diff --git "a/data/variant_inventory/Copy of annotated_variants_of_interest.csv" "b/data/variant_inventory/Copy of annotated_variants_of_interest.csv"
new file mode 100755--- /dev/null
+++ "b/data/variant_inventory/Copy of annotated_variants_of_interest.csv"
@@ -0,0 +1,487 @@
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+chr1:g.152220451C>G,17.123388,1,True,CA1102246,http://bit.ly/2VLnQBz,T,0,2,393,S,AGC,3.0,0.0007784120394395433,G,"['C', 'C']",principal1,T,0.00073,-0.649185,T,0.05381,-0.708336,0.70478,570.0,2.134,0.05054,0.104738,1,T,0.02544,0.0334461956159172,0.05103,0.5426610856272294,"['C', 'C']",T,0.11662,0.013499,0.4307017,-0.975576326783466,0.09127,0.4257046,-1.05330504128765,0.08638,ENSG00000197915,ENSP00000357791,ENST00000368801,0.05918,T,3.36,AEFBI,N,0.15483,0.09813,N,0.04675,0.035828,Y,HRNR,0.02871,1.21310888329494e-05,3.8,0.344,0.15244,0.0,0.14657,0.547309,0.0,0.23631,0.573888,150459551.0,150459551.0,152192927.0,152192927.0,152220451.0,152220451.0,c.1178G>C,"['p.Ser393Thr', 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0.234]",T,0.33919,0.464445948601,0.50502,"['N', 'N', 'N', 'N']","[-2.13, -2.13, -2.26, -2.26]",T,10.0,0.88069,0.673,rs76763715,0.539,"['D', 'D', 'D', 'D']","[0.013, 0.013, 0.015, 0.027]",0.54934,"['D', 'D', 'D', 'D']","[0.033, 0.033, 0.04, 0.028]",0.42987,10.3278,0.0,0.0,0.0,1.0,"[1, 1, 2, 2]",9.0,0.0024271844660194173,16.0,0.0021158423697434543,"[{'acc': 'P04062', 'entry': 'GLCM_HUMAN'}, {'acc': 'P04062', 'entry': 'GLCM_HUMAN'}, {'acc': 'P04062-5', 'entry': 'GLCM_HUMAN'}, {'acc': 'P04062-4', 'entry': 'GLCM_HUMAN'}]",YES,0.65844,"[0.642, 0.642, 0.624, 0.647]",,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.999, 'alspac': 0.998, 'dbgap_popfreq': 0.997, 'exac': 0.998, 'gnomad': 0.998, 'gnomad_exomes': 0.998, 'northernsweden': 0.998, 'page_study': 0.999, 'topmed': 0.998, 'twinsuk': 0.998}}, {'allele': 'C', 'freq': {'1000g': 0.001, 'alspac': 0.002, 'dbgap_popfreq': 0.003, 'exac': 0.002, 'gnomad': 0.002, 'gnomad_exomes': 0.002, 'northernsweden': 0.002, 'page_study': 0.001, 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'NG_042867.1:g.2305T>C']","['NP_000148.2:p.Asn409Ser', 'NP_001005741.1:p.Asn409Ser', 'NP_001005741.1:p.Asn409Ser', 'NP_001005742.1:p.Asn409Ser', 'NP_001165282.1:p.Asn322Ser', 'NP_001165283.1:p.Asn360Ser', 'P04062:p.Asn409Ser']",,,,,,,,,,,,T,rs76763715,single nucleotide variant,4290.0,t,"Pathogenic/Likely_pathogenic,_risk_factor",4290,NC_000001.11:g.155235843T>C,"['C0040034', 'C1458140', 'C0026837', 'C0085623', 'C0030567', 'C0752347', 'C3160718', 'C1961835', 'C0268250', 'C0268251', 'C1856476', 'C1842704', 'C0017205', 'C2676021', 'CN235283', 'CN239381', 'CN517202']","['ORPHA319705', 'ORPHA77259', 'ORPHA77260', 'ORPHA77261', 'ORPHA2072', 'ORPHA85212', 'ORPHA355']","criteria_provided,_multiple_submitters,_no_conflicts","['Thrombocytopenia', 'Abnormal_bleeding', 'Rigidity', 'Akinesia', 'Parkinson_disease', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', ""Gaucher's_disease,_type_1"", ""Acute_neuronopathic_Gaucher's_disease"", ""Subacute_neuronopathic_Gaucher's_disease"", 'Gaucher_disease_type_3C', 'Gaucher_disease,_perinatal_lethal', 'Gaucher_disease', 'Dementia,_Lewy_body,_susceptibility_to', 'none_provided', ""Susceptibility_to_Parkinson's_Disease"", 'not_provided']","['Glycosyl hydrolase family 30, TIM-barrel domain', 'Glycosyl hydrolase family 30, TIM-barrel domain']",0.51296,0.079051,D,0.0001,0.74992,1.0173728136,2010-10-26T08:39Z,rs80356766,133.0,,,,,,,,,606463.0003,"[{'accession': 'RCV000004515', 'clinical_significance': 'Pathogenic/Likely pathogenic', 'conditions': {'identifiers': {'medgen': 'C1961835', 'mondo': 'MONDO:0009265', 'omim': '230800', 'orphanet': '77259'}, 'name': 'Gaucher disease type I (GD1)', 'synonyms': ['GBA DEFICIENCY', 'GD I', ""Gaucher's disease, type 1"", 'Gaucher disease type 1', 'Gaucher disease, noncerebral juvenile', 'GD 1', 'Glucocerebrosidase deficiency', 'Acid beta-glucosidase deficiency']}, 'last_evaluated': '2022-03-25', 'number_submitters': 13, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000004516', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C3160718', 'mondo': 'MONDO:0008199', 'omim': '168600'}, 'name': 'Parkinson disease, late-onset (PD)', 'synonyms': [""Parkinson's disease"", 'PARKINSON DISEASE, AGE OF ONSET, MODIFIER', 'PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO', ""Susceptibility to Parkinson's Disease"", 'Hereditary late onset Parkinson disease']}, 'last_evaluated': '2021-05-03', 'number_submitters': 3, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000004517', 'clinical_significance': 'risk factor', 'conditions': {'identifiers': {'medgen': 'C2676021'}, 'name': 'Dementia, Lewy body, susceptibility to'}, 'last_evaluated': '2010-08-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000079336', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'CN517202'}, 'name': 'not provided', 'synonyms': ['none provided']}, 'last_evaluated': '2022-03-23', 'number_submitters': 12, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000396221', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0017205', 'mondo': 'MONDO:0018150'}, 'name': 'Gaucher disease', 'synonyms': ['Acute cerebral Gaucher disease', 'Cerebroside lipidosis syndrome', 'Gaucher splenomegaly', 'Sphingolipidosis 1', 'Glucocerebrosidosis', 'Glucosylceramidase deficiency', 'Glucosyl cerebroside lipidosis', 'Kerasin lipoidosis', 'Kerasin thesaurismosis']}, 'last_evaluated': '2020-01-22', 'number_submitters': 4, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000414782', 'clinical_significance': 'Likely pathogenic', 'conditions': [{'identifiers': {'human_phenotype_ontology': 'HP:0002063', 'medgen': 'C0026837'}, 'name': 'Rigidity'}, {'identifiers': {'human_phenotype_ontology': 'HP:0002304', 'medgen': 'C0085623'}, 'name': 'Akinesia'}], 'last_evaluated': '2014-02-19', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV000515439', 'clinical_significance': 'Pathogenic', 'conditions': [{'identifiers': {'medgen': 'C0752347', 'mondo': 'MONDO:0007488', 'omim': '127750'}, 'name': 'Lewy body dementia (DLB)', 'synonyms': ['Diffuse Lewy body disease', 'Autosomal dominant diffuse Lewy body disease', 'Lewy Body Disease']}, {'identifiers': {'medgen': 'C1961835', 'mondo': 'MONDO:0009265', 'omim': '230800', 'orphanet': '77259'}, 'name': 'Gaucher disease type I (GD1)', 'synonyms': ['GBA DEFICIENCY', 'GD I', ""Gaucher's disease, type 1"", 'Gaucher disease type 1', 'Gaucher disease, noncerebral juvenile', 'GD 1', 'Glucocerebrosidase deficiency', 'Acid beta-glucosidase deficiency']}, {'identifiers': {'medgen': 'C0268250', 'mondo': 'MONDO:0009266', 'omim': '230900'}, 'name': 'Gaucher disease type II (GD2)', 'synonyms': ['GD II', 'Gaucher disease type 2', 'GD 2', 'Gaucher disease, infantile cerebral', 'Gaucher disease, acute neuronopathic type', ""Acute neuronopathic Gaucher's disease""]}, {'identifiers': {'medgen': 'C0268251', 'mondo': 'MONDO:0009267', 'omim': '231000', 'orphanet': '77261'}, 'name': 'Gaucher disease type III (GD3)', 'synonyms': ['GD III', 'GD 3', 'Gaucher disease, juvenile and adult, cerebral', 'Gaucher disease, chronic neuronopathic type', 'Gaucher disease, subacute neuronopathic type', 'Gaucher Disease, Type 3', ""Subacute neuronopathic Gaucher's disease""]}, {'identifiers': {'medgen': 'C1842704', 'mondo': 'MONDO:0011945', 'omim': '608013'}, 'name': 'Gaucher disease perinatal lethal', 'synonyms': ['Gaucher disease collodion type', 'Gaucher disease, perinatal-lethal form']}, {'identifiers': {'medgen': 'C1856476', 'mondo': 'MONDO:0009268', 'omim': '231005'}, 'name': 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome', 'synonyms': ['GAUCHER DISEASE, TYPE IIIC', 'Gaucher disease type 3C']}, {'identifiers': {'medgen': 'C3160718', 'mondo': 'MONDO:0008199', 'omim': '168600'}, 'name': 'Parkinson disease, late-onset (PD)', 'synonyms': [""Parkinson's disease"", 'PARKINSON DISEASE, AGE OF ONSET, MODIFIER', 'PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO', ""Susceptibility to Parkinson's Disease"", 'Hereditary late onset Parkinson disease']}], 'last_evaluated': '2017-05-18', 'number_submitters': 2, 'origin': 'unknown', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001004117', 'clinical_significance': 'Pathogenic', 'conditions': [{'identifiers': {'medgen': 'C1961835', 'mondo': 'MONDO:0009265', 'omim': '230800', 'orphanet': '77259'}, 'name': 'Gaucher disease type I (GD1)', 'synonyms': ['GBA DEFICIENCY', 'GD I', ""Gaucher's disease, type 1"", 'Gaucher disease type 1', 'Gaucher disease, noncerebral juvenile', 'GD 1', 'Glucocerebrosidase deficiency', 'Acid beta-glucosidase deficiency']}, {'identifiers': {'medgen': 'C0268250', 'mondo': 'MONDO:0009266', 'omim': '230900'}, 'name': 'Gaucher disease type II (GD2)', 'synonyms': ['GD II', 'Gaucher disease type 2', 'GD 2', 'Gaucher disease, infantile cerebral', 'Gaucher disease, acute neuronopathic type', ""Acute neuronopathic Gaucher's disease""]}, {'identifiers': {'medgen': 'C0268251', 'mondo': 'MONDO:0009267', 'omim': '231000', 'orphanet': '77261'}, 'name': 'Gaucher disease type III (GD3)', 'synonyms': ['GD III', 'GD 3', 'Gaucher disease, juvenile and adult, cerebral', 'Gaucher disease, chronic neuronopathic type', 'Gaucher disease, subacute neuronopathic type', 'Gaucher Disease, Type 3', ""Subacute neuronopathic Gaucher's disease""]}, {'identifiers': {'medgen': 'C1856476', 'mondo': 'MONDO:0009268', 'omim': '231005'}, 'name': 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome', 'synonyms': ['GAUCHER DISEASE, TYPE IIIC', 'Gaucher disease type 3C']}], 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001195689', 'clinical_significance': 'risk factor', 'conditions': {'identifiers': {'medgen': 'C0030567', 'mesh': 'D010300', 'mondo': 'MONDO:0005180', 'omim': 'PS168600'}, 'name': 'Parkinson disease (PD)'}, 'last_evaluated': '2020-04-14', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001197918', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C1842704', 'mondo': 'MONDO:0011945', 'omim': '608013'}, 'name': 'Gaucher disease perinatal lethal', 'synonyms': ['Gaucher disease collodion type', 'Gaucher disease, perinatal-lethal form']}, 'last_evaluated': '2019-03-04', 'number_submitters': 2, 'origin': 'unknown', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV001270528', 'clinical_significance': 'Uncertain significance', 'conditions': [{'identifiers': {'human_phenotype_ontology': 'HP:0008183', 'medgen': 'C1458140'}, 'name': 'Abnormal bleeding'}, {'identifiers': {'human_phenotype_ontology': 'HP:0008302', 'medgen': 'C0040034', 'mesh': 'D013921', 'mondo': 'MONDO:0002049'}, 'name': 'Thrombocytopenia'}], 'last_evaluated': '2020-05-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV002247244', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0752347', 'mondo': 'MONDO:0007488', 'omim': '127750'}, 'name': 'Lewy body dementia (DLB)', 'synonyms': ['Diffuse Lewy body disease', 'Autosomal dominant diffuse Lewy body disease', 'Lewy Body Disease']}, 'last_evaluated': '2022-05-04', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)', 'review_status': 'criteria provided, single submitter'}]","['PS168600', '127750', '168600', '230800', '230900', '231000', '231005', '608013']","['ARUP_Laboratories,_Molecular_Genetics_and_Genomics,ARUP_Laboratories:1141007', 'Broad_Institute_Rare_Disease_Group,Broad_Institute:70ea0f99-df79-45a1-b766-b23ceb052e02', 'HGMD:CM880036', 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'c.-581C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '197', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_139346.2', 'feature_type': 'transcript', 'gene_id': 'BIN1', 'genename': 'BIN1', 'hgvs_c': 'c.-581C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '197', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_139347.2', 'feature_type': 'transcript', 'gene_id': 'BIN1', 'genename': 'BIN1', 'hgvs_c': 'c.-581C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '197', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_139348.2', 'feature_type': 'transcript', 'gene_id': 'BIN1', 'genename': 'BIN1', 'hgvs_c': 'c.-581C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '197', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_139349.2', 'feature_type': 'transcript', 'gene_id': 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'NC_000002.11:g.127865100G>A', 'NC_000002.12:g.127107524G>A', 'NG_012042.1:g.4765C>T']",,RCV000826797,Benign,CN517202,,not provided,['none provided'],2018-06-19,1.0,germline,NC_000002.12:g.127107524G>A,"criteria provided, single submitter",G,rs13032148,single nucleotide variant,668022.0,,,,,,,,,,,,,,,,2008-05-23T10:11Z,rs56726734,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'geneid': 274, 'is_pseudo': False, 'name': 'bridging integrator 1', 'rnas': [{'protein_product': {'refseq': 'NP_001307561.1'}, 'refseq': 'NM_001320632.2', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_001307562.1'}, 'refseq': 'NM_001320633.2', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_001307563.1'}, 'refseq': 'NM_001320634.1'}, {'protein_product': {'refseq': 'NP_001307569.1'}, 'refseq': 'NM_001320640.2', 'so': [{'accession': 'SO:0001986', 'name': 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'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_647597.1'}, 'refseq': 'NM_139347.3', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_647598.1'}, 'refseq': 'NM_139348.3', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_647599.1'}, 'refseq': 'NM_139349.3', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_647600.1'}, 'refseq': 'NM_139350.3', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_647601.1'}, 'refseq': 'NM_139351.3', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}], 'so': [{'accession': 'SO:0001636', 'name': '2KB_upstream_variant'}], 'strand': '-', 'symbol': 'BIN1'}, {'geneid': 105373605, 'is_pseudo': False, 'name': 'uncharacterized LOC105373605', 'rnas': [{'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'codon_aligned_transcript_change': {'deleted_sequence': 'G', 'inserted_sequence': 'G', 'position': 130, 'seq_id': 'XR_923311.3'}, 'hgvs': 'XR_923311.3:n.131=', 'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001619', 'name': 'non_coding_transcript_variant'}]}], 'strand': '+', 'symbol': 'LOC105373605'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127115992G>T,17.123554,2,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.784, 'alspac': 0.811, 'dbgap_popfreq': 0.841, 'estonian': 0.794, 'genome_dk': 0.775, 'gnomad': 0.78, 'gonl': 0.778, 'korea1k': 0.813, 'korean': 0.801, 'northernsweden': 0.813, 'qatari': 0.713, 'sgdp_prj': 0.439, 'siberian': 0.5, 'tommo': 0.838, 'topmed': 0.781, 'twinsuk': 0.786, 'vietnamese': 0.939}}, {'allele': 'A', 'freq': {'1000g': 0.216, 'alspac': 0.189, 'dbgap_popfreq': 0.159, 'estonian': 0.206, 'genome_dk': 0.225, 'gnomad': 0.22, 'gonl': 0.222, 'korea1k': 0.187, 'korean': 0.199, 'northernsweden': 0.187, 'qatari': 0.287, 'sgdp_prj': 0.561, 'siberian': 0.5, 'tommo': 0.162, 'topmed': 0.219, 'twinsuk': 0.214, 'vietnamese': 0.061}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",T,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'codon_aligned_transcript_change': {'deleted_sequence': 'G', 'inserted_sequence': 'G', 'position': 240, 'seq_id': 'XR_923310.2'}, 'hgvs': 'XR_923310.2:n.241=', 'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001619', 'name': 'non_coding_transcript_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127115992.0,127115992.0,G,rs7594230,snv,127115992.0,127115992.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127115992G>T,,,,MODIFIER,,,,T,127115992,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2014-08-21T16:14Z,rs386424156,142.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127115992G>A,17.123442,2,True,CA11161157,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.784, 'alspac': 0.811, 'dbgap_popfreq': 0.841, 'estonian': 0.794, 'genome_dk': 0.775, 'gnomad': 0.78, 'gonl': 0.778, 'korea1k': 0.813, 'korean': 0.801, 'northernsweden': 0.813, 'qatari': 0.713, 'sgdp_prj': 0.439, 'siberian': 0.5, 'tommo': 0.838, 'topmed': 0.781, 'twinsuk': 0.786, 'vietnamese': 0.939}}, {'allele': 'A', 'freq': {'1000g': 0.216, 'alspac': 0.189, 'dbgap_popfreq': 0.159, 'estonian': 0.206, 'genome_dk': 0.225, 'gnomad': 0.22, 'gonl': 0.222, 'korea1k': 0.187, 'korean': 0.199, 'northernsweden': 0.187, 'qatari': 0.287, 'sgdp_prj': 0.561, 'siberian': 0.5, 'tommo': 0.162, 'topmed': 0.219, 'twinsuk': 0.214, 'vietnamese': 0.061}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",A,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'codon_aligned_transcript_change': {'deleted_sequence': 'G', 'inserted_sequence': 'G', 'position': 240, 'seq_id': 'XR_923310.2'}, 'hgvs': 'XR_923310.2:n.241=', 'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001619', 'name': 'non_coding_transcript_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127115992.0,127115992.0,G,rs7594230,snv,127115992.0,127115992.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127115992G>A,,,,MODIFIER,,,,A,127115992,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,33298.0,11122.0,5945.0,5177.0,172.0,93.0,79.0,2836.0,1240.0,1596.0,616.0,315.0,301.0,684.0,304.0,380.0,1913.0,494.0,1419.0,91.0,47.0,44.0,14082.0,8103.0,5979.0,495.0,240.0,255.0,1287.0,304.0,983.0,17085.0,16213.0,0.219679,0.270069,0.270055,0.270086,0.189845,0.199571,0.179545,0.186187,0.183378,0.18843,0.177932,0.169173,0.188125,0.132764,0.133921,0.131853,0.18181,0.192368,0.178401,0.287975,0.286585,0.289474,0.207344,0.206183,0.208939,0.237524,0.23301,0.241935,0.267902,0.262976,0.269463,0.22019,0.219142,A,A,151576.0,41182.0,22014.0,19168.0,906.0,466.0,440.0,15232.0,6762.0,8470.0,3462.0,1862.0,1600.0,5152.0,2270.0,2882.0,10522.0,2568.0,7954.0,316.0,164.0,152.0,67916.0,39300.0,28616.0,2084.0,1030.0,1054.0,4804.0,1156.0,3648.0,77592.0,73984.0,0.0,59.9973,-0.014,1.0,16.1535,0.312,0.703501,22.5076,2,3828.0,1543.0,807.0,736.0,13.0,8.0,5.0,283.0,128.0,155.0,56.0,28.0,28.0,56.0,26.0,30.0,193.0,53.0,140.0,10.0,3.0,7.0,1420.0,821.0,599.0,70.0,34.0,36.0,184.0,42.0,142.0,1950.0,1878.0,0.0137631,127115992.0,G,rs7594230,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2014-08-21T16:14Z,rs386424156,142.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127127671A>T,17.123606,2,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.646, 'alspac': 0.711, 'dbgap_popfreq': 0.705, 'estonian': 0.715, 'genome_dk': 0.725, 'gnomad': 0.687, 'gonl': 0.744, 'korean': 0.614, 'northernsweden': 0.782, 'qatari': 0.667, 'sgdp_prj': 0.383, 'siberian': 0.346, 'topmed': 0.676, 'twinsuk': 0.708, 'vietnamese': 0.551}}, {'allele': 'G', 'freq': {'1000g': 0.354, 'alspac': 0.289, 'dbgap_popfreq': 0.295, 'estonian': 0.285, 'genome_dk': 0.275, 'gnomad': 0.313, 'gonl': 0.256, 'korean': 0.386, 'northernsweden': 0.218, 'qatari': 0.333, 'sgdp_prj': 0.617, 'siberian': 0.654, 'topmed': 0.324, 'twinsuk': 0.292, 'vietnamese': 0.449}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",T,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127127671.0,127127671.0,A,rs58682665,snv,127127671.0,127127671.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127127671A>T,,,,MODIFIER,,,,T,127127671,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-25T00:09Z,rs62158730,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127127671A>G,17.122793,2,True,CA55367734,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.646, 'alspac': 0.711, 'dbgap_popfreq': 0.705, 'estonian': 0.715, 'genome_dk': 0.725, 'gnomad': 0.687, 'gonl': 0.744, 'korean': 0.614, 'northernsweden': 0.782, 'qatari': 0.667, 'sgdp_prj': 0.383, 'siberian': 0.346, 'topmed': 0.676, 'twinsuk': 0.708, 'vietnamese': 0.551}}, {'allele': 'G', 'freq': {'1000g': 0.354, 'alspac': 0.289, 'dbgap_popfreq': 0.295, 'estonian': 0.285, 'genome_dk': 0.275, 'gnomad': 0.313, 'gonl': 0.256, 'korean': 0.386, 'northernsweden': 0.218, 'qatari': 0.333, 'sgdp_prj': 0.617, 'siberian': 0.654, 'topmed': 0.324, 'twinsuk': 0.292, 'vietnamese': 0.449}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",G,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127127671.0,127127671.0,A,rs58682665,snv,127127671.0,127127671.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127127671A>G,,,,MODIFIER,,,,G,127127671,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,47649.0,13406.0,7097.0,6309.0,326.0,167.0,159.0,5359.0,2415.0,2944.0,1358.0,718.0,640.0,2193.0,961.0,1232.0,3089.0,768.0,2321.0,109.0,58.0,51.0,19719.0,11372.0,8347.0,701.0,353.0,348.0,1389.0,335.0,1054.0,24244.0,23405.0,0.313621,0.324302,0.321393,0.327638,0.357456,0.355319,0.359729,0.35118,0.356405,0.347006,0.391354,0.38478,0.399002,0.423196,0.421861,0.424242,0.292685,0.299065,0.290634,0.344937,0.353659,0.335526,0.290002,0.289055,0.291303,0.336695,0.343385,0.330171,0.288055,0.288296,0.287978,0.311876,0.315448,G,G,151932.0,41338.0,22082.0,19256.0,912.0,470.0,442.0,15260.0,6776.0,8484.0,3470.0,1866.0,1604.0,5182.0,2278.0,2904.0,10554.0,2568.0,7986.0,316.0,164.0,152.0,67996.0,39342.0,28654.0,2082.0,1028.0,1054.0,4822.0,1162.0,3660.0,77736.0,74196.0,0.0,59.9967,0.0,1.0,16.4051,0.35,0.691099,22.4811,2,7570.0,2188.0,1158.0,1030.0,51.0,25.0,26.0,955.0,438.0,517.0,256.0,132.0,124.0,451.0,211.0,240.0,453.0,121.0,332.0,21.0,10.0,11.0,2867.0,1618.0,1249.0,120.0,63.0,57.0,208.0,53.0,155.0,3829.0,3741.0,0.00692803,127127671.0,A,rs58682665,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-25T00:09Z,rs62158730,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127133357T>C,17.123737,2,True,CA11082142,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.887, 'alspac': 0.855, 'dbgap_popfreq': 0.879, 'estonian': 0.842, 'genome_dk': 0.85, 'gnomad': 0.898, 'gonl': 0.842, 'korean': 0.886, 'northernsweden': 0.86, 'qatari': 0.884, 'sgdp_prj': 0.418, 'siberian': 0.385, 'tommo': 0.887, 'topmed': 0.908, 'twinsuk': 0.867, 'vietnamese': 0.833}}, {'allele': 'C', 'freq': {'1000g': 0.113, 'alspac': 0.145, 'dbgap_popfreq': 0.121, 'estonian': 0.158, 'genome_dk': 0.15, 'gnomad': 0.102, 'gonl': 0.158, 'korean': 0.114, 'northernsweden': 0.14, 'qatari': 0.116, 'sgdp_prj': 0.582, 'siberian': 0.615, 'tommo': 0.113, 'topmed': 0.092, 'twinsuk': 0.133, 'vietnamese': 0.167}}]",C,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127133357.0,127133357.0,T,rs35968837,snv,127133357.0,127133357.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127133357T>C,,,,MODIFIER,,,,C,127133357,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,16369.0,1088.0,586.0,502.0,100.0,55.0,45.0,1546.0,670.0,876.0,274.0,153.0,121.0,596.0,271.0,325.0,1792.0,402.0,1390.0,28.0,19.0,9.0,9519.0,5562.0,3957.0,179.0,76.0,103.0,1247.0,306.0,941.0,8100.0,8269.0,0.107746,0.0262904,0.0264895,0.0260617,0.109649,0.117021,0.10181,0.101311,0.0988784,0.103253,0.0790081,0.0819058,0.075625,0.11528,0.119069,0.112301,0.169665,0.156542,0.17388,0.0886076,0.115854,0.0592105,0.14008,0.141476,0.138163,0.085728,0.0736434,0.0975379,0.259359,0.264249,0.257808,0.104183,0.111481,C,C,151922.0,41384.0,22122.0,19262.0,912.0,470.0,442.0,15260.0,6776.0,8484.0,3468.0,1868.0,1600.0,5170.0,2276.0,2894.0,10562.0,2568.0,7994.0,316.0,164.0,152.0,67954.0,39314.0,28640.0,2088.0,1032.0,1056.0,4808.0,1158.0,3650.0,77748.0,74174.0,1.44649e-15,59.9969,-0.027,1.0,15.1286,0.37,0.69467,22.248,2,1189.0,21.0,16.0,5.0,8.0,2.0,6.0,72.0,33.0,39.0,10.0,3.0,7.0,33.0,22.0,11.0,167.0,41.0,126.0,2.0,2.0,0.0,680.0,394.0,286.0,15.0,4.0,11.0,181.0,39.0,142.0,556.0,633.0,0.0423651,127133357.0,T,rs35968837,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-25T21:15Z', 'rsid': 'rs60034543', 'rv': 130}, {'date': '2008-05-25T21:15Z', 'rsid': 'rs62158733', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.127133851A>C,17.123444,2,True,CA11197168,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.517, 'alspac': 0.58, 'dbgap_popfreq': 0.557, 'estonian': 0.582, 'genome_dk': 0.6, 'gnomad': 0.535, 'gonl': 0.561, 'korean': 0.546, 'northernsweden': 0.485, 'qatari': 0.579, 'sgdp_prj': 0.285, 'siberian': 0.31, 'tommo': 0.593, 'topmed': 0.53, 'twinsuk': 0.601}}, {'allele': 'C', 'freq': {'1000g': 0.483, 'alspac': 0.42, 'dbgap_popfreq': 0.443, 'estonian': 0.418, 'genome_dk': 0.4, 'gnomad': 0.465, 'gonl': 0.439, 'korean': 0.454, 'northernsweden': 0.515, 'qatari': 0.421, 'sgdp_prj': 0.715, 'siberian': 0.69, 'tommo': 0.407, 'topmed': 0.47, 'twinsuk': 0.399}}]",C,2,155.0,105373605.0,False,uncharacterized LOC105373605,"[{'refseq': 'XR_923310.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_923311.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105373605,127133851.0,127133851.0,A,rs4663105,snv,127133851.0,127133851.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BIN1-CYP27C1,intergenic_region,BIN1-CYP27C1,BIN1-CYP27C1,n.127133851A>C,,,,MODIFIER,,,,C,127133851,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,70057.0,23538.0,12583.0,10955.0,400.0,203.0,197.0,7052.0,3154.0,3898.0,1366.0,756.0,610.0,2336.0,1037.0,1299.0,4174.0,957.0,3217.0,111.0,57.0,54.0,27930.0,16176.0,11754.0,873.0,432.0,441.0,2277.0,561.0,1716.0,35916.0,34141.0,0.462355,0.571255,0.571799,0.570632,0.438596,0.431915,0.445701,0.462973,0.465879,0.460648,0.39366,0.405145,0.380299,0.454652,0.459663,0.450729,0.398663,0.375,0.406289,0.353503,0.351852,0.355263,0.411364,0.411855,0.410692,0.419308,0.420233,0.418406,0.47398,0.484456,0.470653,0.463169,0.461502,C,C,151522.0,41204.0,22006.0,19198.0,912.0,470.0,442.0,15232.0,6770.0,8462.0,3470.0,1866.0,1604.0,5138.0,2256.0,2882.0,10470.0,2552.0,7918.0,314.0,162.0,152.0,67896.0,39276.0,28620.0,2082.0,1028.0,1054.0,4804.0,1158.0,3646.0,77544.0,73978.0,4.82164e-16,59.952,-0.022,1.0,19.2638,0.017,0.669058,6.612,2,16652.0,6752.0,3630.0,3122.0,86.0,42.0,44.0,1622.0,748.0,874.0,283.0,150.0,133.0,527.0,250.0,277.0,845.0,188.0,657.0,21.0,11.0,10.0,5768.0,3317.0,2451.0,205.0,100.0,105.0,543.0,131.0,412.0,8567.0,8085.0,0.0255372,127133851.0,A,rs4663105,snp,"[23399914, 25778476]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T02:59Z,rs60350203,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.134707046A>T,17.12388,2,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.42, 'alspac': 0.735, 'dbgap_popfreq': 0.745, 'estonian': 0.699, 'genome_dk': 0.8, 'gnomad': 0.591, 'gonl': 0.76, 'korea1k': 0.313, 'korean': 0.302, 'northernsweden': 0.73, 'qatari': 0.375, 'sgdp_prj': 0.221, 'siberian': 0.265, 'tommo': 0.34, 'topmed': 0.564, 'twinsuk': 0.745, 'vietnamese': 0.28}}, {'allele': 'G', 'freq': {'1000g': 0.58, 'alspac': 0.265, 'dbgap_popfreq': 0.255, 'estonian': 0.301, 'genome_dk': 0.2, 'gnomad': 0.409, 'gonl': 0.24, 'korea1k': 0.687, 'korean': 0.698, 'northernsweden': 0.27, 'qatari': 0.625, 'sgdp_prj': 0.779, 'siberian': 0.735, 'tommo': 0.66, 'topmed': 0.436, 'twinsuk': 0.255, 'vietnamese': 0.72}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",T,2,155.0,81615.0,False,transmembrane protein 163,"[{'hgvs': 'NM_030923.5:c.322+6154=', 'protein_product': {'refseq': 'NP_112185.1'}, 'refseq': 'NM_030923.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011511950.2:c.-12+6154=', 'protein_product': {'refseq': 'XP_011510252.1'}, 'refseq': 'XM_011511950.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005060.2:c.322+6154=', 'protein_product': {'refseq': 'XP_016860549.1'}, 'refseq': 'XM_017005060.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005061.1:c.-12+6154=', 'protein_product': {'refseq': 'XP_016860550.1'}, 'refseq': 'XM_017005061.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005062.1:c.322+6154=', 'protein_product': {'refseq': 'XP_016860551.1'}, 'refseq': 'XM_017005062.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,TMEM163,134707046.0,134707046.0,A,rs57891859,snv,134707046.0,134707046.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_030923.4,transcript,TMEM163,TMEM163,c.322+6154T>A,,,,MODIFIER,2,7,protein_coding,T,134707046,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.134707046A>G,17.123661,2,True,CA11084036,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.42, 'alspac': 0.735, 'dbgap_popfreq': 0.745, 'estonian': 0.699, 'genome_dk': 0.8, 'gnomad': 0.591, 'gonl': 0.76, 'korea1k': 0.313, 'korean': 0.302, 'northernsweden': 0.73, 'qatari': 0.375, 'sgdp_prj': 0.221, 'siberian': 0.265, 'tommo': 0.34, 'topmed': 0.564, 'twinsuk': 0.745, 'vietnamese': 0.28}}, {'allele': 'G', 'freq': {'1000g': 0.58, 'alspac': 0.265, 'dbgap_popfreq': 0.255, 'estonian': 0.301, 'genome_dk': 0.2, 'gnomad': 0.409, 'gonl': 0.24, 'korea1k': 0.687, 'korean': 0.698, 'northernsweden': 0.27, 'qatari': 0.625, 'sgdp_prj': 0.779, 'siberian': 0.735, 'tommo': 0.66, 'topmed': 0.436, 'twinsuk': 0.255, 'vietnamese': 0.72}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",G,2,155.0,81615.0,False,transmembrane protein 163,"[{'hgvs': 'NM_030923.5:c.322+6154=', 'protein_product': {'refseq': 'NP_112185.1'}, 'refseq': 'NM_030923.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011511950.2:c.-12+6154=', 'protein_product': {'refseq': 'XP_011510252.1'}, 'refseq': 'XM_011511950.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005060.2:c.322+6154=', 'protein_product': {'refseq': 'XP_016860549.1'}, 'refseq': 'XM_017005060.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005061.1:c.-12+6154=', 'protein_product': {'refseq': 'XP_016860550.1'}, 'refseq': 'XM_017005061.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005062.1:c.322+6154=', 'protein_product': {'refseq': 'XP_016860551.1'}, 'refseq': 'XM_017005062.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,TMEM163,134707046.0,134707046.0,A,rs57891859,snv,134707046.0,134707046.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_030923.4,transcript,TMEM163,TMEM163,c.322+6154T>C,,,,MODIFIER,2,7,protein_coding,G,134707046,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,63186.0,26036.0,13828.0,12208.0,140.0,82.0,58.0,6260.0,2851.0,3409.0,1398.0,762.0,636.0,3861.0,1715.0,2146.0,2945.0,719.0,2226.0,139.0,78.0,61.0,18796.0,10866.0,7930.0,889.0,444.0,445.0,2722.0,696.0,2026.0,32041.0,31145.0,0.415823,0.62968,0.625645,0.634314,0.153509,0.174468,0.131222,0.41033,0.420626,0.4021,0.40265,0.407923,0.396509,0.74652,0.754842,0.74,0.278566,0.279549,0.27825,0.442675,0.481481,0.401316,0.276452,0.276207,0.276789,0.424952,0.430233,0.419811,0.564028,0.597938,0.55325,0.41205,0.419778,G,G,151954.0,41348.0,22102.0,19246.0,912.0,470.0,442.0,15256.0,6778.0,8478.0,3472.0,1868.0,1604.0,5172.0,2272.0,2900.0,10572.0,2572.0,8000.0,314.0,162.0,152.0,67990.0,39340.0,28650.0,2092.0,1032.0,1060.0,4826.0,1164.0,3662.0,77760.0,74194.0,9.64327e-16,59.9975,-0.032,1.0,18.9658,0.343,0.688494,22.4413,2,15469.0,8247.0,4382.0,3865.0,13.0,8.0,5.0,1361.0,626.0,735.0,289.0,160.0,129.0,1440.0,646.0,794.0,415.0,95.0,320.0,36.0,20.0,16.0,2644.0,1529.0,1115.0,201.0,105.0,96.0,823.0,216.0,607.0,7787.0,7682.0,0.126845,134707046.0,A,rs57891859,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.134707046A>C,17.12324,2,True,CA56747977,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.42, 'alspac': 0.735, 'dbgap_popfreq': 0.745, 'estonian': 0.699, 'genome_dk': 0.8, 'gnomad': 0.591, 'gonl': 0.76, 'korea1k': 0.313, 'korean': 0.302, 'northernsweden': 0.73, 'qatari': 0.375, 'sgdp_prj': 0.221, 'siberian': 0.265, 'tommo': 0.34, 'topmed': 0.564, 'twinsuk': 0.745, 'vietnamese': 0.28}}, {'allele': 'G', 'freq': {'1000g': 0.58, 'alspac': 0.265, 'dbgap_popfreq': 0.255, 'estonian': 0.301, 'genome_dk': 0.2, 'gnomad': 0.409, 'gonl': 0.24, 'korea1k': 0.687, 'korean': 0.698, 'northernsweden': 0.27, 'qatari': 0.625, 'sgdp_prj': 0.779, 'siberian': 0.735, 'tommo': 0.66, 'topmed': 0.436, 'twinsuk': 0.255, 'vietnamese': 0.72}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",C,2,155.0,81615.0,False,transmembrane protein 163,"[{'hgvs': 'NM_030923.5:c.322+6154=', 'protein_product': {'refseq': 'NP_112185.1'}, 'refseq': 'NM_030923.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011511950.2:c.-12+6154=', 'protein_product': {'refseq': 'XP_011510252.1'}, 'refseq': 'XM_011511950.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005060.2:c.322+6154=', 'protein_product': {'refseq': 'XP_016860549.1'}, 'refseq': 'XM_017005060.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005061.1:c.-12+6154=', 'protein_product': {'refseq': 'XP_016860550.1'}, 'refseq': 'XM_017005061.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017005062.1:c.322+6154=', 'protein_product': {'refseq': 'XP_016860551.1'}, 'refseq': 'XM_017005062.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,TMEM163,134707046.0,134707046.0,A,rs57891859,snv,134707046.0,134707046.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_030923.4,transcript,TMEM163,TMEM163,c.322+6154T>G,,,,MODIFIER,2,7,protein_coding,C,134707046,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr2:g.168235432A>C,17.123613,2,True,CA11131522,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.818, 'alspac': 0.866, 'daghestan': 0.838, 'dbgap_popfreq': 0.863, 'genome_dk': 0.925, 'gnomad': 0.861, 'gonl': 0.866, 'hapmap': 0.87, 'korea1k': 0.716, 'korean': 0.695, 'northernsweden': 0.846, 'page_study': 0.831, 'prjeb37584': 0.671, 'qatari': 0.88, 'sgdp_prj': 0.438, 'siberian': 0.45, 'tommo': 0.757, 'topmed': 0.856, 'twinsuk': 0.868}}, {'allele': 'C', 'freq': {'1000g': 0.182, 'alspac': 0.134, 'daghestan': 0.162, 'dbgap_popfreq': 0.137, 'genome_dk': 0.075, 'gnomad': 0.139, 'gonl': 0.134, 'hapmap': 0.13, 'korea1k': 0.284, 'korean': 0.305, 'northernsweden': 0.154, 'page_study': 0.169, 'prjeb37584': 0.329, 'qatari': 0.12, 'sgdp_prj': 0.562, 'siberian': 0.55, 'tommo': 0.243, 'topmed': 0.144, 'twinsuk': 0.132}}]",C,2,155.0,27347.0,False,serine/threonine kinase 39,"[{'hgvs': 'NM_013233.3:c.208+11796=', 'protein_product': {'refseq': 'NP_037365.2'}, 'refseq': 'NM_013233.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005246465.2:c.208+11796=', 'protein_product': {'refseq': 'XP_005246522.1'}, 'refseq': 'XM_005246465.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017003813.2:c.208+11796=', 'protein_product': {'refseq': 'XP_016859302.1'}, 'refseq': 'XM_017003813.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017003814.2:c.208+11796=', 'protein_product': {'refseq': 'XP_016859303.1'}, 'refseq': 'XM_017003814.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_016859304.1'}, 'refseq': 'XM_017003815.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_017003816.2:c.208+11796=', 'protein_product': {'refseq': 'XP_016859305.1'}, 'refseq': 'XM_017003816.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_016859306.1'}, 'refseq': 'XM_017003817.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}]",-,STK39,168235432.0,168235432.0,A,rs2390669,snv,168235432.0,168235432.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_013233.2,transcript,STK39,STK39,c.208+11796T>G,,,,MODIFIER,1,17,protein_coding,C,168235432,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,20845.0,4278.0,2313.0,1965.0,128.0,66.0,62.0,2941.0,1368.0,1573.0,325.0,190.0,135.0,1613.0,721.0,892.0,1133.0,294.0,839.0,71.0,41.0,30.0,9098.0,5356.0,3742.0,313.0,156.0,157.0,945.0,229.0,716.0,10734.0,10111.0,0.144232,0.118919,0.119374,0.118388,0.141593,0.141631,0.141553,0.1981,0.206959,0.190991,0.0945867,0.103037,0.084799,0.32494,0.328324,0.322254,0.11249,0.119125,0.110337,0.227564,0.25,0.202703,0.135005,0.137291,0.131863,0.156188,0.158215,0.154224,0.204457,0.2041,0.204571,0.144577,0.143867,C,C,144524.0,35974.0,19376.0,16598.0,904.0,466.0,438.0,14846.0,6610.0,8236.0,3436.0,1844.0,1592.0,4964.0,2196.0,2768.0,10072.0,2468.0,7604.0,312.0,164.0,148.0,67390.0,39012.0,28378.0,2004.0,986.0,1018.0,4622.0,1122.0,3500.0,74244.0,70280.0,0.521486,59.9604,-0.021,1.0,14.9334,0.198,0.7401,5.183,2,1562.0,230.0,132.0,98.0,5.0,4.0,1.0,292.0,137.0,155.0,14.0,9.0,5.0,276.0,129.0,147.0,63.0,19.0,44.0,8.0,4.0,4.0,556.0,350.0,206.0,27.0,12.0,15.0,91.0,19.0,72.0,815.0,747.0,0.0138701,168235432.0,A,rs2390669,snp,"[22438815, 22892372, 29564728]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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'9', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '725', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001347.3', 'feature_type': 'transcript', 'gene_id': 'DGKQ', 'genename': 'DGKQ', 'hgvs_c': 'c.*2461A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}]",http://bit.ly/2SQdcI0,1236375.0,C,4,4p16.3,84286,TMEM175,951947.0,951947.0,958159.0,958159.0,"['NM_001297423.2:c.932T>C', 'NM_001297424.2:c.932T>C', 'NM_001297425.2:c.932T>C', 'NM_001297426.2:c.830T>C', 'NM_001297427.2:c.830T>C', 'NM_001297428.2:c.830T>C', 'NM_032326.4:c.1178T>C']","['NC_000004.11:g.951947T>C', 'NC_000004.12:g.958159T>C']","['NP_001284352.1:p.Met311Thr', 'NP_001284353.1:p.Met311Thr', 'NP_001284354.1:p.Met311Thr', 'NP_001284355.1:p.Met277Thr', 'NP_001284356.1:p.Met277Thr', 'NP_001284357.1:p.Met277Thr', 'NP_115702.1:p.Met393Thr']",RCV001656100,Benign,CN517202,,not provided,['none provided'],2019-04-19,1.0,germline,NM_032326.4(TMEM175):c.1178T>C (p.Met393Thr),"criteria 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+chr4:g.15708707A>C,17.1237,4,True,CA11681075,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.501, 'alspac': 0.566, 'dbgap_popfreq': 0.563, 'estonian': 0.558, 'genome_dk': 0.575, 'gnomad': 0.515, 'gonl': 0.55, 'korea1k': 0.45, 'korean': 0.425, 'northernsweden': 0.593, 'qatari': 0.625, 'sgdp_prj': 0.318, 'siberian': 0.261, 'tommo': 0.446, 'topmed': 0.512, 'twinsuk': 0.567, 'vietnamese': 0.421}}, {'allele': 'C', 'freq': {'1000g': 0.499, 'alspac': 0.434, 'dbgap_popfreq': 0.437, 'estonian': 0.442, 'genome_dk': 0.425, 'gnomad': 0.485, 'gonl': 0.45, 'korea1k': 0.55, 'korean': 0.575, 'northernsweden': 0.407, 'qatari': 0.375, 'sgdp_prj': 0.682, 'siberian': 0.739, 'tommo': 0.554, 'topmed': 0.488, 'twinsuk': 0.433, 'vietnamese': 0.579}}, {'allele': 'G', 'freq': {'korean': 0.0}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",C,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.451+1061=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.451+1061=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.451+1061=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.277+1061=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15708707.0,15708707.0,A,rs35519415,snv,15708707.0,15708707.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_004334.2,transcript,BST1,BST1,c.451+1061A>C,,,,MODIFIER,3,8,protein_coding,C,15708707,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,73090.0,24301.0,13020.0,11281.0,371.0,189.0,182.0,6554.0,2882.0,3672.0,1695.0,896.0,799.0,2866.0,1249.0,1617.0,4319.0,1031.0,3288.0,110.0,59.0,51.0,29872.0,17304.0,12568.0,941.0,459.0,482.0,2061.0,528.0,1533.0,37617.0,35473.0,0.481927,0.589315,0.591012,0.587369,0.407692,0.403846,0.411765,0.430165,0.425827,0.433632,0.490168,0.480687,0.501255,0.555211,0.549736,0.559516,0.410084,0.401167,0.412962,0.350318,0.359756,0.34,0.43976,0.440261,0.439072,0.452404,0.445631,0.459048,0.428839,0.454389,0.420692,0.484555,0.479171,C,C,151662.0,41236.0,22030.0,19206.0,910.0,468.0,442.0,15236.0,6768.0,8468.0,3458.0,1864.0,1594.0,5162.0,2272.0,2890.0,10532.0,2570.0,7962.0,314.0,164.0,150.0,67928.0,39304.0,28624.0,2080.0,1030.0,1050.0,4806.0,1162.0,3644.0,77632.0,74030.0,0.0,59.9491,-0.021,1.0,19.8084,0.348,0.695701,7.1948,4,18123.0,7202.0,3857.0,3345.0,73.0,37.0,36.0,1453.0,661.0,792.0,418.0,217.0,201.0,770.0,330.0,440.0,892.0,214.0,678.0,22.0,11.0,11.0,6597.0,3830.0,2767.0,213.0,103.0,110.0,483.0,135.0,348.0,9395.0,8728.0,0.0278506,15708707.0,A,rs35519415,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-23T09:27Z', 'rsid': 'rs56666076', 'rv': 130}, {'date': '2008-05-23T09:27Z', 'rsid': 'rs62290608', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.15708707A>T,17.123388,4,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.501, 'alspac': 0.566, 'dbgap_popfreq': 0.563, 'estonian': 0.558, 'genome_dk': 0.575, 'gnomad': 0.515, 'gonl': 0.55, 'korea1k': 0.45, 'korean': 0.425, 'northernsweden': 0.593, 'qatari': 0.625, 'sgdp_prj': 0.318, 'siberian': 0.261, 'tommo': 0.446, 'topmed': 0.512, 'twinsuk': 0.567, 'vietnamese': 0.421}}, {'allele': 'C', 'freq': {'1000g': 0.499, 'alspac': 0.434, 'dbgap_popfreq': 0.437, 'estonian': 0.442, 'genome_dk': 0.425, 'gnomad': 0.485, 'gonl': 0.45, 'korea1k': 0.55, 'korean': 0.575, 'northernsweden': 0.407, 'qatari': 0.375, 'sgdp_prj': 0.682, 'siberian': 0.739, 'tommo': 0.554, 'topmed': 0.488, 'twinsuk': 0.433, 'vietnamese': 0.579}}, {'allele': 'G', 'freq': {'korean': 0.0}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.451+1061=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.451+1061=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.451+1061=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.277+1061=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15708707.0,15708707.0,A,rs35519415,snv,15708707.0,15708707.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_004334.2,transcript,BST1,BST1,c.451+1061A>T,,,,MODIFIER,3,8,protein_coding,T,15708707,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-23T09:27Z', 'rsid': 'rs56666076', 'rv': 130}, {'date': '2008-05-23T09:27Z', 'rsid': 'rs62290608', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.15708707A>G,17.123325,4,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.501, 'alspac': 0.566, 'dbgap_popfreq': 0.563, 'estonian': 0.558, 'genome_dk': 0.575, 'gnomad': 0.515, 'gonl': 0.55, 'korea1k': 0.45, 'korean': 0.425, 'northernsweden': 0.593, 'qatari': 0.625, 'sgdp_prj': 0.318, 'siberian': 0.261, 'tommo': 0.446, 'topmed': 0.512, 'twinsuk': 0.567, 'vietnamese': 0.421}}, {'allele': 'C', 'freq': {'1000g': 0.499, 'alspac': 0.434, 'dbgap_popfreq': 0.437, 'estonian': 0.442, 'genome_dk': 0.425, 'gnomad': 0.485, 'gonl': 0.45, 'korea1k': 0.55, 'korean': 0.575, 'northernsweden': 0.407, 'qatari': 0.375, 'sgdp_prj': 0.682, 'siberian': 0.739, 'tommo': 0.554, 'topmed': 0.488, 'twinsuk': 0.433, 'vietnamese': 0.579}}, {'allele': 'G', 'freq': {'korean': 0.0}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",G,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.451+1061=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.451+1061=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.451+1061=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.451+1061=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.277+1061=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.451+1061=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15708707.0,15708707.0,A,rs35519415,snv,15708707.0,15708707.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_004334.2,transcript,BST1,BST1,c.451+1061A>G,,,,MODIFIER,3,8,protein_coding,G,15708707,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-23T09:27Z', 'rsid': 'rs56666076', 'rv': 130}, {'date': '2008-05-23T09:27Z', 'rsid': 'rs62290608', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.15722038G>C,17.123661,4,True,CA11746442,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.649, 'alspac': 0.742, 'dbgap_popfreq': 0.703, 'estonian': 0.781, 'gnomad': 0.654, 'gonl': 0.756, 'hapmap': 0.594, 'korea1k': 0.635, 'korean': 0.616, 'northernsweden': 0.728, 'qatari': 0.718, 'sgdp_prj': 0.361, 'siberian': 0.389, 'tommo': 0.669, 'topmed': 0.641, 'twinsuk': 0.745, 'vietnamese': 0.659}}, {'allele': 'A', 'freq': {'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.351, 'alspac': 0.258, 'dbgap_popfreq': 0.297, 'estonian': 0.219, 'gnomad': 0.346, 'gonl': 0.244, 'hapmap': 0.406, 'korea1k': 0.365, 'korean': 0.384, 'northernsweden': 0.272, 'qatari': 0.282, 'sgdp_prj': 0.639, 'siberian': 0.611, 'tommo': 0.331, 'topmed': 0.359, 'twinsuk': 0.255, 'vietnamese': 0.341}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",C,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.792-837=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.792-837=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.792-837=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.618-837=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15722038.0,15722038.0,G,rs9291637,snv,15722038.0,15722038.