chr	start	reference_bases	alt	call_set_name	CLNHGVS	CLNALLE	CLNSRC	CLNORIGIN	CLNSRCID	CLNSIG	CLNDSDB	CLNDSDBID	CLNDBN	CLNREVSTAT	CLNACC
1	94047008	C	T	NA12878_ERR194147	['NC_000001.11:g.94047009C>T']	[2]	['HGMD\|OMIM_Allelic_Variant\|UniProtKB_(protein)']	[1]	['CM024629\|601691.0035\|P78363#VAR_008428']	['255\|5\|1\|2\|3\|3\|3\|3']	['MedGen:OMIM\|MedGen\|MedGen\|Human_Phenotype_Ontology:MedGen\|MedGen\|MedGen\|MedGen']	['C1855465:248200\|CN221809\|CN169374\|HP:0000608:C0024437\|CN239309\|CN239466\|CN239312']	['MACULAR_DEGENERATION\\\\x2c_AGE-RELATED\\\\x2c_2\\\\x2c_SUSCEPTIBILITY_TO\|Stargardt_disease_1\|not_provided\|not_specified\|Macular_degeneration\|Cone-Rod_Dystrophy\\\\x2c_Recessive\|Retinitis_Pigmentosa\\\\x2c_Recessive\|Stargardt_Disease\\\\x2c_Recessive']	['no_criteria\|no_criteria\|no_assertion\|mult\|single\|single\|single\|single']	['RCV000008374.4\|RCV000008375.4\|RCV000085512.3\|RCV000152706.4\|RCV000294335.1\|RCV000349295.1\|RCV000392936.1\|RCV000399411.1']
1	201361939	A	G	NA12878_ERR194147	['NC_000001.11:g.201361940A>G']	[1]	['.']	[1]	['.']	['255\|0\|0\|0\|0\|0\|0\|0']	['MedGen\|MedGen:OMIM\|MedGen:OMIM\|MedGen:OMIM\|Human_Phenotype_Ontology:MedGen\|Human_Phenotype_Ontology:MedGen:Orphanet\|MedGen\|MedGen:Orphanet:SNOMED_CT']	['CN169374\|C1861864:115195\|C2676271:612422\|C1832243:601494\|HP:0011664:C4021133\|HP:0001639:C0007194:ORPHA217569\|CN239310\|C0340429:ORPHA217635:233878008']	['not_specified\|Familial_hypertrophic_cardiomyopathy_2\|Familial_restrictive_cardiomyopathy_3\|Left_ventricular_noncompaction_6\|Left_ventricular_noncompaction_cardiomyopathy\|Hypertrophic_cardiomyopathy\|Dilated_Cardiomyopathy\\\\x2c_Dominant\|Familial_restrictive_cardiomyopathy']	['conf\|single\|single\|single\|single\|single\|single\|single']	['RCV000168973.2\|RCV000230425.2\|RCV000230425.2\|RCV000230425.2\|RCV000283636.1\|RCV000323526.1\|RCV000338870.1\|RCV000378147.1']
1	212897348	T	TACAC	NA12878_ERR194147	['NC_000001.11:g.212897351_212897370dup20', 'NC_000001.11:g.212897365_212897370dupCACACA', 'NC_000001.11:g.212897367_212897370dupCACA', 'NC_000001.11:g.212897369_212897370dupCA']	[4, -1, -1, -1]	['.', '.', '.', '.']	[1, 1, 1, 1]	['.', '.', '.', '.']	['0', '3', '255', '0']	['MedGen:OMIM:Orphanet', 'MedGen:OMIM:Orphanet', 'MedGen:OMIM:Orphanet', 'MedGen:OMIM:Orphanet']	['C1836916:609033:ORPHA88628', 'C1836916:609033:ORPHA88628', 'C1836916:609033:ORPHA88628', 'C1836916:609033:ORPHA88628']	['Posterior_column_ataxia_with_retinitis_pigmentosa', 'Posterior_column_ataxia_with_retinitis_pigmentosa', 'Posterior_column_ataxia_with_retinitis_pigmentosa', 'Posterior_column_ataxia_with_retinitis_pigmentosa']	['single', 'single', 'conf', 'single']	['RCV000355025.1', 'RCV000297866.1', 'RCV000262602.1', 'RCV000351203.1']
