Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES954	WT	HH	HZ	NC
chr1	6445936	6445936	G	A	splicing	ESPN	NM_001367473:exon7:c.1464+1G>A;NM_001367474:exon7:c.1464+1G>A;NM_031475:exon7:c.1464+1G>A	.	.	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	YES	.	.	.	.	.	.	.	1.0000	0.944	442877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_36	MedGen:C3661900|MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.566	18.17	4.35	2.250	6.153	15.62	.	.	.	.	1.721e-05	0	0	0	0	1.571e-05	0	6.187e-05	1.29e-05	2	154602	rs752649606	1.233e-05	1.231e-05	5.45e-06	1.927e-05	0.0002	7.7e-06	6.36e-06	0.0001	8.655e-05	0	0	0	0	0	0	8.995e-07	3.314e-05	0.0002	1.315e-05	1.313e-05	0	2.69e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17297	0.71396	D	0.214283	0.83886	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.117038	0.94599	34	0.99545362843443475	0.70773	0.77108	0.37877	D	AEFGBCI	.	.	.	0.99641452250496	0.95632	13.80947	0.804337271990419	0.90091	10.25321	0.9999999999998	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.956349	0.63754	4.35	4.35	0.51454	4.900000	0.62939	9.645000	0.81157	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.62	0.76548	834	0.38640	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	34	chr1	6445936	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=831;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=1.11;QD=11.01;ReadPosRankSum=-1.019e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1214,0,1083	20	0	1	0
chr1	158678434	158678434	A	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon6:c.T779C:p.L260P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	27883	Elliptocytosis_2|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.024	N	1.000	A	3.42	M	-1.43	T	0.642	D	0.700	D	0.966	2.859	15.52	4.66	2.080	8.035	13.354	0.839	0.242826543064	.	.	2.488e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs121918634	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.684e-05	0.0002	0	0	0	0	0	0	3.313e-05	0	5.256e-05	5.253e-05	3.853e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	9.563e-05	6.961e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.024363	0.26274	N	0.000000	1	0.81001	A	3.555	0.93317	H	-1.43	0.80730	T	-6.32	0.90852	D	0.929	0.93370	0.642	0.92447	D	0.700	0.89672	D	9	0.9909502	0.99610	D	0.242827	0.88776	D	0.839	0.94952	0.908	0.98109	0.961458484432	0.96104	0.9090546975298317	0.90879	0.26085393997	0.28643	0.527930021286	0.42742	T	0.721158	0.92121	D	0.229597	0.76683	D	0.371459	0.91123	D	0.975009918212891	0.70747	D	0.565643	0.19997	T	0.9721399	0.98456	0.9374833	0.97601	0.9683769	0.98107	0.9529345	0.98574	-14.304	0.94003	D	0.769383698944818	0.85050	0.928	0.84870	P	.;.	.;.	3.496289	0.48898	22.7	0.99791721544089274	0.87750	0.95258	0.64026	D	AEFBCI	0.962700	0.98439	D	0.628944081631176	0.75013	6.231428	0.443688455940145	0.64311	4.684	0.99989123174347	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	8.481000	0.90279	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.167000	0.20881	1.0:0.0:0.0:0.0	13.354	0.60061	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	33	chr1	158678434	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,38:91:99:811,0,1259	20	0	1	0
