC3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	liver: 2.8	.	.	BP7
L	21	45959293	rs142881628	A	G	222	PASS	KRTAP10-1	.	exonic	NM_198691	.	synonymous SNV	KRTAP10-1:NM_198691:exon1:c.T741C:p.P247P	ENST00000397916.1,ENSG00000175894.14,ENSG00000215455.4,ENST00000614657.4,ENST00000323084.8,ENST00000400375.1,ENST00000613245.4	.	21q22.3	.	.	.	Score=0.925749;Name=chr21:45998817	.	rs142881628	.	.	0.0232558	0.0188	0.00539137	.	0.00337379	276544	0.01810940	18830	0.01962689	0.02473498	.	.	.	.	.	.	.	.	.	.	.	0.105	-1.067	.	.	.	VDB=0.390393;SGB=-0.693147;RPB=0.175096;MQB=2.85395e-26;MQSB=0.583976;BQB=0.814212;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=205;DP4=59,18,72,17;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:102:.:.	0/0:109:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:103:.:.	0/1:166:255,0,255:77,89	A	G	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000215455-KRTAP10-1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP7
L	21	45959298	rs147442908	T	C	222	PASS	KRTAP10-1	.	exonic	NM_198691	.	missense SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V	ENST00000397916.1,ENSG00000175894.14,ENSG00000215455.4,ENST00000614657.4,ENST00000323084.8,ENST00000400375.1,ENST00000613245.4	.	21q22.3	.	.	.	Score=0.925749;Name=chr21:45998817	.	rs147442908	.	.	0.0199336	0.0198	0.0061901	0.0024	0.00256418	276502	0.01768455	18830	0.01826661	0.02120141	.	.	.	1.0,T	0.0,B	0.0,B	1,N	.	-2.775,N	5.15,T	8.161	1.018	-0.138	.	2.13	.	VDB=0.326199;SGB=-0.693147;RPB=0.662483;MQB=8.26567e-29;MQSB=0.735895;BQB=0.718861;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=211;DP4=63,19,73,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:102:.:.	0/0:109:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:103:.:.	0/1:174:255,0,255:82,92	T	C	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000215455-KRTAP10-1/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4
L	21	46012065	rs587754131	C	T	222	PASS	KRTAP10-6	.	exonic	NM_198688	.	missense SNV	KRTAP10-6:NM_198688:exon1:c.G301A:p.A101T	ENSG00000188155.11,ENSG00000175894.14,ENSG00000215454.6,ENST00000400368.1_0,ENST00000614657.4,ENST00000622352.3,ENST00000400368.1,ENST00000323084.8,ENST00000613245.4	.	21q22.3	.	.	.	Score=0.950851;Name=chr21:46020514	.	rs587754131	.	.	0.0116279	0.0099	0.00279553	.	0.00120393	253338	0.01271860	17612	0.01467090	0.02264493	.	.	.	1.0,T	0.0,B	0.0,B	1,N	.	-2.34,N	5.06,T	0.4751	-0.502	-0.553	.	.	0.00789357248741	VDB=0.168146;SGB=-0.693147;RPB=0.999858;MQB=2.57386e-13;MQSB=0.986079;BQB=0.0523107;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=278;DP4=73,62,31,58;MinDP=51;AN=16;AC=1	GT:DP:PL:AD	0/0:123:.:.	./.:.:.:.	0/0:119:.:.	0/0:100:.:.	0/0:102:.:.	0/0:54:.:.	0/0:51:.:.	0/0:127:.:.	0/1:224:255,0,255:135,89	C	T	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188155-KRTAP10-6/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP4
L	21	46012066	rs587648107	A	G	222	PASS	KRTAP10-6	.	exonic	NM_198688	.	synonymous SNV	KRTAP10-6:NM_198688:exon1:c.T300C:p.C100C	ENSG00000188155.11,ENSG00000175894.14,ENSG00000215454.6,ENST00000400368.1_0,ENST00000614657.4,ENST00000622352.3,ENST00000400368.1,ENST00000323084.8,ENST00000613245.4	.	21q22.3	.	.	.	Score=0.950851;Name=chr21:46020514	.	rs587648107	.	.	0.0116279	0.0099	0.00279553	.	0.00130535	252040	0.01288190	17544	0.01505547	0.02962298	.	.	.	.	.	.	.	.	.	.	.	-0.177	-1.133	.	.	.	VDB=0.26934;SGB=-0.693147;RPB=0.893697;MQB=5.15939e-13;MQSB=0.985786;BQB=0.248655;MQ0F=0;ICB=1;HOB=0.5;MQ=35;DP=277;DP4=69,63,30,61;MinDP=51;AN=16;AC=1	GT:DP:PL:AD	0/0:123:.:.	./.:.:.:.	0/0:119:.:.	0/0:100:.:.	0/0:102:.:.	0/0:54:.:.	0/0:51:.:.	0/0:127:.:.	0/1:223:255,0,255:132,91	A	G	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188155-KRTAP10-6/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	BP7
L	21	46012076	rs201467774	A	G	206	PASS	KRTAP10-6	.	exonic	NM_198688	.	missense SNV	KRTAP10-6:NM_198688:exon1:c.T290C:p.L97P	ENSG00000188155.11,ENSG00000175894.14,ENSG00000215454.6,ENST00000400368.1_0,ENST00000614657.4,ENST00000622352.3,ENST00000400368.1,ENST00000323084.8,ENST00000613245.4	.	21q22.3	.	.	Score=767;Name=V$YY1_02	Score=0.950851;Name=chr21:46020514	.	rs201467774	.	.	.	.	.	.	0.00194216	250752	0.01347186	17518	0.01506741	0.02962298	.	.	.	1.0,T	0.0,B	0.0,B	0.86118,D	.	-2.71,N	5.61,T	3.0503	0.570	-0.003	.	.	0.019599226237	VDB=0.80393;SGB=-0.693147;RPB=0.525024;MQB=2.31084e-12;MQSB=0.931474;BQB=0.0317332;MQ0F=0;ICB=1;HOB=0.5;MQ=34;DP=280;DP4=63,65,32,58;MinDP=51;AN=16;AC=1	GT:DP:PL:AD	0/0:123:.:.	./.:.:.:.	0/0:119:.:.	0/0:100:.:.	0/0:102:.:.	0/0:54:.:.	0/0:51:.:.	0/0:127:.:.	0/1:218:239,0,255:128,90	A	G	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000188155-KRTAP10-6/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	.
H	21	46032196	rs373726010	G	A	222	PASS	KRTAP10-8	.	exonic	NM_198695	.	missense SNV	KRTAP10-8:NM_198695:exon1:c.G179A:p.C60Y	ENSG00000175894.14,ENSG00000215454.6,ENST00000614657.4,ENST00000622352.3,ENSG00000187766.1,ENST00000323084.8,ENST00000334662.2,ENST00000613245.4	.	21q22.3	.	.	Score=951;Name=V$LMO2COM_01	.	.	rs373726010	.	.	.	.	.	.	0.00002170	276454	0.00021202	18866	.	.	.	.	.	0.0,D	0.988,D	0.997,D	1,D	.	2.76,M	4.03,T	9.4844	1.285	1.168	3.168638,22.7	2.88	0.0146493995038	VDB=0.827784;SGB=-0.693147;RPB=0.592357;MQB=3.94965e-11;MQSB=0.339353;BQB=0.959865;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=267;DP4=74,29,80,27;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:210:255,0,255:103,107	G	A	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000187766-KRTAP10-8/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM2
L	21	46101867	rs539596533	C	T	222	PASS	KRTAP12-1	.	exonic	NM_181686	.	missense SNV	KRTAP12-1:NM_181686:exon1:c.G172A:p.V58M	ENSG00000175894.14,ENSG00000187175.5,ENST00000614657.4,ENST00000323084.8,ENST00000613245.4,ENST00000391617.1	.	21q22.3	.	.	.	Score=0.938543;Name=chr21:46085687	.	rs539596533	.	.	0	.	0.000199681	.	0.00008663	277056	0.00042400	18868	0.00019433	.	.	.	.	0.012,D	0.889,P	0.997,D	0.594908,D	.	.	2.39,T	6.6793	0.194	-0.405	3.575367,23.2	.	0.00436965292635	VDB=0.126735;SGB=-0.693147;RPB=0.999998;MQB=8.77869e-26;MQSB=0.980443;BQB=0.57958;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=289;DP4=80,25,86,25;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:103:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:216:255,0,255:105,111	C	T	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000187175-KRTAP12-1/tissue	FPKM<0.5 in all tissues <Not detected>	skin: 0.1	.	.	PM2
H	21	46117123	rs138384392	G	A	222	PASS	KRTAP10-12	.	exonic	NM_198699	.	missense SNV	KRTAP10-12:NM_198699:exon1:c.G7A:p.V3I	ENSG00000175894.14,ENSG00000189169.7,ENST00000614657.4,ENST00000323084.8,ENST00000400365.3,ENST00000613245.4	.	21q22.3	.	.	.	.	.	rs138384392	.	.	0	.	0.00219649	0.0023	0.00068332	276592	.	.	.	.	.	.	.	0.225,T	0.001,B	0.002,B	0.946664,D	.	1.09,L	6.07,T	2.2494	-0.975	-1.514	.	.	0.0059890316312	VDB=0.92874;SGB=-0.693147;RPB=0.992866;MQB=5.31226e-20;MQSB=0.999441;BQB=0.51221;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=198;DP4=62,20,44,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/1:145:255,0,255:82,63	G	A	0	1	.	.	.	.	.	.	GO_INTERMEDIATE_FILAMENT;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_KERATIN_FILAMENT	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000189169-KRTAP10-12/tissue	FPKM<0.5 in all tissues <Not detected>	.	.	.	PM2
L	21	46191400	rs140029290	G	A	222	PASS	UBE2G2	Ubiquitin-conjugating enzyme E2G 2	exonic	NM_001202489,NM_003343,NM_182688	.	synonymous SNV	UBE2G2:NM_001202489:exon4:c.C180T:p.P60P,UBE2G2:NM_003343:exon6:c.C390T:p.P130P,UBE2G2:NM_182688:exon7:c.C306T:p.P102P	ENST00000497630.5,ENST00000330942.9,ENST00000491513.5,ENST00000481546.1,ENST00000477954.5,ENST00000345496.6,ENSG00000184787.18	.	21q22.3	.	.	.	.	.	rs140029290	.	.	0.00332226	0.002	0.00738818	0.0055	0.00790747	274930	0.00090090	18870	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	2.396	0.909	.	3.17	.	VDB=0.000309798;SGB=-0.693147;RPB=0.100377;MQB=1.62958e-13;MQSB=0.689538;BQB=0.264843;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=132;DP4=24,12,36,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:89:255,0,255:36,53	G	A	0	1	Ubiquitin-conjugating enzyme E2G 2, 603124	.	.	.	9693041|17310145|9925943	GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_N_LINKED_GLYCOSYLATION;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_RESPONSE_TO_INTERFERON_BETA;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_PROTEIN_POLYUBIQUITINATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_UBIQUITINATION;GO_ER_ASSOCIATED_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_RETROGRADE_PROTEIN_TRANSPORT_ER_TO_CYTOSOL;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_ERAD_PATHWAY;GO_ERAD_PATHWAY;GO_REGULATION_OF_PROTEIN_EXIT_FROM_ENDOPLASMIC_RETICULUM;GO_REGULATION_OF_TRANSPORT;GO_PROTEIN_K48_LINKED_UBIQUITINATION;GO_GLYCOSYLATION;GO_RESPONSE_TO_CYTOKINE;GO_PEPTIDYL_ASPARAGINE_MODIFICATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_REGULATION_OF_ERAD_PATHWAY;GO_PROTEOLYSIS;GO_CELLULAR_RESPONSE_TO_INTERFERON_BETA;GO_GLYCOPROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT	GO_ENDOPLASMIC_RETICULUM	GO_UBIQUITIN_LIKE_PROTEIN_TRANSFERASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS;KEGG_PARKINSONS_DISEASE	.	BIOCARTA_PARKIN_PATHWAY	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000184787-UBE2G2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 19.7	.	.	.
H	21	46271377	rs143718199	G	T	222	PASS	PTTG1IP	Pituitary tumor-transforming gene 1 protein-interacting protein	exonic	NM_001286822	.	missense SNV	PTTG1IP:NM_001286822:exon3:c.C334A:p.L112I	ENSG00000183255.11,ENST00000445724.3,ENST00000330938.7,ENST00000397887.7,ENST00000397886.3	.	21q22.3	.	.	.	.	.	rs143718199	.	.	0.00996678	0.0089	0.00479233	.	0.00260051	273792	0.01063944	18704	0.00582977	0.01408451	.	.	.	0.0,D	0.168,B	0.4,B	1,N	.	.	1.02,T	7.0663	-0.144	-0.015	.	.	.	VDB=0.163584;SGB=-0.693139;RPB=0.879146;MQB=3.34277e-11;MQSB=0.985701;BQB=0.871672;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=94;DP4=27,10,27,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/1:73:255,0,255:37,36	G	T	0	1	Pituitary tumor-transforming gene 1 protein-interacting protein, 603784	.	.	.	10781616|9570958|7581366	GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_TARGETING;GO_PROTEIN_IMPORT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NUCLEAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NUCLEAR_IMPORT;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_SINGLE_ORGANISM_CELLULAR_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	.	GO_P53_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000183255-PTTG1IP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 148.6	nucleus but not nucleoli	.	BP4
L-	21	46924419	rs775819509	CCCCCCCGG	C	218	PASS	COL18A1	Collagen XVIII, alpha-1 polypeptide	exonic	NM_030582,NM_130444,NM_130445	.	frameshift deletion	COL18A1:NM_030582:exon33:c.3358_3364del:p.P1120fs,COL18A1:NM_130444:exon33:c.4063_4069del:p.P1355fs,COL18A1:NM_130445:exon34:c.2818_2824del:p.P940fs	ENST00000355480.9,ENSG00000173638.18,ENST00000400337.6,ENST00000417954.5,ENST00000342220.9,ENST00000359759.8,ENST00000567670.5,ENSG00000182871.14	.	21q22.3	.	.	.	.	Score=23;Name="2831124:GC_rich(Low_complexity)"	rs775819509	.	.	.	.	.	.	0.00012526	55884	0.00048077	2080	0.00661221	0.00353982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00320257;SGB=-0.693136;MQSB=0.965393;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=3,2,22,13;IDV=2;IMF=0.0289855;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:41:.:.	0/0:50:.:.	0/0:50:.:.	0/0:35:.:.	0/0:43:.:.	0/0:36:.:.	0/0:47:.:.	0/1:40:255,0,40:5,35	CCCCCCCGG	C	0	1	Knobloch syndrome, type 1, 267750 (3), Autosomal recessive	.	.	.	23667181|1554013|11606364|20979194|11336704|17546652|17975799|20799329|12766032|14695535|21937992|9008168|7525077|8183893|8188291|19160445|8838808|8183894|9503365|10942434|17615292|12682293|15714516|12415512|15254016	GO_ENDOTHELIAL_CELL_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_SENSORY_PERCEPTION;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_RESPONSE_TO_ACID_CHEMICAL;GO_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_MULTICELLULAR_ORGANISMAL_MACROMOLECULE_METABOLIC_PROCESS;GO_ENDOTHELIAL_CELL_DIFFERENTIATION;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS;GO_ORGAN_MORPHOGENESIS;GO_BLOOD_VESSEL_MORPHOGENESIS;GO_ENDOTHELIUM_DEVELOPMENT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_MULTICELLULAR_ORGANISM_METABOLIC_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_SYSTEM_PROCESS;GO_VASCULATURE_DEVELOPMENT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_DRUG;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_CELL_DEATH;GO_EPITHELIAL_CELL_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_APOPTOTIC_PROCESS;GO_ANGIOGENESIS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_RESPONSE_TO_WATER;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_BIOLOGICAL_ADHESION;GO_TISSUE_DEVELOPMENT;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_EXTRACELLULAR_MATRIX;GO_ENDOPLASMIC_RETICULUM_PART;GO_BASEMENT_MEMBRANE;GO_PROTEINACEOUS_EXTRACELLULAR_MATRIX;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_EXTRACELLULAR_MATRIX_COMPONENT;GO_EXTRACELLULAR_SPACE;GO_ENDOPLASMIC_RETICULUM;GO_COLLAGEN_TRIMER	GO_IDENTICAL_PROTEIN_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	PID_INTEGRIN1_PATHWAY;PID_P53_DOWNSTREAM_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_HNF3A_PATHWAY	.	.	Cytoplasmic and nuclear expression in several different cell types.	http://www.proteinatlas.org/ENSG00000182871-COL18A1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 104.9	golgi apparatus	.	PVS1
H-	21	47957354	rs200136063	C	G	225	PASS	DIP2A	.	splicing	NM_001146115,NM_001146116,NM_015151,NM_206889,NM_206890,NM_206891	NM_001146115:exon14:c.1579-5C>G;NM_001146116:exon15:c.1696-5C>G;NM_015151:exon15:c.1708-5C>G;NM_206889:exon15:c.1708-5C>G;NM_206890:exon15:c.1708-5C>G;NM_206891:exon15:c.1708-5C>G	.	.	ENST00000473752.5,ENST00000400274.5,ENSG00000160305.17,ENST00000435722.7,ENST00000417564.2,ENST00000457905.7,ENST00000494435.5,ENST00000466639.5	.	21q22.3	.	.	.	.	.	rs200136063	.	.	0.00996678	0.0099	0.00199681	.	0.00072611	276818	0.00932697	18870	0.00932763	0.00792254	0.0001,0.03	-2.9115	.	.	.	.	.	.	.	.	.	-1.351	-0.118	.	.	.	VDB=0.00394018;SGB=-0.693147;MQSB=0.995714;MQ0F=0;MQ=45;DP=141;DP4=0,0,90,26;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:79:.:.	0/0:82:.:.	0/0:81:.:.	0/0:50:.:.	1/1:116:255,255,0:0,116	C	G	1	0	.	.	.	.	.	GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CELL_DEATH	GO_CELL_SURFACE	.	.	.	.	.	Moderate cytoplasmic positivity was observed in smooth muscle and myoepithelial cells in breast. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000160305-DIP2A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 8.8	nucleus	.	.
H	22	18095609	rs147042004	T	C	194	PASS	ATP6V1E1	ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1	exonic	NM_001039366,NM_001039367,NM_001696	.	missense SNV	ATP6V1E1:NM_001039366:exon3:c.A179G:p.K60R,ATP6V1E1:NM_001039367:exon4:c.A245G:p.K82R,ATP6V1E1:NM_001696:exon4:c.A245G:p.K82R	ENST00000484653.5,ENST00000413576.1,ENSG00000131100.12,ENST00000481365.5,ENST00000399796.6,ENST00000253413.9,ENST00000478963.5,ENST00000399798.6	.	22q11.21	.	.	.	.	.	rs147042004	.	.	0.0116279	0.0129	0.00379393	.	0.00112552	272762	0.01283560	18698	0.00835600	0.00352113	.	-0.1302	.	0.181,T	0.026,B	0.002,B	0.999997,D	0.000117,D	1.33,L	.	9.4317	1.899	5.702	2.207242,17.56	3.48	.	VDB=0.856621;SGB=-0.676189;RPB=0.911373;MQB=0.000869712;MQSB=0.967216;BQB=0.995748;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=29;DP4=7,5,8,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/1:23:227,0,255:12,11	T	C	0	1	Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive	.	.	.	8004105|12036578|9405660|11872743|28065471|8250920	GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_AUTOPHAGY;GO_CHEMICAL_HOMEOSTASIS;GO_RESPONSE_TO_PEPTIDE;GO_TRANSITION_METAL_ION_TRANSPORT;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_METAL_ION_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_HOMEOSTATIC_PROCESS;GO_PH_REDUCTION;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_IRON_ION_TRANSPORT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_CATION_TRANSPORT;GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_PHAGOSOME_MATURATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_PHAGOSOME_ACIDIFICATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_PH;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ION_HOMEOSTASIS;GO_ATP_HYDROLYSIS_COUPLED_TRANSMEMBRANE_TRANSPORT;GO_HYDROGEN_TRANSPORT;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_CELLULAR_HOMEOSTASIS;GO_REGULATION_OF_CELLULAR_PH;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_TRIVALENT_INORGANIC_CATION_TRANSPORT;GO_HYDROGEN_ION_TRANSMEMBRANE_TRANSPORT	GO_VACUOLE;GO_APICAL_PART_OF_CELL;GO_PROTON_TRANSPORTING_TWO_SECTOR_ATPASE_COMPLEX;GO_MICROVILLUS;GO_PROTON_TRANSPORTING_TWO_SECTOR_ATPASE_COMPLEX_CATALYTIC_DOMAIN;GO_VACUOLAR_PART;GO_MITOCHONDRION;GO_MEMBRANE_PROTEIN_COMPLEX;GO_APICAL_PLASMA_MEMBRANE;GO_PLASMA_MEMBRANE_REGION;GO_LYTIC_VACUOLE;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION;GO_LYTIC_VACUOLE_MEMBRANE;GO_MEMBRANE_REGION;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_BINDING;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROGEN_EXPORTING_ATPASE_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ENZYME_BINDING;GO_ATPASE_ACTIVITY;GO_TRANSPORTER_ACTIVITY	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	.	.	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT;REACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR	Cytoplasmic expression in most cell types, most abundant in renal tubules and pancreatic islet cells.	http://www.proteinatlas.org/ENSG00000131100-ATP6V1E1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 122.0	nucleus but not nucleoli	.	.
L	22	19188876	rs181471959	G	A	195	PASS	CLTCL1	Clathrin, heavy polypeptide-like 1	exonic	NM_001835,NM_007098	.	synonymous SNV	CLTCL1:NM_001835:exon23:c.C3729T:p.N1243N,CLTCL1:NM_007098:exon23:c.C3729T:p.N1243N	ENST00000615606.4,ENST00000622493.4,ENSG00000070371.15,ENST00000427926.5,ENST00000611723.1,ENST00000617103.4,ENST00000617926.4,ENST00000621271.4	.	22q11.21	.	.	.	.	.	rs181471959	.	.	0.013289	0.0109	0.00559105	.	0.00460325	275892	0.01289946	18838	0.01574038	0.01408451	.	0.0043	.	.	.	.	.	.	.	.	.	1.599	2.471	.	3.2	.	VDB=0.40887;SGB=-0.69311;RPB=0.9781;MQB=3.95105e-06;MQSB=0.563638;BQB=0.985406;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=73;DP4=25,2,30,1;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:51:.:.	0/0:52:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/1:58:228,0,255:27,30	G	A	0	1	Clathrin, heavy polypeptide-like 1, 601273	.	.	.	9147638|8733129|8844170|26068709|9405660|8733128|19478182	GO_REGULATION_OF_GLUCOSE_IMPORT;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_VESICLE_MEDIATED_TRANSPORT;GO_MITOTIC_CELL_CYCLE;GO_ORGANELLE_FISSION;GO_MITOTIC_NUCLEAR_DIVISION;GO_POSITIVE_REGULATION_OF_GLUCOSE_TRANSPORT;GO_CELL_CYCLE;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_GLUCOSE_TRANSPORT;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ENDOCYTOSIS;GO_CELL_CYCLE_PROCESS;GO_CYTOSOLIC_TRANSPORT	GO_MICROTUBULE_CYTOSKELETON;GO_VESICLE_MEMBRANE;GO_TRANS_GOLGI_NETWORK_TRANSPORT_VESICLE_MEMBRANE;GO_COATED_PIT;GO_VACUOLE;GO_GOLGI_ASSOCIATED_VESICLE_MEMBRANE;GO_VESICLE_COAT;GO_CLATHRIN_COAT;GO_CLATHRIN_COATED_VESICLE;GO_TRANS_GOLGI_NETWORK;GO_GOLGI_APPARATUS_PART;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_CLATHRIN_VESICLE_COAT;GO_GOLGI_ASSOCIATED_VESICLE;GO_GOLGI_MEMBRANE;GO_COATED_VESICLE_MEMBRANE;GO_LATE_ENDOSOME;GO_CLATHRIN_COATED_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_TRANS_GOLGI_NETWORK_TRANSPORT_VESICLE;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_GOLGI_APPARATUS;GO_SPINDLE;GO_TRANSPORT_VESICLE;GO_MEMBRANE_REGION;GO_RECYCLING_ENDOSOME;GO_COATED_MEMBRANE;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_TRANSPORT_VESICLE_MEMBRANE;GO_ORGANELLE_SUBCOMPARTMENT;GO_CLATHRIN_COAT_OF_TRANS_GOLGI_NETWORK_VESICLE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_LYSOSOME;KEGG_ENDOCYTOSIS;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_GAP_JUNCTION_DEGRADATION;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_GAP_JUNCTION_TRAFFICKING	.	http://www.proteinatlas.org/ENSG00000070371-CLTCL1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	bone marrow: 7.4	.	.	.
H	22	20073773	rs182736423	C	T	222	PASS	DGCR8	DiGeorge syndrome critical region gene 8	exonic	NM_001190326,NM_022720	.	missense SNV	DGCR8:NM_001190326:exon2:c.C287T:p.P96L,DGCR8:NM_022720:exon2:c.C287T:p.P96L	ENST00000351989.7,ENST00000495826.5,ENSG00000128191.15,ENST00000407755.1,ENST00000457069.1,ENST00000383024.6	CpG: 38	22q11.21	.	.	Score=865;Name=V$P300_01	.	.	rs182736423	.	.	0.00166113	0.001	0.000199681	.	0.00014432	277160	0.00185480	18870	0.00019433	.	.	-0.0228	.	0.0,D	0.998,D	1.0,D	1,D	0.000000,D	0.895,L	0.47,T	18.9994	2.826	7.295	6.549511,31	5.42	0.0558980656199	VDB=0.189615;SGB=-0.693147;RPB=0.99576;MQB=4.93472e-17;MQSB=0.819282;BQB=0.371918;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=175;DP4=43,27,34,25;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/1:129:255,0,255:70,59	C	T	0	1	DiGeorge syndrome critical region gene 8, 609030	.	.	.	24904170|15531877|15574589|16751099|20054295|12705904|18469815|18978791|17259983	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RNA_PROCESSING;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_NCRNA_PROCESSING;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_NCRNA_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_GENE_SILENCING;GO_POSTTRANSCRIPTIONAL_GENE_SILENCING;GO_CELLULAR_RESPONSE_TO_DSRNA;GO_DSRNA_FRAGMENTATION;GO_REGULATION_OF_STEM_CELL_PROLIFERATION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_DSRNA;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_GENE_SILENCING_BY_RNA;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RNA_PHOSPHODIESTER_BOND_HYDROLYSIS_ENDONUCLEOLYTIC	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOSKELETON;GO_ENDORIBONUCLEASE_COMPLEX;GO_CATALYTIC_COMPLEX;GO_NUCLEOLUS	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY_ACTIVE_WITH_EITHER_RIBO_OR_DEOXYRIBONUCLEIC_ACIDS_AND_PRODUCING_5_PHOSPHOMONOESTERS;GO_ENDORIBONUCLEASE_ACTIVITY_PRODUCING_5_PHOSPHOMONOESTERS;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_ENDONUCLEASE_ACTIVITY;GO_TETRAPYRROLE_BINDING;GO_DOUBLE_STRANDED_RNA_BINDING;GO_ENDORIBONUCLEASE_ACTIVITY;GO_RIBONUCLEASE_ACTIVITY;GO_RNA_BINDING	.	PID_P53_DOWNSTREAM_PATHWAY	.	REACTOME_MICRORNA_MIRNA_BIOGENESIS;REACTOME_REGULATORY_RNA_PATHWAYS	A majority of normal tissues displayed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000128191-DGCR8/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 13.2	nucleus but not nucleoli; cytoplasm	.	PM2, PP3
H	22	22868493	rs361666	G	A	225	PASS	ZNF280A	.	exonic	NM_080740	.	missense SNV	ZNF280A:NM_080740:exon2:c.C1462T:p.R488C	ENSG00000169548.3,ENST00000302097.3	.	22q11.22	.	.	.	.	.	rs361666	.	.	0.00664452	0.0119	0.00239617	.	0.00047376	276514	0.00674742	18822	0.00621842	0.00440141	.	.	.	0.001,D	0.593,P	0.995,D	0.994221,D	.	1.245,L	5.2,T	13.8754	2.372	4.886	5.550033,26.4	3.76	.	VDB=0.319551;SGB=-0.693147;MQSB=0.983401;MQ0F=0;MQ=39;RPB=0.950395;MQB=5.31174e-10;BQB=0.929908;ICB=1;HOB=0.5;DP=415;DP4=38,25,159,96;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:46:255,.,.:0,.	0/0:58:255,.,.:30,.	0/0:52:.:.	0/0:52:255,.,.:33,.	0/0:36:255,.,.:0,.	0/0:32:255,.,.:0,.	0/0:48:255,.,.:0,.	1/2:46:255,255,255,255,.,255:0,27,19	G	T,A	0	1	.	.	.	.	.	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_NEURON_PROJECTION_DEVELOPMENT;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_NEURON_PROJECTION_GUIDANCE;GO_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000169548-ZNF280A/tissue	FPKM<0.5 in all tissues <Not detected>	adrenal gland: 0.4	nucleus but not nucleoli	.	PP3
H	22	24382998	rs145950588	G	T	225	PASS	GSTT1	Glutathione S-transferase, theta-1	exonic	NM_001293807	.	missense SNV	GSTT1:NM_001293807:exon2:c.C196A:p.L66I	ENST00000248935.5,ENST00000447865.1,ENST00000439996.2,ENST00000458231.1,ENST00000417489.1,ENST00000417870.1,ENST00000486544.1,ENST00000480898.1,ENST00000417831.1,ENST00000428175.2,ENST00000418883.1,ENSG00000184674.8,ENST00000426209.1	.	22q11.23	.	.	.	.	.	rs145950588	.	.	0.0166113	0.0119	0.00279553	.	0.00158447	136954	0.02408412	5896	0.01868607	0.01408451	.	.	.	.	.	.	.	.	.	.	.	0.249	0.415	.	.	.	VDB=0.106748;SGB=-0.693141;MQSB=0.874406;MQ0F=0;MQ=45;DP=48;DP4=0,0,17,20;MinDP=30;AN=14;AC=2	GT:DP:PL:AD	0/0:30:.:.	./.:.:.:.	./.:.:.:.	0/0:50:.:.	0/0:30:.:.	0/0:52:.:.	0/0:30:.:.	0/0:30:.:.	1/1:37:255,111,0:0,37	G	T	1	0	Glutathione S-transferase, theta-1, 600436	.	.	.	9156696|8569364|20702223|11719393|8198545|2818198|8526747|11779261|8617495|10376772	GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_GLUTATHIONE_DERIVATIVE_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_DETOXIFICATION;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLUTATHIONE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE	.	GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYL_OTHER_THAN_METHYL_GROUPS;GO_GLUTATHIONE_PEROXIDASE_ACTIVITY;GO_GLUTATHIONE_TRANSFERASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR;GO_OXIDOREDUCTASE_ACTIVITY	KEGG_GLUTATHIONE_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	.	.	.	.	.	.	.	.