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,15722038,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,51300.0,22196.0,11795.0,10401.0,218.0,118.0,100.0,4522.0,2093.0,2429.0,1216.0,645.0,571.0,1863.0,810.0,1053.0,2232.0,525.0,1707.0,90.0,50.0,40.0,17302.0,10039.0,7263.0,686.0,337.0,349.0,975.0,252.0,723.0,26664.0,24636.0,0.338109,0.538398,0.535406,0.541832,0.23956,0.252137,0.226244,0.29668,0.309158,0.286709,0.350634,0.345289,0.356875,0.361187,0.357458,0.364108,0.211484,0.20428,0.213803,0.28481,0.304878,0.263158,0.254583,0.255315,0.253579,0.328859,0.325919,0.331749,0.202956,0.216867,0.198517,0.343378,0.332586,C,C,151726.0,41226.0,22030.0,19196.0,910.0,468.0,442.0,15242.0,6770.0,8472.0,3468.0,1868.0,1600.0,5158.0,2266.0,2892.0,10554.0,2570.0,7984.0,316.0,164.0,152.0,67962.0,39320.0,28642.0,2086.0,1034.0,1052.0,4804.0,1162.0,3642.0,77652.0,74074.0,4.82164e-16,59.9967,0.0,1.0,18.1534,0.299,0.692526,22.6843,4,9949.0,6005.0,3176.0,2829.0,22.0,14.0,8.0,707.0,360.0,347.0,212.0,112.0,100.0,326.0,130.0,196.0,204.0,52.0,152.0,11.0,5.0,6.0,2223.0,1283.0,940.0,118.0,52.0,66.0,121.0,32.0,89.0,5216.0,4733.0,0.0759881,15722038.0,G,rs9291637,snp,,"[{'effect': 'sequence_feature', 'feature_id': 'NM_004334.2', 'feature_type': 'helix:combinatorial_evidence_used_in_manual_assertion', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>C', 'putative_impact': 'LOW', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_004334.2', 'feature_type': 'transcript', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>C', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.15722038G>A,17.123268,4,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.649, 'alspac': 0.742, 'dbgap_popfreq': 0.703, 'estonian': 0.781, 'gnomad': 0.654, 'gonl': 0.756, 'hapmap': 0.594, 'korea1k': 0.635, 'korean': 0.616, 'northernsweden': 0.728, 'qatari': 0.718, 'sgdp_prj': 0.361, 'siberian': 0.389, 'tommo': 0.669, 'topmed': 0.641, 'twinsuk': 0.745, 'vietnamese': 0.659}}, {'allele': 'A', 'freq': {'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.351, 'alspac': 0.258, 'dbgap_popfreq': 0.297, 'estonian': 0.219, 'gnomad': 0.346, 'gonl': 0.244, 'hapmap': 0.406, 'korea1k': 0.365, 'korean': 0.384, 'northernsweden': 0.272, 'qatari': 0.282, 'sgdp_prj': 0.639, 'siberian': 0.611, 'tommo': 0.331, 'topmed': 0.359, 'twinsuk': 0.255, 'vietnamese': 0.341}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",A,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.792-837=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.792-837=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.792-837=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.618-837=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15722038.0,15722038.0,G,rs9291637,snv,15722038.0,15722038.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,15722038,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'sequence_feature', 'feature_id': 'NM_004334.2', 'feature_type': 'helix:combinatorial_evidence_used_in_manual_assertion', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>A', 'putative_impact': 'LOW', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_004334.2', 'feature_type': 'transcript', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>A', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.15722038G>T,17.12307,4,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.649, 'alspac': 0.742, 'dbgap_popfreq': 0.703, 'estonian': 0.781, 'gnomad': 0.654, 'gonl': 0.756, 'hapmap': 0.594, 'korea1k': 0.635, 'korean': 0.616, 'northernsweden': 0.728, 'qatari': 0.718, 'sgdp_prj': 0.361, 'siberian': 0.389, 'tommo': 0.669, 'topmed': 0.641, 'twinsuk': 0.745, 'vietnamese': 0.659}}, {'allele': 'A', 'freq': {'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.351, 'alspac': 0.258, 'dbgap_popfreq': 0.297, 'estonian': 0.219, 'gnomad': 0.346, 'gonl': 0.244, 'hapmap': 0.406, 'korea1k': 0.365, 'korean': 0.384, 'northernsweden': 0.272, 'qatari': 0.282, 'sgdp_prj': 0.639, 'siberian': 0.611, 'tommo': 0.331, 'topmed': 0.359, 'twinsuk': 0.255, 'vietnamese': 0.341}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,4,155.0,683.0,False,bone marrow stromal cell antigen 1,"[{'hgvs': 'NM_004334.3:c.792-837=', 'protein_product': {'refseq': 'NP_004325.2'}, 'refseq': 'NM_004334.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248185.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248242.1'}, 'refseq': 'XM_005248185.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248186.2:c.792-837=', 'protein_product': {'refseq': 'XP_005248243.1'}, 'refseq': 'XM_005248186.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513878.3:c.792-837=', 'protein_product': {'refseq': 'XP_011512180.1'}, 'refseq': 'XM_011513878.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513879.2:c.792-837=', 'protein_product': {'refseq': 'XP_011512181.1'}, 'refseq': 'XM_011513879.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011513881.2:c.618-837=', 'protein_product': {'refseq': 'XP_011512183.1'}, 'refseq': 'XM_011513881.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008565.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864054.1'}, 'refseq': 'XM_017008565.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017008566.2:c.792-837=', 'protein_product': {'refseq': 'XP_016864055.1'}, 'refseq': 'XM_017008566.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BST1,15722038.0,15722038.0,G,rs9291637,snv,15722038.0,15722038.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,15722038,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'sequence_feature', 'feature_id': 'NM_004334.2', 'feature_type': 'helix:combinatorial_evidence_used_in_manual_assertion', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>T', 'putative_impact': 'LOW', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_004334.2', 'feature_type': 'transcript', 'gene_id': 'BST1', 'genename': 'BST1', 'hgvs_c': 'c.792-837G>T', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '8', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr4:g.76262281T>C,17.123487,4,True,CA16189259,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.799, 'alspac': 0.788, 'dbgap_popfreq': 0.782, 'estonian': 0.828, 'genome_dk': 0.725, 'gnomad': 0.765, 'gonl': 0.78, 'hapmap': 0.821, 'korea1k': 0.957, 'korean': 0.966, 'northernsweden': 0.818, 'qatari': 0.662, 'sgdp_prj': 0.444, 'siberian': 0.5, 'tommo': 0.966, 'topmed': 0.773, 'twinsuk': 0.77, 'vietnamese': 0.986}}, {'allele': 'C', 'freq': {'1000g': 0.201, 'alspac': 0.212, 'dbgap_popfreq': 0.218, 'estonian': 0.172, 'genome_dk': 0.275, 'gnomad': 0.235, 'gonl': 0.22, 'hapmap': 0.179, 'korea1k': 0.043, 'korean': 0.034, 'northernsweden': 0.182, 'qatari': 0.338, 'sgdp_prj': 0.556, 'siberian': 0.5, 'tommo': 0.034, 'topmed': 0.227, 'twinsuk': 0.23, 'vietnamese': 0.014}}]",C,4,155.0,,,,,,,76262281.0,76262281.0,T,rs7654472,snv,76262281.0,76262281.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,76262281,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,34940.0,12388.0,6514.0,5874.0,194.0,110.0,84.0,2952.0,1265.0,1687.0,486.0,248.0,238.0,154.0,62.0,92.0,2478.0,590.0,1888.0,93.0,51.0,42.0,14740.0,8453.0,6287.0,452.0,245.0,207.0,1003.0,256.0,747.0,17794.0,17146.0,0.22985,0.299545,0.294698,0.305111,0.212719,0.234043,0.190045,0.193295,0.186413,0.198798,0.140219,0.133047,0.148564,0.0296268,0.027193,0.0315284,0.233906,0.229572,0.235294,0.296178,0.314815,0.276316,0.216822,0.214936,0.219411,0.216268,0.237403,0.195652,0.207746,0.219554,0.203987,0.228826,0.230923,C,C,152012.0,41356.0,22104.0,19252.0,912.0,470.0,442.0,15272.0,6786.0,8486.0,3466.0,1864.0,1602.0,5198.0,2280.0,2918.0,10594.0,2570.0,8024.0,314.0,162.0,152.0,67982.0,39328.0,28654.0,2090.0,1032.0,1058.0,4828.0,1166.0,3662.0,77762.0,74250.0,0.0,59.9949,-0.015,1.0,15.6945,0.332,0.686247,22.7853,4,4270.0,1849.0,955.0,894.0,21.0,8.0,13.0,288.0,127.0,161.0,32.0,15.0,17.0,4.0,2.0,2.0,291.0,69.0,222.0,17.0,12.0,5.0,1606.0,894.0,712.0,54.0,29.0,25.0,108.0,33.0,75.0,2144.0,2126.0,0.0195505,76262281.0,T,rs7654472,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001136570.2', 'feature_type': 'transcript', 'gene_id': 'FAM47E', 'genename': 'FAM47E', 'hgvs_c': 'c.421-1423T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '7', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001242939.1', 'feature_type': 'transcript', 'gene_id': 'FAM47E-STBD1', 'genename': 'FAM47E-STBD1', 'hgvs_c': 'c.421-1423T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001242936.1', 'feature_type': 'transcript', 'gene_id': 'FAM47E', 'genename': 'FAM47E', 'hgvs_c': 'c.82-1423T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '7', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-10-8T01:20Z,rs17297883,123.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'geneid': 100129583, 'is_pseudo': False, 'name': 'family with sequence similarity 47 member E', 'rnas': [{'hgvs': 'NM_001136570.3:c.421-1423=', 'protein_product': {'refseq': 'NP_001130042.1'}, 'refseq': 'NM_001136570.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001242936.1:c.82-1423=', 'protein_product': {'refseq': 'NP_001229865.1'}, 'refseq': 'NM_001242936.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '+', 'symbol': 'FAM47E'}, {'geneid': 100631383, 'is_pseudo': False, 'name': 'FAM47E-STBD1 readthrough', 'rnas': [{'hgvs': 'NM_001242939.2:c.421-1423=', 'protein_product': {'refseq': 'NP_001229868.1'}, 'refseq': 'NM_001242939.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '+', 'symbol': 'FAM47E-STBD1'}, {'geneid': 105377286, 'is_pseudo': False, 'name': 'uncharacterized LOC105377286', 'rnas': [{'refseq': 'XR_001741406.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001741407.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938896.3', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938897.3', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}], 'strand': '-', 'symbol': 'LOC105377286'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr4:g.89631769A>T,17.123571,4,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.849, 'alspac': 0.918, 'dbgap_popfreq': 0.912, 'estonian': 0.941, 'genome_dk': 0.975, 'gnomad': 0.892, 'gonl': 0.922, 'hapmap': 0.848, 'hgdp_stanford': 0.807, 'korea1k': 0.77, 'korean': 0.777, 'northernsweden': 0.92, 'page_study': 0.845, 'prjeb36033': 0.941, 'prjeb37584': 0.765, 'qatari': 0.727, 'sgdp_prj': 0.439, 'siberian': 0.45, 'tommo': 0.774, 'topmed': 0.884, 'twinsuk': 0.927, 'vietnamese': 0.841}}, {'allele': 'G', 'freq': {'1000g': 0.151, 'alspac': 0.082, 'dbgap_popfreq': 0.088, 'estonian': 0.059, 'genome_dk': 0.025, 'gnomad': 0.108, 'gonl': 0.078, 'hapmap': 0.152, 'hgdp_stanford': 0.193, 'korea1k': 0.23, 'korean': 0.223, 'northernsweden': 0.08, 'page_study': 0.155, 'prjeb36033': 0.059, 'prjeb37584': 0.235, 'qatari': 0.273, 'sgdp_prj': 0.561, 'siberian': 0.55, 'tommo': 0.226, 'topmed': 0.116, 'twinsuk': 0.073, 'vietnamese': 0.159}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}]",+,LOC105377329,89631769.0,89631769.0,A,rs1430961,snv,89631769.0,89631769.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89631769A>T,,,,MODIFIER,,,,T,89631769,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T20:02Z,rs57256643,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89631769A>G,17.123383,4,True,CA101486525,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.849, 'alspac': 0.918, 'dbgap_popfreq': 0.912, 'estonian': 0.941, 'genome_dk': 0.975, 'gnomad': 0.892, 'gonl': 0.922, 'hapmap': 0.848, 'hgdp_stanford': 0.807, 'korea1k': 0.77, 'korean': 0.777, 'northernsweden': 0.92, 'page_study': 0.845, 'prjeb36033': 0.941, 'prjeb37584': 0.765, 'qatari': 0.727, 'sgdp_prj': 0.439, 'siberian': 0.45, 'tommo': 0.774, 'topmed': 0.884, 'twinsuk': 0.927, 'vietnamese': 0.841}}, {'allele': 'G', 'freq': {'1000g': 0.151, 'alspac': 0.082, 'dbgap_popfreq': 0.088, 'estonian': 0.059, 'genome_dk': 0.025, 'gnomad': 0.108, 'gonl': 0.078, 'hapmap': 0.152, 'hgdp_stanford': 0.193, 'korea1k': 0.23, 'korean': 0.223, 'northernsweden': 0.08, 'page_study': 0.155, 'prjeb36033': 0.059, 'prjeb37584': 0.235, 'qatari': 0.273, 'sgdp_prj': 0.561, 'siberian': 0.55, 'tommo': 0.226, 'topmed': 0.116, 'twinsuk': 0.073, 'vietnamese': 0.159}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",G,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}]",+,LOC105377329,89631769.0,89631769.0,A,rs1430961,snv,89631769.0,89631769.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89631769A>G,,,,MODIFIER,,,,G,89631769,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,16901.0,6161.0,3314.0,2847.0,53.0,23.0,30.0,1954.0,945.0,1009.0,455.0,238.0,217.0,1007.0,433.0,574.0,939.0,252.0,687.0,64.0,33.0,31.0,5129.0,2937.0,2192.0,247.0,127.0,120.0,892.0,209.0,683.0,8511.0,8390.0,0.11114,0.148759,0.149806,0.147559,0.058114,0.0489362,0.0678733,0.127947,0.139175,0.118958,0.131048,0.127409,0.135287,0.194928,0.190581,0.198341,0.0885181,0.0979782,0.0854903,0.202532,0.20122,0.203947,0.0754309,0.074672,0.0764722,0.118182,0.123301,0.113208,0.184985,0.180484,0.186408,0.109427,0.112933,G,G,152070.0,41416.0,22122.0,19294.0,912.0,470.0,442.0,15272.0,6790.0,8482.0,3472.0,1868.0,1604.0,5166.0,2272.0,2894.0,10608.0,2572.0,8036.0,316.0,164.0,152.0,67996.0,39332.0,28664.0,2090.0,1030.0,1060.0,4822.0,1158.0,3664.0,77778.0,74292.0,0.0,59.9979,-0.015,1.0,14.9687,0.38,0.691905,22.5716,4,1088.0,457.0,245.0,212.0,3.0,0.0,3.0,134.0,83.0,51.0,31.0,16.0,15.0,108.0,51.0,57.0,33.0,10.0,23.0,4.0,1.0,3.0,211.0,133.0,78.0,16.0,13.0,3.0,91.0,17.0,74.0,569.0,519.0,0.0211571,89631769.0,A,rs1430961,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T20:02Z,rs57256643,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89657360C>A,17.12349,4,True,CA101489525,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.899, 'alspac': 0.785, 'dbgap_popfreq': 0.779, 'estonian': 0.741, 'genome_dk': 0.725, 'gnomad': 0.838, 'gonl': 0.803, 'korea1k': 0.999, 'korean': 0.999, 'northernsweden': 0.813, 'qatari': 0.824, 'sgdp_prj': 0.448, 'siberian': 0.5, 'tommo': 1.0, 'topmed': 0.843, 'twinsuk': 0.777}}, {'allele': 'A', 'freq': {'1000g': 0.101, 'alspac': 0.215, 'dbgap_popfreq': 0.221, 'estonian': 0.259, 'genome_dk': 0.275, 'gnomad': 0.162, 'gonl': 0.197, 'korea1k': 0.001, 'korean': 0.001, 'northernsweden': 0.187, 'qatari': 0.176, 'sgdp_prj': 0.552, 'siberian': 0.5, 'tommo': 0.0, 'topmed': 0.157, 'twinsuk': 0.223}}]",A,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}]",+,LOC105377329,89657360.0,89657360.0,C,rs72657707,snv,89657360.0,89657360.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89657360C>A,,,,MODIFIER,,,,A,89657360,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,24605.0,2412.0,1307.0,1105.0,206.0,110.0,96.0,2381.0,1004.0,1377.0,841.0,451.0,390.0,9.0,6.0,3.0,1704.0,412.0,1292.0,63.0,29.0,34.0,15748.0,9125.0,6623.0,406.0,183.0,223.0,835.0,193.0,642.0,12820.0,11785.0,0.162095,0.0584019,0.0592046,0.0574802,0.225877,0.234043,0.217195,0.156542,0.148301,0.163152,0.242503,0.241953,0.243142,0.00173544,0.00262927,0.00103306,0.161455,0.160436,0.161783,0.199367,0.176829,0.223684,0.231793,0.232117,0.231347,0.194631,0.178016,0.210775,0.173165,0.166093,0.17541,0.165002,0.159046,A,A,151794.0,41300.0,22076.0,19224.0,912.0,470.0,442.0,15210.0,6770.0,8440.0,3468.0,1864.0,1604.0,5186.0,2282.0,2904.0,10554.0,2568.0,7986.0,316.0,164.0,152.0,67940.0,39312.0,28628.0,2086.0,1028.0,1058.0,4822.0,1162.0,3660.0,77696.0,74098.0,1.92865e-15,59.9976,-0.018,1.0,16.0688,0.306,0.680304,22.1813,4,2479.0,73.0,36.0,37.0,21.0,13.0,8.0,185.0,85.0,100.0,100.0,58.0,42.0,0.0,0.0,0.0,154.0,39.0,115.0,10.0,5.0,5.0,1828.0,1076.0,752.0,36.0,17.0,19.0,72.0,16.0,56.0,1345.0,1134.0,0.0472397,89657360.0,C,rs72657707,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89689176C>T,17.123468,4,True,CA101493277,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.995, 'alspac': 0.974, 'dbgap_popfreq': 0.981, 'estonian': 0.978, 'genome_dk': 0.975, 'gnomad': 0.985, 'gonl': 0.967, 'northernsweden': 0.985, 'qatari': 0.991, 'sgdp_prj': 0.5, 'topmed': 0.988, 'twinsuk': 0.978}}, {'allele': 'T', 'freq': {'1000g': 0.005, 'alspac': 0.026, 'dbgap_popfreq': 0.019, 'estonian': 0.022, 'genome_dk': 0.025, 'gnomad': 0.015, 'gonl': 0.033, 'northernsweden': 0.015, 'qatari': 0.009, 'sgdp_prj': 0.5, 'topmed': 0.012, 'twinsuk': 0.022}}]",T,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105377329,89689176.0,89689176.0,C,rs114088559,snv,89689176.0,89689176.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89689176C>T,,,,MODIFIER,,,,T,89689176,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,2141.0,178.0,100.0,78.0,34.0,15.0,19.0,73.0,41.0,32.0,4.0,2.0,2.0,0.0,0.0,0.0,261.0,57.0,204.0,3.0,1.0,2.0,1548.0,901.0,647.0,21.0,10.0,11.0,19.0,4.0,15.0,1131.0,1010.0,0.0140713,0.00429578,0.00451508,0.00404397,0.0373626,0.0319149,0.0431818,0.00477874,0.00604898,0.00376559,0.00115207,0.00107066,0.00124688,0.0,0.0,0.0,0.0246319,0.0221617,0.0254237,0.00949367,0.00609756,0.0131579,0.022752,0.0228901,0.0225624,0.0100287,0.00967118,0.0103774,0.00394027,0.00344234,0.00409836,0.0145306,0.0135902,T,T,152154.0,41436.0,22148.0,19288.0,910.0,470.0,440.0,15276.0,6778.0,8498.0,3472.0,1868.0,1604.0,5194.0,2278.0,2916.0,10596.0,2572.0,8024.0,316.0,164.0,152.0,68038.0,39362.0,28676.0,2094.0,1034.0,1060.0,4822.0,1162.0,3660.0,77836.0,74318.0,0.0,59.9971,-0.03,1.0,14.0351,0.356,0.688038,22.2289,4,33.0,1.0,0.0,1.0,3.0,0.0,3.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,5.0,0.0,5.0,0.0,0.0,0.0,24.0,20.0,4.0,0.0,0.0,0.0,0.0,0.0,0.0,20.0,13.0,0.016921,89689176.0,C,rs114088559,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89715268G>A,17.123945,4,True,CA16192183,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.577, 'alspac': 0.887, 'dbgap_popfreq': 0.809, 'estonian': 0.919, 'genome_dk': 0.95, 'gnomad': 0.726, 'gonl': 0.881, 'korean': 0.421, 'northernsweden': 0.898, 'qatari': 0.648, 'sgdp_prj': 0.29, 'siberian': 0.455, 'tommo': 0.357, 'topmed': 0.7, 'twinsuk': 0.899}}, {'allele': 'A', 'freq': {'1000g': 0.423, 'alspac': 0.113, 'dbgap_popfreq': 0.191, 'estonian': 0.081, 'genome_dk': 0.05, 'gnomad': 0.274, 'gonl': 0.119, 'korean': 0.579, 'northernsweden': 0.102, 'qatari': 0.352, 'sgdp_prj': 0.71, 'siberian': 0.545, 'tommo': 0.643, 'topmed': 0.3, 'twinsuk': 0.101}}]",A,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105377329,89715268.0,89715268.0,G,rs3933594,snv,89715268.0,89715268.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89715268G>A,,,,MODIFIER,,,,A,89715268,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,41745.0,22909.0,12125.0,10784.0,76.0,33.0,43.0,4074.0,1968.0,2106.0,642.0,351.0,291.0,3051.0,1354.0,1697.0,1732.0,431.0,1301.0,96.0,49.0,47.0,7071.0,4078.0,2993.0,553.0,286.0,267.0,1541.0,389.0,1152.0,21064.0,20681.0,0.275657,0.557234,0.551989,0.563251,0.0837004,0.0708155,0.0972851,0.268203,0.291469,0.249585,0.185549,0.18871,0.181875,0.595898,0.601778,0.591289,0.164607,0.167966,0.163524,0.303797,0.29878,0.309211,0.104077,0.10374,0.104541,0.265865,0.27821,0.253802,0.321712,0.335924,0.317181,0.271723,0.279783,A,A,151438.0,41112.0,21966.0,19146.0,908.0,466.0,442.0,15190.0,6752.0,8438.0,3460.0,1860.0,1600.0,5120.0,2250.0,2870.0,10522.0,2566.0,7956.0,316.0,164.0,152.0,67940.0,39310.0,28630.0,2080.0,1028.0,1052.0,4790.0,1158.0,3632.0,77520.0,73918.0,1.15429,59.5299,0.385,1.0,19.2143,0.139,0.609712,1.115,4,8909.0,6425.0,3335.0,3090.0,3.0,0.0,3.0,617.0,324.0,293.0,58.0,35.0,23.0,896.0,402.0,494.0,158.0,44.0,114.0,17.0,8.0,9.0,394.0,232.0,162.0,83.0,47.0,36.0,258.0,68.0,190.0,4495.0,4414.0,0.208412,89715268.0,G,rs3933594,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89715268G>C,17.123564,4,True,CA101496231,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.577, 'alspac': 0.887, 'dbgap_popfreq': 0.809, 'estonian': 0.919, 'genome_dk': 0.95, 'gnomad': 0.726, 'gonl': 0.881, 'korean': 0.421, 'northernsweden': 0.898, 'qatari': 0.648, 'sgdp_prj': 0.29, 'siberian': 0.455, 'tommo': 0.357, 'topmed': 0.7, 'twinsuk': 0.899}}, {'allele': 'A', 'freq': {'1000g': 0.423, 'alspac': 0.113, 'dbgap_popfreq': 0.191, 'estonian': 0.081, 'genome_dk': 0.05, 'gnomad': 0.274, 'gonl': 0.119, 'korean': 0.579, 'northernsweden': 0.102, 'qatari': 0.352, 'sgdp_prj': 0.71, 'siberian': 0.545, 'tommo': 0.643, 'topmed': 0.3, 'twinsuk': 0.101}}]",C,4,155.0,105377329.0,False,uncharacterized LOC105377329,"[{'refseq': 'XR_001741764.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_001741765.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001741766.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938982.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938983.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_938984.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938985.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938986.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938987.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_938989.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC105377329,89715268.0,89715268.0,G,rs3933594,snv,89715268.0,89715268.0,http://bit.ly/2suyRKt,,,,,intergenic_region,GPRIN3-SNCA,intergenic_region,GPRIN3-SNCA,GPRIN3-SNCA,n.89715268G>C,,,,MODIFIER,,,,C,89715268,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr4:g.89776006T>C,17.12361,4,True,CA11864982,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.779, 'alspac': 0.785, 'dbgap_popfreq': 0.782, 'estonian': 0.797, 'genome_dk': 0.85, 'gnomad': 0.783, 'gonl': 0.813, 'korea1k': 0.913, 'korean': 0.901, 'northernsweden': 0.853, 'qatari': 0.801, 'sgdp_prj': 0.385, 'siberian': 0.438, 'tommo': 0.928, 'topmed': 0.781, 'twinsuk': 0.778, 'vietnamese': 0.771}}, {'allele': 'C', 'freq': {'1000g': 0.221, 'alspac': 0.215, 'dbgap_popfreq': 0.218, 'estonian': 0.203, 'genome_dk': 0.15, 'gnomad': 0.217, 'gonl': 0.187, 'korea1k': 0.087, 'korean': 0.099, 'northernsweden': 0.147, 'qatari': 0.199, 'sgdp_prj': 0.615, 'siberian': 0.562, 'tommo': 0.072, 'topmed': 0.219, 'twinsuk': 0.222, 'vietnamese': 0.229}}]",C,4,155.0,6622.0,False,synuclein alpha,"[{'hgvs': 'NM_000345.4:c.306+46240=', 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{'protein_product': {'refseq': 'XP_011530506.1'}, 'refseq': 'XM_011532204.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_011530507.1'}, 'refseq': 'XM_011532205.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_011530508.1'}, 'refseq': 'XM_011532206.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_011530509.1'}, 'refseq': 'XM_011532207.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_017008563.1:c.306+46240=', 'protein_product': {'refseq': 'XP_016864052.1'}, 'refseq': 'XM_017008563.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,SNCA,89776006.0,89776006.0,T,rs356162,snv,89776006.0,89776006.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,89776006,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,33322.0,9008.0,4773.0,4235.0,164.0,85.0,79.0,4101.0,1749.0,2352.0,986.0,519.0,467.0,787.0,328.0,459.0,1970.0,484.0,1486.0,85.0,44.0,41.0,14236.0,8216.0,6020.0,470.0,237.0,233.0,1515.0,378.0,1137.0,16813.0,16509.0,0.219325,0.217816,0.216012,0.219886,0.18022,0.181624,0.178733,0.269024,0.257965,0.277883,0.284314,0.277837,0.291875,0.152283,0.144366,0.158494,0.18613,0.188034,0.185518,0.268987,0.268293,0.269737,0.209427,0.208899,0.210152,0.224665,0.229207,0.220227,0.314576,0.326425,0.310826,0.216261,0.222535,C,C,151930.0,41356.0,22096.0,19260.0,910.0,468.0,442.0,15244.0,6780.0,8464.0,3468.0,1868.0,1600.0,5168.0,2272.0,2896.0,10584.0,2574.0,8010.0,316.0,164.0,152.0,67976.0,39330.0,28646.0,2092.0,1034.0,1058.0,4816.0,1158.0,3658.0,77744.0,74186.0,0.0,59.9967,-0.008,1.0,16.1526,0.373,0.69209,22.3349,4,3801.0,983.0,526.0,457.0,15.0,8.0,7.0,581.0,230.0,351.0,151.0,77.0,74.0,73.0,26.0,47.0,181.0,44.0,137.0,12.0,5.0,7.0,1499.0,875.0,624.0,63.0,31.0,32.0,243.0,62.0,181.0,1884.0,1917.0,0.0117276,89776006.0,T,rs356162,snp,15637659,"[{'effect': 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'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-10-8T01:17Z,rs17796248,123.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr6:g.32417676G>A,17.123442,6,True,CA15455652,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.633, 'alspac': 0.62, 'daghestan': 0.429, 'dbgap_popfreq': 0.619, 'estonian': 0.608, 'genome_dk': 0.625, 'gnomad': 0.656, 'gonl': 0.622, 'hapmap': 0.682, 'korean': 0.563, 'northernsweden': 0.595, 'page_study': 0.658, 'qatari': 0.435, 'sgdp_prj': 0.309, 'siberian': 0.316, 'tommo': 0.623, 'topmed': 0.643, 'twinsuk': 0.619, 'vietnamese': 0.523}}, {'allele': 'A', 'freq': {'1000g': 0.367, 'alspac': 0.38, 'daghestan': 0.571, 'dbgap_popfreq': 0.381, 'estonian': 0.392, 'genome_dk': 0.375, 'gnomad': 0.344, 'gonl': 0.378, 'hapmap': 0.318, 'korean': 0.437, 'northernsweden': 0.405, 'page_study': 0.342, 'qatari': 0.565, 'sgdp_prj': 0.691, 'siberian': 0.684, 'tommo': 0.377, 'topmed': 0.357, 'twinsuk': 0.381, 'vietnamese': 0.477}}]",A,6,155.0,,,,,,,32417676.0,32417676.0,G,rs9268544,snv,32417676.0,32417676.0,http://bit.ly/2suyRKt,,,,,intergenic_region,LOC101929163-HLA-DRA.3,intergenic_region,LOC101929163-HLA-DRA.3,LOC101929163-HLA-DRA,n.32417676G>A,,,,MODIFIER,,,,A,32417676,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,53705.0,9791.0,5268.0,4523.0,317.0,162.0,155.0,6579.0,2888.0,3691.0,1863.0,981.0,882.0,2459.0,1074.0,1385.0,3267.0,810.0,2457.0,187.0,105.0,82.0,26058.0,14981.0,11077.0,766.0,364.0,402.0,2418.0,593.0,1825.0,27226.0,26479.0,0.353378,0.236772,0.238371,0.234937,0.347588,0.344681,0.350679,0.431071,0.425708,0.435362,0.537197,0.526288,0.549875,0.474344,0.472296,0.475945,0.309199,0.31493,0.307356,0.591772,0.640244,0.539474,0.383206,0.380789,0.386524,0.36721,0.352713,0.381404,0.500621,0.508576,0.49809,0.350093,0.356821,A,A,151976.0,41352.0,22100.0,19252.0,912.0,470.0,442.0,15262.0,6784.0,8478.0,3468.0,1864.0,1604.0,5184.0,2274.0,2910.0,10566.0,2572.0,7994.0,316.0,164.0,152.0,68000.0,39342.0,28658.0,2086.0,1032.0,1054.0,4830.0,1166.0,3664.0,77768.0,74208.0,2.41082e-15,59.997,-0.033,1.0,18.5786,0.346,0.705247,22.8743,6,10129.0,1162.0,613.0,549.0,51.0,28.0,23.0,1426.0,625.0,801.0,525.0,273.0,252.0,591.0,256.0,335.0,542.0,136.0,406.0,58.0,35.0,23.0,4993.0,2821.0,2172.0,154.0,75.0,79.0,627.0,152.0,475.0,5014.0,5115.0,0.0371672,32417676.0,G,rs9268544,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-25T14:47Z', 'rsid': 'rs59563240', 'rv': 130}, {'date': '2011-09-17T04:07Z', 'rsid': 'rs112845620', 'rv': 135}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs114252210', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117395865', 'rv': 132}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr6:g.32714360A>G,17.12369,6,True,CA137047544,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.906, 'alspac': 0.901, 'daghestan': 0.91, 'dbgap_popfreq': 0.932, 'estonian': 0.922, 'genome_dk': 0.925, 'gnomad': 0.896, 'gonl': 0.891, 'hapmap': 0.91, 'hgdp_stanford': 0.875, 'korean': 0.887, 'northernsweden': 0.847, 'page_study': 0.874, 'prjeb36033': 0.862, 'qatari': 0.88, 'sgdp_prj': 0.443, 'siberian': 0.5, 'tommo': 0.897, 'topmed': 0.888, 'twinsuk': 0.888, 'vietnamese': 0.967}}, {'allele': 'G', 'freq': {'1000g': 0.094, 'alspac': 0.099, 'daghestan': 0.09, 'dbgap_popfreq': 0.068, 'estonian': 0.078, 'genome_dk': 0.075, 'gnomad': 0.104, 'gonl': 0.109, 'hapmap': 0.09, 'hgdp_stanford': 0.125, 'korean': 0.113, 'northernsweden': 0.153, 'page_study': 0.126, 'prjeb36033': 0.138, 'qatari': 0.12, 'sgdp_prj': 0.557, 'siberian': 0.5, 'tommo': 0.103, 'topmed': 0.112, 'twinsuk': 0.112, 'vietnamese': 0.033}}]",G,6,155.0,,,,,,,32714360.0,32714360.0,A,rs3957148,snv,32714360.0,32714360.0,http://bit.ly/2suyRKt,,,,,intergenic_region,HLA-DQB1-HLA-DQA2,intergenic_region,HLA-DQB1-HLA-DQA2,HLA-DQB1-HLA-DQA2,n.32714360A>G,,,,MODIFIER,,,,G,32714360,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,15752.0,3147.0,1696.0,1451.0,130.0,62.0,68.0,2837.0,1243.0,1594.0,585.0,306.0,279.0,396.0,178.0,218.0,1195.0,280.0,915.0,31.0,16.0,15.0,6889.0,3995.0,2894.0,207.0,98.0,109.0,335.0,84.0,251.0,7958.0,7794.0,0.103596,0.0760182,0.0766311,0.075314,0.143172,0.133047,0.153846,0.185765,0.183063,0.187927,0.168588,0.163987,0.17394,0.0762418,0.0782762,0.0746575,0.112949,0.109119,0.114175,0.0987261,0.097561,0.1,0.101291,0.10154,0.100949,0.0994236,0.0953307,0.103416,0.0694732,0.0721649,0.0686167,0.102296,0.104958,G,G,152052.0,41398.0,22132.0,19266.0,908.0,466.0,442.0,15272.0,6790.0,8482.0,3470.0,1866.0,1604.0,5194.0,2274.0,2920.0,10580.0,2566.0,8014.0,314.0,164.0,150.0,68012.0,39344.0,28668.0,2082.0,1028.0,1054.0,4822.0,1164.0,3658.0,77794.0,74258.0,9.64327e-16,59.9968,0.0,1.0,14.8653,0.283,0.695749,22.3437,6,950.0,121.0,63.0,58.0,13.0,7.0,6.0,296.0,134.0,162.0,57.0,30.0,27.0,18.0,6.0,12.0,68.0,14.0,54.0,3.0,2.0,1.0,348.0,209.0,139.0,9.0,6.0,3.0,17.0,6.0,11.0,477.0,473.0,0.0188239,32714360.0,A,rs3957148,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2003-08-27T10:43Z', 'rsid': 'rs3957218', 'rv': 117}, {'date': '2003-08-27T10:43Z', 'rsid': 'rs4527749', 'rv': 117}, {'date': '2008-05-25T06:11Z', 'rsid': 'rs58998095', 'rv': 130}, {'date': '2011-09-17T04:07Z', 'rsid': 'rs79346690', 'rv': 135}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs112412890', 'rv': 137}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs114916856', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117890490', 'rv': 132}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.32714360A>C,17.123344,6,True,CA137047540,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.906, 'alspac': 0.901, 'daghestan': 0.91, 'dbgap_popfreq': 0.932, 'estonian': 0.922, 'genome_dk': 0.925, 'gnomad': 0.896, 'gonl': 0.891, 'hapmap': 0.91, 'hgdp_stanford': 0.875, 'korean': 0.887, 'northernsweden': 0.847, 'page_study': 0.874, 'prjeb36033': 0.862, 'qatari': 0.88, 'sgdp_prj': 0.443, 'siberian': 0.5, 'tommo': 0.897, 'topmed': 0.888, 'twinsuk': 0.888, 'vietnamese': 0.967}}, {'allele': 'G', 'freq': {'1000g': 0.094, 'alspac': 0.099, 'daghestan': 0.09, 'dbgap_popfreq': 0.068, 'estonian': 0.078, 'genome_dk': 0.075, 'gnomad': 0.104, 'gonl': 0.109, 'hapmap': 0.09, 'hgdp_stanford': 0.125, 'korean': 0.113, 'northernsweden': 0.153, 'page_study': 0.126, 'prjeb36033': 0.138, 'qatari': 0.12, 'sgdp_prj': 0.557, 'siberian': 0.5, 'tommo': 0.103, 'topmed': 0.112, 'twinsuk': 0.112, 'vietnamese': 0.033}}]",C,6,155.0,,,,,,,32714360.0,32714360.0,A,rs3957148,snv,32714360.0,32714360.0,http://bit.ly/2suyRKt,,,,,intergenic_region,HLA-DQB1-HLA-DQA2,intergenic_region,HLA-DQB1-HLA-DQA2,HLA-DQB1-HLA-DQA2,n.32714360A>C,,,,MODIFIER,,,,C,32714360,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2003-08-27T10:43Z', 'rsid': 'rs3957218', 'rv': 117}, {'date': '2003-08-27T10:43Z', 'rsid': 'rs4527749', 'rv': 117}, {'date': '2008-05-25T06:11Z', 'rsid': 'rs58998095', 'rv': 130}, {'date': '2011-09-17T04:07Z', 'rsid': 'rs79346690', 'rv': 135}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs112412890', 'rv': 137}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs114916856', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117890490', 'rv': 132}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.32716480A>G,17.123598,6,True,CA137048732,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.857, 'alspac': 0.893, 'daghestan': 0.902, 'dbgap_popfreq': 0.886, 'estonian': 0.913, 'genome_dk': 0.825, 'gnomad': 0.867, 'gonl': 0.848, 'hapmap': 0.854, 'hgdp_stanford': 0.862, 'korean': 0.785, 'northernsweden': 0.862, 'page_study': 0.845, 'prjeb36033': 0.848, 'prjeb37584': 0.883, 'qatari': 0.861, 'sgdp_prj': 0.447, 'siberian': 0.5, 'tommo': 0.77, 'topmed': 0.866, 'twinsuk': 0.879, 'vietnamese': 0.896}}, {'allele': 'G', 'freq': {'1000g': 0.143, 'alspac': 0.107, 'daghestan': 0.098, 'dbgap_popfreq': 0.114, 'estonian': 0.087, 'genome_dk': 0.175, 'gnomad': 0.133, 'gonl': 0.152, 'hapmap': 0.146, 'hgdp_stanford': 0.138, 'korean': 0.215, 'northernsweden': 0.138, 'page_study': 0.155, 'prjeb36033': 0.152, 'prjeb37584': 0.117, 'qatari': 0.139, 'sgdp_prj': 0.553, 'siberian': 0.5, 'tommo': 0.23, 'topmed': 0.134, 'twinsuk': 0.121, 'vietnamese': 0.104}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",G,6,155.0,102725019.0,False,uncharacterized LOC102725019,"[{'refseq': 'XR_001743875.2', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}]",+,LOC102725019,32716480.0,32716480.0,A,rs9275614,snv,32716480.0,32716480.0,http://bit.ly/2suyRKt,,,,,intergenic_region,HLA-DQB1-HLA-DQA2,intergenic_region,HLA-DQB1-HLA-DQA2,HLA-DQB1-HLA-DQA2,n.32716480A>G,,,,MODIFIER,,,,G,32716480,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,19911.0,6708.0,3568.0,3140.0,100.0,49.0,51.0,1875.0,870.0,1005.0,495.0,262.0,233.0,961.0,445.0,516.0,1467.0,341.0,1126.0,32.0,20.0,12.0,7678.0,4437.0,3241.0,229.0,111.0,118.0,366.0,84.0,282.0,10187.0,9724.0,0.130971,0.162201,0.161419,0.1631,0.109649,0.104255,0.115385,0.122758,0.128205,0.118402,0.142734,0.140407,0.145443,0.185521,0.195518,0.177686,0.138396,0.132582,0.140259,0.101266,0.121951,0.0789474,0.112892,0.11278,0.113045,0.109779,0.107767,0.111742,0.0759021,0.0724138,0.0770071,0.130989,0.130952,G,G,152026.0,41356.0,22104.0,19252.0,912.0,470.0,442.0,15274.0,6786.0,8488.0,3468.0,1866.0,1602.0,5180.0,2276.0,2904.0,10600.0,2572.0,8028.0,316.0,164.0,152.0,68012.0,39342.0,28670.0,2086.0,1030.0,1056.0,4822.0,1160.0,3662.0,77770.0,74256.0,1.44649e-15,59.9965,-0.02,1.0,14.865,0.338,0.70927,22.7564,6,1375.0,567.0,291.0,276.0,8.0,4.0,4.0,121.0,70.0,51.0,42.0,24.0,18.0,88.0,42.0,46.0,93.0,25.0,68.0,2.0,1.0,1.0,429.0,251.0,178.0,8.0,4.0,4.0,17.0,5.0,12.0,717.0,658.0,0.00889707,32716480.0,A,rs9275614,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T04:49Z', 'rsid': 'rs17615334', 'rv': 123}, {'date': '2008-05-24T02:26Z', 'rsid': 'rs57533584', 'rv': 130}, {'date': '2011-09-17T04:07Z', 'rsid': 'rs113953504', 'rv': 135}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs116714509', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117734258', 'rv': 132}]",,,,,,,,,,"[{'accession': 'SO:0001636', 'name': '2KB_upstream_variant'}]",,,,,,,,,,,,,,,,,,,,,
+chr6:g.32716480A>T,17.123459,6,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.857, 'alspac': 0.893, 'daghestan': 0.902, 'dbgap_popfreq': 0.886, 'estonian': 0.913, 'genome_dk': 0.825, 'gnomad': 0.867, 'gonl': 0.848, 'hapmap': 0.854, 'hgdp_stanford': 0.862, 'korean': 0.785, 'northernsweden': 0.862, 'page_study': 0.845, 'prjeb36033': 0.848, 'prjeb37584': 0.883, 'qatari': 0.861, 'sgdp_prj': 0.447, 'siberian': 0.5, 'tommo': 0.77, 'topmed': 0.866, 'twinsuk': 0.879, 'vietnamese': 0.896}}, {'allele': 'G', 'freq': {'1000g': 0.143, 'alspac': 0.107, 'daghestan': 0.098, 'dbgap_popfreq': 0.114, 'estonian': 0.087, 'genome_dk': 0.175, 'gnomad': 0.133, 'gonl': 0.152, 'hapmap': 0.146, 'hgdp_stanford': 0.138, 'korean': 0.215, 'northernsweden': 0.138, 'page_study': 0.155, 'prjeb36033': 0.152, 'prjeb37584': 0.117, 'qatari': 0.139, 'sgdp_prj': 0.553, 'siberian': 0.5, 'tommo': 0.23, 'topmed': 0.134, 'twinsuk': 0.121, 'vietnamese': 0.104}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",T,6,155.0,102725019.0,False,uncharacterized LOC102725019,"[{'refseq': 'XR_001743875.2', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}]",+,LOC102725019,32716480.0,32716480.0,A,rs9275614,snv,32716480.0,32716480.0,http://bit.ly/2suyRKt,,,,,intergenic_region,HLA-DQB1-HLA-DQA2,intergenic_region,HLA-DQB1-HLA-DQA2,HLA-DQB1-HLA-DQA2,n.32716480A>T,,,,MODIFIER,,,,T,32716480,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T04:49Z', 'rsid': 'rs17615334', 'rv': 123}, {'date': '2008-05-24T02:26Z', 'rsid': 'rs57533584', 'rv': 130}, {'date': '2011-09-17T04:07Z', 'rsid': 'rs113953504', 'rv': 135}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs116714509', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117734258', 'rv': 132}]",,,,,,,,,,"[{'accession': 'SO:0001636', 'name': '2KB_upstream_variant'}]",,,,,,,,,,,,,,,,,,,,,
+chr6:g.40783137A>T,17.123592,6,True,CA138040988,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.935, 'alspac': 0.987, 'dbgap_popfreq': 0.988, 'estonian': 0.994, 'gnomad': 0.987, 'gonl': 0.989, 'korea1k': 0.854, 'korean': 0.867, 'northernsweden': 0.997, 'qatari': 0.986, 'sgdp_prj': 0.449, 'tommo': 0.854, 'topmed': 0.984, 'twinsuk': 0.984, 'vietnamese': 0.87}}, {'allele': 'T', 'freq': {'1000g': 0.065, 'alspac': 0.013, 'dbgap_popfreq': 0.012, 'estonian': 0.006, 'gnomad': 0.013, 'gonl': 0.011, 'korea1k': 0.146, 'korean': 0.133, 'northernsweden': 0.003, 'qatari': 0.014, 'sgdp_prj': 0.551, 'tommo': 0.146, 'topmed': 0.016, 'twinsuk': 0.016, 'vietnamese': 0.13}}]",T,6,155.0,,,,,,,40783137.0,40783137.0,A,rs79485747,snv,40783137.0,40783137.0,http://bit.ly/2suyRKt,,,,,intergenic_region,LRFN2-LOC101929555,intergenic_region,LRFN2-LOC101929555,LRFN2-LOC101929555,n.40783137A>T,,,,MODIFIER,,,,T,40783137,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,2810.0,104.0,57.0,47.0,38.0,18.0,20.0,286.0,126.0,160.0,55.0,30.0,25.0,739.0,343.0,396.0,84.0,8.0,76.0,7.0,3.0,4.0,835.0,476.0,359.0,35.0,23.0,12.0,627.0,159.0,468.0,1243.0,1567.0,0.0184616,0.00250965,0.00257383,0.00243599,0.0416667,0.0382979,0.0452489,0.0187197,0.0185622,0.0188457,0.015841,0.01606,0.015586,0.142115,0.150307,0.135709,0.0079096,0.003108,0.00944569,0.0221519,0.0182927,0.0263158,0.0122715,0.0120929,0.0125166,0.0167304,0.0222437,0.0113422,0.129706,0.136364,0.12759,0.0159658,0.0210749,T,T,152208.0,41440.0,22146.0,19294.0,912.0,470.0,442.0,15278.0,6788.0,8490.0,3472.0,1868.0,1604.0,5200.0,2282.0,2918.0,10620.0,2574.0,8046.0,316.0,164.0,152.0,68044.0,39362.0,28682.0,2092.0,1034.0,1058.0,4834.0,1166.0,3668.0,77854.0,74354.0,0.0,59.9968,-0.022,1.0,14.6301,0.32,0.683751,22.3217,6,119.0,0.0,0.0,0.0,0.0,0.0,0.0,9.0,6.0,3.0,0.0,0.0,0.0,56.0,28.0,28.0,0.0,0.0,0.0,0.0,0.0,0.0,4.0,2.0,2.0,0.0,0.0,0.0,50.0,16.0,34.0,52.0,67.0,0.0679916,40783137.0,A,rs79485747,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.40897501T>C,17.123388,6,True,CA138109783,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.999, 'alspac': 0.997, 'dbgap_popfreq': 0.998, 'estonian': 0.999, 'gnomad': 0.998, 'gonl': 0.999, 'northernsweden': 0.998, 'sgdp_prj': 0.5, 'topmed': 0.998, 'twinsuk': 0.995}}, {'allele': 'C', 'freq': {'1000g': 0.001, 'alspac': 0.003, 'dbgap_popfreq': 0.002, 'estonian': 0.001, 'gnomad': 0.002, 'gonl': 0.001, 'northernsweden': 0.002, 'sgdp_prj': 0.5, 'topmed': 0.002, 'twinsuk': 0.005}}]",C,6,155.0,101929555.0,False,uncharacterized LOC101929555,"[{'refseq': 'NR_110873.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,LOC101929555,40897501.0,40897501.0,T,rs143202663,snv,40897501.0,40897501.0,http://bit.ly/2suyRKt,,,,,intron_variant,NR_110873.1,transcript,LOC101929555,LOC101929555,n.233+5100A>G,,,,MODIFIER,2,5,pseudogene,C,40897501,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,299.0,12.0,6.0,6.0,0.0,0.0,0.0,69.0,19.0,50.0,39.0,20.0,19.0,0.0,0.0,0.0,9.0,3.0,6.0,1.0,1.0,0.0,145.0,74.0,71.0,6.0,3.0,3.0,18.0,4.0,14.0,130.0,169.0,0.00196499,0.000289631,0.000270978,0.000311042,0.0,0.0,0.0,0.00451452,0.00279988,0.00588374,0.0112457,0.0107181,0.0118602,0.0,0.0,0.0,0.000847298,0.00116732,0.000745156,0.00316456,0.00609756,0.0,0.00213135,0.00188056,0.00247542,0.00287081,0.00290698,0.00283554,0.00373444,0.00343643,0.00382932,0.00167048,0.00227328,C,C,152164.0,41432.0,22142.0,19290.0,910.0,468.0,442.0,15284.0,6786.0,8498.0,3468.0,1866.0,1602.0,5190.0,2280.0,2910.0,10622.0,2570.0,8052.0,316.0,164.0,152.0,68032.0,39350.0,28682.0,2090.0,1032.0,1058.0,4820.0,1164.0,3656.0,77822.0,74342.0,0.0,59.9968,-0.132,1.0,13.8172,0.378,0.714243,18.9797,6,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-0.00196731,40897501.0,T,rs143202663,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.41161469C>A,17.123573,6,True,CA364059068,http://bit.ly/2VLnQBz,L,"[0, 0, 0]","[2, 2, 2]","[62, 62, 62]",R,"['CGT', 'CGT', 'CGT']",,,A,"['C', 'C']","['alternative2', 'principal3', 'alternative2']",T,0.36284,-0.100843,T,0.35414,-0.38263,0.59122,688.0,16.82,0.24558,1.668963,6,T,0.30098,0.431017398834229,0.43454,0.9859733241494596,"['C', 'C']",T,0.41541,0.105178,1.126373,-0.525740505507162,0.21249,1.026149,-0.613382533150599,0.19149,"['ENSG00000095970', 'ENSG00000095970', 'ENSG00000095970']","['ENSP00000362214', 'ENSP00000362205', 'ENSP00000342651']","['ENST00000373122', 'ENST00000373113', 'ENST00000338469']",0.61326,"['T', 'T', 'T']","[0.1, 0.1, 0.1]",AEFDBI,N,0.07855,0.02995,N,0.21438,0.107637,"['Y', 'Y', 'Y']","['TREM2', 'TREM2', 'TREM2']",0.36777,0.998334242126518,5.51,-0.214,0.12513,0.0,0.45803,0.59043,0.0,0.23631,0.573888,41237185.0,41237185.0,41129207.0,41129207.0,41161469.0,41161469.0,c.185G>T,"['p.R62L', 'p.Arg62Leu']",0.0,0.26826,0.564101,0.0,0.14033,0.487112,"['T', 'T', 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-1.5]",C,10.0,0.4638,0.185,rs143332484,0.20381,"['T', 'T', 'T']","[0.2, 0.36, 0.941]",0.48336,"['D', 'T', 'T']","[0.049, 0.075, 0.051]",0.08992,3.9825,0.0,0.2756,0.3533,0.3711,"[1, 1, 1]",,,,,"[{'acc': 'Q9NZC2-3', 'entry': 'TREM2_HUMAN'}, {'acc': 'Q9NZC2', 'entry': 'TREM2_HUMAN'}, {'acc': 'Q9NZC2-2', 'entry': 'TREM2_HUMAN'}]",YES,0.45237,"[0.412, 0.39, 0.389]","['C', 'C']",http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.995, 'alspac': 0.989, 'dbgap_popfreq': 0.99, 'estonian': 0.981, 'exac': 0.992, 'finrisk': 0.997, 'genome_dk': 0.975, 'gnomad': 0.993, 'gnomad_exomes': 0.992, 'goesp': 0.992, 'gonl': 0.991, 'mgp': 0.989, 'northernsweden': 0.973, 'page_study': 0.995, 'qatari': 0.995, 'sgdp_prj': 0.5, 'topmed': 0.993, 'twinsuk': 0.993}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'topmed': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.005, 'alspac': 0.011, 'dbgap_popfreq': 0.01, 'estonian': 0.019, 'exac': 0.008, 'finrisk': 0.003, 'genome_dk': 0.025, 'gnomad': 0.007, 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'p.Arg62Leu', 'protein': {'length': '230', 'position': '62'}, 'putative_impact': 'MODERATE', 'rank': '2', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'cdna': {'length': '861', 'position': '289'}, 'cds': {'length': '660', 'position': '185'}, 'effect': 'missense_variant', 'feature_id': 'NM_001271821.1', 'feature_type': 'transcript', 'gene_id': 'TREM2', 'genename': 'TREM2', 'hgvs_c': 'c.185G>T', 'hgvs_p': 'p.Arg62Leu', 'protein': {'length': '219', 'position': '62'}, 'putative_impact': 'MODERATE', 'rank': '2', 'total': '4', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,C,,,,,,,,Immunoglobulin V-set domain,0.1646,0.595797,N,0.206924,0.29282,0.267385964474,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'geneid': 54209, 'is_pseudo': False, 'name': 'triggering receptor expressed on myeloid cells 2', 'rnas': [{'codon_aligned_transcript_change': {'deleted_sequence': 'CGT', 'inserted_sequence': 'CGT', 'position': 217, 'seq_id': 'NM_001271821.2'}, 'hgvs': 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[{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '+', 'symbol': 'LOC105375056'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.41161469C>T,16.02477,6,True,CA3798950,http://bit.ly/2VLnQBz,H,"[0, 0, 0]","[2, 2, 2]","[62, 62, 62]",R,"['CGT', 'CGT', 'CGT']",41.0,0.010638297872340425,T,"['C', 'C']","['alternative2', 'principal3', 'alternative2']",T,0.00125,-0.610942,T,0.09766,-0.638676,0.59122,688.0,9.763,0.13031,0.836622,6,T,0.00028,0.00268505545789441,0.30513,0.9663009520080752,"['C', 'C']",T,0.37549,0.085652,0.6304406,-0.817051420387538,0.12874,0.7444208,-0.809571932116101,0.14264,"['ENSG00000095970', 'ENSG00000095970', 'ENSG00000095970']","['ENSP00000362214', 'ENSP00000362205', 'ENSP00000342651']","['ENST00000373122', 'ENST00000373113', 'ENST00000338469']",0.64445,"['T', 'T', 'T']","[-0.11, -0.11, -0.11]",AEFDBI,N,0.04003,0.01086,N,0.06663,0.042716,"['Y', 'Y', 'Y']","['TREM2', 'TREM2', 'TREM2']",0.36777,0.998334242126518,5.51,-0.214,0.12513,0.0,0.45803,0.59043,0.0,0.23631,0.573888,41237185.0,41237185.0,41129207.0,41129207.0,41161469.0,41161469.0,c.185G>A,"['p.Arg62His', 'p.R62H']",0.0,0.26826,0.564101,0.0,0.14033,0.487112,"['T', 'T', 'T']",0.40874,"[0.776522, 0.776522, 0.776522]",,,,T,0.2075,0.0486,"['T', 'T', 'T']",0.0017,"[0.0074675083, 0.0074675083, 0.0074675083]",T,0.1275,-1.0561,"['N', 'N', 'N']",0.15665,"[0.61, 0.61, 0.61]","['R62H', 'R62H', 'R62H']",0.22865,"['simple_aae', 'simple_aae', 'simple_aae']","['N', 'N', 'N']","[0.996898, 0.996898, 0.996898]",,,,,,0.48696,"[0.490631539035, 0.490631539035, 0.490631539035]",0.15269,0.002,0.28723,0.487,0.29643,0.638,0.07848,-0.342,0.4025,0.599,0.45946,1.026,"['B', 'B', 'B']",0.2754,"[0.14, 0.016, 0.14]","['B', 'B', 'B']",0.25116,"[0.033, 0.008, 0.049]",T,0.02425,0.235804647207,0.11366,"['N', 'N', 'N']","[-0.13, 0.03, -0.27]",C,10.0,0.10465,0.039,rs143332484,0.1794,"['T', 'T', 'T']","[0.236, 0.387, 0.678]",0.17115,"['T', 'T', 'T']","[0.357, 0.498, 0.364]",0.08992,3.9825,0.0,0.2756,0.3533,0.3711,"[1, 1, 1]",26.0,0.007011866235167206,67.0,0.008860089923300713,"[{'acc': 'Q9NZC2-3', 'entry': 'TREM2_HUMAN'}, {'acc': 'Q9NZC2', 'entry': 'TREM2_HUMAN'}, {'acc': 'Q9NZC2-2', 'entry': 'TREM2_HUMAN'}]",YES,0.09772,"[0.111, 0.048, 0.063]","['C', 'C']",http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.995, 'alspac': 0.989, 'dbgap_popfreq': 0.99, 'estonian': 0.981, 'exac': 0.992, 'finrisk': 0.997, 'genome_dk': 0.975, 'gnomad': 0.993, 'gnomad_exomes': 0.992, 'goesp': 0.992, 'gonl': 0.991, 'mgp': 0.989, 'northernsweden': 0.973, 'page_study': 0.995, 'qatari': 0.995, 'sgdp_prj': 0.5, 'topmed': 0.993, 'twinsuk': 0.993}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'topmed': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.005, 'alspac': 0.011, 'dbgap_popfreq': 0.01, 'estonian': 0.019, 'exac': 0.008, 'finrisk': 0.003, 'genome_dk': 0.025, 'gnomad': 0.007, 'gnomad_exomes': 0.008, 'goesp': 0.008, 'gonl': 0.009, 'mgp': 0.011, 'northernsweden': 0.027, 'page_study': 0.005, 'qatari': 0.005, 'sgdp_prj': 0.5, 'topmed': 0.007, 'twinsuk': 0.007}}]",T,6,155.0,,,,,,,41161469.0,41161469.0,C,rs143332484,snv,41161469.0,41161469.