chr2	88576644	88576644	G	A	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon12:c.C1493T:p.P498L	Wolcott-Rallison syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1419605	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.54	M	1.69	T	-0.754	T	0.197	T	0.725	4.575	24.8	5.48	2.565	6.488	19.341	0.455	0.081945916687	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752306602	1.437e-05	1.436e-05	1.225e-05	1.65e-05	0.0002	9.23e-06	7.84e-06	0.0001	9.45e-05	2.987e-05	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.046	0.49120	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.88	0.83451	M	1.69	0.27032	T	-4.57	0.78721	D	0.85	0.84609	-0.7537	0.57742	T	0.197	0.55215	T	10	0.81030935	0.80322	D	0.081946	0.73794	D	0.455	0.75415	0.763	0.89133	0.846449383411	0.84497	0.8522391688266304	0.85185	0.710764796044	0.61698	0.77463966608	0.78120	T	0.431	0.77947	T	-0.1053	0.35547	T	-0.129353	0.61027	T	0.838449895381927	0.49201	D	0.953905	0.82456	D	0.35898674	0.57759	0.35219693	0.60802	0.35898674	0.57759	0.35219693	0.60801	-11.657	0.83140	D	.	.	0.192	0.41141	B	.;.;.	.;.;.	5.404019	0.90485	31	0.99892754348136192	0.96666	0.97850	0.77597	D	AEFBI	0.679481	0.64349	D	0.800846810237405	0.86157	8.796839	0.76607262895648	0.87352	9.192693	0.999998745440762	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	6.597000	0.73999	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.341	0.94330	841	0.37094	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	749.98	33	chr2	88576644	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=771;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-1.730e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:46,32:78:99:764,0,1048	20	0	1	0
chr2	178709578	178709578	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon96:c.A25009G:p.I8337V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1519	3	0	0	3	0.000986518	.	.	173342	Dilated_cardiomyopathy_1G|TTN-related_disorder|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Supraventricular_tachycardia|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|.|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	1.000	D	-1.025	N	1.23	T	-1.067	T	0.032	T	0.267	0.374	6.030	-0.833	-0.355	0.340	12.287	0.066	0.0104756147227	0.0002	.	0.0002	0	8.772e-05	0	0	0.0002	0.0011	0	0.0001294	20	154602	rs371826762	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0041	0.0036	0	0.0002	0.0025	7.596e-05	0	0.0056	0.0001	0.0003	3.487e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	6.803e-05	5.087e-05	2.405e-05	0	0	0.0023	0.0002	0	0.0238	0.0001	0.0005	0	0.583	0.05936	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.23	0.36872	T	-0.28	0.11547	N	0.113	0.10769	-1.0668	0.10131	T	0.032	0.13811	T	9	0.0077707767	0.00177	T	0.010476	0.27066	T	0.066	0.19193	.	.	0.119812018005	0.11559	.	.	0.0706562436126	0.07918	0.250583171844	0.03830	T	.	.	.	-0.358762	0.04200	T	-0.527412	0.19545	T	0.00681246974402369	0.00077	T	0.631037	0.28129	T	.	.	.	.	.	.	.	.	-1.64	0.02518	T	.	.	0.058	0.00670	B	.;.;.;.	.;.;.;.	0.402988	0.07739	4.423	0.6451002309517706	0.07513	0.03339	0.08418	N	AEFBI	0.124991	0.24131	N	-1.26632090298818	0.04088	0.1838568	-1.19982553831079	0.05914	0.2831301	0.00256020339293704	0.09527	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.9	-0.833	0.10237	0.338000	0.19599	.	.	-0.123000	0.13640	0.036000	0.20778	0.023000	0.20922	0.382000	0.26379	0.0:0.5554:0.0:0.4446	12.287	0.54114	369	0.84396	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.98	33	chr2	178709578	.	T	C	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.470e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1119,0,1223	20	0	1	0