L	22	26879967	rs62226566	A	G	80	PASS	SRRD	SRR1 domain-containing protein	exonic	NM_001013694	.	synonymous SNV	SRRD:NM_001013694:exon1:c.A111G:p.R37R	ENST00000215917.11,ENSG00000100104.13	.	22q12.1	.	.	.	.	Score=23;Name="2853925:GC_rich(Low_complexity)"	rs62226566	.	.	.	.	.	.	0.00058480	35910	.	.	0.15640000	0.02589286	.	.	.	.	.	.	.	.	.	.	.	0.000	-1.023	.	.	.	VDB=0.0117389;SGB=-0.556411;RPB=0.124046;MQB=0.992367;MQSB=0.248092;BQB=0.992367;MQ0F=0;ICB=1;HOB=0.5;MQ=42;DP=18;DP4=3,3,5,2;MinDP=5;AN=8;AC=2	GT:DP:PL:AD	./.:.:.:.	0/0:5:.:.	0/1:8:113,0,97:4,4	0/0:5:.:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	./.:.:.:.	0/1:5:78,0,42:2,3	A	G	0	2	SRR1 domain-containing protein, 602254	.	.	.	8806657	GO_RHYTHMIC_PROCESS	.	.	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000100104-SRRD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	thyroid gland: 15.9	cytoplasm	.	BP7
L-	22	29885564	.	A	AGCAAAGTCCCCTGAGAAG	228	PASS	NEFH	Neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1935_1936insGCAAAGTCCCCTGAGAAG:p.E645delinsEAKSPEK	ENST00000310624.6,ENSG00000100285.9	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	0.00466382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.016688;SGB=-0.693145;MQSB=0.799334;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=542;DP4=49,63,126,101;IDV=2;IMF=0.00851064;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:167:.:.	0/0:101:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:121:255,.,.:81,.	0/0:101:.:.	0/0:101:.:.	2/2:218:255,.,.,80,.,0:31,.,187	A	AGAAAAGTACCCTGAGAAG,AGCAAAGTCCCCTGAGAAG	1	0	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant	.	.	.	9931323|8401507|7536898|9763431|7849698|9763415|3138108|3192217|9763429|27040688|8618684|8379998|9875737|8871580|8102569|9763430	GO_SPINAL_CORD_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_RESPONSE_TO_ESTRADIOL;GO_RESPONSE_TO_COCAINE;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELL_PROJECTION_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_REGENERATION;GO_RESPONSE_TO_AXON_INJURY;GO_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_AXON_REGENERATION;GO_MICROTUBULE_BASED_PROCESS;GO_FOREBRAIN_DEVELOPMENT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_ALKALOID;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_HIPPOCAMPUS_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_PERIPHERAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT;GO_RESPONSE_TO_ESTROGEN;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_FEMALE_SEX_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_RESPONSE_TO_LIPID;GO_HEAD_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_NEURON_PROJECTION_REGENERATION;GO_SEX_DIFFERENTIATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_RESPONSE_TO_ARSENIC_CONTAINING_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ESTROGEN_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ESTRADIOL_STIMULUS;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_SALT;GO_REGULATION_OF_TRANSPORT;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ALCOHOL;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS	GO_EXCITATORY_SYNAPSE;GO_INCLUSION_BODY;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_INTERMEDIATE_FILAMENT;GO_MYELIN_SHEATH;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_MITOCHONDRION;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_PERIKARYON;GO_SYNAPSE_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_TOXIC_SUBSTANCE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_BINDING_BRIDGING;GO_DYNEIN_BINDING;GO_KINESIN_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_ENZYME_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	Selective expression in CNS, peripheral nerves and glandular cells of prostate.	http://www.proteinatlas.org/ENSG00000100285-NEFH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	cerebral cortex: 18.9	nucleus; microtubule organizing center; centrosome	.	PM4
L-	22	29885588	.	G	GTCCCCTGAGAAGGCCAAT	228	PASS	NEFH	Neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1959_1960insTCCCCTGAGAAGGCCAAT:p.K653delinsKSPEKAN	ENSG00000100285.9,ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	0.00019433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=2.25293e-13;SGB=-0.693147;MQSB=0.994702;MQ0F=0;MQ=46;DP=278;DP4=14,2,106,111;IDV=2;IMF=0.00716846;MinDP=101;AN=16;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:108:.:.	0/0:211:.:.	0/0:108:.:.	./.:.:.:.	0/0:114:.:.	0/0:112:.:.	0/0:106:.:.	1/1:233:255,255,0:16,217	G	GTCCCCTGAGAAGGCCAAT	1	0	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant	.	.	.	9931323|8401507|7536898|9763431|7849698|9763415|3138108|3192217|9763429|27040688|8618684|8379998|9875737|8871580|8102569|9763430	GO_SPINAL_CORD_DEVELOPMENT;GO_NEURON_DEVELOPMENT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_INTERMEDIATE_FILAMENT_BASED_PROCESS;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_RESPONSE_TO_ESTRADIOL;GO_RESPONSE_TO_COCAINE;GO_INTERMEDIATE_FILAMENT_ORGANIZATION;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELL_PROJECTION_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_WOUNDING;GO_REGENERATION;GO_RESPONSE_TO_AXON_INJURY;GO_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_AXON_REGENERATION;GO_MICROTUBULE_BASED_PROCESS;GO_FOREBRAIN_DEVELOPMENT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_ALKALOID;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_HIPPOCAMPUS_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_PERIPHERAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_CEREBRAL_CORTEX_DEVELOPMENT;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PALLIUM_DEVELOPMENT;GO_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT;GO_RESPONSE_TO_ESTROGEN;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_FEMALE_SEX_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_RESPONSE_TO_LIPID;GO_HEAD_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_NEURON_PROJECTION_REGENERATION;GO_SEX_DIFFERENTIATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_RESPONSE_TO_ARSENIC_CONTAINING_SUBSTANCE;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_ESTROGEN_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_CELL_PROJECTION_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ESTRADIOL_STIMULUS;GO_NEURON_DIFFERENTIATION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_SALT;GO_REGULATION_OF_TRANSPORT;GO_REPRODUCTION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_TELENCEPHALON_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ALCOHOL;GO_LIMBIC_SYSTEM_DEVELOPMENT;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS	GO_EXCITATORY_SYNAPSE;GO_INCLUSION_BODY;GO_NEURON_PART;GO_POSTSYNAPSE;GO_AXON;GO_NEURONAL_POSTSYNAPTIC_DENSITY;GO_INTERMEDIATE_FILAMENT;GO_MYELIN_SHEATH;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SYNAPSE;GO_NEURON_PROJECTION;GO_MITOCHONDRION;GO_SUPRAMOLECULAR_FIBER;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_CELL_BODY;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_PERIKARYON;GO_SYNAPSE_PART	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_KINASE_BINDING;GO_TOXIC_SUBSTANCE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_BINDING_BRIDGING;GO_DYNEIN_BINDING;GO_KINESIN_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_ENZYME_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	Selective expression in CNS, peripheral nerves and glandular cells of prostate.	http://www.proteinatlas.org/ENSG00000100285-NEFH/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	cerebral cortex: 18.9	nucleus; microtubule organizing center; centrosome	.	PM4
H	22	30689749	rs139812230	G	A	222	PASS	TBC1D10A	TBC1 domain family, member 10A	exonic	NM_001204240,NM_031937	.	missense SNV	TBC1D10A:NM_001204240:exon8:c.C962T:p.A321V,TBC1D10A:NM_031937:exon8:c.C941T:p.A314V	ENST00000434291.5,ENST00000467596.5,ENST00000462073.5,ENST00000215790.11,ENST00000466666.5,ENSG00000248751.6,ENST00000433426.5,ENST00000418047.5,ENSG00000099992.15,ENST00000447976.1,ENST00000330168.9,ENST00000434987.5,ENST00000403477.7,ENST00000403362.5	.	22q12.2	.	.	.	.	.	rs139812230	.	.	0.0215947	0.0228	0.00459265	.	0.00125748	276744	0.01781359	18862	0.01146522	0.01060071	.	-1.4674	Rab-GTPase-TBC domain	0.015,D	0.104,B	0.386,B	0.825656,D	0.000022,D	1.46,L	3.08,T	15.7656	2.746	5.026	4.445706,24.2	4.4	.	VDB=0.681606;SGB=-0.693147;RPB=0.658718;MQB=8.54952e-18;MQSB=0.681393;BQB=0.509866;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=157;DP4=48,16,51,10;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:101:.:.	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:51:.:.	0/0:100:.:.	0/1:125:255,0,255:64,61	G	A	0	1	TBC1 domain family, member 10A, 610020	.	.	.	16923811|11285285	GO_REGULATION_OF_VESICLE_FUSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_PROTEIN_MATURATION;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_VACUOLAR_TRANSPORT;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_VESICLE_MEDIATED_TRANSPORT;GO_ACTIVATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_CILIUM_ASSEMBLY;GO_PROTEIN_LOCALIZATION;GO_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_ZYMOGEN_ACTIVATION;GO_PROTEOLYSIS;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_CYTOSOLIC_TRANSPORT	GO_MICROVILLUS;GO_ACTIN_BASED_CELL_PROJECTION;GO_CELL_PROJECTION	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_GTPASE_BINDING	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000099992-TBC1D10A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	esophagus: 22.6	.	.	PM1
L	22	31289225	rs184571641	G	A	222	PASS	OSBP2	Oxysterol-binding protein 2	exonic	NM_001282738,NM_001282739,NM_001282740,NM_001282741,NM_001282742,NM_030758	.	synonymous SNV	OSBP2:NM_001282742:exon7:c.G618A:p.P206P,OSBP2:NM_001282740:exon8:c.G885A:p.P295P,OSBP2:NM_001282741:exon8:c.G1212A:p.P404P,OSBP2:NM_001282739:exon9:c.G1983A:p.P661P,OSBP2:NM_030758:exon9:c.G1986A:p.P662P,OSBP2:NM_001282738:exon10:c.G1488A:p.P496P	ENST00000401475.5,ENST00000496575.1,ENST00000437268.6,ENST00000446658.6,ENST00000452656.5,ENST00000407373.5,ENST00000438716.3,ENST00000403222.7,ENSG00000184792.15,ENST00000431368.5,ENST00000535268.5,ENST00000332585.10	.	22q12.2	.	.	.	.	.	rs184571641	.	.	0.00498339	0.0099	0.00239617	.	0.00076171	277010	0.01065409	18866	0.00505247	0.00440917	.	-0.7576	.	.	.	.	1,D	.	.	.	4.5273	-1.565	-3.352	.	.	.	VDB=0.154467;SGB=-0.693147;RPB=0.853995;MQB=0.972527;MQSB=0.995045;BQB=0.40036;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=143;DP4=31,14,35,23;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:103:255,0,255:45,58	G	A	0	1	Oxysterol-binding protein 2, 606729	.	.	.	24742681|11278871	GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_SPERMATID_DIFFERENTIATION;GO_LIPID_LOCALIZATION;GO_REPRODUCTION;GO_GERM_CELL_DEVELOPMENT;GO_CELL_DEVELOPMENT;GO_MULTICELLULAR_ORGANISM_REPRODUCTION	GO_NEURON_PART;GO_APICAL_DENDRITE;GO_NEURON_PROJECTION;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_DENDRITE	GO_STEROID_BINDING;GO_ALCOHOL_BINDING;GO_STEROL_BINDING;GO_LIPID_BINDING	.	.	.	.	Most normal tissues showed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000184792-OSBP2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	cerebral cortex: 10.5	cytoplasm	.	BP7
L	22	31662010	rs2229875	C	T	222	PASS	LIMK2	LIM domain kinase 2	exonic	NM_001031801,NM_005569,NM_016733	.	synonymous SNV	LIMK2:NM_001031801:exon7:c.C870T:p.R290R,LIMK2:NM_016733:exon7:c.C870T:p.R290R,LIMK2:NM_005569:exon8:c.C933T:p.R311R	ENSG00000182541.17,ENST00000333611.8,ENST00000465937.1,ENST00000340552.4,ENST00000406516.5,ENST00000331728.8	.	22q12.2	.	.	.	.	.	rs2229875	.	.	0.0166113	0.0119	0.00259585	0.0005	0.00167013	277224	0.01314395	18868	0.01127089	0.01408451	.	0.0246	.	.	.	.	.	.	.	.	.	0.275	0.486	1.734945,14.61	.	.	VDB=0.00591343;SGB=-0.693147;RPB=0.481151;MQB=7.89824e-19;MQSB=0.32918;BQB=0.849742;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=178;DP4=44,27,28,36;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:101:.:.	0/0:102:.:.	0/0:101:.:.	0/0:101:.:.	0/0:100:.:.	0/1:135:255,0,255:71,64	C	T	0	1	LIM domain kinase 2, 601988	.	.	.	10436159|8537403|8954941	GO_MALE_GAMETE_GENERATION;GO_SEXUAL_REPRODUCTION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_PHOSPHORYLATION	GO_CIS_GOLGI_NETWORK	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ZINC_ION_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_RHOA_PATHWAY;PID_CDC42_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	General cytoplasmic and nuclear expression at variable levels.	http://www.proteinatlas.org/ENSG00000182541-LIMK2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	placenta: 42.6	.	.	BP7
H	22	32017116	.	T	A	222	PASS	PISD	Phosphatidylserine decarboxylase	exonic	NM_001326411,NM_001326412,NM_001326413,NM_001326414,NM_001326415,NM_001326416,NM_001326417,NM_001326418,NM_001326419,NM_001326420,NM_001326421,NM_014338,NM_178022	.	missense SNV	PISD:NM_001326418:exon5:c.A530T:p.D177V,PISD:NM_001326420:exon5:c.A530T:p.D177V,PISD:NM_001326411:exon6:c.A710T:p.D237V,PISD:NM_001326412:exon6:c.A647T:p.D216V,PISD:NM_001326413:exon6:c.A647T:p.D216V,PISD:NM_001326421:exon6:c.A710T:p.D237V,PISD:NM_178022:exon6:c.A608T:p.D203V,PISD:NM_001326414:exon7:c.A647T:p.D216V,PISD:NM_001326415:exon7:c.A608T:p.D203V,PISD:NM_014338:exon7:c.A608T:p.D203V,PISD:NM_001326417:exon8:c.A608T:p.D203V,PISD:NM_001326419:exon8:c.A608T:p.D203V,PISD:NM_001326416:exon9:c.A608T:p.D203V	ENST00000397500.5,ENST00000266095.9,ENST00000478893.5,ENST00000474017.5,ENST00000473770.5,ENST00000439502.6,ENSG00000241878.11,ENST00000437808.5,ENST00000382151.6,ENST00000435900.5,ENST00000491342.1,ENST00000422020.5,ENST00000460723.5	.	22q12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6228	.	0.061,T	0.102,B	0.076,B	0.998049,N	0.489497,N	1.62,L	.	5.3397	0.022	0.128	1.582297,13.75	.	0.00579199309129	VDB=0.0650862;SGB=-0.693147;RPB=0.197683;MQB=2.91524e-15;MQSB=0.901635;BQB=0.868745;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=154;DP4=40,16,36,17;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:102:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:51:.:.	0/0:100:.:.	0/0:100:.:.	0/1:109:255,0,255:56,53	T	A	0	1	Phosphatidylserine decarboxylase, 612770	.	.	.	10591208|17478478|2007589|19165886|16192276	GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_CARBOXY_LYASE_ACTIVITY;GO_CARBON_CARBON_LYASE_ACTIVITY;GO_LYASE_ACTIVITY	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM	PID_HNF3A_PATHWAY	.	.	Ubiquitous cytoplasmic and membranous expression.	http://www.proteinatlas.org/ENSG00000241878-PISD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adipose tissue: 23.0	cytoplasm; golgi apparatus	.	PM2
H	22	32110673	rs182090439	C	A	222	PASS	PRR14L	.	exonic	NM_173566	.	missense SNV	PRR14L:NM_173566:exon4:c.G3152T:p.G1051V	ENSG00000183530.13,ENST00000327423.10	.	22q12.2	.	.	.	.	.	rs182090439	.	.	0.00830565	0.005	0.000998403	.	0.00055404	184102	0.00859889	11862	0.00233191	0.00176367	.	-0.0727	.	0.001,D	0.2,B	0.741,P	1,N	0.309070,N	1.735,L	3.24,T	8.0551	0.027	0.144	2.340350,18.43	.	0.0797718406009	VDB=0.600294;SGB=-0.693139;RPB=0.488412;MQB=3.47329e-11;MQSB=0.998369;BQB=0.757792;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=98;DP4=23,14,23,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:73:255,0,255:37,36	C	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Respiratory epithelia, gall bladder and salivary ducts displayed moderate membranous and cytoplasmic positivity while moderate cytoplasmic positivity was observed in neuronal cells and renal tubules. Remaining normal tissues were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000183530-PRR14L/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	tonsil: 6.0	nucleus but not nucleoli	.	.
H*	22	32253491	rs753608617	G	C	222	PASS	DEPDC5	DEP domain-containing protein 5	exonic	NM_001136029,NM_001242896,NM_001242897,NM_014662	.	missense SNV	DEPDC5:NM_001242897:exon30:c.G2982C:p.E994D,DEPDC5:NM_001136029:exon31:c.G3189C:p.E1063D,DEPDC5:NM_014662:exon31:c.G3189C:p.E1063D,DEPDC5:NM_001242896:exon32:c.G3216C:p.E1072D	ENST00000494060.1,ENST00000448753.5,ENST00000400248.6,ENST00000433147.1,ENST00000535622.5,ENST00000400249.6,ENST00000382112.7,ENST00000382111.6,ENSG00000100150.16,ENST00000400246.5	.	22q12.3	.	.	.	.	.	rs753608617	.	.	.	.	.	.	0.00000413	242122	0.00005832	17148	.	.	.	0.5751	.	0.037,D	.	.	1,D	0.000021,D	.	1.35,T	9.2213	1.403	1.121	2.564727,19.88	4.66	0.0173054131407	VDB=0.000986862;SGB=-0.692067;RPB=0.55556;MQB=9.54016e-06;MQSB=0.860095;BQB=0.99308;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=67;DP4=15,9,11,9;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:44:255,0,255:24,20	G	C	0	1	Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant	.	.	.	23723238|25623524|15329069|14510823|23542697|27626380|23542701|9734811|22780917|24283814|21725309|10825362|24814846|24585383|9851433|10577924	GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TOR_SIGNALING;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_CELLULAR_RESPONSE_TO_AMINO_ACID_STARVATION;GO_REGULATION_OF_TOR_SIGNALING;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_RESPONSE_TO_STARVATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION	GO_PERINUCLEAR_REGION_OF_CYTOPLASM;GO_VACUOLE;GO_VACUOLAR_PART;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_VACUOLAR_MEMBRANE	GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Low cytoplasmic expression in glandular tissues.	http://www.proteinatlas.org/ENSG00000100150-DEPDC5/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 12.4	golgi apparatus	.	PM2
H	22	32617002	rs74530943	C	T	222	PASS	SLC5A4	.	exonic	NM_014227	.	missense SNV	SLC5A4:NM_014227:exon14:c.G1673A:p.R558H	ENSG00000242082.1,ENSG00000100191.5,ENST00000434942.1,ENST00000266086.5	.	22q12.3	.	.	Score=863;Name=V$GRE_C	.	.	rs74530943	.	.	0.0149502	0.0149	0.00938498	0.0020	0.00482834	277114	0.02300679	18864	0.02215313	0.01672535	.	-2.1726	.	0.067,T	0.077,B	0.396,B	0.999979,D	0.000003,D	3.795,H	-1.54,D	10.1909	1.109	4.286	6.279311,29.0	3.48	.	VDB=0.163924;SGB=-0.651104;RPB=0.806517;MQB=0.0211283;MQSB=0.165411;BQB=0.489178;MQ0F=0;ICB=1;HOB=0.5;MQ=44;DP=90;DP4=24,13,14,11;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:195,0,255:20:12,8	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/0:.:30:.	0/1:255,0,255:42:25,17	C	T	0	2	.	.	.	.	.	GO_ION_TRANSPORT;GO_CARBOHYDRATE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_CARBOHYDRATE_TRANSMEMBRANE_TRANSPORT;GO_MONOSACCHARIDE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOSACCHARIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_SOLUTE_SODIUM_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000100191-SLC5A4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 1.1	.	.	.
