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	964514	964514	C	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon11:c.C1684A:p.P562T,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.258	B	0.098	B	0.000	D	1.000	D	2.835	M	-1.25	T	0.018	D	0.491	T	0.601	1.580	11.24	4.82	2.376	4.771	18.271	0.464	0.157929298807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.185	0.28958	T	0.258	0.31443	B	0.098	0.30479	B	0.000208	0.47681	D	0.186748	1	0.81001	D	3.02	0.86243	M	-1.25	0.79072	T	-0.69	0.19720	N	0.691	0.69649	0.018	0.82625	D	0.491	0.80648	T	10	0.68266016	0.71373	D	0.157929	0.83842	D	0.464	0.76023	0.489	0.57415	0.896325372	0.89529	0.2854711482643828	0.28460	.	.	0.840892612934	0.88230	D	0.258844	0.63004	T	0.0942172	0.63662	D	-0.10244	0.63209	T	0.978278815746307	0.72246	D	0.949105	0.80429	D	0.13519858	0.31385	0.09050622	0.21226	0.13519858	0.31385	0.09050622	0.21226	-6.473	0.50078	T	0.2648727734121405	0.35717	0.380	0.58416	A	.	.	2.518021	0.32531	19.07	0.93009551941875068	0.22602	0.95999	0.67077	D	AEFBI	0.594228	0.58924	D	0.133725111346278	0.48043	3.021629	0.165455885546709	0.47966	3.019133	0.999994206069141	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	3.240000	0.51066	.	.	0.597000	0.34315	0.995000	0.38783	1.000000	0.68203	0.022000	0.11911	0.0:1.0:0.0:0.0	18.271	0.90007	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	33	chr1	964514	.	C	A	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.378;DP=863;ExcessHet=0.0000;FS=3.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.41;ReadPosRankSum=5.78;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1256	20	0	1	0
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	7965334	7965334	C	T	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon3:c.C101T:p.T34I	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	794726	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_7	MedGen:C3661900|MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.453	P	0.476	P	0.000	N	1.000	D	2.165	M	-0.8	T	-0.251	T	0.410	T	0.235	1.338	10.40	3.63	1.459	2.953	8.958	0.246	0.0413771469861	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.88e-05	6	154602	rs772272696	3.763e-05	3.831e-05	2.587e-05	4.951e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.529e-05	0.0001	0.0003	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0006	5.24e-06	2.46e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.012	0.54683	D	0.062	0.53426	T	0.453	0.36131	P	0.476	0.46961	P	0.000009	0.62929	N	0.175344	0.999997	0.58761	D	1.66	0.42513	L	-0.8	0.73845	T	-4.09	0.74821	D	0.418	0.45803	-0.2505	0.76346	T	0.410	0.75880	T	10	0.35414952	0.52205	T	0.041377	0.59893	D	0.246	0.55340	0.572	0.69564	0.41767021734	0.41382	0.8276744113220157	0.82725	0.17338185284	0.19527	0.709249317646	0.68485	T	0.546008	0.84542	D	-0.276249	0.11069	T	-0.306628	0.44021	T	0.197370011526547	0.20270	T	0.792521	0.49094	T	0.5963514	0.72495	0.40220112	0.64709	0.5963514	0.72496	0.40220112	0.64709	-7.257	0.55889	T	0.2162952216051809	0.29093	0.233	0.50232	B	.;.;.;.;.;.	.;.;.;.;.;.	2.688246	0.35084	19.80	0.97580395404128706	0.34731	0.91714	0.54108	D	AEFBI	0.679799	0.64370	D	0.0942722688033897	0.46195	2.863699	0.0899678424005548	0.44043	2.693708	0.999979985192047	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	3.63	0.40741	3.164000	0.50470	2.646000	0.33784	0.549000	0.26987	0.994000	0.38300	0.993000	0.31925	0.067000	0.16453	0.0:0.8051:0.0:0.1949	8.958	0.34991	824	0.40336	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;.;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2055.08	34	chr1	7965334	.	C	T	2055.08	.	AC=2;AF=0.048;AN=42;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.62;SOR=1.010	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chr1	11801164	11801164	C	A	exonic	MTHFR	.	stopgain	MTHFR:NM_001330358:exon3:c.G595T:p.G199X	Homocystinuria due to MTHFR deficiency, Autosomal recessive	YES	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.783	46	5.66	2.668	7.175	18.320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.098581	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.923	0.92667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.60412	0.97692	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive;.;.;.;.	.;High;High;.;.;.;.	10.933676	0.99877	50	0.99311217065053148	0.59017	0.94183	0.60365	D	AEFGBCI	0.247806	0.36832	N	1.14629666135424	0.98903	19.81644	0.999139086605694	0.98610	18.78838	1.0	0.98316	0.566229	0.32551	0	0.615513	0.52658	0	0.554053	0.18673	1	0.636168	0.56350	0	.	.	5.66	5.66	0.87293	7.254000	0.77751	7.624000	0.62436	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	18.320	0.90175	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	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	1641.98	37	chr1	11801164	.	C	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.887e+00;DP=816;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.659;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	20	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I,	.	YES	415	1086	21	0	0	21	0.00957592	.	.	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.969	D	0.000	D	1.000	D	2.35	M	-3.46	D	0.983	D	0.897	D	0.82	3.594	18.30	4.38	2.454	5.592	16.050	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	1578.98	37	chr1	15445660	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=893;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.736;SOR=0.580	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	17270928	17270928	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon8:c.C881T:p.A294V,	Uncombable hair syndrome, Autosomal recessive	YES	411	1102	9	0	0	9	0.00406688	.	.	361772	not_provided|PADI3-related_disorder|Uncombable_hair_syndrome_1|not_specified	MedGen:C3661900|.|MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	3.025	M	1.44	T	-0.568	T	0.195	T	0.364	5.382	34	5.55	2.613	7.236	18.078	0.448	.	0.0074	0.00279553	0.0067	0.0009	0.0020	0	0.0056	0.0097	0.0055	0.0052	0.006714	1038	154602	rs144080386	0.0077	0.0077	0.0077	0.0077	0.0084	0.0076	0.0075	0.0082	0.0082	0.0011	0.0031	0.0162	2.519e-05	0.0073	0.0028	0.0084	0.0069	0.0059	0.0062	0.0062	0.0062	0.0062	0.0093	0.0059	0.0058	0.0087	0.0085	0.0016	0	0.0055	0.0181	0.0002	0.0068	0.0034	0.0093	0.0024	0.0046	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053221	0.99997	0.53665	D	3.14	0.88230	M	1.44	0.32722	T	-3.64	0.69835	D	0.985	0.99410	-0.5675	0.66114	T	0.195	0.54927	T	10	0.02340281	0.00611	T	.	.	.	0.448	0.74935	.	.	0.514980250562	0.51141	0.7737417385154324	0.77324	0.51335870114	0.49332	0.731342971325	0.71702	T	0.222814	0.58677	T	-0.365675	0.03819	T	-0.287656	0.46015	T	0.0248844591339173	0.01257	T	.	.	.	0.7620526	0.81574	0.66998434	0.80638	0.7620526	0.81576	0.66998434	0.80639	-7.261	0.55918	T	.	.	0.469	0.63129	A	.	.	4.461336	0.69433	25.4	0.99917547079578173	0.98518	0.98826	0.87362	D	AEFDI	0.786183	0.71634	D	0.903074328166432	0.91909	11.12968	0.851287722356534	0.93089	11.81852	0.999999999992077	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	7.376000	0.78918	4.062000	0.41595	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.0:1.0:0.0:0.0	18.078	0.89362	689	0.59000	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	77	chr1	17270928	.	C	T	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=801;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.067;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	20	0	1	0
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	216792	Inborn_genetic_diseases|not_specified|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|not_provided|EMC1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.994	D	0.828	P	0.000	D	1.000	D	1.5	L	0.89	T	-0.931	T	0.172	T	0.369	4.428	23.5	5.08	2.873	4.740	15.580	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1347.98	37	chr1	19243991	.	G	A	1347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=862;ExcessHet=0.0000;FS=4.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.140e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1344	20	0	1	0
chr1	21865797	21865797	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon34:c.G4237A:p.G1413S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	194067	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	3.46	M	0.56	T	0.085	D	0.444	T	0.874	3.852	19.57	4.96	2.579	4.285	15.726	0.538	0.0440045860523	7.7e-05	0.000399361	0.0001	0.0006	0	0	0	7.516e-05	0.0011	0.0003	0.0001294	20	154602	rs146184130	6.911e-05	6.909e-05	6.264e-05	7.565e-05	0.0006	5.781e-05	5.393e-05	0.0004	0.0003	0.0006	0	0	5.038e-05	1.884e-05	0.0005	4.497e-05	9.937e-05	0.0002	0.0001	0.0001	0.0002	0.0001	0.0005	8.664e-05	7.256e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001845	0.37840	N	0.000000	0.999993	0.58761	D	3.145	0.88303	M	0.56	0.54540	T	-5.3	0.84387	D	0.641	0.65330	0.085	0.83899	D	0.444	0.78100	T	10	0.5821164	0.65907	D	0.044005	0.61272	D	0.538	0.80664	.	.	0.544652427739	0.54119	0.6690304417805694	0.66841	0.283419385945	0.30787	0.549377143383	0.45769	T	0.39257	0.75220	T	0.0185044	0.54180	T	0.146288	0.79950	D	0.298339540131351	0.24935	T	0.777122	0.65471	T	0.74496347	0.80577	0.74197656	0.84748	0.74496347	0.80579	0.74197656	0.84749	-11.242	0.80968	D	.	.	0.376	0.58191	A	.;.	.;.	3.673083	0.52245	23.2	0.99846418238267398	0.92663	0.90287	0.51344	D	AEFGBHCI	0.692618	0.65222	D	0.668207086893226	0.77553	6.69662	0.538612069329181	0.70608	5.530407	0.999999999999991	0.74766	0.67177	0.52595	0	0.518115	0.08659	0	0.601644	0.32324	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	4.447000	0.59762	7.664000	0.64404	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:1.0:0.0:0.0	15.726	0.77524	811	0.42639	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1536.98	35	chr1	21865797	.	C	T	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.293;DP=864;ExcessHet=0.0000;FS=2.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.153e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr1	25563142	25563142	C	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon6:c.C605A:p.S202Y,	Hypercholesterolemia, familial, autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	19815	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_4	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.885	P	0.252	N	0.000	A	2.005	M	0.34	T	-0.483	T	0.253	T	0.131	3.054	16.19	3.65	0.824	0.623	6.553	0.098	0.0801955060383	.	