1	215671030	C	T	NA12878_ERR194147	['NC_000001.11:g.215671031C>T']	[1]	['UniProtKB_(protein)']	[1]	['O75445#VAR_061351']	['255']	['MedGen']	['CN169374']	['not_specified']	['conf']	['RCV000041750.4']
1	237589773	AT	A	NA12878_ERR194147	['NC_000001.11:g.237589784delT']	[1]	['.']	[1]	['.']	['2\|255']	['MedGen:Orphanet:SNOMED_CT\|MedGen']	['C0878544:ORPHA167848:85898001\|CN169374']	['Cardiomyopathy\|not_specified']	['no_criteria\|conf']	['RCV000030420.1\|RCV000036734.8']
10	26088401	C	T	NA12878_ERR194147	['NC_000010.11:g.26088402C>T']	[1]	['.']	[1]	['.']	['255\|0']	['MedGen\|MedGen']	['CN169374\|CN239439']	['not_specified\|Nonsyndromic_Hearing_Loss\\\\x2c_Recessive']	['conf\|single']	['RCV000039026.3\|RCV000381484.1']
11	6392135	C	T	NA12878_ERR194147	['NC_000011.10:g.6392136C>T']	[1]	['.']	[1]	['.']	['255\|0']	['MedGen\|MedGen:SNOMED_CT']	['CN169374\|C0028064:58459009']	['not_specified\|Sphingomyelin/cholesterol_lipidosis']	['conf\|single']	['RCV000079188.5\|RCV000394529.1']
11	6617153	C	T	NA12878_ERR194147	['NC_000011.10:g.6617154C>A', 'NC_000011.10:g.6617154C>G', 'NC_000011.10:g.6617154C>T']	[1, 2, 3]	['.', 'OMIM_Allelic_Variant', '.']	[1, 1, 1]	['.', '607998.0004', '.']	['5', '5\|5\|5\|5\|5', '5']	['MedGen', 'MedGen:OMIM:Orphanet\|MedGen:OMIM:Orphanet\|MedGen\|MeSH:MedGen\|MedGen:OMIM:Orphanet:SNOMED_CT', 'MedGen']	['CN221809', 'C1876161:204500:ORPHA228349\|C1836474:609270:ORPHA284324\|CN221809\|D030342:C0950123\|C0027877:214200:ORPHA216:42012007', 'CN221809']	['not_provided', 'Ceroid_lipofuscinosis_neuronal_2\|Childhood-onset_autosomal_recessive_slowly_progressive_spinocerebellar_ataxia\|not_provided\|Inborn_genetic_diseases\|Neuronal_ceroid_lipofuscinosis', 'not_provided']	['single', 'mult\|single\|mult\|single\|single', 'single']	['RCV000391641.1', 'RCV000002763.11\|RCV000074608.7\|RCV000189765.4\|RCV000210689.1\|RCV000228119.2', 'RCV000189764.3']
11	47448802	C	T	NA12878_ERR194147	['NC_000011.10:g.47448803C>T']	[1]	['.']	[1]	['.']	['255']	['MedGen']	['CN169374']	['not_specified']	['conf']	['RCV000246056.2']
11	66510682	T	C	NA12878_ERR194147	['NC_000011.10:g.66510683T>C']	[1]	['.']	[1]	['.']	['255\|2']	['MedGen\|MedGen:OMIM:Orphanet:SNOMED_CT']	['CN169374\|C0752166:209900:ORPHA110:5619004']	['not_specified\|Bardet-Biedl_syndrome']	['conf\|single']	['RCV000173529.2\|RCV000226235.1']
12	102840473	T	C	NA12878_ERR194147	['NC_000012.12:g.102840474T>C']	[1]	['HGMD\|OMIM_Allelic_Variant\|UniProtKB_(protein)']	[1]	['CM910294\|612349.0017\|P00439#VAR_001038']	['5\|5\|5']	['MedGen\|MedGen\|MedGen:OMIM:Orphanet:SNOMED_CT']	['C0751435\|CN221809\|C0031485:261600:ORPHA716:154735006']	['Hyperphenylalaninemia\\\\x2c_non-pku\|not_provided\|Phenylketonuria']	['no_criteria\|single\|mult']	['RCV000000624.4\|RCV000078508.6\|RCV000150074.4']