H	22	32630946	rs76877500	G	A	222	PASS	SLC5A4	.	exonic	NM_014227	.	stopgain	SLC5A4:NM_014227:exon8:c.C799T:p.R267X	ENSG00000242082.1,ENSG00000100191.5,ENST00000434942.1,ENST00000266086.5	.	22q12.3	.	.	.	.	.	rs76877500	.	.	0.0149502	0.0149	0.0081869	0.0003	0.00324839	277060	0.02294648	18870	0.02176448	0.01763668	.	-81.0928	.	.	.	.	1,A	0.000009,D	.	.	15.6522	2.640	3.302	11.620215,37	4.77	.	VDB=0.129966;SGB=-0.690438;RPB=0.266176;MQB=2.64178e-06;MQSB=0.410896;BQB=0.915044;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=136;DP4=42,16,30,11;MinDP=30;AN=18;AC=2	GT:PL:DP:AD	0/1:234,0,255:45:28,17	0/0:.:50:.	0/0:.:50:.	0/0:.:50:.	0/0:.:30:.	0/0:.:51:.	0/0:.:50:.	0/0:.:50:.	0/1:255,0,255:54:30,24	G	A	0	2	.	.	.	.	.	GO_ION_TRANSPORT;GO_CARBOHYDRATE_TRANSPORT;GO_METAL_ION_TRANSPORT;GO_MONOVALENT_INORGANIC_CATION_TRANSPORT;GO_CATION_TRANSPORT;GO_CARBOHYDRATE_TRANSMEMBRANE_TRANSPORT;GO_MONOSACCHARIDE_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT;GO_SODIUM_ION_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOSACCHARIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CARBOHYDRATE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SOLUTE_CATION_SYMPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_SOLUTE_SODIUM_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_SODIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000100191-SLC5A4/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	lung: 1.1	.	.	PP3
H	22	36591401	rs761768565	G	T	222	PASS	APOL4	Apolipoprotein L4	exonic	NM_030643,NM_145660	.	unknown	UNKNOWN	ENSG00000100336.17,ENST00000457630.6,ENST00000493203.6,ENST00000613247.4,ENST00000449084.2,ENST00000352371.5,ENST00000616056.4,ENST00000332987.5,ENST00000419360.5	.	22q12.3	.	.	.	.	.	rs761768565	.	.	.	.	.	.	0.00004330	277150	0.00063620	18862	0.00019433	.	.	-3.0326	.	0.005,D	0.022,B	0.127,B	1,N	0.433599,N	.	0.63,T	3.1766	-1.624	-1.680	1.178228,11.63	.	0.0022481840035	VDB=0.410769;SGB=-0.692831;RPB=0.697457;MQB=5.56824e-08;MQSB=0.965761;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=83;DP4=21,16,15,9;MinDP=31;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:61:255,0,255:37,24	G	T	0	1	{Schizophrenia}, 181500 (1), Autosomal dominant	.	.	.	11290834|11930015|11944986|11374903	GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_LIPID_LOCALIZATION	GO_EXTRACELLULAR_SPACE	GO_LIPID_BINDING	.	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity with occasional nuclear staining. Myocytes in skeletal muscles exhibited strong cytoplasmic immunoreactivity. Plasma were distinctly stained. Lymphoid tissues, soft tissues, lung, liver, skin and breast were negative.	http://www.proteinatlas.org/ENSG00000100336-APOL4/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	prostate: 13.3	vesicles	.	PM2
H	22	37524683	rs148074427	G	A	222	PASS	IL2RB	Interleukin-2 receptor, beta polypeptide	exonic	NM_000878,NM_001346222,NM_001346223	.	missense SNV	IL2RB:NM_000878:exon10:c.C1109T:p.P370L,IL2RB:NM_001346222:exon10:c.C1109T:p.P370L,IL2RB:NM_001346223:exon10:c.C1109T:p.P370L	ENST00000483573.1,ENSG00000100385.13,ENST00000216223.9	.	22q12.3	.	.	.	.	.	rs148074427	.	.	0.00830565	0.0079	0.00159744	7.7e-05	0.00020207	277132	0.00243799	18868	0.00349786	.	.	.	.	0.002,D	0.975,D	1.0,D	0.999121,D	0.225761,N	2.08,M	2.7,T	10.3603	1.125	4.416	6.406614,29.6	3.79	0.0141670355191	VDB=0.310014;SGB=-0.693147;RPB=0.881597;MQB=2.81599e-17;MQSB=0.99601;BQB=0.880552;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=337;DP4=83,51,77,43;MinDP=82;AN=18;AC=2	GT:DP:PL:AD	0/0:97:.:.	0/0:103:.:.	0/1:129:255,0,255:62,67	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:82:.:.	0/1:125:255,0,255:72,53	G	A	0	2	Interleukin-2 receptor, beta polypeptide, 146710	.	.	.	1733860|11238664|20548035|8026467|2333293|2785715|11014194|11463390|1973832|7770771|2467293|16293754	GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_ACTIVATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_NATURAL_KILLER_CELL_ACTIVATION;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RESPONSE_TO_CYTOKINE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_GTPASE_ACTIVITY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_SIDE_OF_MEMBRANE;GO_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_CYTOKINE_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_RECEPTOR_ACTIVITY;GO_CYTOKINE_RECEPTOR_ACTIVITY;GO_GROWTH_FACTOR_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL12_2PATHWAY;PID_SHP2_PATHWAY;PID_IL2_1PATHWAY;PID_IL2_PI3K_PATHWAY;PID_IL2_STAT5_PATHWAY;PID_CD8_TCR_DOWNSTREAM_PATHWAY	BIOCARTA_IL2_PATHWAY;BIOCARTA_IL2RB_PATHWAY	REACTOME_SIGNALING_BY_ILS;REACTOME_IL_3_5_AND_GM_CSF_SIGNALING;REACTOME_IL_RECEPTOR_SHC_SIGNALING;REACTOME_IL_2_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	Selective cytoplasmic expression in a subset of immune cells.	http://www.proteinatlas.org/ENSG00000100385-IL2RB/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 29.2	nucleus; nucleoli	.	BS2
L	22	37906307	.	GGCTCCT	G	228	PASS	CARD10	Caspase recruitment domain-containing protein 10	exonic	NM_014550	.	nonframeshift deletion	CARD10:NM_014550:exon4:c.815_820del:p.272_274del	ENST00000494166.1,ENST00000403299.5,ENST00000476871.5,ENST00000251973.9,ENSG00000100065.14,ENST00000437756.5	.	22q13.1	.	.	.	.	Score=315;Name="2880164:(TTCTCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.00524883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.00162173;SGB=-0.693147;MQSB=0.903368;MQ0F=0;MQ=49;DP=340;DP4=40,0,181,105;IDV=3;IMF=0.00879765;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:102:.:.	1/1:326:255,255,0:40,286	GGCTCCT	G	1	0	Caspase recruitment domain-containing protein 10, 607209	.	.	.	11356195|17438001|11387339|11259443	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_ACTIVATION_OF_NF_KAPPAB_INDUCING_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_NIK_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_NIK_NF_KAPPAB_SIGNALING;GO_NIK_NF_KAPPAB_SIGNALING;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_CELL_DEATH;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS	.	GO_PROTEIN_COMPLEX_SCAFFOLD;GO_RECEPTOR_SIGNALING_COMPLEX_SCAFFOLD_ACTIVITY;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000100065-CARD10/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	small intestine: 24.1	vesicles; cytoskeleton (intermediate filaments); cytoplasm	.	BP3
H	22	38131069	rs200113910	C	T	222	PASS	TRIOBP	Trio- and F-actin-binding protein	exonic	NM_001039141	.	missense SNV	TRIOBP:NM_001039141:exon9:c.C4726T:p.R1576C	ENST00000406386.7,ENSG00000100106.19,ENST00000344404.10	.	22q13.1	.	.	Score=790;Name=V$PAX5_01	.	.	rs200113910	.	.	0.00332226	0.003	0.000798722	8.3e-05	0.00054031	273916	0.00654813	18784	0.00855033	0.01241135	.	0.0528	.	0.001,D	0.015,B	0.141,B	1,N	.	1.67,L	1.73,T	4.9177	0.279	0.186	4.099330,23.7	.	0.0102133420611	VDB=0.000153343;SGB=-0.693147;RPB=0.843449;MQB=3.45921e-21;MQSB=0.989068;BQB=0.441791;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=200;DP4=48,46,32,28;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/1:154:255,0,255:94,60	C	T	0	1	Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive	.	.	.	11258795|20510926|16385457|11148140|16385458	GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELL_DIVISION;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CYTOSKELETON_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_BARBED_END_ACTIN_FILAMENT_CAPPING;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_REGULATION_OF_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING;GO_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_ORGANELLE_FISSION;GO_POSITIVE_REGULATION_OF_CELL_ADHESION;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION	GO_MICROTUBULE_CYTOSKELETON;GO_ACTIN_CYTOSKELETON;GO_CELL_JUNCTION;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_CELL_SUBSTRATE_JUNCTION;GO_MIDBODY;GO_ANCHORING_JUNCTION;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_ACTIN_BINDING;GO_ACTIN_FILAMENT_BINDING;GO_RHO_GTPASE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING;GO_GTP_RHO_BINDING;GO_ENZYME_BINDING;GO_MYOSIN_BINDING;GO_GTPASE_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	Cytoplasmic expression at variable levels in most tissues.	http://www.proteinatlas.org/ENSG00000100106-TRIOBP/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 42.5	cytoplasm	.	BP1
M	22	38204005	rs931131060	C	G	145	PASS	GCAT	Glycine C-acetyltransferase	exonic	NM_001171690,NM_014291	.	missense SNV	GCAT:NM_001171690:exon1:c.C31G:p.L11V,GCAT:NM_014291:exon1:c.C31G:p.L11V	ENST00000248924.10,ENST00000478203.1,ENST00000426858.1,ENST00000445195.5,ENSG00000100116.16,ENST00000415371.1,ENST00000323205.10	CpG: 64	22q13.1	.	.	.	.	.	rs931131060	.	.	.	.	.	.	0.00000741	135020	.	.	.	.	.	.	.	0.113,T	0.006,B	0.018,B	1,N	0.467012,N	1.5,L	-1.87,D	6.5591	0.682	-0.749	.	2.52	0.0565767177062	VDB=0.452509;SGB=-0.651104;RPB=0.855161;MQB=0.0967458;MQSB=0.997847;BQB=0.920573;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=40;DP4=18,2,6,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:28:178,0,255:20,8	C	G	0	1	Glycine C-acetyltransferase, 607422	.	.	.	10712613	GO_CELLULAR_CATABOLIC_PROCESS;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ALPHA_AMINO_ACID_CATABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_CATABOLIC_PROCESS;GO_CELLULAR_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_ASPARTATE_FAMILY_AMINO_ACID_CATABOLIC_PROCESS;GO_ORGANIC_ACID_CATABOLIC_PROCESS;GO_GLYCINE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ASPARTATE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_SERINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_ORGANELLE_INNER_MEMBRANE;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	GO_ACETYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_PYRIDOXAL_PHOSPHATE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_COFACTOR_BINDING;GO_C_ACYLTRANSFERASE_ACTIVITY	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM	.	.	.	Most normal tissues showed weak to moderate cytoplasmic positivity. Strong positivity was observed in gall bladder, Leydig cells in testis and subsets of cells in stomach.	http://www.proteinatlas.org/ENSG00000100116-GCAT/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	pancreas: 29.2	nucleus but not nucleoli; mitochondria	.	PM2
L	22	38341167	.	C	T	222	PASS	C22orf23	.	exonic	NM_001207062,NM_032561	.	synonymous SNV	C22orf23:NM_001207062:exon4:c.G300A:p.K100K,C22orf23:NM_032561:exon5:c.G363A:p.K121K	ENST00000249079.6,ENSG00000128346.10,ENST00000403305.5,ENST00000403026.5,ENST00000619227.4,ENST00000418863.5	.	22q13.1	.	.	Score=792;Name=V$ISRE_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4234	.	.	.	.	.	.	.	.	.	0.594	1.134	2.030773,16.41	.	.	VDB=0.364723;SGB=-0.692562;RPB=0.187877;MQB=9.42212e-07;MQSB=0.427557;BQB=0.747263;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=74;DP4=16,18,13,9;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:52:.:.	0/0:52:.:.	0/0:50:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/1:56:255,0,255:34,22	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	RNA characterization data suggests expression in testis. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000128346-C22orf23/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	fallopian tube: 12.5	.	.	BP7, PM2
H-	22	38493186	rs533864050	C	T	222	PASS	BAIAP2L2	Bai1-associated protein 2-like 2	splicing	NM_025045	NM_025045:exon7:c.466-1G>A	.	.	ENSG00000128298.16,ENST00000381669.7,ENST00000332536.9	.	22q13.1	.	.	Score=844;Name=V$GRE_C	.	.	rs533864050	.	.	0	.	0.000199681	.	0.00005852	273426	0.00070081	18550	0.00194401	0.00440141	1.0000,0.918	-5.0552	.	.	.	.	1,D	.	.	.	18.1737	2.368	3.304	4.824686,24.8	4.78	.	VDB=0.00897884;SGB=-0.693132;RPB=0.512056;MQB=3.18053e-06;MQSB=0.227799;BQB=0.694259;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=75;DP4=6,24,6,28;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:31:.:.	0/0:52:.:.	0/0:30:.:.	0/0:60:.:.	0/0:30:.:.	0/0:37:.:.	0/0:43:.:.	0/0:50:.:.	0/1:64:255,0,255:30,34	C	T	0	1	Bai1-associated protein 2-like 2, 617536	.	.	.	21743456	GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_ACTIN_FILAMENT_BUNDLE_ORGANIZATION;GO_RESPONSE_TO_PEPTIDE;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_POSITIVE_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_REGULATION_OF_ACTIN_FILAMENT_LENGTH;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_RESPONSE_TO_INSULIN;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_RESPONSE_TO_HORMONE;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_INSULIN_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_ACTIN_CYTOSKELETON_REORGANIZATION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_CELLULAR_RESPONSE_TO_PEPTIDE;GO_ACTIN_FILAMENT_ORGANIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION	GO_CELL_CELL_CONTACT_ZONE;GO_VESICLE_MEMBRANE;GO_ACTIN_CYTOSKELETON;GO_CLATHRIN_COAT;GO_CELL_JUNCTION;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CELL_CELL_JUNCTION;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_MEMBRANE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_CYTOSKELETAL_ADAPTOR_ACTIVITY;GO_BINDING_BRIDGING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING	.	.	.	.	Most normal cells showed moderate to strong cytoplasmic positivity.	http://www.proteinatlas.org/ENSG00000128298-BAIAP2L2/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	colon: 17.5	.	.	PM2, PP3
H	22	38902067	rs147903850	G	A	222	PASS	DDX17	DEAD/H box-17	exonic	NM_001098504,NM_006386	.	missense SNV	DDX17:NM_001098504:exon1:c.C176T:p.P59L,DDX17:NM_006386:exon1:c.C176T:p.P59L	ENSG00000100201.20,ENST00000479734.1,ENST00000403230.1,ENST00000396821.7,ENST00000640668.1,ENST00000216019.11,ENST00000432525.5,ENST00000640332.1	CpG: 149	22q13.1	.	.	.	.	.	rs147903850	.	.	0.0166113	0.0179	0.00359425	.	0.00163628	219400	0.02316273	15240	0.02176448	0.01146384	.	.	.	0.01,D	0.059,B	0.221,B	1,D	0.523907,N	0,N	1.67,T	12.873	1.264	1.097	5.943981,27.6	4.07	.	VDB=0.0539362;SGB=-0.693143;RPB=0.15889;MQB=1.52595e-11;MQSB=0.780677;BQB=0.266328;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=91;DP4=33,4,34,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:32:.:.	0/0:51:.:.	0/0:51:.:.	0/0:51:.:.	0/0:47:.:.	0/0:31:.:.	0/0:30:.:.	0/0:31:.:.	0/1:75:255,0,255:37,38	G	A	0	1	DEAD/H box-17, 608469	.	.	.	17011493|12138182|8871553|12193588|11675387	GO_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_SKELETAL_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_RNA_PROCESSING;GO_REGULATION_OF_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RNA_SECONDARY_STRUCTURE_UNWINDING;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEOLUS	GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_HORMONE_RECEPTOR_BINDING;GO_ESTROGEN_RECEPTOR_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_RNA_HELICASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_RECEPTOR_BINDING;GO_RNA_BINDING	.	PID_ERA_GENOMIC_PATHWAY	.	.	Nuclear expression in most tissues.	http://www.proteinatlas.org/ENSG00000100201-DDX17/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	endometrium: 171.2	nucleus but not nucleoli	.	.
L	22	39016223	rs776819048	G	A	176	PASS	FAM227A	.	exonic	NM_001013647,NM_001291030	.	synonymous SNV	FAM227A:NM_001013647:exon11:c.C1032T:p.H344H,FAM227A:NM_001291030:exon11:c.C753T:p.H251H	ENST00000541689.6,ENSG00000184949.15,ENST00000543295.1,ENST00000355830.10,ENST00000544346.5,ENST00000540952.5,ENST00000535113.5	.	22q13.1	.	.	.	.	.	rs776819048	.	.	.	.	.	.	0.00000662	151136	0.00009779	10226	.	.	.	-0.0916	.	.	.	.	.	.	.	.	.	0.351	0.124	.	.	.	VDB=0.127291;SGB=-0.688148;RPB=0.684303;MQB=1.86979e-05;MQSB=0.588643;BQB=0.952765;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=35;DP4=12,3,13,2;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:13:.:.	0/0:16:.:.	0/0:30:.:.	0/0:30:.:.	0/0:17:.:.	0/0:19:.:.	0/0:10:.:.	0/0:10:.:.	0/1:30:209,0,255:15,15	G	A	0	1	.	.	.	.	.	.	.	.	.	.	.	.	Most normal cells showed moderate to strong cytoplasmic and nuclear positivity.	http://www.proteinatlas.org/ENSG00000184949-FAM227A/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	thyroid gland: 0.6	nucleus but not nucleoli	.	BP7, PM2
H	22	39621834	rs779029549	C	T	222	PASS	PDGFB	Platelet-derived growth factor, beta polypeptide (oncogene SIS)	exonic	NM_002608,NM_033016	.	missense SNV	PDGFB:NM_002608:exon6:c.G620A:p.R207Q,PDGFB:NM_033016:exon6:c.G575A:p.R192Q	ENST00000331163.10,ENSG00000100311.16,ENST00000381551.8	.	22q13.1	.	.	Score=825;Name=V$AHR_01	.	.	rs779029549	.	.	.	.	.	.	0.00002169	276604	0.00010641	18796	.	.	.	-0.3793	.	0.09,T	0.128,B	0.89,P	0.853116,N	0.152314,N	1.845,L	0.92,T	7.9983	2.769	1.949	6.591224,31	4.23	0.00769954912115	VDB=0.15982;SGB=-0.693147;RPB=0.997369;MQB=4.01561e-21;MQSB=0.297937;BQB=0.488136;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=214;DP4=44,29,65,21;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:159:255,0,255:73,86	C	T	0	1	Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant; Dermatofibrosarcoma protuberans, 607907 (3); Meningioma, SIS-related, 607174 (3), Autosomal dominant	.	.	.	6336312|6690975|7214527|3969118|12669032|26976956|16477012|15902258|18756507|3133569|4033772|6291150|6268983|6310754|6298772|6304883|12169633|19881493|6306134|2845420|6323103|6297002|6318322|6740330|23913003|3004957|21409505|6308764|15933201|2996133|9211853|17478383|6328659|3517869|6312326|6293053|10485711|10446987|11420709|8988177|2212004|6289313|6306471|6264598	GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_CELL_ACTIVATION;GO_LIPID_MODIFICATION;GO_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_DNA_REPLICATION;GO_POSITIVE_REGULATION_OF_METANEPHROS_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_PHOSPHOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_BINDING;GO_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_REGULATION_OF_BLOOD_PRESSURE;GO_METANEPHROS_DEVELOPMENT;GO_REGULATION_OF_WOUND_HEALING;GO_REGULATION_OF_MAPK_CASCADE;GO_MYELOID_LEUKOCYTE_MIGRATION;GO_RESPONSE_TO_ESTRADIOL;GO_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_CIRCULATORY_SYSTEM_PROCESS;GO_CELL_CHEMOTAXIS;GO_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_STEROID_HORMONE;GO_RESPONSE_TO_PEPTIDE;GO_SECRETION_BY_CELL;GO_REGULATION_OF_COAGULATION;GO_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_POSITIVE_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PLATELET_ACTIVATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_WOUNDING;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_BLOOD_VOLUME;GO_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_PEPTIDYL_SERINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_LOCOMOTION;GO_POSITIVE_REGULATION_OF_KIDNEY_DEVELOPMENT;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_BODY_FLUID_LEVELS;GO_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_DIFFERENTIATION_INVOLVED_IN_METANEPHROS_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_LEUKOCYTE_CHEMOTAXIS;GO_REGULATION_OF_GLOMERULAR_FILTRATION;GO_WOUND_HEALING;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_NEGATIVE_REGULATION_OF_COAGULATION;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_SECRETION;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_TAXIS;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_WOUND_HEALING;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_LEUKOCYTE_MIGRATION;GO_REGULATION_OF_CELL_PROLIFERATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY;GO_REGULATION_OF_KIDNEY_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;GO_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_CELL_DIVISION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PRI_MIRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_REGULATION_OF_CALCIUM_ION_IMPORT;GO_REGULATION_OF_METAL_ION_TRANSPORT;GO_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_REGULATION_OF_CALCIUM_ION_TRANSPORT;GO_REGULATION_OF_LIPID_KINASE_ACTIVITY;GO_REGULATION_OF_FIBROBLAST_PROLIFERATION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_PROTEIN_KINASE_C_SIGNALING;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_GLOMERULUS_DEVELOPMENT;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_RESPONSE_TO_ESTROGEN;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_DIVISION;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_REGULATION_OF_GLOMERULUS_DEVELOPMENT;GO_METANEPHRIC_NEPHRON_DEVELOPMENT;GO_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_GROWTH;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_RESPONSE_TO_LIPID;GO_VASCULATURE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_BINDING;GO_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION;GO_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_SYSTEM_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_IMPORT;GO_LIPID_PHOSPHORYLATION;GO_RESPONSE_TO_DRUG;GO_RESPONSE_TO_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;GO_RENAL_SYSTEM_VASCULATURE_DEVELOPMENT;GO_REGULATION_OF_METANEPHROS_DEVELOPMENT;GO_PEPTIDYL_TYROSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_POLYSACCHARIDE_METABOLIC_PROCESS;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_PROTEIN_AUTOPHOSPHORYLATION;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_B_ACTIVITY;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_CHEMOTAXIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_PLATELET_ACTIVATION;GO_CONNECTIVE_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;GO_REGULATION_OF_DNA_REPLICATION;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_MONOCYTE_CHEMOTAXIS;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_REGULATION_OF_RENAL_SYSTEM_PROCESS;GO_PLACENTA_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_EXOCYTOSIS;GO_REGULATION_OF_PRI_MIRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REPRODUCTION;GO_REGULATION_OF_ION_TRANSPORT;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_NEPHRON_DEVELOPMENT;GO_PLATELET_DEGRANULATION;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_CELL_DEVELOPMENT;GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;GO_REGULATION_OF_BINDING;GO_POSITIVE_REGULATION_OF_CHEMOTAXIS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_RESPONSE_TO_ALCOHOL;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_SIGNALING;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATED_EXOCYTOSIS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_CELL_PROLIFERATION;GO_RENAL_SYSTEM_PROCESS_INVOLVED_IN_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE;GO_POSITIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_DNA_REPLICATION;GO_TISSUE_DEVELOPMENT;GO_CELL_GROWTH;GO_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;GO_DNA_METABOLIC_PROCESS;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_RENAL_SYSTEM_PROCESS;GO_INOSITOL_LIPID_MEDIATED_SIGNALING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_VASCULATURE_DEVELOPMENT;GO_POSITIVE_CHEMOTAXIS	GO_BASOLATERAL_PLASMA_MEMBRANE;GO_SECRETORY_GRANULE;GO_PLATELET_ALPHA_GRANULE;GO_SECRETORY_GRANULE_LUMEN;GO_SECRETORY_VESICLE;GO_VESICLE_LUMEN;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_PLATELET_ALPHA_GRANULE_LUMEN;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_EXTRACELLULAR_SPACE;GO_CELL_SURFACE;GO_CYTOPLASMIC_VESICLE_PART;GO_PLASMA_MEMBRANE_REGION;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_MEMBRANE_REGION	GO_PROTEIN_HETERODIMERIZATION_ACTIVITY;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_COLLAGEN_BINDING;GO_KINASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_PROTEIN_COMPLEX_BINDING;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_GROWTH_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_IDENTICAL_PROTEIN_BINDING;GO_CHEMOATTRACTANT_ACTIVITY;GO_PHOSPHATIDYLINOSITOL_3_KINASE_ACTIVITY;GO_GROWTH_FACTOR_RECEPTOR_BINDING;GO_ENZYME_REGULATOR_ACTIVITY;GO_PLATELET_DERIVED_GROWTH_FACTOR_BINDING;GO_RECEPTOR_BINDING;GO_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_GROWTH_FACTOR_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_FOCAL_ADHESION;KEGG_GAP_JUNCTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA	PID_PTP1B_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_S1P_S1P3_PATHWAY;PID_NECTIN_PATHWAY;PID_TCPTP_PATHWAY;PID_SHP2_PATHWAY;PID_S1P_S1P1_PATHWAY;PID_PDGFRB_PATHWAY	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	Ubiquitous cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000100311-PDGFB/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lung: 19.4	.	.	PM2
L-	22	40042723	rs376947087	C	T	222	PASS	CACNA1I	Calcium channel, voltage-dependent, T type, alpha-1I subunit	exonic	NM_001003406,NM_021096	.	synonymous SNV	CACNA1I:NM_001003406:exon8:c.C1299T:p.D433D,CACNA1I:NM_021096:exon8:c.C1299T:p.D433D	ENST00000402142.3,ENST00000401624.5,ENSG00000100346.17,ENST00000407673.5,ENST00000404898.5	CpG: 28	22q13.1	.	.	Score=806;Name=V$PAX5_02	.	.	rs376947087	.	.	0.00664452	0.004	0.000798722	7.9e-05	0.00028352	246896	0.00307889	17214	0.00174893	.	.	-0.5598	.	.	.	.	.	.	.	.	.	0.732	0.546	.	2.42	.	VDB=0.493071;SGB=-0.693147;RPB=0.307754;MQB=3.18885e-21;MQSB=0.237962;BQB=0.750933;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=242;DP4=58,31,64,19;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:172:255,0,255:89,83	C	T	0	1	Calcium channel, voltage-dependent, T type, alpha-1I subunit, 608230	.	.	.	11927664|12080115|10454147|10749850	GO_ION_TRANSPORT;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_MEMBRANE_DEPOLARIZATION;GO_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL;GO_METAL_ION_TRANSPORT;GO_TRANSMISSION_OF_NERVE_IMPULSE;GO_REGULATION_OF_EXOCYTOSIS;GO_SPERM_MOTILITY;GO_REGULATION_OF_MEMBRANE_POTENTIAL;GO_CATION_TRANSPORT;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_CELL_MOTILITY;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_CALCIUM_ION_IMPORT;GO_REGULATION_OF_SECRETION;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_POSITIVE_REGULATION_OF_EXOCYTOSIS;GO_LOCOMOTION;GO_REGULATION_OF_REGULATED_SECRETORY_PATHWAY;GO_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS;GO_CALCIUM_ION_TRANSPORT;GO_SYSTEM_PROCESS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_ACTION_POTENTIAL;GO_MULTICELLULAR_ORGANISMAL_SIGNALING;GO_SLEEP;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_ION_TRANSPORT;GO_POSITIVE_REGULATION_OF_SECRETION;GO_NEURONAL_ACTION_POTENTIAL;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_TRANSMEMBRANE_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;GO_CATION_CHANNEL_COMPLEX;GO_TRANSPORTER_COMPLEX;GO_MEMBRANE_PROTEIN_COMPLEX;GO_CALCIUM_CHANNEL_COMPLEX;GO_PLASMA_MEMBRANE_PROTEIN_COMPLEX	GO_VOLTAGE_GATED_ION_CHANNEL_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_GATED_CHANNEL_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	.	http://www.proteinatlas.org/ENSG00000100346-CACNA1I/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	lymph node: 1.4	.	.	PM2