chr5	110739163	110739163	G	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon1:c.G44A:p.R15Q	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	YES	431	1088	3	0	0	3	0.00137678	.	.	520552	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_motor_and_sensory,_type_6B	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.703	P	0.000	D	1.000	D	1.95	M	-2.07	D	0.385	D	0.655	D	0.529	4.449	23.7	3.97	1.197	6.384	12.95	0.512	0.669024271648	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs372382932	4.006e-05	3.899e-05	3.389e-05	4.641e-05	0.0002	3.164e-05	2.844e-05	3.445e-05	3.046e-05	0	0	0	0	0	0.0002	4.449e-05	1.726e-05	7.574e-05	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0003	1.715e-05	1.129e-05	8.873e-05	5.283e-05	2.412e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.703	0.54270	P	0.000054	0.53742	D	0.121669	0.999375	0.81001	D	2.32	0.66415	M	-2.07	0.86722	D	-0.95	0.25332	N	0.544	0.57433	0.385	0.88875	D	0.655	0.88012	D	10	0.65353465	0.69741	D	0.669024	0.97235	D	0.512	0.79094	.	.	0.74894119478	0.74667	0.6153829533266867	0.61470	0.0759007958584	0.08520	0.865649163723	0.91941	D	0.020416	0.16081	T	0.0210351	0.54521	T	-0.0210237	0.68961	D	0.649829745292664	0.38455	D	0.871313	0.57716	D	0.53494847	0.69112	0.6057321	0.77080	0.53494847	0.69113	0.6057321	0.77081	-4.307	0.28274	T	.	.	0.432	0.61306	A	.;.	.;.	4.524098	0.70963	25.6	0.99885608978975193	0.96049	0.81999	0.41297	D	ALL	0.674978	0.64052	D	0.530777707798563	0.68919	5.28398	0.501537179087623	0.68096	5.172866	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.88	3.97	0.45241	6.260000	0.72463	7.115000	0.57578	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.8367:0.1633	12.95	0.57792	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	38	chr5	110739163	.	G	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-1.710e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:23,36:59:99:876,0,461	20	0	1	0
chr5	138783229	138783229	G	C	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001290307:exon3:c.G158C:p.G53A	Macular dystrophy, patterned, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.872	P	0.705	P	0.000	D	1.000	D	2.565	M	1.14	T	-0.734	T	0.233	T	0.777	5.021	29.6	5.71	2.704	9.813	19.458	0.449	0.0298016028861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.571	0.47902	P	0.587	0.54320	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	1.14	0.50192	T	-4.75	0.80256	D	0.715	0.73555	-0.7338	0.58771	T	0.233	0.59953	T	10	0.69009626	0.71802	D	0.029802	0.52238	D	0.449	0.75004	0.523	0.62668	0.74418443796	0.74188	0.6178551982887122	0.61718	0.623089075282	0.56542	0.824554204941	0.85728	D	0.144529	0.81833	T	0.15507	0.69742	D	-0.0150292	0.69355	D	0.991934299468994	0.82306	D	0.989912	0.96822	D	0.49686974	0.66910	0.4543378	0.68271	0.49686974	0.66911	0.4543378	0.68271	-10.414	0.76351	D	0.6032830217688735	0.67044	0.993	0.95728	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.243913	0.88041	29.5	0.99762842982922051	0.85172	0.99388	0.95384	D	AEFGBI	0.962611	0.98426	D	0.565152398191243	0.71010	5.586284	0.627445119372814	0.76940	6.584647	0.999999999999999	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	10.003000	0.99689	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.458	0.94897	451	0.79296	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	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	0.025	41.67	31	chr5	138783229	.	G	C	41.67	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.903e+00;DP=901;ExcessHet=0.0000;FS=207.787;InbreedingCoeff=-0.0504;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.911;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,15:55:55:.:.:55,0,681	19	0	1	1