0.00159744	0.0012	0.0029	0.0026	0	0	0.0011	0.0034	0.0005	0.0010026	155	154602	rs121908326	0.0008	0.0008	0.0007	0.0008	0.0102	0.0007	0.0007	0.0082	0.0074	0.0030	0.0023	0.0031	0	0	0.0102	0.0005	0.0017	0.0006	0.0016	0.0017	0.0015	0.0018	0.0032	0.0015	0.0014	0.0027	0.0026	0.0032	0	0.0023	0.0014	0	0	0.0136	0.0009	0.0038	0.0015	0.01	0.56456	D	0.019	0.59159	D	0.974	0.57829	D	0.736	0.55529	P	0.251599	0.15498	N	0.673517	2.3949e-08	0.08975	A	2.105	0.58435	M	0.34	0.58176	T	-2.47	0.53898	N	0.36	0.40164	-0.4832	0.69252	T	0.253	0.62292	T	9	0.15271023	0.28839	T	0.080196	0.73407	D	0.098	0.28162	.	.	0.709925836417	0.70739	0.31660069560800125	0.31573	0.41760807969	0.42376	0.328747093678	0.14745	T	0.378373	0.74136	T	-0.494866	0.00611	T	-0.485407	0.23874	T	0.0185350502983893	0.00569	T	0.562644	0.19782	T	0.0788591	0.17983	0.08232798	0.18780	0.07735178	0.17550	0.09610253	0.22821	-6.873	0.53100	T	0.5453829937669651	0.61455	0.104	0.18869	B	.	.	2.329097	0.29836	18.25	0.98926678021605186	0.48657	0.07244	0.13268	N	AEFDBI	0.070493	0.13996	N	-0.123987220858582	0.36349	2.099917	-0.314463246413492	0.27632	1.53461	0.999994984250148	0.74766	0.646311	0.45356	0	0.71359	0.82159	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	0.592000	0.23685	1.138000	0.24381	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6771:0.1588:0.1641	6.553	0.21640	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	35	chr1	25563142	.	C	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=1350;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-2.260e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	20	0	1	0
chr1	26058484	26058484	A	T	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon5:c.T737A:p.I246N,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.207	B	0.106	B	0.000	D	0.983	D	2.215	M	0.89	T	-1.001	T	0.112	T	0.506	2.353	13.83	3.15	0.369	1.991	7.353	0.200	0.0259062497016	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs751834690	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0003	4.047e-05	4.967e-05	0.0002	3.943e-05	3.94e-05	2.57e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.048	0.40068	D	0.057	0.46406	T	0.207	0.29891	B	0.106	0.31143	B	0.000010	0.62929	D	0.149749	0.982539	0.39903	D	2.215	0.62545	M	0.89	0.45636	T	-3.16	0.64246	D	0.786	0.78262	-1.0011	0.29602	T	0.112	0.40075	T	10	0.64110816	0.69062	D	0.025906	0.48854	D	0.200	0.48430	0.502	0.59460	0.395289904662	0.39143	0.7605954958857244	0.76007	0.657483067834	0.58699	0.639129638672	0.58441	T	0.715226	0.91908	D	-0.282996	0.10352	T	-0.352132	0.38960	T	0.289428681135178	0.24566	T	0.776522	0.40874	T	0.5796899	0.71592	0.33347118	0.59183	0.5796899	0.71593	0.33347118	0.59183	-9.859	0.73063	D	.	.	0.225	0.45702	B	.	.	3.154724	0.42722	21.6	0.97486123199336694	0.34214	0.88036	0.47792	D	AEFGBI	0.410139	0.48113	N	-0.238672972915784	0.31558	1.770739	-0.148059369265145	0.33482	1.915774	0.987068973636989	0.31178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.5	3.15	0.35301	1.989000	0.40328	4.736000	0.44580	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8005:0.0:0.0709:0.1286	7.353	0.25873	720	0.55521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1239.98	34	chr1	26058484	.	A	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=789;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.600;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr1	27550705	27550705	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G1411A:p.V471M	Xia-Gibbs syndrome, Autosomal dominant	YES	419	1101	2	0	0	2	0.000907441	.	.	363798	not_provided|AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome|AHDC1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.907	P	0.008	U	0.999	D	0.55	N	0.34	T	-0.827	T	0.131	T	0.169	3.296	17.07	4.42	1.483	1.636	9.960	0.122	.	0.0079	0.00119808	0.0081	0.0022	0.0029	0	0.0051	0.0132	0.0109	0.0004	0.0059702	923	154602	rs147276945	0.0087	0.0087	0.0089	0.0085	0.0103	0.0086	0.0085	0.0101	0.0101	0.0013	0.0017	0.0195	0.0006	0.0034	0.0012	0.0103	0.0064	0.0003	0.0061	0.0061	0.0063	0.0059	0.0104	0.0058	0.0057	0.0097	0.0095	0.0023	0	0.0020	0.0179	0.0004	0.0022	0	0.0104	0.0047	0.0006	0.002	0.72154	D	0.122	0.35710	T	0.998	0.73220	D	0.907	0.64423	P	0.008091	0.31024	U	0.119263	0.999115	0.46101	D	0.695	0.17993	N	0.34	0.58176	T	-0.47	0.15178	N	0.439	0.47765	-0.8274	0.53467	T	0.131	0.44228	T	10	0.00791198	0.00180	T	.	.	.	0.122	0.33800	.	.	0.202312658747	0.19855	0.75339258385176	0.75286	1.35417442726	0.84148	0.58750295639	0.51141	T	0.043653	0.26569	T	-0.44718	0.01173	T	-0.404089	0.32910	T	0.00975113272520393	0.00128	T	0.777822	0.41150	T	0.11213909	0.26494	0.11305348	0.27281	0.092321746	0.21656	0.11687025	0.28212	-7.211	0.55560	T	.	.	0.212	0.44108	B	.;.;.;.;.	.;.;.;.;.	3.284293	0.45011	22.0	0.99870631301675705	0.94815	0.83379	0.42501	D	AEFBHCI	0.265375	0.38252	N	0.314897223366755	0.56913	3.856865	0.323558041132368	0.56927	3.856949	0.999999599768956	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.42	0.52775	1.442000	0.34656	4.851000	0.45376	0.589000	0.31548	0.669000	0.28339	1.000000	0.68203	0.961000	0.51904	0.0:0.8379:0.0:0.1621	9.960	0.40861	414	0.81871	.;.;.;.;.	.	.	.	.	rs147276945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	950.98	42	chr1	27550705	.	C	T	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.776;DP=918;ExcessHet=0.0000;FS=2.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.161;SOR=0.920	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	34761638	34761638	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G384A:p.W128X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	696696	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.125	38	5.73	2.722	9.807	19.513	.	.	0.0018	0.00119808	0.0021	0.0002	0.0003	0	0.0015	0.0031	0.0011	0.0020	0.0020375	315	154602	rs149110828	0.0021	0.0021	0.0020	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0002	0.0005	0.0006	0	0.0021	0.0007	0.0023	0.0019	0.0022	0.0016	0.0016	0.0016	0.0016	0.0027	0.0014	0.0014	0.0024	0.0022	0.0004	0	0.0010	0.0006	0	0.0014	0	0.0027	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.854	0.85027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.77566	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.123774	0.99583	45	0.99662780554450969	0.78074	0.99170	0.92261	D	AEFBHCI	0.311340	0.41710	N	1.013966651329	0.96159	14.36666	0.897957624106448	0.95482	13.66478	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	8.021000	0.89136	8.642000	0.77898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.513	0.95144	905	0.23532	Connexin, N-terminal	.	.	.	.	.	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	3795.98	37	chr1	34761638	.	G	A	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=967;ExcessHet=0.0000;FS=0.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-2.480e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	34761640	34761640	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G386A:p.W129X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1511	10	1	0	12	0.00395517	.	.	513242	Erythrokeratodermia_variabilis_et_progressiva_2|not_provided|Erythrokeratodermia_variabilis_et_progressiva_1	MONDO:MONDO:0033012,MedGen:C4479618,OMIM:617524|MedGen:C3661900|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.586	37	4.82	1.440	9.694	14.415	.	.	7.7e-05	.	0.0002	9.619e-05	0.0003	0	0	2.999e-05	0	0.0012	0.0001811	28	154602	rs148182439	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0011	0.0010	0	0.0003	0	0	0	0.0014	0.0001	0.0004	0.0013	9.197e-05	9.193e-05	5.138e-05	0.0001	0.0010	5.527e-05	4.364e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226755	0.76415	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.310761	0.99689	46	0.99600453654681542	0.74160	0.98532	0.83788	D	AEFBHCI	0.341075	0.43768	N	0.889484742481834	0.91235	10.782	0.753270357549602	0.86401	8.877397	0.9999999999969	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	4.82	0.61641	9.827000	0.98313	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0715:0.0:0.9285:0.0	14.415	0.66717	905	0.23532	Connexin, N-terminal	.	.	.	.	.	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	1337.98	37	chr1	34761640	.	G	A	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=826;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-3.300e-01;SOR=0.956	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	40292500	40292500	C	G	exonic	ZMPSTE24	.	nonsynonymous SNV	ZMPSTE24:NM_005857:exon10:c.C1259G:p.A420G,	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive	YES	12	1509	1	0	0	1	0.000331236	.	.	864352	Lethal_tight_skin_contracture_syndrome|Mandibuloacral_dysplasia_with_type_B_lipodystrophy|not_provided	MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662|MONDO:MONDO:0012074,MedGen:C1837756,OMIM:608612,Orphanet:2457,Orphanet:90154|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.126	B	0.199	B	0.000	D	1.000	D	2.235	M	-0.9	T	-0.357	T	0.428	T	0.708	3.387	17.43	5.22	2.442	5.630	18.79	0.396	0.0429152660148	7.7e-05	0.000399361	2.473e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.23e-05	5	154602	rs200751802	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0021	2.412e-05	2.158e-05	0.0012	0.0009	0	6.71e-05	0.0008	0	0	0.0021	4.496e-06	8.279e-05	0	3.283e-05	3.281e-05	2.569e-05	4.028e-05	6.538e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	6.538e-05	0.0006	0	0	0	2.94e-05	0	0	0.272	0.15930	T	0.325	0.18846	T	0.126	0.26920	B	0.199	0.36804	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-0.9	0.74896	T	-1.87	0.43717	N	0.523	0.55280	-0.3566	0.73363	T	0.428	0.77075	T	10	0.2204943	0.38748	T	0.042915	0.60713	D	0.396	0.71084	.	.	0.826746230026	0.82510	0.704813676113477	0.70423	0.209053692149	0.23371	0.702443182468	0.67497	T	0.713146	0.91834	D	0.0862395	0.62764	D	-0.0310341	0.68300	D	0.198717176914215	0.20345	T	0.982152	0.93936	D	0.5671789	0.70905	0.42037824	0.66003	0.5671789	0.70906	0.42037824	0.66003	-7.803	0.59720	D	0.4240832665756405	0.51237	0.135	0.29255	B	.	.	3.283636	0.45002	22.0	0.99353245856092864	0.60697	0.97974	0.78556	D	AEFGBI	0.799451	0.72571	D	0.184218131016374	0.50443	3.23411	0.308766090375813	0.56053	3.768349	0.999999999997253	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	4.684000	0.61374	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.79	0.91935	673	0.60677	Peptidase M48	.	.	.	.	.	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	711.98	39	chr1	40292500	.	