L	22	41256680	rs5758111	A	G	89	PASS	XPNPEP3	X-prolyl aminopeptidase 3	splicing	NM_001204827	NM_001204827:exon2:c.65-2A>G	.	.	ENST00000307221.4,ENSG00000196236.12,ENST00000482652.1,ENST00000417688.5,ENST00000428799.1,ENST00000614001.1,ENST00000357137.8,ENSG00000172404.4	.	22q13.2	.	.	.	.	Score=1256;Name="2888308:AluJb(SINE)"	rs5758111	.	.	0.0631229	0.0605	0.013778	.	0.00340351	120170	0.04523384	7826	0.03736863	0.03433099	0,0.002	-18.5989	.	.	.	.	.	.	.	.	.	-0.193	-0.172	.	.	.	VDB=0.634447;SGB=-0.556411;RPB=1;MQB=1;MQSB=0.5;BQB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=16;DP4=2,1,6,2;MinDP=5;AN=18;AC=2	GT:PL:DP:AD	0/1:124,0,22:5:1,4	0/0:.:10:.	0/0:.:5:.	0/0:.:5:.	0/0:.:5:.	0/0:.:5:.	0/0:.:10:.	0/0:.:5:.	0/1:121,0,74:6:2,4	A	G	0	2	Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive	.	.	.	15708373|20179356	GO_PROTEIN_MATURATION;GO_SYSTEM_PROCESS;GO_RENAL_FILTRATION;GO_PROTEOLYSIS;GO_RENAL_SYSTEM_PROCESS	GO_MITOCHONDRION	GO_PEPTIDASE_ACTIVITY;GO_AMINOPEPTIDASE_ACTIVITY;GO_MANGANESE_ION_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_METALLOPEPTIDASE_ACTIVITY;GO_EXOPEPTIDASE_ACTIVITY	.	.	.	.	Most normal tissues showed moderate to strong cytoplasmic positivity. Cells in the CNS generally negative. Neurophil weakly positive.	http://www.proteinatlas.org/ENSG00000196236-XPNPEP3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	urinary bladder: 4.8	nucleus; cytoplasm	.	BS1
H	22	41560079	rs373249130	G	A	222	PASS	EP300	E1A-binding protein, 300kD	exonic	NM_001429	.	missense SNV	EP300:NM_001429:exon22:c.G3751A:p.G1251R	ENSG00000100393.12,ENST00000263253.8,ENST00000635584.1	.	22q13.2	.	.	.	.	.	rs373249130	.	.	.	.	.	7.7e-05	0.00005411	277210	0.00010602	18864	0.00038865	.	.	-0.1874	.	0.031,D	0.999,D	1.0,D	0.999999,D	0.000341,D	2.525,M	-1.86,D	19.5959	2.631	9.873	7.180789,34	5.59	0.154801847316	VDB=0.381179;SGB=-0.692562;RPB=0.863059;MQB=6.28652e-08;MQSB=0.911465;BQB=0.98551;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=72;DP4=19,8,13,9;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:32:.:.	0/1:49:255,0,255:27,22	G	A	0	1	Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant	.	.	.	15186775|7870178|8004670|20014264|19270680|7523245|12483227|21679367|19353645|25519132|10700188|12690203|16630816|27465822|11268218|11430825|9389684|12384703|23104009|11583620|22318606|18273021|18849969|8622873|10205054|29053796|21390126|15706485|15691758|11864601|12732631|16319895|20164929|19212405|21764752|9488451|24352918|21596989|9590171|17299436	GO_POSITIVE_REGULATION_OF_VIRAL_TRANSCRIPTION;GO_CIRCADIAN_RHYTHM;GO_MEMORY;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_LEUKOCYTE_ACTIVATION;GO_CHROMOSOME_ORGANIZATION;GO_N_TERMINAL_PROTEIN_AMINO_ACID_ACETYLATION;GO_NEUROLOGICAL_SYSTEM_PROCESS;GO_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_RESPONSE_TO_ETHANOL;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_POSITIVE_REGULATION_OF_PROTEIN_BINDING;GO_HEPATICOBILIARY_SYSTEM_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_AUTOPHAGY;GO_NEGATIVE_REGULATION_OF_PROTEOLYSIS;GO_MUSCLE_TISSUE_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_BINDING;GO_COGNITION;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_MUSCLE_ORGAN_DEVELOPMENT;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_CHEMICAL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_MYELOID_CELL_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_UV;GO_RESPONSE_TO_ACID_CHEMICAL;GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_RESPONSE_TO_CORTICOSTEROID;GO_REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;GO_POSITIVE_REGULATION_OF_BINDING;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS;GO_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS;GO_POSITIVE_REGULATION_BY_HOST_OF_VIRAL_TRANSCRIPTION;GO_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR;GO_REGULATION_OF_PROTEIN_DEACETYLATION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_BONE_CELL_DEVELOPMENT;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_MODIFICATION_OF_MORPHOLOGY_OR_PHYSIOLOGY_OF_OTHER_ORGANISM;GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CELL_ACTIVATION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT;GO_POSITIVE_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_REGULATION_OF_GROWTH;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_RESPONSE_TO_METAL_ION;GO_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS;GO_RESPONSE_TO_NERVE_GROWTH_FACTOR;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_B_CELL_DIFFERENTIATION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_EMBRYO_DEVELOPMENT;GO_DIGESTIVE_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;GO_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE_ACTIVATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_BONE_DEVELOPMENT;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_RETINOIC_ACID;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_LYMPHOCYTE_ACTIVATION;GO_MUSCLE_STRUCTURE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_DNA_REPAIR;GO_CELLULAR_RESPONSE_TO_CORTICOSTEROID_STIMULUS;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_REGULATION_OF_SECRETION;GO_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE;GO_MODULATION_OF_TRANSCRIPTION_IN_OTHER_ORGANISM_INVOLVED_IN_SYMBIOTIC_INTERACTION;GO_APOPTOTIC_SIGNALING_PATHWAY;GO_PROTEIN_ACETYLATION;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_PROTEIN_SECRETION;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_B_CELL_ACTIVATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CHROMATIN_MODIFICATION;GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SECRETION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_RESPONSE_TO_KETONE;GO_CELLULAR_RESPONSE_TO_HYDROGEN_PEROXIDE;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_REGULATION_OF_SYMBIOSIS_ENCOMPASSING_MUTUALISM_THROUGH_PARASITISM;GO_G1_DNA_DAMAGE_CHECKPOINT;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_DNA_BINDING;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PLATELET_MORPHOGENESIS;GO_RESPONSE_TO_CAMP;GO_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_PROTEIN_KINASE_B_SIGNALING;GO_SOMITOGENESIS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PROTEIN_STABILIZATION;GO_ORGAN_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_CELLULAR_RESPONSE_TO_CAMP;GO_COVALENT_CHROMATIN_MODIFICATION;GO_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ESTROGEN;GO_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_MEGAKARYOCYTE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_CELL_SIZE;GO_CHROMATIN_ORGANIZATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_SEGMENTATION;GO_RESPONSE_TO_UV;GO_NUCLEOTIDE_EXCISION_REPAIR;GO_NOTCH_SIGNALING_PATHWAY;GO_RESPONSE_TO_RADIATION;GO_HEART_DEVELOPMENT;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_IN_RESPONSE_TO_HYPOXIA;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_MITOTIC_DNA_INTEGRITY_CHECKPOINT;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CHROMATIN_MODIFICATION;GO_POSITIVE_REGULATION_OF_CELL_DEATH;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_PROTEIN_ACETYLATION;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_STABILITY;GO_POSITIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_RESPONSE_TO_CARBOHYDRATE;GO_SYSTEM_PROCESS;GO_MITOTIC_CELL_CYCLE_CHECKPOINT;GO_RESPONSE_TO_LIPID;GO_POSITIVE_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_PROTEIN_IMPORT;GO_FAT_CELL_DIFFERENTIATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_FATTY_ACID;GO_POSITIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_SYSTEM_PROCESS;GO_CELLULAR_GLUCOSE_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_ANTIBIOTIC;GO_REGULATION_OF_VIRAL_TRANSCRIPTION;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CARBOHYDRATE_HOMEOSTASIS;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_RESPONSE_TO_DRUG;GO_MEGAKARYOCYTE_DIFFERENTIATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_GROWTH_FACTOR;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_CHROMATIN_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_ACETYLATION;GO_CELLULAR_RESPONSE_TO_RADIATION;GO_CELLULAR_RESPONSE_TO_KETONE;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_RHYTHMIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_SIZE;GO_REGULATION_OF_CELL_CYCLE_ARREST;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_CELLULAR_RESPONSE_TO_ALCOHOL;GO_INTERACTION_WITH_SYMBIONT;GO_REGULATION_OF_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_IMPORT;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_IN_RESPONSE_TO_STRESS;GO_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_ARREST;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR;GO_RESPONSE_TO_RETINOIC_ACID;GO_RESPIRATORY_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_DEXAMETHASONE;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_DNA_INTEGRITY_CHECKPOINT;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_RESPONSE_TO_MINERALOCORTICOID;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RESPONSE_TO_TOXIC_SUBSTANCE;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_RESPONSE_TO_ANTIBIOTIC;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_MYELOID_CELL_DIFFERENTIATION;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_PROTEIN_ACYLATION;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_MUSCLE_SYSTEM_PROCESS;GO_GLAND_DEVELOPMENT;GO_BETA_CATENIN_TCF_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_CELL_CYCLE_CHECKPOINT;GO_RESPONSE_TO_CYTOKINE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PATTERN_SPECIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_INVOLVED_IN_CELLULAR_RESPONSE_TO_CHEMICAL_STIMULUS;GO_CELL_DEVELOPMENT;GO_RESPONSE_TO_COBALT_ION;GO_POSITIVE_REGULATION_OF_MULTI_ORGANISM_PROCESS;GO_REGULATION_OF_BINDING;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_HISTONE_H4_ACETYLATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_VIRAL_PROCESS;GO_REGULATION_OF_PROTEOLYSIS;GO_POSITIVE_REGULATION_OF_SECRETION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_SOMITE_DEVELOPMENT;GO_REGULATION_OF_MUSCLE_ADAPTATION;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ALCOHOL;GO_CELLULAR_HOMEOSTASIS;GO_HISTONE_H3_ACETYLATION;GO_CELLULAR_RESPONSE_TO_DEXAMETHASONE_STIMULUS;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;GO_RESPONSE_TO_LIGHT_STIMULUS;GO_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_REGIONALIZATION;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_N_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_BEHAVIOR;GO_CELLULAR_RESPONSE_TO_DRUG;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_CELL_CYCLE_PROCESS;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_CELLULAR_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_LYMPHOCYTE_DIFFERENTIATION;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_RESPONSE_TO_HYDROGEN_PEROXIDE;GO_REGULATION_OF_PROTEIN_TARGETING;GO_DNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ASSEMBLY;GO_RESPONSE_TO_CALCIUM_ION;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES	GO_CHROMOSOME;GO_TRANSFERASE_COMPLEX;GO_PROTEIN_DNA_COMPLEX;GO_CHROMATIN;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_NUCLEOPLASM_PART;GO_CATALYTIC_COMPLEX;GO_ACETYLTRANSFERASE_COMPLEX	GO_BETA_CATENIN_BINDING;GO_MITOGEN_ACTIVATED_PROTEIN_KINASE_BINDING;GO_SMAD_BINDING;GO_BHLH_TRANSCRIPTION_FACTOR_BINDING;GO_HORMONE_RECEPTOR_BINDING;GO_CORE_PROMOTER_BINDING;GO_KINASE_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_ACETYLTRANSFERASE_ACTIVITY;GO_PROTEIN_C_TERMINUS_BINDING;GO_ANDROGEN_RECEPTOR_BINDING;GO_DAMAGED_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_CHROMATIN_DNA_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_RNA_POLYMERASE_II_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING;GO_PEPTIDE_N_ACETYLTRANSFERASE_ACTIVITY;GO_GLUCOCORTICOID_RECEPTOR_BINDING;GO_N_ACYLTRANSFERASE_ACTIVITY;GO_STEROID_HORMONE_RECEPTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_NF_KAPPAB_BINDING;GO_ENZYME_BINDING;GO_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_PEROXISOME_PROLIFERATOR_ACTIVATED_RECEPTOR_BINDING;GO_ZINC_ION_BINDING;GO_CHROMATIN_BINDING;GO_ANTIGEN_BINDING;GO_P53_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_PRE_MRNA_BINDING;GO_RECEPTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_N_ACETYLTRANSFERASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING;GO_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING;GO_STRUCTURE_SPECIFIC_DNA_BINDING	KEGG_CELL_CYCLE;KEGG_WNT_SIGNALING_PATHWAY;KEGG_NOTCH_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_ADHERENS_JUNCTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_LONG_TERM_POTENTIATION;KEGG_MELANOGENESIS;KEGG_HUNTINGTONS_DISEASE;KEGG_PATHWAYS_IN_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEAR_PATHWAY;PID_NOTCH_PATHWAY;PID_P73PATHWAY;PID_HDAC_CLASSIII_PATHWAY;PID_E2F_PATHWAY;PID_HIF2PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIV_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_NFAT_3PATHWAY;PID_REG_GR_PATHWAY;PID_FOXO_PATHWAY;PID_P53_DOWNSTREAM_PATHWAY;PID_AR_TF_PATHWAY;PID_IFNG_PATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_FOXM1_PATHWAY;PID_CMYB_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_BETA_CATENIN_NUC_PATHWAY;PID_MYC_REPRESS_PATHWAY;PID_HIF1_TFPATHWAY;PID_TAP63_PATHWAY;PID_P53_REGULATION_PATHWAY;PID_RB_1PATHWAY;PID_HNF3A_PATHWAY;PID_HES_HEY_PATHWAY	BIOCARTA_RELA_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_VDR_PATHWAY;BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_HIF_PATHWAY;BIOCARTA_IL7_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_PITX2_PATHWAY;BIOCARTA_NTHI_PATHWAY;BIOCARTA_HER2_PATHWAY;BIOCARTA_MEF2D_PATHWAY;BIOCARTA_TGFB_PATHWAY;BIOCARTA_CARM1_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_CIRCADIAN_REPRESSION_OF_EXPRESSION_BY_REV_ERBA;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_REGULATION_OF_HYPOXIA_INDUCIBLE_FACTOR_HIF_BY_OXYGEN;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_CIRCADIAN_CLOCK;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_HEMOSTASIS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	Ubiquitous nuclear expression at variable levels.	http://www.proteinatlas.org/ENSG00000100393-EP300/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 31.0	nucleus but not nucleoli	.	PM2, PP3
H	22	41623181	.	A	G	222	PASS	L3MBTL2	L3MBT-like 2	exonic	NM_031488	.	missense SNV	L3MBTL2:NM_031488:exon14:c.A1676G:p.K559R	ENSG00000100395.14,ENST00000216237.9,ENST00000481902.5,ENST00000452106.5,ENST00000466589.5,ENST00000479978.5	.	22q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0606	.	0.158,T	0.048,B	0.039,B	0.880628,D	0.000007,N	0.46,N	1.52,T	6.9602	0.351	0.865	1.523458,13.44	3.36	0.0106199316477	VDB=0.0708157;SGB=-0.693147;RPB=0.441723;MQB=3.59707e-19;MQSB=0.302535;BQB=0.838189;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=174;DP4=56,9,52,16;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:133:255,0,255:65,68	A	G	0	1	L3MBT-like 2, 611865	.	.	.	14597177|11682070	GO_CHROMOSOME_ORGANIZATION;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_CHROMATIN_MODIFICATION;GO_PROTEIN_SUMOYLATION;GO_CHROMATIN_ORGANIZATION	.	GO_HISTONE_BINDING;GO_METHYLATED_HISTONE_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Strong cytoplasmic positivity was observed in astrocytes and nerve fibers. Remaining normal tissues were negative.	http://www.proteinatlas.org/ENSG00000100395-L3MBTL2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 19.6	nucleus but not nucleoli	.	PM2
L	22	42046822	rs550596546	G	A	222	PASS	XRCC6	X-ray repair, complementing defecting, in chinese hamster, 6	exonic	NM_001288976,NM_001288977,NM_001288978,NM_001469	.	synonymous SNV	XRCC6:NM_001288978:exon7:c.G906A:p.P302P,XRCC6:NM_001288976:exon8:c.G1056A:p.P352P,XRCC6:NM_001288977:exon8:c.G933A:p.P311P,XRCC6:NM_001469:exon8:c.G1056A:p.P352P	ENST00000360079.7,ENST00000428575.6,ENST00000405506.2,ENST00000402580.7,ENST00000405878.5,ENSG00000196419.12,ENST00000359308.8	.	22q13.2	.	.	.	.	.	rs550596546	.	.	0.00332226	0.002	0.000399361	.	0.00005052	277132	0.00063606	18866	0.00077730	.	.	-0.0878	.	.	.	.	.	.	.	.	.	-0.538	-0.290	.	.	.	VDB=0.00080494;SGB=-0.69312;RPB=0.78734;MQB=1.2667e-08;MQSB=0.903625;BQB=0.760621;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=69;DP4=20,5,25,7;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:31:.:.	0/0:30:.:.	0/0:50:.:.	0/0:32:.:.	0/0:30:.:.	0/0:31:.:.	0/0:50:.:.	0/1:57:255,0,255:25,32	G	A	0	1	X-ray repair, complementing defecting, in chinese hamster, 6, 152690	.	.	.	9826654|2917966|10508516|7671312|8954777|11283371|9702186|17124166|20538911|2466842|12652308|9736627|8661113|7957065|19692349|11493912|21398614	GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_IONIZING_RADIATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CYTOKINE_PRODUCTION;GO_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_HOMEOSTATIC_PROCESS;GO_TELOMERE_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_GAMMA_RADIATION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PROTEIN_OLIGOMERIZATION;GO_DNA_CONFORMATION_CHANGE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_DNA_REPAIR;GO_PROTEIN_HETEROTETRAMERIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_DOUBLE_STRAND_BREAK_REPAIR;GO_RESPONSE_TO_RADIATION;GO_DNA_RECOMBINATION;GO_CELLULAR_RESPONSE_TO_IONIZING_RADIATION;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_NON_RECOMBINATIONAL_REPAIR;GO_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_DNA_GEOMETRIC_CHANGE;GO_CELLULAR_RESPONSE_TO_RADIATION;GO_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION;GO_RESPONSE_TO_GAMMA_RADIATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_VIRAL_LATENCY;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_RESPONSE_TO_X_RAY;GO_DNA_LIGATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_PROTEIN_TETRAMERIZATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELLULAR_RESPONSE_TO_ABIOTIC_STIMULUS;GO_DNA_METABOLIC_PROCESS;GO_ANATOMICAL_STRUCTURE_HOMEOSTASIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_HETEROOLIGOMERIZATION	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_CHROMOSOME;GO_PROTEIN_DNA_COMPLEX;GO_TRANSCRIPTION_FACTOR_COMPLEX;GO_DNA_REPAIR_COMPLEX;GO_CHROMOSOME_TELOMERIC_REGION;GO_TELOMERE_CAP_COMPLEX	GO_ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;GO_PURINE_NTP_DEPENDENT_HELICASE_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_DAMAGED_DNA_BINDING;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TELOMERIC_DNA_BINDING;GO_LYASE_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_POLY_A_RNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_ATPASE_ACTIVITY;GO_CARBON_OXYGEN_LYASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_RNA_BINDING	KEGG_NON_HOMOLOGOUS_END_JOINING	PID_HDAC_CLASSIII_PATHWAY;PID_DNA_PK_PATHWAY;PID_AR_PATHWAY;PID_TELOMERASE_PATHWAY;PID_BARD1_PATHWAY	BIOCARTA_TEL_PATHWAY	REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_EARLY_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_INTEGRATION_OF_PROVIRUS	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000196419-XRCC6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 161.1	nucleus but not nucleoli	.	BP7, PM2
H	22	42262865	rs750234252	G	A	222	PASS	SREBF2	Sterol regulatory element binding transcription factor 2	exonic	NM_004599	.	missense SNV	SREBF2:NM_004599:exon2:c.G119A:p.G40E	ENST00000612482.4,ENST00000424354.5,ENST00000361204.8,ENSG00000198911.11	.	22q13.2	.	.	Score=870;Name=V$HMX1_01	.	.	rs750234252	.	.	.	.	.	.	0.00020743	274796	0.00280869	18870	0.00330354	0.00528169	.	1.1955	.	0.011,D	0.634,P	0.991,D	0.999988,D	0.000036,D	1.655,L	0.58,T	17.6357	2.137	5.008	2.769201,21.2	4.7	0.0113878843721	VDB=0.411249;SGB=-0.692976;RPB=0.965805;MQB=2.96018e-08;MQSB=0.953424;BQB=0.992528;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=66;DP4=21,4,21,5;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:33:.:.	0/0:30:.:.	0/0:30:.:.	0/0:47:.:.	0/1:51:255,0,255:25,26	G	A	0	1	Sterol regulatory element binding transcription factor 2, 600481	.	.	.	20558698|10619424|7759101|7903453|18846256|14645851|21858719|9070916|25218172|11950857|20466882|11485982|20466885|9329978|15372105|7958866	GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION;GO_REGULATION_OF_LIPID_STORAGE;GO_REGULATION_OF_AUTOPHAGY;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_CHOLESTEROL_HOMEOSTASIS;GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS;GO_RESPONSE_TO_FLUID_SHEAR_STRESS;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_CELLULAR_RESPONSE_TO_FLUID_SHEAR_STRESS;GO_CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_CHOLESTEROL_EFFLUX;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_LIPID_TRANSPORT;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION;GO_RESPONSE_TO_LOW_DENSITY_LIPOPROTEIN_PARTICLE;GO_REGULATION_OF_MITOPHAGY;GO_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_STEROID_METABOLIC_PROCESS;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_ALCOHOL_METABOLIC_PROCESS;GO_REGULATION_OF_STEROL_TRANSPORT;GO_RESPONSE_TO_LIPOPROTEIN_PARTICLE;GO_NEGATIVE_REGULATION_OF_LIPID_TRANSPORT;GO_CELLULAR_RESPONSE_TO_STARVATION;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_CHOLESTEROL_STORAGE;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_STEROL_TRANSPORT;GO_POSITIVE_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_LIPID_STORAGE;GO_STEROL_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_STARVATION;GO_POSITIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_LAMINAR_FLUID_SHEAR_STRESS;GO_REGULATION_OF_PROTEIN_TARGETING;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_ER_TO_GOLGI_TRANSPORT_VESICLE;GO_VESICLE_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ENDOPLASMIC_RETICULUM_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_INTRACELLULAR_VESICLE;GO_GOLGI_MEMBRANE;GO_COATED_VESICLE_MEMBRANE;GO_ER_TO_GOLGI_TRANSPORT_VESICLE_MEMBRANE;GO_MEMBRANE_PROTEIN_COMPLEX;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_CYTOPLASMIC_VESICLE_PART;GO_COATED_VESICLE;GO_GOLGI_APPARATUS;GO_TRANSPORT_VESICLE;GO_ENDOPLASMIC_RETICULUM;GO_TRANSPORT_VESICLE_MEMBRANE	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_PROTEIN_C_TERMINUS_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_E_BOX_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_TRANSPOSING_C_C_BONDS;GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_ISOMERASE_ACTIVITY	.	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	Most of the normal tissues displayed moderate to strong nuclear and occasional cytoplasmic positivity. The lung, liver, pancreas, endocrine glands and cells in CNS were weakly stained or negative.	http://www.proteinatlas.org/ENSG00000198911-SREBF2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 56.1	.	.	.
H	22	43089858	rs186054814	C	T	222	PASS	A4GALT	Alpha 1,4-galactosyltransferase	exonic	NM_001318038,NM_017436	.	missense SNV	A4GALT:NM_001318038:exon3:c.G100A:p.V34I,A4GALT:NM_017436:exon3:c.G100A:p.V34I	ENST00000249005.2,ENSG00000128274.15,ENST00000401850.5,ENST00000381278.3	.	22q13.2	.	.	.	.	.	rs186054814	.	.	0.0299003	0.0308	0.0061901	7.7e-05	0.00293068	269562	0.04075032	18552	0.04372328	0.03527337	.	.	Nucleotide-diphospho-sugar transferases	0.153,T	0.002,B	0.002,B	0.999997,N	0.116412,N	0.76,N	-1.36,T	7.1361	-0.039	-0.739	1.007505,10.70	.	.	VDB=0.236586;SGB=-0.693132;RPB=0.945039;MQB=3.12429e-09;MQSB=0.969403;BQB=0.993536;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=407;DP4=136,25,104,21;MinDP=50;AN=18;AC=3	GT:PL:DP:AD	0/1:255,0,255:74:40,34	0/0:.:101:.	0/0:.:100:.	0/0:.:100:.	0/0:.:102:.	0/0:.:50:.	0/1:255,0,255:102:55,47	0/0:.:50:.	0/1:255,0,255:110:66,44	C	T	0	3	[Blood group, P1Pk system, P(2) phenotype], 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3)	.	Pk synthase deficiency (p phenotype)(CM1213289)	GTC-ATC|Val34Ile|c.100G>A|p.V34I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=23225054&amp;dopt=Abstract)	23225054|6879680|10993874|11782470|7072192|15142124|12888565|2644022|11896312|10748143|9920164|1709864|9826718|3964810|7795329|10747952|22965229|20971946	GO_GLYCOLIPID_BIOSYNTHETIC_PROCESS;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_SPHINGOLIPID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS;GO_GLYCOSPHINGOLIPID_METABOLIC_PROCESS;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_LIPID_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_SPHINGOLIPID_BIOSYNTHETIC_PROCESS;GO_MEMBRANE_ORGANIZATION;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_LIPOSACCHARIDE_METABOLIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS;GO_GLYCOSYLATION;GO_MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;GO_GLYCOPROTEIN_METABOLIC_PROCESS	GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_GOLGI_APPARATUS_PART;GO_INTRINSIC_COMPONENT_OF_GOLGI_MEMBRANE;GO_GOLGI_MEMBRANE;GO_GOLGI_APPARATUS	GO_UDP_GALACTOSYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;GO_TOXIC_SUBSTANCE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GO_GALACTOSYLTRANSFERASE_ACTIVITY;GO_UDP_GLYCOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES	.	.	.	.	http://www.proteinatlas.org/ENSG00000128274-A4GALT/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 12.4	.	.	BS1, PM1