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,41161469,C,1002.0,1002.0,0.008265,0.008253,22.0,0.002121,93.0,0.008039,0.0,0.0,52.0,0.007893,762.0,0.01143,64.0,0.003878,600.0,600.0,0.006621,0.006611,22.0,0.002125,93.0,0.008048,0.0,0.0,30.0,0.007891,384.0,0.009127,64.0,0.00388,http://bit.ly/2I1cl1I,1917.0,35.0,25.0,10.0,244.0,141.0,103.0,19.0,11.0,8.0,0.0,0.0,0.0,0.0,0.0,0.0,939.0,174.0,87.0,87.0,978.0,1275.0,29.0,1.0,611.0,664.0,417.0,348.0,75.0,405.0,59.0,33.0,26.0,111.0,31.0,80.0,0.00762961,0.00215385,0.00248361,0.00161708,0.00705529,0.00695815,0.00719274,0.00188754,0.00224673,0.00154739,0.0,0.0,0.0,0.0,0.0,0.0,0.0081324,0.00803992,0.00838635,0.00772098,0.00720209,0.0112258,0.0108614,0.00413223,0.0122034,0.010455,0.00990358,0.0112519,0.00652061,0.0154994,0.00962166,0.0112782,0.00810979,0.00362556,0.00410923,0.00346741,T,T,251258.0,16250.0,10066.0,6184.0,34584.0,20264.0,14320.0,10066.0,4896.0,5170.0,18390.0,9326.0,152.0,3816.0,9064.0,14422.0,115464.0,21642.0,10374.0,11268.0,135794.0,113578.0,2670.0,242.0,50068.0,63510.0,42106.0,30928.0,11502.0,26130.0,6132.0,2926.0,3206.0,30616.0,7544.0,23072.0,4.08,6,0.077,12575917.0,0.0,15.0,0.0,0.0,0.0,2.0,2.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,11.0,4.0,3.0,1.0,4.0,7.0,1.0,0.0,4.0,3.0,2.0,1.0,0.0,3.0,0.0,0.0,0.0,2.0,2.0,0.0,0.0099,59.6,0.198,1.0,41161469.0,14.11,0.627,C,0.939363,rs143332484,0.695,snp,6.31,FS,25.0,0.0049920127795527154,1.0,0.0007564296520423601,11.0,0.01585014409221902,0.0,0.0,11.0,0.010934393638170975,2.0,0.002044989775051125,12.0,0.0027235587834770767,89.0,0.010348837209302325,861.0,861.0,0.008112,0.008107,21.0,0.002318,86.0,0.007672,0.0,0.0,52.0,0.007893,632.0,0.01163,63.0,0.003841,http://bit.ly/2QAcvkh,4394.0,,12905.0,,8511.0,,T,88.0,C,6.0,693,-0.2,0.4,134.0,48.9+/-108.6,PASS,missense,NM_018965.2,TREM2,2191.0,,,6402.0,,,4211.0,,,29.0,41129207.0,41129207.0,41161469.0,41161469.0,c.185G>A,p.(R62H),0.2724,0.7766,1.0349,yes,b,e,C,C,rs143332484,http://bit.ly/2I1cl1I,1079.0,87.0,52.0,35.0,2.0,1.0,1.0,139.0,66.0,73.0,16.0,5.0,11.0,0.0,0.0,0.0,75.0,30.0,45.0,0.0,0.0,0.0,731.0,433.0,298.0,12.0,6.0,6.0,17.0,3.0,14.0,596.0,483.0,0.00708731,0.0020981,0.00234699,0.00181253,0.00219298,0.00212766,0.00226244,0.00909448,0.00971731,0.00859633,0.00460829,0.00267666,0.00685786,0.0,0.0,0.0,0.00705949,0.0116641,0.00558867,0.0,0.0,0.0,0.010743,0.0109988,0.010392,0.00573066,0.00580271,0.00566038,0.00351676,0.00257732,0.00381471,0.00765418,0.00649386,T,T,152244.0,41466.0,22156.0,19310.0,912.0,470.0,442.0,15284.0,6792.0,8492.0,3472.0,1868.0,1604.0,5198.0,2278.0,2920.0,10624.0,2572.0,8052.0,316.0,164.0,152.0,68044.0,39368.0,28676.0,2094.0,1034.0,1060.0,4834.0,1164.0,3670.0,77866.0,74378.0,3.37515e-15,59.9957,-0.009,1.0,13.7592,0.402,0.697667,21.8631,6,9.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,7.0,6.0,1.0,0.0,0.0,0.0,2.0,0.0,2.0,6.0,3.0,0.00966609,41161469.0,C,rs143332484,snp,,"[{'cdna': {'length': '1055', 'position': '289'}, 'cds': {'length': '693', 'position': '185'}, 'effect': 'missense_variant', 'feature_id': 'NM_018965.3', 'feature_type': 'transcript', 'gene_id': 'TREM2', 'genename': 'TREM2', 'hgvs_c': 'c.185G>A', 'hgvs_p': 'p.Arg62His', 'protein': {'length': '230', 'position': '62'}, 'putative_impact': 'MODERATE', 'rank': '2', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'cdna': {'length': '861', 'position': '289'}, 'cds': {'length': '660', 'position': '185'}, 'effect': 'missense_variant', 'feature_id': 'NM_001271821.1', 'feature_type': 'transcript', 'gene_id': 'TREM2', 'genename': 'TREM2', 'hgvs_c': 'c.185G>A', 'hgvs_p': 'p.Arg62His', 'protein': {'length': '219', 'position': '62'}, 'putative_impact': 'MODERATE', 'rank': '2', 'total': '4', 'transcript_biotype': 'protein_coding'}]",http://bit.ly/2SQdcI0,438917.0,T,6,6p21.1,54209,TREM2,41129207.0,41129207.0,41161469.0,41161469.0,"['LRG_631t1:c.185G>A', 'NM_001271821.2:c.185G>A', 'NM_018965.2:c.185G>A', 'NM_018965.4:c.185G>A']","['LRG_631:g.6716G>A', 'NC_000006.11:g.41129207C>T', 'NC_000006.12:g.41161469C>T', 'NG_011561.1:g.6716G>A']","['LRG_631p1:p.Arg62His', 'NP_001258750.1:p.Arg62His', 'NP_061838.1:p.Arg62His', 'NP_061838.1:p.Arg62His']",,,,,,,,,,,,C,rs143332484,single nucleotide variant,445645.0,C,Conflicting_interpretations_of_pathogenicity,445645,NC_000006.12:g.41161469C>T,"['C4721893', 'CN169374', 'CN517202']",,"criteria_provided,_conflicting_interpretations","['Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_1', 'not_specified', 'not_provided']",Immunoglobulin V-set domain,0.1646,0.595797,N,0.206924,0.21365,0.190490138876,,,,,,,,,,,,,"[{'accession': 'RCV000513870', 'clinical_significance': 'Conflicting interpretations of pathogenicity', 'conditions': {'identifiers': {'medgen': 'CN517202'}, 'name': 'not provided', 'synonyms': ['none provided']}, 'last_evaluated': '2021-12-02', 'number_submitters': 5, 'origin': 'germline', 'preferred_name': 'NM_018965.4(TREM2):c.185G>A (p.Arg62His)', 'review_status': 'criteria provided, conflicting interpretations'}, {'accession': 'RCV000591525', 'clinical_significance': 'Benign', 'conditions': {'identifiers': {'medgen': 'CN169374'}, 'name': 'not specified', 'synonyms': ['AllHighlyPenetrant']}, 'last_evaluated': '2017-01-25', 'number_submitters': 2, 'origin': 'germline', 'preferred_name': 'NM_018965.4(TREM2):c.185G>A (p.Arg62His)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV000625434', 'clinical_significance': 'Benign', 'conditions': {'identifiers': {'medgen': 'C4721893', 'mondo': 'MONDO:0020749', 'omim': '221770', 'orphanet': '2770'}, 'name': 'Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (PLOSL1)'}, 'last_evaluated': '2015-09-21', 'number_submitters': 2, 'origin': 'germline', 'preferred_name': 'NM_018965.4(TREM2):c.185G>A (p.Arg62His)', 'review_status': 'criteria provided, single submitter'}]",221770,,http://bit.ly/2RieoY1,Benign,01/25/2017,p.Arg62His | p.R62H,NM_018965.3:c.185G>A,Ex2,TREM2,"['LRG_631t1:c.185G>A', 'NM_001271821.1:c.185G>A', 'NM_018965.2:c.185G>A', 'NM_018965.3:c.185G>A', 'XM_005249185.1:c.275G>A']",58720.0,12.0,101.0,89.0,,,,0.0,,0.0,,0.0,,,,,,,,,,,"[{'geneid': 54209, 'is_pseudo': False, 'name': 'triggering receptor expressed on myeloid cells 2', 'rnas': [{'codon_aligned_transcript_change': {'deleted_sequence': 'CGT', 'inserted_sequence': 'CGT', 'position': 217, 'seq_id': 'NM_001271821.2'}, 'hgvs': 'NM_001271821.2:c.185=', 'protein': {'variant': {'spdi': {'deleted_sequence': 'R', 'inserted_sequence': 'R', 'position': 61, 'seq_id': 'NP_001258750.1'}}}, 'protein_product': {'refseq': 'NP_001258750.1'}, 'refseq': 'NM_001271821.2', 'so': [{'accession': 'SO:0001580', 'name': 'coding_sequence_variant'}]}, {'codon_aligned_transcript_change': {'deleted_sequence': 'CGT', 'inserted_sequence': 'CGT', 'position': 217, 'seq_id': 'NM_018965.4'}, 'hgvs': 'NM_018965.4:c.185=', 'protein': {'variant': {'spdi': {'deleted_sequence': 'R', 'inserted_sequence': 'R', 'position': 61, 'seq_id': 'NP_061838.1'}}}, 'protein_product': {'refseq': 'NP_061838.1'}, 'refseq': 'NM_018965.4', 'so': [{'accession': 'SO:0001580', 'name': 'coding_sequence_variant'}]}], 'strand': '-', 'symbol': 'TREM2'}, {'geneid': 105375056, 'is_pseudo': False, 'name': 'uncharacterized LOC105375056', 'rnas': [{'refseq': 'XR_926795.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_926797.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '+', 'symbol': 'LOC105375056'}]",,,,,,,,,19.1+/-41.9,,,12.0,101.0,89.0,,,,,,,,,,,,,,,,,,
+chr6:g.47416154A>G,17.123701,6,True,CA16263882,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.872, 'alspac': 0.787, 'dbgap_popfreq': 0.833, 'estonian': 0.813, 'genome_dk': 0.85, 'gnomad': 0.859, 'gonl': 0.787, 'hapmap': 0.855, 'korean': 0.878, 'northernsweden': 0.767, 'prjeb36033': 0.6, 'qatari': 0.977, 'sgdp_prj': 0.405, 'siberian': 0.5, 'tommo': 0.858, 'topmed': 0.861, 'twinsuk': 0.784, 'vietnamese': 0.819}}, {'allele': 'G', 'freq': {'1000g': 0.128, 'alspac': 0.213, 'dbgap_popfreq': 0.167, 'estonian': 0.187, 'genome_dk': 0.15, 'gnomad': 0.141, 'gonl': 0.213, 'hapmap': 0.145, 'korean': 0.122, 'northernsweden': 0.233, 'prjeb36033': 0.4, 'qatari': 0.023, 'sgdp_prj': 0.595, 'siberian': 0.5, 'tommo': 0.142, 'topmed': 0.139, 'twinsuk': 0.216, 'vietnamese': 0.181}}]",G,6,155.0,,,,,,,47416154.0,47416154.0,A,rs13207334,snv,47416154.0,47416154.0,http://bit.ly/2suyRKt,,,,,intergenic_region,TNFRSF21-CD2AP,intergenic_region,TNFRSF21-CD2AP,TNFRSF21-CD2AP,n.47416154A>G,,,,MODIFIER,,,,G,47416154,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,21737.0,1577.0,858.0,719.0,107.0,52.0,55.0,2219.0,972.0,1247.0,528.0,248.0,280.0,756.0,333.0,423.0,1420.0,364.0,1056.0,28.0,14.0,14.0,14007.0,8108.0,5899.0,314.0,157.0,157.0,781.0,208.0,573.0,11314.0,10423.0,0.142892,0.0380679,0.0387499,0.0372848,0.117325,0.110638,0.124434,0.14528,0.143194,0.146948,0.152074,0.132762,0.174564,0.145665,0.146438,0.145062,0.134089,0.141745,0.131638,0.0886076,0.0853659,0.0921053,0.205925,0.20608,0.205712,0.149952,0.151838,0.148113,0.161765,0.178388,0.156472,0.145391,0.140275,G,G,152122.0,41426.0,22142.0,19284.0,912.0,470.0,442.0,15274.0,6788.0,8486.0,3472.0,1868.0,1604.0,5190.0,2274.0,2916.0,10590.0,2568.0,8022.0,316.0,164.0,152.0,68020.0,39344.0,28676.0,2094.0,1034.0,1060.0,4828.0,1166.0,3662.0,77818.0,74304.0,0.0,59.9977,-0.015,1.0,15.0535,0.353,0.67708,22.6411,6,1983.0,38.0,21.0,17.0,6.0,1.0,5.0,174.0,73.0,101.0,36.0,12.0,24.0,55.0,23.0,32.0,95.0,28.0,67.0,2.0,1.0,1.0,1482.0,868.0,614.0,28.0,14.0,14.0,67.0,19.0,48.0,1060.0,923.0,0.0467947,47416154.0,A,rs13207334,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.47440244T>C,17.123331,6,True,CA12235729,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.699, 'alspac': 0.525, 'dbgap_popfreq': 0.59, 'estonian': 0.593, 'genome_dk': 0.525, 'gnomad': 0.613, 'gonl': 0.482, 'korea1k': 0.792, 'korean': 0.777, 'northernsweden': 0.552, 'qatari': 0.435, 'sgdp_prj': 0.376, 'siberian': 0.361, 'tommo': 0.805, 'topmed': 0.634, 'twinsuk': 0.525, 'vietnamese': 0.865}}, {'allele': 'C', 'freq': {'1000g': 0.301, 'alspac': 0.475, 'dbgap_popfreq': 0.41, 'estonian': 0.407, 'genome_dk': 0.475, 'gnomad': 0.387, 'gonl': 0.518, 'korea1k': 0.208, 'korean': 0.223, 'northernsweden': 0.448, 'qatari': 0.565, 'sgdp_prj': 0.624, 'siberian': 0.639, 'tommo': 0.195, 'topmed': 0.366, 'twinsuk': 0.475, 'vietnamese': 0.135}}]",C,6,155.0,,,,,,,47440244.0,47440244.0,T,rs9395259,snv,47440244.0,47440244.0,http://bit.ly/2suyRKt,,,,,intergenic_region,TNFRSF21-CD2AP,intergenic_region,TNFRSF21-CD2AP,TNFRSF21-CD2AP,n.47440244T>C,,,,MODIFIER,,,,C,47440244,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,58621.0,9677.0,5192.0,4485.0,541.0,277.0,264.0,4980.0,2199.0,2781.0,1730.0,970.0,760.0,910.0,429.0,481.0,5417.0,1308.0,4109.0,174.0,93.0,81.0,32375.0,18781.0,13594.0,864.0,408.0,456.0,1953.0,471.0,1482.0,30128.0,28493.0,0.386825,0.234696,0.235443,0.233837,0.59713,0.594421,0.6,0.327373,0.325778,0.328646,0.498847,0.520386,0.473815,0.176357,0.189153,0.166321,0.516594,0.513344,0.517637,0.550633,0.567073,0.532895,0.476987,0.478131,0.475414,0.416586,0.397661,0.435115,0.405523,0.404639,0.405805,0.388338,0.385238,C,C,151544.0,41232.0,22052.0,19180.0,906.0,466.0,440.0,15212.0,6750.0,8462.0,3468.0,1864.0,1604.0,5160.0,2268.0,2892.0,10486.0,2548.0,7938.0,316.0,164.0,152.0,67874.0,39280.0,28594.0,2074.0,1026.0,1048.0,4816.0,1164.0,3652.0,77582.0,73962.0,1.44649e-15,59.9111,0.0,1.0,18.7087,0.356,0.691604,7.1005,6,12417.0,1135.0,618.0,517.0,155.0,73.0,82.0,875.0,387.0,488.0,420.0,246.0,174.0,87.0,43.0,44.0,1397.0,346.0,1051.0,47.0,26.0,21.0,7693.0,4494.0,3199.0,199.0,93.0,106.0,409.0,87.0,322.0,6413.0,6004.0,0.0609346,47440244.0,T,rs9395259,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T18:48Z,rs57183216,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.47557466G>C,17.12373,6,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.767, 'alspac': 0.723, 'dbgap_popfreq': 0.859, 'estonian': 0.739, 'gnomad': 0.723, 'gonl': 0.726, 'korea1k': 0.897, 'korean': 0.898, 'northernsweden': 0.715, 'qatari': 0.856, 'sgdp_prj': 0.42, 'siberian': 0.5, 'tommo': 0.873, 'topmed': 0.723, 'twinsuk': 0.725}}, {'allele': 'A', 'freq': {'1000g': 0.233, 'alspac': 0.277, 'dbgap_popfreq': 0.141, 'estonian': 0.261, 'gnomad': 0.277, 'gonl': 0.274, 'korea1k': 0.103, 'korean': 0.102, 'northernsweden': 0.285, 'qatari': 0.144, 'sgdp_prj': 0.58, 'siberian': 0.5, 'tommo': 0.127, 'topmed': 0.277, 'twinsuk': 0.275}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",C,6,155.0,23607.0,False,CD2 associated protein,"[{'hgvs': 'NM_012120.3:c.541+2700=', 'protein_product': {'refseq': 'NP_036252.1'}, 'refseq': 'NM_012120.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248976.1:c.541+2700=', 'protein_product': {'refseq': 'XP_005249033.1'}, 'refseq': 'XM_005248976.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011514449.2:c.394+2700=', 'protein_product': {'refseq': 'XP_011512751.1'}, 'refseq': 'XM_011514449.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017010641.1:c.541+2700=', 'protein_product': {'refseq': 'XP_016866130.1'}, 'refseq': 'XM_017010641.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CD2AP,47557466.0,47557466.0,G,rs6931011,snv,47557466.0,47557466.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_012120.2,transcript,CD2AP,CD2AP,c.541+2700G>C,,,,MODIFIER,5,17,protein_coding,C,47557466,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T05:04Z', 'rsid': 'rs13212925', 'rv': 123}, {'date': '2006-10-16T13:14Z', 'rsid': 'rs35397598', 'rv': 127}, {'date': '2008-05-27T02:40Z', 'rsid': 'rs61444015', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs112215255', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr6:g.47557466G>A,17.123728,6,True,CA15456814,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.767, 'alspac': 0.723, 'dbgap_popfreq': 0.859, 'estonian': 0.739, 'gnomad': 0.723, 'gonl': 0.726, 'korea1k': 0.897, 'korean': 0.898, 'northernsweden': 0.715, 'qatari': 0.856, 'sgdp_prj': 0.42, 'siberian': 0.5, 'tommo': 0.873, 'topmed': 0.723, 'twinsuk': 0.725}}, {'allele': 'A', 'freq': {'1000g': 0.233, 'alspac': 0.277, 'dbgap_popfreq': 0.141, 'estonian': 0.261, 'gnomad': 0.277, 'gonl': 0.274, 'korea1k': 0.103, 'korean': 0.102, 'northernsweden': 0.285, 'qatari': 0.144, 'sgdp_prj': 0.58, 'siberian': 0.5, 'tommo': 0.127, 'topmed': 0.277, 'twinsuk': 0.275}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",A,6,155.0,23607.0,False,CD2 associated protein,"[{'hgvs': 'NM_012120.3:c.541+2700=', 'protein_product': {'refseq': 'NP_036252.1'}, 'refseq': 'NM_012120.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005248976.1:c.541+2700=', 'protein_product': {'refseq': 'XP_005249033.1'}, 'refseq': 'XM_005248976.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011514449.2:c.394+2700=', 'protein_product': {'refseq': 'XP_011512751.1'}, 'refseq': 'XM_011514449.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017010641.1:c.541+2700=', 'protein_product': {'refseq': 'XP_016866130.1'}, 'refseq': 'XM_017010641.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CD2AP,47557466.0,47557466.0,G,rs6931011,snv,47557466.0,47557466.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_012120.2,transcript,CD2AP,CD2AP,c.541+2700G>A,,,,MODIFIER,5,17,protein_coding,A,47557466,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,41129.0,13489.0,7221.0,6268.0,201.0,105.0,96.0,3583.0,1606.0,1977.0,908.0,468.0,440.0,719.0,317.0,402.0,2040.0,501.0,1539.0,66.0,28.0,38.0,18595.0,10686.0,7909.0,538.0,275.0,263.0,990.0,261.0,729.0,21468.0,19661.0,0.270778,0.326247,0.326949,0.325441,0.221366,0.224359,0.218182,0.235105,0.237013,0.233578,0.261822,0.250804,0.274657,0.138536,0.139279,0.137955,0.193036,0.196009,0.192087,0.208861,0.170732,0.25,0.273657,0.271812,0.276191,0.257663,0.265957,0.249526,0.205479,0.224227,0.199507,0.276279,0.265016,A,A,151892.0,41346.0,22086.0,19260.0,908.0,468.0,440.0,15240.0,6776.0,8464.0,3468.0,1866.0,1602.0,5190.0,2276.0,2914.0,10568.0,2556.0,8012.0,316.0,164.0,152.0,67950.0,39314.0,28636.0,2088.0,1034.0,1054.0,4818.0,1164.0,3654.0,77704.0,74188.0,4.82164e-16,57.7309,-0.465,1.0,16.9406,0.381,0.696031,-0.932,6,5749.0,2164.0,1158.0,1006.0,17.0,7.0,10.0,433.0,202.0,231.0,116.0,59.0,57.0,61.0,23.0,38.0,189.0,50.0,139.0,12.0,6.0,6.0,2580.0,1481.0,1099.0,80.0,40.0,40.0,97.0,23.0,74.0,3049.0,2700.0,0.0128163,47557466.0,G,rs6931011,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T05:04Z', 'rsid': 'rs13212925', 'rv': 123}, {'date': '2006-10-16T13:14Z', 'rsid': 'rs35397598', 'rv': 127}, {'date': '2008-05-27T02:40Z', 'rsid': 'rs61444015', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs112215255', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.23229446A>G,17.123383,7,True,CA12534216,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.559, 'alspac': 0.592, 'dbgap_popfreq': 0.566, 'estonian': 0.574, 'genome_dk': 0.5, 'gnomad': 0.516, 'gonl': 0.58, 'hapmap': 0.512, 'korea1k': 0.759, 'korean': 0.759, 'northernsweden': 0.632, 'prjeb36033': 0.5, 'qatari': 0.542, 'sgdp_prj': 0.329, 'siberian': 0.423, 'tommo': 0.687, 'topmed': 0.517, 'twinsuk': 0.586, 'vietnamese': 0.849}}, {'allele': 'G', 'freq': {'1000g': 0.441, 'alspac': 0.408, 'dbgap_popfreq': 0.434, 'estonian': 0.426, 'genome_dk': 0.5, 'gnomad': 0.484, 'gonl': 0.42, 'hapmap': 0.488, 'korea1k': 0.241, 'korean': 0.241, 'northernsweden': 0.368, 'prjeb36033': 0.5, 'qatari': 0.458, 'sgdp_prj': 0.671, 'siberian': 0.577, 'tommo': 0.313, 'topmed': 0.483, 'twinsuk': 0.414, 'vietnamese': 0.151}}]",G,7,155.0,101927890.0,False,uncharacterized LOC101927890,"[{'refseq': 'XR_242147.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_927097.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,LOC101927890,23229446.0,23229446.0,A,rs1637190,snv,23229446.0,23229446.0,http://bit.ly/2suyRKt,,,,,intergenic_region,NUPL2-GPNMB,intergenic_region,NUPL2-GPNMB,NUPL2-GPNMB,n.23229446A>G,,,,MODIFIER,,,,G,23229446,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,72206.0,27639.0,14692.0,12947.0,279.0,150.0,129.0,6080.0,2664.0,3416.0,1523.0,793.0,730.0,1084.0,475.0,609.0,4016.0,1000.0,3016.0,143.0,82.0,61.0,28558.0,16523.0,12035.0,1003.0,491.0,512.0,1881.0,455.0,1426.0,37325.0,34881.0,0.475133,0.668287,0.665037,0.672013,0.305921,0.319149,0.291855,0.398479,0.393268,0.40264,0.438652,0.424518,0.455112,0.208542,0.208516,0.208562,0.380375,0.389408,0.377472,0.452532,0.5,0.401316,0.420069,0.420155,0.419953,0.479446,0.474855,0.483932,0.390087,0.391566,0.389617,0.480151,0.469879,G,G,151970.0,41358.0,22092.0,19266.0,912.0,470.0,442.0,15258.0,6774.0,8484.0,3472.0,1868.0,1604.0,5198.0,2278.0,2920.0,10558.0,2568.0,7990.0,316.0,164.0,152.0,67984.0,39326.0,28658.0,2092.0,1034.0,1058.0,4822.0,1162.0,3660.0,77736.0,74234.0,9.64327e-16,59.9945,-0.039,1.0,19.4673,0.356,0.693458,20.8349,7,18441.0,9270.0,4917.0,4353.0,50.0,31.0,19.0,1246.0,557.0,689.0,347.0,175.0,172.0,133.0,61.0,72.0,759.0,193.0,566.0,35.0,21.0,14.0,5997.0,3449.0,2548.0,238.0,111.0,127.0,366.0,99.0,267.0,9614.0,8827.0,0.068512,23229446.0,A,rs1637190,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-02-27T14:00Z', 'rsid': 'rs10351335', 'rv': 120}, {'date': '2008-05-24T07:30Z', 'rsid': 'rs57872327', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.99972963A>C,17.123674,7,True,CA12594379,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.773, 'alspac': 0.706, 'dbgap_popfreq': 0.743, 'estonian': 0.729, 'genome_dk': 0.575, 'gnomad': 0.762, 'gonl': 0.675, 'korea1k': 0.787, 'korean': 0.809, 'northernsweden': 0.697, 'qatari': 0.829, 'sgdp_prj': 0.397, 'siberian': 0.458, 'tommo': 0.773, 'topmed': 0.779, 'twinsuk': 0.691, 'vietnamese': 0.74}}, {'allele': 'C', 'freq': {'1000g': 0.227, 'alspac': 0.294, 'dbgap_popfreq': 0.257, 'estonian': 0.271, 'genome_dk': 0.425, 'gnomad': 0.238, 'gonl': 0.325, 'korea1k': 0.213, 'korean': 0.191, 'northernsweden': 0.303, 'qatari': 0.171, 'sgdp_prj': 0.603, 'siberian': 0.542, 'tommo': 0.227, 'topmed': 0.221, 'twinsuk': 0.309, 'vietnamese': 0.26}}]",C,7,155.0,563.0,False,"alpha-2-glycoprotein 1, zinc-binding","[{'hgvs': 'NM_001185.4:c.77-957=', 'protein_product': {'refseq': 'NP_001176.1'}, 'refseq': 'NM_001185.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,AZGP1,99972963.0,99972963.0,A,rs1987580,snv,99972963.0,99972963.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_001185.3,transcript,AZGP1,AZGP1,c.77-957T>G,,,,MODIFIER,1,3,protein_coding,C,99972963,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,36469.0,5797.0,3128.0,2669.0,255.0,136.0,119.0,3023.0,1356.0,1667.0,844.0,451.0,393.0,1103.0,491.0,612.0,3893.0,951.0,2942.0,58.0,31.0,27.0,19612.0,11300.0,8312.0,463.0,229.0,234.0,1421.0,378.0,1043.0,18451.0,18018.0,0.240095,0.140119,0.141449,0.138592,0.280837,0.291845,0.269231,0.198204,0.200177,0.196627,0.243228,0.241693,0.245012,0.213099,0.2163,0.210599,0.369916,0.370616,0.369691,0.183544,0.189024,0.177632,0.288531,0.287342,0.290163,0.222596,0.222763,0.222433,0.294569,0.325301,0.284817,0.237355,0.242968,C,C,151894.0,41372.0,22114.0,19258.0,908.0,466.0,442.0,15252.0,6774.0,8478.0,3470.0,1866.0,1604.0,5176.0,2270.0,2906.0,10524.0,2566.0,7958.0,316.0,164.0,152.0,67972.0,39326.0,28646.0,2080.0,1028.0,1052.0,4824.0,1162.0,3662.0,77736.0,74158.0,1.44649e-15,59.8141,0.0,1.0,16.3846,0.414,0.69966,6.6914,7,4831.0,421.0,228.0,193.0,38.0,21.0,17.0,300.0,139.0,161.0,101.0,49.0,52.0,131.0,63.0,68.0,737.0,181.0,556.0,6.0,4.0,2.0,2801.0,1644.0,1157.0,60.0,30.0,30.0,236.0,74.0,162.0,2433.0,2398.0,0.0329195,99972963.0,A,rs1987580,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100174226A>G,17.123701,7,True,CA12516224,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.576, 'alspac': 0.538, 'dbgap_popfreq': 0.549, 'estonian': 0.593, 'genome_dk': 0.55, 'gnomad': 0.602, 'gonl': 0.548, 'hapmap': 0.603, 'korea1k': 0.321, 'korean': 0.315, 'northernsweden': 0.578, 'qatari': 0.551, 'sgdp_prj': 0.286, 'siberian': 0.306, 'tommo': 0.36, 'topmed': 0.595, 'twinsuk': 0.519, 'vietnamese': 0.307}}, {'allele': 'G', 'freq': {'1000g': 0.424, 'alspac': 0.462, 'dbgap_popfreq': 0.451, 'estonian': 0.407, 'genome_dk': 0.45, 'gnomad': 0.398, 'gonl': 0.452, 'hapmap': 0.397, 'korea1k': 0.679, 'korean': 0.685, 'northernsweden': 0.422, 'qatari': 0.449, 'sgdp_prj': 0.714, 'siberian': 0.694, 'tommo': 0.64, 'topmed': 0.405, 'twinsuk': 0.481, 'vietnamese': 0.693}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",G,7,155.0,221914.0,False,glypican 2,"[{'hgvs': 'NM_152742.3:c.730-229=', 'protein_product': {'refseq': 'NP_689955.1'}, 'refseq': 'NM_152742.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,GPC2,100174226.0,100174226.0,A,rs3735242,snv,100174226.0,100174226.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,100174226,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,61663.0,7381.0,3964.0,3417.0,520.0,267.0,253.0,8414.0,3734.0,4680.0,1892.0,1011.0,881.0,3545.0,1567.0,1978.0,5227.0,1311.0,3916.0,143.0,78.0,65.0,31652.0,18176.0,13476.0,893.0,439.0,454.0,1996.0,517.0,1479.0,31064.0,30599.0,0.406046,0.178475,0.179334,0.177488,0.572687,0.570513,0.575,0.551882,0.551225,0.552408,0.545874,0.542382,0.549938,0.685422,0.690308,0.681599,0.495544,0.510912,0.490604,0.452532,0.47561,0.427632,0.465882,0.4624,0.470662,0.427273,0.425388,0.429112,0.414108,0.444923,0.404319,0.399732,0.412664,G,G,151862.0,41356.0,22104.0,19252.0,908.0,468.0,440.0,15246.0,6774.0,8472.0,3466.0,1864.0,1602.0,5172.0,2270.0,2902.0,10548.0,2566.0,7982.0,316.0,164.0,152.0,67940.0,39308.0,28632.0,2090.0,1032.0,1058.0,4820.0,1162.0,3658.0,77712.0,74150.0,4.82164e-16,59.9959,-0.032,1.0,18.9869,0.326,0.702793,22.8829,7,14361.0,695.0,362.0,333.0,154.0,76.0,78.0,2403.0,1061.0,1342.0,505.0,265.0,240.0,1234.0,550.0,684.0,1312.0,341.0,971.0,36.0,24.0,12.0,7382.0,4222.0,3160.0,196.0,97.0,99.0,444.0,135.0,309.0,7133.0,7228.0,0.101129,100174226.0,A,rs3735242,snp,,"[{'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282717.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3498', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282716.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282718.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_012447.3', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_152742.2', 'feature_type': 'transcript', 'gene_id': 'GPC2', 'genename': 'GPC2', 'hgvs_c': 'c.730-229T>C', 'putative_impact': 'MODIFIER', 'rank': '4', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-02-27T12:48Z,rs10358256,120.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100174226A>T,17.123457,7,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.576, 'alspac': 0.538, 'dbgap_popfreq': 0.549, 'estonian': 0.593, 'genome_dk': 0.55, 'gnomad': 0.602, 'gonl': 0.548, 'hapmap': 0.603, 'korea1k': 0.321, 'korean': 0.315, 'northernsweden': 0.578, 'qatari': 0.551, 'sgdp_prj': 0.286, 'siberian': 0.306, 'tommo': 0.36, 'topmed': 0.595, 'twinsuk': 0.519, 'vietnamese': 0.307}}, {'allele': 'G', 'freq': {'1000g': 0.424, 'alspac': 0.462, 'dbgap_popfreq': 0.451, 'estonian': 0.407, 'genome_dk': 0.45, 'gnomad': 0.398, 'gonl': 0.452, 'hapmap': 0.397, 'korea1k': 0.679, 'korean': 0.685, 'northernsweden': 0.422, 'qatari': 0.449, 'sgdp_prj': 0.714, 'siberian': 0.694, 'tommo': 0.64, 'topmed': 0.405, 'twinsuk': 0.481, 'vietnamese': 0.693}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,7,155.0,221914.0,False,glypican 2,"[{'hgvs': 'NM_152742.3:c.730-229=', 'protein_product': {'refseq': 'NP_689955.1'}, 'refseq': 'NM_152742.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,GPC2,100174226.0,100174226.0,A,rs3735242,snv,100174226.0,100174226.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,100174226,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282717.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3498', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282716.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001282718.1', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3517', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_012447.3', 'feature_type': 'transcript', 'gene_id': 'STAG3', 'genename': 'STAG3', 'hgvs_c': 'c.-6331A>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_152742.2', 'feature_type': 'transcript', 'gene_id': 'GPC2', 'genename': 'GPC2', 'hgvs_c': 'c.730-229T>A', 'putative_impact': 'MODIFIER', 'rank': '4', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-02-27T12:48Z,rs10358256,120.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100240485T>C,17.123756,7,True,CA12569419,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.83, 'alspac': 0.794, 'dbgap_popfreq': 0.808, 'genome_dk': 0.775, 'gnomad': 0.825, 'gonl': 0.796, 'korea1k': 0.836, 'korean': 0.832, 'northernsweden': 0.708, 'qatari': 0.801, 'sgdp_prj': 0.455, 'siberian': 0.5, 'tommo': 0.747, 'topmed': 0.833, 'twinsuk': 0.797, 'vietnamese': 0.898}}, {'allele': 'C', 'freq': {'1000g': 0.17, 'alspac': 0.206, 'dbgap_popfreq': 0.192, 'genome_dk': 0.225, 'gnomad': 0.175, 'gonl': 0.204, 'korea1k': 0.164, 'korean': 0.168, 'northernsweden': 0.292, 'qatari': 0.199, 'sgdp_prj': 0.545, 'siberian': 0.5, 'tommo': 0.253, 'topmed': 0.167, 'twinsuk': 0.203, 'vietnamese': 0.102}}]",C,7,155.0,352954.0,True,CASTOR family member 3,"[{'refseq': 'NR_028038.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'NR_028039.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'NR_028040.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'NR_166147.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,CASTOR3,100240485.0,100240485.0,T,rs7782051,snv,100240485.0,100240485.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,100240485,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,26847.0,5630.0,3015.0,2615.0,116.0,63.0,53.0,2081.0,861.0,1220.0,678.0,379.0,299.0,801.0,357.0,444.0,2249.0,530.0,1719.0,62.0,34.0,28.0,13847.0,8085.0,5762.0,370.0,179.0,191.0,1013.0,233.0,780.0,13736.0,13111.0,0.176623,0.136076,0.136401,0.135703,0.127193,0.134043,0.11991,0.136423,0.127029,0.143936,0.195502,0.203108,0.186642,0.154335,0.156579,0.152577,0.212571,0.206547,0.2145,0.196203,0.207317,0.184211,0.203662,0.205526,0.201103,0.176864,0.173114,0.180529,0.209905,0.200516,0.212882,0.176642,0.176603,C,C,152002.0,41374.0,22104.0,19270.0,912.0,470.0,442.0,15254.0,6778.0,8476.0,3468.0,1866.0,1602.0,5190.0,2280.0,2910.0,10580.0,2566.0,8014.0,316.0,164.0,152.0,67990.0,39338.0,28652.0,2092.0,1034.0,1058.0,4826.0,1162.0,3664.0,77762.0,74240.0,4.82164e-16,59.7744,0.016,1.0,15.0012,0.29,0.696492,4.3222,7,2462.0,385.0,209.0,176.0,6.0,6.0,0.0,155.0,69.0,86.0,73.0,41.0,32.0,75.0,28.0,47.0,231.0,52.0,179.0,8.0,5.0,3.0,1396.0,814.0,582.0,32.0,15.0,17.0,101.0,26.0,75.0,1265.0,1197.0,0.00882494,100240485.0,T,rs7782051,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_178831.6', 'feature_type': 'transcript', 'gene_id': 'GATS', 'genename': 'GATS', 'hgvs_c': 'c.147-6811A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '4', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NR_028039.1', 'feature_type': 'transcript', 'gene_id': 'GATS', 'genename': 'GATS', 'hgvs_c': 'n.396-6811A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '7', 'transcript_biotype': 'pseudogene'}, {'effect': 'intron_variant', 'feature_id': 'NR_028040.1', 'feature_type': 'transcript', 'gene_id': 'GATS', 'genename': 'GATS', 'hgvs_c': 'n.396-6811A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '5', 'transcript_biotype': 'pseudogene'}, {'effect': 'intron_variant', 'feature_id': 'NR_028038.1', 'feature_type': 'transcript', 'gene_id': 'GATS', 'genename': 'GATS', 'hgvs_c': 'n.396-6811A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '6', 'transcript_biotype': 'pseudogene'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2013-04-26T00:07Z,rs77673290,138.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100386466T>C,17.123947,7,True,CA12544367,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.774, 'alspac': 0.677, 'dbgap_popfreq': 0.854, 'estonian': 0.734, 'genome_dk': 0.625, 'gonl': 0.658, 'korea1k': 0.659, 'korean': 0.662, 'northernsweden': 0.707, 'qatari': 0.759, 'sgdp_prj': 0.4, 'siberian': 0.423, 'tommo': 0.713, 'topmed': 0.768, 'twinsuk': 0.67}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.226, 'alspac': 0.323, 'dbgap_popfreq': 0.146, 'estonian': 0.266, 'genome_dk': 0.375, 'gonl': 0.342, 'korea1k': 0.341, 'korean': 0.338, 'northernsweden': 0.293, 'qatari': 0.241, 'sgdp_prj': 0.6, 'siberian': 0.577, 'tommo': 0.287, 'topmed': 0.232, 'twinsuk': 0.33}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",C,7,155.0,29992.0,False,paired immunoglobin like type 2 receptor alpha,"[{'hgvs': 'NM_013439.3:c.455-3422=', 'protein_product': {'refseq': 'NP_038467.2'}, 'refseq': 'NM_013439.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178272.2:c.455-11413=', 'protein_product': {'refseq': 'NP_840056.1'}, 'refseq': 'NM_178272.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178273.2:c.454+12033=', 'protein_product': {'refseq': 'NP_840057.1'}, 'refseq': 'NM_178273.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_024446739.1:c.455-3422=', 'protein_product': {'refseq': 'XP_024302507.1'}, 'refseq': 'XM_024446739.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PILRA,100386466.0,100386466.0,T,rs2906657,snv,100386466.0,100386466.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,100386466,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,36191.0,3125.0,1688.0,1437.0,310.0,162.0,148.0,3738.0,1706.0,2032.0,793.0,424.0,369.0,1741.0,775.0,966.0,2864.0,744.0,2120.0,74.0,34.0,40.0,21864.0,12533.0,9331.0,502.0,241.0,261.0,1180.0,329.0,851.0,18636.0,17555.0,0.238692,0.0756952,0.0764424,0.074836,0.339912,0.344681,0.334842,0.245598,0.251994,0.240473,0.228926,0.227224,0.230914,0.33662,0.340809,0.333333,0.27297,0.291536,0.267003,0.234177,0.207317,0.263158,0.322117,0.319166,0.326168,0.242044,0.234436,0.249522,0.24522,0.282646,0.233279,0.240037,0.237281,C,C,151622.0,41284.0,22082.0,19202.0,912.0,470.0,442.0,15220.0,6770.0,8450.0,3464.0,1866.0,1598.0,5172.0,2274.0,2898.0,10492.0,2552.0,7940.0,316.0,164.0,152.0,67876.0,39268.0,28608.0,2074.0,1028.0,1046.0,4812.0,1164.0,3648.0,77638.0,73984.0,0.0,59.9815,-0.024,1.0,16.0331,0.285,0.699225,12.7114,7,5137.0,143.0,74.0,69.0,55.0,30.0,25.0,447.0,207.0,240.0,88.0,42.0,46.0,299.0,144.0,155.0,373.0,111.0,262.0,10.0,6.0,4.0,3501.0,1996.0,1505.0,64.0,31.0,33.0,157.0,53.0,104.0,2694.0,2443.0,0.0602162,100386466.0,T,rs2906657,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_013439.2', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-3422T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178272.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-11413T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178273.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.454+12033T>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '4', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100386466T>A,17.123816,7,True,CA163257547,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.774, 'alspac': 0.677, 'dbgap_popfreq': 0.854, 'estonian': 0.734, 'genome_dk': 0.625, 'gonl': 0.658, 'korea1k': 0.659, 'korean': 0.662, 'northernsweden': 0.707, 'qatari': 0.759, 'sgdp_prj': 0.4, 'siberian': 0.423, 'tommo': 0.713, 'topmed': 0.768, 'twinsuk': 0.67}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.226, 'alspac': 0.323, 'dbgap_popfreq': 0.146, 'estonian': 0.266, 'genome_dk': 0.375, 'gonl': 0.342, 'korea1k': 0.341, 'korean': 0.338, 'northernsweden': 0.293, 'qatari': 0.241, 'sgdp_prj': 0.6, 'siberian': 0.577, 'tommo': 0.287, 'topmed': 0.232, 'twinsuk': 0.33}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",A,7,155.0,29992.0,False,paired immunoglobin like type 2 receptor alpha,"[{'hgvs': 'NM_013439.3:c.455-3422=', 'protein_product': {'refseq': 'NP_038467.2'}, 'refseq': 'NM_013439.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178272.2:c.455-11413=', 'protein_product': {'refseq': 'NP_840056.1'}, 'refseq': 'NM_178272.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178273.2:c.454+12033=', 'protein_product': {'refseq': 'NP_840057.1'}, 'refseq': 'NM_178273.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_024446739.1:c.455-3422=', 'protein_product': {'refseq': 'XP_024302507.1'}, 'refseq': 'XM_024446739.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PILRA,100386466.0,100386466.0,T,rs2906657,snv,100386466.0,100386466.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,100386466,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,6.59257e-06,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.47284e-05,0.0,3.4943e-05,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.35091e-05,A,A,151686.0,41296.0,22088.0,19208.0,912.0,470.0,442.0,15226.0,6772.0,8454.0,3466.0,1866.0,1600.0,5174.0,2276.0,2898.0,10504.0,2554.0,7950.0,316.0,164.0,152.0,67896.0,39278.0,28618.0,2080.0,1030.0,1050.0,4816.0,1164.0,3652.0,77662.0,74024.0,,60.0,0.585,0.711703,12.3974,0.271,1.03041,4.8714,7,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-6.67572e-06,100386466.0,T,rs2906657,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_013439.2', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-3422T>A', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178272.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-11413T>A', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178273.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.454+12033T>A', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '4', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.100386466T>G,17.123796,7,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.774, 'alspac': 0.677, 'dbgap_popfreq': 0.854, 'estonian': 0.734, 'genome_dk': 0.625, 'gonl': 0.658, 'korea1k': 0.659, 'korean': 0.662, 'northernsweden': 0.707, 'qatari': 0.759, 'sgdp_prj': 0.4, 'siberian': 0.423, 'tommo': 0.713, 'topmed': 0.768, 'twinsuk': 0.67}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.226, 'alspac': 0.323, 'dbgap_popfreq': 0.146, 'estonian': 0.266, 'genome_dk': 0.375, 'gonl': 0.342, 'korea1k': 0.341, 'korean': 0.338, 'northernsweden': 0.293, 'qatari': 0.241, 'sgdp_prj': 0.6, 'siberian': 0.577, 'tommo': 0.287, 'topmed': 0.232, 'twinsuk': 0.33}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",G,7,155.0,29992.0,False,paired immunoglobin like type 2 receptor alpha,"[{'hgvs': 'NM_013439.3:c.455-3422=', 'protein_product': {'refseq': 'NP_038467.2'}, 'refseq': 'NM_013439.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178272.2:c.455-11413=', 'protein_product': {'refseq': 'NP_840056.1'}, 'refseq': 'NM_178272.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_178273.2:c.454+12033=', 'protein_product': {'refseq': 'NP_840057.1'}, 'refseq': 'NM_178273.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_024446739.1:c.455-3422=', 'protein_product': {'refseq': 'XP_024302507.1'}, 'refseq': 'XM_024446739.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PILRA,100386466.0,100386466.0,T,rs2906657,snv,100386466.0,100386466.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,100386466,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_013439.2', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-3422T>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178272.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.455-11413T>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_178273.1', 'feature_type': 'transcript', 'gene_id': 'PILRA', 'genename': 'PILRA', 'hgvs_c': 'c.454+12033T>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '4', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.143407238G>C,17.123535,7,True,CA15513017,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.805, 'alspac': 0.607, 'dbgap_popfreq': 0.701, 'estonian': 0.737, 'genome_dk': 0.7, 'gnomad': 0.734, 'gonl': 0.617, 'korea1k': 0.974, 'korean': 0.975, 'northernsweden': 0.637, 'qatari': 0.676, 'sgdp_prj': 0.435, 'siberian': 0.5, 'tommo': 0.976, 'topmed': 0.742, 'twinsuk': 0.618}}, {'allele': 'C', 'freq': {'1000g': 0.195, 'alspac': 0.393, 'dbgap_popfreq': 0.299, 'estonian': 0.263, 'genome_dk': 0.3, 'gnomad': 0.266, 'gonl': 0.383, 'korea1k': 0.026, 'korean': 0.025, 'northernsweden': 0.363, 'qatari': 0.324, 'sgdp_prj': 0.565, 'siberian': 0.5, 'tommo': 0.024, 'topmed': 0.258, 'twinsuk': 0.382}}]",C,7,155.0,,,,,,,143407238.0,143407238.0,G,rs3935067,snv,143407238.0,143407238.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,143407238,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,40619.0,4715.0,2499.0,2216.0,292.0,147.0,145.0,3776.0,1638.0,2138.0,1342.0,724.0,618.0,157.0,72.0,85.0,2630.0,688.0,1942.0,122.0,68.0,54.0,25319.0,14661.0,10658.0,651.0,316.0,335.0,1615.0,419.0,1196.0,21232.0,19387.0,0.267434,0.114043,0.113087,0.115141,0.320879,0.314103,0.328054,0.247509,0.241878,0.252004,0.386967,0.387996,0.385768,0.0302855,0.0317181,0.0291695,0.248912,0.267704,0.242871,0.388535,0.419753,0.355263,0.372623,0.372902,0.372241,0.313282,0.306796,0.319656,0.335341,0.359966,0.327492,0.2732,0.261393,C,C,151884.0,41344.0,22098.0,19246.0,910.0,468.0,442.0,15256.0,6772.0,8484.0,3468.0,1866.0,1602.0,5184.0,2270.0,2914.0,10566.0,2570.0,7996.0,314.0,162.0,152.0,67948.0,39316.0,28632.0,2078.0,1030.0,1048.0,4816.0,1164.0,3652.0,77716.0,74168.0,0.0,59.9974,-0.014,1.0,16.844,0.318,0.696278,22.3867,7,6611.0,295.0,153.0,142.0,50.0,24.0,26.0,510.0,229.0,281.0,262.0,141.0,121.0,3.0,3.0,0.0,320.0,85.0,235.0,26.0,16.0,10.0,4754.0,2748.0,2006.0,112.0,48.0,64.0,279.0,73.0,206.0,3520.0,3091.0,0.0798037,143407238.0,G,rs3935067,snp,33516273,"[{'distance_to_feature': '575', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_033897.1', 'feature_type': 'transcript', 'gene_id': 'EPHA1-AS1', 'genename': 'EPHA1-AS1', 'hgvs_c': 'n.-575G>C', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'effect': 'intron_variant', 'feature_id': 'NM_005232.4', 'feature_type': 'transcript', 'gene_id': 'EPHA1', 'genename': 'EPHA1', 'hgvs_c': 'c.150+373C>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '17', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-04-5T10:28Z,rs11496053,121.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'geneid': 2041, 'is_pseudo': False, 'name': 'EPH receptor A1', 'rnas': [{'hgvs': 'NM_005232.5:c.150+373=', 'protein_product': {'refseq': 'NP_005223.4'}, 'refseq': 'NM_005232.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_006715880.3:c.150+373=', 'protein_product': {'refseq': 'XP_006715943.1'}, 'refseq': 'XM_006715880.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_428169.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '-', 'symbol': 'EPHA1'}, {'geneid': 285965, 'is_pseudo': False, 'name': 'EPHA1 antisense RNA 1', 'rnas': [{'refseq': 'NR_033897.1', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}], 'so': [{'accession': 'SO:0001636', 'name': '2KB_upstream_variant'}], 'strand': '+', 'symbol': 'EPHA1-AS1'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.143412046T>A,17.12358,7,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.802, 'alspac': 0.795, 'dbgap_popfreq': 0.806, 'estonian': 0.802, 'genome_dk': 0.725, 'gnomad': 0.818, 'gonl': 0.784, 'hapmap': 0.802, 'hgdp_stanford': 0.83, 'korea1k': 0.848, 'korean': 0.84, 'northernsweden': 0.758, 'page_study': 0.822, 'prjeb36033': 1.0, 'prjeb37584': 0.868, 'qatari': 0.843, 'sgdp_prj': 0.438, 'siberian': 0.5, 'tommo': 0.819, 'topmed': 0.816, 'twinsuk': 0.787, 'vietnamese': 0.917}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.198, 'alspac': 0.205, 'dbgap_popfreq': 0.194, 'estonian': 0.198, 'genome_dk': 0.275, 'gnomad': 0.182, 'gonl': 0.216, 'hapmap': 0.198, 'hgdp_stanford': 0.17, 'korea1k': 0.152, 'korean': 0.16, 'northernsweden': 0.242, 'page_study': 0.178, 'prjeb36033': 0.0, 'prjeb37584': 0.132, 'qatari': 0.157, 'sgdp_prj': 0.562, 'siberian': 0.5, 'tommo': 0.181, 'topmed': 0.184, 'twinsuk': 0.213, 'vietnamese': 0.083}}]",A,7,155.0,285965.0,False,EPHA1 antisense RNA 1,"[{'refseq': 'NR_033897.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,EPHA1-AS1,143412046.0,143412046.0,T,rs11767557,snv,143412046.0,143412046.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,143412046,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[21460840, 21460841, 21798052, 22005930, 22159054, 22595970, 22833209, 24987407, 25108264, 25189118, 25426068, 26680604, 26993346, 27274215, 29332039, 30378268]","[{'distance_to_feature': '3154', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_005232.4', 'feature_type': 'transcript', 'gene_id': 'EPHA1', 'genename': 'EPHA1', 'hgvs_c': 'c.-3241A>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NR_033897.1', 'feature_type': 'transcript', 'gene_id': 'EPHA1-AS1', 'genename': 'EPHA1-AS1', 'hgvs_c': 'n.75-3022T>A', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '4', 'transcript_biotype': 'pseudogene'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-24T20:54Z,rs58541020,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr7:g.143412046T>C,17.123491,7,True,CA12486616,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.802, 'alspac': 0.795, 'dbgap_popfreq': 0.806, 'estonian': 0.802, 'genome_dk': 0.725, 'gnomad': 0.818, 'gonl': 0.784, 'hapmap': 0.802, 'hgdp_stanford': 0.83, 'korea1k': 0.848, 'korean': 0.84, 'northernsweden': 0.758, 'page_study': 0.822, 'prjeb36033': 1.0, 'prjeb37584': 0.868, 'qatari': 0.843, 'sgdp_prj': 0.438, 'siberian': 0.5, 'tommo': 0.819, 'topmed': 0.816, 'twinsuk': 0.787, 'vietnamese': 0.917}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.198, 'alspac': 0.205, 'dbgap_popfreq': 0.194, 'estonian': 0.198, 'genome_dk': 0.275, 'gnomad': 0.182, 'gonl': 0.216, 'hapmap': 0.198, 'hgdp_stanford': 0.17, 'korea1k': 0.152, 'korean': 0.16, 'northernsweden': 0.242, 'page_study': 0.178, 'prjeb36033': 0.0, 'prjeb37584': 0.132, 'qatari': 0.157, 'sgdp_prj': 0.562, 'siberian': 0.5, 'tommo': 0.181, 'topmed': 0.184, 'twinsuk': 0.213, 'vietnamese': 0.083}}]",C,7,155.0,285965.0,False,EPHA1 antisense RNA 1,"[{'refseq': 'NR_033897.