C	G	711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=779;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.441;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr1	46270754	46270754	C	T	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon10:c.C598T:p.R200W	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	YES	.	.	.	.	.	.	.	.	.	918055	Premature_ovarian_failure|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0005387,MedGen:C0085215|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.000	D	1.000	D	3.635	H	-3.28	D	1.036	D	0.918	D	0.684	3.772	19.15	5.71	2.691	3.212	12.880	0.773	0.272809377827	7.7e-05	.	7.414e-05	0	0	0	0.0002	0.0001	0	6.057e-05	7.12e-05	11	154602	rs150138364	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.415e-05	0.0001	0.0001	0	0	0	0	1.872e-05	0	0.0001	0.0001	4.637e-05	5.257e-05	5.254e-05	6.423e-05	4.035e-05	8.82e-05	2.557e-05	1.83e-05	3.762e-05	2.575e-05	4.825e-05	0	0	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.958	0.70027	D	0.000001	0.84330	D	0.053328	0.999627	0.47904	D	3.88	0.95983	H	-3.28	0.93691	D	-5.01	0.82450	D	0.489	0.52829	1.036	0.97836	D	0.918	0.97281	D	10	0.7820683	0.77937	D	0.272809	0.89943	D	0.773	0.92378	.	.	0.994810710862	0.99475	0.788573252800691	0.78809	0.580584510685	0.53898	0.622770547867	0.56120	T	0.916791	0.98478	D	0.153139	0.69563	D	0.17984	0.81986	D	0.977153539657593	0.71710	D	0.983302	0.94339	D	0.70802915	0.78499	0.7194637	0.83437	0.70802915	0.78501	0.7194637	0.83438	-14.94	0.95710	D	.	.	0.572	0.67698	P	.;.	.;.	5.367416	0.89995	31	0.99920656920694839	0.98721	0.84062	0.43148	D	AEFDBCI	0.515230	0.54227	D	0.794898684560595	0.85786	8.681062	0.698113573318962	0.82235	7.717137	0.915529745981557	0.26485	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	3.326000	0.51749	4.941000	0.46210	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.2703:0.7297:0.0:0.0	12.880	0.57404	107	0.95615	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	66	chr1	46270754	.	C	T	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.805;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	20	0	1	0
chr1	55063543	55063543	C	T	exonic	PCSK9	.	nonsynonymous SNV	PCSK9:NM_174936:exon12:c.C2038T:p.R680W,	Hypercholesterolemia, familial, 3	YES	2	1519	1	0	0	1	0.000329056	.	.	362660	Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_specified|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.001	N	1.000	D	0.895	L	-0.88	T	-0.429	T	0.368	T	0.433	3.148	16.53	-0.168	0.200	0.126	8.612	0.409	0.120340798149	.	0.000998403	0.0004	0	0	0	0.0002	1.581e-05	0	0.0028	0.0003363	52	154602	rs533555352	0.0002	0.0002	9.264e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.99e-05	0	0	0	3.757e-05	0.0002	1.979e-05	0.0002	0.0024	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0014	2.555e-05	1.828e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.001243	0.39669	N	0.091634	0.933328	0.37051	D	2.6	0.76081	M	-0.88	0.74689	T	-2.85	0.60029	D	0.467	0.50327	-0.4295	0.71083	T	0.368	0.72818	T	10	0.022096336	0.00543	T	0.120341	0.80086	D	0.409	0.72099	0.512	0.61000	0.878050049384	0.87686	0.8180297571673621	0.81759	0.850350720984	0.68505	0.284720957279	0.08159	T	0.34605	0.71436	T	-0.286524	0.09987	T	-0.190206	0.55572	T	0.180808547728568	0.19286	T	0.869813	0.57430	D	0.4213081	0.62178	0.27118498	0.53017	0.5411931	0.69464	0.31499523	0.57487	-8.467	0.64211	D	.	.	0.131	0.28086	B	.	.	3.405961	0.47225	22.4	0.99893616107295802	0.96742	0.70951	0.34805	D	AEFBCIJ	0.478398	0.52098	N	-0.0300014766555127	0.40500	2.406222	-0.157668743251856	0.33115	1.890877	0.999593610804802	0.40745	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.38	-0.168	0.12689	0.157000	0.16219	-0.873000	0.07095	0.599000	0.40250	0.841000	0.30301	0.000000	0.08366	0.736000	0.35301	0.3875:0.4816:0.1309:0.0	8.612	0.32973	856	0.34373	.	.	.	.	.	.	Likely benign	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	0.02381	1910.98	127	chr1	55063543	.	C	T	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1337;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-5.270e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr1	56943786	56943786	C	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon8:c.G1144T:p.D382Y	C8 deficiency, type II, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	696809	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign|association	.	.	.	.	.	.	.	.	0.01	D	0.989	D	0.837	P	0.029	N	0.869	N	1.61	L	-1.81	D	-0.068	T	0.537	D	0.315	4.741	26.5	3.66	1.507	2.152	12.856	0.397	0.0767145454667	0.0059	0.00279553	0.0042	0.0017	0.0027	0	0.0044	0.0062	0.0022	0.0008	0.0043337	670	154602	rs139498867	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0070	0.0012	0.0033	0.0085	0	0.0033	0.0028	0.0071	0.0058	0.0006	0.0043	0.0043	0.0049	0.0037	0.0068	0.0041	0.0039	0.0063	0.0061	0.0013	0.0011	0.0039	0.0121	0	0.0023	0	0.0068	0.0033	0.0006	0.005	0.63226	D	0.007	0.69154	D	0.974	0.57829	D	0.66	0.52803	P	0.029202	0.25487	N	0.458353	0.869162	0.28234	N	.	.	.	-1.81	0.83970	D	-1.54	0.37759	N	0.285	0.37509	-0.0678	0.80828	T	0.537	0.82892	D	10	0.008324385	0.00189	T	0.076715	0.72597	D	0.397	0.71163	.	.	0.879829729705	0.87865	0.7958464797366251	0.79537	0.218399245309	0.24377	0.281983196735	0.07770	T	0.060926	0.31519	T	-0.337704	0.05549	T	-0.250758	0.49742	T	0.0415903852167784	0.03980	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.35992	B	.;.;.	.;.;.	2.904105	0.38503	20.7	0.99371876885480581	0.61498	0.51133	0.28825	D	AEFI	0.436931	0.49694	N	0.0171729707789439	0.42635	2.572692	-0.10819151513677	0.35059	2.023858	0.904939928671033	0.26191	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.66	0.41111	2.055000	0.40971	0.003000	0.13321	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.988000	0.63387	0.0:0.9173:0.0:0.0827	12.856	0.57271	869	0.31655	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2297.98	42	chr1	56943786	.	C	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=924;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.195;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1389	20	0	1	0
chr1	58665499	58665499	G	T	exonic	MYSM1	.	nonsynonymous SNV	MYSM1:NM_001085487:exon17:c.C2164A:p.R722S,	.	YES	430	1089	1	0	2	3	0.000458926	0.9244	0.806	1373732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.983	D	0.799	P	0.000	D	0.997	D	1.845	L	1.78	T	-1.091	T	0.108	T	0.801	4.237	22.0	5.09	2.650	4.896	12.718	0.114	0.0157992596723	.	.	0.0002	0.0001	0	0	0	4.535e-05	0	0.0011	0.0001423	22	154602	rs200350305	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0	0	0	0	0	8.554e-05	3.374e-05	0.0012	4.601e-05	4.597e-05	5.141e-05	4.035e-05	0.0004	2.11e-05	1.527e-05	7.287e-05	3.028e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.983	0.60381	D	0.799	0.58136	P	0.000035	0.55875	D	0.114874	0.997177	0.43684	D	1.59	0.40313	L	1.78	0.25678	T	-2.91	0.60982	D	0.728	0.72925	-1.0907	0.05416	T	0.108	0.39075	T	9	0.29636383	0.47201	T	0.015799	0.36731	T	0.114	0.32008	0.409	0.44395	0.771699156952	0.76960	0.6493140523794516	0.64867	0.409492726219	0.41761	0.444501280785	0.31192	T	0.01742	0.14217	T	-0.221935	0.17730	T	-0.147919	0.59427	T	0.365669786930084	0.27629	T	0.888711	0.61924	D	0.4104537	0.61449	0.38935775	0.63757	0.4104537	0.61450	0.38935775	0.63757	-9.836	0.72924	D	.	.	0.863	0.80791	P	.;.	.;.	5.146092	0.86174	28.8	0.99787807451466648	0.87396	0.87343	0.46853	D	AEFBI	0.420644	0.48738	N	0.633167493886888	0.75284	6.278742	0.626861805392761	0.76896	6.576466	0.99999064165445	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.563494	0.21769	0	.	.	5.09	5.09	0.68647	5.044000	0.64020	11.904000	0.99435	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.8357:0.1643	12.718	0.56496	866	0.32446	.;.	.	.	.	.	.	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	0	0	0.02381	1336.98	33	chr1	58665499	.	G	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=795;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.370;SOR=0.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	62598774	62598774	C	T	exonic	ANGPTL3	.	stopgain	ANGPTL3:NM_014495:exon2:c.C574T:p.Q192X,	Hypobetalipoproteinemia, familial, 2, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.664	25.7	5.5	2.748	3.708	14.245	.	.	7.7e-05	.	8.372e-06	0	0	0	0	1.522e-05	0	0	3.84e-05	1	26028	rs370511181	6.186e-06	8.209e-06	4.106e-06	8.284e-06	7.232e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	0	0	7.232e-06	1.664e-05	0	6.577e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.058134	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.757	0.75559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550057	0.95802	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.351685	0.97462	37	0.99779285149097274	0.86606	0.90274	0.51321	D	AEFBI	0.373508	0.45875	N	0.973540994581112	0.94872	13.11087	0.820994345531891	0.91215	10.77459	0.995171300382029	0.33988	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	4.328000	0.59040	7.556000	0.60375	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.1491:0.8509:0.0:0.0	14.245	0.65530	802	0.44336	.	.	.	.	.	.	Pathogenic	1	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	875.98	33	chr1	62598774	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.067;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1148	20	0	1	0