chr6	79487294	79487294	C	T	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon8:c.G1804A:p.A602T	Leber congenital amaurosis 5	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.42	B	0.142	B	0.009	N	0.801	N	1.78	L	1.45	T	-1.089	T	0.032	T	0.151	1.530	11.07	3.06	2.594	1.771	6.393	0.042	0.00876262375145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.214	0.26386	T	0.42	0.35330	B	0.142	0.33681	B	0.008987	0.30568	N	0.302761	0.800913	0.29116	N	1.905	0.50856	L	1.45	0.32482	T	-0.71	0.20145	N	0.11	0.09631	-1.0895	0.05616	T	0.032	0.13592	T	10	0.07960212	0.12823	T	0.008763	0.23123	T	0.042	0.11227	0.302	0.27003	0.557090038421	0.55369	0.14585859686984937	0.14507	0.0729793403314	0.08176	0.343767911196	0.17000	T	0.08335	0.37035	T	-0.203965	0.20235	T	-0.530758	0.19210	T	0.516338050365448	0.33230	D	0.687031	0.29593	T	0.07728025	0.17530	0.05560244	0.09783	0.07728025	0.17530	0.05560244	0.09782	-2.69	0.07219	T	0.4612360741487166	0.54341	0.129	0.27583	B	.;.	.;.	2.998620	0.40058	21.1	0.93816275829678986	0.23794	0.73489	0.35947	D	AEFBI	0.191982	0.31916	N	0.104287137318852	0.46662	2.903201	0.196178623831447	0.49637	3.164528	9.742792297922E-4	0.08079	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.55	3.06	0.34374	1.785000	0.38315	1.752000	0.28483	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3711:0.5363:0.0:0.0926	6.393	0.20798	569	0.70546	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1776.98	41	chr6	79487294	.	C	T	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=939;ExcessHet=0.0000;FS=5.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.405;SOR=1.021	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1791,0,1675	20	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/1:114,67:190:99:491,0,2241	9	0	6	6
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,47,0:154:99:0|1:92517375_C_T:285,0,2783,601,2914,3515:92517375	8	0	4	8
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:321,95:416:99:1229,0,10756	4	0	17	0
chr8	89981417	89981417	G	A	exonic	NBN	.	nonsynonymous SNV	NBN:NM_002485:exon3:c.C278T:p.S93L	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome, Autosomal recessive	YES	5	1515	2	0	0	2	0.000659631	.	.	151941	Malignant_tumor_of_breast|Microcephaly,_normal_intelligence_and_immunodeficiency|Hereditary_cancer-predisposing_syndrome|not_provided|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.944	P	0.461	P	0.026	N	0.878	D	1.545	L	0.18	T	0.443	D	0.612	D	0.217	3.693	18.76	5.71	2.682	5.441	19.844	0.457	0.0811154088027	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0044	0.0006015	93	154602	rs12721593	0.0004	0.0004	0.0002	0.0005	0.0045	0.0004	0.0004	0.0042	0.0040	5.975e-05	8.944e-05	0	0	9.362e-05	0	0.0001	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.244e-05	0.0026	0.0021	2.41e-05	0	0	0	0	0	0	5.883e-05	0	0.0039	0.004	0.65419	D	0.041	0.56192	D	0.944	0.53183	P	0.461	0.46460	P	0.026024	0.25988	N	0.469798	0.878238	0.35697	D	2.02	0.55341	M	-2.34	0.87989	D	-3.08	0.67941	D	0.234	0.27197	0.443	0.89732	D	0.612	0.86267	D	10	0.013203561	0.00281	T	0.081115	0.73610	D	0.457	0.75551	.	.	0.951362630218	0.95084	0.3475136658926152	0.34665	0.111525478306	0.12590	0.354317069054	0.18556	T	0.372479	0.73665	T	-0.293759	0.09262	T	-0.194749	0.55143	T	0.102795711967771	0.12662	T	0.913209	0.70302	D	0.29610965	0.52554	0.45432168	0.68270	0.26362443	0.49428	0.41867685	0.65884	-11.508	0.82372	D	.	.	0.122	0.25882	B	.;.;.;.;.	.;.;.;.;.	