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,EPHA1-AS1,143412046.0,143412046.0,T,rs11767557,snv,143412046.0,143412046.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,143412046,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,28081.0,6917.0,3717.0,3200.0,200.0,107.0,93.0,2888.0,1291.0,1597.0,389.0,198.0,191.0,767.0,331.0,436.0,1571.0,404.0,1167.0,48.0,27.0,21.0,13696.0,7965.0,5731.0,346.0,169.0,177.0,1259.0,313.0,946.0,14522.0,13559.0,0.184714,0.167198,0.16819,0.166061,0.21978,0.22766,0.211364,0.189129,0.190469,0.188059,0.112039,0.105996,0.119077,0.147898,0.145175,0.150034,0.148124,0.157076,0.145258,0.151899,0.164634,0.138158,0.201453,0.202517,0.199993,0.166346,0.164078,0.168571,0.260771,0.2689,0.258188,0.186764,0.182569,C,C,152024.0,41370.0,22100.0,19270.0,910.0,470.0,440.0,15270.0,6778.0,8492.0,3472.0,1868.0,1604.0,5186.0,2280.0,2906.0,10606.0,2572.0,8034.0,316.0,164.0,152.0,67986.0,39330.0,28656.0,2080.0,1030.0,1050.0,4828.0,1164.0,3664.0,77756.0,74268.0,4.82164e-16,59.9961,0.0,1.0,15.7366,0.346,0.682154,22.789,7,2761.0,601.0,326.0,275.0,25.0,16.0,9.0,280.0,134.0,146.0,16.0,7.0,9.0,57.0,26.0,31.0,123.0,37.0,86.0,5.0,4.0,1.0,1436.0,815.0,621.0,34.0,13.0,21.0,184.0,39.0,145.0,1417.0,1344.0,0.0154095,143412046.0,T,rs11767557,snp,"[21460840, 21460841, 21798052, 22005930, 22159054, 22595970, 22833209, 24987407, 25108264, 25189118, 25426068, 26680604, 26993346, 27274215, 29332039, 30378268]","[{'distance_to_feature': '3154', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_005232.4', 'feature_type': 'transcript', 'gene_id': 'EPHA1', 'genename': 'EPHA1', 'hgvs_c': 'c.-3241A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NR_033897.1', 'feature_type': 'transcript', 'gene_id': 'EPHA1-AS1', 'genename': 'EPHA1-AS1', 'hgvs_c': 'n.75-3022T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '4', 'transcript_biotype': 'pseudogene'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-24T20:54Z,rs58541020,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.16840070T>G,17.123661,8,True,CA12754385,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.625, 'alspac': 0.71, 'dbgap_popfreq': 0.764, 'estonian': 0.666, 'genome_dk': 0.75, 'gnomad': 0.705, 'hapmap': 0.663, 'korea1k': 0.586, 'korean': 0.566, 'northernsweden': 0.738, 'qatari': 0.745, 'sgdp_prj': 0.351, 'siberian': 0.4, 'tommo': 0.631, 'topmed': 0.702, 'twinsuk': 0.711, 'vietnamese': 0.533}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.375, 'alspac': 0.29, 'dbgap_popfreq': 0.236, 'estonian': 0.334, 'genome_dk': 0.25, 'gnomad': 0.295, 'hapmap': 0.337, 'korea1k': 0.414, 'korean': 0.434, 'northernsweden': 0.262, 'qatari': 0.255, 'sgdp_prj': 0.649, 'siberian': 0.6, 'tommo': 0.369, 'topmed': 0.298, 'twinsuk': 0.289, 'vietnamese': 0.467}}]",G,8,155.0,105379297.0,False,uncharacterized LOC105379297,"[{'refseq': 'XR_949524.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_949525.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,LOC105379297,16840070.0,16840070.0,T,rs620490,snv,16840070.0,16840070.0,http://bit.ly/2suyRKt,,,,,intergenic_region,MSR1-FGF20,intergenic_region,MSR1-FGF20,MSR1-FGF20,n.16840070T>G,,,,MODIFIER,,,,G,16840070,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,46170.0,11901.0,6268.0,5633.0,214.0,121.0,93.0,4615.0,2075.0,2540.0,894.0,475.0,419.0,2133.0,921.0,1212.0,3500.0,850.0,2650.0,90.0,50.0,40.0,19647.0,11268.0,8379.0,585.0,273.0,312.0,2591.0,636.0,1955.0,22937.0,23233.0,0.304475,0.288271,0.284134,0.293019,0.235165,0.258547,0.210407,0.303459,0.307044,0.300592,0.257488,0.254283,0.261222,0.414497,0.408245,0.419377,0.333524,0.331772,0.33409,0.28481,0.304878,0.263158,0.289318,0.286791,0.292788,0.279637,0.264535,0.29434,0.538894,0.548276,0.53591,0.295511,0.313875,G,G,151638.0,41284.0,22060.0,19224.0,910.0,468.0,442.0,15208.0,6758.0,8450.0,3472.0,1868.0,1604.0,5146.0,2256.0,2890.0,10494.0,2562.0,7932.0,316.0,164.0,152.0,67908.0,39290.0,28618.0,2092.0,1032.0,1060.0,4808.0,1160.0,3648.0,77618.0,74020.0,0.0,59.9971,-0.03,1.0,23.6304,0.343,0.694015,22.4434,8,7266.0,1724.0,874.0,850.0,22.0,13.0,9.0,724.0,312.0,412.0,133.0,68.0,65.0,430.0,188.0,242.0,575.0,138.0,437.0,9.0,4.0,5.0,2861.0,1629.0,1232.0,76.0,37.0,39.0,712.0,178.0,534.0,3441.0,3825.0,0.0184926,16840070.0,T,rs620490,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T19:42Z,rs57239093,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.16840070T>C,16.612244,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.625, 'alspac': 0.71, 'dbgap_popfreq': 0.764, 'estonian': 0.666, 'genome_dk': 0.75, 'gnomad': 0.705, 'hapmap': 0.663, 'korea1k': 0.586, 'korean': 0.566, 'northernsweden': 0.738, 'qatari': 0.745, 'sgdp_prj': 0.351, 'siberian': 0.4, 'tommo': 0.631, 'topmed': 0.702, 'twinsuk': 0.711, 'vietnamese': 0.533}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.375, 'alspac': 0.29, 'dbgap_popfreq': 0.236, 'estonian': 0.334, 'genome_dk': 0.25, 'gnomad': 0.295, 'hapmap': 0.337, 'korea1k': 0.414, 'korean': 0.434, 'northernsweden': 0.262, 'qatari': 0.255, 'sgdp_prj': 0.649, 'siberian': 0.6, 'tommo': 0.369, 'topmed': 0.298, 'twinsuk': 0.289, 'vietnamese': 0.467}}]",C,8,155.0,105379297.0,False,uncharacterized LOC105379297,"[{'refseq': 'XR_949524.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_949525.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,LOC105379297,16840070.0,16840070.0,T,rs620490,snv,16840070.0,16840070.0,http://bit.ly/2suyRKt,,,,,intergenic_region,MSR1-FGF20,intergenic_region,MSR1-FGF20,MSR1-FGF20,n.16840070T>C,,,,MODIFIER,,,,C,16840070,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T19:42Z,rs57239093,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.16840070T>A,16.612244,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.625, 'alspac': 0.71, 'dbgap_popfreq': 0.764, 'estonian': 0.666, 'genome_dk': 0.75, 'gnomad': 0.705, 'hapmap': 0.663, 'korea1k': 0.586, 'korean': 0.566, 'northernsweden': 0.738, 'qatari': 0.745, 'sgdp_prj': 0.351, 'siberian': 0.4, 'tommo': 0.631, 'topmed': 0.702, 'twinsuk': 0.711, 'vietnamese': 0.533}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.375, 'alspac': 0.29, 'dbgap_popfreq': 0.236, 'estonian': 0.334, 'genome_dk': 0.25, 'gnomad': 0.295, 'hapmap': 0.337, 'korea1k': 0.414, 'korean': 0.434, 'northernsweden': 0.262, 'qatari': 0.255, 'sgdp_prj': 0.649, 'siberian': 0.6, 'tommo': 0.369, 'topmed': 0.298, 'twinsuk': 0.289, 'vietnamese': 0.467}}]",A,8,155.0,105379297.0,False,uncharacterized LOC105379297,"[{'refseq': 'XR_949524.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_949525.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,LOC105379297,16840070.0,16840070.0,T,rs620490,snv,16840070.0,16840070.0,http://bit.ly/2suyRKt,,,,,intergenic_region,MSR1-FGF20,intergenic_region,MSR1-FGF20,MSR1-FGF20,n.16840070T>A,,,,MODIFIER,,,,A,16840070,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T19:42Z,rs57239093,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27369273A>T,17.123585,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.585, 'alspac': 0.599, 'dbgap_popfreq': 0.605, 'estonian': 0.681, 'genome_dk': 0.525, 'gnomad': 0.574, 'gonl': 0.594, 'hapmap': 0.564, 'hgdp_stanford': 0.596, 'korean': 0.784, 'northernsweden': 0.603, 'prjeb36033': 0.706, 'qatari': 0.468, 'sgdp_prj': 0.336, 'siberian': 0.5, 'tommo': 0.821, 'topmed': 0.578, 'twinsuk': 0.601, 'vietnamese': 0.741}}, {'allele': 'C', 'freq': {'1000g': 0.415, 'alspac': 0.401, 'dbgap_popfreq': 0.395, 'estonian': 0.319, 'genome_dk': 0.475, 'gnomad': 0.426, 'gonl': 0.406, 'hapmap': 0.436, 'hgdp_stanford': 0.404, 'korean': 0.216, 'northernsweden': 0.397, 'prjeb36033': 0.294, 'qatari': 0.532, 'sgdp_prj': 0.664, 'siberian': 0.5, 'tommo': 0.179, 'topmed': 0.422, 'twinsuk': 0.399, 'vietnamese': 0.259}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",T,8,155.0,2185.0,False,protein tyrosine kinase 2 beta,"[{'hgvs': 'NM_004103.4:c.-37-28275=', 'protein_product': {'refseq': 'NP_004094.3'}, 'refseq': 'NM_004103.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173174.3:c.-37-28275=', 'protein_product': {'refseq': 'NP_775266.1'}, 'refseq': 'NM_173174.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173175.2:c.-37-28275=', 'protein_product': {'refseq': 'NP_775267.1'}, 'refseq': 'NM_173175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173176.3:c.-37-28275=', 'protein_product': {'refseq': 'NP_775268.1'}, 'refseq': 'NM_173176.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005273504.1'}, 'refseq': 'XM_005273447.4', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_005273448.5:c.-37-28275=', 'protein_product': {'refseq': 'XP_005273505.1'}, 'refseq': 'XM_005273448.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544441.2:c.-37-28275=', 'protein_product': {'refseq': 'XP_011542743.1'}, 'refseq': 'XM_011544441.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544442.3:c.-37-28275=', 'protein_product': {'refseq': 'XP_011542744.1'}, 'refseq': 'XM_011544442.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013214.1:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868703.1'}, 'refseq': 'XM_017013214.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013215.1:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868704.1'}, 'refseq': 'XM_017013215.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013216.2:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868705.1'}, 'refseq': 'XM_017013216.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PTK2B,27369273.0,27369273.0,A,rs755951,snv,27369273.0,27369273.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,27369273,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_004103.4', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>T', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '31', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173174.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>T', 'putative_impact': 'MODIFIER', 'rank': '6', 'total': '35', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173176.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>T', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '30', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173175.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>T', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '29', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-25T07:46Z', 'rsid': 'rs59083544', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs386611412', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27369273A>C,17.123388,8,True,CA15561138,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.585, 'alspac': 0.599, 'dbgap_popfreq': 0.605, 'estonian': 0.681, 'genome_dk': 0.525, 'gnomad': 0.574, 'gonl': 0.594, 'hapmap': 0.564, 'hgdp_stanford': 0.596, 'korean': 0.784, 'northernsweden': 0.603, 'prjeb36033': 0.706, 'qatari': 0.468, 'sgdp_prj': 0.336, 'siberian': 0.5, 'tommo': 0.821, 'topmed': 0.578, 'twinsuk': 0.601, 'vietnamese': 0.741}}, {'allele': 'C', 'freq': {'1000g': 0.415, 'alspac': 0.401, 'dbgap_popfreq': 0.395, 'estonian': 0.319, 'genome_dk': 0.475, 'gnomad': 0.426, 'gonl': 0.406, 'hapmap': 0.436, 'hgdp_stanford': 0.404, 'korean': 0.216, 'northernsweden': 0.397, 'prjeb36033': 0.294, 'qatari': 0.532, 'sgdp_prj': 0.664, 'siberian': 0.5, 'tommo': 0.179, 'topmed': 0.422, 'twinsuk': 0.399, 'vietnamese': 0.259}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",C,8,155.0,2185.0,False,protein tyrosine kinase 2 beta,"[{'hgvs': 'NM_004103.4:c.-37-28275=', 'protein_product': {'refseq': 'NP_004094.3'}, 'refseq': 'NM_004103.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173174.3:c.-37-28275=', 'protein_product': {'refseq': 'NP_775266.1'}, 'refseq': 'NM_173174.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173175.2:c.-37-28275=', 'protein_product': {'refseq': 'NP_775267.1'}, 'refseq': 'NM_173175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_173176.3:c.-37-28275=', 'protein_product': {'refseq': 'NP_775268.1'}, 'refseq': 'NM_173176.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005273504.1'}, 'refseq': 'XM_005273447.4', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_005273448.5:c.-37-28275=', 'protein_product': {'refseq': 'XP_005273505.1'}, 'refseq': 'XM_005273448.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544441.2:c.-37-28275=', 'protein_product': {'refseq': 'XP_011542743.1'}, 'refseq': 'XM_011544441.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544442.3:c.-37-28275=', 'protein_product': {'refseq': 'XP_011542744.1'}, 'refseq': 'XM_011544442.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013214.1:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868703.1'}, 'refseq': 'XM_017013214.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013215.1:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868704.1'}, 'refseq': 'XM_017013215.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017013216.2:c.-37-28275=', 'protein_product': {'refseq': 'XP_016868705.1'}, 'refseq': 'XM_017013216.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PTK2B,27369273.0,27369273.0,A,rs755951,snv,27369273.0,27369273.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,27369273,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,64486.0,21555.0,11451.0,10104.0,429.0,227.0,202.0,5134.0,2275.0,2859.0,1258.0,687.0,571.0,1356.0,593.0,763.0,4008.0,989.0,3019.0,148.0,77.0,71.0,27175.0,15770.0,11405.0,899.0,455.0,444.0,2524.0,600.0,1924.0,33124.0,31362.0,0.425134,0.52285,0.519367,0.526854,0.470395,0.482979,0.457014,0.336567,0.335843,0.337146,0.362536,0.368167,0.355985,0.262384,0.261004,0.263467,0.380121,0.384825,0.378605,0.468354,0.469512,0.467105,0.400244,0.401436,0.398609,0.430144,0.440891,0.41966,0.524958,0.519031,0.526835,0.426658,0.423536,C,C,151684.0,41226.0,22048.0,19178.0,912.0,470.0,442.0,15254.0,6774.0,8480.0,3470.0,1866.0,1604.0,5168.0,2272.0,2896.0,10544.0,2570.0,7974.0,316.0,164.0,152.0,67896.0,39284.0,28612.0,2090.0,1032.0,1058.0,4808.0,1156.0,3652.0,77636.0,74048.0,0.0,59.9968,-0.017,1.0,19.0647,0.302,0.705401,22.7898,8,14210.0,5638.0,2988.0,2650.0,101.0,54.0,47.0,892.0,399.0,493.0,224.0,127.0,97.0,192.0,84.0,108.0,759.0,191.0,568.0,36.0,16.0,20.0,5480.0,3183.0,2297.0,193.0,102.0,91.0,695.0,177.0,518.0,7321.0,6889.0,0.0281219,27369273.0,A,rs755951,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_004103.4', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>C', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '31', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173174.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>C', 'putative_impact': 'MODIFIER', 'rank': '6', 'total': '35', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173176.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '30', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_173175.2', 'feature_type': 'transcript', 'gene_id': 'PTK2B', 'genename': 'PTK2B', 'hgvs_c': 'c.-37-28275A>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '29', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-25T07:46Z', 'rsid': 'rs59083544', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs386611412', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27472615A>C,17.123674,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.597, 'alspac': 0.699, 'dbgap_popfreq': 0.643, 'estonian': 0.669, 'genome_dk': 0.75, 'gnomad': 0.601, 'gonl': 0.721, 'korean': 0.503, 'northernsweden': 0.667, 'qatari': 0.727, 'sgdp_prj': 0.368, 'siberian': 0.35, 'tommo': 0.585, 'topmed': 0.598, 'twinsuk': 0.7, 'vietnamese': 0.643}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.403, 'alspac': 0.301, 'dbgap_popfreq': 0.357, 'estonian': 0.331, 'genome_dk': 0.25, 'gnomad': 0.399, 'gonl': 0.279, 'korean': 0.497, 'northernsweden': 0.333, 'qatari': 0.273, 'sgdp_prj': 0.632, 'siberian': 0.65, 'tommo': 0.415, 'topmed': 0.402, 'twinsuk': 0.3, 'vietnamese': 0.357}}]",C,8,155.0,1135.0,False,cholinergic receptor nicotinic alpha 2 subunit,"[{'hgvs': 'NM_000742.4:c.-136-1421=', 'protein_product': {'refseq': 'NP_000733.2'}, 'refseq': 'NM_000742.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282455.2:c.-136-1421=', 'protein_product': {'refseq': 'NP_001269384.1'}, 'refseq': 'NM_001282455.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347705.2:c.-563-1421=', 'protein_product': {'refseq': 'NP_001334634.1'}, 'refseq': 'NM_001347705.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347706.2:c.-608-1421=', 'protein_product': {'refseq': 'NP_001334635.1'}, 'refseq': 'NM_001347706.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347707.2:c.-549-1421=', 'protein_product': {'refseq': 'NP_001334636.1'}, 'refseq': 'NM_001347707.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347708.2:c.-597-1421=', 'protein_product': {'refseq': 'NP_001334637.1'}, 'refseq': 'NM_001347708.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544389.2:c.-594-1421=', 'protein_product': {'refseq': 'XP_011542691.1'}, 'refseq': 'XM_011544389.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,CHRNA2,27472615.0,27472615.0,A,rs2565048,snv,27472615.0,27472615.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,27472615,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_000742.3', 'feature_type': 'transcript', 'gene_id': 'CHRNA2', 'genename': 'CHRNA2', 'hgvs_c': 'c.-136-1421T>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282455.1', 'feature_type': 'transcript', 'gene_id': 'CHRNA2', 'genename': 'CHRNA2', 'hgvs_c': 'c.-136-1421T>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '6', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2006-03-11T03:49Z,rs7832862,126.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27472615A>G,17.123613,8,True,CA12809087,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.597, 'alspac': 0.699, 'dbgap_popfreq': 0.643, 'estonian': 0.669, 'genome_dk': 0.75, 'gnomad': 0.601, 'gonl': 0.721, 'korean': 0.503, 'northernsweden': 0.667, 'qatari': 0.727, 'sgdp_prj': 0.368, 'siberian': 0.35, 'tommo': 0.585, 'topmed': 0.598, 'twinsuk': 0.7, 'vietnamese': 0.643}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.403, 'alspac': 0.301, 'dbgap_popfreq': 0.357, 'estonian': 0.331, 'genome_dk': 0.25, 'gnomad': 0.399, 'gonl': 0.279, 'korean': 0.497, 'northernsweden': 0.333, 'qatari': 0.273, 'sgdp_prj': 0.632, 'siberian': 0.65, 'tommo': 0.415, 'topmed': 0.402, 'twinsuk': 0.3, 'vietnamese': 0.357}}]",G,8,155.0,1135.0,False,cholinergic receptor nicotinic alpha 2 subunit,"[{'hgvs': 'NM_000742.4:c.-136-1421=', 'protein_product': {'refseq': 'NP_000733.2'}, 'refseq': 'NM_000742.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282455.2:c.-136-1421=', 'protein_product': {'refseq': 'NP_001269384.1'}, 'refseq': 'NM_001282455.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347705.2:c.-563-1421=', 'protein_product': {'refseq': 'NP_001334634.1'}, 'refseq': 'NM_001347705.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347706.2:c.-608-1421=', 'protein_product': {'refseq': 'NP_001334635.1'}, 'refseq': 'NM_001347706.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347707.2:c.-549-1421=', 'protein_product': {'refseq': 'NP_001334636.1'}, 'refseq': 'NM_001347707.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001347708.2:c.-597-1421=', 'protein_product': {'refseq': 'NP_001334637.1'}, 'refseq': 'NM_001347708.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011544389.2:c.-594-1421=', 'protein_product': {'refseq': 'XP_011542691.1'}, 'refseq': 'XM_011544389.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,CHRNA2,27472615.0,27472615.0,A,rs2565048,snv,27472615.0,27472615.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,27472615,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,59068.0,25373.0,13534.0,11839.0,280.0,142.0,138.0,4920.0,2169.0,2751.0,751.0,401.0,350.0,2204.0,950.0,1254.0,2973.0,747.0,2226.0,73.0,35.0,38.0,20795.0,12046.0,8749.0,715.0,362.0,353.0,984.0,223.0,761.0,30609.0,28459.0,0.388902,0.61418,0.613286,0.615205,0.30837,0.303419,0.313636,0.322369,0.320384,0.323952,0.216427,0.214898,0.218204,0.425976,0.418502,0.431818,0.281108,0.290888,0.277972,0.231013,0.213415,0.25,0.305989,0.306405,0.305418,0.342105,0.350775,0.333648,0.204319,0.192907,0.207923,0.39406,0.383503,G,G,151884.0,41312.0,22068.0,19244.0,908.0,468.0,440.0,15262.0,6770.0,8492.0,3470.0,1866.0,1604.0,5174.0,2270.0,2904.0,10576.0,2568.0,8008.0,316.0,164.0,152.0,67960.0,39314.0,28646.0,2090.0,1032.0,1058.0,4816.0,1156.0,3660.0,77676.0,74208.0,0.0,59.9922,-0.013,1.0,19.7122,0.371,0.695472,21.5899,8,13073.0,7794.0,4181.0,3613.0,36.0,24.0,12.0,819.0,366.0,453.0,85.0,45.0,40.0,476.0,204.0,272.0,427.0,112.0,315.0,9.0,5.0,4.0,3195.0,1867.0,1328.0,127.0,67.0,60.0,105.0,28.0,77.0,6899.0,6174.0,0.0886267,27472615.0,A,rs2565048,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_000742.3', 'feature_type': 'transcript', 'gene_id': 'CHRNA2', 'genename': 'CHRNA2', 'hgvs_c': 'c.-136-1421T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '6', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282455.1', 'feature_type': 'transcript', 'gene_id': 'CHRNA2', 'genename': 'CHRNA2', 'hgvs_c': 'c.-136-1421T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '6', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2006-03-11T03:49Z,rs7832862,126.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27545260G>T,17.123743,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.841, 'alspac': 0.889, 'dbgap_popfreq': 0.904, 'estonian': 0.86, 'genome_dk': 0.925, 'gonl': 0.919, 'hapmap': 0.846, 'korea1k': 0.83, 'korean': 0.836, 'northernsweden': 0.903, 'qatari': 0.847, 'sgdp_prj': 0.479, 'siberian': 0.464, 'tommo': 0.827, 'topmed': 0.861, 'twinsuk': 0.896, 'vietnamese': 0.84}}, {'allele': 'A', 'freq': {'1000g': 0.159, 'alspac': 0.111, 'dbgap_popfreq': 0.096, 'estonian': 0.14, 'genome_dk': 0.075, 'gonl': 0.081, 'hapmap': 0.154, 'korea1k': 0.17, 'korean': 0.164, 'northernsweden': 0.097, 'qatari': 0.153, 'sgdp_prj': 0.521, 'siberian': 0.536, 'tommo': 0.173, 'topmed': 0.139, 'twinsuk': 0.104, 'vietnamese': 0.16}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,8,155.0,2053.0,False,epoxide hydrolase 2,"[{'hgvs': 'NM_001256482.2:c.*738=', 'protein_product': {'refseq': 'NP_001243411.1'}, 'refseq': 'NM_001256482.2', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'hgvs': 'NM_001256483.2:c.*738=', 'protein_product': {'refseq': 'NP_001243412.1'}, 'refseq': 'NM_001256483.2', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'hgvs': 'NM_001256484.2:c.*738=', 'protein_product': {'refseq': 'NP_001243413.1'}, 'refseq': 'NM_001256484.2', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'hgvs': 'NM_001979.6:c.*738=', 'protein_product': {'refseq': 'NP_001970.2'}, 'refseq': 'NM_001979.6', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'protein_product': {'refseq': 'XP_016868688.1'}, 'refseq': 'XM_017013199.1', 'so': [{'accession': 'SO:0001987', 'name': 'downstream_transcript_variant'}, {'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_016868689.1'}, 'refseq': 'XM_017013200.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_001745491.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,EPHX2,27545260.0,27545260.0,G,rs7341557,snv,27545260.0,27545260.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,27545260,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'distance_to_feature': '338', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001979.5', 'feature_type': 'transcript', 'gene_id': 'EPHX2', 'genename': 'EPHX2', 'hgvs_c': 'c.*738G>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '338', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001256482.1', 'feature_type': 'transcript', 'gene_id': 'EPHX2', 'genename': 'EPHX2', 'hgvs_c': 'c.*738G>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '338', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001256483.1', 'feature_type': 'transcript', 'gene_id': 'EPHX2', 'genename': 'EPHX2', 'hgvs_c': 'c.*738G>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '338', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001256484.1', 'feature_type': 'transcript', 'gene_id': 'EPHX2', 'genename': 'EPHX2', 'hgvs_c': 'c.*738G>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'EPHX2-CLU', 'feature_type': 'intergenic_region', 'gene_id': 'EPHX2-CLU', 'genename': 'EPHX2-CLU', 'hgvs_c': 'n.27545260G>T', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr8:g.27545260G>A,17.123604,8,True,CA174263682,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.841, 'alspac': 0.889, 'dbgap_popfreq': 0.904, 'estonian': 0.86, 'genome_dk': 0.925, 'gonl': 0.919, 'hapmap': 0.846, 'korea1k': 0.83, 'korean': 0.836, 'northernsweden': 0.903, 'qatari': 0.847, 'sgdp_prj': 0.479, 'siberian': 0.464, 'tommo': 0.827, 'topmed': 0.861, 'twinsuk': 0.896, 'vietnamese': 0.84}}, {'allele': 'A', 'freq': {'1000g': 0.159, 'alspac': 0.111, 'dbgap_popfreq': 0.096, 'estonian': 0.14, 'genome_dk': 0.075, 'gonl': 0.081, 'hapmap': 0.154, 'korea1k': 0.17, 'korean': 0.164, 'northernsweden': 0.097, 'qatari': 0.153, 'sgdp_prj': 0.521, 'siberian': 0.536, 'tommo': 0.173, 'topmed': 0.139, 'twinsuk': 0.104, 'vietnamese': 0.16}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'korean': 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+chr8:g.27572989A>C,17.123503,8,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.401, 'alspac': 0.574, 'dbgap_popfreq': 0.515, 'estonian': 0.64, 'genome_dk': 0.4, 'gnomad': 0.46, 'gonl': 0.583, 'hapmap': 0.359, 'korea1k': 0.35, 'korean': 0.362, 'northernsweden': 0.602, 'qatari': 0.417, 'sgdp_prj': 0.267, 'siberian': 0.381, 'tommo': 0.335, 'topmed': 0.446, 'twinsuk': 0.55, 'vietnamese': 0.481}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.599, 'alspac': 0.426, 'dbgap_popfreq': 0.485, 'estonian': 0.36, 'genome_dk': 0.6, 'gnomad': 0.54, 'gonl': 0.417, 'hapmap': 0.641, 'korea1k': 0.65, 'korean': 0.638, 'northernsweden': 0.398, 'qatari': 0.583, 'sgdp_prj': 0.733, 'siberian': 0.619, 'tommo': 0.665, 'topmed': 0.554, 'twinsuk': 0.45, 'vietnamese': 0.519}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",C,8,155.0,2053.0,False,epoxide hydrolase 2,"[{'protein_product': {'refseq': 'NP_001243411.1'}, 'refseq': 'NM_001256482.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_001243412.1'}, 'refseq': 'NM_001256483.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_001243413.1'}, 'refseq': 'NM_001256484.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_001970.2'}, 'refseq': 'NM_001979.6', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_016868688.1'}, 'refseq': 'XM_017013199.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'protein_product': {'refseq': 'XP_016868689.1'}, 'refseq': 'XM_017013200.1', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_001745491.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,EPHX2,27572989.0,27572989.0,A,rs7831810,snv,27572989.0,27572989.0,http://bit.ly/2suyRKt,,,,,intergenic_region,EPHX2-CLU,intergenic_region,EPHX2-CLU,EPHX2-CLU,n.27572989A>C,,,,MODIFIER,,,,C,27572989,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-10-8T04:57Z,rs17466271,123.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr9:g.27482237C>T,17.123878,9,True,CA13027830,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.446, 'alspac': 0.546, 'daghestan': 0.492, 'dbgap_popfreq': 0.528, 'estonian': 0.612, 'genome_dk': 0.75, 'gnomad': 0.506, 'gonl': 0.535, 'hapmap': 0.465, 'hgdp_stanford': 0.442, 'korea1k': 0.364, 'korean': 0.354, 'northernsweden': 0.582, 'prjeb36033': 0.591, 'qatari': 0.403, 'sgdp_prj': 0.312, 'siberian': 0.34, 'tommo': 0.375, 'topmed': 0.488, 'twinsuk': 0.551, 'vietnamese': 0.278}}, {'allele': 'T', 'freq': {'1000g': 0.554, 'alspac': 0.454, 'daghestan': 0.508, 'dbgap_popfreq': 0.472, 'estonian': 0.388, 'genome_dk': 0.25, 'gnomad': 0.494, 'gonl': 0.465, 'hapmap': 0.535, 'hgdp_stanford': 0.558, 'korea1k': 0.636, 'korean': 0.646, 'northernsweden': 0.418, 'prjeb36033': 0.409, 'qatari': 0.597, 'sgdp_prj': 0.688, 'siberian': 0.66, 'tommo': 0.625, 'topmed': 0.512, 'twinsuk': 0.449, 'vietnamese': 0.722}}]",T,9,155.0,79817.0,False,MOB kinase activator 3B,"[{'hgvs': 'NM_024761.5:c.-198-26489=', 'protein_product': {'refseq': 'NP_079037.3'}, 'refseq': 'NM_024761.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,MOB3B,27482237.0,27482237.0,C,rs4879515,snv,27482237.0,27482237.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_024761.4,transcript,MOB3B,MOB3B,c.-198-26489G>A,,,,MODIFIER,1,3,protein_coding,T,27482237,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,75522.0,21640.0,11586.0,10054.0,545.0,283.0,262.0,8751.0,3832.0,4919.0,1550.0,822.0,728.0,3399.0,1491.0,1908.0,4688.0,1121.0,3567.0,165.0,79.0,86.0,31094.0,17957.0,13137.0,1089.0,547.0,542.0,2601.0,598.0,2003.0,38316.0,37206.0,0.497608,0.52453,0.525585,0.523319,0.598901,0.602128,0.595455,0.573385,0.565525,0.579661,0.44746,0.440514,0.455569,0.656431,0.657407,0.65567,0.445712,0.436867,0.448566,0.525478,0.487654,0.565789,0.457547,0.456712,0.458694,0.521053,0.531068,0.511321,0.539627,0.51463,0.547567,0.493369,0.502051,T,T,151770.0,41256.0,22044.0,19212.0,910.0,470.0,440.0,15262.0,6776.0,8486.0,3464.0,1866.0,1598.0,5178.0,2268.0,2910.0,10518.0,2566.0,7952.0,314.0,162.0,152.0,67958.0,39318.0,28640.0,2090.0,1030.0,1060.0,4820.0,1162.0,3658.0,77662.0,74108.0,0.0,59.9956,-0.024,1.0,20.5763,0.0,0.691446,14.0531,9,19119.0,5670.0,3080.0,2590.0,155.0,80.0,75.0,2528.0,1091.0,1437.0,350.0,185.0,165.0,1123.0,490.0,633.0,1009.0,227.0,782.0,46.0,22.0,24.0,7223.0,4191.0,3032.0,282.0,141.0,141.0,733.0,155.0,578.0,9662.0,9457.0,0.0181225,27482237.0,C,rs4879515,snp,"[20801717, 22459598, 25933217, 30685122]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T06:02Z', 'rsid': 'rs17769002', 'rv': 123}, {'date': '2008-05-25T20:41Z', 'rsid': 'rs59983278', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27491944T>C,17.123457,9,True,CA191891238,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.996, 'alspac': 0.989, 'dbgap_popfreq': 0.988, 'estonian': 0.981, 'genome_dk': 0.975, 'gnomad': 0.991, 'gonl': 0.987, 'korea1k': 0.999, 'korean': 1.0, 'northernsweden': 0.978, 'qatari': 0.991, 'topmed': 0.992, 'twinsuk': 0.985}}, {'allele': 'C', 'freq': {'1000g': 0.004, 'alspac': 0.011, 'dbgap_popfreq': 0.012, 'estonian': 0.019, 'genome_dk': 0.025, 'gnomad': 0.009, 'gonl': 0.013, 'korea1k': 0.001, 'korean': 0.0, 'northernsweden': 0.022, 'qatari': 0.009, 'topmed': 0.008, 'twinsuk': 0.015}}]",C,9,155.0,79817.0,False,MOB kinase activator 3B,"[{'hgvs': 'NM_024761.5:c.-198-36196=', 'protein_product': {'refseq': 'NP_079037.3'}, 'refseq': 'NM_024761.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,MOB3B,27491944.0,27491944.0,T,rs139185008,snv,27491944.0,27491944.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_024761.4,transcript,MOB3B,MOB3B,c.-198-36196A>G,,,,MODIFIER,1,3,protein_coding,C,27491944,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1386.0,85.0,44.0,41.0,114.0,61.0,53.0,40.0,18.0,22.0,7.0,3.0,4.0,1.0,1.0,0.0,198.0,42.0,156.0,0.0,0.0,0.0,904.0,513.0,391.0,17.0,10.0,7.0,20.0,5.0,15.0,697.0,689.0,0.00910488,0.00205027,0.00198538,0.00212479,0.125,0.129787,0.11991,0.00261643,0.00265096,0.00258884,0.00201613,0.001606,0.00249377,0.000192234,0.000438596,0.0,0.018637,0.016317,0.0193789,0.0,0.0,0.0,0.0132883,0.0130362,0.0136341,0.00813397,0.00970874,0.00660377,0.00413736,0.00430293,0.00408497,0.00895288,0.00926399,C,C,152226.0,41458.0,22162.0,19296.0,912.0,470.0,442.0,15288.0,6790.0,8498.0,3472.0,1868.0,1604.0,5202.0,2280.0,2922.0,10624.0,2574.0,8050.0,316.0,164.0,152.0,68030.0,39352.0,28678.0,2090.0,1030.0,1060.0,4834.0,1162.0,3672.0,77852.0,74374.0,0.0,59.991,-0.072,1.0,13.8997,0.361,0.684054,20.2377,9,17.0,1.0,1.0,0.0,9.0,3.0,6.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,4.0,1.0,3.0,0.0,0.0,0.0,3.0,2.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,7.0,10.0,0.0155713,27491944.0,T,rs139185008,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27511286T>G,17.123444,9,True,CA13027847,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.683, 'alspac': 0.73, 'dbgap_popfreq': 0.718, 'estonian': 0.771, 'genome_dk': 0.825, 'gnomad': 0.709, 'gonl': 0.703, 'hapmap': 0.803, 'korea1k': 0.733, 'korean': 0.728, 'northernsweden': 0.763, 'qatari': 0.579, 'sgdp_prj': 0.43, 'siberian': 0.464, 'tommo': 0.736, 'topmed': 0.697, 'twinsuk': 0.722}}, {'allele': 'G', 'freq': {'1000g': 0.317, 'alspac': 0.27, 'dbgap_popfreq': 0.282, 'estonian': 0.229, 'genome_dk': 0.175, 'gnomad': 0.291, 'gonl': 0.297, 'hapmap': 0.197, 'korea1k': 0.267, 'korean': 0.272, 'northernsweden': 0.237, 'qatari': 0.421, 'sgdp_prj': 0.57, 'siberian': 0.536, 'tommo': 0.264, 'topmed': 0.303, 'twinsuk': 0.278}}]",G,9,155.0,79817.0,False,MOB kinase activator 3B,"[{'hgvs': 'NM_024761.5:c.-199+18269=', 'protein_product': {'refseq': 'NP_079037.3'}, 'refseq': 'NM_024761.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,MOB3B,27511286.0,27511286.0,T,rs2484314,snv,27511286.0,27511286.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_024761.4,transcript,MOB3B,MOB3B,c.-199+18269A>C,,,,MODIFIER,1,3,protein_coding,G,27511286,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,44326.0,13254.0,7019.0,6235.0,287.0,153.0,134.0,4935.0,2226.0,2709.0,822.0,435.0,387.0,1753.0,781.0,972.0,2268.0,563.0,1705.0,114.0,63.0,51.0,18743.0,10771.0,7972.0,598.0,316.0,282.0,1552.0,339.0,1213.0,22666.0,21660.0,0.291876,0.320873,0.317918,0.324267,0.314693,0.325532,0.303167,0.323225,0.328415,0.319081,0.237161,0.233119,0.241875,0.338548,0.343146,0.334941,0.215139,0.219579,0.213713,0.360759,0.384146,0.335526,0.275778,0.273876,0.278391,0.286948,0.306796,0.267552,0.321325,0.290738,0.331059,0.291637,0.292126,G,G,151866.0,41306.0,22078.0,19228.0,912.0,470.0,442.0,15268.0,6778.0,8490.0,3466.0,1866.0,1600.0,5178.0,2276.0,2902.0,10542.0,2564.0,7978.0,316.0,164.0,152.0,67964.0,39328.0,28636.0,2084.0,1030.0,1054.0,4830.0,1166.0,3664.0,77720.0,74146.0,0.0,59.9941,-0.013,1.0,17.7933,0.04,0.684319,15.6047,9,6596.0,2148.0,1119.0,1029.0,42.0,22.0,20.0,831.0,385.0,446.0,110.0,60.0,50.0,291.0,133.0,158.0,241.0,64.0,177.0,15.0,8.0,7.0,2572.0,1462.0,1110.0,91.0,42.0,49.0,255.0,45.0,210.0,3340.0,3256.0,0.00890219,27511286.0,T,rs2484314,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-25T07:32Z,rs59070231,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27543631A>G,17.12324,9,True,CA191356647,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.997, 'alspac': 0.992, 'dbgap_popfreq': 0.992, 'estonian': 0.997, 'gnomad': 0.992, 'gonl': 0.988, 'northernsweden': 0.995, 'topmed': 0.992, 'twinsuk': 0.988}}, {'allele': 'G', 'freq': {'1000g': 0.003, 'alspac': 0.008, 'dbgap_popfreq': 0.008, 'estonian': 0.003, 'gnomad': 0.008, 'gonl': 0.012, 'northernsweden': 0.005, 'topmed': 0.008, 'twinsuk': 0.012}}]",G,9,155.0,107987057.0,False,uncharacterized LOC107987057,"[{'codon_aligned_transcript_change': {'deleted_sequence': 'T', 'inserted_sequence': 'T', 'position': 513, 'seq_id': 'XR_001746639.2'}, 'hgvs': 'XR_001746639.2:n.514=', 'refseq': 'XR_001746639.2', 'so': [{'accession': 'SO:0001619', 'name': 'non_coding_transcript_variant'}]}]",-,LOC107987057,27543631.0,27543631.0,A,rs147599399,snv,27543631.0,27543631.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,27543631,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1134.0,91.0,44.0,47.0,22.0,12.0,10.0,127.0,56.0,71.0,62.0,34.0,28.0,0.0,0.0,0.0,12.0,6.0,6.0,0.0,0.0,0.0,793.0,474.0,319.0,23.0,14.0,9.0,4.0,1.0,3.0,641.0,493.0,0.00745425,0.00219679,0.00198681,0.00243801,0.0241228,0.0255319,0.0226244,0.00831805,0.00826202,0.00836278,0.0178777,0.0182403,0.0174564,0.0,0.0,0.0,0.00113165,0.00233281,0.000747012,0.0,0.0,0.0,0.0116583,0.0120482,0.0111235,0.0110153,0.0135659,0.00852273,0.000827472,0.000857633,0.000817884,0.00823738,0.00663419,G,G,152128.0,41424.0,22146.0,19278.0,912.0,470.0,442.0,15268.0,6778.0,8490.0,3468.0,1864.0,1604.0,5194.0,2282.0,2912.0,10604.0,2572.0,8032.0,316.0,164.0,152.0,68020.0,39342.0,28678.0,2088.0,1032.0,1056.0,4834.0,1166.0,3668.0,77816.0,74312.0,0.0,59.9959,-0.015,1.0,13.6442,0.062,0.709108,16.3737,9,6.0,1.0,0.0,1.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,4.0,1.0,3.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,5.0,0.00314164,27543631.0,A,rs147599399,snp,,"[{'distance_to_feature': '2915', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001256054.2', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.*4605T>C', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '2915', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_018325.4', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.*4605T>C', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'MOB3B-C9orf72', 'feature_type': 'intergenic_region', 'gene_id': 'MOB3B-C9orf72', 'genename': 'MOB3B-C9orf72', 'hgvs_c': 'n.27543631A>G', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27558439T>C,17.123613,9,True,CA191371426,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.984, 'alspac': 0.964, 'daghestan': 0.969, 'dbgap_popfreq': 0.971, 'estonian': 0.958, 'finrisk': 0.954, 'genome_dk': 0.975, 'gnomad': 0.975, 'goesp': 0.971, 'gonl': 0.963, 'korea1k': 0.999, 'korean': 1.0, 'mgp': 0.983, 'northernsweden': 0.942, 'qatari': 0.981, 'sgdp_prj': 0.5, 'topmed': 0.98, 'twinsuk': 0.965}}, {'allele': 'C', 'freq': {'1000g': 0.016, 'alspac': 0.036, 'daghestan': 0.031, 'dbgap_popfreq': 0.029, 'estonian': 0.042, 'finrisk': 0.046, 'genome_dk': 0.025, 'gnomad': 0.025, 'goesp': 0.029, 'gonl': 0.037, 'korea1k': 0.001, 'korean': 0.0, 'mgp': 0.017, 'northernsweden': 0.058, 'qatari': 0.019, 'sgdp_prj': 0.5, 'topmed': 0.02, 'twinsuk': 0.035}}]",C,9,155.0,203228.0,False,C9orf72-SMCR8 complex subunit,"[{'hgvs': 'NM_001256054.3:c.855+52=', 'protein_product': {'refseq': 'NP_001242983.1'}, 'refseq': 'NM_001256054.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_018325.5:c.855+52=', 'protein_product': {'refseq': 'NP_060795.1'}, 'refseq': 'NM_018325.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'NP_659442.2'}, 'refseq': 'NM_145005.7', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}]",-,C9orf72,27558439.0,27558439.0,T,rs17696570,snv,27558439.0,27558439.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,27558439,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2QAcvkh,18.0,,164.0,,146.0,,C,61.0,T,9.0,1446,0.6,0.0,123.0,,PASS,intron,,,0.0,,,4.0,,,4.0,,,,27558437.0,27558437.0,27558439.0,27558439.0,c.855+52A>G,,1.0297,2.8621,3.6665,no,u,n,T,T,rs17696570,http://bit.ly/2I1cl1I,3747.0,232.0,128.0,104.0,139.0,74.0,65.0,167.0,74.0,93.0,37.0,14.0,23.0,11.0,6.0,5.0,684.0,153.0,531.0,4.0,2.0,2.0,2328.0,1359.0,969.0,36.0,26.0,10.0,109.0,25.0,84.0,1861.0,1886.0,0.0246555,0.00560143,0.00578348,0.00539251,0.152747,0.157447,0.147727,0.0109594,0.0109306,0.0109825,0.0106628,0.00750268,0.0143392,0.00211946,0.0026362,0.00171585,0.0645648,0.0598124,0.0660777,0.0126582,0.0121951,0.0131579,0.0342746,0.0345766,0.0338598,0.0172745,0.0253411,0.0094518,0.0225579,0.0215146,0.0228883,0.0239425,0.025402,C,C,151974.0,41418.0,22132.0,19286.0,910.0,470.0,440.0,15238.0,6770.0,8468.0,3470.0,1866.0,1604.0,5190.0,2276.0,2914.0,10594.0,2558.0,8036.0,316.0,164.0,152.0,67922.0,39304.0,28618.0,2084.0,1026.0,1058.0,4832.0,1162.0,3670.0,77728.0,74246.0,0.0,59.9974,-0.041,1.0,13.7797,0.368,0.714084,21.7998,9,84.0,2.0,2.0,0.0,9.0,4.0,5.0,2.0,0.0,2.0,0.0,0.0,0.0,0.0,0.0,0.0,24.0,5.0,19.0,0.0,0.0,0.0,46.0,23.0,23.0,0.0,0.0,0.0,1.0,0.0,1.0,34.0,50.0,0.0219731,27558439.0,T,rs17696570,snp,,"[{'distance_to_feature': '1985', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_145005.6', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.*3142A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001256054.2', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.855+52A>G', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_018325.4', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.855+52A>G', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,1730.0,5566.0,3836.0,,"[{'accession': 'NM_018325.3', 'symbol': 'C9orf72'}, {'accession': 'NM_001256054.1', 'symbol': 'C9orf72'}]",18.0,856.0,156.0,2705.0,138.0,1849.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27560596T>C,17.123943,9,True,CA15594302,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.563, 'alspac': 0.497, 'daghestan': 0.578, 'dbgap_popfreq': 0.515, 'estonian': 0.464, 'genome_dk': 0.4, 'gnomad': 0.541, 'gonl': 0.495, 'hapmap': 0.572, 'korea1k': 0.617, 'korean': 0.637, 'northernsweden': 0.412, 'page_study': 0.583, 'prjeb36033': 0.2, 'prjeb37584': 0.57, 'qatari': 0.727, 'sgdp_prj': 0.337, 'siberian': 0.361, 'tommo': 0.683, 'topmed': 0.552, 'twinsuk': 0.51, 'vietnamese': 0.547}}, {'allele': 'C', 'freq': {'1000g': 0.437, 'alspac': 0.503, 'daghestan': 0.422, 'dbgap_popfreq': 0.485, 'estonian': 0.536, 'genome_dk': 0.6, 'gnomad': 0.459, 'gonl': 0.505, 'hapmap': 0.428, 'korea1k': 0.383, 'korean': 0.363, 'northernsweden': 0.588, 'page_study': 0.417, 'prjeb36033': 0.8, 'prjeb37584': 0.43, 'qatari': 0.273, 'sgdp_prj': 0.663, 'siberian': 0.639, 'tommo': 0.317, 'topmed': 0.448, 'twinsuk': 0.49, 'vietnamese': 0.453}}]",C,9,155.0,203228.0,False,C9orf72-SMCR8 complex subunit,"[{'hgvs': 'NM_001256054.3:c.666-297=', 'protein_product': {'refseq': 'NP_001242983.1'}, 'refseq': 'NM_001256054.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_018325.5:c.666-297=', 'protein_product': {'refseq': 'NP_060795.1'}, 'refseq': 'NM_018325.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_145005.7:c.*985=', 'protein_product': {'refseq': 'NP_659442.2'}, 'refseq': 'NM_145005.7', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}]",-,C9orf72,27560596.0,27560596.0,T,rs3849944,snv,27560596.0,27560596.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,27560596,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,69660.0,15820.0,8479.0,7341.0,361.0,181.0,180.0,6817.0,3088.0,3729.0,1439.0,791.0,648.0,2174.0,970.0,1204.0,5850.0,1437.0,4413.0,123.0,66.0,57.0,33764.0,19699.0,14065.0,900.0,424.0,476.0,2412.0,582.0,1830.0,35717.0,33943.0,0.459347,0.383125,0.384152,0.381946,0.397577,0.386752,0.409091,0.448192,0.45694,0.441197,0.415656,0.424812,0.405,0.419691,0.427313,0.413746,0.554292,0.560452,0.552315,0.389241,0.402439,0.375,0.497656,0.501451,0.492438,0.434363,0.417323,0.450758,0.501455,0.50346,0.500821,0.460188,0.458466,C,C,151650.0,41292.0,22072.0,19220.0,908.0,468.0,440.0,15210.0,6758.0,8452.0,3462.0,1862.0,1600.0,5180.0,2270.0,2910.0,10554.0,2564.0,7990.0,316.0,164.0,152.0,67846.0,39284.0,28562.0,2072.0,1016.0,1056.0,4810.0,1156.0,3654.0,77614.0,74036.0,9.64327e-16,59.9971,-0.032,1.0,19.554,0.337,0.698055,22.8924,9,16290.0,3033.0,1626.0,1407.0,74.0,36.0,38.0,1538.0,718.0,820.0,290.0,164.0,126.0,432.0,201.0,231.0,1649.0,405.0,1244.0,30.0,19.0,11.0,8409.0,4960.0,3449.0,200.0,94.0,106.0,635.0,150.0,485.0,8373.0,7917.0,0.016346,27560596.0,T,rs3849944,snp,"[17903293, 20706608]","[{'distance_to_feature': '985', 'effect': '3_prime_UTR_variant', 'feature_id': 'NM_145005.6', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.*985A>G', 'putative_impact': 'MODIFIER', 'rank': '5', 'total': '5', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001256054.2', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.666-297A>G', 'putative_impact': 'MODIFIER', 'rank': '5', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_018325.4', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.666-297A>G', 'putative_impact': 'MODIFIER', 'rank': '5', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2004-10-8T06:03Z,rs17696605,123.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr9:g.27569190T>C,17.123728,9,True,CA191380112,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.569, 'alspac': 0.562, 'dbgap_popfreq': 0.594, 'estonian': 0.543, 'genome_dk': 0.55, 'gnomad': 0.617, 'gonl': 0.536, 'korea1k': 0.282, 'korean': 0.284, 'northernsweden': 0.545, 'qatari': 0.69, 'sgdp_prj': 0.296, 'siberian': 0.32, 'tommo': 0.323, 'topmed': 0.609, 'twinsuk': 0.565, 'vietnamese': 0.341}}, {'allele': 'C', 'freq': {'1000g': 0.431, 'alspac': 0.438, 'dbgap_popfreq': 0.406, 'estonian': 0.457, 'genome_dk': 0.45, 'gnomad': 0.383, 'gonl': 0.464, 'korea1k': 0.718, 'korean': 0.716, 'northernsweden': 0.455, 'qatari': 0.31, 'sgdp_prj': 0.704, 'siberian': 0.68, 'tommo': 0.677, 'topmed': 0.391, 'twinsuk': 0.435, 'vietnamese': 0.659}}]",C,9,155.0,203228.0,False,C9orf72-SMCR8 complex subunit,"[{'hgvs': 'NM_001256054.3:c.