chr1	63654374	63654374	C	T	exonic	PGM1	.	stopgain	PGM1:NM_001172818:exon10:c.C1561T:p.R521X	Congenital disorder of glycosylation, type It, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	48371	PGM1-congenital_disorder_of_glycosylation	MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.147	37	4.51	1.379	1.134	13.309	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs397515423	1.163e-05	1.163e-05	1.362e-05	9.627e-06	2.519e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	2.519e-05	0	0	1.259e-05	0	2.319e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.958	0.96758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498631	0.94255	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	10.206197	0.99633	46	0.99741728891944859	0.83555	0.91770	0.54226	D	AEFBI	0.474365	0.51865	N	0.551564909029067	0.70178	5.463448	0.378581841029541	0.60247	4.210113	0.999975670858699	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.45	4.51	0.54589	1.188000	0.31711	5.224000	0.48009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.2968:0.7032:0.0:0.0	13.309	0.59807	901	0.24189	Alpha-D-phosphohexomutase, C-terminal;.;.;.	.	.	.	.	.	Pathogenic	1	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	2067.98	33	chr1	63654374	.	C	T	2067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.950e-01;DP=855;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.215e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	20	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	0	1444	76	2	0	80	0.0269542	.	.	22927	Cone-rod_dystrophy_3|Retinitis_pigmentosa_19|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|not_provided|ABCA4-related_disorder|Inborn_genetic_diseases|Age_related_macular_degeneration_2|Retinitis_pigmentosa|See_cases|Retinal_dystrophy|Stargardt_disease|Macular_dystrophy|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO|not_specified	MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C3661900|MedGen:CN239167|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	-0.545	N	-3.22	D	0.718	D	0.700	D	0.983	4.439	23.6	5.35	2.941	5.668	19.614	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2958.08	33	chr1	94008251	.	C	T	2958.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=1.081	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	1	0	0
chr1	97699507	97699507	G	C	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon6:c.C524G:p.S175W,	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	YES	0	1520	1	1	0	3	0.000985869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.9	P	0.473	P	0.005	N	1.000	D	1.795	L	-2.99	D	0.119	D	0.605	D	0.341	2.980	15.93	2.6	0.288	2.327	11.472	0.408	0.131913296895	.	0.000199681	1.649e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs371792178	4.106e-06	4.104e-06	2.723e-06	5.502e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	1.315e-05	1.312e-05	1.286e-05	1.345e-05	6.561e-05	2.18e-06	8.2e-07	.	.	0	0	6.561e-05	0	0	0	0	1.471e-05	0	0	0.009	0.57480	D	0.01	0.65728	D	0.9	0.49598	P	0.473	0.46845	P	0.005328	0.32892	N	0.325610	0.999999	0.81001	D	0.345	0.11182	N	-2.99	0.92108	D	-3.44	0.67477	D	0.444	0.48227	0.119	0.84522	D	0.605	0.85979	D	10	0.2439948	0.41624	T	0.131913	0.81420	D	0.408	0.72022	0.375	0.38830	0.918466563785	0.91764	0.5643580757601343	0.56362	0.236595121001	0.26196	0.434350669384	0.29804	T	0.517774	0.83078	D	0.0220098	0.54652	T	-0.142515	0.59899	T	0.599578145576132	0.36384	D	0.962504	0.85970	D	0.09641819	0.22709	0.07599471	0.16786	0.09641819	0.22709	0.07599471	0.16785	-13.975	0.92974	D	0.3979155289464447	0.49016	0.182	0.39562	B	.	.	2.546568	0.32951	19.20	0.99026773464545537	0.50699	0.87759	0.47408	D	AEFBI	0.563677	0.57077	D	-0.000134985729398435	0.41848	2.510633	-0.0136762523610614	0.39095	2.312979	4.08599156952359E-4	0.06860	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.5	2.6	0.30173	2.327000	0.43517	1.884000	0.29472	-0.161000	0.11593	0.978000	0.35038	0.949000	0.28973	0.927000	0.46353	0.1992:0.0:0.8008:0.0	11.472	0.49522	878	0.29785	.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1016.98	35	chr1	97699507	.	G	C	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.750e-01;DP=750;ExcessHet=0.0000;FS=1.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-1.400e-02;SOR=0.560	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530	6	0	15	0
chr1	99884427	99884427	C	T	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.C2522T:p.S841F	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	4	1493	24	1	0	26	0.00863214	.	.	250055	AGL-related_disorder|Inborn_genetic_diseases|not_specified|Glycogen_storage_disease_type_III|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.377	B	0.269	B	0.000	D	1.000	D	0.805	L	1.48	T	-1.080	T	0.049	T	0.279	3.554	18.12	5.8	2.745	5.609	20.043	0.084	0.0353063885639	0.0025	0.00199681	0.0029	0.0003	0.0015	0.0001	0.0002	0.0040	0.0056	0.0031	0.0025679	397	154602	rs150441555	0.0020	0.0020	0.0019	0.0022	0.0186	0.0020	0.0019	0.0157	0.0147	0.0012	0.0020	0.0150	2.524e-05	0.0003	0.0186	0.0016	0.0036	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0028	0.0026	0.0003	0	0.0036	0.0141	0	0.0004	0.0340	0.0027	0.0066	0.0035	0.031	0.46513	D	0.051	0.50809	T	0.26	0.34270	B	0.139	0.39840	B	0.000001	0.62929	D	0.098941	0.999891	0.50595	D	1.15	0.29295	L	1.48	0.31731	T	-2.21	0.49684	N	0.276	0.33578	-1.0804	0.07272	T	0.049	0.20750	T	10	0.010740131	0.00238	T	0.035306	0.56258	D	0.084	0.24469	.	.	0.528160237705	0.52464	0.6871515394653197	0.68655	0.0596318990953	0.06628	0.462177336216	0.33609	T	0.10719	0.41917	T	-0.449639	0.01135	T	-0.422017	0.30845	T	0.0303424716408463	0.02043	T	0.974503	0.90930	D	0.46422943	0.64934	0.5469604	0.73811	0.5126768	0.67836	0.5123905	0.71824	-7.352	0.57674	T	0.30378784481655136	0.40131	0.209	0.50287	B	.;.;.;.;.	.;.;.;.;.	4.064347	0.60343	24.2	0.99640421921869393	0.76633	0.99209	0.92840	D	AEFBI	0.640365	0.61808	D	0.242698005705764	0.53278	3.497486	0.408699092796405	0.62105	4.420588	0.999999840276989	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	5.685000	0.67865	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.043	0.97596	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1981.98	45	chr1	99884427	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.680e-01;DP=964;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-8.400e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	100216031	100216031	A	G	exonic	DBT	.	nonsynonymous SNV	DBT:NM_001918:exon6:c.T724C:p.S242P,	Maple syrup urine disease, type II, Autosomal recessive	YES	0	1500	20	2	0	24	0.00793651	.	.	99913	not_provided|not_specified|Maple_syrup_urine_disease|Maple_syrup_urine_disease_type_1A	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.003	B	0.233	N	1.000	N	0.55	N	1.5	T	-0.948	T	0.015	T	0.064	0.969	8.956	0.236	-0.140	1.370	8.600	0.026	.	0.0072	0.00339457	0.0096	0.0012	0.0039	0.0001	0.0085	0.0148	0.0154	0.0028	0.0092302	1427	154602	rs146249007	0.0096	0.0096	0.0095	0.0097	0.0110	0.0094	0.0094	0.0108	0.0108	0.0013	0.0051	0.0078	5.041e-05	0.0089	0.0087	0.0110	0.0087	0.0030	0.0084	0.0084	0.0088	0.0081	0.0134	0.0080	0.0079	0.0126	0.0123	0.0018	0	0.0100	0.0075	0	0.0080	0.0034	0.0134	0.0099	0.0023	0.327	0.16466	T	0.261	0.22962	T	.	.	.	.	.	.	0.233402	0.15869	N	0.655427	0.999999	0.08975	N	.	.	.	1.5	0.31987	T	0.0	0.08495	N	0.252	0.28498	-0.9484	0.41245	T	0.015	0.05994	T	10	0.0040974617	0.00080	T	.	.	.	0.026	0.05648	.	.	0.18274738541	0.17906	0.5375995511524111	0.53684	0.534135777531	0.50832	0.360091269016	0.19399	T	.	.	.	-0.632211	0.00093	T	-0.664648	0.07957	T	0.000309917408977404	0.00003	T	0.59724	0.22223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.01011	B	.;.	.;.	0.930296	0.13055	9.559	0.84317567664795934	0.15221	0.34859	0.25166	N	AEFDBI	0.088245	0.17890	N	-1.03815179980117	0.07821	0.3646864	-0.990087816733431	0.10007	0.5013103	0.00160025830155342	0.08681	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.66	0.236	0.14733	0.899000	0.28049	3.854000	0.40103	-0.103000	0.15852	0.456000	0.26612	0.999000	0.35428	0.019000	0.11356	0.3275:0.4528:0.0:0.2197	8.600	0.32902	527	0.73864	.;.	SASS6|AGL|SASS6	Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	SLC35A3|SLC35A3|SASS6|SLC35A3|SLC35A3|SLC35A3|SLC35A3	Adipose_Subcutaneous|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs146249007	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	767.98	33	chr1	100216031	.	A	G	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.933e+00;DP=754;ExcessHet=0.0000;FS=3.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.611;SOR=0.309	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q	Deafness, autosomal recessive 105, Autosomal recessive	YES	438	1058	26	0	0	26	0.0121382	.	.	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.064	B	0.011	B	0.013	N	1.000	D	0.52	N	3.18	T	-1.008	T	0.006	T	0.336	0.577	7.114	5.77	2.729	2.551	10.909	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.07143	3486.68	44	chr1	100484348	.	G	A	3486.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.06;DP=975;ExcessHet=0.3300;FS=1.991;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.214;SOR=0.820	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	3	0
chr1	109573739	109573739	G	T	exonic	GNAI3	.	nonsynonymous SNV	GNAI3:NM_006496:exon2:c.G121T:p.A41S,	Auriculocondylar syndrome 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.992	D	0.000	D	1.000	D	1.965	M	-2.34	D	0.577	D	0.732	D	0.677	5.254	33	4.95	2.567	9.392	17.974	0.776	0.202459004402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.15	0.32461	T	0.996	0.68779	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	-2.34	0.87989	D	-2.1	0.47852	N	0.589	0.60918	0.577	0.91590	D	0.732	0.90815	D	10	0.8665968	0.85906	D	0.202459	0.86822	D	0.776	0.92501	0.822	0.93461	0.964682072619	0.96430	0.6749589960563338	0.67433	1.48735837486	0.86818	0.856574594975	0.90603	D	0.812649	0.95334	D	0.25127	0.78720	D	0.123156	0.78444	D	0.971368908882141	0.69290	D	0.832517	0.50110	T	0.91167796	0.92452	0.8071175	0.88717	0.91167796	0.92453	0.8071175	0.88718	-8.884	0.66946	D	0.524568101234359	0.59632	0.536	0.66186	A	.	.	4.614239	0.73203	26.0	0.99750483587024696	0.84228	0.99504	0.96829	D	AEFBI	0.930639	0.91824	D	0.809714039946493	0.86710	8.97362	0.786678649761017	0.88852	9.740486	0.999999999999999	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	4.95	4.95	0.64894	9.735000	0.98037	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.974	0.89044	819	0.41190	.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	34	chr1	109573739	.	G	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=0.820;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q,	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.615	H	-1.53	D	0.730	D	0.766	D	0.882	6.034	37	5.83	2.769	9.728	18.682	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	45	chr1	119727080	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=861;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.25;SOR=0.832	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	20	0	1	0