H+	22	43273026	.	G	C	222	PASS	PACSIN2	Protein kinase C and casein kinase substrate in neurons 2	splicing	NM_001184970,NM_001349969,NM_001349970,NM_007229	NM_001184970:exon9:c.1029-10C>G;NM_001349969:exon10:c.1035-10C>G;NM_001349970:exon10:c.1035-10C>G;NM_007229:exon9:c.1029-10C>G	.	.	ENST00000337959.8,ENST00000263246.7,ENST00000634914.1,ENSG00000100266.18,ENST00000402229.5,ENST00000407585.5,ENST00000403744.7	.	22q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464,0.622	-5.1448	.	.	.	.	.	.	.	.	.	2.357	3.692	2.296529,18.14	4.71	.	VDB=6.00822e-10;SGB=-0.693147;RPB=0.970426;MQB=1.19448e-14;MQSB=0.962485;BQB=0.489096;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=145;DP4=19,41,19,33;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:52:.:.	0/0:50:.:.	0/0:51:.:.	0/0:53:.:.	0/1:112:255,0,255:60,52	G	C	0	1	Protein kinase C and casein kinase substrate in neurons 2, 604960	.	.	.	9746365|10431838|21610094|11179684	GO_CELL_PART_MORPHOGENESIS;GO_MEMBRANE_BIOGENESIS;GO_ACTIN_FILAMENT_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_PLASMA_MEMBRANE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_ENDOCYTOSIS;GO_MEMBRANE_RAFT_ORGANIZATION;GO_VESICLE_MEDIATED_TRANSPORT;GO_MEMBRANE_ASSEMBLY;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_MEMBRANE_TUBULATION;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_PROTEIN_LOCALIZATION_TO_VACUOLE;GO_ENDOMEMBRANE_SYSTEM_ORGANIZATION;GO_REGULATION_OF_ENDOCYTOSIS;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_PROTEIN_LOCALIZATION;GO_MEMBRANE_ORGANIZATION;GO_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_TRANSPORT;GO_RECEPTOR_MEDIATED_ENDOCYTOSIS;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_ENDOCYTOSIS;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION	GO_VESICLE_MEMBRANE;GO_VACUOLE;GO_CELL_PROJECTION_MEMBRANE;GO_CELL_JUNCTION;GO_LEADING_EDGE_MEMBRANE;GO_CYTOSKELETON;GO_INTRACELLULAR_VESICLE;GO_CELL_SUBSTRATE_JUNCTION;GO_RUFFLE_MEMBRANE;GO_VACUOLAR_PART;GO_MEMBRANE_MICRODOMAIN;GO_CELL_CELL_JUNCTION;GO_ANCHORING_JUNCTION;GO_RECYCLING_ENDOSOME_MEMBRANE;GO_CYTOPLASMIC_VESICLE_PART;GO_ENDOSOMAL_PART;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_RUFFLE;GO_EXTRINSIC_COMPONENT_OF_MEMBRANE;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_RECYCLING_ENDOSOME;GO_EARLY_ENDOSOME;GO_ENDOSOME;GO_PLASMA_MEMBRANE_RAFT;GO_VACUOLAR_MEMBRANE	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_PHOSPHATIDIC_ACID_BINDING;GO_LIPID_BINDING;GO_PHOSPHOLIPID_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	.	Most normal tissues displayed moderate cytoplasmic positivity with additional membranous staining in a few cases. Stomach, gall bladder, fallopian tube, epididymis and exocrine pancreas were strongly stained. Hepatocytes, renal glomeruli, cells in CNS, adipocytes, heart and skeletal muscle were negative.	http://www.proteinatlas.org/ENSG00000100266-PACSIN2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 58.1	cytoplasm; vesicles; nucleus but not nucleoli	.	PM2, PP3
H	22	44328845	rs767874226	G	A	222	PASS	PNPLA3	Patatin-like phospholipase domain-containing protein 3	exonic	NM_025225	.	missense SNV	PNPLA3:NM_025225:exon4:c.G574A:p.D192N	ENSG00000100344.10,ENST00000423180.2,ENST00000216180.7,ENST00000478713.1,ENST00000406117.6	.	22q13.31	.	.	Score=877;Name=V$TAL1ALPHAE47_01	.	.	rs767874226	.	.	.	.	.	.	0.00006132	277228	0.00084791	18870	0.00116595	0.00088028	.	-0.6906	Acyl transferase/acyl hydrolase/lysophospholipase	0.0,D	0.97,D	1.0,D	0.999999,D	0.000001,D	3.45,M	-0.71,T	13.3828	1.348	8.718	6.843939,33	4.55	0.0939614738019	VDB=0.108837;SGB=-0.69168;RPB=0.149902;MQB=2.41626e-08;MQSB=0.646425;BQB=0.329353;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=67;DP4=15,17,12,7;MinDP=11;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:51:255,0,255:32,19	G	A	0	1	Patatin-like phospholipase domain-containing protein 3, 609567	.	.	.	11431482|20385813|15364929|15181042	GO_CELLULAR_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_GLYCEROLIPID_METABOLIC_PROCESS;GO_NEUTRAL_LIPID_CATABOLIC_PROCESS;GO_CELLULAR_LIPID_CATABOLIC_PROCESS;GO_GLYCEROLIPID_BIOSYNTHETIC_PROCESS;GO_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_TRIGLYCERIDE_CATABOLIC_PROCESS;GO_NEUTRAL_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_LIPID_CATABOLIC_PROCESS;GO_GLYCEROLIPID_CATABOLIC_PROCESS;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	GO_ACYLGLYCEROL_O_ACYLTRANSFERASE_ACTIVITY;GO_TRIGLYCERIDE_LIPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_O_ACYLTRANSFERASE_ACTIVITY;GO_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY;GO_PHOSPHOLIPASE_A2_ACTIVITY;GO_LIPASE_ACTIVITY;GO_PHOSPHOLIPASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	Expression in kidney and liver.	http://www.proteinatlas.org/ENSG00000100344-PNPLA3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	skin: 2.0	nucleoli; cytoplasm; mitochondria	.	PM1, PM2, PP3
H	22	45785692	.	G	A	222	PASS	SMC1B	.	exonic	NM_001291501,NM_148674	.	missense SNV	SMC1B:NM_001291501:exon10:c.C1631T:p.A544V,SMC1B:NM_148674:exon10:c.C1631T:p.A544V	ENST00000404354.3,ENST00000357450.8,ENSG00000077935.16	.	22q13.31	.	.	Score=945;Name=V$SOX5_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3705	RecF/RecN/SMC, N-terminal;SMCs flexible hinge	0.0,D	0.998,D	1.0,D	1,D	0.000027,D	3.315,M	-2.11,D	19.1598	2.530	9.645	6.444755,29.8	5.39	0.202176046944	VDB=0.0585032;SGB=-0.692562;RPB=0.934056;MQB=3.58528e-09;MQSB=0.940612;BQB=0.905051;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=20,13,15,7;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:55:255,0,255:33,22	G	A	0	1	.	.	.	.	.	GO_CHROMOSOME_ORGANIZATION;GO_CHROMOSOME_SEGREGATION;GO_ORGANELLE_FISSION;GO_SISTER_CHROMATID_SEGREGATION;GO_SISTER_CHROMATID_COHESION;GO_MEIOTIC_CELL_CYCLE;GO_CELL_CYCLE;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_REPRODUCTION;GO_CELL_CYCLE_PROCESS;GO_NUCLEAR_CHROMOSOME_SEGREGATION	GO_CHROMOSOME;GO_CONDENSED_NUCLEAR_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_CHROMOSOME;GO_SYNAPTONEMAL_COMPLEX;GO_LATERAL_ELEMENT;GO_CONDENSED_CHROMOSOME;GO_COHESIN_COMPLEX	GO_RIBONUCLEOTIDE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS	Selective nuclear and cytoplasmic expression in seminiferous ducts of testis.	http://www.proteinatlas.org/ENSG00000077935-SMC1B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	bone marrow: 0.1	nucleus but not nucleoli; cytoplasm	.	PM1, PM2, PP3
L	22	46615880	rs1800234	T	C	222	PASS	PPARA	Peroxisome proliferator-activated receptor-alpha	exonic	NM_001001928,NM_005036	.	missense SNV	PPARA:NM_001001928:exon6:c.T680C:p.V227A,PPARA:NM_005036:exon7:c.T680C:p.V227A	ENST00000262735.9,ENST00000493286.1,ENST00000402126.1,ENSG00000186951.16,ENST00000407236.5	.	22q13.31	.	.	Score=917;Name=V$TCF11_01	.	.	rs1800234	.	.	0.051495	0.0427	0.0169728	0.0006	0.01034149	277136	0.04335842	18866	0.04488923	0.04225352	.	0.0354	Nuclear hormone receptor, ligand-binding	1.0,T	0.0,B	0.0,B	1,D	0.004907,N	0,N	-0.36,T	6.3027	0.807	0.990	.	4.22	.	VDB=0.644109;SGB=-0.693136;RPB=0.848978;MQB=1.06465e-07;MQSB=0.514104;BQB=0.986169;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=80;DP4=10,13,21,14;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:51:.:.	0/0:30:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:58:255,0,255:23,35	T	C	0	1	{Hyperapobetalipoproteinemia, susceptibility to} (3)	.	Lower total cholesterol, association with(CM021318)	GTC-GCC|Val227Ala|c.680T>C|p.V227A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=11897821&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=18853997&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=18292238&amp;dopt=Abstract)	11897821|18853997|18292238|11443177|12847522|9792666|9739042|12955147|12055195|10839530|10359558|25970251|25383539|7539101|12195019|10377439|11514592|15232616|15309680|12960963|21179166|7684926|12006394|19194461|10828087|11845213|12401792	GO_CIRCADIAN_RHYTHM;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_ION_TRANSPORT;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING;GO_REGULATION_OF_LIPID_STORAGE;GO_EPITHELIUM_DEVELOPMENT;GO_REGULATION_OF_PROTEIN_BINDING;GO_SINGLE_ORGANISM_BEHAVIOR;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_BLOOD_PRESSURE;GO_CIRCULATORY_SYSTEM_PROCESS;GO_RESPONSE_TO_STEROID_HORMONE;GO_RESPONSE_TO_PEPTIDE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_LIPOPROTEIN_METABOLIC_PROCESS;GO_ADULT_BEHAVIOR;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION;GO_TOOTH_MINERALIZATION;GO_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ORGANIC_ACID_TRANSPORT;GO_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_WOUND_HEALING;GO_REGULATION_OF_SEQUESTERING_OF_TRIGLYCERIDE;GO_NEGATIVE_REGULATION_OF_DNA_BINDING;GO_REGULATION_OF_CIRCADIAN_RHYTHM;GO_ANION_TRANSPORT;GO_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_REGULATION_OF_NUCLEOSIDE_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PROTEIN_BINDING;GO_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ENAMEL_MINERALIZATION;GO_NEGATIVE_REGULATION_OF_NUCLEOSIDE_METABOLIC_PROCESS;GO_RESPONSE_TO_ALKALOID;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_FOOD;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_RESPONSE_TO_OXYGEN_LEVELS;GO_REGULATION_OF_DNA_BINDING;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_RESPONSE_TO_FOOD;GO_REGULATION_OF_RECEPTOR_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_ORGANIC_ANION_TRANSPORT;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_REGULATION_OF_LIPID_TRANSPORT;GO_HEART_DEVELOPMENT;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_SYSTEM_PROCESS;GO_RESPONSE_TO_LIPID;GO_RESPONSE_TO_NICOTINE;GO_FATTY_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_BINDING;GO_EPIDERMIS_DEVELOPMENT;GO_LIPID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_LIPID_CATABOLIC_PROCESS;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_AMELOGENESIS;GO_NEGATIVE_REGULATION_OF_BLOOD_PRESSURE;GO_NEGATIVE_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION;GO_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_APPETITE;GO_REGULATION_OF_CELL_CELL_ADHESION;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_NEGATIVE_REGULATION_OF_LIPID_STORAGE;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_RHYTHMIC_PROCESS;GO_STEROID_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_REGULATION_OF_FATTY_ACID_OXIDATION;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_BIOMINERAL_TISSUE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH;GO_POSITIVE_REGULATION_OF_FATTY_ACID_OXIDATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_REGULATION_OF_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS;GO_REGULATION_OF_CHOLESTEROL_STORAGE;GO_REGULATION_OF_CELL_ADHESION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_COFACTOR_METABOLIC_PROCESS;GO_REGULATION_OF_INFLAMMATORY_RESPONSE;GO_POSITIVE_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS;GO_REGULATION_OF_COFACTOR_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_LIPID_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_REGULATION_OF_PRI_MIRNA_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_LIPID_LOCALIZATION;GO_FATTY_ACID_TRANSPORT;GO_REGULATION_OF_BINDING;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_WOUNDING;GO_REGULATION_OF_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CARBOHYDRATE_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_GLUCONEOGENESIS;GO_BEHAVIOR;GO_REGULATION_OF_GLUCONEOGENESIS;GO_TISSUE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ODONTOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_REGULATION_OF_FATTY_ACID_BETA_OXIDATION	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_DIRECT_LIGAND_REGULATED_SEQUENCE_SPECIFIC_DNA_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_STEROID_HORMONE_RECEPTOR_ACTIVITY;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_RNA_POLYMERASE_II_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_TRANSCRIPTION_COFACTOR_BINDING;GO_PHOSPHATASE_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_DRUG_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_BINDING;GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_COACTIVATOR_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_RECEPTOR_ACTIVITY;GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_LIPID_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_PPAR_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_RXR_VDR_PATHWAY	BIOCARTA_PPARA_PATHWAY;BIOCARTA_NUCLEARRS_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_BARRESTIN_PATHWAY;BIOCARTA_TOLL_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_YAP1_AND_WWTR1_TAZ_STIMULATED_GENE_EXPRESSION;REACTOME_CIRCADIAN_REPRESSION_OF_EXPRESSION_BY_REV_ERBA;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CIRCADIAN_CLOCK;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	.	http://www.proteinatlas.org/ENSG00000186951-PPARA/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	kidney: 17.1	.	.	BS1, PM1
M	22	46654722	rs1010741757	G	A	222	PASS	PKDREJ	Polycystic kidney disease and sea urchin REJ homolog-like	exonic	NM_006071	.	missense SNV	PKDREJ:NM_006071:exon1:c.C4498T:p.P1500S	ENSG00000130943.6,ENST00000253255.6	.	22q13.31	.	.	.	.	.	rs1010741757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534,T	0.002,B	0.003,B	1,N	0.000010,N	1.24,L	1.33,T	0.8023	-1.491	-0.290	.	.	0.00370432594139	VDB=0.857221;SGB=-0.693147;RPB=0.848559;MQB=1.08602e-09;MQSB=0.99999;BQB=0.978219;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=118;DP4=31,13,34,12;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/1:90:255,0,255:44,46	G	A	0	1	Polycystic kidney disease and sea urchin REJ homolog-like, 604670	.	.	.	17564962|9949214|10602361	GO_ION_TRANSPORT;GO_SINGLE_FERTILIZATION;GO_METAL_ION_TRANSPORT;GO_CATION_TRANSPORT;GO_DETECTION_OF_MECHANICAL_STIMULUS;GO_SEXUAL_REPRODUCTION;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_RESPONSE_TO_ABIOTIC_STIMULUS;GO_DETECTION_OF_ABIOTIC_STIMULUS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_DETECTION_OF_STIMULUS;GO_ACROSOME_REACTION;GO_FERTILIZATION;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REPRODUCTION;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_RESPONSE_TO_MECHANICAL_STIMULUS;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	.	GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_BINDING;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY;GO_CATION_CHANNEL_ACTIVITY	.	.	.	.	Cytoplasmic expression in a spermatogonia in testis	http://www.proteinatlas.org/ENSG00000130943-PKDREJ/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	skin: 0.4	.	.	BP4, PM2
L	22	50657884	rs79022493	G	T	222	PASS	TUBGCP6	Tubulin-gamma complex-associated protein 6	exonic	NM_020461	.	synonymous SNV	TUBGCP6:NM_020461:exon19:c.C4317A:p.S1439S	ENSG00000128159.11,ENST00000498611.5,ENST00000425018.1,ENST00000439308.6,ENST00000248846.9,ENST00000491449.5	CpG: 34	22q13.33	.	.	.	.	.	rs79022493	.	.	0.0332226	0.0258	0.00519169	.	0.00169454	215398	0.02458327	14278	0.02409639	0.02200704	0.0001,0.036	-0.1206	.	0.084,T	.	.	1,D	.	.	2.55,T	4.2421	-2.726	-1.619	.	.	.	VDB=0.540552;SGB=-0.692914;RPB=0.00414944;MQB=1.01563e-06;MQSB=0.134906;BQB=0.998957;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=61;DP4=9,11,19,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:38:.:.	0/0:50:.:.	0/0:42:.:.	0/1:45:255,0,255:20,25	G	T	0	1	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive	.	.	.	11258795|25344692|5936364|11694571|22279524	GO_CYTOPLASMIC_MICROTUBULE_ORGANIZATION;GO_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_REGULATION_OF_MICROTUBULE_BASED_PROCESS;GO_CYTOSKELETON_ORGANIZATION;GO_MICROTUBULE_NUCLEATION;GO_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MICROTUBULE_BASED_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_MITOTIC_SPINDLE_ASSEMBLY;GO_POSITIVE_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_ORGANELLE_FISSION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION;GO_PROTEIN_POLYMERIZATION;GO_POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CENTROSOME_CYCLE;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_MITOTIC_NUCLEAR_DIVISION;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_ORGANELLE_ASSEMBLY;GO_MITOTIC_SPINDLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_NEGATIVE_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_MEIOTIC_CELL_CYCLE;GO_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION;GO_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MICROTUBULE_POLYMERIZATION;GO_MEIOTIC_CELL_CYCLE_PROCESS;GO_SPINDLE_ASSEMBLY;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;GO_REGULATION_OF_PROTEIN_COMPLEX_DISASSEMBLY;GO_REPRODUCTION;GO_CENTROSOME_DUPLICATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_PROTEIN_POLYMERIZATION;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_CELL_CYCLE_PROCESS;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_MICROTUBULE_POLYMERIZATION	GO_MICROTUBULE_CYTOSKELETON;GO_SPINDLE_POLE;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_MICROTUBULE;GO_CYTOSKELETON;GO_CELL_DIVISION_SITE;GO_GAMMA_TUBULIN_COMPLEX;GO_SUPRAMOLECULAR_FIBER;GO_MICROTUBULE_ORGANIZING_CENTER_PART;GO_SPINDLE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_CYTOSKELETAL_PROTEIN_BINDING;GO_GAMMA_TUBULIN_BINDING;GO_PROTEIN_COMPLEX_BINDING;GO_MICROTUBULE_BINDING;GO_TUBULIN_BINDING;GO_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;GO_MACROMOLECULAR_COMPLEX_BINDING;GO_STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_RECRUITMENT_OF_NUMA_TO_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000128159-TUBGCP6/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	lymph node: 14.5	.	.	BP7
H	22	50726459	rs192965378	C	T	222	PASS	PLXNB2	Plexin B2	exonic	NM_012401	.	missense SNV	PLXNB2:NM_012401:exon6:c.G1388A:p.R463Q	ENST00000359337.8,ENSG00000196576.14,ENST00000432455.5,ENST00000411680.1,ENST00000449103.5	CpG: 35	22q13.33	.	.	.	.	.	rs192965378	.	.	0.0149502	0.0129	0.00259585	.	0.00080085	183556	0.01148041	12456	0.02178141	0.02123894	.	-0.3031	Sema domain;WD40/YVTN repeat-like-containing domain	0.011,D	0.339,B	0.89,P	0.986198,D	0.017685,N	1.635,L	3.49,T	10.6068	1.039	0.883	4.363709,24.1	2.98	.	VDB=0.000652134;SGB=-0.693147;RPB=0.984351;MQB=1.2453e-14;MQSB=0.418318;BQB=0.999666;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=231;DP4=35,75,27,49;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/1:105:255,0,255:59,46	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/1:81:255,0,255:51,30	C	T	0	2	Plexin B2, 604293	.	.	.	9205841|12183458|7889532|10520995	GO_NEURON_DEVELOPMENT;GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_EPITHELIUM_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_TISSUE_MORPHOGENESIS;GO_MORPHOGENESIS_OF_AN_EPITHELIUM;GO_NEURAL_TUBE_DEVELOPMENT;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_STEM_CELL_PROLIFERATION;GO_NEURAL_PRECURSOR_CELL_PROLIFERATION;GO_EMBRYO_DEVELOPMENT;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_CELL_PROLIFERATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_NEURON_MIGRATION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_TUBE_DEVELOPMENT;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_EMBRYONIC_MORPHOGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_HEAD_DEVELOPMENT;GO_TUBE_FORMATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE;GO_REGULATION_OF_CELL_ADHESION;GO_TUBE_MORPHOGENESIS;GO_CELL_PROJECTION_ORGANIZATION;GO_NEURON_DIFFERENTIATION;GO_NEURAL_TUBE_FORMATION;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEURON_PROJECTION_GUIDANCE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_NEUROBLAST_PROLIFERATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_AXONOGENESIS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_TISSUE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_CELL_SURFACE;GO_SEMAPHORIN_RECEPTOR_COMPLEX;GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY	KEGG_AXON_GUIDANCE	.	.	.	Most of the normal tissues showed moderate to strong cytoplasmic staining and in several cases nuclear positivity.	http://www.proteinatlas.org/ENSG00000196576-PLXNB2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 77.5	.	.	PM1
L	22	50898563	rs201348990	C	T	222	PASS	SBF1	SET-binding factor 1 (myotubularin-related protein 5)	exonic	NM_002972	.	synonymous SNV	SBF1:NM_002972:exon26:c.G3309A:p.T1103T	ENSG00000100241.20,ENST00000380817.7,ENST00000348911.10	CpG: 21	22q13.33	.	.	.	.	.	rs201348990	.	.	0.00664452	0.006	0.00119808	.	0.00078397	275522	0.01119245	18852	0.02001555	0.01766784	.	-0.0632	.	.	.	.	.	.	.	.	.	0.021	-1.241	2.279751,18.03	.	.	VDB=0.783786;SGB=-0.693147;RPB=0.695221;MQB=5.43017e-15;MQSB=2.84829e-07;BQB=0.912754;MQ0F=0;ICB=1;HOB=0.5;MQ=45;DP=559;DP4=152,90,147,75;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:106:.:.	0/0:101:.:.	0/1:236:255,0,255:121,115	0/0:213:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:228:255,0,255:121,107	C	T	0	2	Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive	.	.	.	24799518|21210780|9537414|12668758|9736772|23749797	GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_SEXUAL_REPRODUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_GAMETE_GENERATION;GO_DEPHOSPHORYLATION;GO_PROTEIN_DEPHOSPHORYLATION;GO_REPRODUCTION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_PROTEIN_TYROSINE_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;GO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GO_MOLECULAR_FUNCTION_REGULATOR;GO_ENZYME_REGULATOR_ACTIVITY;GO_PHOSPHATASE_REGULATOR_ACTIVITY;GO_RAB_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000100241-SBF1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 60.8	endoplasmic reticulum; vesicles	.	BP7
H	22	50941924	rs5770848	G	T	222	PASS	LMF2	.	exonic	NM_033200	.	missense SNV	LMF2:NM_033200:exon14:c.C2020A:p.R674S	ENST00000216080.5,ENSG00000100258.17,ENST00000474879.6,ENST00000504717.1	.	22q13.33	.	.	Score=817;Name=V$IRF2_01	.	.	rs5770848	.	.	0.0315615	0.0228	0.00479233	7.7e-05	0.00099344	245610	0.01298009	16872	0.00777605	0.00618375	.	.	.	0.052,T	0.002,B	0.001,B	0.999969,N	0.924288,N	1.1,L	1.53,T	5.2989	1.283	1.577	1.626042,13.99	2.76	.	VDB=0.598259;SGB=-0.693054;RPB=0.985777;MQB=4.96881e-08;MQSB=0.68942;BQB=0.979227;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=72;DP4=17,8,17,11;MinDP=43;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:43:.:.	0/0:50:.:.	0/0:47:.:.	0/0:51:.:.	0/1:53:255,0,255:25,28	G	T	0	1	.	.	.	.	.	.	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000100258-LMF2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	pancreas: 39.4	centrosome	.	.
H	22	50942132	rs777408872	T	TGGGA	206	PASS	LMF2	.	splicing	NM_033200	NM_033200:exon14:c.1816-4->TCCC	.	.	ENST00000216080.5,ENST00000504717.1,ENST00000474879.6,ENSG00000100258.17	.	22q13.33	.	.	.	.	.	rs777408872	.	.	.	.	.	.	0.00122111	226842	0.00755637	16410	0.00738725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447189,6.428	.	.	INDEL;VDB=0.0392772;SGB=-0.693079;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=148;DP4=76,0,51,0;IDV=29;IMF=0.349206;MinDP=32;AN=18;AC=2	GT:DP:PL:AD	0/0:32:.:.	0/0:50:.:.	0/1:77:226,0,255:48,28	0/0:57:.:.	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:56:.:.	0/1:50:239,0,251:28,22	T	TGGGA	0	2	.	.	.	.	.	.	GO_ENDOPLASMIC_RETICULUM_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_ENDOPLASMIC_RETICULUM	.	.	.	.	.	Cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000100258-LMF2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	pancreas: 39.4	centrosome	.	.
L	X	209713	rs748105914	A	G	222	PASS	PLCXD1	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1	exonic	NM_018390	.	synonymous SNV	PLCXD1:NM_018390:exon6:c.A561G:p.T187T	ENST00000399012.6,ENST00000381663.8,ENSG00000182378.13,ENST00000381657.7	CpG: 18	Xp22.33	.	.	.	Score=1;Name=chrY:94821	.	rs748105914	.	.	.	.	.	.	0.00002872	243734	0.00023250	17204	0.00077680	0.00088028	.	0.0721	.	.	.	.	.	.	.	.	.	-1.303	-0.886	.	.	.	VDB=0.193225;SGB=-0.693147;RPB=0.461913;MQB=9.76315e-15;MQSB=0.931826;BQB=0.319499;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=137;DP4=35,13,42,13;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:51:.:.	0/0:100:.:.	0/0:101:.:.	0/0:51:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:103:255,0,255:48,55	A	G	0	1	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1, 300974	.	.	.	22732399	GO_LIPID_METABOLIC_PROCESS	.	GO_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic positivity. A subset of lymphoid cells, throphoblastic cells, neuronal cells and epididymis were strongly stained.	http://www.proteinatlas.org/ENSG00000182378-PLCXD1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	stomach: 20.2	cytoplasm	.	BP7, PM2
L	X	1720027	rs58450457	C	T	222	PASS	AKAP17A	A kinase (PRKA) anchor protein 17A	exonic	NM_005088	.	missense SNV	AKAP17A:NM_005088:exon5:c.C1628T:p.P543L	ENST00000474361.6,ENSG00000197976.11,ENST00000313871.8	CpG: 252	Xp22.33	.	.	.	Score=0.999995;Name=chrY:1264234	.	rs58450457	.	.	0.0249169	0.0228	0.0273562	0.0067	0.01157329	276758	0.01940615	18860	0.01457443	0.01587302	.	.	.	0.003,D	0.166,B	0.614,P	1,N	0.356855,U	0.205,N	0.78,T	4.8688	0.367	1.136	3.083395,22.5	.	.	VDB=0.00940032;SGB=-0.693147;RPB=0.967264;MQB=8.47678e-17;MQSB=0.926865;BQB=0.559754;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=229;DP4=59,20,59,24;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:101:.:.	0/0:103:.:.	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/1:162:255,0,255:79,83	C	T	0	1	A kinase (PRKA) anchor protein 17A, 312095	.	.	.	1496421|1302606	GO_LEUKOCYTE_ACTIVATION;GO_IMMUNE_SYSTEM_PROCESS;GO_MRNA_PROCESSING;GO_CELL_ACTIVATION;GO_RNA_PROCESSING;GO_LYMPHOCYTE_ACTIVATION;GO_B_CELL_ACTIVATION;GO_MRNA_METABOLIC_PROCESS;GO_RNA_SPLICING;GO_REGULATION_OF_RNA_SPLICING	GO_NUCLEAR_SPECK;GO_NUCLEAR_BODY;GO_NUCLEOPLASM_PART;GO_SPLICEOSOMAL_COMPLEX;GO_RIBONUCLEOPROTEIN_COMPLEX	GO_PROTEIN_KINASE_A_BINDING;GO_POLY_A_RNA_BINDING;GO_RNA_BINDING	.	.	.	.	Ubiquitous nuclear expression.	http://www.proteinatlas.org/ENSG00000197976-AKAP17A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	spleen: 36.5	nucleus but not nucleoli; cytoplasm	.	BS2
L	X	1734143	rs17149149	C	A	222	PASS	ASMT	Acetylserotonin methyltransferase	exonic	NM_001171038,NM_001171039,NM_004043	.	missense SNV	ASMT:NM_001171038:exon1:c.C51A:p.N17K,ASMT:NM_001171039:exon1:c.C51A:p.N17K,ASMT:NM_004043:exon2:c.C51A:p.N17K	ENSG00000196433.12,ENST00000381233.8,ENST00000381229.9,ENST00000381241.8	.	Xp22.33	.	.	.	Score=0.999995;Name=chrY:1264234	.	rs17149149	.	.	0.0348837	0.0248	0.0163738	0.0008	0.00619437	245384	0.02712997	17066	0.03303537	0.03169014	.	-4.6077	Winged helix-turn-helix DNA-binding domain	0.044,D	0.892,P	0.996,D	0.999982,N	0.006803,U	2.8,M	0.66,T	5.9566	-0.713	-0.478	4.460511,24.2	.	.	VDB=0.0171818;SGB=-0.693054;RPB=0.861303;MQB=3.06968e-08;MQSB=0.731421;BQB=0.995144;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=183;DP4=45,16,50,9;MinDP=30;AN=18;AC=2	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:59:255,0,255:31,28	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/1:61:255,0,255:30,31	C	A	0	2	Acetylserotonin methyltransferase, 300015	.	Autism spectrum disorder(CM084747)	AAC-AAA|Asn17Lys|c.51C>A|p.N17K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=17505466&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=22775292&amp;dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=21251267&amp;dopt=Abstract)	17505466|22775292|21251267|8229515|8397829|8098975	GO_INDOLALKYLAMINE_METABOLIC_PROCESS;GO_REGULATION_OF_HORMONE_LEVELS;GO_PEPTIDE_METABOLIC_PROCESS;GO_AMINE_METABOLIC_PROCESS;GO_CELLULAR_HORMONE_METABOLIC_PROCESS;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_AMIDE_BIOSYNTHETIC_PROCESS;GO_HORMONE_BIOSYNTHETIC_PROCESS;GO_INDOLE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_METHYLATION;GO_HORMONE_METABOLIC_PROCESS;GO_AMINE_BIOSYNTHETIC_PROCESS	.	GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_O_METHYLTRANSFERASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS	KEGG_TRYPTOPHAN_METABOLISM	.	.	.	.	http://www.proteinatlas.org/ENSG00000196433-ASMT/tissue	FPKM<0.5 in all tissues <Not detected>	bone marrow: 0.4	.	.	BS1, PM1, PP5