-44-2026=', 'protein_product': {'refseq': 'NP_001242983.1'}, 'refseq': 'NM_001256054.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_018325.5:c.-44-2026=', 'protein_product': {'refseq': 'NP_060795.1'}, 'refseq': 'NM_018325.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_145005.7:c.-44-2026=', 'protein_product': {'refseq': 'NP_659442.2'}, 'refseq': 'NM_145005.7', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,C9orf72,27569190.0,27569190.0,T,rs10812619,snv,27569190.0,27569190.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,27569190,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,60015.0,6144.0,3287.0,2857.0,486.0,242.0,244.0,8513.0,3755.0,4758.0,1737.0,952.0,785.0,3506.0,1519.0,1987.0,5891.0,1417.0,4474.0,137.0,68.0,69.0,30298.0,17463.0,12835.0,886.0,436.0,450.0,2417.0,566.0,1851.0,29705.0,30310.0,0.39495,0.148406,0.148545,0.148246,0.534066,0.514894,0.554545,0.557352,0.553835,0.56016,0.500288,0.509636,0.489401,0.67501,0.666228,0.681881,0.558812,0.558314,0.558971,0.433544,0.414634,0.453947,0.445979,0.444329,0.448243,0.423923,0.422481,0.425331,0.501244,0.487931,0.505461,0.382196,0.408303,C,C,151956.0,41400.0,22128.0,19272.0,910.0,470.0,440.0,15274.0,6780.0,8494.0,3472.0,1868.0,1604.0,5194.0,2280.0,2914.0,10542.0,2538.0,8004.0,316.0,164.0,152.0,67936.0,39302.0,28634.0,2090.0,1032.0,1058.0,4822.0,1160.0,3662.0,77722.0,74234.0,9.64327e-16,59.9925,0.0,1.0,19.2485,0.387,0.696072,20.9727,9,13953.0,489.0,276.0,213.0,115.0,55.0,60.0,2430.0,1062.0,1368.0,433.0,247.0,186.0,1188.0,506.0,682.0,1638.0,398.0,1240.0,27.0,10.0,17.0,6795.0,3850.0,2945.0,196.0,99.0,97.0,642.0,151.0,491.0,6654.0,7299.0,0.116223,27569190.0,T,rs10812619,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001256054.2', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.-44-2026A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_018325.4', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.-44-2026A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_145005.6', 'feature_type': 'transcript', 'gene_id': 'C9orf72', 'genename': 'C9orf72', 'hgvs_c': 'c.-44-2026A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '4', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr9:g.27584061G>C,17.123518,9,True,CA12984187,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.929, 'alspac': 0.898, 'dbgap_popfreq': 0.911, 'estonian': 0.891, 'genome_dk': 0.925, 'gnomad': 0.927, 'gonl': 0.892, 'korea1k': 0.879, 'korean': 0.868, 'northernsweden': 0.933, 'qatari': 0.875, 'sgdp_prj': 0.467, 'siberian': 0.5, 'tommo': 0.872, 'topmed': 0.929, 'twinsuk': 0.895, 'vietnamese': 0.921}}, {'allele': 'C', 'freq': {'1000g': 0.071, 'alspac': 0.102, 'dbgap_popfreq': 0.089, 'estonian': 0.109, 'genome_dk': 0.075, 'gnomad': 0.073, 'gonl': 0.108, 'korea1k': 0.121, 'korean': 0.132, 'northernsweden': 0.067, 'qatari': 0.125, 'sgdp_prj': 0.533, 'siberian': 0.5, 'tommo': 0.128, 'topmed': 0.071, 'twinsuk': 0.105, 'vietnamese': 0.079}}]",C,9,155.0,,,,,,,27584061.0,27584061.0,G,rs34555425,snv,27584061.0,27584061.0,http://bit.ly/2suyRKt,,,,,intergenic_region,C9orf72-LINGO2,intergenic_region,C9orf72-LINGO2,C9orf72-LINGO2,n.27584061G>C,,,,MODIFIER,,,,C,27584061,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,11528.0,833.0,427.0,406.0,41.0,29.0,12.0,1069.0,463.0,606.0,314.0,167.0,147.0,563.0,257.0,306.0,802.0,184.0,618.0,29.0,16.0,13.0,7151.0,4159.0,2992.0,175.0,82.0,93.0,551.0,136.0,415.0,5920.0,5608.0,0.0758112,0.0201081,0.0192864,0.0210515,0.0449561,0.0617021,0.0271493,0.0700065,0.0682891,0.0713781,0.0906467,0.0895923,0.091875,0.108603,0.112818,0.105299,0.0757318,0.0715397,0.0770766,0.0917722,0.097561,0.0855263,0.10519,0.105762,0.104404,0.0837321,0.0794574,0.0879017,0.114126,0.116838,0.113264,0.0761043,0.0755042,C,C,152062.0,41426.0,22140.0,19286.0,912.0,470.0,442.0,15270.0,6780.0,8490.0,3464.0,1864.0,1600.0,5184.0,2278.0,2906.0,10590.0,2572.0,8018.0,316.0,164.0,152.0,67982.0,39324.0,28658.0,2090.0,1032.0,1058.0,4828.0,1164.0,3664.0,77788.0,74274.0,0.0,59.9973,-0.015,1.0,14.6753,0.373,0.704272,22.1608,9,571.0,13.0,6.0,7.0,1.0,1.0,0.0,44.0,19.0,25.0,16.0,9.0,7.0,32.0,17.0,15.0,27.0,9.0,18.0,1.0,0.0,1.0,379.0,228.0,151.0,12.0,5.0,7.0,46.0,15.0,31.0,309.0,262.0,0.0254647,27584061.0,G,rs34555425,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr11:g.47395632A>C,17.12324,11,True,CA13416660,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.675, 'alspac': 0.613, 'dbgap_popfreq': 0.652, 'estonian': 0.647, 'genome_dk': 0.6, 'gnomad': 0.687, 'gonl': 0.614, 'korean': 0.786, 'northernsweden': 0.717, 'qatari': 0.685, 'sgdp_prj': 0.384, 'siberian': 0.433, 'tommo': 0.817, 'topmed': 0.688, 'twinsuk': 0.614, 'vietnamese': 0.542}}, {'allele': 'C', 'freq': {'1000g': 0.325, 'alspac': 0.387, 'dbgap_popfreq': 0.348, 'estonian': 0.353, 'genome_dk': 0.4, 'gnomad': 0.313, 'gonl': 0.386, 'korean': 0.214, 'northernsweden': 0.283, 'qatari': 0.315, 'sgdp_prj': 0.616, 'siberian': 0.567, 'tommo': 0.183, 'topmed': 0.312, 'twinsuk': 0.386, 'vietnamese': 0.458}}]",C,11,155.0,6688.0,False,Spi-1 proto-oncogene,"[{'protein_product': {'refseq': 'NP_001074016.1'}, 'refseq': 'NM_001080547.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'protein_product': {'refseq': 'NP_003111.2'}, 'refseq': 'NM_003120.3', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_011520307.1:c.-1921=', 'protein_product': {'refseq': 'XP_011518609.1'}, 'refseq': 'XM_011520307.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}, {'hgvs': 'XM_017018173.1:c.-1924=', 'protein_product': {'refseq': 'XP_016873662.1'}, 'refseq': 'XM_017018173.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}]",-,SPI1,47395632.0,47395632.0,A,rs10769263,snv,47395632.0,47395632.0,http://bit.ly/2suyRKt,,,,,intergenic_region,SPI1-MIR4487,intergenic_region,SPI1-MIR4487,SPI1-MIR4487,n.47395632A>C,,,,MODIFIER,,,,C,47395632,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,48605.0,8109.0,4358.0,3751.0,291.0,157.0,134.0,4425.0,1965.0,2460.0,1430.0,782.0,648.0,1766.0,804.0,962.0,3046.0,742.0,2304.0,98.0,49.0,49.0,26414.0,15307.0,11107.0,750.0,386.0,364.0,2276.0,563.0,1713.0,25113.0,23492.0,0.319694,0.195879,0.197034,0.194554,0.319079,0.334043,0.303167,0.289822,0.289823,0.289821,0.412104,0.419078,0.40399,0.341322,0.354497,0.331039,0.287521,0.288716,0.287139,0.312102,0.302469,0.322368,0.388498,0.389135,0.387625,0.358509,0.374031,0.343396,0.471808,0.484509,0.467777,0.322939,0.316297,C,C,152036.0,41398.0,22118.0,19280.0,912.0,470.0,442.0,15268.0,6780.0,8488.0,3470.0,1866.0,1604.0,5174.0,2268.0,2906.0,10594.0,2570.0,8024.0,314.0,162.0,152.0,67990.0,39336.0,28654.0,2092.0,1032.0,1060.0,4824.0,1162.0,3662.0,77764.0,74272.0,9.64327e-16,59.9958,-0.023,1.0,17.762,0.381,0.688504,22.3074,11,8455.0,806.0,434.0,372.0,42.0,24.0,18.0,655.0,275.0,380.0,304.0,173.0,131.0,347.0,164.0,183.0,433.0,109.0,324.0,14.0,7.0,7.0,5172.0,2988.0,2184.0,137.0,76.0,61.0,545.0,140.0,405.0,4390.0,4065.0,0.0419328,47395632.0,A,rs10769263,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr11:g.121564878T>A,17.1237,11,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.891, 'alspac': 0.961, 'chileans': 0.938, 'dbgap_popfreq': 0.973, 'estonian': 0.964, 'genome_dk': 0.925, 'gonl': 0.957, 'hapmap': 0.856, 'korea1k': 0.694, 'korean': 0.69, 'northernsweden': 0.962, 'page_study': 0.894, 'prjeb36033': 1.0, 'prjeb37584': 0.714, 'qatari': 0.917, 'sgdp_prj': 0.473, 'siberian': 0.5, 'tommo': 0.649, 'topmed': 0.931, 'twinsuk': 0.964}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'topmed': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.109, 'alspac': 0.039, 'chileans': 0.062, 'dbgap_popfreq': 0.027, 'estonian': 0.036, 'genome_dk': 0.075, 'gonl': 0.043, 'hapmap': 0.144, 'korea1k': 0.306, 'korean': 0.31, 'northernsweden': 0.038, 'page_study': 0.106, 'prjeb36033': 0.0, 'prjeb37584': 0.286, 'qatari': 0.083, 'sgdp_prj': 0.527, 'siberian': 0.5, 'tommo': 0.351, 'topmed': 0.069, 'twinsuk': 0.036}}]",A,11,155.0,6653.0,False,sortilin related receptor 1,"[{'hgvs': 'NM_003105.6:c.3050-2062=', 'protein_product': {'refseq': 'NP_003096.2'}, 'refseq': 'NM_003105.6', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,SORL1,121564878.0,121564878.0,T,rs11218343,snv,121564878.0,121564878.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_003105.5,transcript,SORL1,SORL1,c.3050-2062T>A,,,,MODIFIER,21,47,protein_coding,A,121564878,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1.0,1.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,6.57393e-06,2.41523e-05,4.5212e-05,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.28528e-05,0.0,A,A,152116.0,41404.0,22118.0,19286.0,912.0,470.0,442.0,15268.0,6780.0,8488.0,3470.0,1868.0,1602.0,5196.0,2280.0,2916.0,10606.0,2572.0,8034.0,316.0,164.0,152.0,68018.0,39354.0,28664.0,2092.0,1032.0,1060.0,4834.0,1166.0,3668.0,77804.0,74312.0,,59.9197,-1.327,0.336784,19.4085,0.849,0.633714,-0.415,11,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-6.55651e-06,121564878.0,T,rs11218343,snp,"[19118814, 24443964, 24495969, 25108264, 25188341, 25668194, 26680604, 26732597, 26919393, 26993346, 27313629, 27340842, 27453991, 27638701, 28549481, 29927411, 30412497, 32775599]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-27T02:24Z', 'rsid': 'rs61442509', 'rv': 130}, {'date': '2009-02-27T16:25Z', 'rsid': 'rs61703846', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs111170921', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr11:g.121564878T>C,17.123325,11,True,CA229908237,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.891, 'alspac': 0.961, 'chileans': 0.938, 'dbgap_popfreq': 0.973, 'estonian': 0.964, 'genome_dk': 0.925, 'gonl': 0.957, 'hapmap': 0.856, 'korea1k': 0.694, 'korean': 0.69, 'northernsweden': 0.962, 'page_study': 0.894, 'prjeb36033': 1.0, 'prjeb37584': 0.714, 'qatari': 0.917, 'sgdp_prj': 0.473, 'siberian': 0.5, 'tommo': 0.649, 'topmed': 0.931, 'twinsuk': 0.964}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'topmed': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.109, 'alspac': 0.039, 'chileans': 0.062, 'dbgap_popfreq': 0.027, 'estonian': 0.036, 'genome_dk': 0.075, 'gonl': 0.043, 'hapmap': 0.144, 'korea1k': 0.306, 'korean': 0.31, 'northernsweden': 0.038, 'page_study': 0.106, 'prjeb36033': 0.0, 'prjeb37584': 0.286, 'qatari': 0.083, 'sgdp_prj': 0.527, 'siberian': 0.5, 'tommo': 0.351, 'topmed': 0.069, 'twinsuk': 0.036}}]",C,11,155.0,6653.0,False,sortilin related receptor 1,"[{'hgvs': 'NM_003105.6:c.3050-2062=', 'protein_product': {'refseq': 'NP_003096.2'}, 'refseq': 'NM_003105.6', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,SORL1,121564878.0,121564878.0,T,rs11218343,snv,121564878.0,121564878.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_003105.5,transcript,SORL1,SORL1,c.3050-2062T>C,,,,MODIFIER,21,47,protein_coding,C,121564878,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,9561.0,3315.0,1757.0,1558.0,9.0,6.0,3.0,1051.0,462.0,589.0,222.0,117.0,105.0,1552.0,683.0,869.0,264.0,70.0,194.0,23.0,11.0,12.0,2653.0,1567.0,1086.0,117.0,61.0,56.0,355.0,94.0,261.0,4828.0,4733.0,0.0628575,0.0800763,0.0794519,0.0807924,0.00986842,0.012766,0.00678733,0.0688368,0.0681416,0.0693921,0.0639769,0.0626338,0.0655431,0.298921,0.299824,0.298216,0.0248916,0.0272162,0.0241474,0.0727848,0.0670732,0.0789474,0.0390044,0.0398181,0.0378872,0.0559273,0.0591085,0.0528302,0.0734381,0.0806175,0.0711559,0.0620582,0.0636944,C,C,152106.0,41398.0,22114.0,19284.0,912.0,470.0,442.0,15268.0,6780.0,8488.0,3470.0,1868.0,1602.0,5192.0,2278.0,2914.0,10606.0,2572.0,8034.0,316.0,164.0,152.0,68018.0,39354.0,28664.0,2092.0,1032.0,1060.0,4834.0,1166.0,3668.0,77798.0,74308.0,0.518929,59.9847,-0.015,1.0,14.585,0.392,0.6709,7.2568,11,468.0,138.0,63.0,75.0,0.0,0.0,0.0,31.0,13.0,18.0,8.0,6.0,2.0,225.0,98.0,127.0,2.0,1.0,1.0,0.0,0.0,0.0,50.0,31.0,19.0,4.0,0.0,4.0,10.0,3.0,7.0,215.0,253.0,0.0379905,121564878.0,T,rs11218343,snp,"[19118814, 24443964, 24495969, 25108264, 25188341, 25668194, 26680604, 26732597, 26919393, 26993346, 27313629, 27340842, 27453991, 27638701, 28549481, 29927411, 30412497, 32775599]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-27T02:24Z', 'rsid': 'rs61442509', 'rv': 130}, {'date': '2009-02-27T16:25Z', 'rsid': 'rs61703846', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs111170921', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr11:g.133902943T>C,17.12369,11,True,CA13404332,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.832, 'alspac': 0.742, 'chileans': 0.816, 'dbgap_popfreq': 0.756, 'estonian': 0.888, 'genome_dk': 0.825, 'gnomad': 0.81, 'gonl': 0.748, 'hapmap': 0.825, 'hgdp_stanford': 0.812, 'korea1k': 0.871, 'korean': 0.893, 'northernsweden': 0.81, 'prjeb36033': 0.581, 'qatari': 0.718, 'sgdp_prj': 0.418, 'siberian': 0.333, 'tommo': 0.916, 'topmed': 0.803, 'twinsuk': 0.748, 'vietnamese': 0.855}}, {'allele': 'C', 'freq': {'1000g': 0.168, 'alspac': 0.258, 'chileans': 0.184, 'dbgap_popfreq': 0.244, 'estonian': 0.112, 'genome_dk': 0.175, 'gnomad': 0.19, 'gonl': 0.252, 'hapmap': 0.175, 'hgdp_stanford': 0.188, 'korea1k': 0.129, 'korean': 0.107, 'northernsweden': 0.19, 'prjeb36033': 0.419, 'qatari': 0.282, 'sgdp_prj': 0.582, 'siberian': 0.667, 'tommo': 0.084, 'topmed': 0.197, 'twinsuk': 0.252, 'vietnamese': 0.145}}]",C,11,155.0,22997.0,False,immunoglobulin superfamily member 9B,"[{'hgvs': 'NM_001277285.4:c.*6126=', 'protein_product': {'refseq': 'NP_001264214.1'}, 'refseq': 'NM_001277285.4', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}]",-,IGSF9B,133902943.0,133902943.0,T,rs11223616,snv,133902943.0,133902943.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,133902943,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,29059.0,5022.0,2687.0,2335.0,150.0,75.0,75.0,3298.0,1433.0,1865.0,1135.0,611.0,524.0,743.0,330.0,413.0,1043.0,270.0,773.0,97.0,55.0,42.0,16150.0,9390.0,6760.0,486.0,244.0,242.0,935.0,242.0,693.0,15337.0,13722.0,0.191263,0.121463,0.121573,0.121337,0.164835,0.160256,0.169683,0.216064,0.211357,0.219826,0.327089,0.327088,0.327091,0.144104,0.145503,0.143006,0.0983962,0.104977,0.096288,0.306962,0.335366,0.276316,0.237605,0.238749,0.236034,0.232759,0.236893,0.228733,0.194306,0.207904,0.189967,0.197271,0.184968,C,C,151932.0,41346.0,22102.0,19244.0,910.0,468.0,442.0,15264.0,6780.0,8484.0,3470.0,1868.0,1602.0,5156.0,2268.0,2888.0,10600.0,2572.0,8028.0,316.0,164.0,152.0,67970.0,39330.0,28640.0,2088.0,1030.0,1058.0,4812.0,1164.0,3648.0,77746.0,74186.0,0.0,59.9961,-0.031,1.0,16.1275,0.372,0.694959,22.799,11,3148.0,343.0,191.0,152.0,13.0,6.0,7.0,345.0,140.0,205.0,189.0,110.0,79.0,54.0,26.0,28.0,55.0,11.0,44.0,9.0,6.0,3.0,1983.0,1170.0,813.0,66.0,35.0,31.0,91.0,28.0,63.0,1723.0,1425.0,0.0317588,133902943.0,T,rs11223616,snp,,"[{'distance_to_feature': '1203', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_024344.1', 'feature_type': 'transcript', 'gene_id': 'MIR4697HG', 'genename': 'MIR4697HG', 'hgvs_c': 'n.-1203A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'distance_to_feature': '4362', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_039846.1', 'feature_type': 'transcript', 'gene_id': 'MIR4697', 'genename': 'MIR4697', 'hgvs_c': 'n.-4362A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'effect': 'intergenic_region', 'feature_id': 'MIR4697HG-IGSF9B', 'feature_type': 'intergenic_region', 'gene_id': 'MIR4697HG-IGSF9B', 'genename': 'MIR4697HG-IGSF9B', 'hgvs_c': 'n.133902943T>C', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T20:11Z,rs61195234,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr11:g.133941265C>T,17.123941,11,True,CA231276592,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.852, 'alspac': 0.707, 'dbgap_popfreq': 0.736, 'estonian': 0.836, 'genome_dk': 0.75, 'gnomad': 0.816, 'gonl': 0.732, 'hapmap': 0.87, 'hgdp_stanford': 0.844, 'korea1k': 0.934, 'korean': 0.945, 'northernsweden': 0.827, 'prjeb36033': 0.725, 'qatari': 0.81, 'sgdp_prj': 0.377, 'siberian': 0.389, 'tommo': 0.953, 'topmed': 0.814, 'twinsuk': 0.696, 'vietnamese': 0.924}}, {'allele': 'T', 'freq': {'1000g': 0.148, 'alspac': 0.293, 'dbgap_popfreq': 0.264, 'estonian': 0.164, 'genome_dk': 0.25, 'gnomad': 0.184, 'gonl': 0.268, 'hapmap': 0.13, 'hgdp_stanford': 0.156, 'korea1k': 0.066, 'korean': 0.055, 'northernsweden': 0.173, 'prjeb36033': 0.275, 'qatari': 0.19, 'sgdp_prj': 0.623, 'siberian': 0.611, 'tommo': 0.047, 'topmed': 0.186, 'twinsuk': 0.304, 'vietnamese': 0.076}}]",T,11,155.0,22997.0,False,immunoglobulin superfamily member 9B,"[{'hgvs': 'NM_001277285.4:c.409+2955=', 'protein_product': {'refseq': 'NP_001264214.1'}, 'refseq': 'NM_001277285.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,IGSF9B,133941265.0,133941265.0,C,rs10444323,snv,133941265.0,133941265.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_001277285.1,transcript,IGSF9B,IGSF9B,c.409+2955G>A,,,,MODIFIER,3,19,protein_coding,T,133941265,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,28427.0,2438.0,1368.0,1070.0,315.0,159.0,156.0,2939.0,1269.0,1670.0,986.0,533.0,453.0,332.0,135.0,197.0,1514.0,374.0,1140.0,64.0,35.0,29.0,18310.0,10677.0,7633.0,438.0,230.0,208.0,1091.0,285.0,806.0,15065.0,13362.0,0.186924,0.0588804,0.0618221,0.0555037,0.346154,0.338298,0.354545,0.192469,0.187003,0.196841,0.28415,0.285638,0.282419,0.0639199,0.0592105,0.0676047,0.142803,0.145412,0.141968,0.202532,0.213415,0.190789,0.269304,0.2715,0.266292,0.20977,0.223301,0.196597,0.225786,0.244845,0.219738,0.193672,0.179858,T,T,152078.0,41406.0,22128.0,19278.0,910.0,470.0,440.0,15270.0,6786.0,8484.0,3470.0,1866.0,1604.0,5194.0,2280.0,2914.0,10602.0,2572.0,8030.0,316.0,164.0,152.0,67990.0,39326.0,28664.0,2088.0,1030.0,1058.0,4832.0,1164.0,3668.0,77786.0,74292.0,0.0,59.9976,-0.021,1.0,16.5119,0.352,0.703213,22.9277,11,3387.0,85.0,46.0,39.0,52.0,23.0,29.0,262.0,110.0,152.0,148.0,88.0,60.0,12.0,3.0,9.0,112.0,25.0,87.0,4.0,3.0,1.0,2534.0,1507.0,1027.0,50.0,33.0,17.0,128.0,36.0,92.0,1874.0,1513.0,0.0637755,133941265.0,C,rs10444323,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T04:41Z,rs60444515,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr14:g.92472511G>T,17.123556,14,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.606, 'alspac': 0.655, 'dbgap_popfreq': 0.798, 'estonian': 0.647, 'gonl': 0.64, 'korea1k': 0.512, 'korean': 0.515, 'northernsweden': 0.687, 'qatari': 0.741, 'sgdp_prj': 0.354, 'siberian': 0.385, 'tommo': 0.447, 'topmed': 0.655, 'twinsuk': 0.662, 'vietnamese': 0.62}}, {'allele': 'A', 'freq': {'1000g': 0.394, 'alspac': 0.345, 'dbgap_popfreq': 0.202, 'estonian': 0.353, 'gonl': 0.36, 'korea1k': 0.488, 'korean': 0.485, 'northernsweden': 0.313, 'qatari': 0.259, 'sgdp_prj': 0.646, 'siberian': 0.615, 'tommo': 0.553, 'topmed': 0.345, 'twinsuk': 0.338, 'vietnamese': 0.38}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",T,14,155.0,123041.0,False,solute carrier family 24 member 4,"[{'hgvs': 'NM_001378620.1:c.1256-10169=', 'protein_product': {'refseq': 'NP_001365549.1'}, 'refseq': 'NM_001378620.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_153646.4:c.1256-10169=', 'protein_product': {'refseq': 'NP_705932.2'}, 'refseq': 'NM_153646.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_153647.4:c.1199-10169=', 'protein_product': {'refseq': 'NP_705933.2'}, 'refseq': 'NM_153647.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_153648.4:c.1064-10169=', 'protein_product': {'refseq': 'NP_705934.1'}, 'refseq': 'NM_153648.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005267342.2:c.812-10169=', 'protein_product': {'refseq': 'XP_005267399.1'}, 'refseq': 'XM_005267342.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011536436.2:c.1397-10169=', 'protein_product': {'refseq': 'XP_011534738.1'}, 'refseq': 'XM_011536436.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011536437.2:c.1340-10169=', 'protein_product': {'refseq': 'XP_011534739.1'}, 'refseq': 'XM_011536437.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011536438.2:c.1397-10169=', 'protein_product': {'refseq': 'XP_011534740.1'}, 'refseq': 'XM_011536438.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011536439.2:c.1340-10169=', 'protein_product': {'refseq': 'XP_011534741.1'}, 'refseq': 'XM_011536439.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011536440.2:c.506-10169=', 'protein_product': {'refseq': 'XP_011534742.1'}, 'refseq': 'XM_011536440.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_024449478.1:c.1199-10169=', 'protein_product': {'refseq': 'XP_024305246.1'}, 'refseq': 'XM_024449478.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,SLC24A4,92472511.0,92472511.0,G,rs12590654,snv,92472511.0,92472511.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,92472511,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_153646.3', 'feature_type': 'transcript', 'gene_id': 'SLC24A4', 'genename': 'SLC24A4', 'hgvs_c': 'c.1256-10169G>T', 'putative_impact': 'MODIFIER', 'rank': '12', 'total': '16', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_153648.3', 'feature_type': 'transcript', 'gene_id': 'SLC24A4', 'genename': 'SLC24A4', 'hgvs_c': 'c.1064-10169G>T', 'putative_impact': 'MODIFIER', 'rank': '12', 'total': '16', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_153647.3', 'feature_type': 'transcript', 'gene_id': 'SLC24A4', 'genename': 'SLC24A4', 'hgvs_c': 'c.1199-10169G>T', 'putative_impact': 'MODIFIER', 'rank': '13', 'total': '17', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr15:g.58583199A>C,17.123337,15,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.316, 'alspac': 0.593, 'dbgap_popfreq': 0.532, 'estonian': 0.58, 'genome_dk': 0.6, 'gnomad': 0.448, 'gonl': 0.561, 'hapmap': 0.099, 'korea1k': 0.052, 'korean': 0.064, 'northernsweden': 0.552, 'qatari': 0.537, 'sgdp_prj': 0.181, 'siberian': 0.381, 'tommo': 0.042, 'topmed': 0.432, 'twinsuk': 0.585, 'vietnamese': 0.139}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.684, 'alspac': 0.407, 'dbgap_popfreq': 0.468, 'estonian': 0.42, 'genome_dk': 0.4, 'gnomad': 0.552, 'gonl': 0.439, 'hapmap': 0.901, 'korea1k': 0.948, 'korean': 0.936, 'northernsweden': 0.448, 'qatari': 0.463, 'sgdp_prj': 0.819, 'siberian': 0.619, 'tommo': 0.958, 'topmed': 0.568, 'twinsuk': 0.415, 'vietnamese': 0.861}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}]",C,15,155.0,,,,,,,58583199.0,58583199.0,A,rs7168776,snv,58583199.0,58583199.0,http://bit.ly/2suyRKt,,,,,intergenic_region,LIPC-ADAM10,intergenic_region,LIPC-ADAM10,LIPC-ADAM10,n.58583199A>C,,,,MODIFIER,,,,C,58583199,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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'MODIFIER', 'rank': '1', 'total': '2', 'transcript_biotype': 'protein_coding'}]",http://bit.ly/2SQdcI0,1157699.0,G,16,16p11.2,1489,CTF1,30909706.0,30909706.0,30898385.0,30898385.0,"['NM_001142544.3:c.26-1033C>G', 'NM_001330.5:c.26-1030C>G']","['LRG_408:g.6779C>G', 'NC_000016.10:g.30898385C>G', 'NC_000016.9:g.30909706C>G', 'NG_009171.1:g.6779C>G']",,RCV001509673,Benign,CN239310,,"Dilated Cardiomyopathy, Dominant",,2020-12-07,1.0,germline,NM_001330.5(CTF1):c.26-1030C>G,"criteria provided, single submitter",C,,single nucleotide variant,1164131.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr16:g.30926478G>A,17.123518,16,True,CA14245361,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.51, 'alspac': 0.638, 'dbgap_popfreq': 0.581, 'estonian': 0.62, 'genome_dk': 0.725, 'gnomad': 0.548, 'gonl': 0.635, 'hapmap': 0.546, 'korean': 0.92, 'northernsweden': 0.62, 'qatari': 0.653, 'sgdp_prj': 0.32, 'siberian': 0.385, 'tommo': 0.904, 'topmed': 0.541, 'twinsuk': 0.636, 'vietnamese': 0.884}}, {'allele': 'A', 'freq': {'1000g': 0.49, 'alspac': 0.362, 'dbgap_popfreq': 0.419, 'estonian': 0.38, 'genome_dk': 0.275, 'gnomad': 0.452, 'gonl': 0.365, 'hapmap': 0.454, 'korean': 0.08, 'northernsweden': 0.38, 'qatari': 0.347, 'sgdp_prj': 0.68, 'siberian': 0.615, 'tommo': 0.096, 'topmed': 0.459, 'twinsuk': 0.364, 'vietnamese': 0.116}}]",A,16,155.0,54620.0,False,F-box and leucine rich repeat protein 19,"[{'hgvs': 'NM_001099784.3:c.237+547=', 'protein_product': {'refseq': 'NP_001093254.2'}, 'refseq': 'NM_001099784.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282351.1:c.-702+547=', 'protein_product': {'refseq': 'NP_001269280.1'}, 'refseq': 'NM_001282351.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382779.1:c.177+547=', 'protein_product': {'refseq': 'NP_001369708.1'}, 'refseq': 'NM_001382779.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382780.1:c.243+547=', 'protein_product': {'refseq': 'NP_001369709.1'}, 'refseq': 'NM_001382780.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382781.1:c.177+547=', 'protein_product': {'refseq': 'NP_001369710.1'}, 'refseq': 'NM_001382781.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,FBXL19,30926478.0,30926478.0,G,rs8050588,snv,30926478.0,30926478.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,30926478,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,68569.0,27796.0,14861.0,12935.0,335.0,184.0,151.0,6483.0,2835.0,3648.0,1083.0,577.0,506.0,476.0,218.0,258.0,3437.0,815.0,2622.0,82.0,46.0,36.0,24713.0,14259.0,10454.0,829.0,429.0,400.0,3335.0,837.0,2498.0,35061.0,33508.0,0.451468,0.672701,0.672443,0.672997,0.369757,0.39485,0.343182,0.425003,0.418388,0.43029,0.312644,0.309218,0.316646,0.0917856,0.0957821,0.0886598,0.325535,0.317121,0.328242,0.261146,0.280488,0.24,0.363608,0.362585,0.365014,0.396651,0.415698,0.378072,0.691622,0.719072,0.682887,0.451003,0.451956,A,A,151880.0,41320.0,22100.0,19220.0,906.0,466.0,440.0,15254.0,6776.0,8478.0,3464.0,1866.0,1598.0,5186.0,2276.0,2910.0,10558.0,2570.0,7988.0,314.0,164.0,150.0,67966.0,39326.0,28640.0,2090.0,1032.0,1058.0,4822.0,1164.0,3658.0,77740.0,74140.0,0.0,59.9967,-0.032,1.0,20.1918,0.373,0.687055,22.2263,16,17389.0,9395.0,5010.0,4385.0,54.0,32.0,22.0,1380.0,603.0,777.0,181.0,94.0,87.0,28.0,15.0,13.0,558.0,132.0,426.0,8.0,5.0,3.0,4432.0,2559.0,1873.0,173.0,97.0,76.0,1180.0,310.0,870.0,8857.0,8532.0,0.101837,30926478.0,G,rs8050588,snp,,"[{'distance_to_feature': '3209', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_024348.1', 'feature_type': 'transcript', 'gene_id': 'FBXL19-AS1', 'genename': 'FBXL19-AS1', 'hgvs_c': 'n.-3209C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'effect': 'intron_variant', 'feature_id': 'NM_001099784.2', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.237+547G>A', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282351.1', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.-702+547G>A', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-26T19:10Z', 'rsid': 'rs61132222', 'rv': 130}, {'date': '2014-08-21T16:14Z', 'rsid': 'rs386615050', 'rv': 142}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr16:g.30937076A>G,17.123701,16,True,CA14281332,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.64, 'alspac': 0.602, 'dbgap_popfreq': 0.608, 'estonian': 0.603, 'genome_dk': 0.55, 'gnomad': 0.674, 'gonl': 0.597, 'korean': 0.081, 'northernsweden': 0.578, 'prjeb36033': 0.559, 'qatari': 0.537, 'sgdp_prj': 0.266, 'siberian': 0.273, 'tommo': 0.097, 'topmed': 0.667, 'twinsuk': 0.599, 'vietnamese': 0.144}}, {'allele': 'G', 'freq': {'1000g': 0.36, 'alspac': 0.398, 'dbgap_popfreq': 0.392, 'estonian': 0.397, 'genome_dk': 0.45, 'gnomad': 0.326, 'gonl': 0.403, 'korean': 0.919, 'northernsweden': 0.422, 'prjeb36033': 0.441, 'qatari': 0.463, 'sgdp_prj': 0.734, 'siberian': 0.727, 'tommo': 0.903, 'topmed': 0.333, 'twinsuk': 0.401, 'vietnamese': 0.856}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",G,16,155.0,54620.0,False,F-box and leucine rich repeat protein 19,"[{'hgvs': 'NM_001099784.3:c.1362-5040=', 'protein_product': {'refseq': 'NP_001093254.2'}, 'refseq': 'NM_001099784.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282351.1:c.426-5040=', 'protein_product': {'refseq': 'NP_001269280.1'}, 'refseq': 'NM_001282351.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382779.1:c.1302-5040=', 'protein_product': {'refseq': 'NP_001369708.1'}, 'refseq': 'NM_001382779.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382780.1:c.1239-5040=', 'protein_product': {'refseq': 'NP_001369709.1'}, 'refseq': 'NM_001382780.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382781.1:c.1173-5040=', 'protein_product': {'refseq': 'NP_001369710.1'}, 'refseq': 'NM_001382781.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,FBXL19,30937076.0,30937076.0,A,rs12917722,snv,30937076.0,30937076.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,30937076,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,50716.0,3260.0,1759.0,1501.0,398.0,188.0,210.0,6095.0,2774.0,3321.0,1867.0,1016.0,851.0,4680.0,2043.0,2637.0,4594.0,1143.0,3451.0,155.0,78.0,77.0,27873.0,16165.0,11708.0,833.0,403.0,430.0,961.0,215.0,746.0,25784.0,24932.0,0.334045,0.0789499,0.0797154,0.0780714,0.437363,0.401709,0.475113,0.399882,0.409749,0.391997,0.538972,0.545064,0.531875,0.902778,0.899208,0.905563,0.435698,0.444747,0.432782,0.493631,0.481481,0.506579,0.410114,0.411219,0.408599,0.399329,0.390504,0.40797,0.199212,0.185026,0.203714,0.331943,0.336246,G,G,151824.0,41292.0,22066.0,19226.0,910.0,468.0,442.0,15242.0,6770.0,8472.0,3464.0,1864.0,1600.0,5184.0,2272.0,2912.0,10544.0,2570.0,7974.0,314.0,162.0,152.0,67964.0,39310.0,28654.0,2086.0,1032.0,1054.0,4824.0,1162.0,3662.0,77676.0,74148.0,0.0,59.9604,-0.017,1.0,19.4398,0.361,0.690699,7.1431,16,11168.0,180.0,97.0,83.0,73.0,30.0,43.0,1233.0,576.0,657.0,515.0,281.0,234.0,2116.0,922.0,1194.0,1021.0,262.0,759.0,39.0,18.0,21.0,5713.0,3307.0,2406.0,170.0,83.0,87.0,108.0,24.0,84.0,5600.0,5568.0,0.160723,30937076.0,A,rs12917722,snp,25025664,"[{'effect': 'intron_variant', 'feature_id': 'NM_001099784.2', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.1362-5040A>G', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282351.1', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.426-5040A>G', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T05:50Z,rs60517962,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr16:g.30937076A>T,17.12324,16,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.64, 'alspac': 0.602, 'dbgap_popfreq': 0.608, 'estonian': 0.603, 'genome_dk': 0.55, 'gnomad': 0.674, 'gonl': 0.597, 'korean': 0.081, 'northernsweden': 0.578, 'prjeb36033': 0.559, 'qatari': 0.537, 'sgdp_prj': 0.266, 'siberian': 0.273, 'tommo': 0.097, 'topmed': 0.667, 'twinsuk': 0.599, 'vietnamese': 0.144}}, {'allele': 'G', 'freq': {'1000g': 0.36, 'alspac': 0.398, 'dbgap_popfreq': 0.392, 'estonian': 0.397, 'genome_dk': 0.45, 'gnomad': 0.326, 'gonl': 0.403, 'korean': 0.919, 'northernsweden': 0.422, 'prjeb36033': 0.441, 'qatari': 0.463, 'sgdp_prj': 0.734, 'siberian': 0.727, 'tommo': 0.903, 'topmed': 0.333, 'twinsuk': 0.401, 'vietnamese': 0.856}}, {'allele': 'T', 'freq': {'korean': 0.0}}]",T,16,155.0,54620.0,False,F-box and leucine rich repeat protein 19,"[{'hgvs': 'NM_001099784.3:c.1362-5040=', 'protein_product': {'refseq': 'NP_001093254.2'}, 'refseq': 'NM_001099784.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282351.1:c.426-5040=', 'protein_product': {'refseq': 'NP_001269280.1'}, 'refseq': 'NM_001282351.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382779.1:c.1302-5040=', 'protein_product': {'refseq': 'NP_001369708.1'}, 'refseq': 'NM_001382779.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382780.1:c.1239-5040=', 'protein_product': {'refseq': 'NP_001369709.1'}, 'refseq': 'NM_001382780.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001382781.1:c.1173-5040=', 'protein_product': {'refseq': 'NP_001369710.1'}, 'refseq': 'NM_001382781.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,FBXL19,30937076.0,30937076.0,A,rs12917722,snv,30937076.0,30937076.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,30937076,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,25025664,"[{'effect': 'intron_variant', 'feature_id': 'NM_001099784.2', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.1362-5040A>T', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282351.1', 'feature_type': 'transcript', 'gene_id': 'FBXL19', 'genename': 'FBXL19', 'hgvs_c': 'c.426-5040A>T', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T05:50Z,rs60517962,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr16:g.31121341G>A,17.12348,16,True,CA14245436,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.575, 'alspac': 0.724, 'dbgap_popfreq': 0.838, 'estonian': 0.667, 'genome_dk': 0.75, 'gnomad': 0.644, 'gonl': 0.732, 'korean': 0.923, 'northernsweden': 0.655, 'qatari': 0.685, 'sgdp_prj': 0.296, 'siberian': 0.375, 'tommo': 0.907, 'twinsuk': 0.711, 'vietnamese': 0.862}}, {'allele': 'A', 'freq': {'1000g': 0.425, 'alspac': 0.276, 'dbgap_popfreq': 0.162, 'estonian': 0.333, 'genome_dk': 0.25, 'gnomad': 0.356, 'gonl': 0.268, 'korean': 0.077, 'northernsweden': 0.345, 'qatari': 0.315, 'sgdp_prj': 0.704, 'siberian': 0.625, 'tommo': 0.093, 'twinsuk': 0.289, 'vietnamese': 0.138}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",A,16,155.0,84148.0,False,lysine acetyltransferase 8,"[{'hgvs': 'NM_032188.3:c.462+827=', 'protein_product': {'refseq': 'NP_115564.2'}, 'refseq': 'NM_032188.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_182958.4:c.462+827=', 'protein_product': {'refseq': 'NP_892003.2'}, 'refseq': 'NM_182958.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011545970.1:c.-13+827=', 'protein_product': {'refseq': 'XP_011544272.1'}, 'refseq': 'XM_011545970.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011545971.1:c.-13+827=', 'protein_product': {'refseq': 'XP_011544273.1'}, 'refseq': 'XM_011545971.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,KAT8,31121341.0,31121341.0,G,rs28725459,snv,31121341.0,31121341.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,31121341,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,54698.0,20193.0,10756.0,9437.0,316.0,177.0,139.0,5649.0,2480.0,3169.0,770.0,408.0,362.0,555.0,246.0,309.0,3290.0,829.0,2461.0,62.0,31.0,31.0,19866.0,11535.0,8331.0,706.0,352.0,354.0,3291.0,818.0,2473.0,27632.0,27066.0,0.361072,0.490645,0.489844,0.491562,0.346491,0.376596,0.31448,0.371743,0.366647,0.37583,0.221902,0.21865,0.225686,0.107267,0.10837,0.106405,0.313991,0.323071,0.311047,0.196203,0.189024,0.203947,0.292595,0.293661,0.291131,0.340405,0.345098,0.335863,0.683347,0.705172,0.676422,0.356459,0.365905,A,A,151488.0,41156.0,21958.0,19198.0,912.0,470.0,442.0,15196.0,6764.0,8432.0,3470.0,1866.0,1604.0,5174.0,2270.0,2904.0,10478.0,2566.0,7912.0,316.0,164.0,152.0,67896.0,39280.0,28616.0,2074.0,1020.0,1054.0,4816.0,1160.0,3656.0,77518.0,73970.0,1.92865e-15,59.8687,0.0,1.0,18.2703,0.332,0.684591,6.8877,16,10758.0,4917.0,2634.0,2283.0,52.0,32.0,20.0,1046.0,445.0,601.0,92.0,47.0,45.0,29.0,17.0,12.0,493.0,135.0,358.0,8.0,4.0,4.0,2843.0,1674.0,1169.0,130.0,66.0,64.0,1148.0,299.0,849.0,5353.0,5405.0,0.0515633,31121341.0,G,rs28725459,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_182958.2', 'feature_type': 'transcript', 'gene_id': 'KAT8', 'genename': 'KAT8', 'hgvs_c': 'c.462+827G>A', 'putative_impact': 'MODIFIER', 'rank': '3', 'total': '9', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_032188.2', 'feature_type': 'transcript', 'gene_id': 'KAT8', 'genename': 'KAT8', 'hgvs_c': 'c.462+827G>A', 'putative_impact': 'MODIFIER', 'rank': '3', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-24T07:01Z,rs57845842,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr16:g.31121341G>C,17.123354,16,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.575, 'alspac': 0.724, 'dbgap_popfreq': 0.838, 'estonian': 0.667, 'genome_dk': 0.75, 'gnomad': 0.644, 'gonl': 0.732, 'korean': 0.923, 'northernsweden': 0.655, 'qatari': 0.685, 'sgdp_prj': 0.296, 'siberian': 0.375, 'tommo': 0.907, 'twinsuk': 0.711, 'vietnamese': 0.862}}, {'allele': 'A', 'freq': {'1000g': 0.425, 'alspac': 0.276, 'dbgap_popfreq': 0.162, 'estonian': 0.333, 'genome_dk': 0.25, 'gnomad': 0.356, 'gonl': 0.268, 'korean': 0.077, 'northernsweden': 0.345, 'qatari': 0.315, 'sgdp_prj': 0.704, 'siberian': 0.625, 'tommo': 0.093, 'twinsuk': 0.289, 'vietnamese': 0.138}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",C,16,155.0,84148.0,False,lysine acetyltransferase 8,"[{'hgvs': 'NM_032188.3:c.462+827=', 'protein_product': {'refseq': 'NP_115564.2'}, 'refseq': 'NM_032188.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_182958.4:c.462+827=', 'protein_product': {'refseq': 'NP_892003.2'}, 'refseq': 'NM_182958.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011545970.1:c.-13+827=', 'protein_product': {'refseq': 'XP_011544272.1'}, 'refseq': 'XM_011545970.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011545971.1:c.-13+827=', 'protein_product': {'refseq': 'XP_011544273.1'}, 'refseq': 'XM_011545971.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,KAT8,31121341.0,31121341.0,G,rs28725459,snv,31121341.0,31121341.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,31121341,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_182958.2', 'feature_type': 'transcript', 'gene_id': 'KAT8', 'genename': 'KAT8', 'hgvs_c': 'c.462+827G>C', 'putative_impact': 'MODIFIER', 'rank': '3', 'total': '9', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_032188.2', 'feature_type': 'transcript', 'gene_id': 'KAT8', 'genename': 'KAT8', 'hgvs_c': 'c.462+827G>C', 'putative_impact': 'MODIFIER', 'rank': '3', 'total': '10', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-24T07:01Z,rs57845842,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr17:g.45872956A>G,17.123604,17,True,CA14421684,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.737, 'alspac': 0.629, 'dbgap_popfreq': 0.668, 'estonian': 0.737, 'genome_dk': 0.625, 'gnomad': 0.638, 'gonl': 0.608, 'korean': 0.989, 'northernsweden': 0.737, 'qatari': 0.616, 'sgdp_prj': 0.375, 'siberian': 0.25, 'tommo': 0.996, 'topmed': 0.638, 'twinsuk': 0.643, 'vietnamese': 0.963}}, {'allele': 'G', 'freq': {'1000g': 0.263, 'alspac': 0.371, 'dbgap_popfreq': 0.332, 'estonian': 0.263, 'genome_dk': 0.375, 'gnomad': 0.362, 'gonl': 0.392, 'korean': 0.011, 'northernsweden': 0.263, 'qatari': 0.384, 'sgdp_prj': 0.625, 'siberian': 0.75, 'tommo': 0.004, 'topmed': 0.362, 'twinsuk': 0.357, 'vietnamese': 0.037}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",G,17,155.0,100128977.0,False,MAPT antisense RNA 1,"[{'refseq': 'NR_024559.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,MAPT-AS1,45872956.0,45872956.0,A,rs9898399,snv,45872956.0,45872956.0,http://bit.ly/2suyRKt,,,,,intron_variant,NR_024559.1,transcript,MAPT-AS1,MAPT-AS1,n.34+22524T>C,,,,MODIFIER,1,1,pseudogene,G,45872956,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,53191.0,18848.0,10048.0,8800.0,321.0,168.0,153.0,4459.0,1958.0,2501.0,1474.0,779.0,695.0,90.0,50.0,40.0,2555.0,638.0,1917.0,140.0,78.0,62.0,23928.0,13866.0,10062.0,723.0,332.0,391.0,653.0,175.0,478.0,28092.0,25099.0,0.35013,0.456103,0.454949,0.457428,0.353524,0.358974,0.347727,0.292355,0.288961,0.295068,0.425029,0.417471,0.433833,0.0173477,0.0220459,0.0136986,0.241539,0.248056,0.239445,0.443038,0.47561,0.407895,0.352017,0.352519,0.351327,0.346264,0.32233,0.369565,0.135421,0.150344,0.130672,0.361414,0.338307,G,G,151918.0,41324.0,22086.0,19238.0,908.0,468.0,440.0,15252.0,6776.0,8476.0,3468.0,1866.0,1602.0,5188.0,2268.0,2920.0,10578.0,2572.0,8006.0,316.0,164.0,152.0,67974.0,39334.0,28640.0,2088.0,1030.0,1058.0,4822.0,1164.0,3658.0,77728.0,74190.0,0.0,59.9777,-0.02,1.0,17.5421,0.164,0.69347,7.2998,17,10138.0,4278.0,2280.0,1998.0,56.0,25.0,31.0,719.0,320.0,399.0,327.0,163.0,164.0,0.0,0.0,0.0,310.0,86.0,224.0,34.0,21.0,13.0,4245.0,2444.0,1801.0,118.0,49.0,69.0,51.0,14.0,37.0,5402.0,4736.0,0.0484722,45872956.0,A,rs9898399,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2006-03-11T07:21Z', 'rsid': 'rs13342137', 'rv': 126}, {'date': '2008-05-25T07:06Z', 'rsid': 'rs59043021', 'rv': 130}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs111713384', 'rv': 137}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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associated protein tau,"[{'hgvs': 'NM_001123066.4:c.1182+802=', 'protein_product': {'refseq': 'NP_001116538.2'}, 'refseq': 'NM_001123066.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001123067.4:c.342+802=', 'protein_product': {'refseq': 'NP_001116539.1'}, 'refseq': 'NM_001123067.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001203251.2:c.342+802=', 'protein_product': {'refseq': 'NP_001190180.1'}, 'refseq': 'NM_001203251.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001203252.2:c.429+802=', 'protein_product': {'refseq': 'NP_001190181.1'}, 'refseq': 'NM_001203252.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001377265.1:c.1407+802=', 'protein_product': {'refseq': 'NP_001364194.1'}, 'refseq': 'NM_001377265.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001377266.1:c.1407+802=', 'protein_product': {'refseq': 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[{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_016841.5:c.649-7661=', 'protein_product': {'refseq': 'NP_058525.1'}, 'refseq': 'NM_016841.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'NR_165166.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005257362.4:c.2086-3728=', 'protein_product': {'refseq': 'XP_005257419.1'}, 'refseq': 'XM_005257362.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005257365.4:c.2086-7661=', 'protein_product': {'refseq': 'XP_005257422.1'}, 'refseq': 'XM_005257365.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005257366.3:c.1912-3728=', 'protein_product': {'refseq': 'XP_005257423.1'}, 'refseq': 'XM_005257366.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005257367.4:c.1888-3728=', 'protein_product': {'refseq': 'XP_005257424.1'}, 'refseq': 'XM_005257367.4', 'so': [{'accession': 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'intron_variant'}]}]",+,MAPT,46006582.0,46006582.0,T,rs8067056,snv,46006582.0,46006582.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,46006582,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,21935397,"[{'effect': 'intron_variant', 'feature_id': 'NM_001123066.3', 'feature_type': 'transcript', 'gene_id': 'MAPT', 'genename': 'MAPT', 'hgvs_c': 'c.1828-3728T>A', 'putative_impact': 'MODIFIER', 'rank': '11', 'total': '14', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001123067.3', 'feature_type': 'transcript', 'gene_id': 'MAPT', 'genename': 'MAPT', 'hgvs_c': 'c.736-3728T>A', 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'2012-05-4T12:46Z', 'rsid': 'rs114077443', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs116911805', 'rv': 132}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr17:g.46111701A>C,17.123674,17,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.622, 'alspac': 0.58, 'dbgap_popfreq': 0.605, 'estonian': 0.675, 'genome_dk': 0.75, 'gnomad': 0.604, 'gonl': 0.566, 'hapmap': 0.604, 'korean': 0.463, 'northernsweden': 0.662, 'page_study': 0.575, 'prjeb36033': 0.632, 'prjeb37584': 0.465, 'qatari': 0.648, 'sgdp_prj': 0.346, 'siberian': 0.342, 'tommo': 0.496, 'topmed': 0.591, 'twinsuk': 0.586, 'vietnamese': 0.745}}, {'allele': 'C', 'freq': {'korean': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.378, 'alspac': 0.42, 'dbgap_popfreq': 0.395, 'estonian': 0.325, 'genome_dk': 0.25, 'gnomad': 0.396, 'gonl': 0.434, 'hapmap': 0.396, 'korean': 0.537, 'northernsweden': 0.338, 'page_study': 0.425, 'prjeb36033': 0.368, 'prjeb37584': 0.535, 'qatari': 0.352, 'sgdp_prj': 0.654, 'siberian': 0.658, 'tommo': 0.504, 'topmed': 0.409, 'twinsuk': 0.414, 'vietnamese': 0.255}}]",C,17,155.0,284058.0,False,KAT8 regulatory NSL complex subunit 1,"[{'hgvs': 'NM_001193465.2:c.1290-17000=', 'protein_product': {'refseq': 'NP_001180394.1'}, 'refseq': 'NM_001193465.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001193466.2:c.1290-17000=', 'protein_product': {'refseq': 'NP_001180395.1'}, 'refseq': 'NM_001193466.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001379198.1:c.1290-17000=', 'protein_product': {'refseq': 'NP_001366127.1'}, 'refseq': 'NM_001379198.