chr1	151289853	151289853	C	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon6:c.C2810A:p.P937H	Paget disease of bone 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	789841	not_provided|Paget_disease_of_bone_6	MedGen:C3661900|MONDO:MONDO:0014792,MedGen:C4085250,OMIM:616833	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.975	D	0.742	P	0.003	N	0.993	D	0.695	N	5.88	T	-0.436	T	0.002	T	0.234	1.713	11.69	2.15	0.301	2.128	14.254	0.075	0.0168101362587	.	.	0.0004	0	0.0013	0.0008	0	0.0005	0	0.0004	0.0001488	23	154602	rs148402804	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	3.097e-05	0.0003	0	0.0001	3.992e-05	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	9.618e-05	0	0.0002	0.0003	0.0002	9.414e-05	0	0.0003	0.0005	0.0004	0.002	0.72154	D	0.047	0.48855	D	0.898	0.49442	P	0.557	0.49454	P	0.003447	0.34930	N	0.000000	0.992963	0.41795	D	0.695	0.17993	N	5.49	0.00930	T	0.02	0.06739	N	0.294	0.38541	-0.4361	0.70860	T	0.002	0.00615	T	10	0.044634283	0.03444	T	0.01681	0.38239	T	0.123	0.34020	.	.	0.0934897674506	0.08844	0.4975312941938317	0.49674	0.710227036587	0.61673	0.454614341259	0.32575	T	0.021003	0.16432	T	-0.429244	0.01498	T	-0.5382	0.18474	T	0.0872432457205677	0.10887	T	0.582242	0.21111	T	0.15824525	0.35612	0.11077933	0.26714	0.15824525	0.35611	0.11077933	0.26714	-6.722	0.51976	T	.	.	0.098	0.23290	B	.;.	.;.	1.548221	0.19848	14.47	0.97185248371855315	0.32740	0.92871	0.56751	D	AEFDBCI	0.207642	0.33380	N	-0.429303228378819	0.24446	1.320078	-0.436306277361276	0.23940	1.308238	0.999447711207512	0.39736	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.16	2.15	0.26590	1.815000	0.38620	1.610000	0.27630	-0.273000	0.06669	0.780000	0.29473	0.958000	0.29226	0.949000	0.49496	0.0:0.5693:0.4307:0.0	14.254	0.65588	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2177.98	37	chr1	151289853	.	C	A	2177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=849;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.023;SOR=0.583	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	20	0	1	0
chr1	151408482	151408482	A	G	exonic	POGZ	.	nonsynonymous SNV	POGZ:NM_145796:exon12:c.T1876C:p.S626P	White-Sutton syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2207559	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.003	B	0.045	N	0.571	N	-0.345	N	5.85	T	-0.991	T	0.012	T	0.42	1.692	11.62	3.26	1.850	1.772	7.148	0.109	0.00272430835898	.	.	1.657e-05	0	8.651e-05	0	0	1.506e-05	0	0	1.29e-05	2	154602	rs763617685	1.803e-05	1.779e-05	1.518e-05	2.091e-05	3.627e-05	1.255e-05	1.066e-05	1.301e-05	1.111e-05	0	2.714e-05	0	0	0	0	1.987e-05	0	3.627e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.301	0.20381	T	0.194	0.28210	T	0.0	0.02946	B	0.002	0.08700	B	0.045185	0.23562	N	0.369814	0.710214	0.31181	N	-0.205	0.04094	N	5.82	0.32238	T	-0.36	0.17417	N	0.374	0.51048	-0.9905	0.32475	T	0.012	0.04558	T	10	0.04950154	0.04550	T	0.002724	0.05608	T	0.109	0.30843	0.191	0.10171	0.491561328709	0.48789	0.5274958808770265	0.52673	0.910079391451	0.71022	0.428018271923	0.28938	T	0.020894	0.16365	T	-0.226188	0.17155	T	-0.452621	0.27407	T	0.0722014821200751	0.08957	T	0.792121	0.43364	T	0.05940633	0.12068	0.09387279	0.22194	0.05940633	0.12068	0.09387279	0.22193	-3.491	0.16741	T	0.14844843224063575	0.17283	0.070	0.07318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777035	0.36468	20.3	0.98937438882391671	0.48864	0.44941	0.27429	N	AEFBI	0.061117	0.11662	N	-0.436688613050537	0.24192	1.304624	-0.235541369631629	0.30272	1.703065	0.0263396405864073	0.13706	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.26	0.36471	1.002000	0.29397	4.837000	0.45250	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.979000	0.57723	0.8807:0.0:0.1193:0.0	7.148	0.24770	194	0.92479	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3202.98	41	chr1	151408482	.	A	G	3202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=1068;ExcessHet=0.0000;FS=1.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-2.970e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1453	20	0	1	0
chr1	151612460	151612460	G	C	exonic	SNX27	.	nonsynonymous SNV	SNX27:NM_001330723:exon1:c.G259C:p.G87R	.	YES	404	1117	1	0	0	1	0.000447427	.	.	1450596	Severe_myoclonic_epilepsy_in_infancy	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.679	P	0.333	B	0.000	N	1.000	D	2.805	M	1.02	T	-0.937	T	0.100	T	0.472	3.975	20.3	3.77	1.795	8.255	13.416	0.248	0.70026490047	.	.	2.705e-05	0	0	0	0	0	0	0.0004	1.29e-05	2	154602	rs750944911	8.647e-06	1.163e-05	4.6e-06	1.291e-05	8.469e-05	4.64e-06	3.39e-06	3.273e-05	2.095e-05	0	0	0	0	0	0	4.891e-06	1.92e-05	8.469e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.278	0.17410	T	0.294	0.20745	T	0.679	0.41373	P	0.333	0.42166	B	0.000029	0.55875	N	0.071142	1	0.81001	D	2.46	0.71463	M	1.02	0.40749	T	-2.86	0.60188	D	0.531	0.56403	-0.9366	0.43149	T	0.100	0.37239	T	10	0.72631824	0.73997	D	0.700265	0.97546	D	0.248	0.55615	0.829	0.93915	0.102598925029	0.09809	0.7924830973634446	0.79201	1.72089044569	0.90581	0.956874251366	0.99872	D	0.267037	0.63904	T	-0.0438438	0.45377	T	-0.300755	0.44646	T	0.978244483470917	0.72232	D	0.965203	0.87805	D	0.6621882	0.76016	0.56241	0.74678	0.6621882	0.76017	0.56241	0.74679	-8.63	0.65287	D	.	.	0.647	0.73103	P	.;.	.;.	5.512518	0.91698	32	0.99661123100967308	0.77947	0.81267	0.40707	D	AEFDGBHCI	0.882633	0.81090	D	0.424984563218663	0.62801	4.501994	0.41864796540809	0.62726	4.493076	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.77	3.77	0.42499	6.739000	0.74629	10.948000	0.84382	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.416	0.60414	283	0.88803	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	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	0.02381	1336.98	35	chr1	151612460	.	G	C	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=847;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.559;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1018	20	0	1	0
chr1	152306323	152306323	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G8563C:p.G2855R,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	2360180	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.87	P	0.753	P	.	.	1.000	N	1.6	L	3.17	T	-0.985	T	0.014	T	0.206	0.981	9.006	1.03	-0.016	1.059	5.356	0.103	0.00746531922885	0.0002	0.000998403	0.0005	0	0.0004	0	0	0.0004	0.0022	0.0015	0.0004075	63	154602	rs373833125	0.0002	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	3.335e-05	0.0003	0	0	0	0.0023	0.0002	0.0006	0.0009	0.0003	0.0004	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0004	2.934e-05	0	0.0009	0	0.0002	0	0.0034	0.0003	0.0010	0.0010	0.041	0.41915	D	.	.	.	0.87	0.47827	P	0.753	0.56122	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	3.17	0.07599	T	-0.24	0.10833	N	0.137	0.13484	-0.9845	0.33951	T	0.014	0.05369	T	9	0.010484487	0.00233	T	0.007465	0.19792	T	0.103	0.29403	0.637	0.77361	0.250579442822	0.24687	0.03192658727628576	0.03140	.	.	0.28669667244	0.08443	T	0.009238	0.08422	T	-0.554937	0.00272	T	-0.638727	0.09762	T	0.0435213031315912	0.04333	T	0.40156	0.10241	T	0.07462287	0.16760	0.084656484	0.19490	0.07462287	0.16759	0.084656484	0.19489	-7.013	0.54129	T	.	.	0.274	0.50790	B	.	.	0.578062	0.09464	6.244	0.92545119571005874	0.21993	0.03607	0.08838	N	AEFI	0.042527	0.06610	N	-0.520610287970705	0.21414	1.136289	-0.746298472828468	0.15813	0.8335285	1.36427774763999E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.02	1.03	0.19161	-0.040000	0.12056	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7013:0.0:0.2987	5.356	0.15365	561	0.71236	.	.	.	.	.	.	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	0	0	0.02381	5812.98	73	chr1	152306323	.	C	G	5812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=11882;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-2.260e-01;QD=6.05;ReadPosRankSum=0.509;SOR=0.800	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.001	B	0.013	B	.	.	1.000	N	-0.355	N	3.75	T	-0.970	T	0.001	T	0.056	-0.283	2.647	-5.35	-4.387	-3.551	6.785	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.98	67	chr1	152308195	.	A	C	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=5276;ExcessHet=0.0000;FS=9.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.76;MQRankSum=-1.912e+01;QD=1.91;ReadPosRankSum=-7.128e+00;SOR=1.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800	20	0	1	0
chr1	152310725	152310725	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4161A:p.H1387Q,	Ichthyosis vulgaris, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.889	P	0.424	B	.	.	1.000	N	1.52	L	3.78	T	-0.978	T	0.004	T	0.069	1.220	9.949	-3.39	-0.402	-3.275	1.060	0.038	0.00123307675472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	6.806e-06	9.625e-06	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	7.194e-06	3.311e-05	0	6.572e-06	6.562e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.013	0.53900	D	.	.	.	0.889	0.48869	P	0.424	0.45210	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	3.78	0.03836	T	0.04	0.06488	N	0.104	0.08786	-0.9780	0.35458	T	0.004	0.01159	T	9	0.10071981	0.18360	T	0.001233	0.01633	T	0.038	0.09825	0.327	0.31034	0.112648838833	0.10856	0.006649674495435494	0.00632	.	.	0.313453733921	0.12429	T	0.007323	0.06733	T	-0.36889	0.03650	T	-0.767662	0.02846	T	0.254253277179325	0.23062	T	0.377062	0.09013	T	0.07316139	0.16327	0.07220907	0.15551	0.07316139	0.16327	0.07220907	0.15551	-7.324	0.56366	T	.	.	0.242	0.47632	B	.	.	-0.012870	0.04196	1.019	0.75699281970958421	0.11176	0.00743	0.03099	N	AEFBI	0.045074	0.07329	N	-1.0417078442958	0.07751	0.3611162	-1.24976433418337	0.05135	0.243931	5.68992040908351E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.01	-3.39	0.04563	-4.592000	0.00243	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3914:0.1507:0.3043:0.1535	1.060	0.01498	587	0.69154	.	.	.	.	.	.	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	0	0	0.02381	7391.98	40	chr1	152310725	.	G	T	7391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.992e+00;DP=5541;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.581;QD=12.42;ReadPosRankSum=0.212;SOR=0.674	GT:AD:DP:GQ:PL	0/0:409,0:409:99:0,120,1800	20	0	1	0