14	23389061	AG	A	NA12878_ERR194147	['NC_000014.9:g.23389063delG']	[1]	['.']	[1]	['.']	['3\|255\|2\|0\|0\|0']	['MedGen:Orphanet:SNOMED_CT\|MedGen\|MedGen:OMIM\|MedGen:Orphanet\|MedGen\|Human_Phenotype_Ontology:MedGen:Orphanet']	['C0878544:ORPHA167848:85898001\|CN169374\|C2750467:613251\|C0018817:ORPHA1478\|CN239310\|HP:0001639:C0007194:ORPHA217569']	['Cardiomyopathy\|not_specified\|Familial_hypertrophic_cardiomyopathy_14\|Atrial_septal_defect\|Dilated_Cardiomyopathy\\\\x2c_Dominant\|Hypertrophic_cardiomyopathy']	['single\|conf\|single\|single\|single\|single']	['RCV000030306.1\|RCV000154759.3\|RCV000205051.2\|RCV000299696.1\|RCV000354591.1\|RCV000396023.1']
14	64210032	C	T	NA12878_ERR194147	['NC_000014.9:g.64210033C>T']	[2]	['OMIM_Allelic_Variant\|UniProtKB_(protein)']	[1]	['608442.0001\|Q8WXH0#VAR_062977']	['5\|255\|3']	['MedGen:OMIM\|MedGen\|MedGen:Orphanet:SNOMED_CT']	['C2751805:612999\|CN169374\|C0410189:ORPHA261:111508004']	['Emery-Dreifuss_muscular_dystrophy_5\\\\x2c_autosomal_dominant\|not_specified\|Emery-Dreifuss_muscular_dystrophy']	['no_criteria\|conf\|single']	['RCV000002414.4\|RCV000173937.3\|RCV000403391.1']
15	65078011	C	T	NA12878_ERR194147	['NC_000015.10:g.65078012C>T']	[1]	['.']	[1]	['.']	['255\|3']	['MedGen\|MedGen']	['CN169374\|CN239448']	['not_specified\|Nemaline_Myopathy\\\\x2c_Dominant']	['conf\|single']	['RCV000117307.4\|RCV000304321.1']
15	89645160	A	T	NA12878_ERR194147	['NC_000015.10:g.89645161A>T']	[1]	['.']	[1]	['.']	['255\|3']	['MedGen\|Gene:MedGen:OMIM:Orphanet']	['CN169374\|46:C0796147:200990:ORPHA36']	['not_specified\|Acrocallosal_syndrome\\\\x2c_Schinzel_type']	['conf\|single']	['RCV000117416.4\|RCV000261344.1']
16	2497032	C	G	NA12878_ERR194147	['NC_000016.10:g.2497033C>G']	[1]	['UniProtKB_(protein)']	[1]	['Q9ULP9#VAR_070890']	['255\|3\|3\|3']	['MedGen\|MedGen\|MedGen:OMIM\|MedGen:OMIM']	['CN169374\|C3809181\|C3892048:616044\|C3463992:308350']	['not_specified\|Caused_by_mutation_in_the_TBC1_domain_family\\\\x2c_member_24\|Deafness\\\\x2c_autosomal_dominant_65\|Epileptic_encephalopathy\\\\x2c_early_infantile\\\\x2c_1']	['conf\|single\|single\|single']	['RCV000128367.6\|RCV000477643.1\|RCV000477643.1\|RCV000477643.1']
16	56514588	C	T	NA12878_ERR194147	['NC_000016.10:g.56514589C\\\\x3d', 'NC_000016.10:g.56514589C>T']	[0, 1]	['OMIM_Allelic_Variant', '.']	[1, 1]	['606151.0013', '.']	['5', '2']	['MedGen', 'MedGen']	['C4016908', 'CN169374']	['Bardet-biedl_syndrome_2/6\\\\x2c_digenic', 'not_specified']	['no_criteria', 'single']	['RCV000004838.4', 'RCV000301991.1']
16	88805736	T	C	NA12878_ERR194147	['NC_000016.10:g.88805737T>C']	[1]	['UniProtKB_(protein)']	[1]	['Q9H211#VAR_054504']	['255']	['MedGen']	['CN169374']	['not_specified']	['conf']	['RCV000116652.3']