H	X	2861193	rs756015600	G	A	222	PASS	ARSE	Arylsulfatase E	exonic	NM_000047,NM_001282628,NM_001282631	.	missense SNV	ARSE:NM_001282631:exon7:c.C904T:p.L302F,ARSE:NM_000047:exon8:c.C1039T:p.L347F,ARSE:NM_001282628:exon9:c.C1114T:p.L372F	ENST00000540563.5,ENSG00000157399.14,ENST00000545496.5,ENST00000381134.7	.	Xp22.33	.	.	.	.	.	rs756015600	.	.	.	.	.	.	0.00016478	200261	0.00237649	13886	0.00194336	.	.	0.8919	Alkaline phosphatase-like, alpha/beta/alpha;Alkaline-phosphatase-like, core domain;Sulfatase	0.501,T	0.401,B	0.563,P	0.747998,D	0.000020,D	1.41,L	-3.63,D	8.2574	1.608	0.939	1.061131,11.00	3.66	0.421641920462	VDB=0.548306;SGB=-0.690438;RPB=0.537676;MQB=0.000385503;MQSB=0.987952;BQB=0.988657;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=43;DP4=5,10,7,10;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:10:.:.	0/0:31:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:5:.:.	0/0:10:.:.	0/1:32:255,0,255:15,17	G	A	0	1	Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive	.	.	.	12567415|9497243|7720070|2722194|23470839|8845834|9409863	GO_SKELETAL_SYSTEM_DEVELOPMENT;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_SPHINGOLIPID_METABOLIC_PROCESS;GO_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;GO_GLYCOSPHINGOLIPID_METABOLIC_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_CELLULAR_LIPID_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_LIPOSACCHARIDE_METABOLIC_PROCESS;GO_MEMBRANE_LIPID_METABOLIC_PROCESS	GO_GOLGI_STACK;GO_GOLGI_APPARATUS_PART;GO_ENDOPLASMIC_RETICULUM_PART;GO_ENDOPLASMIC_RETICULUM_LUMEN;GO_GOLGI_APPARATUS;GO_ENDOPLASMIC_RETICULUM;GO_ORGANELLE_SUBCOMPARTMENT	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_SULFURIC_ESTER_HYDROLASE_ACTIVITY;GO_ARYLSULFATASE_ACTIVITY	.	.	.	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_THE_ACTIVATION_OF_ARYLSULFATASES;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	.	http://www.proteinatlas.org/ENSG00000157399-ARSE/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	pancreas: 25.2	.	.	PM2
H	X	15474088	.	C	A	222	PASS	PIR	Pirin	exonic	NM_001018109,NM_003662	.	missense SNV	PIR:NM_001018109:exon5:c.G363T:p.R121S,PIR:NM_003662:exon5:c.G363T:p.R121S	ENSG00000087842.10,ENST00000380421.3,ENST00000380420.9,ENST00000476381.5	.	Xp22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00038865	.	.	-0.2045	RmlC-like cupin domain;RmlC-like jelly roll fold	0.371,T	0.001,B	0.001,B	0.689345,D	0.000976,D	-0.56,N	1.03,T	5.0487	-0.273	0.032	1.988986,16.14	.	0.0104463473781	VDB=0.00211191;SGB=-0.693127;RPB=0.85539;MQB=5.70971e-08;MQSB=0.910596;BQB=0.913316;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=73;DP4=9,12,19,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:29:.:.	0/0:50:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:54:255,0,255:21,33	C	A	0	1	Pirin, 300931	.	.	.	9079676	GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_LEUKOCYTE_DIFFERENTIATION;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_LEUKOCYTE_DIFFERENTIATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_OXIDATION_REDUCTION_PROCESS;GO_MYELOID_CELL_DIFFERENTIATION;GO_MONOCYTE_DIFFERENTIATION	.	GO_DIOXYGENASE_ACTIVITY;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_SINGLE_DONORS_WITH_INCORPORATION_OF_MOLECULAR_OXYGEN;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY	.	.	BIOCARTA_ACTINY_PATHWAY	.	Cytoplasmic staining of moderate intensity was observed in most glandular and squamous epithelia. Lymphoid tissues, musclular tissue and cells of the CNS were in general negative.	http://www.proteinatlas.org/ENSG00000087842-PIR/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	urinary bladder: 20.8	cytoplasm	.	PM1, PM2
H	X	16608982	rs767206037	A	T	222	PASS	CTPS2	Cytidine 5-prime triphosphate synthetase 2	exonic	NM_001144002,NM_019857,NM_175859	.	missense SNV	CTPS2:NM_001144002:exon18:c.T1695A:p.D565E,CTPS2:NM_019857:exon18:c.T1695A:p.D565E,CTPS2:NM_175859:exon18:c.T1695A:p.D565E	ENST00000359276.8,ENST00000483053.1,ENST00000380241.7,ENST00000443824.5,ENSG00000047230.14	.	Xp22.2	.	.	.	.	.	rs767206037	.	.	.	.	.	.	.	.	.	.	0.00077730	.	.	1.5882	.	0.544,T	0.985,D	0.995,D	0.999976,N	0.000311,D	1.01,L	1.03,T	12.7836	-0.606	-0.372	2.634206,20.4	.	0.0315939487998	VDB=0.242515;SGB=-0.693021;RPB=0.848766;MQB=1.23062e-08;MQSB=0.869674;BQB=0.999433;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=101;DP4=17,30,13,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:49:.:.	0/0:50:.:.	0/0:10:.:.	0/0:10:.:.	0/0:11:.:.	0/0:10:.:.	0/1:74:255,0,255:47,27	A	T	0	1	Cytidine 5-prime triphosphate synthetase 2, 300380	.	.	.	10899599	GO_PYRIMIDINE_NUCLEOTIDE_BIOSYNTHETIC_PROCESS;GO_ALPHA_AMINO_ACID_METABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOSIDE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_BIOSYNTHETIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS;GO_GLUTAMINE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS;GO_RIBONUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_PYRIMIDINE_RIBONUCLEOTIDE_METABOLIC_PROCESS;GO_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_INTERCONVERSION;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_NUCLEOSIDE_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_BIOSYNTHETIC_PROCESS;GO_PYRIMIDINE_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS	GO_MITOCHONDRION	GO_RIBONUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;GO_ADENYL_NUCLEOTIDE_BINDING;GO_LIGASE_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_SYNTHESIS_AND_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000047230-CTPS2/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 11.1	nucleus but not nucleoli; cytoplasm	.	PM2
H	X	18582646	rs1060504367	G	GAT	110	PASS	CDKL5	Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9)	splicing	NM_001037343,NM_001323289,NM_003159	NM_001037343:exon5:c.145+4->AT;NM_001323289:exon3:c.145+4->AT;NM_003159:exon4:c.145+4->AT	.	.	ENST00000379989.6,ENST00000623364.3,ENST00000379996.7,ENST00000637881.1,ENST00000624700.3,ENST00000635828.1,ENST00000463994.4,ENSG00000008086.11,ENST00000623535.1	.	Xp22.13	.	.	.	.	.	rs1060504367	.	.	.	.	.	0.0265	0.04387937	86715	0.01227496	6110	0.01675868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.835221,8.371	.	.	INDEL;VDB=0.0498792;SGB=-0.662043;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=24;DP4=0,4,0,9;IDV=8;IMF=0.333333;MinDP=5;AN=8;AC=1	GT:DP:PL:AD	./.:.:.:.	0/0:11:.:.	./.:.:.:.	0/0:11:.:.	./.:.:.:.	0/0:5:.:.	./.:.:.:.	./.:.:.:.	0/1:13:143,0,67:4,6	G	GAT	0	1	Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant	.	.	.	16611748|21293276|16708070|18809835|19471977|21124335|12736870|17089071|16330482|15917271|9721213|16813600|19793311|21318334|19740913|17993579|19241098|19396824|15689447|15499549|17256798|15492925|21748340	GO_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_COMPONENT_SIZE;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_GROWTH;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_CELL_MOTILITY;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_AXON_EXTENSION;GO_REGULATION_OF_CELL_SIZE;GO_REGULATION_OF_CELL_CYCLE;GO_LOCOMOTION;GO_NEURON_MIGRATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH;GO_NEUROGENESIS;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_POSITIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DENDRITE_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_EXTENT_OF_CELL_GROWTH;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PROTEIN_AUTOPHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_REGULATION_OF_DENDRITE_DEVELOPMENT;GO_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION	GO_CYTOPLASMIC_REGION;GO_SITE_OF_POLARIZED_GROWTH;GO_CELL_PROJECTION_CYTOPLASM;GO_CELL_PROJECTION_MEMBRANE;GO_NEURON_PART;GO_LEADING_EDGE_MEMBRANE;GO_RUFFLE_MEMBRANE;GO_NEURON_PROJECTION;GO_PLASMA_MEMBRANE_REGION;GO_CELL_PROJECTION;GO_CELL_PROJECTION_PART;GO_SOMATODENDRITIC_COMPARTMENT;GO_RUFFLE;GO_DENDRITE_CYTOPLASM;GO_CELL_LEADING_EDGE;GO_MEMBRANE_REGION;GO_DENDRITE	GO_PROTEIN_KINASE_ACTIVITY;GO_RHO_GTPASE_BINDING;GO_KINASE_ACTIVITY;GO_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_RAC_GTPASE_BINDING;GO_ENZYME_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_GTPASE_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	Ubiquitous nuclear expression at variable levels. Most abundant in lymphoid tissues and glandular cells including the gastrointestinal tract.	http://www.proteinatlas.org/ENSG00000008086-CDKL5/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	testis: 8.3	nucleus but not nucleoli	.	BS1
H	X	19379454	.	T	TA	193	PASS	MAP3K15	Mitogen-activated protein kinase kinase kinase 15	splicing	NM_001001671	NM_001001671:exon28:c.3857+3->T	.	.	ENST00000359173.7,ENST00000518578.5,ENSG00000180815.14,ENST00000379806.9,ENST00000422285.6,ENSG00000131828.13,ENST00000545074.5,ENST00000338883.8,ENST00000540249.5,ENST00000470101.1	.	Xp22.12	.	.	.	.	.	.	.	.	.	.	.	.	0.00000577	173196	0.00007940	12595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.475651;SGB=-0.683931;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=50;DP=43;DP4=14,5,9,4;IDV=16;IMF=0.372093;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:32:226,0,225:19,13	T	TA	0	1	Mitogen-activated protein kinase kinase kinase 15, 300820	.	.	.	20362554	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_REGULATION_OF_MAPK_CASCADE;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_MAPK_CASCADE;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_MAP_KINASE_ACTIVITY;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_ACTIVATION_OF_MAPKK_ACTIVITY	.	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_PROTEIN_KINASE_ACTIVITY;GO_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_MAP_KINASE_KINASE_KINASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000180815-MAP3K15/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	spleen: 2.2	.	.	PM2
M	X	27840072	rs143483896	T	C	222	PASS	MAGEB10	Melanoma antigen, family B, 10	exonic	NM_182506	.	missense SNV	MAGEB10:NM_182506:exon3:c.T649C:p.C217R	ENST00000614159.1,ENST00000356790.2,ENSG00000177689.10	.	Xp21.3	.	.	.	.	.	rs143483896	.	.	0.0173913	0.0196	0.00397351	.	0.00200148	199852	0.02813152	13899	0.02565099	0.01940035	.	.	MAGE homology domain	1.0,T	0.101,B	0.11,B	0.999997,N	0.323432,U	0.615,N	3.63,T	6.2242	1.262	0.062	.	2.62	.	VDB=0.246126;SGB=-0.693143;RPB=0.491116;MQB=1.30604e-10;MQSB=0.989044;BQB=0.379898;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=104;DP4=24,11,26,12;MinDP=15;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:15:.:.	0/1:73:255,0,255:35,38	T	C	0	1	Melanoma antigen, family B, 10, 300761	.	.	.	11454705	.	.	.	.	.	.	.	Distinct positivity in endothelial cells. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000177689-MAGEB10/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4, PM1
L	X	34961201	rs189661576	G	A	222	PASS	FAM47B	.	exonic	NM_152631	.	missense SNV	FAM47B:NM_152631:exon1:c.G253A:p.G85S	ENST00000329357.6,ENSG00000189132.6	.	Xp21.1	.	.	.	Score=0.896562;Name=chrX:37021502	.	rs189661576	.	.	0.0217391	0.017	0.00344371	.	0.00135301	200294	0.01890047	13915	0.01828082	0.00793651	.	.	.	0.803,T	0.007,B	0.041,B	1,N	.	1.53,L	1.86,T	5.0147	-2.666	0.170	.	.	.	VDB=0.408658;SGB=-0.693147;RPB=0.0134064;MQB=3.61997e-25;MQSB=0.333929;BQB=0.665574;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=516;DP4=128,82,120,56;MinDP=50;AN=18;AC=2	GT:DP:PL:AD	0/0:101:.:.	0/0:100:.:.	0/1:189:255,0,255:114,75	0/0:100:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/1:197:255,0,255:96,101	G	A	0	2	.	.	.	.	.	.	.	.	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000189132-FAM47B/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4
L	X	37027438	rs200865878	C	T	222	PASS	FAM47C	.	exonic	NM_001013736	.	missense SNV	FAM47C:NM_001013736:exon1:c.C955T:p.R319C	ENST00000358047.4,ENSG00000198173.4	.	Xp21.1	.	.	.	Score=0.896562;Name=chrX:34955671	.	rs200865878	.	.	0.00434783	0.0039	0.000794702	9.5e-05	0.00040271	198652	0.00542613	13822	0.00466926	.	.	.	.	0.267,T	0.099,B	0.931,P	1,N	.	1.845,L	2.0,T	2.8818	-1.156	-0.765	2.443029,19.10	.	0.00160259478996	VDB=0.0394021;SGB=-0.693147;RPB=0.573168;MQB=1.69789e-38;MQSB=0.0172519;BQB=0.842065;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=447;DP4=119,68,116,24;MinDP=100;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:100:.:.	0/0:101:.:.	0/1:327:255,0,255:187,140	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000198173-FAM47C/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	.
H	X	47099697	rs370020296	C	T	222	PASS	USP11	Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase)	splicing	NM_004651	NM_004651:exon5:c.665-7C>T	.	.	ENST00000218348.7,ENST00000469080.5,ENST00000377080.7,ENST00000478596.5,ENST00000377078.2,ENSG00000102226.9,ENST00000377107.6	.	Xp11.23	.	.	.	.	.	rs370020296	.	.	.	.	.	9.5e-05	0.00001180	169517	0.00008029	12455	.	.	0,0.002	0.1564	.	.	.	.	.	.	.	.	.	-0.351	0.849	.	.	.	VDB=0.765436;SGB=-0.693147;RPB=0.0261667;MQB=6.57542e-26;MQSB=0.946541;BQB=0.402196;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=232;DP4=73,20,73,20;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:186:255,0,255:93,93	C	T	0	1	Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase), 300050	.	.	.	9931462|8845848	GO_CELLULAR_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_PROTEIN_CATABOLIC_PROCESS;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_PROTEOLYSIS	.	GO_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;GO_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY;GO_THIOL_DEPENDENT_UBIQUITIN_SPECIFIC_PROTEASE_ACTIVITY;GO_UBIQUITIN_LIKE_PROTEIN_SPECIFIC_PROTEASE_ACTIVITY;GO_ENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_ASSOCIATION_OF_TRIC_CCT_WITH_TARGET_PROTEINS_DURING_BIOSYNTHESIS;REACTOME_PROTEIN_FOLDING;REACTOME_METABOLISM_OF_PROTEINS	Cytoplasmic and nuclear expression in selected cell types including neurons and subsets of basal seminiferus duct cells.	http://www.proteinatlas.org/ENSG00000102226-USP11/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	cerebral cortex: 102.7	nucleus but not nucleoli; cytoplasm	.	PM2
L	X	48214678	rs201833765	C	T	222	PASS	SSX3	Synovial sarcoma, X breakpoint 3	exonic	NM_021014	.	missense SNV	SSX3:NM_021014:exon2:c.G7A:p.G3R	ENST00000612497.1,ENST00000376893.7,ENST00000298396.6,ENSG00000165584.15	.	Xp11.23	.	.	.	Score=0.962173;Name=chrX:52761123	.	rs201833765	.	.	0.00652174	0.0039	0.0013245	0.0002	0.00069502	199994	0.00561798	13884	0.00817121	0.00530035	.	-5.2458	.	0.571,T	0.271,B	0.832,P	1,N	0.764110,N	0.76,N	2.98,T	3.1107	0.081	0.073	.	.	.	VDB=0.283175;SGB=-0.693147;RPB=0.996625;MQB=2.48952e-23;MQSB=0.999092;BQB=0.849795;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=213;DP4=51,25,57,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:102:.:.	0/0:101:.:.	0/0:100:.:.	0/0:102:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:162:255,0,255:76,86	C	T	0	1	Synovial sarcoma, X breakpoint 3, 300325	.	.	.	8697803|9378559	GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS	.	GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_TRANSCRIPTION_COREPRESSOR_ACTIVITY	.	.	.	.	Nuclear expression in testis.	http://www.proteinatlas.org/ENSG00000165584-SSX3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	.
H-	X	54964165	rs34339145	T	A	222	PASS	PFKFB1	Fructose-2,6-bisphosphatase	splicing	NM_001271804,NM_001271805,NM_002625	NM_001271804:exon11:c.1033-8A>T;NM_001271805:exon10:c.904-8A>T;NM_002625:exon11:c.1099-8A>T	.	.	ENST00000375006.7,ENST00000545676.5,ENST00000374992.6,ENSG00000158571.10,ENST00000614686.1	.	Xp11.21	.	.	.	.	.	rs34339145	.	.	0.0391304	0.0275	0.00847682	0.0003	0.00417214	191988	0.03101177	13511	0.03382582	0.02738516	0,0.008	17.1530	.	.	.	.	.	.	.	.	.	-1.268	0.327	.	.	.	VDB=0.00706997;SGB=-0.670168;RPB=0.934851;MQB=0.000497824;MQSB=0.85797;BQB=0.974027;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=117;DP4=22,28,15,24;MinDP=10;AN=18;AC=2	GT:PL:DP:AD	0/1:223,0,255:29:19,10	0/0:.:30:.	0/0:.:31:.	0/0:.:52:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/0:.:10:.	0/1:255,0,255:60:31,29	T	A	0	2	Fructose-2,6-bisphosphatase, 311790	.	.	.	2837207|9119406|2856848|1655632|2574501	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_CARBOHYDRATE_CATABOLIC_PROCESS;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_NUCLEOTIDE_PHOSPHORYLATION;GO_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANOPHOSPHORUS;GO_ORGAN_REGENERATION;GO_RESPONSE_TO_STEROID_HORMONE;GO_RESPONSE_TO_PEPTIDE;GO_RESPONSE_TO_CORTICOSTEROID;GO_REGULATION_OF_KINASE_ACTIVITY;GO_COFACTOR_METABOLIC_PROCESS;GO_ATP_GENERATION_FROM_ADP;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_MONOSACCHARIDE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_PHOSPHORYLATION;GO_REGENERATION;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_NAD_METABOLIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_ADP_METABOLIC_PROCESS;GO_HEXOSE_CATABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_RESPONSE_TO_GLUCAGON;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_RESPONSE_TO_INSULIN;GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_CAMP;GO_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_HEXOKINASE_ACTIVITY;GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS;GO_OXIDATION_REDUCTION_PROCESS;GO_NADH_METABOLIC_PROCESS;GO_RESPONSE_TO_LIPID;GO_SMALL_MOLECULE_CATABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_GLUCOSE_METABOLIC_PROCESS;GO_CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLYCOSYL_COMPOUND_METABOLIC_PROCESS;GO_DEPHOSPHORYLATION;GO_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;GO_HEXOSE_METABOLIC_PROCESS;GO_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_PYRUVATE_METABOLIC_PROCESS;GO_PHOSPHORYLATION;GO_SINGLE_ORGANISM_CATABOLIC_PROCESS;GO_CATABOLIC_PROCESS;GO_GLUCOSE_CATABOLIC_PROCESS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_RESPONSE_TO_STARVATION;GO_RESPONSE_TO_PURINE_CONTAINING_COMPOUND;GO_RIBONUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS;GO_FRUCTOSE_METABOLIC_PROCESS	GO_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GO_CYTOSOLIC_PART;GO_TRANSFERASE_COMPLEX;GO_CATALYTIC_COMPLEX	GO_CARBOHYDRATE_PHOSPHATASE_ACTIVITY;GO_KINASE_BINDING;GO_KINASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;GO_CARBOHYDRATE_KINASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RIBONUCLEOTIDE_BINDING;GO_ENZYME_BINDING;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM	.	.	REACTOME_GLYCOLYSIS;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	.	http://www.proteinatlas.org/ENSG00000158571-PFKFB1/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	esophagus: 0.8	.	.	BS1
H	X	64722106	rs753593798	A	C	222	PASS	ZC3H12B	Zinc finger CCCH domain-containing protein 12B	exonic	NM_001010888	.	missense SNV	ZC3H12B:NM_001010888:exon5:c.A1528C:p.M510L	ENSG00000102053.12,ENST00000338957.4	.	Xq12	.	.	Score=871;Name=V$TAL1ALPHAE47_01	.	.	rs753593798	.	.	.	.	.	.	0.00000560	178604	0.00007770	12870	0.00038865	.	.	.	.	0.234,T	0.001,B	0.0,B	0.753035,D	0.003644,N	0.55,N	2.0,T	12.6928	1.880	3.265	.	5.11	0.00227541177007	VDB=0.010024;SGB=-0.693147;RPB=0.437602;MQB=1.23668e-19;MQSB=0.92987;BQB=0.582643;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=152;DP4=29,31,34,27;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:50:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:121:255,0,255:60,61	A	C	0	1	Zinc finger CCCH domain-containing protein 12B, 300889	.	.	.	18178554	GO_NUCLEIC_ACID_PHOSPHODIESTER_BOND_HYDROLYSIS	.	GO_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;GO_NUCLEASE_ACTIVITY;GO_ENDONUCLEASE_ACTIVITY	.	.	.	.	Weak to moderate cytoplasmic staining was observed in glandular epithelia and lymphoid tissues. Remaining normal tissues were in general negative.	http://www.proteinatlas.org/ENSG00000102053-ZC3H12B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	cerebral cortex: 2.3	endoplasmic reticulum; golgi apparatus; vesicles	.	PM2
L	X	66766356	.	TGGC	T	225	PASS	AR	Androgen receptor (dihydrotestosterone receptor)	exonic	NM_000044,NM_001348061,NM_001348063,NM_001348064	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1371del:p.457_457del,AR:NM_001348061:exon1:c.1369_1371del:p.457_457del,AR:NM_001348063:exon1:c.1369_1371del:p.457_457del,AR:NM_001348064:exon1:c.1369_1371del:p.457_457del	ENSG00000169083.16,ENST00000514029.5,ENST00000612010.4,ENST00000504326.5,ENST00000612452.4,ENST00000513847.5,ENST00000396044.7,ENST00000613054.2,ENST00000374690.8	.	Xq12	.	.	.	.	Score=492;Name="5106744:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	0.01513683	48491	0.01668985	1438	0.04995987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.070915,0.172	.	.	INDEL;VDB=6.16412e-06;SGB=-0.689466;MQSB=1;MQ0F=0;ICB=1;HOB=0.5;MQ=49;DP=165;DP4=12,0,81,2;IDV=30;IMF=0.681818;MinDP=10;AN=18;AC=3	GT:DP:PL:AD	0/0:32:.:.	0/0:27:231,.,.:11,.	0/0:34:.:.	2/2:15:255,.,.,45,.,0,.,.,.,.:0,.,15,.	0/0:22:229,.,.:1,.	0/0:10:.:.	0/0:11:.:.	0/0:15:.:.	2/1:31:255,255,232,255,.,229,.,.,.,.:0,15,15,.	TGGCGGCGGCGGC	T,TGGCGGCGGC,TGGCGGCGGCGGCGGC	1	1	Androgen insensitivity, 300068 (3), X-linked recessive; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive	.	.	.	11152658|11331614|15472213|11875046|8097257|1307250|8040309|7537149|8824883|1303195|26305679|11549642|9106550|11238515|2563196|3186717|9345099|15198988|11145738|9384612|12788064|10770223|11809726|1589758|12393801|11935317|3353726|19684044|17259306|8961263|8823308|11788673|8182772|10234512|12783846|17684052|10466666|1740333|8530589|16098017|8187068|4369847|11479228|9354422|9096391|11317353|15146455|9016528|8594566|1734252|3346354|2918059|15657128|8954049|11397856|11788641|9627582|10485299|9360511|10999816|10590024|3088020|12843184|15961403|8809734|2333898|7728763|12810069|8990010|6480803|10085091|12372280|6332533|182718|8446106|4831711|11702204|1598912|10323251|9813160|15522944|10589774|10398229|9580659|2062380|12824190|18252782|12970260|12593864|4061484|3866227|12165558|10749991|6169369|8281139|8096390|2594783|3216866|3353727|8626869|11436124|8213813|8450042|12812978|2293020|2332504|1856263|10958659|1779964|21390129|12189162|10522976|2010552|8421085|1430233|9177411|12843171|9499423|12514133|10999852|6947233|11889162|17984063|11103816|19279159|12682377|7581399|1569163|8325932|14576152|20869592|1631125|11579211|18723679|599929|10543676|11381259|7937057|6333813|3605226|7294064|15001585|12466388|1609793|1347772|18824496|2236003|8768864|12213902|2339702|10999818|12480537|8292051|18303071|11931767|16373508|10587588|15003169|11053270|8240973|27226492|8683794|14527432|12372281|7723794|12651870|2911578|1720929|9360540|12908100|7795646|11397858|16403814|16137620|9851768|9543136|11751688|16804045|11397855|2885254|8108393|6541981|7723802|1303262|12838569|23945587|12370412|16981011|7951325|10323385|15956082|11600555|12727953|15579779|8450040	GO_RESPONSE_TO_STEROID_HORMONE;GO_CELLULAR_RESPONSE_TO_LIPID;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CELL_CELL_SIGNALING;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_PROTEIN_OLIGOMERIZATION;GO_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;GO_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_CELL_PROLIFERATION;GO_RESPONSE_TO_HORMONE;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_DNA_TEMPLATED_TRANSCRIPTION_INITIATION;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_POSITIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_GROWTH;GO_RESPONSE_TO_LIPID;GO_REGULATION_OF_PLASMA_MEMBRANE_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS;GO_SEX_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE;GO_STEROID_HORMONE_MEDIATED_SIGNALING_PATHWAY;GO_UROGENITAL_SYSTEM_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_CELLULAR_RESPONSE_TO_ENDOGENOUS_STIMULUS;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_GLAND_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_PROSTATE_GLAND_DEVELOPMENT;GO_REPRODUCTION;GO_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_GROWTH;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CELL_PROLIFERATION	GO_CHROMOSOME;GO_NUCLEAR_CHROMOSOME;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN	GO_BETA_CATENIN_BINDING;GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_STEROID_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_DIRECT_LIGAND_REGULATED_SEQUENCE_SPECIFIC_DNA_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_STEROID_HORMONE_RECEPTOR_ACTIVITY;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_ATPASE_BINDING;GO_DOUBLE_STRANDED_DNA_BINDING;GO_TRANSITION_METAL_ION_BINDING;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_HORMONE_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTION_FACTOR_BINDING;GO_ENZYME_BINDING;GO_ZINC_ION_BINDING;GO_RECEPTOR_ACTIVITY;GO_CHROMATIN_BINDING;GO_LIPID_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING;GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING;GO_RECEPTOR_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING;GO_MACROMOLECULAR_COMPLEX_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEAR_PATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETA_CATENIN_NUC_PATHWAY;PID_HNF3A_PATHWAY;PID_HES_HEY_PATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	Nuclear expression in several tissues, mainly in reproductive organs.	http://www.proteinatlas.org/ENSG00000169083-AR/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	endometrium: 22.5	.	.	BP3
H	X	70887792	rs906309151	C	T	222	PASS	LOC101059915	.	exonic	NM_001323075	.	missense SNV	LOC101059915:NM_001323075:exon1:c.C139T:p.R47C	ENST00000636797.2,ENST00000636096.2,ENSG00000283599.2	CpG: 24	Xq13.1	.	.	.	.	.	rs906309151	.	.	.	.	.	.	0.00009337	21421	.	.	0.00043215	.	.	.	.	.	.	.	.	.	.	.	.	-0.433	-0.626	.	.	.	VDB=0.0435495;SGB=-0.692914;RPB=0.0465817;MQB=4.24986e-06;MQSB=0.246448;BQB=0.87538;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=66;DP4=21,2,19,6;MinDP=10;AN=16;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:51:.:.	./.:.:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:48:255,0,255:23,25	C	T	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