chr1	154984014	154984014	C	T	exonic	FLAD1	.	nonsynonymous SNV	FLAD1:NM_025207:exon1:c.C320T:p.P107L	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, Autosomal recessive	YES	428	1092	2	0	0	2	0.000914913	.	.	1896109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.251	N	1.000	N	0.805	L	.	.	-1.009	T	0.028	T	0.123	2.089	12.94	2.38	0.184	0.238	6.518	0.016	0.00371213809853	.	.	6.764e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs773925274	4.261e-05	4.104e-05	4.03e-05	4.502e-05	0.0013	3.343e-05	3.057e-05	0.0006	0.0004	3.318e-05	0	0	0	0	0.0013	4.237e-05	5.372e-05	2.838e-05	3.946e-05	3.941e-05	2.571e-05	5.386e-05	6.553e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.414e-05	0	6.553e-05	0	0	0	0	5.882e-05	0	0	0.024	0.47745	D	0.03	0.54159	D	0.001	0.07471	B	0.001	0.04355	B	0.251360	0.15503	N	0.612212	0.999996	0.20721	N	0.805	0.20218	L	.	.	.	-0.86	0.23372	N	0.082	0.24010	-1.0094	0.27105	T	0.028	0.11882	T	9	0.062817216	0.08091	T	0.003712	0.08589	T	0.016	0.02506	0.287	0.24601	0.273070737957	0.26916	0.2675779612000002	0.26670	0.221553845957	0.24691	0.356646716595	0.18896	T	0.018814	0.47004	T	-0.403192	0.02206	T	-0.601599	0.12678	T	0.118537467076708	0.14287	T	0.727427	0.34191	T	0.043680493	0.06851	0.05574188	0.09833	0.049635418	0.08842	0.0610476	0.11723	-4.91	0.35847	T	0.09742854458586857	0.06854	0.093	0.13923	B	.;.;.;.	.;.;.;.	2.303983	0.29484	18.14	0.92498191697090171	0.21934	0.07520	0.13534	N	AEFDGBHCI	0.105478	0.21074	N	-0.678909444457284	0.16624	0.8486005	-0.611741658396257	0.19191	1.028579	0.999999812695082	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.63	2.38	0.28415	-0.011000	0.12659	0.685000	0.20714	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.767000	0.36405	0.4407:0.4691:0.0:0.0902	6.518	0.21455	380	0.83728	.;.;.;.	.	.	.	.	.	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	1576.98	34	chr1	154984014	.	C	T	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.280e-01;DP=813;ExcessHet=0.0000;FS=1.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.617;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	20	0	1	0
chr1	156879124	156879124	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon14:c.C1790T:p.S597F	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.889	P	0.595	P	0.030	N	1.000	D	2.305	M	-1.72	D	0.194	D	0.528	D	0.7	3.171	16.61	4.37	2.432	5.854	15.985	0.660	0.138787162896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.012	0.65728	D	0.474	0.39849	P	0.168	0.35187	B	0.029785	0.25403	N	0.285942	0.999926	0.54805	D	2.235	0.63160	M	-1.72	0.83241	D	-3.77	0.71397	D	0.494	0.53269	0.194	0.85798	D	0.528	0.82438	D	10	0.69264996	0.71950	D	0.138787	0.82127	D	0.660	0.87283	0.507	0.60232	0.928708275997	0.92798	0.5078569948578682	0.50707	0.409882801041	0.41793	0.778451681137	0.78694	T	0.833486	0.96047	D	0.193112	0.73251	D	0.039616	0.72902	D	0.976203441619873	0.71274	D	0.956404	0.83469	D	0.69206756	0.77623	0.6891424	0.81712	0.69206756	0.77625	0.6891424	0.81713	-10.685	0.79680	D	0.29649916867644444	0.39353	0.204	0.51583	B	.;.;.;.	.;.;.;.	4.367917	0.67223	25.1	0.9953438547818988	0.70087	0.97773	0.77029	D	AEFGBI	0.822772	0.74302	D	0.400031434635373	0.61425	4.343354	0.435520173042434	0.63791	4.620206	0.999995082014523	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	4.37	4.37	0.51830	6.096000	0.71091	7.490000	0.59357	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	15.985	0.79939	537	0.73184	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	76	chr1	156879124	.	C	T	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=890;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.53;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	20	0	1	0
chr1	156881533	156881533	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2264A:p.R755Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1513	8	1	0	10	0.00329381	.	.	1540658	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.004	B	0.012	N	0.929	D	-0.035	N	-1.59	D	-0.952	T	0.135	T	0.372	2.609	14.68	4.11	1.312	0.352	6.933	0.210	0.00686803336614	.	0.000199681	0.0003	0.0002	0	0	0	3.608e-05	0	0.0013	0.0001488	23	154602	rs201891311	0.0001	0.0002	8.079e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0	0	0	0	0.0009	2.709e-05	0.0002	0.0019	0.0001	0.0001	3.853e-05	0.0002	0.0027	8.16e-05	6.717e-05	0.0016	0.0013	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0027	0.228	0.18434	T	0.161	0.34359	T	0.0	0.07471	B	0.001	0.04355	B	0.012257	0.29238	N	0.238545	0.683508	0.36925	D	0.905	0.23240	L	-1.59	0.82076	D	-0.4	0.13805	N	0.202	0.22357	-0.9518	0.40660	T	0.135	0.44971	T	10	0.023714691	0.00629	T	0.006868	0.18177	T	0.210	0.50028	.	.	0.849743943647	0.84829	0.19415647910783967	0.19333	0.28510221178	0.30919	0.453783094883	0.32461	T	0.490972	0.81554	T	-0.31998	0.06898	T	-0.262484	0.48575	T	0.0603199895046071	0.07220	T	0.892211	0.62852	D	0.15947026	0.35821	0.076693565	0.17011	0.15947026	0.35821	0.076693565	0.17011	-6.509	0.51584	T	0.03449484710576937	0.00169	0.061	0.01179	B	.;.;.;.	.;.;.;.	2.901991	0.38468	20.7	0.9975512330473294	0.84615	0.69825	0.34342	D	AEFBI	0.221864	0.34643	N	-0.40528812998552	0.25284	1.371341	-0.195597362527002	0.31697	1.79633	0.767584462925001	0.23615	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.04	4.11	0.47350	0.095000	0.14966	4.774000	0.44793	0.676000	0.76740	0.934000	0.32416	1.000000	0.68203	0.998000	0.85391	0.2606:0.0:0.7394:0.0	6.933	0.23628	530	0.73653	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic 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	1041.98	33	chr1	156881533	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=796;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.600e-02;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1487	35	0	0	35	0.0116318	.	.	237215	NTRK1-related_disorder|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified|not_provided	.|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.873	P	0.239	B	0.001	D	1.000	N	0.56	N	-1.6	D	-0.934	T	0.138	T	0.488	0.659	7.532	4.1	1.341	0.822	8.581	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1473.98	33	chr1	156881590	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=3.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-9.410e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	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
chr1	169536616	169536616	G	A	exonic	F5	.	stopgain	F5:NM_000130:exon14:c.C4861T:p.R1621X,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	3067045	Congenital_factor_V_deficiency	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.960	46	4.06	1.166	4.141	14.587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.788e-06	5.448e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.997e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000018	0.62929	D	0.072732	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.842	0.83781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.658823	0.97848	38	0.99837046239837035	0.91800	0.95560	0.65208	D	AEFBI	0.150227	0.27447	N	0.715986483944103	0.80680	7.348353	0.564177340994092	0.72389	5.802195	0.942663585797136	0.27532	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.0	4.06	0.46572	4.172000	0.58036	7.059000	0.57399	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8482:0.1518	14.587	0.67929	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	923.98	35	chr1	169536616	.	G	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=793;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.263;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr1	183207997	183207997	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon2:c.G196A:p.E66K	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1506	15	0	0	15	0.0049554	.	.	192407	Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa,_non-Herlitz_type|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.97	H	-0.14	T	0.466	D	0.582	D	0.732	4.182	21.7	3.89	1.011	7.351	14.87	0.504	0.0695001038102	0.0012	0.000399361	0.0013	9.61e-05	0.0008	0	0.0002	0.0016	0	0.0025	0.0012484	193	154602	rs146325169	0.0016	0.0016	0.0015	0.0016	0.0035	0.0015	0.0015	0.0024	0.0023	0.0003	0.0011	0.0011	0	0.0002	0.0035	0.0017	0.0012	0.0026	0.0012	0.0012	0.0011	0.0012	0.0025	0.0010	0.0010	0.0019	0.0016	0.0004	0	0.0025	0.0006	0	0	0.0034	0.0017	0.0014	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	4.475	0.98900	H	-0.14	0.65006	T	-3.85	0.72932	D	0.721	0.72299	0.466	0.90067	D	0.582	0.84968	D	10	0.13219815	0.25161	T	0.070	0.70747	D	0.504	0.78600	.	.	0.823513027696	0.82184	0.8431487161829182	0.84275	0.533294624211	0.50767	0.529933571815	0.43025	T	0.458358	0.79637	T	-0.108989	0.34934	T	0.0660536	0.74647	D	0.198354672269882	0.20325	T	0.948505	0.80271	D	0.7870252	0.83088	0.76312983	0.86006	0.7685657	0.81964	0.70156354	0.82415	-13.147	0.89959	D	0.6873950157316275	0.76465	0.371	0.57896	A	.;.	.;.	4.970492	0.82252	27.7	0.99932501957676223	0.99439	0.97344	0.74157	D	AEFBI	0.911594	0.87107	D	0.760789460467392	0.83606	8.061597	0.601091658765851	0.75021	6.237097	0.999998505535972	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.81	3.89	0.44098	7.665000	0.82824	9.810000	0.81742	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.1442:0.8558:0.0	14.87	0.70087	482	0.77288	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1931.98	35	chr1	183207997	.	G	A	1931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1085;ExcessHet=0.0000;FS=2.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=2.83;SOR=0.762	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1387	20	0	1	0
chr1	183215528	183215528	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon3:c.G344A:p.R115Q	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	277786	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.2	B	0.041	B	0.008	N	1.000	D	1.535	L	0.06	T	-0.964	T	0.082	T	0.172	2.896	15.65	2.99	1.038	2.045	5.825	0.045	.	0.0062	0.00399361	0.0097	0.0011	0.0064	0	0.0398	0.0098	0.0198	0.0092	0.0091267	1411	154602	rs17481405	0.0099	0.0099	0.0098	0.0100	0.0116	0.0098	0.0097	0.0095	0.0093	0.0012	0.0064	0.0025	5.038e-05	0.0390	0.0116	0.0094	0.0099	0.0101	0.0089	0.0089	0.0082	0.0095	0.0095	0.0085	0.0083	0.0089	0.0087	0.0012	0.0811	0.0052	0.0023	0	0.0406	0.0068	0.0095	0.0085	0.0081	0.038	0.42783	D	0.232	0.24987	T	0.038	0.29645	B	0.016	0.23986	B	0.007652	0.31274	N	0.220313	0.999985	0.54805	D	0.96	0.23930	L	0.06	0.61798	T	-3.22	0.68532	D	0.176	0.23506	-0.9639	0.38428	T	0.082	0.32353	T	10	0.011888444	0.00258	T	.	.	.	0.045	0.12272	.	.	.	.	0.6010716398682795	0.60038	0.157538799159	0.17790	0.250994592905	0.03873	T	0.251805	0.62211	T	-0.450739	0.01118	T	-0.41227	0.31963	T	0.0173335099455068	0.00473	T	0.956004	0.83260	D	0.16999279	0.37548	0.16556077	0.38294	0.17766419	0.38745	0.14288422	0.33976	-4.465	0.30428	T	0.19664150434230024	0.25980	0.075	0.05668	B	.;.	.;.	