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_015443.4:c.1290-17000=', 'protein_product': {'refseq': 'NP_056258.1'}, 'refseq': 'NM_015443.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_006721824.4:c.1290-17000=', 'protein_product': {'refseq': 'XP_006721887.1'}, 'refseq': 'XM_006721824.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011524628.3:c.1290-17000=', 'protein_product': {'refseq': 'XP_011522930.1'}, 'refseq': 'XM_011524628.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011524629.3:c.1290-17000=', 'protein_product': {'refseq': 'XP_011522931.1'}, 'refseq': 'XM_011524629.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011524630.3:c.1290-17000=', 'protein_product': {'refseq': 'XP_011522932.1'}, 'refseq': 'XM_011524630.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011524631.3:c.1290-17000=', 'protein_product': {'refseq': 'XP_011522933.1'}, 'refseq': 'XM_011524631.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011524632.3:c.60-17000=', 'protein_product': {'refseq': 'XP_011522934.1'}, 'refseq': 'XM_011524632.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017024488.2:c.1290-17000=', 'protein_product': {'refseq': 'XP_016879977.1'}, 'refseq': 'XM_017024488.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017024489.1:c.1290-17000=', 'protein_product': {'refseq': 'XP_016879978.1'}, 'refseq': 'XM_017024489.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,KANSL1,46111701.0,46111701.0,A,rs7225002,snv,46111701.0,46111701.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,46111701,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[18509094, 21150878]","[{'effect': 'intron_variant', 'feature_id': 'NM_001193466.1', 'feature_type': 'transcript', 'gene_id': 'KANSL1', 'genename': 'KANSL1', 'hgvs_c': 'c.1290-17000T>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '14', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_015443.3', 'feature_type': 'transcript', 'gene_id': 'KANSL1', 'genename': 'KANSL1', 'hgvs_c': 'c.1290-17000T>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '14', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001193465.1', 'feature_type': 'transcript', 'gene_id': 'KANSL1', 'genename': 'KANSL1', 'hgvs_c': 'c.1290-17000T>G', 'putative_impact': 'MODIFIER', 'rank': '3', 'total': '15', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2004-10-8T09:17Z', 'rsid': 'rs17577180', 'rv': 123}, {'date': '2012-05-4T12:46Z', 'rsid': 'rs116426939', 'rv': 137}, {'date': '2010-08-16T13:01Z', 'rsid': 'rs117337764', 'rv': 132}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.17643111A>T,17.123772,19,True,CA14637714,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.622, 'alspac': 0.523, 'dbgap_popfreq': 0.563, 'estonian': 0.545, 'genome_dk': 0.475, 'gnomad': 0.575, 'gonl': 0.514, 'korea1k': 0.769, 'korean': 0.776, 'northernsweden': 0.468, 'qatari': 0.625, 'sgdp_prj': 0.369, 'siberian': 0.325, 'tommo': 0.79, 'topmed': 0.593, 'twinsuk': 0.528, 'vietnamese': 0.726}}, {'allele': 'T', 'freq': {'1000g': 0.378, 'alspac': 0.477, 'dbgap_popfreq': 0.437, 'estonian': 0.455, 'genome_dk': 0.525, 'gnomad': 0.425, 'gonl': 0.486, 'korea1k': 0.231, 'korean': 0.224, 'northernsweden': 0.532, 'qatari': 0.375, 'sgdp_prj': 0.631, 'siberian': 0.675, 'tommo': 0.21, 'topmed': 0.407, 'twinsuk': 0.472, 'vietnamese': 0.274}}]",T,19,155.0,23025.0,False,unc-13 homolog A,"[{'hgvs': 'NM_001080421.3:c.2357-151=', 'protein_product': {'refseq': 'NP_001073890.2'}, 'refseq': 'NM_001080421.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001387021.1:c.2351-151=', 'protein_product': {'refseq': 'NP_001373950.1'}, 'refseq': 'NM_001387021.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001387022.1:c.2351-151=', 'protein_product': {'refseq': 'NP_001373951.1'}, 'refseq': 'NM_001387022.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001387023.1:c.2351-151=', 'protein_product': {'refseq': 'NP_001373952.1'}, 'refseq': 'NM_001387023.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527810.2:c.2327-151=', 'protein_product': {'refseq': 'XP_011526112.1'}, 'refseq': 'XM_011527810.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527811.2:c.2357-151=', 'protein_product': {'refseq': 'XP_011526113.1'}, 'refseq': 'XM_011527811.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017026502.1:c.2357-151=', 'protein_product': {'refseq': 'XP_016881991.1'}, 'refseq': 'XM_017026502.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,UNC13A,17643111.0,17643111.0,A,rs12975883,snv,17643111.0,17643111.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_001080421.2,transcript,UNC13A,UNC13A,c.2357-151T>A,,,,MODIFIER,18,41,protein_coding,T,17643111,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,64503.0,14689.0,7922.0,6767.0,402.0,217.0,185.0,5923.0,2512.0,3411.0,1719.0,902.0,817.0,1226.0,530.0,696.0,5330.0,1248.0,4082.0,149.0,78.0,71.0,31911.0,18477.0,13434.0,856.0,432.0,424.0,2298.0,551.0,1747.0,32869.0,31634.0,0.425364,0.356322,0.359633,0.352521,0.440789,0.461702,0.418552,0.388903,0.370939,0.403287,0.496247,0.483906,0.510625,0.237413,0.233275,0.240664,0.505789,0.485226,0.512428,0.471519,0.47561,0.467105,0.469971,0.470296,0.469523,0.409962,0.419417,0.400756,0.478152,0.472556,0.479945,0.423428,0.427394,T,T,151642.0,41224.0,22028.0,19196.0,912.0,470.0,442.0,15230.0,6772.0,8458.0,3464.0,1864.0,1600.0,5164.0,2272.0,2892.0,10538.0,2572.0,7966.0,316.0,164.0,152.0,67900.0,39288.0,28612.0,2088.0,1030.0,1058.0,4806.0,1166.0,3640.0,77626.0,74016.0,0.0,59.8725,0.0,1.0,19.1145,0.302,0.679208,6.9513,19,14098.0,2623.0,1442.0,1181.0,90.0,50.0,40.0,1165.0,477.0,688.0,415.0,222.0,193.0,143.0,64.0,79.0,1337.0,292.0,1045.0,35.0,18.0,17.0,7559.0,4387.0,3172.0,165.0,91.0,74.0,566.0,138.0,428.0,7181.0,6917.0,0.0211554,17643111.0,A,rs12975883,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44684030T>A,17.12359,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.553, 'alspac': 0.709, 'dbgap_popfreq': 0.701, 'estonian': 0.674, 'genome_dk': 0.85, 'gnomad': 0.623, 'gonl': 0.745, 'hapmap': 0.548, 'hgdp_stanford': 0.574, 'korea1k': 0.357, 'korean': 0.378, 'northernsweden': 0.742, 'page_study': 0.531, 'prjeb36033': 0.649, 'qatari': 0.745, 'sgdp_prj': 0.334, 'siberian': 0.433, 'tommo': 0.427, 'topmed': 0.606, 'twinsuk': 0.715, 'vietnamese': 0.509}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}, {'allele': 'C', 'freq': {'1000g': 0.447, 'alspac': 0.291, 'dbgap_popfreq': 0.299, 'estonian': 0.326, 'genome_dk': 0.15, 'gnomad': 0.377, 'gonl': 0.255, 'hapmap': 0.452, 'hgdp_stanford': 0.426, 'korea1k': 0.643, 'korean': 0.622, 'northernsweden': 0.258, 'page_study': 0.469, 'prjeb36033': 0.351, 'qatari': 0.255, 'sgdp_prj': 0.666, 'siberian': 0.567, 'tommo': 0.573, 'topmed': 0.394, 'twinsuk': 0.285, 'vietnamese': 0.491}}]",A,19,155.0,,,,,,,44684030.0,44684030.0,T,rs2289495,snv,44684030.0,44684030.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,44684030,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'distance_to_feature': '540', 'effect': '3_prime_UTR_variant', 'feature_id': 'NM_020219.3', 'feature_type': 'transcript', 'gene_id': 'CEACAM19', 'genename': 'CEACAM19', 'hgvs_c': 'c.*540T>A', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '540', 'effect': '3_prime_UTR_variant', 'feature_id': 'NM_001127893.1', 'feature_type': 'transcript', 'gene_id': 'CEACAM19', 'genename': 'CEACAM19', 'hgvs_c': 'c.*540T>A', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '8', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-25T14:52Z,rs59564468,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'geneid': 56971, 'is_pseudo': False, 'name': 'CEA cell adhesion molecule 19', 'rnas': [{'hgvs': 'NM_001127893.3:c.*540=', 'protein_product': {'refseq': 'NP_001121365.1'}, 'refseq': 'NM_001127893.3', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'hgvs': 'NM_001389722.1:c.*540=', 'protein_product': {'refseq': 'NP_001376651.1'}, 'refseq': 'NM_001389722.1', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}, {'hgvs': 'NM_020219.5:c.*540=', 'protein_product': {'refseq': 'NP_064604.2'}, 'refseq': 'NM_020219.5', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}], 'strand': '+', 'symbol': 'CEACAM19'}, {'geneid': 107985305, 'is_pseudo': False, 'name': 'uncharacterized CEACAM16-AS1', 'rnas': [{'refseq': 'XR_001753953.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001753954.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}], 'strand': '-', 'symbol': 'CEACAM16-AS1'}, {'geneid': 107985306, 'is_pseudo': False, 'name': 'uncharacterized LOC107985306', 'rnas': [{'refseq': 'XR_001753955.1', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'refseq': 'XR_001753956.1', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}, {'refseq': 'XR_001753957.1', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}]}], 'so': [{'accession': 'SO:0001636', 'name': '2KB_upstream_variant'}], 'strand': '+', 'symbol': 'LOC107985306'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44746404C>T,17.123734,19,True,CA14738078,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.863, 'alspac': 0.692, 'dbgap_popfreq': 0.747, 'genome_dk': 0.625, 'gnomad': 0.793, 'gonl': 0.679, 'korea1k': 0.849, 'korean': 0.842, 'northernsweden': 0.667, 'qatari': 0.921, 'sgdp_prj': 0.418, 'siberian': 0.471, 'tommo': 0.855, 'topmed': 0.81, 'twinsuk': 0.706}}, {'allele': 'T', 'freq': {'1000g': 0.137, 'alspac': 0.308, 'dbgap_popfreq': 0.253, 'genome_dk': 0.375, 'gnomad': 0.207, 'gonl': 0.321, 'korea1k': 0.151, 'korean': 0.158, 'northernsweden': 0.333, 'qatari': 0.079, 'sgdp_prj': 0.582, 'siberian': 0.529, 'tommo': 0.145, 'topmed': 0.19, 'twinsuk': 0.294}}]",T,19,155.0,602.0,False,BCL3 transcription coactivator,"[{'protein_product': {'refseq': 'NP_005169.2'}, 'refseq': 'NM_005178.5', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_011527197.2:c.-133+1267=', 'protein_product': {'refseq': 'XP_011525499.2'}, 'refseq': 'XM_011527197.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527198.3:c.279+1267=', 'protein_product': {'refseq': 'XP_011525500.2'}, 'refseq': 'XM_011527198.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011525502.1'}, 'refseq': 'XM_011527200.2', 'so': [{'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_017027109.1:c.-1589=', 'protein_product': {'refseq': 'XP_016882598.1'}, 'refseq': 'XM_017027109.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}, {'hgvs': 'XM_017027110.1:c.-1589=', 'protein_product': {'refseq': 'XP_016882599.1'}, 'refseq': 'XM_017027110.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}]",+,BCL3,44746404.0,44746404.0,C,rs12459810,snv,44746404.0,44746404.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,44746404,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,31183.0,2250.0,1223.0,1027.0,182.0,98.0,84.0,3054.0,1329.0,1725.0,758.0,421.0,337.0,590.0,274.0,316.0,3501.0,855.0,2646.0,37.0,22.0,15.0,19677.0,11441.0,8236.0,390.0,201.0,189.0,744.0,173.0,571.0,16037.0,15146.0,0.205962,0.0544741,0.0554146,0.053395,0.200441,0.208511,0.191781,0.201053,0.196598,0.204626,0.218822,0.225858,0.210625,0.114474,0.120918,0.109418,0.335088,0.334769,0.335191,0.117089,0.134146,0.0986842,0.290538,0.291922,0.288638,0.186961,0.194767,0.179317,0.154806,0.149396,0.156524,0.206849,0.20503,T,T,151402.0,41304.0,22070.0,19234.0,908.0,470.0,438.0,15190.0,6760.0,8430.0,3464.0,1864.0,1600.0,5154.0,2266.0,2888.0,10448.0,2554.0,7894.0,316.0,164.0,152.0,67726.0,39192.0,28534.0,2086.0,1032.0,1054.0,4806.0,1158.0,3648.0,77530.0,73872.0,0.0,59.9127,0.0,1.0,15.381,0.375,0.667207,5.4466,19,4091.0,76.0,41.0,35.0,24.0,13.0,11.0,295.0,120.0,175.0,83.0,40.0,43.0,31.0,13.0,18.0,583.0,142.0,441.0,9.0,7.0,2.0,2886.0,1700.0,1186.0,41.0,24.0,17.0,63.0,20.0,43.0,2120.0,1971.0,0.0735467,44746404.0,C,rs12459810,snp,,"[{'distance_to_feature': '2317', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_005178.4', 'feature_type': 'transcript', 'gene_id': 'BCL3', 'genename': 'BCL3', 'hgvs_c': 'c.-2387C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'CEACAM16-BCL3', 'feature_type': 'intergenic_region', 'gene_id': 'CEACAM16-BCL3', 'genename': 'CEACAM16-BCL3', 'hgvs_c': 'n.44746404C>T', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44747899A>C,17.123571,19,True,CA16572822,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.465, 'alspac': 0.608, 'dbgap_popfreq': 0.565, 'estonian': 0.624, 'genome_dk': 0.725, 'gnomad': 0.502, 'hapmap': 0.432, 'korea1k': 0.567, 'korean': 0.568, 'northernsweden': 0.635, 'qatari': 0.389, 'sgdp_prj': 0.28, 'siberian': 0.441, 'tommo': 0.647, 'topmed': 0.482, 'twinsuk': 0.594, 'vietnamese': 0.629}}, {'allele': 'C', 'freq': {'1000g': 0.535, 'alspac': 0.392, 'dbgap_popfreq': 0.435, 'estonian': 0.376, 'genome_dk': 0.275, 'gnomad': 0.498, 'hapmap': 0.568, 'korea1k': 0.433, 'korean': 0.432, 'northernsweden': 0.365, 'qatari': 0.611, 'sgdp_prj': 0.72, 'siberian': 0.559, 'tommo': 0.353, 'topmed': 0.518, 'twinsuk': 0.406, 'vietnamese': 0.371}}]",C,19,155.0,602.0,False,BCL3 transcription coactivator,"[{'protein_product': {'refseq': 'NP_005169.2'}, 'refseq': 'NM_005178.5', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}, {'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_011527197.2:c.-71=', 'protein_product': {'refseq': 'XP_011525499.2'}, 'refseq': 'XM_011527197.2', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}, {'codon_aligned_transcript_change': {'deleted_sequence': 'GAG', 'inserted_sequence': 'GAG', 'position': 536, 'seq_id': 'XM_011527198.3'}, 'hgvs': 'XM_011527198.3:c.341=', 'protein': {'variant': {'spdi': {'deleted_sequence': 'E', 'inserted_sequence': 'E', 'position': 113, 'seq_id': 'XP_011525500.2'}}}, 'protein_product': {'refseq': 'XP_011525500.2'}, 'refseq': 'XM_011527198.3', 'so': [{'accession': 'SO:0001580', 'name': 'coding_sequence_variant'}]}, {'protein_product': {'refseq': 'XP_011525502.1'}, 'refseq': 'XM_011527200.2', 'so': [{'accession': 'SO:0001986', 'name': 'upstream_transcript_variant'}, {'accession': 'SO:0002153', 'name': 'genic_upstream_transcript_variant'}]}, {'hgvs': 'XM_017027109.1:c.-94=', 'protein_product': {'refseq': 'XP_016882598.1'}, 'refseq': 'XM_017027109.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}, {'hgvs': 'XM_017027110.1:c.-94=', 'protein_product': {'refseq': 'XP_016882599.1'}, 'refseq': 'XM_017027110.1', 'so': [{'accession': 'SO:0001623', 'name': '5_prime_UTR_variant'}]}]",+,BCL3,44747899.0,44747899.0,A,rs2965169,snv,44747899.0,44747899.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44747899,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,74926.0,28372.0,15174.0,13198.0,316.0,161.0,155.0,8378.0,3750.0,4628.0,1902.0,993.0,909.0,2054.0,875.0,1179.0,3644.0,862.0,2782.0,161.0,80.0,81.0,26661.0,15464.0,11197.0,1066.0,521.0,545.0,2372.0,603.0,1769.0,38483.0,36443.0,0.494183,0.687007,0.687789,0.686109,0.348786,0.342553,0.355505,0.548945,0.553587,0.54524,0.548759,0.532725,0.567416,0.401015,0.389235,0.41023,0.346586,0.339103,0.348971,0.512739,0.493827,0.532895,0.393056,0.393907,0.391887,0.510048,0.505825,0.514151,0.49273,0.517153,0.484923,0.496068,0.492207,C,C,151616.0,41298.0,22062.0,19236.0,906.0,470.0,436.0,15262.0,6774.0,8488.0,3466.0,1864.0,1602.0,5122.0,2248.0,2874.0,10514.0,2542.0,7972.0,314.0,162.0,152.0,67830.0,39258.0,28572.0,2090.0,1030.0,1060.0,4814.0,1166.0,3648.0,77576.0,74040.0,0.0,59.9942,-0.023,1.0,19.89,0.289,0.6911,22.6169,19,19775.0,9714.0,5215.0,4499.0,57.0,26.0,31.0,2277.0,1022.0,1255.0,512.0,250.0,262.0,413.0,161.0,252.0,620.0,150.0,470.0,40.0,19.0,21.0,5256.0,3048.0,2208.0,296.0,139.0,157.0,590.0,161.0,429.0,10191.0,9584.0,0.0675932,44747899.0,A,rs2965169,snp,"[19229118, 25374339]","[{'distance_to_feature': '822', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_005178.4', 'feature_type': 'transcript', 'gene_id': 'BCL3', 'genename': 'BCL3', 'hgvs_c': 'c.-892A>C', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'CEACAM16-BCL3', 'feature_type': 'intergenic_region', 'gene_id': 'CEACAM16-BCL3', 'genename': 'CEACAM16-BCL3', 'hgvs_c': 'n.44747899A>C', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2008-05-26T00:23Z', 'rsid': 'rs60240082', 'rv': 130}, {'date': '2009-12-2T15:53Z', 'rsid': 'rs74253321', 'rv': 131}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44750234C>G,17.123255,19,True,CA308862986,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.804, 'dbgap_popfreq': 0.853, 'estonian': 0.841, 'genome_dk': 0.825, 'gnomad': 0.834, 'gonl': 0.874, 'hapmap': 0.804, 'korea1k': 0.834, 'korean': 0.829, 'northernsweden': 0.878, 'qatari': 0.833, 'sgdp_prj': 0.425, 'siberian': 0.438, 'tommo': 0.872, 'topmed': 0.828, 'vietnamese': 0.915}}, {'allele': 'T', 'freq': {'1000g': 0.196, 'dbgap_popfreq': 0.147, 'estonian': 0.159, 'genome_dk': 0.175, 'gnomad': 0.166, 'gonl': 0.126, 'hapmap': 0.196, 'korea1k': 0.166, 'korean': 0.171, 'northernsweden': 0.122, 'qatari': 0.167, 'sgdp_prj': 0.575, 'siberian': 0.562, 'tommo': 0.128, 'topmed': 0.172, 'vietnamese': 0.085}}]",G,19,155.0,602.0,False,BCL3 transcription coactivator,"[{'hgvs': 'NM_005178.5:c.257-993=', 'protein_product': {'refseq': 'NP_005169.2'}, 'refseq': 'NM_005178.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527197.2:c.512-993=', 'protein_product': {'refseq': 'XP_011525499.2'}, 'refseq': 'XM_011527197.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527198.3:c.923-993=', 'protein_product': {'refseq': 'XP_011525500.2'}, 'refseq': 'XM_011527198.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527200.2:c.-33+129=', 'protein_product': {'refseq': 'XP_011525502.1'}, 'refseq': 'XM_011527200.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017027109.1:c.137-993=', 'protein_product': {'refseq': 'XP_016882598.1'}, 'refseq': 'XM_017027109.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017027110.1:c.137-993=', 'protein_product': {'refseq': 'XP_016882599.1'}, 'refseq': 'XM_017027110.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BCL3,44750234.0,44750234.0,C,rs10401176,snv,44750234.0,44750234.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_005178.4,transcript,BCL3,BCL3,c.257-993C>G,,,,MODIFIER,1,8,protein_coding,G,44750234,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44750234C>T,17.122793,19,True,CA14740503,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.804, 'dbgap_popfreq': 0.853, 'estonian': 0.841, 'genome_dk': 0.825, 'gnomad': 0.834, 'gonl': 0.874, 'hapmap': 0.804, 'korea1k': 0.834, 'korean': 0.829, 'northernsweden': 0.878, 'qatari': 0.833, 'sgdp_prj': 0.425, 'siberian': 0.438, 'tommo': 0.872, 'topmed': 0.828, 'vietnamese': 0.915}}, {'allele': 'T', 'freq': {'1000g': 0.196, 'dbgap_popfreq': 0.147, 'estonian': 0.159, 'genome_dk': 0.175, 'gnomad': 0.166, 'gonl': 0.126, 'hapmap': 0.196, 'korea1k': 0.166, 'korean': 0.171, 'northernsweden': 0.122, 'qatari': 0.167, 'sgdp_prj': 0.575, 'siberian': 0.562, 'tommo': 0.128, 'topmed': 0.172, 'vietnamese': 0.085}}]",T,19,155.0,602.0,False,BCL3 transcription coactivator,"[{'hgvs': 'NM_005178.5:c.257-993=', 'protein_product': {'refseq': 'NP_005169.2'}, 'refseq': 'NM_005178.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527197.2:c.512-993=', 'protein_product': {'refseq': 'XP_011525499.2'}, 'refseq': 'XM_011527197.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527198.3:c.923-993=', 'protein_product': {'refseq': 'XP_011525500.2'}, 'refseq': 'XM_011527198.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011527200.2:c.-33+129=', 'protein_product': {'refseq': 'XP_011525502.1'}, 'refseq': 'XM_011527200.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017027109.1:c.137-993=', 'protein_product': {'refseq': 'XP_016882598.1'}, 'refseq': 'XM_017027109.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_017027110.1:c.137-993=', 'protein_product': {'refseq': 'XP_016882599.1'}, 'refseq': 'XM_017027110.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BCL3,44750234.0,44750234.0,C,rs10401176,snv,44750234.0,44750234.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_005178.4,transcript,BCL3,BCL3,c.257-993C>T,,,,MODIFIER,1,8,protein_coding,T,44750234,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,25368.0,10413.0,5556.0,4857.0,40.0,20.0,20.0,2559.0,1204.0,1355.0,615.0,306.0,309.0,605.0,249.0,356.0,1057.0,282.0,775.0,41.0,25.0,16.0,8466.0,4865.0,3601.0,339.0,176.0,163.0,1233.0,323.0,910.0,13006.0,12362.0,0.166877,0.251789,0.251266,0.25239,0.043956,0.0425532,0.0454545,0.167605,0.177529,0.159675,0.177131,0.163812,0.192643,0.11675,0.109306,0.12259,0.0998677,0.109728,0.0967058,0.129747,0.152439,0.105263,0.12446,0.123615,0.125619,0.162046,0.170213,0.154064,0.256128,0.277015,0.249452,0.167172,0.166568,T,T,152016.0,41356.0,22112.0,19244.0,910.0,470.0,440.0,15268.0,6782.0,8486.0,3472.0,1868.0,1604.0,5182.0,2278.0,2904.0,10584.0,2570.0,8014.0,316.0,164.0,152.0,68022.0,39356.0,28666.0,2092.0,1034.0,1058.0,4814.0,1166.0,3648.0,77800.0,74216.0,1.44649e-15,59.9905,-0.035,1.0,15.7624,-0.014,0.697311,12.4651,19,2389.0,1278.0,671.0,607.0,0.0,0.0,0.0,225.0,105.0,120.0,47.0,22.0,25.0,38.0,11.0,27.0,47.0,15.0,32.0,3.0,2.0,1.0,547.0,313.0,234.0,34.0,17.0,17.0,170.0,53.0,117.0,1209.0,1180.0,0.0265514,44750234.0,C,rs10401176,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44794671A>G,17.123945,19,True,CA15949791,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.545, 'alspac': 0.65, 'dbgap_popfreq': 0.606, 'estonian': 0.626, 'genome_dk': 0.675, 'gnomad': 0.558, 'gonl': 0.646, 'korea1k': 0.62, 'korean': 0.615, 'northernsweden': 0.582, 'qatari': 0.662, 'sgdp_prj': 0.358, 'siberian': 0.289, 'tommo': 0.658, 'topmed': 0.548, 'twinsuk': 0.652}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.455, 'alspac': 0.35, 'dbgap_popfreq': 0.394, 'estonian': 0.374, 'genome_dk': 0.325, 'gnomad': 0.442, 'gonl': 0.354, 'korea1k': 0.38, 'korean': 0.385, 'northernsweden': 0.418, 'qatari': 0.338, 'sgdp_prj': 0.642, 'siberian': 0.711, 'tommo': 0.342, 'topmed': 0.452, 'twinsuk': 0.348}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",G,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1224+390=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1362+390=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0001987', 'name': 'downstream_transcript_variant'}, {'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1362+390=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1224+390=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44794671.0,44794671.0,A,rs2889414,snv,44794671.0,44794671.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44794671,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,65635.0,26414.0,14068.0,12346.0,345.0,190.0,155.0,6006.0,2780.0,3226.0,1446.0,787.0,659.0,1802.0,797.0,1005.0,3273.0,853.0,2420.0,84.0,43.0,41.0,23637.0,13662.0,9975.0,860.0,413.0,447.0,1768.0,442.0,1326.0,34035.0,31600.0,0.435447,0.644024,0.641847,0.646523,0.379956,0.405983,0.352273,0.397643,0.414554,0.384139,0.417678,0.422664,0.411875,0.355284,0.354222,0.35613,0.315561,0.336622,0.308752,0.269231,0.26875,0.269737,0.349412,0.349108,0.349828,0.413859,0.40411,0.423295,0.371429,0.385017,0.36711,0.440856,0.429768,G,G,150730.0,41014.0,21918.0,19096.0,908.0,468.0,440.0,15104.0,6706.0,8398.0,3462.0,1862.0,1600.0,5072.0,2250.0,2822.0,10372.0,2534.0,7838.0,312.0,160.0,152.0,67648.0,39134.0,28514.0,2078.0,1022.0,1056.0,4760.0,1148.0,3612.0,77202.0,73528.0,0.0,59.9247,-0.025,1.0,19.4019,0.311,0.675204,7.1127,19,15645.0,8511.0,4520.0,3991.0,62.0,37.0,25.0,1226.0,589.0,637.0,310.0,168.0,142.0,327.0,139.0,188.0,517.0,137.0,380.0,14.0,8.0,6.0,4153.0,2395.0,1758.0,181.0,84.0,97.0,344.0,90.0,254.0,8167.0,7478.0,0.0749797,44794671.0,A,rs2889414,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1362+390A>G', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1224+390A>G', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2003-02-20T13:15Z,rs2965116,111.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44794671A>C,17.123772,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.545, 'alspac': 0.65, 'dbgap_popfreq': 0.606, 'estonian': 0.626, 'genome_dk': 0.675, 'gnomad': 0.558, 'gonl': 0.646, 'korea1k': 0.62, 'korean': 0.615, 'northernsweden': 0.582, 'qatari': 0.662, 'sgdp_prj': 0.358, 'siberian': 0.289, 'tommo': 0.658, 'topmed': 0.548, 'twinsuk': 0.652}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.455, 'alspac': 0.35, 'dbgap_popfreq': 0.394, 'estonian': 0.374, 'genome_dk': 0.325, 'gnomad': 0.442, 'gonl': 0.354, 'korea1k': 0.38, 'korean': 0.385, 'northernsweden': 0.418, 'qatari': 0.338, 'sgdp_prj': 0.642, 'siberian': 0.711, 'tommo': 0.342, 'topmed': 0.452, 'twinsuk': 0.348}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1224+390=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1362+390=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0001987', 'name': 'downstream_transcript_variant'}, {'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1362+390=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1224+390=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44794671.0,44794671.0,A,rs2889414,snv,44794671.0,44794671.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44794671,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1362+390A>C', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1224+390A>C', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2003-02-20T13:15Z,rs2965116,111.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44794671A>T,17.123388,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.545, 'alspac': 0.65, 'dbgap_popfreq': 0.606, 'estonian': 0.626, 'genome_dk': 0.675, 'gnomad': 0.558, 'gonl': 0.646, 'korea1k': 0.62, 'korean': 0.615, 'northernsweden': 0.582, 'qatari': 0.662, 'sgdp_prj': 0.358, 'siberian': 0.289, 'tommo': 0.658, 'topmed': 0.548, 'twinsuk': 0.652}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.455, 'alspac': 0.35, 'dbgap_popfreq': 0.394, 'estonian': 0.374, 'genome_dk': 0.325, 'gnomad': 0.442, 'gonl': 0.354, 'korea1k': 0.38, 'korean': 0.385, 'northernsweden': 0.418, 'qatari': 0.338, 'sgdp_prj': 0.642, 'siberian': 0.711, 'tommo': 0.342, 'topmed': 0.452, 'twinsuk': 0.348}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0}}]",T,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1224+390=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1362+390=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0001987', 'name': 'downstream_transcript_variant'}, {'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1362+390=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1224+390=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44794671.0,44794671.0,A,rs2889414,snv,44794671.0,44794671.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,44794671,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1362+390A>T', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1224+390A>T', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2003-02-20T13:15Z,rs2965116,111.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44794812G>A,17.123714,19,True,CA308903359,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.855, 'alspac': 0.935, 'dbgap_popfreq': 0.922, 'estonian': 0.908, 'genome_dk': 0.9, 'gonl': 0.912, 'hapmap': 0.81, 'hgdp_stanford': 0.861, 'korea1k': 0.892, 'korean': 0.89, 'northernsweden': 0.945, 'prjeb36033': 0.837, 'qatari': 0.824, 'sgdp_prj': 0.398, 'siberian': 0.333, 'tommo': 0.907, 'topmed': 0.861, 'twinsuk': 0.93, 'vietnamese': 0.938}}, {'allele': 'A', 'freq': {'1000g': 0.145, 'alspac': 0.065, 'dbgap_popfreq': 0.078, 'estonian': 0.092, 'genome_dk': 0.1, 'gonl': 0.088, 'hapmap': 0.19, 'hgdp_stanford': 0.139, 'korea1k': 0.108, 'korean': 0.11, 'northernsweden': 0.055, 'prjeb36033': 0.163, 'qatari': 0.176, 'sgdp_prj': 0.602, 'siberian': 0.667, 'tommo': 0.093, 'topmed': 0.139, 'twinsuk': 0.07, 'vietnamese': 0.062}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",A,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1224+531=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1362+531=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1362+531=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1224+531=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44794812.0,44794812.0,G,rs10419669,snv,44794812.0,44794812.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,44794812,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,21017.0,11875.0,6319.0,5556.0,102.0,54.0,48.0,1223.0,592.0,631.0,258.0,131.0,127.0,471.0,214.0,257.0,1298.0,300.0,998.0,25.0,12.0,13.0,4925.0,2793.0,2132.0,288.0,149.0,139.0,552.0,135.0,417.0,10699.0,10318.0,0.138699,0.28834,0.287201,0.289647,0.112088,0.114894,0.109091,0.0805453,0.0877037,0.0748162,0.0743516,0.0701285,0.0792759,0.0918845,0.0946903,0.089672,0.123407,0.116732,0.125566,0.0796178,0.0740741,0.0855263,0.0725075,0.0710796,0.0744673,0.137931,0.14438,0.131629,0.114713,0.115979,0.114309,0.137923,0.139512,A,A,151530.0,41184.0,22002.0,19182.0,910.0,470.0,440.0,15184.0,6750.0,8434.0,3470.0,1868.0,1602.0,5126.0,2260.0,2866.0,10518.0,2570.0,7948.0,314.0,162.0,152.0,67924.0,39294.0,28630.0,2088.0,1032.0,1056.0,4812.0,1164.0,3648.0,77572.0,73958.0,0.0,59.9885,-0.05,1.0,15.5196,0.386,0.682923,19.677,19,2155.0,1716.0,905.0,811.0,6.0,3.0,3.0,61.0,28.0,33.0,8.0,4.0,4.0,23.0,12.0,11.0,92.0,18.0,74.0,1.0,1.0,0.0,183.0,104.0,79.0,24.0,12.0,12.0,41.0,9.0,32.0,1096.0,1059.0,0.0779507,44794812.0,G,rs10419669,snp,20072119,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1362+531G>A', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1224+531G>A', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-27T02:29Z,rs61432948,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44794812G>C,17.12325,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.855, 'alspac': 0.935, 'dbgap_popfreq': 0.922, 'estonian': 0.908, 'genome_dk': 0.9, 'gonl': 0.912, 'hapmap': 0.81, 'hgdp_stanford': 0.861, 'korea1k': 0.892, 'korean': 0.89, 'northernsweden': 0.945, 'prjeb36033': 0.837, 'qatari': 0.824, 'sgdp_prj': 0.398, 'siberian': 0.333, 'tommo': 0.907, 'topmed': 0.861, 'twinsuk': 0.93, 'vietnamese': 0.938}}, {'allele': 'A', 'freq': {'1000g': 0.145, 'alspac': 0.065, 'dbgap_popfreq': 0.078, 'estonian': 0.092, 'genome_dk': 0.1, 'gonl': 0.088, 'hapmap': 0.19, 'hgdp_stanford': 0.139, 'korea1k': 0.108, 'korean': 0.11, 'northernsweden': 0.055, 'prjeb36033': 0.163, 'qatari': 0.176, 'sgdp_prj': 0.602, 'siberian': 0.667, 'tommo': 0.093, 'topmed': 0.139, 'twinsuk': 0.07, 'vietnamese': 0.062}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1224+531=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1362+531=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1362+531=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1224+531=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44794812.0,44794812.0,G,rs10419669,snv,44794812.0,44794812.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44794812,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1.0,1.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,6.59709e-06,2.42683e-05,4.54339e-05,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.28883e-05,0.0,C,C,151582.0,41206.0,22010.0,19196.0,910.0,470.0,440.0,15196.0,6758.0,8438.0,3470.0,1868.0,1602.0,5130.0,2260.0,2870.0,10528.0,2570.0,7958.0,314.0,162.0,152.0,67928.0,39296.0,28632.0,2088.0,1032.0,1056.0,4812.0,1164.0,3648.0,77590.0,73992.0,,60.0,0.094,1.0,18.4043,-0.848,0.728003,3.9828,19,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-6.67572e-06,44794812.0,G,,snp,20072119,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1362+531G>C', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1224+531G>C', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-27T02:29Z,rs61432948,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44797831T>C,17.123676,19,True,CA14715542,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.878, 'alspac': 0.94, 'dbgap_popfreq': 0.947, 'estonian': 0.871, 'genome_dk': 0.875, 'gnomad': 0.897, 'gonl': 0.935, 'korea1k': 0.974, 'korean': 0.978, 'northernsweden': 0.938, 'qatari': 0.917, 'sgdp_prj': 0.463, 'siberian': 0.417, 'tommo': 0.963, 'topmed': 0.896, 'twinsuk': 0.932, 'vietnamese': 0.928}}, {'allele': 'C', 'freq': {'1000g': 0.122, 'alspac': 0.06, 'dbgap_popfreq': 0.053, 'estonian': 0.129, 'genome_dk': 0.125, 'gnomad': 0.103, 'gonl': 0.065, 'korea1k': 0.026, 'korean': 0.022, 'northernsweden': 0.062, 'qatari': 0.083, 'sgdp_prj': 0.537, 'siberian': 0.583, 'tommo': 0.037, 'topmed': 0.104, 'twinsuk': 0.068, 'vietnamese': 0.072}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1225-2550=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1363-2550=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1363-2348=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1225-2348=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44797831.0,44797831.0,T,rs28534944,snv,44797831.0,44797831.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44797831,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,15868.0,5878.0,3131.0,2747.0,28.0,16.0,12.0,2030.0,899.0,1131.0,236.0,125.0,111.0,174.0,76.0,98.0,890.0,214.0,676.0,31.0,17.0,14.0,5480.0,3124.0,2356.0,213.0,109.0,104.0,908.0,235.0,673.0,7946.0,7922.0,0.104578,0.142435,0.141918,0.143028,0.0307018,0.0340426,0.0271493,0.133482,0.132988,0.133878,0.06809,0.0670601,0.0692884,0.0337209,0.0334507,0.0339335,0.0842484,0.0833983,0.0845211,0.0987261,0.103659,0.0933333,0.0806523,0.0794709,0.0822741,0.102305,0.106445,0.0982987,0.188617,0.201544,0.184485,0.10232,0.106944,C,C,151734.0,41268.0,22062.0,19206.0,912.0,470.0,442.0,15208.0,6760.0,8448.0,3466.0,1864.0,1602.0,5160.0,2272.0,2888.0,10564.0,2566.0,7998.0,314.0,164.0,150.0,67946.0,39310.0,28636.0,2082.0,1024.0,1058.0,4814.0,1166.0,3648.0,77658.0,74076.0,0.0,59.9621,0.0,1.0,19.5042,-0.044,0.691114,6.4272,19,906.0,398.0,208.0,190.0,1.0,0.0,1.0,139.0,58.0,81.0,12.0,6.0,6.0,4.0,3.0,1.0,26.0,3.0,23.0,1.0,1.0,0.0,218.0,117.0,101.0,11.0,10.0,1.0,96.0,28.0,68.0,434.0,472.0,0.012581,44797831.0,T,rs28534944,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1363-2550T>C', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1225-2550T>C', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44797831T>G,17.122793,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.878, 'alspac': 0.94, 'dbgap_popfreq': 0.947, 'estonian': 0.871, 'genome_dk': 0.875, 'gnomad': 0.897, 'gonl': 0.935, 'korea1k': 0.974, 'korean': 0.978, 'northernsweden': 0.938, 'qatari': 0.917, 'sgdp_prj': 0.463, 'siberian': 0.417, 'tommo': 0.963, 'topmed': 0.896, 'twinsuk': 0.932, 'vietnamese': 0.928}}, {'allele': 'C', 'freq': {'1000g': 0.122, 'alspac': 0.06, 'dbgap_popfreq': 0.053, 'estonian': 0.129, 'genome_dk': 0.125, 'gnomad': 0.103, 'gonl': 0.065, 'korea1k': 0.026, 'korean': 0.022, 'northernsweden': 0.062, 'qatari': 0.083, 'sgdp_prj': 0.537, 'siberian': 0.583, 'tommo': 0.037, 'topmed': 0.104, 'twinsuk': 0.068, 'vietnamese': 0.072}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",G,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1225-2550=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1363-2550=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1363-2348=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1225-2348=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44797831.0,44797831.0,T,rs28534944,snv,44797831.0,44797831.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44797831,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1363-2550T>G', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1225-2550T>G', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44798170_44798172dup,17.123701,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'CTG', 'freq': {'1000g': 0.877, 'alspac': 0.898, 'dbgap_popfreq': 0.878, 'estonian': 0.873, 'genome_dk': 0.8, 'gnomad': 0.868, 'gonl': 0.872, 'korea1k': 0.91, 'northernsweden': 0.92, 'tommo': 0.928, 'topmed': 0.869, 'twinsuk': 0.901, 'vietnamese': 0.944}}, {'allele': 'CTGCTG', 'freq': {'1000g': 0.123, 'alspac': 0.102, 'dbgap_popfreq': 0.122, 'estonian': 0.127, 'genome_dk': 0.2, 'gnomad': 0.132, 'gonl': 0.128, 'korea1k': 0.09, 'northernsweden': 0.08, 'tommo': 0.072, 'topmed': 0.131, 'twinsuk': 0.099, 'vietnamese': 0.056}}]",CTGCTG,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1225-2211=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1363-2211=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1363-2009=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1225-2009=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,,,CTG,rs139576276,delins,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2013-05-16T02:16Z,rs371599854,138.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44799247G>A,17.123459,19,True,CA308906264,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.996, 'alspac': 0.977, 'dbgap_popfreq': 0.979, 'estonian': 0.958, 'gnomad': 0.987, 'gonl': 0.98, 'northernsweden': 0.978, 'siberian': 0.5, 'topmed': 0.989, 'twinsuk': 0.975}}, {'allele': 'A', 'freq': {'1000g': 0.004, 'alspac': 0.023, 'dbgap_popfreq': 0.021, 'estonian': 0.042, 'gnomad': 0.013, 'gonl': 0.02, 'northernsweden': 0.022, 'siberian': 0.5, 'topmed': 0.011, 'twinsuk': 0.025}}]",A,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1225-1134=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1363-1134=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1363-932=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1225-932=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44799247.0,44799247.0,G,rs148933445,snv,44799247.0,44799247.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,44799247,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1866.0,120.0,70.0,50.0,0.0,0.0,0.0,57.0,28.0,29.0,81.0,49.0,32.0,0.0,0.0,0.0,172.0,54.0,118.0,0.0,0.0,0.0,1415.0,852.0,563.0,15.0,8.0,7.0,6.0,1.0,5.0,1062.0,804.0,0.0122586,0.00289422,0.00315999,0.00258933,0.0,0.0,0.0,0.00373085,0.00412614,0.00341498,0.0233295,0.0262313,0.0199501,0.0,0.0,0.0,0.0161837,0.020979,0.0146511,0.0,0.0,0.0,0.0207972,0.0216485,0.019629,0.00716332,0.00773694,0.00660377,0.00124172,0.000857633,0.00136388,0.0136427,0.0108099,A,A,152220.0,41462.0,22152.0,19310.0,910.0,470.0,440.0,15278.0,6786.0,8492.0,3472.0,1868.0,1604.0,5190.0,2274.0,2916.0,10628.0,2574.0,8054.0,316.0,164.0,152.0,68038.0,39356.0,28682.0,2094.0,1034.0,1060.0,4832.0,1166.0,3666.0,77844.0,74376.0,9.64327e-16,59.9647,0.0,1.0,13.8456,0.334,0.676802,6.6153,19,19.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,2.0,1.0,1.0,0.0,0.0,0.0,1.0,1.0,0.0,0.0,0.0,0.0,16.0,13.0,3.0,0.0,0.0,0.0,0.0,0.0,0.0,15.0,4.0,0.00819498,44799247.0,G,rs148933445,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1363-1134G>A', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1225-1134G>A', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44799256A>G,17.123573,19,True,CA14715545,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.756, 'alspac': 0.883, 'dbgap_popfreq': 0.822, 'estonian': 0.84, 'genome_dk': 0.725, 'gnomad': 0.794, 'gonl': 0.87, 'korea1k': 0.855, 'korean': 0.858, 'northernsweden': 0.905, 'qatari': 0.741, 'sgdp_prj': 0.374, 'siberian': 0.462, 'tommo': 0.871, 'topmed': 0.787, 'twinsuk': 0.878, 'vietnamese': 0.773}}, {'allele': 'G', 'freq': {'1000g': 0.244, 'alspac': 0.117, 'dbgap_popfreq': 0.178, 'estonian': 0.16, 'genome_dk': 0.275, 'gnomad': 0.206, 'gonl': 0.13, 'korea1k': 0.145, 'korean': 0.142, 'northernsweden': 0.095, 'qatari': 0.259, 'sgdp_prj': 0.626, 'siberian': 0.538, 'tommo': 0.129, 'topmed': 0.213, 'twinsuk': 0.122, 'vietnamese': 0.227}}]",G,19,155.0,23624.0,False,Cbl proto-oncogene C,"[{'hgvs': 'NM_001130852.1:c.1225-1125=', 'protein_product': {'refseq': 'NP_001124324.1'}, 'refseq': 'NM_001130852.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_012116.4:c.1363-1125=', 'protein_product': {'refseq': 'NP_036248.3'}, 'refseq': 'NM_012116.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_005258753.1'}, 'refseq': 'XM_005258696.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'hgvs': 'XM_011526688.2:c.1363-923=', 'protein_product': {'refseq': 'XP_011524990.1'}, 'refseq': 'XM_011526688.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_011526689.2:c.1225-923=', 'protein_product': {'refseq': 'XP_011524991.1'}, 'refseq': 'XM_011526689.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'protein_product': {'refseq': 'XP_011524992.1'}, 'refseq': 'XM_011526690.2', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_243917.3', 'so': [{'accession': 'SO:0002152', 'name': 'genic_downstream_transcript_variant'}]}, {'refseq': 'XR_935783.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CBLC,44799256.0,44799256.0,A,rs2965112,snv,44799256.0,44799256.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44799256,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,31213.0,15425.0,8196.0,7229.0,116.0,63.0,53.0,2865.0,1298.0,1567.0,448.0,224.0,224.0,769.0,335.0,434.0,1108.0,265.0,843.0,46.0,24.0,22.0,8631.0,4909.0,3722.0,429.0,231.0,198.0,1376.0,352.0,1024.0,15897.0,15316.0,0.205514,0.373053,0.370524,0.375962,0.127193,0.134043,0.11991,0.187869,0.191898,0.184657,0.129181,0.120172,0.139651,0.149436,0.148757,0.149965,0.104627,0.103435,0.105007,0.14557,0.146341,0.144737,0.127027,0.124924,0.129913,0.20546,0.224272,0.187146,0.285833,0.303448,0.280241,0.204642,0.206426,G,G,151878.0,41348.0,22120.0,19228.0,912.0,470.0,442.0,15250.0,6764.0,8486.0,3468.0,1864.0,1604.0,5146.0,2252.0,2894.0,10590.0,2562.0,8028.0,316.0,164.0,152.0,67946.0,39296.0,28650.0,2088.0,1030.0,1058.0,4814.0,1160.0,3654.0,77682.0,74196.0,0.522994,59.9663,-0.027,1.0,16.1367,0.352,0.744654,4.485,19,4125.0,2897.0,1519.0,1378.0,7.0,3.0,4.0,280.0,125.0,155.0,27.0,12.0,15.0,60.0,28.0,32.0,57.0,12.0,45.0,3.0,3.0,0.0,536.0,294.0,242.0,50.0,31.0,19.0,208.0,54.0,154.0,2081.0,2044.0,0.0744976,44799256.0,A,rs2965112,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_012116.3', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1363-1125A>G', 'putative_impact': 'MODIFIER', 'rank': '9', 'total': '10', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001130852.1', 'feature_type': 'transcript', 'gene_id': 'CBLC', 'genename': 'CBLC', 'hgvs_c': 'c.1225-1125A>G', 'putative_impact': 'MODIFIER', 'rank': '8', 'total': '9', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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17319831]","[{'cdna': {'length': '2453', 'position': '1681'}, 'cds': {'length': '1887', 'position': '1615'}, 'effect': 'missense_variant', 'feature_id': 'NM_005581.4', 'feature_type': 'transcript', 'gene_id': 'BCAM', 'genename': 'BCAM', 'hgvs_c': 'c.1615A>G', 'hgvs_p': 'p.Thr539Ala', 'protein': {'length': '628', 'position': '539'}, 'putative_impact': 'MODERATE', 'rank': '12', 'total': '15', 'transcript_biotype': 'protein_coding'}, {'cdna': {'length': '3431', 'position': '1681'}, 'cds': {'length': '1767', 'position': '1615'}, 'effect': 'missense_variant', 'feature_id': 'NM_001013257.2', 'feature_type': 'transcript', 'gene_id': 'BCAM', 'genename': 'BCAM', 'hgvs_c': 'c.1615A>G', 'hgvs_p': 'p.Thr539Ala', 'protein': {'length': '588', 'position': '539'}, 'putative_impact': 'MODERATE', 'rank': '12', 'total': '14', 'transcript_biotype': 'protein_coding'}]",http://bit.ly/2SQdcI0,15478.0,G,19,19q13.32,4059,BCAM,45322744.0,45322744.0,44819487.0,44819487.0,"['LRG_798t2:c.1615A>G', 'NM_001013257.2:c.1615A>G', 'NM_005581.5:c.1615A>G']","['LRG_798:g.15407A>G', 'NC_000019.10:g.44819487A>G', 'NC_000019.9:g.45322744A>G', 'NG_007480.1:g.15407A>G']","['LRG_798p2:p.Thr539Ala', 'NP_001013275.1:p.Thr539Ala', 'NP_005572.2:p.Thr539Ala', 'P50895:p.Thr539Ala']",RCV000000468,Benign,,,AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b),,2007-03-01,1.0,germline,NM_005581.5(BCAM):c.1615A>G (p.Thr539Ala),no assertion criteria provided,A,rs1135062,single nucleotide variant,439.0,A,Benign,439,NC_000019.10:g.44819487A>G,,,no_assertion_criteria_provided,AUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b),"['Immunoglobulin-like domain|Immunoglobulin subtype', 'Immunoglobulin-like domain|Immunoglobulin subtype']",,,,,0.22328,0.199316265874,,,,benign,,VAR_021354,P50895,Polymorphism,AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b),MIM:612773,rs1135062,612773.0002,,,"['OMIM_Allelic_Variant:612773.0002', 'UniProtKB_(protein):P50895#VAR_021354']",,,,,,,,,,,,,"http://www.ncbi.nlm.nih.gov/sites/varvu?gene=4059&rs=1135062|http://www.ncbi.nlm.nih.gov/omim/111200,111200|http://omim.org/entry/612773#0002|http://omim.org/entry/111200#0002","[{'accession': 'NM_005581.4', 'symbol': 'BCAM'}, {'accession': 'NM_001013257.2', 'symbol': 'BCAM'}]",,,,,,,,2603.0,8615.0,6012.0,776.0,,2872.0,,2096.0,,,"[{'date': '2004-10-8T08:33Z', 'rsid': 'rs11548861', 'rv': 123}, {'date': '2004-09-24T19:27Z', 'rsid': 'rs11880954', 'rv': 123}, {'date': '2004-10-8T08:33Z', 'rsid': 'rs16979448', 'rv': 123}, {'date': '2008-05-24T10:02Z', 'rsid': 'rs58063257', 'rv': 130}]",1051.0,2871.0,1820.0,,"['+', '+']",,"[{'gene': 'NECTIN2', 'tissue': 'Liver'}]",,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44820881G>A,17.123442,19,True,CA9505000,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.852, 'alspac': 0.688, 'dbgap_popfreq': 0.723, 'estonian': 0.738, 'exac': 0.659, 'genome_dk': 0.605, 'gnomad': 0.786, 'gnomad_exomes': 0.761, 'goesp': 0.777, 'korea1k': 0.939, 'korean': 0.926, 'mgp': 0.807, 'northernsweden': 0.648, 'page_study': 0.873, 'qatari': 0.685, 'sgdp_prj': 0.449, 'siberian': 0.438, 'tommo': 0.934, 'topmed': 0.796, 'twinsuk': 0.691, 'vietnamese': 0.952}}, {'allele': 'A', 'freq': {'1000g': 0.148, 'alspac': 0.312, 'dbgap_popfreq': 0.277, 'estonian': 0.262, 'exac': 0.341, 'genome_dk': 0.395, 'gnomad': 0.214, 'gnomad_exomes': 0.239, 'goesp': 0.223, 'korea1k': 0.061, 'korean': 0.074, 'mgp': 0.193, 'northernsweden': 0.352, 'page_study': 0.127, 'qatari': 0.315, 'sgdp_prj': 0.551, 'siberian': 0.562, 'tommo': 0.066, 'topmed': 0.204, 'twinsuk': 0.309, 'vietnamese': 0.048}}]",A,19,155.0,4059.0,False,basal cell adhesion molecule (Lutheran blood group),"[{'hgvs': 'NM_001013257.2:c.