L	X	73524557	rs139445685	A	G	222	PASS	ZCCHC13	.	exonic	NM_203303	.	synonymous SNV	ZCCHC13:NM_203303:exon1:c.A456G:p.L152L	ENST00000339534.3,ENSG00000187969.5	.	Xq13.2	.	.	.	.	.	rs139445685	.	.	0.0108696	0.0105	0.010596	0.0013	0.00879936	199901	0.01621739	13874	0.01049359	0.00883392	.	.	.	.	.	.	.	.	.	.	.	-0.016	6.367	1.020266,10.78	.	.	VDB=0.171982;SGB=-0.693143;RPB=0.829718;MQB=2.74128e-06;MQSB=0.282915;BQB=0.124688;MQ0F=0;ICB=1;HOB=0.5;MQ=46;DP=98;DP4=7,26,18,20;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:52:.:.	0/0:50:.:.	0/0:50:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:31:.:.	0/1:71:255,0,255:33,38	A	G	0	1	.	.	.	.	.	.	.	GO_TRANSITION_METAL_ION_BINDING;GO_ZINC_ION_BINDING	.	.	.	.	Distinct expression in a subset of spermatocytes and spermatids.	http://www.proteinatlas.org/ENSG00000187969-ZCCHC13/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP7
L	X	73749146	rs183504350	C	T	222	PASS	SLC16A2	Solute carrier family 16 (monocarboxylic acid transporters), member 2	exonic	NM_006517	.	synonymous SNV	SLC16A2:NM_006517:exon5:c.C1269T:p.C423C	ENST00000636771.1,ENST00000587091.5,ENST00000590447.1,ENSG00000147100.10	.	Xq13.2	.	.	.	.	.	rs183504350	.	.	0	.	0.000264901	.	0.00000566	176805	.	.	.	.	.	-0.1471	.	.	.	.	.	.	.	.	.	-3.206	-1.396	1.257858,12.05	.	.	VDB=0.447906;SGB=-0.69312;RPB=0.916764;MQB=6.19902e-09;MQSB=0.978718;BQB=0.981252;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=100;DP4=25,16,18,14;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/1:73:255,0,255:41,32	C	T	0	1	Allan-Herndon-Dudley syndrome, 300523 (3), X-linked dominant	.	.	.	1605231|9545634|14661163|16709608|12871948|15488219|18398436|18187543|7981683|15980113|8484404|18687783|15889350|17318265|20705735|19641107	GO_ION_TRANSPORT;GO_MODIFIED_AMINO_ACID_TRANSPORT;GO_REGULATION_OF_HORMONE_LEVELS;GO_HORMONE_TRANSPORT;GO_ORGANIC_ACID_TRANSPORT;GO_ANION_TRANSPORT;GO_NITROGEN_COMPOUND_TRANSPORT;GO_ORGANIC_ANION_TRANSPORT;GO_MONOCARBOXYLIC_ACID_TRANSPORT;GO_TRANSMEMBRANE_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_MODIFIED_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_MONOCARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_SYMPORTER_ACTIVITY;GO_TRANSPORTER_ACTIVITY	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000147100-SLC16A2/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	liver: 27.7	.	.	BP7, PM2
L	X	76907739	.	T	C	222	PASS	ATRX	ATR-X gene (helicase 2; X-linked nuclear protein)	exonic	NM_000489,NM_138270	.	synonymous SNV	ATRX:NM_138270:exon14:c.A4308G:p.G1436G,ATRX:NM_000489:exon15:c.A4422G:p.G1474G	ENST00000480283.5,ENST00000395603.7,ENST00000623242.3,ENST00000373344.9,ENSG00000085224.21	.	Xq21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4469	.	.	.	.	.	.	.	.	.	1.608	0.729	.	3.65	.	VDB=0.701867;SGB=-0.693079;RPB=0.478879;MQB=4.40503e-10;MQSB=0.87725;BQB=0.995352;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=79;DP4=18,16,17,12;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/1:63:255,0,255:34,29	T	C	0	1	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive	.	.	.	10398237|15508018|1684092|10602370|16813605|16955409|17957225|11823444|15668733|10699177|12673795|9499421|10398234|3239563|19764021|25938714|25593184|9326931|11449489|10742099|12858175|7697714|10632111|21719641|6881169|6711605|15591283|21252315|7506096|21029860|16222662|10417298|9598720|6682021|10570185|19088125|17503331|17296936|11069290|8968741|9545503|12068376|7726224|22286061|3658675|7874112|11050622|17579672|10204841|10751095|8630485|9043863|9244431|8644709|10995512|273430|15565397|12116232	GO_DNA_DEPENDENT_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY;GO_CHROMOSOME_ORGANIZATION;GO_RESPONSE_TO_NITROGEN_COMPOUND;GO_POSITIVE_REGULATION_OF_DNA_REPLICATION;GO_EPITHELIUM_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_DNA_DEPENDENT_DNA_REPLICATION;GO_NEGATIVE_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_NUCLEAR_DIVISION;GO_DNA_DEPENDENT_DNA_REPLICATION;GO_EPITHELIAL_CELL_DEVELOPMENT;GO_SERTOLI_CELL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_FORELIMB_MORPHOGENESIS;GO_MALE_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_FOREBRAIN_DEVELOPMENT;GO_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_REGULATION_OF_NUCLEAR_CELL_CYCLE_DNA_REPLICATION;GO_CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_POSITIVE_REGULATION_OF_DNA_DEPENDENT_DNA_REPLICATION;GO_DNA_CONFORMATION_CHANGE;GO_SEXUAL_REPRODUCTION;GO_REGULATION_OF_TELOMERE_MAINTENANCE;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_REGULATION_OF_HOMEOSTATIC_PROCESS;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_DNA_MODIFICATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_DNA_REPAIR;GO_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE;GO_REGULATION_OF_CHROMOSOME_SEGREGATION;GO_CHROMATIN_MODIFICATION;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_PROTEIN_LOCALIZATION_TO_CHROMOSOME_TELOMERIC_REGION;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PROTEIN_LOCALIZATION_TO_CHROMOSOME;GO_POST_EMBRYONIC_MORPHOGENESIS;GO_APPENDAGE_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS;GO_MULTICELLULAR_ORGANISM_GROWTH;GO_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_CELL_DIVISION;GO_REGULATION_OF_CELL_CYCLE;GO_TUBE_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_DNA_RECOMBINATION;GO_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND;GO_REGULATION_OF_DNA_METABOLIC_PROCESS;GO_GROWTH;GO_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE;GO_HEAD_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE;GO_SEX_DIFFERENTIATION;GO_DNA_METHYLATION_OR_DEMETHYLATION;GO_MULTI_ORGANISM_REPRODUCTIVE_PROCESS;GO_DNA_GEOMETRIC_CHANGE;GO_PROTEIN_LOCALIZATION_TO_ORGANELLE;GO_GAMETE_GENERATION;GO_POSITIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_NUCLEAR_DIVISION;GO_REGULATION_OF_CHROMOSOME_ORGANIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PROTEIN_DNA_COMPLEX_SUBUNIT_ORGANIZATION;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_DNA_REPLICATION;GO_REGULATION_OF_SISTER_CHROMATID_COHESION;GO_CHROMATIN_REMODELING;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_REPRODUCTION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_CELLULAR_RESPONSE_TO_STRESS;GO_EPITHELIAL_CELL_DIFFERENTIATION;GO_METHYLATION;GO_CELL_DEVELOPMENT;GO_MACROMOLECULE_METHYLATION;GO_MULTICELLULAR_ORGANISM_REPRODUCTION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_SERTOLI_CELL_DIFFERENTIATION;GO_DNA_PACKAGING;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_CELL_CYCLE;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_DNA_REPLICATION_INDEPENDENT_NUCLEOSOME_ORGANIZATION;GO_CELLULAR_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_POST_EMBRYONIC_DEVELOPMENT;GO_DNA_REPLICATION;GO_REGULATION_OF_SISTER_CHROMATID_SEGREGATION;GO_TISSUE_DEVELOPMENT;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_DEVELOPMENTAL_GROWTH;GO_DNA_METABOLIC_PROCESS;GO_MALE_SEX_DIFFERENTIATION;GO_DNA_ALKYLATION;GO_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_NUCLEAR_CHROMOSOME_TELOMERIC_REGION;GO_CHROMOSOME;GO_CHROMOSOME_CENTROMERIC_REGION;GO_CHROMOSOMAL_REGION;GO_NUCLEAR_BODY;GO_PML_BODY;GO_NUCLEAR_CHROMOSOME;GO_SWI_SNF_SUPERFAMILY_TYPE_COMPLEX;GO_CHROMATIN;GO_NUCLEAR_CHROMATIN;GO_PERICENTRIC_HETEROCHROMATIN;GO_NUCLEAR_HETEROCHROMATIN;GO_NUCLEOPLASM_PART;GO_HETEROCHROMATIN;GO_CHROMOSOME_TELOMERIC_REGION	GO_HISTONE_BINDING;GO_METHYLATED_HISTONE_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_HELICASE_ACTIVITY;GO_DNA_DEPENDENT_ATPASE_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_CHROMATIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_DNA_HELICASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	General nuclear expression.	http://www.proteinatlas.org/ENSG00000085224-ATRX/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	ovary: 22.2	nucleus but not nucleoli	.	PM2
L	X	79932417	rs140852252	A	G	222	PASS	BRWD3	Bromodomain-and WD repeat-containing protein 3	exonic	NM_153252	.	synonymous SNV	BRWD3:NM_153252:exon41:c.T5100C:p.G1700G	ENST00000373275.4,ENSG00000165288.10	.	Xq21.1	.	.	.	.	Score=208;Name="5128319:CT-rich(Low_complexity)"	rs140852252	Likely benign|Likely benign;not_specified|Non-syndromic_X-linked_intellectual_disability;RCV000116503.2|RCV000399425.1;MedGen|MedGen:Orphanet;CN169374|C3501611:ORPHA777	.	0.0434783	0.0353	0.0127152	0.0053	0.00762559	196575	0.02974879	13614	0.01807932	0.01848592	.	.	.	.	.	.	.	.	.	.	.	0.543	2.781	.	2.31	.	VDB=0.298813;SGB=-0.693054;RPB=0.543193;MQB=4.66802e-07;MQSB=0.757206;BQB=0.67945;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=74;DP4=15,15,18,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:52:.:.	0/0:50:.:.	0/0:53:.:.	0/0:10:.:.	0/0:30:.:.	0/0:23:.:.	0/0:30:.:.	0/1:58:255,0,255:30,28	A	G	0	1	Mental retardation, X-linked 93, 300659 (3), X-linked recessive	.	.	.	17668385|7943039|15543602|16094372|19377476	GO_CYTOSKELETON_ORGANIZATION;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELL_SHAPE;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	.	.	.	.	.	Most normal tissues displayed weak to moderate cytoplasmic positivity. Membranous positivity was detected in several glandular epithelia as well as in pneumocytes.	http://www.proteinatlas.org/ENSG00000165288-BRWD3/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	skin: 4.8	nucleus but not nucleoli; cytoplasm	.	BP6
H	X	100880072	.	A	G	222	PASS	ARMCX3	Armadillo repeat containing, X-linked 3	exonic	NM_016607,NM_177947,NM_177948	.	missense SNV	ARMCX3:NM_016607:exon5:c.A103G:p.K35E,ARMCX3:NM_177947:exon5:c.A103G:p.K35E,ARMCX3:NM_177948:exon5:c.A103G:p.K35E	ENST00000479298.5,ENST00000537169.1,ENST00000491568.6,ENSG00000102401.19,ENST00000341189.8,ENST00000471229.6	.	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Armadillo-like helical	0.595,T	0.019,B	0.068,B	0.598437,D	0.000161,D	-0.27,N	1.83,T	8.5886	1.848	2.468	1.808041,15.03	4.12	0.00897804051135	VDB=0.657171;SGB=-0.693139;RPB=0.978336;MQB=8.42072e-12;MQSB=0.720511;BQB=0.934688;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=94;DP4=38,3,31,5;MinDP=29;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/0:30:.:.	0/0:31:.:.	0/0:29:.:.	0/0:30:.:.	0/1:77:255,0,255:41,36	A	G	0	1	Armadillo repeat containing, X-linked 3, 300364	.	.	.	11162520	GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PROTEIN_LOCALIZATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_OUTER_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE;GO_MITOCHONDRIAL_MEMBRANE_PART;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION;GO_OUTER_MEMBRANE;GO_INTRINSIC_COMPONENT_OF_MITOCHONDRIAL_MEMBRANE;GO_ENVELOPE;GO_MITOCHONDRIAL_ENVELOPE	.	.	.	.	.	Cytoplasmic expression in a subset of tissues including the CNS, testis and liver.	http://www.proteinatlas.org/ENSG00000102401-ARMCX3/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	adrenal gland: 57.5	nucleus but not nucleoli; cytoplasm; golgi apparatus	.	PM1, PM2
M	X	103495115	.	C	G	91	PASS	ESX1	.	exonic	NM_153448	.	missense SNV	ESX1:NM_153448:exon4:c.G1015C:p.V339L	ENST00000372588.4,ENSG00000123576.5	CpG: 34	Xq22.2	.	.	.	.	.	.	.	.	.	.	.	.	0.01305458	21142	0.01041667	1440	0.04759060	0.02292769	.	.	.	0.229,T	0.002,B	0.004,B	1,N	.	1.15,L	0.09,T	1.8786	-3.121	-5.386	.	.	0.00884910530582	VDB=0.149064;SGB=-0.636426;RPB=0.0261774;MQB=0.146993;MQSB=0.106363;BQB=0.933674;MQ0F=0;ICB=1;HOB=0.5;MQ=36;DP=61;DP4=17,14,4,15;MinDP=10;AN=16;AC=3	GT:DP:PL:AD	0/0:20:.:.	0/1:16:113,0,152:9,7	0/0:14:.:.	0/1:16:124,0,199:10,6	0/0:10:.:.	0/0:10:.:.	./.:.:.:.	0/0:10:.:.	0/1:18:101,0,168:12,6	C	G	0	3	.	.	.	.	.	GO_LABYRINTHINE_LAYER_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_PLACENTA_BLOOD_VESSEL_DEVELOPMENT;GO_EMBRYO_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_DEVELOPMENT;GO_IN_UTERO_EMBRYONIC_DEVELOPMENT;GO_REPRODUCTIVE_SYSTEM_DEVELOPMENT;GO_LABYRINTHINE_LAYER_BLOOD_VESSEL_DEVELOPMENT;GO_REGULATION_OF_CELL_CYCLE;GO_EMBRYONIC_MORPHOGENESIS;GO_VASCULATURE_DEVELOPMENT;GO_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION;GO_PLACENTA_DEVELOPMENT;GO_REPRODUCTION;GO_EMBRYONIC_ORGAN_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_CIRCULATORY_SYSTEM_DEVELOPMENT;GO_EMBRYONIC_PLACENTA_MORPHOGENESIS;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_DOUBLE_STRANDED_DNA_BINDING;GO_SEQUENCE_SPECIFIC_DNA_BINDING	.	.	.	.	Nuclear expression in spermatogonia in testis	http://www.proteinatlas.org/ENSG00000123576-ESX1/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to all other tissues <Tissue enriched>	.	.	.	BP4
H	X	106097468	rs202142436	G	A	222	PASS	TBC1D8B	.	exonic	NM_017752	.	missense SNV	TBC1D8B:NM_017752:exon14:c.G2294A:p.R765H	ENSG00000133131.14,ENSG00000133138.19,ENST00000604604.1,ENST00000276175.7,ENST00000431860.1,ENST00000357242.9	.	Xq22.3	.	.	.	.	.	rs202142436	.	.	.	.	.	0.0002	0.00008077	160956	.	.	.	.	.	-0.3518	.	0.0,D	0.98,D	1.0,D	1,D	0.000011,D	3.03,M	2.1,T	15.2819	1.981	9.376	7.084854,33	4.52	0.0727243076348	VDB=0.9027;SGB=-0.690438;RPB=0.457623;MQB=0.000651436;MQSB=0.698956;BQB=0.931368;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=43;DP4=10,4,10,7;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:31:255,0,255:14,17	G	A	0	1	.	.	.	.	.	GO_REGULATION_OF_VESICLE_FUSION;GO_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_ACTIVATION_OF_GTPASE_ACTIVITY;GO_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ESTABLISHMENT_OF_LOCALIZATION_IN_CELL;GO_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT;GO_POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_PROTEIN_LOCALIZATION;GO_REGULATION_OF_TRANSPORT;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_GTPASE_ACTIVITY	.	GO_CALCIUM_ION_BINDING;GO_ENZYME_ACTIVATOR_ACTIVITY;GO_RAB_GTPASE_BINDING;GO_MOLECULAR_FUNCTION_REGULATOR;GO_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY;GO_ENZYME_REGULATOR_ACTIVITY;GO_ENZYME_BINDING;GO_GTPASE_BINDING	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS	Cytoplasmic expression in most tissues.	http://www.proteinatlas.org/ENSG00000133138-TBC1D8B/tissue	Detected in 2-31 tissues but not elevated in any tissue <Mixed>	adrenal gland: 15.6	cytoplasm	.	PM2, PP3
L	X	107328208	rs140450722	C	T	165	PASS	PSMD10	Proteasome 26S subunit, non-ATPase, 10	exonic	NM_002814	.	missense SNV	PSMD10:NM_002814:exon5:c.G677A:p.G226D	ENST00000361815.9,ENST00000340200.5,ENST00000372295.5,ENST00000372296.5,ENST00000217958.7,ENSG00000101843.18	.	Xq22.3	.	.	.	Score=0.91251;Name=chr3:186479102	.	rs140450722	.	.	0.0195652	0.0209	0.00423841	.	0.00197185	183584	0.02768743	12605	0.01612903	0.01056338	.	.	.	0.004,D	0.002,B	0.0,B	1,D	0.004499,N	0.88,L	-0.39,T	6.3028	0.178	2.329	5.375899,25.9	2.07	.	VDB=0.0400146;SGB=-0.690438;RPB=0.682161;MQB=1.24459e-05;BQB=0.436734;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=46;DP4=18,0,17,0;MinDP=5;AN=18;AC=1	GT:DP:PL:AD	0/0:11:.:.	0/0:10:.:.	0/0:30:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:5:.:.	0/0:11:.:.	0/1:35:198,0,184:18,17	C	T	0	1	Proteasome 26S subunit, non-ATPase, 10, 300880	.	.	.	21691299|9714768|20628200|22890318	GO_POSITIVE_REGULATION_OF_KINASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_ESTABLISHMENT_OF_PLANAR_POLARITY;GO_REGULATION_OF_RNA_STABILITY;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_UBIQUITINATION_INVOLVED_IN_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_CATABOLIC_PROCESS;GO_REGULATION_OF_MAPK_CASCADE;GO_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_COMMUNICATION;GO_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS;GO_NON_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_REGULATION_OF_KINASE_ACTIVITY;GO_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;GO_CELL_DEATH;GO_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CYTOKINE_MEDIATED_SIGNALING_PATHWAY;GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_REGULATION_OF_DEFENSE_RESPONSE;GO_PROTEASOME_ASSEMBLY;GO_REGULATION_OF_LIGASE_ACTIVITY;GO_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN;GO_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_CELLULAR_AMINE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MAPK_CASCADE;GO_NEGATIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_POSITIVE_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_GROWTH;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;GO_POSTTRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION;GO_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_INTRACELLULAR_SIGNAL_TRANSDUCTION;GO_INNATE_IMMUNE_RESPONSE_ACTIVATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_MITOTIC_CELL_CYCLE;GO_PROTEIN_COMPLEX_BIOGENESIS;GO_NEGATIVE_REGULATION_OF_TRANSPORT;GO_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_REGULATION_OF_TRANSCRIPTION_FACTOR_IMPORT_INTO_NUCLEUS;GO_MAINTENANCE_OF_LOCATION_IN_CELL;GO_FC_EPSILON_RECEPTOR_SIGNALING_PATHWAY;GO_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_REGULATION_OF_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY;GO_PROTEIN_POLYUBIQUITINATION;GO_REGULATION_OF_PEPTIDE_TRANSPORT;GO_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS;GO_ANTIGEN_PROCESSING_AND_PRESENTATION;GO_MAINTENANCE_OF_LOCATION;GO_POSITIVE_REGULATION_OF_CELL_GROWTH;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELL_GROWTH;GO_REGULATION_OF_CELLULAR_LOCALIZATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS;GO_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL;GO_FC_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_RESPONSE_TO_STRESS;GO_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;GO_PROTEIN_PHOSPHORYLATION;GO_POSITIVE_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;GO_NEGATIVE_REGULATION_OF_RELEASE_OF_CYTOCHROME_C_FROM_MITOCHONDRIA;GO_POSITIVE_REGULATION_OF_LIGASE_ACTIVITY;GO_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE;GO_NIK_NF_KAPPAB_SIGNALING;GO_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS;GO_CYTOPLASMIC_SEQUESTERING_OF_TRANSCRIPTION_FACTOR;GO_PROTEIN_UBIQUITINATION;GO_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY;GO_REGULATION_OF_NF_KAPPAB_IMPORT_INTO_NUCLEUS;GO_REGULATION_OF_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_DEATH;GO_T_CELL_RECEPTOR_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_EXOGENOUS_PEPTIDE_ANTIGEN_VIA_MHC_CLASS_I;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_ACTIVATION_OF_IMMUNE_RESPONSE;GO_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_POSITIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_PROTEIN_LOCALIZATION;GO_REGULATION_OF_PROTEIN_IMPORT;GO_CELLULAR_RESPONSE_TO_CYTOKINE_STIMULUS;GO_POSITIVE_REGULATION_OF_GROWTH;GO_REGULATION_OF_CYTOPLASMIC_TRANSPORT;GO_NEGATIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING;GO_CELL_CYCLE;GO_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY;GO_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS;GO_MACROMOLECULE_CATABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_PROTEIN_CATABOLIC_PROCESS;GO_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_CELL_DEATH;GO_NEGATIVE_REGULATION_OF_NF_KAPPAB_IMPORT_INTO_NUCLEUS;GO_POSITIVE_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;GO_PROTEIN_LOCALIZATION;GO_NEGATIVE_REGULATION_OF_PHOSPHORYLATION;GO_NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_CYTOPLASMIC_SEQUESTERING_OF_PROTEIN;GO_PROTEIN_COMPLEX_SUBUNIT_ORGANIZATION;GO_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS;GO_REGULATION_OF_SEQUENCE_SPECIFIC_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS;GO_ACTIVATION_OF_INNATE_IMMUNE_RESPONSE;GO_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_REGULATION_OF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;GO_REGULATION_OF_TRANSPORT;GO_REGULATION_OF_CELL_CYCLE_PROCESS;GO_IMMUNE_RESPONSE_REGULATING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY;GO_RESPONSE_TO_CYTOKINE;GO_SIGNAL_TRANSDUCTION_BY_PROTEIN_PHOSPHORYLATION;GO_CELLULAR_MACROMOLECULE_LOCALIZATION;GO_POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;GO_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_PHOSPHORYLATION;GO_REGULATION_OF_PROTEOLYSIS;GO_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_CELLULAR_PROTEIN_LOCALIZATION;GO_RESPONSE_TO_TUMOR_NECROSIS_FACTOR;GO_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION;GO_REGULATION_OF_MITOTIC_CELL_CYCLE;GO_CATABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;GO_POSITIVE_REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;GO_REGULATION_OF_ORGAN_MORPHOGENESIS;GO_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_AMINO_ACID_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_REGULATION_OF_RESPONSE_TO_DNA_DAMAGE_STIMULUS;GO_CELL_CYCLE_PROCESS;GO_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION;GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY;GO_PROTEOLYSIS;GO_REGULATION_OF_PROTEIN_TARGETING;GO_NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;GO_NEGATIVE_REGULATION_OF_MITOCHONDRION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	GO_PROTEASOME_COMPLEX;GO_PROTEASOME_REGULATORY_PARTICLE_BASE_SUBCOMPLEX;GO_CYTOSKELETON;GO_INTERMEDIATE_FILAMENT_CYTOSKELETON;GO_PROTEASOME_ACCESSORY_COMPLEX	GO_TRANSCRIPTION_FACTOR_BINDING	.	.	.	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	Ubiquitous cytoplasmic and nuclear expression, most abundant in seminiferous duct cells.	http://www.proteinatlas.org/ENSG00000101843-PSMD10/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	fallopian tube: 45.8	cytoplasm; cytoskeleton (intermediate filaments)	.	.
H	X	135430756	rs200821500	A	G	222	PASS	ADGRG4	.	exonic	NM_153834	.	missense SNV	ADGRG4:NM_153834:exon6:c.A4891G:p.T1631A	ENST00000394141.1,ENST00000370652.5,ENSG00000156920.10,ENST00000394143.5	.	Xq26.3	.	.	.	.	.	rs200821500	.	.	.	.	.	.	0.00017989	177887	0.00248814	12861	0.00077730	.	.	.	.	0.001,D	0.025,B	0.021,B	1,N	.	0.345,N	1.53,T	4.6553	0.206	0.219	0.972010,10.50	.	0.00160535357659	VDB=0.902953;SGB=-0.693146;RPB=0.864398;MQB=1.87689e-08;MQSB=0.938834;BQB=0.945987;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=81;DP4=12,12,25,17;MinDP=15;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:58:.:.	0/0:83:.:.	0/0:52:.:.	0/0:22:.:.	0/0:30:.:.	0/0:15:.:.	0/0:31:.:.	0/1:66:255,0,255:24,42	A	G	0	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PM2
H	X	138840010	.	A	G	203	PASS	ATP11C	ATPase, class VI, type 11C	exonic	NM_001010986,NM_173694	.	missense SNV	ATP11C:NM_001010986:exon23:c.T2666C:p.L889S,ATP11C:NM_173694:exon23:c.T2666C:p.L889S	ENST00000471746.1,ENST00000370557.5,ENST00000460773.5,ENSG00000101974.14,ENST00000361648.6,ENST00000327569.7	.	Xq27.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4817	.	0.019,D	0.962,D	0.997,D	0.998645,D	0.000002,D	2.525,M	-0.64,T	10.3217	0.702	8.844	6.148853,28.4	4.28	0.285610356194	VDB=0.0912385;SGB=-0.683931;RPB=0.246288;MQB=0.000339725;MQSB=0.94754;BQB=0.881515;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=41;DP4=12,5,10,3;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:30:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/0:10:.:.	0/1:30:236,0,255:17,13	A	G	0	1	ATPase, class VI, type 11C, 300516	.	.	.	24904167	GO_REGULATION_OF_CELL_ACTIVATION;GO_ION_TRANSPORT;GO_LEUKOCYTE_ACTIVATION;GO_POSITIVE_REGULATION_OF_HEMOPOIESIS;GO_IMMUNE_SYSTEM_PROCESS;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_CELL_ACTIVATION;GO_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION;GO_ORGANOPHOSPHATE_ESTER_TRANSPORT;GO_B_CELL_DIFFERENTIATION;GO_ANION_TRANSPORT;GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION;GO_REGULATION_OF_HEMOPOIESIS;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_LYMPHOCYTE_ACTIVATION;GO_B_CELL_ACTIVATION;GO_POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_B_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_ACTIVATION;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_LIPID_TRANSLOCATION;GO_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;GO_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_ORGANIC_ANION_TRANSPORT;GO_POSITIVE_REGULATION_OF_LYMPHOCYTE_DIFFERENTIATION;GO_REGULATION_OF_B_CELL_ACTIVATION;GO_PHOSPHOLIPID_TRANSPORT;GO_POSITIVE_REGULATION_OF_B_CELL_DIFFERENTIATION;GO_MEMBRANE_ORGANIZATION;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_LIPID_LOCALIZATION;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_B_CELL_ACTIVATION;GO_TRANSMEMBRANE_TRANSPORT;GO_LYMPHOCYTE_DIFFERENTIATION	GO_VACUOLE;GO_ENDOPLASMIC_RETICULUM_PART;GO_VACUOLAR_PART;GO_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK;GO_LYTIC_VACUOLE;GO_LYTIC_VACUOLE_MEMBRANE;GO_ENDOPLASMIC_RETICULUM;GO_RECYCLING_ENDOSOME;GO_ENDOSOME;GO_VACUOLAR_MEMBRANE	GO_LIPID_TRANSPORTER_ACTIVITY;GO_MAGNESIUM_ION_BINDING;GO_ATPASE_ACTIVITY_COUPLED;GO_PHOSPHOLIPID_TRANSLOCATING_ATPASE_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_RIBONUCLEOTIDE_BINDING;GO_PHOSPHOLIPID_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	Membranous and cytoplasmic expression in several tissues.	http://www.proteinatlas.org/ENSG00000101974-ATP11C/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	liver: 18.2	.	.	PM2, PP3
H-	X	150349554	.	AACCCACCACTGG	A	228	PASS	GPR50	G protein-coupled receptor 50	exonic	NM_004224	.	nonframeshift deletion	GPR50:NM_004224:exon2:c.1500_1511del:p.500_504del	ENSG00000102195.9,ENST00000218316.3	.	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01472930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	INDEL;VDB=0.000492548;SGB=-0.693147;MQSB=0.642106;MQ0F=0;MQ=48;DP=346;DP4=12,18,138,64;IDV=3;IMF=0.00867052;MinDP=100;AN=18;AC=2	GT:DP:PL:AD	0/0:211:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	1/1:232:255,2,0:30,202	AACCCACCACTGG	A	1	0	G protein-coupled receptor 50, 300207	.	.	.	9933574|16778767|8647286|15452587	GO_CELL_CELL_SIGNALING;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	External data suggests expression in pituitary gland. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000102195-GPR50/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 0.1	.	.	PM4
H-	X	150349560	rs199797606	C	T	73	PASS	GPR50	G protein-coupled receptor 50	exonic	NM_004224	.	missense SNV	GPR50:NM_004224:exon2:c.C1505T:p.T502I	ENSG00000102195.9,ENST00000218316.3	.	Xq28	.	.	.	.	.	rs199797606	.	.	.	.	.	.	.	.	.	.	0.01623816	.	.	.	.	0.001,D	0.002,B	0.005,B	1,N	0.116768,N	1.495,L	-0.64,T	2.4216	0.311	-0.092	1.903955,15.61	.	0.0262618268076	VDB=0.000411984;SGB=-0.616816;MQSB=1;MQ0F=0;MQ=50;DP=10;DP4=0,0,2,4;MinDP=100;AN=16;AC=2	GT:DP:PL:AD	0/0:113:.:.	0/0:163:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	./.:.:.:.	1/1:6:103,18,0:0,6	C	T	1	0	G protein-coupled receptor 50, 300207	.	.	.	9933574|16778767|8647286|15452587	GO_CELL_CELL_SIGNALING;GO_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	External data suggests expression in pituitary gland. RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000102195-GPR50/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	esophagus: 0.1	.	.	.