4.124567	0.61670	24.4	0.99882310107774175	0.95813	0.90895	0.52464	D	AEFDBCI	0.668672	0.63637	D	0.436439098388469	0.63439	4.577505	0.468873688622854	0.65937	4.887405	0.999999999999903	0.74766	0.75658	0.98901	0	0.672317	0.65289	0	0.658983	0.55881	0	0.656636	0.63459	0	.	.	5.71	5.71	0.89031	7.172000	0.77164	6.514000	0.55815	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:0.0:1.0:0.0	19.844	0.96699	896	0.25515	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2059.08	33	chr8	89981417	.	G	A	2059.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.28;SOR=1.352	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2087,204,0	20	1	0	0
chr8	143215486	143215486	G	C	exonic	GPIHBP1	.	nonsynonymous SNV	GPIHBP1:NM_178172:exon4:c.G523C:p.G175R,	Hyperlipoproteinemia, type 1D, Autosomal recessive	YES	402	1117	3	0	0	3	0.00134108	.	.	153747	Hyperlipoproteinemia,_type_1D|GPIHBP1-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.831	P	0.868	N	1.000	N	0.695	N	-1.8	D	-0.539	T	0.345	T	0.314	2.100	12.98	-4.12	-1.291	-0.429	5.997	0.721	0.0667380994633	0.0021	0.00219649	0.0011	0.0073	0.0021	0	0	0.0005	0.0044	0	0.0008473	131	154602	rs145844329	0.0006	0.0006	0.0006	0.0006	0.0053	0.0006	0.0006	0.0047	0.0044	0.0053	0.0017	0.0005	0	0.0001	0.0020	0.0005	0.0014	5.814e-05	0.0020	0.0020	0.0020	0.0020	0.0055	0.0018	0.0017	0.0049	0.0047	0.0055	0	0.0012	0.0012	0	9.411e-05	0.0102	0.0005	0.0043	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.867515	0.08849	N	0.924044	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.184	0.19995	-0.5388	0.67208	T	0.345	0.71004	T	10	0.01230523	0.00265	T	0.066738	0.69964	D	.	.	.	.	0.488757021912	0.48508	0.783717957866859	0.78322	.	.	0.358868032694	0.19220	T	.	.	.	-0.502283	0.00555	T	-0.492214	0.23159	T	0.0388956787987601	0.03491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63033	A	.	.	0.652615	0.10212	6.949	0.93599898295013573	0.23457	0.03907	0.09289	N	AEFDBI	0.105086	0.21008	N	-0.713715911269836	0.15635	0.7897153	-0.971493214629424	0.10429	0.5251846	0.107372829030956	0.16554	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.19	-4.12	0.03650	-1.759000	0.01906	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6117:0.1518:0.2366:0.0	5.997	0.18731	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	46	chr8	143215486	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=903;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.491;SOR=0.569	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1064,0,907	20	0	1	0
chr9	13206036	13206036	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon11:c.G1354A:p.G452R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.001	D	1.000	D	2.51	M	0.76	T	-0.451	T	0.347	T	0.789	4.217	21.9	6.17	2.941	5.801	19.651	0.446	0.0222801088254	.	.	8.518e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs749740776	1.369e-06	1.368e-06	0	2.752e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000516	0.43753	D	0.000000	0.999999	0.58761	D	2.75	0.80375	M	0.76	0.49919	T	-7.05	0.93856	D	0.669	0.72746	-0.4511	0.70364	T	0.347	0.71186	T	10	0.80933845	0.80235	D	0.02228	0.45152	T	0.446	0.74797	0.577	0.70217	0.6507085132	0.64780	0.6993112114150418	0.69872	.	.	0.641533851624	0.58782	T	0.140825	0.47556	T	0.12792	0.67158	D	-0.0540281	0.66747	D	0.848120342373097	0.50004	D	0.956938	0.85427	D	0.40625045	0.61163	0.47328448	0.69469	0.40625045	0.61164	0.47328448	0.69469	-11.878	0.84251	D	.	.	