2.385758	0.30632	18.50	0.99858570715821038	0.93729	0.86534	0.45834	D	AEFDBI	0.174293	0.30142	N	-0.170801131779992	0.34354	1.959851	-0.0690656621641113	0.36676	2.137499	0.999943393572621	0.47345	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.97	2.99	0.33673	1.347000	0.33580	0.930000	0.22772	0.676000	0.76740	0.915000	0.31815	0.347000	0.24452	0.973000	0.55318	0.213:0.0:0.6506:0.1363	5.825	0.17804	470	0.78111	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs17481405	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	917.98	37	chr1	183215528	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.77;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	197101048	197101048	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T8203G:p.F2735V,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	167737	ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.977	D	0.87	P	0.041	N	0.999	N	2.84	M	-0.55	T	-0.505	T	0.462	T	0.442	2.559	14.52	2.77	0.478	2.084	6.107	0.303	.	7.7e-05	0.00559105	0.0020	0	0.0002	0	0	0	0	0.0145	0.0018046	279	154602	rs372416792	0.0008	0.0008	0.0005	0.0012	0.0130	0.0008	0.0008	0.0124	0.0121	3.006e-05	6.756e-05	0	0	0	0.0003	2.7e-06	0.0012	0.0130	0.0005	0.0005	0.0003	0.0006	0.0145	0.0004	0.0004	0.0118	0.0108	4.817e-05	0	0	0	0	0	0	0	0	0.0145	0.006	0.61437	D	0.038	0.51421	D	0.973	0.57599	D	0.87	0.61806	P	0.041163	0.23978	N	0.400687	1	0.21619	N	2.895	0.83812	M	-0.55	0.71068	T	-3.22	0.64939	D	0.188	0.20528	-0.5051	0.68464	T	0.462	0.79168	T	10	0.009033561	0.00204	T	.	.	.	0.303	0.62400	.	.	0.673305021989	0.67053	0.0198826608712278	0.01941	.	.	0.294791817665	0.09627	T	0.355614	0.72259	T	-0.313263	0.07464	T	-0.211081	0.53591	T	0.0904703142660573	0.11274	T	0.780422	0.41514	T	0.19454367	0.41208	0.18985574	0.42355	0.19454367	0.41207	0.18985574	0.42354	-10.368	0.76085	D	.	.	0.138	0.30184	B	.	.	1.539156	0.19741	14.41	0.92047509279450745	0.21390	0.31518	0.24357	N	AEFBI	0.172406	0.29944	N	-0.123788452503402	0.36359	2.100528	-0.382745817838522	0.25511	1.403407	0.973618306099741	0.29471	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.95	2.77	0.31614	2.308000	0.43350	-0.683000	0.07876	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.384000	0.26424	0.6683:0.1693:0.0:0.1624	6.107	0.19303	179	0.93046	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2044.98	34	chr1	197101048	.	A	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.327e+00;DP=849;ExcessHet=0.0000;FS=11.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.56;SOR=0.943	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr1	197356836	197356836	A	T	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon3:c.A658T:p.T220S	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.626	P	0.314	B	.	.	1.000	D	1.94	M	-2.36	D	-0.103	T	0.645	D	0.247	1.547	11.13	2.79	0.347	2.065	5.375	0.328	0.174756425666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.24277	T	0.296	0.33000	T	0.416	0.35222	B	0.199	0.38015	B	.	.	.	.	0.959338	0.46032	D	0.81	0.20779	L	-3.01	0.92208	D	-1.61	0.38734	N	0.246	0.40264	-0.1026	0.80039	T	0.645	0.87614	D	9	0.29548082	0.47117	T	0.174756	0.85105	D	0.328	0.65026	0.534	0.64293	0.856021758553	0.85463	0.3310163935076403	0.33014	0.0524407087411	0.05777	0.395722597837	0.24473	T	0.392266	0.88903	T	0.00803412	0.52756	T	-0.226236	0.52134	T	0.226926073431969	0.21804	T	0.281772	0.33695	T	0.08560376	0.19863	0.1282542	0.30859	0.08560376	0.19862	0.1282542	0.30859	-4.082	0.29773	T	.	.	0.103	0.18705	B	.;.;.;.;.	.;.;.;.;.	1.988201	0.25258	16.70	0.95204046005411525	0.26403	0.79553	0.39443	D	AEFDGCI	0.296535	0.40635	N	-0.398520786288524	0.25521	1.386037	-0.373603993052003	0.25786	1.420257	0.211119225433095	0.18240	0.514905	0.20481	0	0.573078	0.20572	0	0.603688	0.36954	0	0.633917	0.49826	0	.	.	5.18	2.79	0.31792	1.796000	0.38428	1.368000	0.25934	-0.065000	0.16512	0.993000	0.37899	0.287000	0.24143	0.678000	0.33484	0.7605:0.0:0.085:0.1545	5.375	0.15464	397	0.82902	.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	954.98	37	chr1	197356836	.	A	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=763;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.100e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1362	20	0	1	0
chr1	197442279	197442279	G	A	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon9:c.G3656A:p.R1219H	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	0	1490	32	0	0	32	0.0106242	.	.	105795	not_provided|Leber_congenital_amaurosis_8|Retinitis_pigmentosa_12|Leber_congenital_amaurosis|Pigmented_paravenous_retinochoroidal_atrophy|Retinitis_pigmentosa|CRB1-related_disorder|not_specified|Leber_congenital_amaurosis_1	MedGen:C3661900|MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65|MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.194	B	0.061	B	.	.	1.000	D	0.4	N	-2.89	D	0.112	D	0.765	D	0.701	2.077	12.90	0.617	0.064	0.823	8.925	0.598	0.171466875088	0.0007	0.000998403	0.0015	0.0006	0.0006	0	0	0.0009	0.0033	0.0065	0.0013907	215	154602	rs62636285	0.0012	0.0012	0.0010	0.0015	0.0076	0.0012	0.0012	0.0071	0.0069	0.0003	0.0009	0.0009	0	0	0.0021	0.0009	0.0013	0.0076	0.0010	0.0010	0.0009	0.0012	0.0081	0.0009	0.0008	0.0061	0.0054	0.0005	0	0.0016	0.0006	0	0	0.0068	0.0010	0.0005	0.0081	0.957	0.22746	T	0.426	0.13872	T	0.016	0.29493	B	0.019	0.26820	B	.	.	.	.	0.998526	0.81001	D	0.53	0.13656	N	-2.89	0.98390	D	-1.45	0.49018	N	0.599	0.74826	0.112	0.84395	D	0.765	0.92009	D	9	0.009081215	0.00205	T	0.171467	0.84873	D	0.598	0.84074	.	.	0.855330142361	0.85393	0.7489288269697888	0.74838	0.0380857293076	0.04044	0.205337181687	0.00629	T	0.29748	0.76546	T	-0.0870302	0.38565	T	0.106076	0.77311	D	0.011563885380048	0.00175	T	0.70223	0.44094	T	0.073039584	0.16292	0.073683605	0.16037	0.07025654	0.15459	0.06356827	0.12612	-5.623	0.48053	T	0.17755216793042805	0.22712	0.102	0.26947	B	.;.;.;.;.;.	.;.;.;.;.;.	2.474297	0.31895	18.88	0.87126434447967349	0.17006	0.65335	0.32703	D	ALL	0.204523	0.33095	N	-0.850175086300533	0.12046	0.5848034	-0.710788130205812	0.16693	0.8842335	0.999999999999696	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	5.6	0.617	0.16794	1.156000	0.31323	1.545000	0.27254	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.426:0.0:0.574:0.0	8.925	0.34794	355	0.85216	.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1617.98	34	chr1	197442279	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=825;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.063;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1300	20	0	1	0
chr1	201089263	201089263	A	G	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon6:c.T895C:p.Y299H,	Hypokalemic periodic paralysis, type 1, Autosomal dominant	YES	1	1517	4	0	0	4	0.00131666	.	.	249651	Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|not_specified|Congenital_myopathy_18	MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.825	H	-4.42	D	0.563	D	0.904	D	0.351	4.151	21.5	4.85	1.952	9.065	14.714	0.873	.	0.0070	0.00479233	0.0021	0.0235	0.0009	0	0	3.004e-05	0.0011	6.065e-05	0.0019987	309	154602	rs35856559	0.0008	0.0008	0.0009	0.0007	0.0287	0.0008	0.0008	0.0272	0.0266	0.0287	0.0011	0	5.038e-05	0	0.0017	2.248e-05	0.0020	6.956e-05	0.0072	0.0072	0.0071	0.0073	0.0252	0.0068	0.0067	0.0239	0.0234	0.0252	0	0.0022	0	0.0006	0	0	4.41e-05	0.0028	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000044	0.53742	D	0.128767	0.999984	0.54805	D	4.08	0.97210	H	-4.42	0.97469	D	-4.47	0.77881	D	0.962	0.97750	0.563	0.91403	D	0.904	0.96805	D	10	0.016077429	0.00338	T	.	.	.	0.873	0.96207	.	.	0.962102009836	0.96169	0.9201713788713717	0.91993	0.592222424292	0.54623	0.876785755157	0.93524	D	0.783625	0.96710	D	-0.0789796	0.39881	T	0.134047	0.79155	D	0.083338474373864	0.10409	T	0.988576	0.96102	D	0.8064364	0.84320	0.75526536	0.85536	0.7769782	0.82470	0.73921686	0.84587	-11.211	0.80802	D	0.7729291170277761	0.85373	0.797	0.77135	P	.;.	.;.	4.861463	0.79558	27.1	0.99852932686632134	0.93191	0.94460	0.61236	D	AEFGBHCI	0.905360	0.85678	D	0.90775613330826	0.92133	11.25219	0.783717617337833	0.88637	9.658235	0.999999999999997	0.74766	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	9.154000	0.93851	11.026000	0.85008	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	1.0:0.0:0.0:0.0	14.714	0.68869	917	0.20147	Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1472.98	34	chr1	201089263	.	A	G	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=849;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-3.670e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q	.	YES	429	1062	29	2	0	33	0.015299	0.9976	0.922	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.128	B	0.126	B	0.001	N	0.988	D	0.875	L	-2.49	D	-0.213	T	0.527	D	0.194	3.623	18.43	4.83	1.418	4.600	14.526	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	751.98	61	chr1	202746142	.	C	T	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=1311;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-2.220e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr1	207472858	207472858	A	C	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001006658:exon10:c.A1657C:p.T553P	Immunodeficiency, common variable, 7, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.992	D	.	.	0.970	D	3.645	H	-0.18	T	0.422	D	0.533	D	0.68	2.155	13.16	5.75	2.195	2.203	12.454	0.170	0.0530018782561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282362435	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.61437	D	0.018	0.63918	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.970102	0.38774	D	3.55	0.93268	H	-0.18	0.65747	T	-3.75	0.74504	D	0.384	0.50056	0.422	0.89429	D	0.533	0.82704	D	9	0.616275	0.67723	D	0.053002	0.65297	D	0.450	0.75074	0.573	0.69695	0.898941663445	0.89793	0.7970443944825194	0.79657	0.768272729556	0.64638	0.380778610706	0.22367	T	0.584075	0.86425	D	0.0546687	0.58942	T	-0.0623946	0.66165	T	0.921129941940308	0.58062	D	0.705929	0.31637	T	0.6210581	0.73820	0.67675	0.81016	0.6210581	0.73821	0.67675	0.81017	-12.581	0.87565	D	.	.	0.235	0.55631	B	.;.;.	.;.;.	2.603545	0.33800	19.45	0.95228470884434446	0.26456	0.71691	0.35123	D	AEFBI	0.431529	0.49378	N	0.621729621380399	0.74551	6.151913	0.500178006453294	0.68004	5.160439	0.97477292502509	0.29572	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.75	5.75	0.90390	1.763000	0.38090	4.527000	0.43710	0.756000	0.94297	0.036000	0.20778	0.999000	0.35428	0.347000	0.25591	1.0:0.0:0.0:0.0	12.454	0.55031	808	0.43318	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1615.98	40	chr1	207472858	.	A	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.660e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	20	0	1	0