H	X	150869021	rs760486836	G	A	222	PASS	PRRG3	Proline-rich gamma-carboxyglutamic acid protein 3	exonic	NM_024082	.	missense SNV	PRRG3:NM_024082:exon4:c.G212A:p.R71Q	ENST00000370354.5,ENST00000370353.3,ENSG00000130032.15,ENST00000538575.5	.	Xq28	.	.	.	.	.	rs760486836	.	.	0.00217391	0.0013	0.000264901	.	0.00017746	174687	0.00242131	12803	0.00213841	0.00176056	.	.	Gamma-carboxyglutamic acid-rich (GLA) domain	0.361,T	0.089,B	0.913,P	1,N	0.000417,D	0.55,N	-6.69,D	15.1009	2.153	2.529	2.420975,18.96	5.19	0.420114694214	VDB=0.033234;SGB=-0.693147;RPB=0.493073;MQB=1.55302e-25;MQSB=0.889094;BQB=0.987905;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=244;DP4=75,22,76,21;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/0:105:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:52:.:.	0/1:194:255,0,255:97,97	G	A	0	1	Proline-rich gamma-carboxyglutamic acid protein 3, 300685	.	.	.	11171957	.	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000130032-PRRG3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 1.6	.	.	PM1, PM2
M	X	150869252	rs750961776	A	G	222	PASS	PRRG3	Proline-rich gamma-carboxyglutamic acid protein 3	exonic	NM_024082	.	missense SNV	PRRG3:NM_024082:exon4:c.A443G:p.H148R	ENST00000448324.1,ENST00000370353.3,ENSG00000130032.15,ENST00000538575.5	.	Xq28	.	.	.	.	.	rs750961776	.	.	0.00217391	0.0013	0.000264901	.	0.00010050	169154	0.00128041	12496	0.00058343	.	.	.	.	0.37,T	0.002,B	0.005,B	0.992589,N	0.091887,N	1.355,L	-4.79,D	5.2803	0.600	0.530	.	.	0.100749175749	VDB=0.156151;SGB=-0.693147;RPB=0.906239;MQB=4.54453e-16;MQSB=0.779665;BQB=0.523054;MQ0F=0;ICB=1;HOB=0.5;MQ=43;DP=234;DP4=39,53,36,47;MinDP=64;AN=18;AC=1	GT:DP:PL:AD	0/0:103:.:.	0/0:101:.:.	0/0:100:.:.	0/0:105:.:.	0/0:71:.:.	0/0:64:.:.	0/0:64:.:.	0/0:65:.:.	0/1:175:255,0,255:92,83	A	G	0	1	Proline-rich gamma-carboxyglutamic acid protein 3, 300685	.	.	.	11171957	.	.	GO_CALCIUM_ION_BINDING	.	.	.	.	RNA-based expert annotation gave inconclusive results.	http://www.proteinatlas.org/ENSG00000130032-PRRG3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	ovary: 1.6	.	.	PM2
L	X	152826183	rs146440948	G	A	222	PASS	ATP2B3	ATPase, Ca++ transporting, plasma membrane, 3	exonic	NM_001001344,NM_021949	.	synonymous SNV	ATP2B3:NM_001001344:exon17:c.G2889A:p.S963S,ATP2B3:NM_021949:exon17:c.G2889A:p.S963S	ENST00000263519.4,ENST00000393842.5,ENST00000359149.7,ENST00000370186.5,ENSG00000067842.17,ENST00000349466.6,ENST00000460549.1	.	Xq28	.	.	Score=831;Name=V$CHOP_01	.	.	rs146440948	.	.	0.00434783	0.0052	0.0010596	.	0.00024965	200279	0.00301919	13911	0.00058298	.	.	-0.0468	.	.	.	.	.	.	.	.	.	-2.505	-6.111	.	.	.	VDB=0.474882;SGB=-0.693147;RPB=0.363647;MQB=4.01304e-21;MQSB=0.799383;BQB=0.507815;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=159;DP4=61,8,59,6;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:30:.:.	0/0:50:.:.	0/0:31:.:.	0/0:50:.:.	0/1:134:255,0,255:69,65	G	A	0	1	?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive	.	.	.	10797423|23416519|1531651|8765088|1337931|8187550|22912398	GO_ION_TRANSPORT;GO_CHEMICAL_HOMEOSTASIS;GO_METAL_ION_TRANSPORT;GO_HOMEOSTATIC_PROCESS;GO_REGULATION_OF_HEART_CONTRACTION;GO_CATION_TRANSPORT;GO_ION_TRANSMEMBRANE_TRANSPORT;GO_CALCIUM_ION_TRANSPORT;GO_DIVALENT_INORGANIC_CATION_HOMEOSTASIS;GO_REGULATION_OF_SYSTEM_PROCESS;GO_ION_HOMEOSTASIS;GO_CELLULAR_CHEMICAL_HOMEOSTASIS;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_CARDIAC_CONDUCTION;GO_CELLULAR_HOMEOSTASIS;GO_TRANSMEMBRANE_TRANSPORT;GO_INORGANIC_ION_TRANSMEMBRANE_TRANSPORT;GO_REGULATION_OF_BLOOD_CIRCULATION;GO_DIVALENT_INORGANIC_CATION_TRANSPORT	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_GOLGI_APPARATUS	GO_ACTIVE_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_DIVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED;GO_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;GO_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;GO_CATION_TRANSPORTING_ATPASE_ACTIVITY;GO_ATPASE_COUPLED_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;GO_CALMODULIN_BINDING;GO_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;GO_RIBONUCLEOTIDE_BINDING;GO_PDZ_DOMAIN_BINDING;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING;GO_ATPASE_ACTIVITY;GO_ADENYL_NUCLEOTIDE_BINDING;GO_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_CALCIUM_HOMEOSTASIS;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT;REACTOME_HEMOSTASIS	Cytoplasmic expression in CNS, including granular layer and Purkinje cells in cerebellum.	http://www.proteinatlas.org/ENSG00000067842-ATP2B3/tissue	At least five-fold higher mRNA levels in a group of 2-7 tissues <Group enriched>	fallopian tube: 1.2	plasma membrane; golgi apparatus	.	BP7
H	X	153036865	rs200549666	C	T	222	PASS	PLXNB3	Plexin B3	splicing	NM_001163257,NM_005393	NM_001163257:exon14:c.2416+7C>T;NM_005393:exon13:c.2347+7C>T	.	.	ENST00000361971.9,ENST00000538966.5,ENSG00000198753.11	.	Xq28	.	.	.	.	.	rs200549666	.	.	0.00217391	0.0026	0.000529801	9.5e-05	0.00022098	199115	0.00259254	13886	0.00038911	.	0.0002,0	0.2938	.	.	.	.	.	.	.	.	.	-0.629	-3.094	.	.	.	VDB=0.439976;SGB=-0.693147;RPB=0.998793;MQB=8.69079e-19;MQSB=0.991372;BQB=0.82322;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=203;DP4=39,28,54,29;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:101:.:.	0/0:101:.:.	0/0:101:.:.	0/0:103:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:60:.:.	0/1:150:255,0,255:67,83	C	T	0	1	Plexin B3, 300214	.	.	.	15218527|16152637|10520995	GO_NEURON_DEVELOPMENT;GO_CELL_PART_MORPHOGENESIS;GO_CELL_CHEMOTAXIS;GO_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_LOCOMOTION;GO_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_NEURON_PROJECTION_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT;GO_REGULATION_OF_LAMELLIPODIUM_ASSEMBLY;GO_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_POSITIVE_REGULATION_OF_CELL_PROLIFERATION;GO_CELL_MOTILITY;GO_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;GO_TAXIS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_DIFFERENTIATION;GO_REGULATION_OF_MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;GO_REGULATION_OF_CELL_DIFFERENTIATION;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_NEURON_PROJECTION_MORPHOGENESIS;GO_LOCOMOTION;GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_NEUROGENESIS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MOVEMENT_OF_CELL_OR_SUBCELLULAR_COMPONENT;GO_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;GO_REGULATION_OF_LAMELLIPODIUM_ORGANIZATION;GO_CELLULAR_COMPONENT_MORPHOGENESIS;GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE;GO_REGULATION_OF_CELL_ADHESION;GO_CELL_PROJECTION_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GTPASE_ACTIVITY;GO_NEURON_DIFFERENTIATION;GO_REGULATION_OF_CELL_PROJECTION_ASSEMBLY;GO_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY;GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;GO_CELL_MORPHOGENESIS_INVOLVED_IN_NEURON_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELL_ADHESION;GO_REGULATION_OF_CELLULAR_COMPONENT_MOVEMENT;GO_NEURON_PROJECTION_GUIDANCE;GO_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_SHAPE;GO_CELL_DEVELOPMENT;GO_REGULATION_OF_CELL_DEVELOPMENT;GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION;GO_REGULATION_OF_AXONOGENESIS;GO_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION;GO_REGULATION_OF_CELL_PROLIFERATION;GO_REGULATION_OF_GTPASE_ACTIVITY;GO_POSITIVE_REGULATION_OF_AXONOGENESIS;GO_POSITIVE_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT;GO_REGULATION_OF_CELL_MORPHOGENESIS;GO_POSITIVE_REGULATION_OF_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION;GO_POSITIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION;GO_POSITIVE_CHEMOTAXIS	GO_INTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE;GO_SEMAPHORIN_RECEPTOR_COMPLEX;GO_RECEPTOR_COMPLEX	GO_SIGNAL_TRANSDUCER_ACTIVITY;GO_SIGNALING_RECEPTOR_ACTIVITY;GO_RECEPTOR_ACTIVITY;GO_PROTEIN_DOMAIN_SPECIFIC_BINDING	KEGG_AXON_GUIDANCE	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_OTHER_SEMAPHORIN_INTERACTIONS;REACTOME_SEMAPHORIN_INTERACTIONS	Cytoplasmic expression in neuronal cells and Purkinje cells.	http://www.proteinatlas.org/ENSG00000198753-PLXNB3/tissue	At least five-fold higher mRNA levels in a particular tissue as compared to average levels in all tissues <Tissue enhanced>	salivary gland: 8.7	.	.	PM2
L	X	153219977	.	G	A	222	PASS	HCFC1	Host cell factor C1 (VP16-accessory protein)	exonic	NM_005334	.	synonymous SNV	HCFC1:NM_005334:exon17:c.C3873T:p.N1291N	ENST00000369984.4,ENSG00000172534.13,ENST00000310441.11	CpG: 67	Xq28	.	.	Score=825;Name=V$CEBP_C	.	.	.	.	.	.	.	.	.	0.00000501	199443	.	.	.	.	.	0.0049	.	.	.	.	.	.	.	.	.	0.371	2.721	.	3.46	.	VDB=0.57555;SGB=-0.693147;RPB=0.988955;MQB=8.4489e-25;MQSB=0.699197;BQB=0.976695;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=232;DP4=54,49,49,30;MinDP=50;AN=18;AC=1	GT:DP:PL:AD	0/0:100:.:.	0/0:100:.:.	0/0:101:.:.	0/0:101:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/0:50:.:.	0/1:182:255,0,255:103,79	G	A	0	1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive	.	.	.	7721097|8833156|7829097|1870093|23000143|24311690|19855399|8392914|7789979|24011988|8661027	GO_CHROMOSOME_ORGANIZATION;GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION;GO_CELLULAR_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS;GO_POSITIVE_REGULATION_OF_GENE_EXPRESSION;GO_PEPTIDYL_AMINO_ACID_MODIFICATION;GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_PEPTIDYL_LYSINE_MODIFICATION;GO_PROTEIN_ACETYLATION;GO_CHROMATIN_MODIFICATION;GO_CELLULAR_RESPONSE_TO_ORGANIC_SUBSTANCE;GO_PROTEIN_STABILIZATION;GO_COVALENT_CHROMATIN_MODIFICATION;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_CHROMATIN_ORGANIZATION;GO_REGULATION_OF_CELL_CYCLE;GO_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY;GO_REGULATION_OF_PROTEIN_STABILITY;GO_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS;GO_CELL_CYCLE;GO_MITOCHONDRION_ORGANIZATION;GO_HISTONE_H4_K16_ACETYLATION;GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_VIRAL_LATENCY;GO_PROTEIN_ACYLATION;GO_HISTONE_H4_ACETYLATION;GO_POSITIVE_REGULATION_OF_CELL_CYCLE;GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	GO_ADA2_GCN5_ADA3_TRANSCRIPTION_ACTIVATOR_COMPLEX;GO_NEURON_PART;GO_TRANSFERASE_COMPLEX;GO_AXON;GO_SET1C_COMPASS_COMPLEX;GO_HISTONE_METHYLTRANSFERASE_COMPLEX;GO_SAGA_TYPE_COMPLEX;GO_MLL1_2_COMPLEX;GO_METHYLTRANSFERASE_COMPLEX;GO_NUCLEOPLASM_PART;GO_NEURON_PROJECTION;GO_CATALYTIC_COMPLEX;GO_MITOCHONDRION;GO_CELL_BODY;GO_CELL_PROJECTION;GO_SOMATODENDRITIC_COMPARTMENT;GO_ACETYLTRANSFERASE_COMPLEX;GO_DENDRITE	GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING;GO_ACETYLTRANSFERASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING;GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING;GO_H4_HISTONE_ACETYLTRANSFERASE_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY;GO_TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;GO_PEPTIDE_N_ACETYLTRANSFERASE_ACTIVITY;GO_IDENTICAL_PROTEIN_BINDING;GO_N_ACYLTRANSFERASE_ACTIVITY;GO_TRANSCRIPTION_FACTOR_ACTIVITY_PROTEIN_BINDING;GO_CHROMATIN_BINDING;GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY;GO_N_ACETYLTRANSFERASE_ACTIVITY;GO_MACROMOLECULAR_COMPLEX_BINDING	.	.	.	.	.	http://www.proteinatlas.org/ENSG00000172534-HCFC1/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	bone marrow: 20.0	mitochondria; nucleus but not nucleoli	.	PM2
H	X	153735240	rs377295932	G	A	222	PASS	FAM3A	Family with sequence similarity 3, member A	splicing	NM_001171132,NM_001171133,NM_001171134,NM_001282311,NM_001282312,NM_021806	NM_001171132:exon10:c.598-3C>T;NM_001171133:exon9:c.484-3C>T;NM_001171134:exon8:c.547-3C>T;NM_001282311:exon10:c.640-3C>T;NM_001282312:exon10:c.598-3C>T;NM_021806:exon9:c.598-3C>T	.	.	ENST00000393572.5,ENST00000621967.4,ENST00000447601.6,ENST00000419205.5,ENST00000434658.6,ENST00000475657.1,ENST00000369641.7,ENST00000612856.4,ENST00000359889.9,ENST00000322269.10,ENSG00000071889.16,ENST00000369643.5	.	Xq28	.	.	.	.	.	rs377295932	.	.	0	0.0026	0.000529801	9.5e-05	0.00022723	193635	0.00302004	13576	0.00077730	0.00352734	0.0066,0.158	-0.9180	.	.	.	.	.	.	.	.	.	1.035	3.111	0.936490,10.29	4.51	.	VDB=0.0865876;SGB=-0.693147;RPB=0.880557;MQB=1.9449e-12;MQSB=0.473274;BQB=0.455414;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=136;DP4=33,23,26,20;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:100:.:.	0/0:100:.:.	0/0:102:.:.	0/0:51:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/1:102:255,0,255:56,46	G	A	0	1	Family with sequence similarity 3, member A, 300492	.	.	.	12160727	.	.	.	.	.	.	.	Normal cells displayed weak to moderate cytoplasmic staining which in some tissues was combined with nuclear positivity. Strong staining was observed in renal tubuli. The spleen was negative.	http://www.proteinatlas.org/ENSG00000071889-FAM3A/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	small intestine: 21.6	nucleoli; nucleus	.	PM2
L	X	153763508	.	G	A	222	PASS	G6PD	Glucose-6-phosphate dehydrogenase	exonic	NM_000402,NM_001042351	.	synonymous SNV	G6PD:NM_000402:exon5:c.C450T:p.R150R,G6PD:NM_001042351:exon5:c.C360T:p.R120R	ENST00000439227.5,ENST00000621232.4,ENSG00000160211.15,ENST00000393564.6,ENST00000497281.5,ENST00000393562.6,ENST00000369620.6,ENST00000440967.5,ENST00000433845.1	.	Xq28	.	.	Score=708;Name=V$HOX13_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1715	.	.	.	.	.	.	.	.	.	-0.060	-0.419	.	.	.	VDB=0.26517;SGB=-0.693145;RPB=0.901387;MQB=3.49702e-12;MQSB=0.990367;BQB=0.943273;MQ0F=0;ICB=1;HOB=0.5;MQ=48;DP=118;DP4=38,5,36,4;MinDP=30;AN=18;AC=1	GT:DP:PL:AD	0/0:50:.:.	0/0:51:.:.	0/0:50:.:.	0/0:50:.:.	0/0:30:.:.	0/0:31:.:.	0/0:30:.:.	0/0:30:.:.	0/1:83:255,0,255:43,40	G	A	0	1	Favism, 134700 (3), Autosomal dominant; Hemolytic anemia due to G6PD deficiency, 300908 (3), X-linked recessive; {Resistance to malaria due to G6PD deficiency}, 611162 (3)	.	.	.	6032005|1303182|3610149|9233561|5673160|5782116|5448|4147554|4153368|16143877|3653894|624546|5580403|5115324|4398790|4402065|3740052|1999409|1999339|1879833|2572288|1972698|1978554|5643703|5413384|1611091|4768554|6344088|1984194|5653554|5365756|17948498|14014720|4398791|2253938|8447319|9746794|18177777|7947250|823756|4151903|1201217|921743|9634367|18043863|17233850|4666752|5031985|1323345|1889820|8807322|13500095|8471773|7076249|7076260|7450778|542803|3980015|7393270|1551674|10666231|4701992|2919631|3369438|2895981|14067093|7259990|2912069|4974311|3198117|3849316|7160841|5421739|5764873|7123903|7353072|1354645|830903|5710590|1536798|8808605|2596828|6832252|4842775|6163210|3114091|6714986|7327562|22121116|2307454|1276080|859288|955939|4838696|4753845|10734064|7450750|588239|561093|4628608|4125296|5930024|3606560|3366466|4154719|23402|4380311|2836867|2910917|8241497|11852882|2602358|7327555|532804|5674071|5046624|598829|11112389|6714978|11499668|14757696|16607506|12846|1147889|8533762|4007855|241700|4261190|4719636|4141762|598844|235389|27443|1150245|2758468|5105366|11445808|9342374|3706292|1734718|5765510|14278484|5364922|13756265|14158057|5844610|6812368|4673853|2591977|3591235|1978555|4256637|11857737|5305539|17273168|669721|903703|3967887|7291768|9109443|14260699|12169625|16155737|20007901|5666113|472761|4889647|4154774|2005960|1353664|3681551|4085453|14470|85108|2428611|7607684|8826878|12768444|16136268|15349799|7401130|5439677|4283789|4379606|5485383|4728291|5087725|2248331|7353069|12028056|1007|4149233|730178|736032|8579052|15940|1008056|284409|6946512|6698555|6654337|8490627|2255919|4828221|835572|511159|14207553|4398877|8825599|16528451|10698963|4408431|3360447|5047808|6930669|7216225|7441068|4650733|5081671|4721339|4837298|4435794|7358391|1150271|5493238|2917200|6895658|3515319|7450748|5913292|3338798|14124079|13985567|7407414|3348252|5359663|14228003|4397482|5770172|3565372|5435642|1054832|6337374|6433630|7228057|7316485|16832|1201235|133080|7390473|1056018|14172618|7364565|5568155|939229|5311120|5516240|5496124|4397065|17842795|2263506|12673656|4252680|7166314|6500558|3012556|3446582|5779160|4388268|1562739|7203486|4209318|11423617|752149|6540752|3793116|2835227|2157298|1303173|848857|4029955|7129446|12130518|6426235|1150303|1002152|7250973|4152602|2321910|7055648|7221827|7106752|2912886|2393028|8364584|3393536|9674740|1924316|2503817|1631957|8956035|1188317|4749241|4246285|6693129|5667020|631849|5925237|5299754|5011553|5870191|7315103|4392654|5316621|626479|6015571|2897162|2840819|16591538|4388132|5492291	GO_GLYCERALDEHYDE_3_PHOSPHATE_METABOLIC_PROCESS;GO_STEROID_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_ETHANOL;GO_SULFUR_COMPOUND_METABOLIC_PROCESS;GO_MYELOID_CELL_HOMEOSTASIS;GO_IMMUNE_SYSTEM_PROCESS;GO_MYELOID_CELL_DEVELOPMENT;GO_NADP_METABOLIC_PROCESS;GO_ERYTHROCYTE_HOMEOSTASIS;GO_COFACTOR_METABOLIC_PROCESS;GO_PENTOSE_PHOSPHATE_SHUNT;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_HOMEOSTATIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_RESPONSE_TO_FOOD;GO_IMMUNE_SYSTEM_DEVELOPMENT;GO_ORGANOPHOSPHATE_METABOLIC_PROCESS;GO_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS;GO_GLUCOSE_6_PHOSPHATE_METABOLIC_PROCESS;GO_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS;GO_PEPTIDE_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_RESPONSE_TO_EXTERNAL_STIMULUS;GO_CELL_MATURATION;GO_NEURAL_NUCLEUS_DEVELOPMENT;GO_CELLULAR_AMIDE_METABOLIC_PROCESS;GO_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS;GO_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS;GO_SUBSTANTIA_NIGRA_DEVELOPMENT;GO_MIDBRAIN_DEVELOPMENT;GO_REGULATION_OF_NEURON_APOPTOTIC_PROCESS;GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND;GO_PHOSPHATE_CONTAINING_COMPOUND_METABOLIC_PROCESS;GO_CARBOHYDRATE_BIOSYNTHETIC_PROCESS;GO_ERYTHROCYTE_MATURATION;GO_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND;GO_HOMEOSTASIS_OF_NUMBER_OF_CELLS;GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS;GO_OXIDATION_REDUCTION_PROCESS;GO_LIPID_METABOLIC_PROCESS;GO_STEROID_METABOLIC_PROCESS;GO_ALCOHOL_METABOLIC_PROCESS;GO_CELLULAR_MODIFIED_AMINO_ACID_METABOLIC_PROCESS;GO_HEAD_DEVELOPMENT;GO_CELLULAR_ALDEHYDE_METABOLIC_PROCESS;GO_CARBOHYDRATE_METABOLIC_PROCESS;GO_OXIDOREDUCTION_COENZYME_METABOLIC_PROCESS;GO_COENZYME_METABOLIC_PROCESS;GO_GLUCOSE_METABOLIC_PROCESS;GO_LIPID_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_GLUTATHIONE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_REGULATION_OF_NEURON_DEATH;GO_REGULATION_OF_CELL_DEATH;GO_STEROL_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GO_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_MONOSACCHARIDE_METABOLIC_PROCESS;GO_MYELOID_CELL_DIFFERENTIATION;GO_HEXOSE_METABOLIC_PROCESS;GO_STEROL_METABOLIC_PROCESS;GO_CELLULAR_RESPONSE_TO_STRESS;GO_CELL_DEVELOPMENT;GO_RESPONSE_TO_ALCOHOL;GO_PENTOSE_METABOLIC_PROCESS;GO_CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;GO_RESPONSE_TO_OXIDATIVE_STRESS;GO_DEVELOPMENTAL_MATURATION;GO_ALCOHOL_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;GO_ERYTHROCYTE_DEVELOPMENT;GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS	GO_MICROTUBULE_CYTOSKELETON;GO_CYTOPLASMIC_SIDE_OF_MEMBRANE;GO_CENTROSOME;GO_CYTOSKELETAL_PART;GO_CYTOSKELETON;GO_SIDE_OF_MEMBRANE;GO_MICROTUBULE_ORGANIZING_CENTER	GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR;GO_CARBOHYDRATE_BINDING;GO_PROTEIN_DIMERIZATION_ACTIVITY;GO_PROTEIN_HOMODIMERIZATION_ACTIVITY;GO_GLUCOSE_BINDING;GO_IDENTICAL_PROTEIN_BINDING;GO_NADP_BINDING;GO_COFACTOR_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;GO_OXIDOREDUCTASE_ACTIVITY;GO_MONOSACCHARIDE_BINDING;GO_COENZYME_BINDING	KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_GLUTATHIONE_METABOLISM	.	.	REACTOME_METABOLISM_OF_CARBOHYDRATES	General cytoplasmic expression most abundant in seminiferus duct cells, spleen and bone marrow.	http://www.proteinatlas.org/ENSG00000160211-G6PD/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	testis: 71.9	cytoplasm; vesicles; microtubule organizing center; centrosome	.	BP7, PM2
L	X	154754142	rs782437899	C	T	222	PASS	TMLHE	Epsilon-trimethyllysine hydroxylase	exonic	NM_001184797,NM_018196	.	synonymous SNV	TMLHE:NM_001184797:exon3:c.G333A:p.L111L,TMLHE:NM_018196:exon3:c.G333A:p.L111L	ENSG00000224533.4,ENST00000334398.7,ENSG00000185973.10,ENST00000487422.1,ENST00000369439.4,ENST00000452506.1	.	Xq28	.	.	.	.	.	rs782437899	.	.	0.00217391	0.0039	0.000794702	.	0.00013746	189143	0.00194160	12876	0.00097163	0.00176056	.	-0.2286	.	.	.	.	.	.	.	.	.	0.206	0.416	.	.	.	VDB=0.691525;SGB=-0.693021;RPB=0.7439;MQB=9.08979e-07;MQSB=0.990977;BQB=0.640938;MQ0F=0;ICB=1;HOB=0.5;MQ=47;DP=66;DP4=17,8,17,10;MinDP=10;AN=18;AC=1	GT:DP:PL:AD	0/0:30:.:.	0/0:30:.:.	0/0:30:.:.	0/0:50:.:.	0/0:10:.:.	0/0:30:.:.	0/0:11:.:.	0/0:10:.:.	0/1:52:255,0,255:25,27	C	T	0	1	{Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive	.	.	.	21865298|22566635|17408883|23092983|11431483|25943046	GO_AMMONIUM_ION_METABOLIC_PROCESS;GO_SINGLE_ORGANISM_BIOSYNTHETIC_PROCESS;GO_SMALL_MOLECULE_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_METABOLIC_PROCESS;GO_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_ORGANIC_ACID_BIOSYNTHETIC_PROCESS;GO_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;GO_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS;GO_NEGATIVE_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY;GO_ORGANIC_ACID_METABOLIC_PROCESS;GO_CARNITINE_METABOLIC_PROCESS;GO_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION;GO_OXIDATION_REDUCTION_PROCESS;GO_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;GO_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS;GO_AMINO_ACID_BETAINE_METABOLIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_METABOLIC_PROCESS;GO_ORGANIC_HYDROXY_COMPOUND_BIOSYNTHETIC_PROCESS;GO_ORGANONITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	GO_MITOCHONDRIAL_MATRIX;GO_MITOCHONDRIAL_PART;GO_MITOCHONDRION	GO_CARBOHYDRATE_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN_2_OXOGLUTARATE_AS_ONE_DONOR_AND_INCORPORATION_OF_ONE_ATOM_EACH_OF_OXYGEN_INTO_BOTH_DONORS;GO_L_ASCORBIC_ACID_BINDING;GO_DIOXYGENASE_ACTIVITY;GO_TRANSITION_METAL_ION_BINDING;GO_ORGANIC_ACID_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_SINGLE_DONORS_WITH_INCORPORATION_OF_MOLECULAR_OXYGEN;GO_VITAMIN_BINDING;GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN;GO_IRON_ION_BINDING;GO_OXIDOREDUCTASE_ACTIVITY;GO_MONOSACCHARIDE_BINDING	KEGG_LYSINE_DEGRADATION	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	General cytoplasmic expression.	http://www.proteinatlas.org/ENSG00000185973-TMLHE/tissue	Detected in all tissues (FPKM>=0.5) <Expressed in all>	heart muscle: 14.1	mitochondria	.	BP7, PM2