0.378	0.66325	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314025	0.65970	24.9	0.99944052586096943	0.99868	0.91140	0.52938	D	AEFDBHCIJ	0.713789	0.66647	D	0.800178952187788	0.86116	8.783542	0.76222932149692	0.87066	9.096122	0.999999999788585	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.726000	0.68163	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	19.651	0.95800	614	0.66605	PDZ domain|PDZ domain|PDZ domain;.;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	35	chr9	13206036	.	C	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=871;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-4.700e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2371,0,1885	20	0	1	0
chr9	97675578	97675578	C	T	exonic	XPA	.	nonsynonymous SNV	XPA:NM_000380:exon6:c.G683A:p.R228Q	Xeroderma pigmentosum, group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	139202	Xeroderma_pigmentosum|Xeroderma_pigmentosum_group_A|not_specified|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.999	D	0.749	P	0.000	D	1.000	D	1.21	L	0.19	T	-0.836	T	0.237	T	0.69	3.458	17.72	5.32	2.941	5.080	18.314	0.164	0.0091672645802	0.0002	.	0.0002	0	0.0005	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs1805160	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0.0004	0	0	1.873e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.251e-05	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0	0.0002	0.0005	0	0.324	0.13392	T	0.414	0.14369	T	0.999	0.77913	D	0.749	0.56004	P	0.000041	0.55875	D	0.120373	0.999976	0.53665	D	1.445	0.36358	L	0.19	0.60236	T	-0.34	0.12661	N	0.571	0.59393	-0.8361	0.52904	T	0.237	0.60415	T	10	0.30437988	0.47963	T	0.009167	0.24107	T	0.164	0.42212	.	.	0.778699477751	0.77666	0.5068949228481926	0.50611	0.348634746703	0.36727	0.455722332001	0.32725	T	0.13331	0.46391	T	-0.142294	0.29524	T	-0.114211	0.62274	T	0.0832293260933461	0.10395	T	0.968903	0.88767	D	0.2574539	0.48789	0.16138756	0.37542	0.2574539	0.48789	0.16138756	0.37541	-7.794	0.59658	D	0.27995976538383904	0.37509	0.155	0.34205	B	.	.	4.321340	0.66145	24.9	0.99627310574728833	0.75837	0.93529	0.58465	D	AEFBCI	0.637600	0.61632	D	0.545348310304314	0.69798	5.408643	0.59074979274206	0.74272	6.10945	0.999999999999726	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.303000	0.65530	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.314	0.90153	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	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	0.02381	1385.98	35	chr9	97675578	.	C	T	1385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=859;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=2.24;SOR=0.613	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1400,0,1982	20	0	1	0
chr10	28616202	28616202	A	G	exonic	WAC	.	nonsynonymous SNV	WAC:NM_100486:exon11:c.A1277G:p.N426S	Desanto-Shinawi syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.99	D	0.979	D	0.000	D	1.000	D	0.895	L	0.87	T	-0.991	T	0.153	T	0.097	2.579	14.58	5.51	2.225	8.910	15.925	0.161	0.0175587853424	.	.	8.325e-06	9.63e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs200723559	7.548e-06	7.524e-06	6.825e-06	8.278e-06	5.987e-05	4.05e-06	2.96e-06	9.91e-06	3.71e-06	5.987e-05	0	0	0	0	0	7.211e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.721	0.12704	T	0.958	0.63424	D	0.763	0.74454	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.955	0.52871	M	0.87	0.46412	T	-0.86	0.26422	N	0.606	0.65587	-0.9911	0.32321	T	0.153	0.48274	T	10	0.39020246	0.54836	T	0.017559	0.39307	T	0.161	0.41658	0.158	0.06178	0.309278343525	0.30543	0.5129718324782301	0.51219	0.471905473178	0.46439	0.53257060051	0.43397	T	0.022149	0.19707	T	-0.29562	0.09078	T	-0.480886	0.24352	T	0.412787113171348	0.29422	T	0.978002	0.92190	D	0.39335003	0.60269	0.38982183	0.63792	0.39335003	0.60269	0.38982183	0.63792	-1.399	0.01778	T	.	