17	17796722	AAGG	A	NA12878_ERR194147	['NC_000017.11:g.17796729_17796731delGAG']	[1]	['HGMD']	[1]	['CD116392']	['255\|0']	['MedGen\|MedGen']	['CN169374\|CN221809']	['not_specified\|not_provided']	['conf\|single']	['RCV000082265.6\|RCV000118114.3']
18	2700878	A	G	NA12878_ERR194147	['NC_000018.10:g.2700879A>G']	[1]	['.']	[1]	['.']	['255']	['MedGen']	['CN169374']	['not_specified']	['conf']	['RCV000247697.2']
19	11132530	C	CA	NA12878_ERR194147	['NC_000019.10:g.11125285_11132532dup7248', 'NC_000019.10:g.11132532dupA']	[-1, 1]	['LDLR_@_LOVD', '.']	[5, 1]	['LDLR_000294', '.']	['255', '3']	['MedGen:OMIM:SNOMED_CT:SNOMED_CT', 'MedGen:OMIM:SNOMED_CT:SNOMED_CT']	['C0020445:143890:397915002:398036000', 'C0020445:143890:397915002:398036000']	['Familial_hypercholesterolemia', 'Familial_hypercholesterolemia']	['conf', 'single']	['RCV000237281.1', 'RCV000326993.1']
19	41414124	C	T	NA12878_ERR194147	['NC_000019.10:g.41414125C>T']	[1]	['HGMD\|UniProtKB_(protein)']	[1]	['CM021497\|P12694#VAR_034361']	['255\|3']	['MedGen\|MedGen:OMIM:Orphanet:SNOMED_CT']	['CN169374\|C0024776:248600:ORPHA268184:27718001']	['not_specified\|Maple_syrup_urine_disease']	['conf\|single']	['RCV000079243.6\|RCV000295914.1']
19	45179661	C	T	NA12878_ERR194147	['NC_000019.10:g.45179662C>T']	[1]	['.']	[1]	['.']	['255\|0']	['MedGen\|MedGen:SNOMED_CT']	['CN169374\|C0079504:9311003']	['not_specified\|Hermansky-Pudlak_syndrome']	['conf\|single']	['RCV000150192.3\|RCV000320201.1']
19	57231145	G	GC	NA12878_ERR194147	['NC_000019.10:g.57231150dupC']	[1]	['.']	[1]	['.']	['255']	['MedGen']	['CN239485']	['Spermatogenic_Failure']	['conf']	['RCV000311416.1']
2	178532038	C	T	NA12878_ERR194147	['NC_000002.12:g.178532039C>T']	[1]	['.']	[1]	['.']	['255\|2\|2\|2\|3\|3\|3\|3\|3\|3']	['MedGen\|MedGen:OMIM\|MedGen:OMIM:Orphanet\|MedGen\|MedGen:OMIM:Orphanet\|MedGen\|Human_Phenotype_Ontology:MedGen:Orphanet\|MedGen\|MedGen:OMIM:Orphanet\|MedGen:OMIM:Orphanet']	['CN169374\|C1858763:604145\|C1837342:608807:ORPHA140922\|CN230736\|C2673677:611705:ORPHA289377\|CN239352\|HP:0001639:C0007194:ORPHA217569\|CN239310\|C1863599:603689:ORPHA178464\|C1838244:600334:ORPHA609']	['not_specified\|Dilated_cardiomyopathy_1G\|Limb-girdle_muscular_dystrophy\\\\x2c_type_2J\|Cardiovascular_phenotype\|Myopathy\\\\x2c_early-onset\\\\x2c_with_fatal_cardiomyopathy\|Limb-Girdle_Muscular_Dystrophy\\\\x2c_Recessive\|Hypertrophic_cardiomyopathy\|Dilated_Cardiomyopathy\\\\x2c_Dominant\|Hereditary_myopathy_with_early_respiratory_failure\|Distal_myopathy_Markesbery-Griggs_type']	['conf\|single\|single\|single\|single\|single\|single\|single\|single\|single']	['RCV000040944.8\|RCV000231098.2\|RCV000231098.2\|RCV000244925.1\|RCV000296735.1\|RCV000311858.1\|RCV000336579.1\|RCV000351463.1\|RCV000402951.1\|RCV000403378.1']

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