*1093-35=', 'protein_product': {'refseq': 'NP_001013275.1'}, 'refseq': 'NM_001013257.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_005581.5:c.1882-35=', 'protein_product': {'refseq': 'NP_005572.2'}, 'refseq': 'NM_005581.5', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,BCAM,44820881.0,44820881.0,G,rs28399637,snv,44820881.0,44820881.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,44820881,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,39182.0,535.0,325.0,210.0,4480.0,2559.0,1921.0,2505.0,1182.0,1323.0,708.0,347.0,6.0,154.0,361.0,548.0,17729.0,4372.0,2299.0,2073.0,21453.0,20302.0,297.0,51.0,9238.0,11064.0,10640.0,5958.0,1083.0,2273.0,1228.0,592.0,636.0,5052.0,1187.0,3865.0,0.239268,0.055166,0.0530352,0.0588235,0.179819,0.177486,0.183022,0.305861,0.304012,0.307531,0.0574675,0.0565699,0.0638298,0.0659811,0.0583576,0.0553983,0.232061,0.27615,0.282155,0.269781,0.24557,0.309227,0.260984,0.265625,0.309958,0.308619,0.315521,0.301946,0.28666,0.320502,0.278332,0.273063,0.283422,0.222183,0.207881,0.226979,A,A,163758.0,9698.0,6128.0,3570.0,24914.0,14418.0,10496.0,8190.0,3888.0,4302.0,12320.0,6134.0,94.0,2334.0,6186.0,9892.0,76398.0,15832.0,8148.0,7684.0,87360.0,65654.0,1138.0,192.0,29804.0,35850.0,33722.0,19732.0,3778.0,7092.0,4412.0,2168.0,2244.0,22738.0,5710.0,17028.0,0.662,19,0.049,2922967.0,0.0,5372.0,7.0,1.0,6.0,428.0,238.0,190.0,394.0,188.0,206.0,18.0,11.0,0.0,4.0,7.0,14.0,2382.0,582.0,304.0,278.0,2990.0,3139.0,38.0,5.0,1422.0,1717.0,1708.0,886.0,150.0,352.0,183.0,80.0,103.0,621.0,138.0,483.0,0.0826,60.0,0.142,1.0,44820881.0,16.72,0.263,G,0.940327,rs28399637,0.716,snp,5.48,MQ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2QAcvkh,,4062.0,,10067.0,,6005.0,A,35.0,A,19.0,"[1887, 1767]",-8.8,0.0,125.0,,PASS,intron,,,,,1890.0,,,4002.0,,,2112.0,,45324138.0,45324138.0,44820881.0,44820881.0,,,7.1331,22.2505,29.9627,no,u,n,G,G,rs28399637,http://bit.ly/2I1cl1I,32728.0,2647.0,1441.0,1206.0,311.0,169.0,142.0,3003.0,1335.0,1668.0,1116.0,594.0,522.0,315.0,145.0,170.0,2982.0,736.0,2246.0,108.0,59.0,49.0,20734.0,11880.0,8854.0,475.0,217.0,258.0,1037.0,238.0,799.0,16814.0,15914.0,0.215239,0.0639341,0.065127,0.0625648,0.341758,0.361111,0.321267,0.196737,0.197019,0.196513,0.321429,0.317987,0.325436,0.060717,0.0635408,0.0584997,0.28095,0.286381,0.279214,0.341772,0.359756,0.322368,0.305073,0.302136,0.309105,0.227273,0.210271,0.243856,0.214522,0.204467,0.217711,0.216202,0.214232,A,A,152054.0,41402.0,22126.0,19276.0,910.0,468.0,442.0,15264.0,6776.0,8488.0,3472.0,1868.0,1604.0,5188.0,2282.0,2906.0,10614.0,2570.0,8044.0,316.0,164.0,152.0,67964.0,39320.0,28644.0,2090.0,1032.0,1058.0,4834.0,1164.0,3670.0,77770.0,74284.0,0.0,59.9966,0.0,1.0,16.3842,0.415,0.701407,22.1507,19,4399.0,109.0,61.0,48.0,54.0,29.0,25.0,295.0,125.0,170.0,171.0,91.0,80.0,8.0,3.0,5.0,446.0,110.0,336.0,17.0,10.0,7.0,3134.0,1755.0,1379.0,58.0,23.0,35.0,107.0,22.0,85.0,2229.0,2170.0,0.0686548,44820881.0,G,rs28399637,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_005581.4', 'feature_type': 'transcript', 'gene_id': 'BCAM', 'genename': 'BCAM', 'hgvs_c': 'c.1882-35G>A', 'putative_impact': 'MODIFIER', 'rank': '14', 'total': '14', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001013257.2', 'feature_type': 'transcript', 'gene_id': 'BCAM', 'genename': 'BCAM', 'hgvs_c': 'c.*1093-35G>A', 'putative_impact': 'MODIFIER', 'rank': '13', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'accession': 'NM_005581.4', 'symbol': 'BCAM'}, {'accession': 'NM_001013257.2', 'symbol': 'BCAM'}]",,,,,,,"[{'coding': 'c.1882-35G>A'}, {'coding': 'c.*1151G>A'}]",312.0,2881.0,2569.0,15.0,282.0,409.0,2063.0,394.0,1781.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44829584T>C,17.123674,19,True,CA16572843,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.738, 'alspac': 0.764, 'dbgap_popfreq': 0.786, 'estonian': 0.769, 'genome_dk': 0.725, 'gnomad': 0.766, 'gonl': 0.758, 'korea1k': 0.808, 'korean': 0.791, 'northernsweden': 0.757, 'qatari': 0.819, 'sgdp_prj': 0.43, 'siberian': 0.45, 'tommo': 0.81, 'twinsuk': 0.78}}, {'allele': 'C', 'freq': {'1000g': 0.262, 'alspac': 0.236, 'dbgap_popfreq': 0.214, 'estonian': 0.231, 'genome_dk': 0.275, 'gnomad': 0.234, 'gonl': 0.242, 'korea1k': 0.192, 'korean': 0.209, 'northernsweden': 0.243, 'qatari': 0.181, 'sgdp_prj': 0.57, 'siberian': 0.55, 'tommo': 0.19, 'twinsuk': 0.22}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,,,,,,,44829584.0,44829584.0,T,rs34978331,snv,44829584.0,44829584.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BCAM-NECTIN2,intergenic_region,BCAM-NECTIN2,BCAM-NECTIN2,n.44829584T>C,,,,MODIFIER,,,,C,44829584,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,35841.0,9531.0,5091.0,4440.0,123.0,62.0,61.0,4056.0,1804.0,2252.0,627.0,345.0,282.0,1007.0,437.0,570.0,2531.0,609.0,1922.0,72.0,36.0,36.0,15762.0,9077.0,6685.0,495.0,254.0,241.0,1637.0,382.0,1255.0,18097.0,17744.0,0.236856,0.231684,0.23162,0.231757,0.135463,0.131915,0.139269,0.26868,0.268133,0.26912,0.180796,0.185086,0.17581,0.194552,0.192172,0.196416,0.241784,0.239011,0.242677,0.229299,0.219512,0.24,0.232265,0.23112,0.233839,0.237752,0.248047,0.227788,0.340474,0.32931,0.344024,0.233552,0.240323,C,C,151320.0,41138.0,21980.0,19158.0,908.0,470.0,438.0,15096.0,6728.0,8368.0,3468.0,1864.0,1604.0,5176.0,2274.0,2902.0,10468.0,2548.0,7920.0,314.0,164.0,150.0,67862.0,39274.0,28588.0,2082.0,1024.0,1058.0,4808.0,1160.0,3648.0,77486.0,73834.0,1.44649e-15,59.963,-0.017,1.0,16.0416,0.348,0.692069,5.7255,19,4314.0,1086.0,589.0,497.0,14.0,6.0,8.0,553.0,245.0,308.0,56.0,34.0,22.0,91.0,42.0,49.0,320.0,82.0,238.0,8.0,5.0,3.0,1870.0,1059.0,811.0,47.0,25.0,22.0,269.0,64.0,205.0,2151.0,2163.0,0.00587386,44829584.0,T,rs34978331,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T10:27Z,rs56753016,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44848259C>G,17.123672,19,True,CA308887303,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.992, 'alspac': 0.962, 'dbgap_popfreq': 0.972, 'estonian': 0.975, 'genome_dk': 0.925, 'gnomad': 0.974, 'gonl': 0.955, 'northernsweden': 0.958, 'sgdp_prj': 0.5, 'siberian': 0.0, 'topmed': 0.979, 'twinsuk': 0.957}}, {'allele': 'G', 'freq': {'1000g': 0.008, 'alspac': 0.038, 'dbgap_popfreq': 0.028, 'estonian': 0.025, 'genome_dk': 0.075, 'gnomad': 0.026, 'gonl': 0.045, 'northernsweden': 0.042, 'sgdp_prj': 0.5, 'siberian': 1.0, 'topmed': 0.021, 'twinsuk': 0.043}}]",G,19,155.0,5819.0,False,nectin cell adhesion molecule 2,"[{'hgvs': 'NM_001042724.2:c.88+1646=', 'protein_product': {'refseq': 'NP_001036189.1'}, 'refseq': 'NM_001042724.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_002856.3:c.88+1646=', 'protein_product': {'refseq': 'NP_002847.1'}, 'refseq': 'NM_002856.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,NECTIN2,44848259.0,44848259.0,C,rs41289512,snv,44848259.0,44848259.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44848259,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,3910.0,256.0,124.0,132.0,0.0,0.0,0.0,179.0,86.0,93.0,165.0,82.0,83.0,1.0,0.0,1.0,667.0,138.0,529.0,3.0,3.0,0.0,2575.0,1445.0,1130.0,36.0,19.0,17.0,28.0,9.0,19.0,1906.0,2004.0,0.0257007,0.00617552,0.00559617,0.0068408,0.0,0.0,0.0,0.0117101,0.0126657,0.0109463,0.0475504,0.0439443,0.0517456,0.000193349,0.0,0.000344353,0.0628297,0.0536131,0.0657797,0.00949367,0.0182927,0.0,0.0378688,0.0367255,0.0394388,0.0172414,0.0184466,0.0160681,0.0057995,0.00773196,0.00518559,0.0244893,0.0269696,G,G,152136.0,41454.0,22158.0,19296.0,908.0,470.0,438.0,15286.0,6790.0,8496.0,3470.0,1866.0,1604.0,5172.0,2268.0,2904.0,10616.0,2574.0,8042.0,316.0,164.0,152.0,67998.0,39346.0,28652.0,2088.0,1030.0,1058.0,4828.0,1164.0,3664.0,77830.0,74306.0,0.0,59.9964,-0.022,1.0,13.5131,0.319,0.709668,22.041,19,81.0,2.0,0.0,2.0,0.0,0.0,0.0,2.0,2.0,0.0,6.0,3.0,3.0,0.0,0.0,0.0,21.0,4.0,17.0,0.0,0.0,0.0,50.0,31.0,19.0,0.0,0.0,0.0,0.0,0.0,0.0,40.0,41.0,0.0165048,44848259.0,C,rs41289512,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001042724.1', 'feature_type': 'transcript', 'gene_id': 'NECTIN2', 'genename': 'NECTIN2', 'hgvs_c': 'c.88+1646C>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_002856.2', 'feature_type': 'transcript', 'gene_id': 'NECTIN2', 'genename': 'NECTIN2', 'hgvs_c': 'c.88+1646C>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '5', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44849162G>C,17.123714,19,True,CA14644131,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.725, 'alspac': 0.6, 'dbgap_popfreq': 0.657, 'genome_dk': 0.7, 'gnomad': 0.685, 'gonl': 0.629, 'hapmap': 0.779, 'korean': 0.789, 'northernsweden': 0.592, 'qatari': 0.755, 'sgdp_prj': 0.376, 'siberian': 0.389, 'tommo': 0.796, 'topmed': 0.696, 'twinsuk': 0.61, 'vietnamese': 0.769}}, {'allele': 'C', 'freq': {'1000g': 0.275, 'alspac': 0.4, 'dbgap_popfreq': 0.343, 'genome_dk': 0.3, 'gnomad': 0.315, 'gonl': 0.371, 'hapmap': 0.221, 'korean': 0.211, 'northernsweden': 0.408, 'qatari': 0.245, 'sgdp_prj': 0.624, 'siberian': 0.611, 'tommo': 0.204, 'topmed': 0.304, 'twinsuk': 0.39, 'vietnamese': 0.231}}]",C,19,155.0,5819.0,False,nectin cell adhesion molecule 2,"[{'hgvs': 'NM_001042724.2:c.88+2549=', 'protein_product': {'refseq': 'NP_001036189.1'}, 'refseq': 'NM_001042724.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_002856.3:c.88+2549=', 'protein_product': {'refseq': 'NP_002847.1'}, 'refseq': 'NM_002856.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,NECTIN2,44849162.0,44849162.0,G,rs7255063,snv,44849162.0,44849162.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44849162,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,48332.0,6400.0,3433.0,2967.0,333.0,165.0,168.0,5685.0,2469.0,3216.0,1208.0,658.0,550.0,1012.0,449.0,563.0,4225.0,1016.0,3209.0,88.0,46.0,42.0,26729.0,15516.0,11213.0,690.0,335.0,355.0,1962.0,473.0,1489.0,24560.0,23772.0,0.31843,0.154851,0.15548,0.15413,0.365132,0.351064,0.38009,0.373571,0.365453,0.380052,0.348529,0.353383,0.342893,0.196124,0.197623,0.194945,0.399943,0.395023,0.401527,0.278481,0.280488,0.276316,0.393502,0.39493,0.391543,0.331412,0.326511,0.336174,0.40807,0.408463,0.407945,0.316299,0.320663,C,C,151782.0,41330.0,22080.0,19250.0,912.0,470.0,442.0,15218.0,6756.0,8462.0,3466.0,1862.0,1604.0,5160.0,2272.0,2888.0,10564.0,2572.0,7992.0,316.0,164.0,152.0,67926.0,39288.0,28638.0,2082.0,1026.0,1056.0,4808.0,1158.0,3650.0,77648.0,74134.0,4.82164e-16,59.9955,-0.025,1.0,17.371,0.339,0.67653,22.8113,19,8641.0,479.0,257.0,222.0,57.0,28.0,29.0,1123.0,469.0,654.0,214.0,124.0,90.0,95.0,48.0,47.0,863.0,203.0,660.0,12.0,7.0,5.0,5264.0,3083.0,2181.0,129.0,61.0,68.0,405.0,109.0,296.0,4389.0,4252.0,0.0580328,44849162.0,G,rs7255063,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001042724.1', 'feature_type': 'transcript', 'gene_id': 'NECTIN2', 'genename': 'NECTIN2', 'hgvs_c': 'c.88+2549G>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '8', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_002856.2', 'feature_type': 'transcript', 'gene_id': 'NECTIN2', 'genename': 'NECTIN2', 'hgvs_c': 'c.88+2549G>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '5', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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'protein_coding'}]",http://bit.ly/2SQdcI0,32887.0,T,19,19q13.32,348,APOE,45412079.0,45412079.0,44908822.0,44908822.0,"['NM_000041.4:c.526C>T', 'NM_001302688.2:c.604C>T', 'NM_001302689.2:c.526C>T', 'NM_001302690.2:c.526C>T', 'NM_001302691.2:c.526C>T']","['NC_000019.10:g.44908822C>T', 'NC_000019.9:g.45412079C>T', 'NG_007084.2:g.8041C>T']","['NP_000032.1:p.Arg176Cys', 'NP_001289617.1:p.Arg202Cys', 'NP_001289618.1:p.Arg176Cys', 'NP_001289619.1:p.Arg176Cys', 'NP_001289620.1:p.Arg176Cys', 'P02649:p.Arg176Cys']",,,,,,,,,,,,C,rs7412,single nucleotide variant,17848.0,C,drug_response,17848,NC_000019.10:g.44908822C>T,"['C1522133', 'C0750384', 'C0020479', 'CN236484', 'CN517202']",ORPHA412,reviewed_by_expert_panel,"['Hypercholesterolemia', 'Warfarin_response', 'Familial_type_3_hyperlipoproteinemia', 'atorvastatin_response_-_Efficacy', 'not_provided']",,0.50451,0.0,D,0.000104,0.92409,1.86219841494,2002-07-3T13:34Z,rs3200542,106.0,"pathogenic,drug response,other",Hyperlipoproteinemia3 (HLPP3) [MIM:617347],VAR_000664,P02649,Disease,"['Apolipoproteinemia E1', 'APOE2 ISOFORMS']",MIM:107741,rs7412,107741.0021,"[{'accession': 'RCV000019428', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0020479', 'mondo': 'MONDO:0018473', 'omim': '617347'}, 'name': 'Familial type 3 hyperlipoproteinemia', 'synonyms': ['Hyperlipoproteinemia type 3', 'Hyperlipoproteinemia type III', 'Dysbetalipoproteinemia', 'Familial dysbetalipoproteinemia', 'Broad beta disease', 'Remnant removal disease', 'Broad-betalipoproteinemia', 'Apolipoprotein e, deficiency or defect of', 'Dysbetalipoproteinemia due to defect in apolipoprotein e-d', 'Familial hyperbeta- and prebetalipoproteinemia', 'Familial hypercholesterolemia with hyperlipemia', 'Floating-betalipoproteinemia', 'Hyperlipemia with familial hypercholesterolemic xanthomatosis']}, 'last_evaluated': '2005-10-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019439', 'clinical_significance': 'Pathogenic', 'conditions': {'name': 'Apolipoproteinemia E1'}, 'last_evaluated': '1984-04-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019452', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0020479', 'mondo': 'MONDO:0018473', 'omim': '617347'}, 'name': 'Familial type 3 hyperlipoproteinemia', 'synonyms': ['Hyperlipoproteinemia type 3', 'Hyperlipoproteinemia type III', 'Dysbetalipoproteinemia', 'Familial dysbetalipoproteinemia', 'Broad beta disease', 'Remnant removal disease', 'Broad-betalipoproteinemia', 'Apolipoprotein e, deficiency or defect of', 'Dysbetalipoproteinemia due to defect in apolipoprotein e-d', 'Familial hyperbeta- and prebetalipoproteinemia', 'Familial hypercholesterolemia with hyperlipemia', 'Floating-betalipoproteinemia', 'Hyperlipemia with familial hypercholesterolemic xanthomatosis']}, 'last_evaluated': '2017-02-21', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019454', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0020479', 'mondo': 'MONDO:0018473', 'omim': '617347'}, 'name': 'Familial type 3 hyperlipoproteinemia', 'synonyms': ['Hyperlipoproteinemia type 3', 'Hyperlipoproteinemia type III', 'Dysbetalipoproteinemia', 'Familial dysbetalipoproteinemia', 'Broad beta disease', 'Remnant removal disease', 'Broad-betalipoproteinemia', 'Apolipoprotein e, deficiency or defect of', 'Dysbetalipoproteinemia due to defect in apolipoprotein e-d', 'Familial hyperbeta- and prebetalipoproteinemia', 'Familial hypercholesterolemia with hyperlipemia', 'Floating-betalipoproteinemia', 'Hyperlipemia with familial hypercholesterolemic xanthomatosis']}, 'last_evaluated': '1993-05-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000211178', 'clinical_significance': 'drug response', 'conditions': {'identifiers': {'medgen': 'CN236484'}, 'name': 'atorvastatin response - Efficacy'}, 'last_evaluated': '2021-03-24', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'reviewed by expert panel'}, {'accession': 'RCV000346955', 'clinical_significance': 'other; risk factor', 'conditions': {'identifiers': {'medgen': 'CN517202'}, 'name': 'not provided', 'synonyms': ['none provided']}, 'last_evaluated': '2016-02-11', 'number_submitters': 4, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000825286', 'clinical_significance': 'Uncertain significance', 'conditions': {'identifiers': {'medgen': 'CN169374'}, 'name': 'not specified', 'synonyms': ['AllHighlyPenetrant']}, 'last_evaluated': '2019-01-18', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV000845582', 'clinical_significance': 'drug response', 'conditions': {'identifiers': {'medgen': 'C0750384', 'mondo': 'MONDO:0007390', 'omim': '122700'}, 'name': 'Warfarin response', 'synonyms': ['COUMARIN SENSITIVITY', 'COUMARIN, POOR METABOLISM OF', 'WARFARIN RESISTANCE', 'Coumarin resistance', 'Cyp2a6, v1', 'Warfarin sensitivity', 'Coumadin response']}, 'last_evaluated': '2010-08-31', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV001262472', 'clinical_significance': 'Benign', 'conditions': {'identifiers': {'human_phenotype_ontology': 'HP:0008359', 'medgen': 'C0020443', 'mesh': 'D006937'}, 'name': 'Hypercholesterolemia', 'synonyms': ['Primary hypercholesterolemia', 'Hypercholesterolaemia']}, 'last_evaluated': '2019-01-01', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001529800', 'clinical_significance': 'Benign', 'conditions': {'identifiers': {'medgen': 'CN169374'}, 'name': 'not specified', 'synonyms': ['AllHighlyPenetrant']}, 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.2(APOE):c.526C>T (p.Arg176Cys)', 'review_status': 'no assertion criteria provided'}]","['122700', '617347']","['Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_84', 'Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9115001', 'OMIM_Allelic_Variant:107741.0001', 'OMIM_Allelic_Variant:107741.0009', 'OMIM_Allelic_Variant:107741.0019', 'OMIM_Allelic_Variant:107741.0021', 'PharmGKB_Clinical_Annotation:1183492249', 'PharmGKB:1183492249', 'PharmGKB:1183492249PA448500', 'UniProtKB_(protein):P02649#VAR_000664']",,,,,,,,,,271.0,627.0,356.0,"http://www.ncbi.nlm.nih.gov/sites/varvu?gene=348&rs=7412|http://www.ncbi.nlm.nih.gov/omim/107741,107741|http://omim.org/entry/107741#0015|http://omim.org/entry/107741#0001|http://www.ncbi.nlm.nih.gov/pubmed?term=22286219,22331829,23067351",,,8.0,,14.0,,6.0,,,,,,,,,,,,,,,,,"['+', '+', '+', '+']",,"[{'gene': 'APOE', 'tissue': 'Skin_Not_Sun_Exposed_Suprapubic'}]",,,,255.0,599.0,344.0,"http://www.ncbi.nlm.nih.gov/pubmed?term=22286219,22331829,23067351",,,,,,,,,,,,,,,,,
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hyperlipemia', 'Floating-betalipoproteinemia', 'Hyperlipemia with familial hypercholesterolemic xanthomatosis']}, 'last_evaluated': '2017-02-14', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019448', 'clinical_significance': 'Conflicting interpretations of pathogenicity', 'conditions': {'identifiers': {'medgen': 'C1863051', 'mondo': 'MONDO:0007089', 'omim': '104310', 'orphanet': '1020'}, 'name': 'Alzheimer disease 2 (AD2)', 'synonyms': ['ALZHEIMER DISEASE 2, LATE-ONSET', 'ALZHEIMER DISEASE ASSOCIATED WITH APOE4', 'Alzheimer disease associated with APOE E4', 'Late-onset familial alzheimer disease']}, 'last_evaluated': '2020-11-03', 'number_submitters': 2, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019455', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C0020479', 'mondo': 'MONDO:0018473', 'omim': '617347'}, 'name': 'Familial type 3 hyperlipoproteinemia', 'synonyms': ['Hyperlipoproteinemia type 3', 'Hyperlipoproteinemia type III', 'Dysbetalipoproteinemia', 'Familial dysbetalipoproteinemia', 'Broad beta disease', 'Remnant removal disease', 'Broad-betalipoproteinemia', 'Apolipoprotein e, deficiency or defect of', 'Dysbetalipoproteinemia due to defect in apolipoprotein e-d', 'Familial hyperbeta- and prebetalipoproteinemia', 'Familial hypercholesterolemia with hyperlipemia', 'Floating-betalipoproteinemia', 'Hyperlipemia with familial hypercholesterolemic xanthomatosis']}, 'last_evaluated': '1993-05-01', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019456', 'clinical_significance': 'Pathogenic', 'conditions': {'name': 'APOE4(-)-FREIBURG'}, 'last_evaluated': '2017-02-15', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000019458', 'clinical_significance': 'association', 'conditions': {'identifiers': {'medgen': 'C4479660'}, 'name': 'APOE5 VARIANT'}, 'last_evaluated': '2019-11-22', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000292119', 'clinical_significance': 'Likely pathogenic; other; risk factor', 'conditions': {'identifiers': {'medgen': 'CN517202'}, 'name': 'not provided', 'synonyms': ['none provided']}, 'last_evaluated': '2022-03-29', 'number_submitters': 3, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, multiple submitters, no conflicts'}, {'accession': 'RCV000825286', 'clinical_significance': 'Uncertain significance', 'conditions': {'identifiers': {'medgen': 'CN169374'}, 'name': 'not specified', 'synonyms': ['AllHighlyPenetrant']}, 'last_evaluated': '2019-01-18', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV000826089', 'clinical_significance': 'risk factor', 'conditions': {'identifiers': {'medgen': 'C0750901', 'mesh': 'D000544'}, 'name': 'Primary degenerative dementia of the Alzheimer type, presenile onset', 'synonyms': [""Early-onset Alzheimer's disease"", 'Alzheimer disease, early onset']}, 'last_evaluated': '2019-01-16', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV000845581', 'clinical_significance': 'drug response', 'conditions': {'identifiers': {'medgen': 'C0750384', 'mondo': 'MONDO:0007390', 'omim': '122700'}, 'name': 'Warfarin response', 'synonyms': ['COUMARIN SENSITIVITY', 'COUMARIN, POOR METABOLISM OF', 'WARFARIN RESISTANCE', 'Coumarin resistance', 'Cyp2a6, v1', 'Warfarin sensitivity', 'Coumadin response']}, 'last_evaluated': '2010-08-31', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV000991302', 'clinical_significance': 'Likely pathogenic', 'conditions': {'identifiers': {'human_phenotype_ontology': 'HP:0007213', 'medgen': 'C0002395', 'mondo': 'MONDO:0004975', 'orphanet': '1020'}, 'name': 'Alzheimer disease', 'synonyms': ['Presenile and senile dementia', ""Alzheimer's disease""]}, 'last_evaluated': '2019-06-27', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001175124', 'clinical_significance': 'Likely pathogenic', 'conditions': {'identifiers': {'medgen': 'C0020445', 'mondo': 'MONDO:0005439', 'omim': 'PS143890'}, 'name': 'Familial hypercholesterolemia (FH)'}, 'last_evaluated': '2020-05-27', 'number_submitters': 1, 'origin': 'germline', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'no assertion criteria provided'}, {'accession': 'RCV001195807', 'clinical_significance': 'Pathogenic', 'conditions': {'identifiers': {'medgen': 'C1847200', 'mondo': 'MONDO:0011743', 'omim': '606889', 'orphanet': '1020'}, 'name': 'Alzheimer disease 4', 'synonyms': ['Alzheimer disease familial type 4']}, 'last_evaluated': '2020-03-24', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, single submitter'}, {'accession': 'RCV001262791', 'clinical_significance': 'Uncertain significance', 'conditions': {'identifiers': {'medgen': 'C2673196', 'mondo': 'MONDO:0012725', 'omim': '611771', 'orphanet': '329481'}, 'name': 'Lipoprotein glomerulopathy (LPG)'}, 'last_evaluated': '2019-01-01', 'number_submitters': 1, 'origin': 'unknown', 'preferred_name': 'NM_000041.4(APOE):c.388T>C (p.Cys130Arg)', 'review_status': 'criteria provided, single submitter'}]","['104300', '104310', '122700', '606889', '611771']","['Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_865', 'Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9115002', 'OMIM_Allelic_Variant:107741.0008', 'OMIM_Allelic_Variant:107741.0016', 'OMIM_Allelic_Variant:107741.0022', 'OMIM_Allelic_Variant:107741.0023', 'OMIM_Allelic_Variant:107741.0025', 'UniProtKB_(protein):P02649#VAR_000652']",,,,,,,,,,3460.0,10721.0,7261.0,"http://www.ncbi.nlm.nih.gov/sites/varvu?gene=348&rs=429358|http://www.ncbi.nlm.nih.gov/omim/104310,107741,107741|http://omim.org/entry/107741#0016|http://omim.org/entry/107741#0015|http://omim.org/entry/107741#0008|http://www.ncbi.nlm.nih.gov/pubmed?term=21123754",,636.0,1412.0,1465.0,4628.0,829.0,3216.0,,,,,,,,,,,,"[{'date': '2000-09-19T13:56Z', 'rsid': 'rs630496', 'rv': 85}, {'date': '2008-05-26T20:59Z', 'rsid': 'rs61228756', 'rv': 130}]",,,,,"['+', '+', '+', '+']",ENSG00000130204,"[{'gene': 'APOC1', 'tissue': 'Adrenal_Gland'}, {'gene': 'APOC1', 'tissue': 'Esophagus_Mucosa'}, {'gene': 'AC011481.2', 'tissue': 'Esophagus_Muscularis'}, {'gene': 'AC243964.3', 'tissue': 'Thyroid'}]",,,,,,,http://www.ncbi.nlm.nih.gov/pubmed?term=21123754,,,,,,,,,,,,,,,,,
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+chr19:g.44910319C>T,17.123592,19,True,CA14703615,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.844, 'alspac': 0.782, 'dbgap_popfreq': 0.822, 'estonian': 0.804, 'genome_dk': 0.625, 'gnomad': 0.825, 'gonl': 0.785, 'korea1k': 0.858, 'korean': 0.859, 'northernsweden': 0.807, 'page_study': 0.853, 'qatari': 0.917, 'sgdp_prj': 0.455, 'siberian': 0.417, 'tommo': 0.873, 'topmed': 0.835, 'twinsuk': 0.797, 'vietnamese': 0.796}}, {'allele': 'G', 'freq': {'korean': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.156, 'alspac': 0.218, 'dbgap_popfreq': 0.178, 'estonian': 0.196, 'genome_dk': 0.375, 'gnomad': 0.175, 'gonl': 0.215, 'korea1k': 0.142, 'korean': 0.141, 'northernsweden': 0.193, 'page_study': 0.147, 'qatari': 0.083, 'sgdp_prj': 0.545, 'siberian': 0.583, 'tommo': 0.127, 'topmed': 0.165, 'twinsuk': 0.203, 'vietnamese': 0.204}}]",T,19,155.0,,,,,,,44910319.0,44910319.0,C,rs75627662,snv,44910319.0,44910319.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,44910319,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,26105.0,6645.0,3533.0,3112.0,134.0,73.0,61.0,1866.0,838.0,1028.0,524.0,283.0,241.0,930.0,404.0,526.0,2236.0,535.0,1701.0,24.0,11.0,13.0,12904.0,7389.0,5515.0,299.0,146.0,153.0,543.0,126.0,417.0,13338.0,12767.0,0.17214,0.161091,0.160387,0.161898,0.14693,0.155319,0.138009,0.122699,0.124038,0.121628,0.151183,0.151987,0.150249,0.179675,0.177817,0.181129,0.213196,0.209148,0.214502,0.0759494,0.0670732,0.0855263,0.189943,0.187967,0.192657,0.143199,0.141748,0.144612,0.11289,0.108808,0.114184,0.171864,0.172429,T,T,151650.0,41250.0,22028.0,19222.0,912.0,470.0,442.0,15208.0,6756.0,8452.0,3466.0,1862.0,1604.0,5176.0,2272.0,2904.0,10488.0,2558.0,7930.0,316.0,164.0,152.0,67936.0,39310.0,28626.0,2088.0,1030.0,1058.0,4810.0,1158.0,3652.0,77608.0,74042.0,0.522732,59.9846,-0.021,1.0,15.6477,0.198,0.725136,5.3541,19,2381.0,574.0,308.0,266.0,8.0,6.0,2.0,121.0,59.0,62.0,41.0,22.0,19.0,80.0,31.0,49.0,239.0,59.0,180.0,2.0,0.0,2.0,1260.0,717.0,543.0,20.0,10.0,10.0,36.0,11.0,25.0,1223.0,1158.0,0.0128498,44910319.0,C,rs75627662,snp,,"[{'distance_to_feature': '3928', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001321065.1', 'feature_type': 'transcript', 'gene_id': 'APOC1', 'genename': 'APOC1', 'hgvs_c': 'c.-4573C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '3928', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001321066.1', 'feature_type': 'transcript', 'gene_id': 'APOC1', 'genename': 'APOC1', 'hgvs_c': 'c.-4573C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '4236', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_001645.4', 'feature_type': 'transcript', 'gene_id': 'APOC1', 'genename': 'APOC1', 'hgvs_c': 'c.-4573C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '924', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001302688.1', 'feature_type': 'transcript', 'gene_id': 'APOE', 'genename': 'APOE', 'hgvs_c': 'c.*1069C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '924', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_000041.3', 'feature_type': 'transcript', 'gene_id': 'APOE', 'genename': 'APOE', 'hgvs_c': 'c.*1069C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '924', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001302691.1', 'feature_type': 'transcript', 'gene_id': 'APOE', 'genename': 'APOE', 'hgvs_c': 'c.*1069C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '924', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001302689.1', 'feature_type': 'transcript', 'gene_id': 'APOE', 'genename': 'APOE', 'hgvs_c': 'c.*1069C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'distance_to_feature': '924', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_001302690.1', 'feature_type': 'transcript', 'gene_id': 'APOE', 'genename': 'APOE', 'hgvs_c': 'c.*1069C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'APOE-APOC1', 'feature_type': 'intergenic_region', 'gene_id': 'APOE-APOC1', 'genename': 'APOE-APOC1', 'hgvs_c': 'n.44910319C>T', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44924391C>G,17.123613,19,True,CA308901176,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.992, 'alspac': 0.982, 'dbgap_popfreq': 0.999, 'estonian': 0.995, 'gnomad': 0.988, 'gonl': 0.979, 'hapmap': 0.985, 'korea1k': 0.999, 'korean': 1.0, 'northernsweden': 0.973, 'prjeb36033': 0.976, 'qatari': 0.981, 'sgdp_prj': 0.5, 'topmed': 0.987, 'twinsuk': 0.984}}, {'allele': 'G', 'freq': {'1000g': 0.008, 'alspac': 0.018, 'dbgap_popfreq': 0.001, 'estonian': 0.005, 'gnomad': 0.012, 'gonl': 0.021, 'hapmap': 0.015, 'korea1k': 0.001, 'korean': 0.0, 'northernsweden': 0.027, 'prjeb36033': 0.024, 'qatari': 0.019, 'sgdp_prj': 0.5, 'topmed': 0.013, 'twinsuk': 0.016}}, {'allele': 'T', 'freq': {'dbgap_popfreq': 0.0, 'topmed': 0.0}}]",G,19,155.0,,,,,,,44924391.0,44924391.0,C,rs4803771,snv,44924391.0,44924391.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44924391,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1830.0,154.0,83.0,71.0,10.0,8.0,2.0,216.0,93.0,123.0,51.0,34.0,17.0,1.0,1.0,0.0,28.0,9.0,19.0,18.0,8.0,10.0,1298.0,791.0,507.0,30.0,17.0,13.0,24.0,4.0,20.0,1048.0,782.0,0.0120241,0.0037155,0.00374684,0.00367952,0.0109649,0.0170213,0.00452489,0.014138,0.0137087,0.0144808,0.0146974,0.0182013,0.0106117,0.00019253,0.000439754,0.0,0.00263803,0.00349922,0.0023626,0.056962,0.0487805,0.0657895,0.0190776,0.0200986,0.0176766,0.0143541,0.0164729,0.0122873,0.00496483,0.00343643,0.00544959,0.0134642,0.0105167,G,G,152194.0,41448.0,22152.0,19296.0,912.0,470.0,442.0,15278.0,6784.0,8494.0,3470.0,1868.0,1602.0,5194.0,2274.0,2920.0,10614.0,2572.0,8042.0,316.0,164.0,152.0,68038.0,39356.0,28682.0,2090.0,1032.0,1058.0,4834.0,1164.0,3670.0,77836.0,74358.0,1.92865e-15,59.9952,-0.044,1.0,13.9198,0.348,0.681108,22.4953,19,14.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,2.0,1.0,1.0,10.0,6.0,4.0,0.0,0.0,0.0,1.0,0.0,1.0,7.0,7.0,0.00332445,44924391.0,C,rs4803771,snp,,"[{'distance_to_feature': '2412', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_028412.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.-2412C>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'distance_to_feature': '2412', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_028413.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.-2412C>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'distance_to_feature': '2412', 'effect': 'upstream_gene_variant', 'feature_id': 'NR_028414.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.-2412C>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'effect': 'intergenic_region', 'feature_id': 'APOC1-APOC1P1', 'feature_type': 'intergenic_region', 'gene_id': 'APOC1-APOC1P1', 'genename': 'APOC1-APOC1P1', 'hgvs_c': 'n.44924391C>G', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44932959A>G,17.123459,19,True,CA14736093,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.628, 'dbgap_popfreq': 0.586, 'estonian': 0.525, 'genome_dk': 0.7, 'gnomad': 0.61, 'gonl': 0.587, 'korean': 0.645, 'northernsweden': 0.543, 'qatari': 0.708, 'sgdp_prj': 0.371, 'siberian': 0.341, 'tommo': 0.674, 'topmed': 0.622}}, {'allele': 'G', 'freq': {'1000g': 0.372, 'dbgap_popfreq': 0.414, 'estonian': 0.475, 'genome_dk': 0.3, 'gnomad': 0.39, 'gonl': 0.413, 'korean': 0.355, 'northernsweden': 0.457, 'qatari': 0.292, 'sgdp_prj': 0.629, 'siberian': 0.659, 'tommo': 0.326, 'topmed': 0.378}}]",G,19,155.0,,,,,,,44932959.0,44932959.0,A,rs7260330,snv,44932959.0,44932959.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44932959,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,59094.0,14300.0,7701.0,6599.0,423.0,212.0,211.0,5574.0,2425.0,3149.0,1400.0,747.0,653.0,1814.0,805.0,1009.0,4577.0,1125.0,3452.0,108.0,59.0,49.0,28375.0,16449.0,11926.0,841.0,422.0,419.0,1682.0,401.0,1281.0,30346.0,28748.0,0.388914,0.345678,0.348241,0.342734,0.464835,0.452991,0.477376,0.366036,0.358516,0.372046,0.404157,0.401182,0.407615,0.34898,0.353691,0.345311,0.43269,0.437063,0.431284,0.343949,0.364198,0.322368,0.417365,0.418082,0.416382,0.403551,0.408915,0.398289,0.349252,0.346287,0.350191,0.390282,0.387481,G,G,151946.0,41368.0,22114.0,19254.0,910.0,468.0,442.0,15228.0,6764.0,8464.0,3464.0,1862.0,1602.0,5198.0,2276.0,2922.0,10578.0,2574.0,8004.0,314.0,162.0,152.0,67986.0,39344.0,28642.0,2084.0,1032.0,1052.0,4816.0,1158.0,3658.0,77754.0,74192.0,4.82164e-16,56.9623,-1.254,1.0,18.4125,0.4,0.713743,-0.7764,19,11566.0,2425.0,1323.0,1102.0,92.0,48.0,44.0,979.0,408.0,571.0,276.0,148.0,128.0,306.0,133.0,173.0,987.0,249.0,738.0,24.0,13.0,11.0,5974.0,3447.0,2527.0,172.0,89.0,83.0,331.0,72.0,259.0,5930.0,5636.0,0.004722,44932959.0,A,rs7260330,snp,,"[{'distance_to_feature': '1573', 'effect': 'downstream_gene_variant', 'feature_id': 'NR_028412.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.*1573A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'distance_to_feature': '1573', 'effect': 'downstream_gene_variant', 'feature_id': 'NR_028413.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.*1573A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'distance_to_feature': '1573', 'effect': 'downstream_gene_variant', 'feature_id': 'NR_028414.1', 'feature_type': 'transcript', 'gene_id': 'APOC1P1', 'genename': 'APOC1P1', 'hgvs_c': 'n.*1573A>G', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'pseudogene'}, {'effect': 'intergenic_region', 'feature_id': 'APOC1P1-APOC4', 'feature_type': 'intergenic_region', 'gene_id': 'APOC1P1-APOC4', 'genename': 'APOC1P1-APOC4', 'hgvs_c': 'n.44932959A>G', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-24T00:16Z,rs57446968,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.44956594T>G,17.123945,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.429, 'dbgap_popfreq': 0.493, 'estonian': 0.485, 'genome_dk': 0.5, 'gnomad': 0.478, 'gonl': 0.565, 'hapmap': 0.475, 'korea1k': 0.465, 'korean': 0.462, 'northernsweden': 0.515, 'qatari': 0.481, 'sgdp_prj': 0.296, 'siberian': 0.28, 'tommo': 0.512, 'topmed': 0.465, 'vietnamese': 0.429}}, {'allele': 'C', 'freq': {'1000g': 0.571, 'dbgap_popfreq': 0.507, 'estonian': 0.515, 'genome_dk': 0.5, 'gnomad': 0.522, 'gonl': 0.435, 'hapmap': 0.525, 'korea1k': 0.535, 'korean': 0.538, 'northernsweden': 0.485, 'qatari': 0.519, 'sgdp_prj': 0.704, 'siberian': 0.72, 'tommo': 0.488, 'topmed': 0.535, 'vietnamese': 0.571}}, {'allele': 'G', 'freq': {'korean': 0.0}}]",G,19,155.0,1209.0,False,CLPTM1 regulator of GABA type A receptor forward trafficking,"[{'hgvs': 'NM_001282175.2:c.30+1509=', 'protein_product': {'refseq': 'NP_001269104.1'}, 'refseq': 'NM_001282175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282176.2:c.-235+1893=', 'protein_product': {'refseq': 'NP_001269105.1'}, 'refseq': 'NM_001282176.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001294.4:c.72+1127=', 'protein_product': {'refseq': 'NP_001285.1'}, 'refseq': 'NM_001294.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CLPTM1,44956594.0,44956594.0,T,rs2239375,snv,44956594.0,44956594.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44956594,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001294.3', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.72+1127T>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282176.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.-235+1893T>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282175.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.30+1509T>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44956594T>C,17.123186,19,True,CA15948751,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.429, 'dbgap_popfreq': 0.493, 'estonian': 0.485, 'genome_dk': 0.5, 'gnomad': 0.478, 'gonl': 0.565, 'hapmap': 0.475, 'korea1k': 0.465, 'korean': 0.462, 'northernsweden': 0.515, 'qatari': 0.481, 'sgdp_prj': 0.296, 'siberian': 0.28, 'tommo': 0.512, 'topmed': 0.465, 'vietnamese': 0.429}}, {'allele': 'C', 'freq': {'1000g': 0.571, 'dbgap_popfreq': 0.507, 'estonian': 0.515, 'genome_dk': 0.5, 'gnomad': 0.522, 'gonl': 0.435, 'hapmap': 0.525, 'korea1k': 0.535, 'korean': 0.538, 'northernsweden': 0.485, 'qatari': 0.519, 'sgdp_prj': 0.704, 'siberian': 0.72, 'tommo': 0.488, 'topmed': 0.535, 'vietnamese': 0.571}}, {'allele': 'G', 'freq': {'korean': 0.0}}]",C,19,155.0,1209.0,False,CLPTM1 regulator of GABA type A receptor forward trafficking,"[{'hgvs': 'NM_001282175.2:c.30+1509=', 'protein_product': {'refseq': 'NP_001269104.1'}, 'refseq': 'NM_001282175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282176.2:c.-235+1893=', 'protein_product': {'refseq': 'NP_001269105.1'}, 'refseq': 'NM_001282176.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001294.4:c.72+1127=', 'protein_product': {'refseq': 'NP_001285.1'}, 'refseq': 'NM_001294.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CLPTM1,44956594.0,44956594.0,T,rs2239375,snv,44956594.0,44956594.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,44956594,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,79531.0,25679.0,13711.0,11968.0,389.0,194.0,195.0,8806.0,3996.0,4810.0,1594.0,868.0,726.0,2878.0,1247.0,1631.0,5192.0,1288.0,3904.0,124.0,68.0,56.0,30994.0,17942.0,13052.0,1044.0,528.0,516.0,2831.0,681.0,2150.0,40523.0,39008.0,0.523754,0.621557,0.621025,0.622167,0.431264,0.418103,0.445205,0.577443,0.589554,0.567753,0.459631,0.465166,0.453184,0.556673,0.549339,0.562414,0.491946,0.502732,0.488488,0.392405,0.414634,0.368421,0.455955,0.456122,0.455726,0.501441,0.513619,0.489564,0.587832,0.588083,0.587753,0.521505,0.526111,C,C,151848.0,41314.0,22078.0,19236.0,902.0,464.0,438.0,15250.0,6778.0,8472.0,3468.0,1866.0,1602.0,5170.0,2270.0,2900.0,10554.0,2562.0,7992.0,316.0,164.0,152.0,67976.0,39336.0,28640.0,2082.0,1028.0,1054.0,4816.0,1158.0,3658.0,77704.0,74144.0,0.0,59.9971,-0.012,1.0,20.7766,0.371,0.691408,21.0212,19,21448.0,7971.0,4260.0,3711.0,87.0,45.0,42.0,2556.0,1187.0,1369.0,383.0,207.0,176.0,817.0,361.0,456.0,1293.0,326.0,967.0,22.0,15.0,7.0,7217.0,4198.0,3019.0,276.0,143.0,133.0,826.0,199.0,627.0,10941.0,10507.0,0.0332056,44956594.0,T,rs2239375,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001294.3', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.72+1127T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282176.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.-235+1893T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282175.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.30+1509T>C', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44957750A>G,17.123796,19,True,CA308884191,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.974, 'dbgap_popfreq': 0.924, 'estonian': 0.884, 'genome_dk': 0.875, 'gnomad': 0.944, 'gonl': 0.924, 'korea1k': 0.999, 'northernsweden': 0.89, 'page_study': 0.978, 'qatari': 0.968, 'sgdp_prj': 0.476, 'siberian': 0.5, 'topmed': 0.952, 'vietnamese': 0.995}}, {'allele': 'G', 'freq': {'1000g': 0.026, 'dbgap_popfreq': 0.076, 'estonian': 0.116, 'genome_dk': 0.125, 'gnomad': 0.056, 'gonl': 0.076, 'korea1k': 0.001, 'northernsweden': 0.11, 'page_study': 0.022, 'qatari': 0.032, 'sgdp_prj': 0.524, 'siberian': 0.5, 'topmed': 0.048, 'vietnamese': 0.005}}]",G,19,155.0,1209.0,False,CLPTM1 regulator of GABA type A receptor forward trafficking,"[{'hgvs': 'NM_001282175.2:c.30+2665=', 'protein_product': {'refseq': 'NP_001269104.1'}, 'refseq': 'NM_001282175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282176.2:c.-235+3049=', 'protein_product': {'refseq': 'NP_001269105.1'}, 'refseq': 'NM_001282176.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001294.4:c.72+2283=', 'protein_product': {'refseq': 'NP_001285.1'}, 'refseq': 'NM_001294.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CLPTM1,44957750.0,44957750.0,A,rs75178253,snv,44957750.0,44957750.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44957750,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,8413.0,505.0,267.0,238.0,83.0,49.0,34.0,582.0,257.0,325.0,255.0,140.0,115.0,2.0,0.0,2.0,1019.0,227.0,792.0,17.0,9.0,8.0,5671.0,3235.0,2436.0,92.0,44.0,48.0,187.0,44.0,143.0,4272.0,4141.0,0.0552839,0.0121828,0.012052,0.0123329,0.0910088,0.104255,0.0769231,0.0381189,0.0378609,0.0383255,0.073487,0.0750268,0.0716958,0.000384468,0.0,0.000684463,0.0960958,0.0883268,0.098581,0.0537975,0.054878,0.0526316,0.0833603,0.0821942,0.0849609,0.0439771,0.0426357,0.045283,0.0387003,0.0377358,0.0390071,0.0548762,0.055711,G,G,152178.0,41452.0,22154.0,19298.0,912.0,470.0,442.0,15268.0,6788.0,8480.0,3470.0,1866.0,1604.0,5202.0,2280.0,2922.0,10604.0,2570.0,8034.0,316.0,164.0,152.0,68030.0,39358.0,28672.0,2092.0,1032.0,1060.0,4832.0,1166.0,3666.0,77848.0,74330.0,9.64327e-16,59.9977,0.034,1.0,13.8073,0.354,0.682938,21.7434,19,334.0,4.0,2.0,2.0,4.0,3.0,1.0,9.0,4.0,5.0,14.0,6.0,8.0,0.0,0.0,0.0,47.0,8.0,39.0,0.0,0.0,0.0,250.0,132.0,118.0,0.0,0.0,0.0,6.0,0.0,6.0,155.0,179.0,0.026072,44957750.0,A,rs75178253,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001294.3', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.72+2283A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282176.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.-235+3049A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282175.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.30+2665A>G', 'putative_impact': 'MODIFIER', 'rank': '1', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44965872A>T,17.123255,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.978, 'alspac': 0.955, 'dbgap_popfreq': 0.962, 'estonian': 0.968, 'genome_dk': 0.925, 'gonl': 0.958, 'northernsweden': 0.965, 'page_study': 0.983, 'qatari': 0.963, 'sgdp_prj': 0.5, 'siberian': 0.5, 'topmed': 0.968, 'twinsuk': 0.955, 'vietnamese': 0.991}}, {'allele': 'G', 'freq': {'1000g': 0.022, 'alspac': 0.045, 'dbgap_popfreq': 0.038, 'estonian': 0.032, 'genome_dk': 0.075, 'gonl': 0.042, 'northernsweden': 0.035, 'page_study': 0.017, 'qatari': 0.037, 'sgdp_prj': 0.5, 'siberian': 0.5, 'topmed': 0.032, 'twinsuk': 0.045}}, {'allele': 'T', 'freq': {'vietnamese': 0.009}}]",T,19,155.0,1209.0,False,CLPTM1 regulator of GABA type A receptor forward trafficking,"[{'hgvs': 'NM_001282175.2:c.143+3797=', 'protein_product': {'refseq': 'NP_001269104.1'}, 'refseq': 'NM_001282175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282176.2:c.-122+3797=', 'protein_product': {'refseq': 'NP_001269105.1'}, 'refseq': 'NM_001282176.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001294.4:c.185+3797=', 'protein_product': {'refseq': 'NP_001285.1'}, 'refseq': 'NM_001294.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CLPTM1,44965872.0,44965872.0,A,rs145639166,snv,44965872.0,44965872.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,T,44965872,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,6.56883e-06,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.00019253,0.0,0.0003427,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.34445e-05,T,T,152234.0,41462.0,22154.0,19308.0,912.0,470.0,442.0,15284.0,6788.0,8496.0,3472.0,1868.0,1604.0,5194.0,2276.0,2918.0,10622.0,2572.0,8050.0,316.0,164.0,152.0,68046.0,39364.0,28682.0,2090.0,1032.0,1058.0,4836.0,1166.0,3670.0,77854.0,74380.0,,60.0,0.0,0.348889,16.6866,0.781,0.737234,5.294,19,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-6.55651e-06,44965872.0,A,rs145639166,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001294.3', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.185+3797A>T', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282176.