.	0.073	0.08657	B	.;.;.;.	.;.;.;.	4.378855	0.67476	25.1	0.99694186398609241	0.80180	0.99378	0.95249	D	AEFBI	0.898612	0.84210	D	0.457896562310662	0.64654	4.724686	0.535174124551449	0.70373	5.495638	0.999957284795114	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.867000	0.91934	11.305000	0.92359	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.925	0.79395	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1405.98	35	chr10	28616202	.	A	G	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=868;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.589e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1420,0,1510	20	0	1	0
chr11	5225678	5225678	C	G	exonic	HBB	.	nonsynonymous SNV	HBB:NM_000518:exon3:c.G364C:p.E122Q,	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	YES	0	1497	24	1	0	26	0.00860927	.	.	30191	beta_Thalassemia|Hb_D-Los_Angeles|HBB-related_disorder|not_provided|Heinz_body_anemia|Hemoglobin_D_disease|Hb_SS_disease	MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848|.|MedGen:CN239378|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.174	B	0.007	B	.	.	1.000	N	2.69	M	-3.36	D	0.285	D	0.784	D	0.896	1.164	9.736	4.68	2.589	4.047	15.475	0.575	0.23278745787	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0001	0.0022	0.0043	0.000608	94	154602	rs33946267	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	5.974e-05	0.0001	0	0	0	0.0019	0.0002	0.0004	0.0051	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0025	7.22e-05	0	0	0	0	0	0	0.0001	0	0.0044	0.006	0.61437	D	0.109	0.37449	T	0.174	0.28827	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	3.045	0.86684	M	-3.36	0.94067	D	-1.73	0.41046	N	0.509	0.54059	0.285	0.87314	D	0.784	0.92663	D	9	0.017982274	0.00387	T	0.232787	0.88337	D	0.575	0.82799	.	.	0.993264840891	0.99319	0.7264923966125129	0.72593	0.0337626008877	0.03542	0.372132986784	0.21138	T	0.027149	0.19941	T	0.0928782	0.63512	D	0.36159	0.90762	D	0.0634609066813779	0.07702	T	0.866213	0.56644	D	0.3287237	0.55366	0.21583228	0.46188	0.36926448	0.58531	0.18763994	0.42007	-8.299	0.63089	D	0.3426908369855942	0.44034	0.204	0.42877	B	.;.	.;.	3.065211	0.41183	21.3	0.97588656222229542	0.34780	0.90271	0.51315	D	AEFDGBHCI	0.869951	0.79071	D	-0.0666117936946236	0.38864	2.282815	-0.0677246373714052	0.36733	2.141517	0.99999999999992	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	4.942000	0.63247	.	.	0.599000	0.40250	0.984000	0.35821	0.903000	0.28003	0.060000	0.15972	0.0:1.0:0.0:0.0	15.475	0.75199	862	0.33134	Globin;Globin	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	779.98	33	chr11	5225678	.	C	G	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=778;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-1.921e+00;SOR=0.923	GT:AD:DP:GQ:PL	0/1:45,34:79:99:794,0,1100	20	0	1	0
chr13	32340455	32340455	C	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.C6100T:p.R2034C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	49997	Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.16	T	0.876	P	0.118	B	0.959	N	1.000	N	0	N	5.73	T	-0.915	T	0.001	T	0.62	0.809	8.253	1.77	0.757	-0.259	3.261	0.181	0.181494877087	0.0040	0.00139776	0.0032	0.0020	0.0038	0	0.0002	0.0049	0.0011	0	0.0034928	540	154602	rs1799954	0.0046	0.0046	0.0048	0.0045	0.0056	0.0045	0.0045	0.0055	0.0054	0.0017	0.0041	0.0013	5.044e-05	0.0003	0.0016	0.0056	0.0043	4.638e-05	0.0034	0.0034	0.0038	0.0030	0.0053	0.0031	0.0030	0.0049	0.0047	0.0014	0.0132	0.0043	0.0012	0.0002	0	0.0034	0.0053	0.0038	0	0.016	0.51853	D	0.163	0.31125	T	.	.	.	.	.	.	0.958965	0.08237	N	0.981833	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.92	0.61129	D	0.205	0.22742	-0.9150	0.46220	T	0.001	0.00348	T	10	0.006237477	0.00141	T	0.181495	0.85559	D	0.181	0.45247	.	.	0.83472859845	0.83315	0.21720949376217583	0.21636	0.0217662487464	0.02172	0.215782105923	0.01081	T	.	.	.	-0.471652	0.00830	T	-0.445707	0.28172	T	0.0217174328020198	0.00877	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.06942	B	.;.	.;.	1.622599	0.20726	14.88	0.99669379636117372	0.78458	0.12584	0.17358	N	AEFGBI	0.144224	0.26713	N	-0.659152104289088	0.17195	0.8826905	-0.713915510446324	0.16614	0.8797485	0.950777945610966	0.27916	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.72	1.77	0.23848	-0.243000	0.08933	0.066000	0.14196	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.214:0.5303:0.1049:0.1509	3.261	0.06444	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	2506.98	110	chr13	32340455	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=2255;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.220e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:110,103:213:99:2521,0,2556	20	0	1	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:21,14:35:99:108,0,330	9	0	10	2
chr15	66781000	66781000	C	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.C956T:p.A319V,	Aortic valve disease 2, Autosomal dominant	YES	0	1508	14	0	0	14	0.00462046	.	.	400802	not_provided|Inborn_genetic_diseases|Aortic_valve_disease_2|SMAD6-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.846	P	0.297	B	0.000	D	1.000	D	1.39	L	-4.12	D	0.697	D	0.813	D	0.562	3.608	18.37	5.6	2.639	5.977	19.599	0.527	0.0767883996253	0.0003	0.000998403	0.0013	0.0004	0.0015	0	0	0.0012	0	0.0021	0.0003881	60	154602	rs148705603	0.0003	0.0003	0.0003	0.0003	0.0040	0.0003	0.0003	0.0028	0.0023	3.076e-05	0.0002	0	2.663e-05	0.0001	0.0040	0.0002	0.0005	0.0016	0.0002	0.0002	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	2.405e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0023	0.035	0.43708	D	0.075	0.42794	T	0.846	0.46778	P	0.297	0.40924	B	0.000043	0.53742	D	0.162323	0.999986	0.54805	D	1.25	0.31749	L	-4.2	0.96934	D	-1.21	0.30762	N	0.08	0.05542	0.697	0.93135	D	0.813	0.93694	D	10	0.014975667	0.00314	T	0.076788	0.72616	D	0.527	0.80007	.	.	0.899869699253	0.89888	0.3696680241509792	0.36880	0.287055191876	0.31101	0.611766695976	0.54566	T	0.352602	0.72001	T	-0.0999958	0.36426	T	0.064572	0.74549	D	0.0235789092115007	0.01093	T	0.859414	0.55137	D	0.13933204	0.32190	0.15219748	0.35819	0.13933204	0.32190	0.15219748	0.35819	-4.001	0.23819	T	0.16263586563156013	0.19990	0.182	0.39477	B	.	.	3.598537	0.50813	23.0	0.99710938985853192	0.81353	0.90917	0.52507	D	AEFGBCI	0.759812	0.69802	D	0.313917936354864	0.56863	3.85174	0.437907202079968	0.63944	4.638658	0.999999999997117	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	6.058000	0.70754	7.601000	0.61564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.599	0.95546	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	716.98	33	chr15	66781000	.	C	T	716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.143e+00;DP=649;ExcessHet=0.0000;FS=1.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.880e-01;SOR=0.379	GT:AD:DP:GQ:PL	0/1:8,24:32:99:731,0,222	20	0	1	0