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.-122+3797A>T', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282175.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.143+3797A>T', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.44965872A>G,17.123087,19,True,CA14644208,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.978, 'alspac': 0.955, 'dbgap_popfreq': 0.962, 'estonian': 0.968, 'genome_dk': 0.925, 'gonl': 0.958, 'northernsweden': 0.965, 'page_study': 0.983, 'qatari': 0.963, 'sgdp_prj': 0.5, 'siberian': 0.5, 'topmed': 0.968, 'twinsuk': 0.955, 'vietnamese': 0.991}}, {'allele': 'G', 'freq': {'1000g': 0.022, 'alspac': 0.045, 'dbgap_popfreq': 0.038, 'estonian': 0.032, 'genome_dk': 0.075, 'gonl': 0.042, 'northernsweden': 0.035, 'page_study': 0.017, 'qatari': 0.037, 'sgdp_prj': 0.5, 'siberian': 0.5, 'topmed': 0.032, 'twinsuk': 0.045}}, {'allele': 'T', 'freq': {'vietnamese': 0.009}}]",G,19,155.0,1209.0,False,CLPTM1 regulator of GABA type A receptor forward trafficking,"[{'hgvs': 'NM_001282175.2:c.143+3797=', 'protein_product': {'refseq': 'NP_001269104.1'}, 'refseq': 'NM_001282175.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001282176.2:c.-122+3797=', 'protein_product': {'refseq': 'NP_001269105.1'}, 'refseq': 'NM_001282176.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_001294.4:c.185+3797=', 'protein_product': {'refseq': 'NP_001285.1'}, 'refseq': 'NM_001294.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,CLPTM1,44965872.0,44965872.0,A,rs145639166,snv,44965872.0,44965872.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,44965872,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,4997.0,336.0,189.0,147.0,24.0,14.0,10.0,492.0,210.0,282.0,348.0,178.0,170.0,2.0,0.0,2.0,195.0,49.0,146.0,21.0,9.0,12.0,3253.0,1857.0,1396.0,86.0,33.0,53.0,240.0,56.0,184.0,2595.0,2402.0,0.0328275,0.00810498,0.00853273,0.00761421,0.0263158,0.0297872,0.0226244,0.0321905,0.0309369,0.0331921,0.10023,0.0952891,0.105985,0.00038506,0.0,0.000685401,0.0183581,0.0190513,0.0181366,0.0664557,0.054878,0.0789474,0.0478087,0.0471775,0.048675,0.0411483,0.0319767,0.0500945,0.0496689,0.04811,0.0501636,0.033335,0.0322962,G,G,152220.0,41456.0,22150.0,19306.0,912.0,470.0,442.0,15284.0,6788.0,8496.0,3472.0,1868.0,1604.0,5194.0,2276.0,2918.0,10622.0,2572.0,8050.0,316.0,164.0,152.0,68042.0,39362.0,28680.0,2090.0,1032.0,1058.0,4832.0,1164.0,3668.0,77846.0,74374.0,3.37515e-15,59.9743,-0.013,1.0,13.2365,0.334,0.691125,6.7685,19,114.0,2.0,1.0,1.0,0.0,0.0,0.0,9.0,3.0,6.0,18.0,5.0,13.0,0.0,0.0,0.0,2.0,1.0,1.0,1.0,0.0,1.0,73.0,38.0,35.0,2.0,0.0,2.0,7.0,1.0,6.0,49.0,65.0,0.0135177,44965872.0,A,rs145639166,snp,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001294.3', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.185+3797A>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282176.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.-122+3797A>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_001282175.1', 'feature_type': 'transcript', 'gene_id': 'CLPTM1', 'genename': 'CLPTM1', 'hgvs_c': 'c.143+3797A>G', 'putative_impact': 'MODIFIER', 'rank': '2', 'total': '13', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.45020325G>A,17.123383,19,True,CA14690479,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.64, 'alspac': 0.764, 'dbgap_popfreq': 0.813, 'estonian': 0.719, 'genome_dk': 0.7, 'gnomad': 0.713, 'gonl': 0.776, 'hapmap': 0.644, 'korea1k': 0.585, 'korean': 0.589, 'northernsweden': 0.752, 'qatari': 0.713, 'sgdp_prj': 0.379, 'siberian': 0.417, 'tommo': 0.622, 'topmed': 0.708, 'twinsuk': 0.761}}, {'allele': 'A', 'freq': {'1000g': 0.36, 'alspac': 0.236, 'dbgap_popfreq': 0.187, 'estonian': 0.281, 'genome_dk': 0.3, 'gnomad': 0.287, 'gonl': 0.224, 'hapmap': 0.356, 'korea1k': 0.415, 'korean': 0.411, 'northernsweden': 0.248, 'qatari': 0.287, 'sgdp_prj': 0.621, 'siberian': 0.583, 'tommo': 0.378, 'topmed': 0.292, 'twinsuk': 0.239}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",A,19,155.0,5971.0,False,"RELB proto-oncogene, NF-kB subunit","[{'hgvs': 'NM_006509.4:c.505-1728=', 'protein_product': {'refseq': 'NP_006500.2'}, 'refseq': 'NM_006509.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259127.3:c.496-1728=', 'protein_product': {'refseq': 'XP_005259184.1'}, 'refseq': 'XM_005259127.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259128.2:c.505-1728=', 'protein_product': {'refseq': 'XP_005259185.1'}, 'refseq': 'XM_005259128.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,RELB,45020325.0,45020325.0,G,rs4803791,snv,45020325.0,45020325.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_006509.3,transcript,RELB,RELB,c.499-1728G>A,,,,MODIFIER,3,10,protein_coding,A,45020325,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,43582.0,14832.0,7948.0,6884.0,88.0,44.0,44.0,4485.0,2018.0,2467.0,918.0,494.0,424.0,2136.0,904.0,1232.0,3102.0,760.0,2342.0,76.0,37.0,39.0,15822.0,9162.0,6660.0,563.0,282.0,281.0,1560.0,410.0,1150.0,22059.0,21523.0,0.289428,0.362729,0.363553,0.361783,0.0967033,0.0940171,0.0995475,0.29896,0.302005,0.296514,0.264859,0.265021,0.264669,0.419811,0.404293,0.431978,0.302575,0.302307,0.302662,0.245161,0.23125,0.26,0.233383,0.233439,0.233308,0.270934,0.274854,0.26711,0.325678,0.354059,0.31663,0.285672,0.293381,A,A,150580.0,40890.0,21862.0,19028.0,910.0,468.0,442.0,15002.0,6682.0,8320.0,3466.0,1864.0,1602.0,5088.0,2236.0,2852.0,10252.0,2514.0,7738.0,310.0,160.0,150.0,67794.0,39248.0,28546.0,2078.0,1026.0,1052.0,4790.0,1158.0,3632.0,77218.0,73362.0,0.0,59.945,0.0,1.0,17.1369,0.246,0.679216,7.5904,19,6743.0,2705.0,1475.0,1230.0,8.0,4.0,4.0,694.0,318.0,376.0,128.0,68.0,60.0,440.0,176.0,264.0,462.0,117.0,345.0,11.0,6.0,5.0,1946.0,1130.0,816.0,77.0,43.0,34.0,272.0,80.0,192.0,3417.0,3326.0,0.0298975,45020325.0,G,rs4803791,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45020325G>C,17.12307,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.64, 'alspac': 0.764, 'dbgap_popfreq': 0.813, 'estonian': 0.719, 'genome_dk': 0.7, 'gnomad': 0.713, 'gonl': 0.776, 'hapmap': 0.644, 'korea1k': 0.585, 'korean': 0.589, 'northernsweden': 0.752, 'qatari': 0.713, 'sgdp_prj': 0.379, 'siberian': 0.417, 'tommo': 0.622, 'topmed': 0.708, 'twinsuk': 0.761}}, {'allele': 'A', 'freq': {'1000g': 0.36, 'alspac': 0.236, 'dbgap_popfreq': 0.187, 'estonian': 0.281, 'genome_dk': 0.3, 'gnomad': 0.287, 'gonl': 0.224, 'hapmap': 0.356, 'korea1k': 0.415, 'korean': 0.411, 'northernsweden': 0.248, 'qatari': 0.287, 'sgdp_prj': 0.621, 'siberian': 0.583, 'tommo': 0.378, 'topmed': 0.292, 'twinsuk': 0.239}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,5971.0,False,"RELB proto-oncogene, NF-kB subunit","[{'hgvs': 'NM_006509.4:c.505-1728=', 'protein_product': {'refseq': 'NP_006500.2'}, 'refseq': 'NM_006509.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259127.3:c.496-1728=', 'protein_product': {'refseq': 'XP_005259184.1'}, 'refseq': 'XM_005259127.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259128.2:c.505-1728=', 'protein_product': {'refseq': 'XP_005259185.1'}, 'refseq': 'XM_005259128.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,RELB,45020325.0,45020325.0,G,rs4803791,snv,45020325.0,45020325.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_006509.3,transcript,RELB,RELB,c.499-1728G>C,,,,MODIFIER,3,10,protein_coding,C,45020325,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45021780A>G,17.123537,19,True,CA14722436,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.993, 'alspac': 0.987, 'dbgap_popfreq': 0.991, 'estonian': 0.992, 'genome_dk': 0.975, 'gnomad': 0.992, 'gonl': 0.982, 'northernsweden': 0.98, 'qatari': 0.991, 'sgdp_prj': 0.444, 'tommo': 1.0, 'topmed': 0.992, 'twinsuk': 0.985}}, {'allele': 'G', 'freq': {'1000g': 0.007, 'alspac': 0.013, 'dbgap_popfreq': 0.009, 'estonian': 0.008, 'genome_dk': 0.025, 'gnomad': 0.008, 'gonl': 0.018, 'northernsweden': 0.02, 'qatari': 0.009, 'sgdp_prj': 0.556, 'tommo': 0.0, 'topmed': 0.008, 'twinsuk': 0.015}}]",G,19,155.0,5971.0,False,"RELB proto-oncogene, NF-kB subunit","[{'hgvs': 'NM_006509.4:c.505-273=', 'protein_product': {'refseq': 'NP_006500.2'}, 'refseq': 'NM_006509.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259127.3:c.496-273=', 'protein_product': {'refseq': 'XP_005259184.1'}, 'refseq': 'XM_005259127.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259128.2:c.505-273=', 'protein_product': {'refseq': 'XP_005259185.1'}, 'refseq': 'XM_005259128.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,RELB,45021780.0,45021780.0,A,rs142380271,snv,45021780.0,45021780.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_006509.3,transcript,RELB,RELB,c.499-273A>G,,,,MODIFIER,3,10,protein_coding,G,45021780,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,1350.0,123.0,62.0,61.0,9.0,5.0,4.0,116.0,48.0,68.0,29.0,12.0,17.0,1.0,1.0,0.0,104.0,29.0,75.0,2.0,0.0,2.0,853.0,478.0,375.0,15.0,7.0,8.0,98.0,27.0,71.0,669.0,681.0,0.00888146,0.00296987,0.00280087,0.0031639,0.00986842,0.0106383,0.00904977,0.00761455,0.0070922,0.00803213,0.00835253,0.00642398,0.0105985,0.000194326,0.000440917,0.0,0.00981873,0.0112928,0.00934696,0.00632911,0.0,0.0131579,0.012543,0.012153,0.013078,0.0071908,0.00682261,0.00754717,0.0203235,0.0231561,0.0194201,0.00860273,0.00917345,G,G,152002.0,41416.0,22136.0,19280.0,912.0,470.0,442.0,15234.0,6768.0,8466.0,3472.0,1868.0,1604.0,5146.0,2268.0,2878.0,10592.0,2568.0,8024.0,316.0,164.0,152.0,68006.0,39332.0,28674.0,2086.0,1026.0,1060.0,4822.0,1166.0,3656.0,77766.0,74236.0,1.44649e-15,59.9279,-0.032,1.0,13.6471,0.31,0.727286,6.369,19,12.0,1.0,1.0,0.0,1.0,0.0,1.0,1.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,1.0,0.0,1.0,0.0,1.0,5.0,2.0,3.0,0.0,0.0,0.0,2.0,2.0,0.0,7.0,5.0,0.00897014,45021780.0,A,rs142380271,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45027093C>T,17.12375,19,True,CA14662618,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.774, 'dbgap_popfreq': 0.786, 'estonian': 0.618, 'genome_dk': 0.4, 'gonl': 0.56, 'korean': 0.762, 'northernsweden': 0.543, 'qatari': 0.769, 'sgdp_prj': 0.42, 'siberian': 0.409, 'tommo': 0.804, 'topmed': 0.703, 'vietnamese': 0.802}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0, 'korean': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.226, 'dbgap_popfreq': 0.214, 'estonian': 0.382, 'genome_dk': 0.6, 'gonl': 0.44, 'korean': 0.238, 'northernsweden': 0.457, 'qatari': 0.231, 'sgdp_prj': 0.58, 'siberian': 0.591, 'tommo': 0.196, 'topmed': 0.297, 'vietnamese': 0.198}}]",T,19,155.0,5971.0,False,"RELB proto-oncogene, NF-kB subunit","[{'hgvs': 'NM_006509.4:c.886+1356=', 'protein_product': {'refseq': 'NP_006500.2'}, 'refseq': 'NM_006509.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259127.3:c.877+1356=', 'protein_product': {'refseq': 'XP_005259184.1'}, 'refseq': 'XM_005259127.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_005259128.2:c.886+1356=', 'protein_product': {'refseq': 'XP_005259185.1'}, 'refseq': 'XM_005259128.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,RELB,45027093.0,45027093.0,C,rs34583389,snv,45027093.0,45027093.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_006509.3,transcript,RELB,RELB,c.880+1356C>T,,,,MODIFIER,6,10,protein_coding,T,45027093,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,46444.0,3530.0,1888.0,1642.0,453.0,231.0,222.0,5165.0,2319.0,2846.0,1291.0,704.0,587.0,1247.0,558.0,689.0,4022.0,938.0,3084.0,116.0,67.0,49.0,28648.0,16545.0,12103.0,716.0,345.0,371.0,1256.0,285.0,971.0,23880.0,22564.0,0.306464,0.0854349,0.0855072,0.0853519,0.498899,0.49359,0.504545,0.340744,0.343759,0.338326,0.372906,0.378088,0.366875,0.242324,0.247121,0.238573,0.382975,0.366406,0.388315,0.369427,0.408537,0.326667,0.422188,0.421293,0.423419,0.344231,0.334302,0.354008,0.261449,0.244845,0.266758,0.307708,0.305158,T,T,151548.0,41318.0,22080.0,19238.0,908.0,468.0,440.0,15158.0,6746.0,8412.0,3462.0,1862.0,1600.0,5146.0,2258.0,2888.0,10502.0,2560.0,7942.0,314.0,164.0,150.0,67856.0,39272.0,28584.0,2080.0,1032.0,1048.0,4804.0,1164.0,3640.0,77606.0,73942.0,0.531596,59.7785,-0.008,1.0,17.5045,0.307,0.692136,3.7573,19,8745.0,152.0,83.0,69.0,118.0,56.0,62.0,904.0,413.0,491.0,259.0,145.0,114.0,163.0,76.0,87.0,778.0,184.0,594.0,20.0,14.0,6.0,6030.0,3495.0,2535.0,142.0,61.0,81.0,179.0,32.0,147.0,4559.0,4186.0,0.101488,45027093.0,C,rs34583389,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.45125846A>C,17.123438,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.987, 'alspac': 0.979, 'dbgap_popfreq': 0.989, 'estonian': 0.97, 'gnomad': 0.988, 'gonl': 0.989, 'northernsweden': 0.982, 'qatari': 0.986, 'sgdp_prj': 0.5, 'topmed': 0.989, 'twinsuk': 0.982, 'vietnamese': 0.995}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.013, 'alspac': 0.021, 'dbgap_popfreq': 0.011, 'estonian': 0.03, 'gnomad': 0.012, 'gonl': 0.011, 'northernsweden': 0.018, 'qatari': 0.014, 'sgdp_prj': 0.5, 'topmed': 0.011, 'twinsuk': 0.018, 'vietnamese': 0.005}}]",C,19,155.0,284352.0,False,protein phosphatase 1 regulatory subunit 37,"[{'hgvs': 'NM_019121.2:c.203-12668=', 'protein_product': {'refseq': 'NP_061994.1'}, 'refseq': 'NM_019121.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_006723159.3:c.203-12668=', 'protein_product': {'refseq': 'XP_006723222.1'}, 'refseq': 'XM_006723159.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001753668.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PPP1R37,45125846.0,45125846.0,A,rs145903417,snv,45125846.0,45125846.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_019121.1,transcript,PPP1R37,PPP1R37,c.203-12668A>C,,,,MODIFIER,1,12,protein_coding,C,45125846,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45125846A>G,17.123325,19,True,CA308922180,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.987, 'alspac': 0.979, 'dbgap_popfreq': 0.989, 'estonian': 0.97, 'gnomad': 0.988, 'gonl': 0.989, 'northernsweden': 0.982, 'qatari': 0.986, 'sgdp_prj': 0.5, 'topmed': 0.989, 'twinsuk': 0.982, 'vietnamese': 0.995}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.013, 'alspac': 0.021, 'dbgap_popfreq': 0.011, 'estonian': 0.03, 'gnomad': 0.012, 'gonl': 0.011, 'northernsweden': 0.018, 'qatari': 0.014, 'sgdp_prj': 0.5, 'topmed': 0.011, 'twinsuk': 0.018, 'vietnamese': 0.005}}]",G,19,155.0,284352.0,False,protein phosphatase 1 regulatory subunit 37,"[{'hgvs': 'NM_019121.2:c.203-12668=', 'protein_product': {'refseq': 'NP_061994.1'}, 'refseq': 'NM_019121.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_006723159.3:c.203-12668=', 'protein_product': {'refseq': 'XP_006723222.1'}, 'refseq': 'XM_006723159.3', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'refseq': 'XR_001753668.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,PPP1R37,45125846.0,45125846.0,A,rs145903417,snv,45125846.0,45125846.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_019121.1,transcript,PPP1R37,PPP1R37,c.203-12668A>G,,,,MODIFIER,1,12,protein_coding,G,45125846,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,2020.0,121.0,65.0,56.0,13.0,6.0,7.0,125.0,51.0,74.0,32.0,16.0,16.0,3.0,1.0,2.0,227.0,59.0,168.0,7.0,4.0,3.0,1236.0,709.0,527.0,27.0,11.0,16.0,229.0,49.0,180.0,971.0,1049.0,0.0132713,0.00291862,0.00293321,0.00290186,0.0142544,0.012766,0.0158371,0.00818277,0.00751769,0.00871408,0.0092219,0.00857449,0.00997506,0.000576923,0.000438596,0.000684932,0.0213748,0.0229572,0.0208696,0.0221519,0.0243902,0.0197368,0.0181669,0.0180123,0.018379,0.0129063,0.0106589,0.0150943,0.0474316,0.042024,0.0491535,0.0124721,0.0141082,G,G,152208.0,41458.0,22160.0,19298.0,912.0,470.0,442.0,15276.0,6784.0,8492.0,3470.0,1866.0,1604.0,5200.0,2280.0,2920.0,10620.0,2570.0,8050.0,316.0,164.0,152.0,68036.0,39362.0,28674.0,2092.0,1032.0,1060.0,4828.0,1166.0,3662.0,77854.0,74354.0,0.0,59.9976,0.022,1.0,13.0493,0.376,0.685897,21.551,19,27.0,1.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,2.0,1.0,1.0,0.0,0.0,0.0,16.0,9.0,7.0,0.0,0.0,0.0,8.0,3.0,5.0,14.0,13.0,0.01361,45125846.0,A,rs145903417,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.45203217G>A,17.123503,19,True,CA308961444,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.998, 'alspac': 0.991, 'dbgap_popfreq': 0.995, 'estonian': 0.999, 'genome_dk': 0.95, 'gnomad': 0.995, 'gonl': 0.993, 'northernsweden': 0.997, 'topmed': 0.995, 'twinsuk': 0.993}}, {'allele': 'A', 'freq': {'1000g': 0.002, 'alspac': 0.009, 'dbgap_popfreq': 0.005, 'estonian': 0.001, 'genome_dk': 0.05, 'gnomad': 0.005, 'gonl': 0.007, 'northernsweden': 0.003, 'topmed': 0.005, 'twinsuk': 0.007}}]",A,19,155.0,,,,,,,45203217.0,45203217.0,G,rs185181700,snv,45203217.0,45203217.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BLOC1S3-EXOC3L2,intergenic_region,BLOC1S3-EXOC3L2,BLOC1S3-EXOC3L2,n.45203217G>A,,,,MODIFIER,,,,A,45203217,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,697.0,67.0,45.0,22.0,0.0,0.0,0.0,90.0,32.0,58.0,0.0,0.0,0.0,0.0,0.0,0.0,12.0,4.0,8.0,0.0,0.0,0.0,517.0,286.0,231.0,11.0,6.0,5.0,0.0,0.0,0.0,373.0,324.0,0.0045836,0.00161804,0.00203381,0.00114096,0.0,0.0,0.0,0.00591327,0.00473233,0.00685741,0.0,0.0,0.0,0.0,0.0,0.0,0.00113229,0.00155521,0.000996761,0.0,0.0,0.0,0.00759981,0.00726626,0.00805776,0.00526316,0.00582524,0.00471698,0.0,0.0,0.0,0.00479471,0.00436246,A,A,152064.0,41408.0,22126.0,19282.0,912.0,470.0,442.0,15220.0,6762.0,8458.0,3470.0,1868.0,1602.0,5188.0,2276.0,2912.0,10598.0,2572.0,8026.0,316.0,164.0,152.0,68028.0,39360.0,28668.0,2090.0,1030.0,1060.0,4834.0,1166.0,3668.0,77794.0,74270.0,1.92865e-15,59.9889,-0.048,1.0,13.7238,-0.092,0.673656,5.391,19,7.0,0.0,0.0,0.0,0.0,0.0,0.0,2.0,0.0,2.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,5.0,2.0,3.0,0.0,0.0,0.0,0.0,0.0,0.0,2.0,5.0,0.0155444,45203217.0,G,rs185181700,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45203694A>G,17.123941,19,True,CA14690515,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.448, 'alspac': 0.701, 'dbgap_popfreq': 0.608, 'estonian': 0.689, 'genome_dk': 0.6, 'gnomad': 0.533, 'gonl': 0.687, 'korea1k': 0.481, 'korean': 0.488, 'northernsweden': 0.603, 'qatari': 0.593, 'sgdp_prj': 0.257, 'siberian': 0.386, 'tommo': 0.448, 'topmed': 0.518, 'twinsuk': 0.712, 'vietnamese': 0.514}}, {'allele': 'G', 'freq': {'1000g': 0.552, 'alspac': 0.299, 'dbgap_popfreq': 0.392, 'estonian': 0.311, 'genome_dk': 0.4, 'gnomad': 0.467, 'gonl': 0.313, 'korea1k': 0.519, 'korean': 0.512, 'northernsweden': 0.397, 'qatari': 0.407, 'sgdp_prj': 0.743, 'siberian': 0.614, 'tommo': 0.552, 'topmed': 0.482, 'twinsuk': 0.288, 'vietnamese': 0.486}}]",G,19,155.0,,,,,,,45203694.0,45203694.0,A,rs620807,snv,45203694.0,45203694.0,http://bit.ly/2suyRKt,,,,,intergenic_region,BLOC1S3-EXOC3L2,intergenic_region,BLOC1S3-EXOC3L2,BLOC1S3-EXOC3L2,n.45203694A>G,,,,MODIFIER,,,,G,45203694,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,70219.0,32294.0,17328.0,14966.0,362.0,182.0,180.0,6626.0,2957.0,3669.0,757.0,416.0,341.0,2667.0,1192.0,1475.0,4010.0,937.0,3073.0,88.0,44.0,44.0,20397.0,11797.0,8600.0,849.0,424.0,425.0,2169.0,522.0,1647.0,35799.0,34420.0,0.462484,0.780954,0.784143,0.777293,0.399558,0.392241,0.40724,0.435692,0.437815,0.433996,0.21803,0.222698,0.212594,0.51867,0.526037,0.512865,0.379376,0.364025,0.384317,0.280255,0.268293,0.293333,0.300141,0.300086,0.300216,0.408566,0.410853,0.40631,0.449068,0.448454,0.449264,0.460757,0.464294,G,G,151830.0,41352.0,22098.0,19254.0,906.0,464.0,442.0,15208.0,6754.0,8454.0,3472.0,1868.0,1604.0,5142.0,2266.0,2876.0,10570.0,2574.0,7996.0,314.0,164.0,150.0,67958.0,39312.0,28646.0,2078.0,1032.0,1046.0,4830.0,1164.0,3666.0,77696.0,74134.0,0.0,59.9965,-0.018,1.0,19.9506,0.288,0.688884,22.4307,19,19550.0,12661.0,6808.0,5853.0,73.0,38.0,35.0,1513.0,662.0,851.0,82.0,47.0,35.0,681.0,302.0,379.0,770.0,179.0,591.0,16.0,9.0,7.0,3063.0,1801.0,1262.0,197.0,98.0,99.0,494.0,118.0,376.0,10062.0,9488.0,0.175911,45203694.0,A,rs620807,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-26T19:13Z,rs61129184,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45208340C>G,17.123737,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.66, 'alspac': 0.836, 'dbgap_popfreq': 0.767, 'estonian': 0.778, 'genome_dk': 0.775, 'gnomad': 0.737, 'gonl': 0.83, 'hapmap': 0.664, 'korea1k': 0.598, 'korean': 0.605, 'northernsweden': 0.745, 'qatari': 0.704, 'sgdp_prj': 0.315, 'siberian': 0.455, 'tommo': 0.57, 'topmed': 0.726, 'twinsuk': 0.848, 'vietnamese': 0.617}}, {'allele': 'G', 'freq': {'korean': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.34, 'alspac': 0.164, 'dbgap_popfreq': 0.233, 'estonian': 0.222, 'genome_dk': 0.225, 'gnomad': 0.263, 'gonl': 0.17, 'hapmap': 0.336, 'korea1k': 0.402, 'korean': 0.395, 'northernsweden': 0.255, 'qatari': 0.296, 'sgdp_prj': 0.685, 'siberian': 0.545, 'tommo': 0.43, 'topmed': 0.274, 'twinsuk': 0.152, 'vietnamese': 0.383}}]",G,19,155.0,,,,,,,45208340.0,45208340.0,C,rs10415983,snv,45208340.0,45208340.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,G,45208340,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'distance_to_feature': '4281', 'effect': 'downstream_gene_variant', 'feature_id': 'NM_138568.3', 'feature_type': 'transcript', 'gene_id': 'EXOC3L2', 'genename': 'EXOC3L2', 'hgvs_c': 'c.*4729G>C', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'BLOC1S3-EXOC3L2', 'feature_type': 'intergenic_region', 'gene_id': 'BLOC1S3-EXOC3L2', 'genename': 'BLOC1S3-EXOC3L2', 'hgvs_c': 'n.45208340C>G', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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+chr19:g.45212934G>C,17.123943,19,True,CA14644333,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.802, 'alspac': 0.628, 'dbgap_popfreq': 0.672, 'estonian': 0.611, 'genome_dk': 0.675, 'gnomad': 0.726, 'gonl': 0.645, 'korea1k': 0.897, 'korean': 0.887, 'mgp': 0.601, 'northernsweden': 0.662, 'qatari': 0.699, 'sgdp_prj': 0.359, 'siberian': 0.458, 'tommo': 0.867, 'topmed': 0.739, 'twinsuk': 0.614}}, {'allele': 'C', 'freq': {'1000g': 0.198, 'alspac': 0.372, 'dbgap_popfreq': 0.328, 'estonian': 0.389, 'genome_dk': 0.325, 'gnomad': 0.274, 'gonl': 0.355, 'korea1k': 0.103, 'korean': 0.113, 'mgp': 0.399, 'northernsweden': 0.338, 'qatari': 0.301, 'sgdp_prj': 0.641, 'siberian': 0.542, 'tommo': 0.133, 'topmed': 0.261, 'twinsuk': 0.386}}]",C,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.*135=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001624', 'name': '3_prime_UTR_variant'}]}]",-,EXOC3L2,45212934.0,45212934.0,G,rs11667509,snv,45212934.0,45212934.0,http://bit.ly/2suyRKt,,,,,3_prime_UTR_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.*135C>G,,,,MODIFIER,10,10,protein_coding,C,45212934,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,42038.0,2932.0,1581.0,1351.0,230.0,114.0,116.0,4072.0,1793.0,2279.0,1734.0,955.0,779.0,404.0,172.0,232.0,3881.0,960.0,2921.0,156.0,83.0,73.0,26275.0,15163.0,11112.0,718.0,319.0,399.0,1636.0,382.0,1254.0,21522.0,20516.0,0.277446,0.070924,0.0715449,0.070211,0.253863,0.244635,0.263636,0.268071,0.266103,0.26964,0.501446,0.512889,0.488095,0.0784466,0.0758377,0.0804997,0.370113,0.374707,0.368627,0.496815,0.512346,0.480263,0.387708,0.38687,0.388858,0.34453,0.309709,0.378558,0.339419,0.328179,0.342998,0.277546,0.277341,C,C,151518.0,41340.0,22098.0,19242.0,906.0,466.0,440.0,15190.0,6738.0,8452.0,3458.0,1862.0,1596.0,5150.0,2268.0,2882.0,10486.0,2562.0,7924.0,314.0,162.0,152.0,67770.0,39194.0,28576.0,2084.0,1030.0,1054.0,4820.0,1164.0,3656.0,77544.0,73974.0,1.44649e-15,59.979,-0.035,1.0,25.1025,0.319,0.696385,9.128,19,7448.0,118.0,72.0,46.0,22.0,9.0,13.0,565.0,257.0,308.0,436.0,243.0,193.0,18.0,8.0,10.0,730.0,184.0,546.0,35.0,15.0,20.0,5107.0,2964.0,2143.0,129.0,51.0,78.0,288.0,68.0,220.0,3871.0,3577.0,0.110089,45212934.0,G,rs11667509,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,135
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+chr19:g.45216532C>G,17.123383,19,True,CA308929459,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.801, 'alspac': 0.891, 'dbgap_popfreq': 0.951, 'estonian': 0.9, 'genome_dk': 0.925, 'gonl': 0.899, 'korea1k': 0.881, 'korean': 0.876, 'northernsweden': 0.882, 'qatari': 0.843, 'sgdp_prj': 0.447, 'siberian': 0.5, 'tommo': 0.846, 'topmed': 0.81, 'twinsuk': 0.89, 'vietnamese': 0.915}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.199, 'alspac': 0.109, 'dbgap_popfreq': 0.049, 'estonian': 0.1, 'genome_dk': 0.075, 'gonl': 0.101, 'korea1k': 0.119, 'korean': 0.124, 'northernsweden': 0.118, 'qatari': 0.157, 'sgdp_prj': 0.553, 'siberian': 0.5, 'tommo': 0.154, 'topmed': 0.19, 'twinsuk': 0.11, 'vietnamese': 0.085}}]",G,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1999-338=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45216532.0,45216532.0,C,rs10415392,snv,45216532.0,45216532.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.820-338G>C,,,,MODIFIER,8,9,protein_coding,G,45216532,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,2.0,2.0,1.0,1.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,1.0,1.31653e-05,4.84144e-05,4.53391e-05,5.19373e-05,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.28684e-05,1.34764e-05,G,G,151914.0,41310.0,22056.0,19254.0,912.0,470.0,442.0,15244.0,6776.0,8468.0,3466.0,1864.0,1602.0,5182.0,2278.0,2904.0,10586.0,2570.0,8016.0,316.0,164.0,152.0,67986.0,39334.0,28652.0,2090.0,1032.0,1058.0,4822.0,1166.0,3656.0,77710.0,74204.0,,59.858,1.294,0.677809,20.5862,2.616,0.715178,-1.2161,19,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,-1.3113e-05,45216532.0,C,rs10415392,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-25T10:04Z,rs59259486,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45220448C>T,16.612644,19,True,CA15947183,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.706, 'alspac': 0.866, 'dbgap_popfreq': 0.83, 'estonian': 0.856, 'genome_dk': 0.825, 'gnomad': 0.78, 'gonl': 0.87, 'korea1k': 0.609, 'korean': 0.59, 'northernsweden': 0.813, 'qatari': 0.778, 'sgdp_prj': 0.407, 'siberian': 0.441, 'tommo': 0.558, 'topmed': 0.773, 'twinsuk': 0.878}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.294, 'alspac': 0.134, 'dbgap_popfreq': 0.17, 'estonian': 0.144, 'genome_dk': 0.175, 'gnomad': 0.22, 'gonl': 0.13, 'korea1k': 0.391, 'korean': 0.41, 'northernsweden': 0.187, 'qatari': 0.222, 'sgdp_prj': 0.593, 'siberian': 0.559, 'tommo': 0.442, 'topmed': 0.227, 'twinsuk': 0.122}}]",T,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1720-2129=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45220448.0,45220448.0,C,rs12461144,snv,45220448.0,45220448.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.541-2129G>A,,,,MODIFIER,6,9,protein_coding,T,45220448,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,33351.0,15231.0,8119.0,7112.0,260.0,132.0,128.0,2907.0,1388.0,1519.0,308.0,158.0,150.0,2078.0,901.0,1177.0,2245.0,506.0,1739.0,27.0,13.0,14.0,8921.0,5209.0,3712.0,399.0,197.0,202.0,975.0,225.0,750.0,16848.0,16503.0,0.219802,0.369272,0.368209,0.370494,0.285714,0.282051,0.289593,0.1912,0.20563,0.179678,0.0888632,0.0847639,0.093633,0.401779,0.397266,0.405303,0.213444,0.197348,0.218632,0.085443,0.0792683,0.0921053,0.131195,0.132437,0.129491,0.191643,0.191634,0.191651,0.202282,0.192967,0.205255,0.216962,0.222779,T,T,151732.0,41246.0,22050.0,19196.0,910.0,468.0,442.0,15204.0,6750.0,8454.0,3466.0,1864.0,1602.0,5172.0,2268.0,2904.0,10518.0,2564.0,7954.0,316.0,164.0,152.0,67998.0,39332.0,28666.0,2082.0,1028.0,1054.0,4820.0,1166.0,3654.0,77654.0,74078.0,1.44649e-15,59.9285,-0.017,1.0,16.7208,0.379,0.695626,7.0101,19,4594.0,2835.0,1537.0,1298.0,44.0,18.0,26.0,295.0,144.0,151.0,16.0,6.0,10.0,413.0,180.0,233.0,249.0,60.0,189.0,1.0,0.0,1.0,587.0,348.0,239.0,39.0,21.0,18.0,115.0,27.0,88.0,2341.0,2253.0,0.0718192,45220448.0,C,rs12461144,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45220448C>G,16.612644,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.706, 'alspac': 0.866, 'dbgap_popfreq': 0.83, 'estonian': 0.856, 'genome_dk': 0.825, 'gnomad': 0.78, 'gonl': 0.87, 'korea1k': 0.609, 'korean': 0.59, 'northernsweden': 0.813, 'qatari': 0.778, 'sgdp_prj': 0.407, 'siberian': 0.441, 'tommo': 0.558, 'topmed': 0.773, 'twinsuk': 0.878}}, {'allele': 'G', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'T', 'freq': {'1000g': 0.294, 'alspac': 0.134, 'dbgap_popfreq': 0.17, 'estonian': 0.144, 'genome_dk': 0.175, 'gnomad': 0.22, 'gonl': 0.13, 'korea1k': 0.391, 'korean': 0.41, 'northernsweden': 0.187, 'qatari': 0.222, 'sgdp_prj': 0.593, 'siberian': 0.559, 'tommo': 0.442, 'topmed': 0.227, 'twinsuk': 0.122}}]",G,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1720-2129=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45220448.0,45220448.0,C,rs12461144,snv,45220448.0,45220448.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.541-2129G>C,,,,MODIFIER,6,9,protein_coding,G,45220448,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45222481A>G,17.123558,19,True,CA14722453,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.689, 'alspac': 0.911, 'dbgap_popfreq': 0.85, 'estonian': 0.882, 'genome_dk': 0.875, 'gnomad': 0.753, 'gonl': 0.91, 'korea1k': 0.782, 'korean': 0.784, 'northernsweden': 0.883, 'qatari': 0.731, 'sgdp_prj': 0.373, 'siberian': 0.393, 'tommo': 0.85, 'topmed': 0.748, 'twinsuk': 0.916, 'vietnamese': 0.738}}, {'allele': 'G', 'freq': {'1000g': 0.311, 'alspac': 0.089, 'dbgap_popfreq': 0.15, 'estonian': 0.118, 'genome_dk': 0.125, 'gnomad': 0.247, 'gonl': 0.09, 'korea1k': 0.218, 'korean': 0.216, 'northernsweden': 0.117, 'qatari': 0.269, 'sgdp_prj': 0.627, 'siberian': 0.607, 'tommo': 0.15, 'topmed': 0.252, 'twinsuk': 0.084, 'vietnamese': 0.262}}]",G,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1719+2297=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45222481.0,45222481.0,A,rs346758,snv,45222481.0,45222481.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.540+2297T>C,,,,MODIFIER,6,9,protein_coding,G,45222481,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,36513.0,23940.0,12827.0,11113.0,154.0,79.0,75.0,1814.0,857.0,957.0,193.0,100.0,93.0,1270.0,586.0,684.0,1502.0,368.0,1134.0,51.0,25.0,26.0,6173.0,3557.0,2616.0,409.0,195.0,214.0,1007.0,250.0,757.0,18844.0,17669.0,0.240511,0.579493,0.581354,0.577359,0.169231,0.168803,0.169683,0.119185,0.126625,0.113228,0.0555876,0.0535332,0.05798,0.246698,0.259063,0.237006,0.141778,0.143079,0.141361,0.161392,0.152439,0.171053,0.0908676,0.0905135,0.0913535,0.195694,0.188953,0.202268,0.209008,0.214777,0.20717,0.242647,0.238274,G,G,151814.0,41312.0,22064.0,19248.0,910.0,468.0,442.0,15220.0,6768.0,8452.0,3472.0,1868.0,1604.0,5148.0,2262.0,2886.0,10594.0,2572.0,8022.0,316.0,164.0,152.0,67934.0,39298.0,28636.0,2090.0,1032.0,1058.0,4818.0,1164.0,3654.0,77660.0,74154.0,0.0,59.939,-0.016,1.0,17.8174,0.331,0.716103,7.2191,19,7899.0,7031.0,3746.0,3285.0,13.0,5.0,8.0,122.0,64.0,58.0,6.0,3.0,3.0,170.0,84.0,86.0,107.0,31.0,76.0,4.0,1.0,3.0,282.0,162.0,120.0,49.0,24.0,25.0,115.0,34.0,81.0,4154.0,3745.0,0.253811,45222481.0,A,rs346758,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2008-05-23T09:59Z,rs56715955,130.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45223587C>G,17.123728,19,True,CA14722459,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.897, 'alspac': 0.954, 'dbgap_popfreq': 0.964, 'estonian': 0.916, 'genome_dk': 0.9, 'gnomad': 0.91, 'korea1k': 0.885, 'korean': 0.893, 'northernsweden': 0.915, 'qatari': 0.921, 'sgdp_prj': 0.444, 'siberian': 0.385, 'tommo': 0.913, 'topmed': 0.911, 'twinsuk': 0.958, 'vietnamese': 0.934}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.103, 'alspac': 0.046, 'dbgap_popfreq': 0.036, 'estonian': 0.084, 'genome_dk': 0.1, 'gnomad': 0.09, 'korea1k': 0.115, 'korean': 0.107, 'northernsweden': 0.085, 'qatari': 0.079, 'sgdp_prj': 0.556, 'siberian': 0.615, 'tommo': 0.087, 'topmed': 0.089, 'twinsuk': 0.042, 'vietnamese': 0.066}}]",G,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1719+1191=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45223587.0,45223587.0,C,rs112759099,snv,45223587.0,45223587.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.540+1191G>C,,,,MODIFIER,6,9,protein_coding,G,45223587,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,13237.0,6692.0,3578.0,3114.0,138.0,72.0,66.0,763.0,360.0,403.0,80.0,48.0,32.0,496.0,227.0,269.0,1117.0,273.0,844.0,23.0,10.0,13.0,3447.0,2006.0,1441.0,137.0,63.0,74.0,344.0,82.0,262.0,6719.0,6518.0,0.0879862,0.163243,0.163484,0.162968,0.152993,0.154506,0.151376,0.050463,0.0536993,0.047885,0.0230814,0.0257235,0.02,0.103592,0.104512,0.102829,0.106992,0.108162,0.10662,0.0727848,0.0609756,0.0855263,0.0509791,0.0513332,0.0504941,0.0661197,0.0617647,0.0703422,0.0727273,0.0719298,0.0729805,0.0872371,0.0887721,G,G,150444.0,40994.0,21886.0,19108.0,902.0,466.0,436.0,15120.0,6704.0,8416.0,3466.0,1866.0,1600.0,4788.0,2172.0,2616.0,10440.0,2524.0,7916.0,316.0,164.0,152.0,67616.0,39078.0,28538.0,2072.0,1020.0,1052.0,4730.0,1140.0,3590.0,77020.0,73424.0,3.30492,59.9064,-0.022,1.0,19.8889,0.192,0.479801,0.8722,19,783.0,544.0,286.0,258.0,11.0,4.0,7.0,24.0,12.0,12.0,1.0,1.0,0.0,27.0,15.0,12.0,65.0,21.0,44.0,0.0,0.0,0.0,90.0,55.0,35.0,6.0,2.0,4.0,15.0,6.0,9.0,402.0,381.0,0.034475,45223587.0,C,rs112759099,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45223587C>A,17.123438,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'C', 'freq': {'1000g': 0.897, 'alspac': 0.954, 'dbgap_popfreq': 0.964, 'estonian': 0.916, 'genome_dk': 0.9, 'gnomad': 0.91, 'korea1k': 0.885, 'korean': 0.893, 'northernsweden': 0.915, 'qatari': 0.921, 'sgdp_prj': 0.444, 'siberian': 0.385, 'tommo': 0.913, 'topmed': 0.911, 'twinsuk': 0.958, 'vietnamese': 0.934}}, {'allele': 'A', 'freq': {'dbgap_popfreq': 0.0}}, {'allele': 'G', 'freq': {'1000g': 0.103, 'alspac': 0.046, 'dbgap_popfreq': 0.036, 'estonian': 0.084, 'genome_dk': 0.1, 'gnomad': 0.09, 'korea1k': 0.115, 'korean': 0.107, 'northernsweden': 0.085, 'qatari': 0.079, 'sgdp_prj': 0.556, 'siberian': 0.615, 'tommo': 0.087, 'topmed': 0.089, 'twinsuk': 0.042, 'vietnamese': 0.066}}]",A,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1719+1191=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45223587.0,45223587.0,C,rs112759099,snv,45223587.0,45223587.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.540+1191G>T,,,,MODIFIER,6,9,protein_coding,A,45223587,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45231175T>C,17.12324,19,True,CA14703668,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'T', 'freq': {'1000g': 0.577, 'alspac': 0.575, 'dbgap_popfreq': 0.555, 'estonian': 0.516, 'genome_dk': 0.55, 'gnomad': 0.518, 'gonl': 0.611, 'hapmap': 0.567, 'korea1k': 0.888, 'korean': 0.888, 'northernsweden': 0.608, 'qatari': 0.477, 'sgdp_prj': 0.321, 'siberian': 0.346, 'tommo': 0.934, 'topmed': 0.537, 'twinsuk': 0.555, 'vietnamese': 0.792}}, {'allele': 'C', 'freq': {'1000g': 0.423, 'alspac': 0.425, 'dbgap_popfreq': 0.445, 'estonian': 0.484, 'genome_dk': 0.45, 'gnomad': 0.482, 'gonl': 0.389, 'hapmap': 0.433, 'korea1k': 0.112, 'korean': 0.112, 'northernsweden': 0.392, 'qatari': 0.523, 'sgdp_prj': 0.679, 'siberian': 0.654, 'tommo': 0.066, 'topmed': 0.463, 'twinsuk': 0.445, 'vietnamese': 0.208}}]",C,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1269+588=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45231175.0,45231175.0,T,rs346751,snv,45231175.0,45231175.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.90+588A>G,,,,MODIFIER,2,9,protein_coding,C,45231175,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,72054.0,24842.0,13282.0,11560.0,316.0,161.0,155.0,5394.0,2404.0,2990.0,1709.0,906.0,803.0,825.0,384.0,441.0,5557.0,1334.0,4223.0,168.0,92.0,76.0,29909.0,17165.0,12744.0,1004.0,477.0,527.0,2330.0,579.0,1751.0,36784.0,35270.0,0.474395,0.601239,0.60154,0.600894,0.346491,0.342553,0.350679,0.353612,0.354677,0.352761,0.493076,0.486052,0.501248,0.159144,0.168865,0.151546,0.525833,0.518663,0.528139,0.531646,0.560976,0.5,0.440097,0.436591,0.44491,0.480843,0.464008,0.49717,0.483402,0.497423,0.478939,0.47335,0.475491,C,C,151886.0,41318.0,22080.0,19238.0,912.0,470.0,442.0,15254.0,6778.0,8476.0,3466.0,1864.0,1602.0,5184.0,2274.0,2910.0,10568.0,2572.0,7996.0,316.0,164.0,152.0,67960.0,39316.0,28644.0,2088.0,1028.0,1060.0,4820.0,1164.0,3656.0,77710.0,74176.0,1.44649e-15,59.9945,0.0,1.0,19.8109,0.344,0.694241,22.6254,19,17887.0,7513.0,3996.0,3517.0,53.0,23.0,30.0,983.0,444.0,539.0,415.0,219.0,196.0,68.0,31.0,37.0,1457.0,356.0,1101.0,47.0,25.0,22.0,6553.0,3731.0,2822.0,234.0,112.0,122.0,564.0,144.0,420.0,9081.0,8806.0,0.0424874,45231175.0,T,rs346751,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,2000-10-23T16:40Z,rs644177,87.0,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45233960A>C,17.12325,19,True,CA14644339,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'A', 'freq': {'1000g': 0.633, 'alspac': 0.62, 'dbgap_popfreq': 0.628, 'estonian': 0.579, 'genome_dk': 0.65, 'gnomad': 0.59, 'gonl': 0.656, 'hapmap': 0.635, 'korea1k': 0.807, 'korean': 0.789, 'northernsweden': 0.655, 'page_study': 0.626, 'prjeb36033': 0.552, 'prjeb37584': 0.81, 'qatari': 0.625, 'sgdp_prj': 0.349, 'siberian': 0.462, 'tommo': 0.799, 'topmed': 0.605, 'twinsuk': 0.619, 'vietnamese': 0.816}}, {'allele': 'C', 'freq': {'1000g': 0.367, 'alspac': 0.38, 'dbgap_popfreq': 0.372, 'estonian': 0.421, 'genome_dk': 0.35, 'gnomad': 0.41, 'gonl': 0.344, 'hapmap': 0.365, 'korea1k': 0.193, 'korean': 0.211, 'northernsweden': 0.345, 'page_study': 0.374, 'prjeb36033': 0.448, 'prjeb37584': 0.19, 'qatari': 0.375, 'sgdp_prj': 0.651, 'siberian': 0.538, 'tommo': 0.201, 'topmed': 0.395, 'twinsuk': 0.381, 'vietnamese': 0.184}}]",C,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'hgvs': 'NM_001382422.1:c.1157+233=', 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",-,EXOC3L2,45233960.0,45233960.0,A,rs346750,snv,45233960.0,45233960.0,http://bit.ly/2suyRKt,,,,,intron_variant,NM_138568.3,transcript,EXOC3L2,EXOC3L2,c.-23+233T>G,,,,MODIFIER,1,9,protein_coding,C,45233960,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,61422.0,21473.0,11510.0,9963.0,349.0,174.0,175.0,4218.0,1910.0,2308.0,1202.0,629.0,573.0,931.0,433.0,498.0,4735.0,1139.0,3596.0,109.0,57.0,52.0,25515.0,14721.0,10794.0,765.0,385.0,380.0,2125.0,523.0,1602.0,31481.0,29941.0,0.404465,0.519726,0.521712,0.517451,0.384361,0.373391,0.395928,0.276554,0.28196,0.272234,0.346398,0.336724,0.357678,0.179591,0.190246,0.171252,0.447458,0.442502,0.449051,0.344937,0.347561,0.342105,0.375685,0.374618,0.377149,0.366379,0.373786,0.359168,0.440141,0.450086,0.436989,0.405307,0.403583,C,C,151860.0,41316.0,22062.0,19254.0,908.0,466.0,442.0,15252.0,6774.0,8478.0,3470.0,1868.0,1602.0,5184.0,2276.0,2908.0,10582.0,2574.0,8008.0,316.0,164.0,152.0,67916.0,39296.0,28620.0,2088.0,1030.0,1058.0,4828.0,1162.0,3666.0,77672.0,74188.0,4.82164e-16,59.9979,-0.015,1.0,18.6663,0.352,0.687466,22.8844,19,13013.0,5581.0,3025.0,2556.0,70.0,33.0,37.0,610.0,281.0,329.0,205.0,107.0,98.0,76.0,32.0,44.0,1075.0,263.0,812.0,25.0,14.0,11.0,4764.0,2724.0,2040.0,139.0,74.0,65.0,468.0,116.0,352.0,6669.0,6344.0,0.0333258,45233960.0,A,rs346750,snp,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'date': '2009-02-27T12:09Z', 'rsid': 'rs58777940', 'rv': 130}, {'date': '2008-05-26T07:03Z', 'rsid': 'rs60598859', 'rv': 130}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45238836G>A,17.123701,19,True,CA14676937,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.838, 'alspac': 0.736, 'dbgap_popfreq': 0.755, 'estonian': 0.702, 'genome_dk': 0.7, 'gnomad': 0.782, 'korea1k': 0.999, 'korean': 1.0, 'mgp': 0.993, 'northernsweden': 0.82, 'qatari': 0.796, 'sgdp_prj': 0.404, 'siberian': 0.444, 'topmed': 0.801, 'twinsuk': 0.733}}, {'allele': 'A', 'freq': {'1000g': 0.162, 'alspac': 0.264, 'dbgap_popfreq': 0.245, 'estonian': 0.298, 'genome_dk': 0.3, 'gnomad': 0.218, 'korea1k': 0.001, 'korean': 0.0, 'mgp': 0.007, 'northernsweden': 0.18, 'qatari': 0.204, 'sgdp_prj': 0.596, 'siberian': 0.556, 'topmed': 0.199, 'twinsuk': 0.267}}]",A,19,155.0,90332.0,False,exocyst complex component 3 like 2,"[{'codon_aligned_transcript_change': {'deleted_sequence': 'GGC', 'inserted_sequence': 'GGC', 'position': 290, 'seq_id': 'NM_001382422.1'}, 'hgvs': 'NM_001382422.1:c.210=', 'protein': {'variant': {'spdi': {'deleted_sequence': 'G', 'inserted_sequence': 'G', 'position': 69, 'seq_id': 'NP_001369351.1'}}}, 'protein_product': {'refseq': 'NP_001369351.1'}, 'refseq': 'NM_001382422.1', 'so': [{'accession': 'SO:0001580', 'name': 'coding_sequence_variant'}]}]",-,EXOC3L2,45238836.0,45238836.0,G,rs11673093,snv,45238836.0,45238836.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,A,45238836,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2I1cl1I,33023.0,6457.0,3448.0,3009.0,243.0,120.0,123.0,2583.0,1147.0,1436.0,907.0,477.0,430.0,14.0,4.0,10.0,3152.0,764.0,2388.0,73.0,36.0,37.0,17771.0,10228.0,7543.0,427.0,202.0,225.0,1396.0,327.0,1069.0,16753.0,16270.0,0.217168,0.155868,0.15575,0.156004,0.266447,0.255319,0.278281,0.169288,0.169074,0.16946,0.261534,0.255627,0.268414,0.00270062,0.00175901,0.00343643,0.297471,0.29774,0.297385,0.231013,0.219512,0.243421,0.261392,0.260056,0.263226,0.204306,0.195358,0.213068,0.289266,0.281411,0.291758,0.215367,0.219054,A,A,152062.0,41426.0,22138.0,19288.0,912.0,470.0,442.0,15258.0,6784.0,8474.0,3468.0,1866.0,1602.0,5184.0,2274.0,2910.0,10596.0,2566.0,8030.0,316.0,164.0,152.0,67986.0,39330.0,28656.0,2090.0,1034.0,1056.0,4826.0,1162.0,3664.0,77788.0,74274.0,0.0,59.9962,-0.024,1.0,15.8334,0.385,0.686381,22.2325,19,3980.0,523.0,298.0,225.0,40.0,15.0,25.0,230.0,101.0,129.0,121.0,66.0,55.0,1.0,0.0,1.0,485.0,122.0,363.0,15.0,8.0,7.0,2315.0,1340.0,975.0,40.0,20.0,20.0,210.0,55.0,155.0,2025.0,1955.0,0.0306657,45238836.0,G,rs11673093,snp,,"[{'distance_to_feature': '4625', 'effect': 'upstream_gene_variant', 'feature_id': 'NM_138568.3', 'feature_type': 'transcript', 'gene_id': 'EXOC3L2', 'genename': 'EXOC3L2', 'hgvs_c': 'c.-6984C>T', 'putative_impact': 'MODIFIER', 'transcript_biotype': 'protein_coding'}, {'effect': 'intergenic_region', 'feature_id': 'EXOC3L2-MARK4', 'feature_type': 'intergenic_region', 'gene_id': 'EXOC3L2-MARK4', 'genename': 'EXOC3L2-MARK4', 'hgvs_c': 'n.45238836G>A', 'putative_impact': 'MODIFIER'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
+chr19:g.45266491G>C,17.123734,19,True,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,http://bit.ly/2AqoLOc,"[{'allele': 'G', 'freq': {'1000g': 0.731, 'alspac': 0.672, 'dbgap_popfreq': 0.681, 'estonian': 0.694, 'genome_dk': 0.7, 'gnomad': 0.653, 'gonl': 0.651, 'korea1k': 0.919, 'korean': 0.921, 'northernsweden': 0.667, 'qatari': 0.745, 'sgdp_prj': 0.405, 'siberian': 0.441, 'tommo': 0.893, 'topmed': 0.66, 'twinsuk': 0.68, 'vietnamese': 0.926}}, {'allele': 'A', 'freq': {'1000g': 0.269, 'alspac': 0.328, 'dbgap_popfreq': 0.319, 'estonian': 0.306, 'genome_dk': 0.3, 'gnomad': 0.347, 'gonl': 0.349, 'korea1k': 0.081, 'korean': 0.079, 'northernsweden': 0.333, 'qatari': 0.255, 'sgdp_prj': 0.595, 'siberian': 0.559, 'tommo': 0.107, 'topmed': 0.34, 'twinsuk': 0.32, 'vietnamese': 0.074}}, {'allele': 'C', 'freq': {'dbgap_popfreq': 0.0}}]",C,19,155.0,57787.0,False,microtubule affinity regulating kinase 4,"[{'hgvs': 'NM_001199867.2:c.549+210=', 'protein_product': {'refseq': 'NP_001186796.1'}, 'refseq': 'NM_001199867.2', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'NM_031417.4:c.549+210=', 'protein_product': {'refseq': 'NP_113605.2'}, 'refseq': 'NM_031417.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}, {'hgvs': 'XM_006723307.4:c.348+210=', 'protein_product': {'refseq': 'XP_006723370.1'}, 'refseq': 'XM_006723307.4', 'so': [{'accession': 'SO:0001627', 'name': 'intron_variant'}]}]",+,MARK4,45266491.0,45266491.0,G,rs345421,snv,45266491.0,45266491.0,http://bit.ly/2suyRKt,,,,,,,,,,,,,,,,,,C,45266491,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,"[{'effect': 'intron_variant', 'feature_id': 'NM_001199867.1', 'feature_type': 'transcript', 'gene_id': 'MARK4', 'genename': 'MARK4', 'hgvs_c': 'c.549+210G>C', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '16', 'transcript_biotype': 'protein_coding'}, {'effect': 'intron_variant', 'feature_id': 'NM_031417.3', 'feature_type': 'transcript', 'gene_id': 'MARK4', 'genename': 'MARK4', 'hgvs_c': 'c.549+210G>C', 'putative_impact': 'MODIFIER', 'rank': '7', 'total': '17', 'transcript_biotype': 'protein_coding'}]",,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
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