chr1	209634623	209634623	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388A:p.G130S	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1879050	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.992	D	0.656	P	0.041	N	0.739	D	0.19	N	-1.16	T	-0.439	T	0.283	T	0.342	2.909	15.69	4.27	2.232	4.153	10.263	0.258	0.0701824915475	.	.	6.984e-05	0.0001	9.301e-05	0	0	0	0	0.0004	5.17e-05	8	154602	rs769334793	1.984e-05	1.984e-05	9.531e-06	3.026e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	2.698e-06	3.314e-05	0.0003	6.578e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.162	0.35726	T	0.257	0.30045	T	0.992	0.64738	D	0.656	0.52685	P	0.040873	0.24011	N	0.434279	0.739315	0.33804	D	1.235	0.30780	L	-1.16	0.78082	T	-0.68	0.19509	N	0.379	0.42247	-0.4392	0.70757	T	0.283	0.65498	T	10	0.31334627	0.48786	T	0.070182	0.70933	D	0.258	0.56959	0.494	0.58206	0.86423548863	0.86292	0.5501809059484342	0.54944	0.507590868077	0.48939	0.360830128193	0.19507	T	0.15756	0.50021	T	-0.224705	0.17356	T	-0.244393	0.50368	T	0.23976357281208	0.22408	T	0.825817	0.51993	T	0.1420785	0.32711	0.13239014	0.31771	0.1420785	0.32711	0.13239014	0.31770	-4.667	0.33002	T	.	.	0.106	0.22609	B	.;.;.;.	.;.;.;.	3.975341	0.58407	24.0	0.99795636170021795	0.88106	0.90071	0.50965	D	AEFDBCI	0.640718	0.61831	D	0.198367332307597	0.51121	3.295888	0.229124585037969	0.51469	3.329246	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	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	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1220,99,1220,1220	19	0	1	0
chr1	209634623	209634623	C	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388T:p.G130C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	278682	Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.041	N	0.919	D	1.78	L	-1.37	T	0.264	D	0.584	D	0.527	3.219	16.79	4.27	2.232	4.153	10.263	0.595	0.347312962355	.	.	6.984e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs769334793	2.737e-05	2.736e-05	1.225e-05	4.264e-05	0.0004	2.063e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.97e-05	0.0004	1.973e-05	1.97e-05	1.286e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.040873	0.24011	N	0.434279	0.919379	0.36632	D	2.48	0.72069	M	-1.37	0.80214	T	-2.54	0.55025	D	0.586	0.60664	0.264	0.86968	D	0.584	0.85079	D	10	0.49766478	0.61362	T	0.347313	0.92175	D	0.595	0.83911	0.59	0.71874	0.941097715605	0.94048	0.7029622431560919	0.70237	0.551627245893	0.51996	0.403543412685	0.25561	T	0.451514	0.79220	T	-0.117506	0.33531	T	-0.100589	0.63352	T	0.486158907413483	0.32123	T	0.836816	0.56877	T	0.7056676	0.78368	0.47298768	0.69450	0.7056676	0.78369	0.47298768	0.69451	-11.836	0.84042	D	.	.	0.554	0.67711	A	.;.;.;.	.;.;.;.	4.672407	0.74688	26.2	0.99745700666787718	0.83852	0.93393	0.58097	D	AEFDBCI	0.728931	0.67680	D	0.525015320884231	0.68573	5.235883	0.456130249703696	0.65112	4.782694	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	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	0	0	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1220,99,1220,1220	19	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	57589	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	1.0	D	0.987	D	0.001	U	1.000	D	1.555	L	0.46	T	-0.776	T	0.190	T	0.974	3.861	19.61	4.17	1.264	3.440	13.484	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1928.98	38	chr1	215671031	.	C	T	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=859;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-8.390e-01;SOR=0.539	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	20	0	1	0
chr1	216046516	216046516	C	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon32:c.G6240T:p.K2080N,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	1	1498	23	0	0	23	0.00761842	.	.	57717	not_specified|Retinitis_pigmentosa_39|not_provided|Retinitis_pigmentosa|Usher_syndrome_type_2A	MedGen:CN169374|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.883	P	0.299	B	0.157	N	1.000	N	1.89	L	0.64	T	-1.028	T	0.078	T	0.056	1.808	12.00	0.708	-0.059	0.421	8.903	0.107	.	0.0100	0.00399361	0.0059	0.0106	0.0048	0	0.0030	0.0078	0.0066	0.0006	0.0062095	960	154602	rs114402911	0.0070	0.0070	0.0072	0.0068	0.0097	0.0069	0.0068	0.0089	0.0085	0.0097	0.0048	0.0074	0	0.0020	0.0068	0.0080	0.0067	0.0009	0.0073	0.0073	0.0075	0.0071	0.0095	0.0069	0.0068	0.0087	0.0084	0.0095	0	0.0095	0.0075	0	0.0018	0.0272	0.0073	0.0080	0.0004	0.041	0.41915	D	0.013	0.63109	D	0.883	0.48537	P	0.299	0.41006	B	0.157149	0.17778	N	0.464297	0.976066	0.25396	N	1.765	0.45800	L	0.64	0.52867	T	-1.6	0.38540	N	0.087	0.06454	-1.0276	0.21233	T	0.078	0.31103	T	10	0.008006275	0.00182	T	.	.	.	0.107	0.30369	0.473	0.54859	0.871063477412	0.86980	0.4193150408643054	0.41847	0.0456341534263	0.04953	0.268486261368	0.05945	T	0.066692	0.33011	T	-0.601815	0.00142	T	-0.624269	0.10853	T	0.0247992906463363	0.01247	T	0.632737	0.24712	T	0.11614702	0.27398	0.096927784	0.23050	0.11614702	0.27398	0.096927784	0.23049	-3.633	0.18335	T	0.2511460964332233	0.33986	0.220	0.45024	B	.	.	1.287203	0.16875	12.82	0.98589201794234105	0.43349	0.68701	0.33902	D	AEFDBIJ	0.147190	0.27080	N	-0.214522887373214	0.32537	1.836038	-0.213457198696788	0.31051	1.753796	0.989790624125851	0.31938	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	0.708	0.17301	0.412000	0.20852	-0.198000	0.10972	-0.181000	0.10308	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.2963:0.0:0.7037	8.903	0.34663	812	0.42537	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	875.98	46	chr1	216046516	.	C	A	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.739;SOR=0.656	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	216198340	216198340	C	G	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon18:c.G4056C:p.W1352C	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	0.001	U	1.000	D	3.235	M	0.58	T	-0.044	T	0.448	T	0.873	3.880	19.72	5.56	2.619	4.810	19.536	0.373	0.125635589755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.915	0.97372	D	0.000972	0.40836	U	0.000000	1	0.81001	D	3.715	0.94732	H	0.58	0.54149	T	-8.26	0.97942	D	0.745	0.76853	-0.0441	0.81331	T	0.448	0.78318	T	10	0.83187044	0.82349	D	0.125636	0.80718	D	0.373	0.69188	0.391	0.41443	0.844514592233	0.84302	0.6634171615678081	0.66278	0.153881245274	0.17371	0.500940382481	0.38959	T	0.393815	0.75312	T	0.267661	0.80231	D	0.147	0.79975	D	0.999572217464447	0.97978	D	0.80342	0.45053	T	0.8991477	0.91306	0.85981107	0.92166	0.8991477	0.91308	0.85981107	0.92166	-12.194	0.86685	D	0.7804321588867548	0.86039	0.838	0.79500	P	.;.	.;.	3.553470	0.49967	22.9	0.99193955044977311	0.55053	0.97939	0.78280	D	AEFI	0.642414	0.61940	D	0.815104492602586	0.87043	9.083311	0.751415195389132	0.86263	8.833466	0.999969816312926	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.885000	0.62834	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.536	0.95248	851	0.35303	Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	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	681.98	61	chr1	216198340	.	C	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.111e+00;DP=751;ExcessHet=0.0000;FS=1.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.900e-02;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	216289360	216289360	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon11:c.G1891A:p.D631N	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	584458	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.151	B	0.062	B	0.000	D	0.996	D	1.825	L	2.56	T	-1.113	T	0.052	T	0.064	2.853	15.50	4.51	2.712	3.286	13.951	0.072	0.00780004170661	.	0.000199681	0.0001	0	0	0	0	0	0	0.0011	0.0001229	19	154602	rs552400144	8.073e-05	8.072e-05	4.493e-05	0.0001	0.0012	6.868e-05	6.421e-05	0.0010	0.0010	2.987e-05	0	0	0	0	0.0003	8.994e-07	0.0001	0.0012	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.36	0.15303	T	0.387	0.28210	T	0.151	0.28027	B	0.062	0.26930	B	0.000408	0.44736	D	0.000000	0.996318	0.43134	D	1.745	0.45235	L	2.56	0.19860	T	-1.14	0.31778	N	0.341	0.38232	-1.1132	0.02809	T	0.052	0.21921	T	10	0.040113956	0.02553	T	0.008	0.20694	T	0.072	0.21020	0.439	0.49321	0.858411425167	0.85704	0.6512583296511882	0.65061	0.0485055709482	0.05301	0.409390985966	0.26372	T	0.05509	0.29909	T	-0.589798	0.00168	T	-0.676329	0.07210	T	0.083727542400145	0.10458	T	0.766723	0.39447	T	0.092406034	0.21677	0.07651878	0.16954	0.092406034	0.21676	0.07651878	0.16954	-4.862	0.35305	T	.	.	0.092	0.14108	B	.;.	.;.	3.019632	0.40410	21.2	0.99816847366913641	0.89973	0.91057	0.52775	D	AEFDIJ	0.268287	0.38482	N	0.000615715169083722	0.41883	2.513296	0.156094684961013	0.47466	2.976391	0.113510539115499	0.16710	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	4.51	0.54589	3.185000	0.50635	2.209000	0.31352	0.599000	0.40250	0.995000	0.38783	0.978000	0.30204	0.773000	0.36634	0.0:0.9268:0.0:0.0732	13.951	0.63631	872	0.31118	Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1860.98	36	chr1	216289360	.	C	T	1860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.950e-01;DP=885;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.614;SOR=0.600	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,114,1710	20	0	1	0
chr1	216292337	216292337	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon10:c.C1678T:p.P560S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	1470851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.975	D	0.018	N	1.000	D	3.13	M	0.08	T	-0.198	T	0.405	T	0.299	3.567	18.18	3.9	1.041	3.836	9.037	0.507	0.265531050967	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147509797	4.105e-06	4.104e-06	4.084e-06	4.126e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.041	0.50514	D	0.999	0.77913	D	0.96	0.73362	D	0.017740	0.27651	N	0.170250	1	0.81001	D	2.925	0.84406	M	0.08	0.61559	T	-4.86	0.82221	D	0.616	0.63204	-0.1978	0.77727	T	0.405	0.75501	T	10	0.76943696	0.76963	D	0.265531	0.89677	D	0.507	0.78786	.	.	0.918473588734	0.91765	0.8522833187631198	0.85190	0.238160017466	0.26361	0.391883283854	0.23935	T	0.400848	0.75831	T	-0.0522605	0.44103	T	-0.312845	0.43353	T	0.990870177745819	0.81111	D	0.715328	0.32778	T	0.2519444	0.48207	0.28536314	0.54539	0.2519444	0.48207	0.28536314	0.54538	-8.289	0.64217	D	.	.	0.211	0.48908	B	.;.	.;.	3.070662	0.41274	21.3	0.99853801270509912	0.93279	0.91730	0.54141	D	AEFI	0.484885	0.52471	N	0.462652642526532	0.64923	4.758281	0.375675220774263	0.60068	4.190509	0.0015309404475454	0.08613	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	3.9	0.44240	3.747000	0.54853	4.303000	0.42946	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0787:0.1468:0.7745:0.0	9.037	0.35458	854	0.34840	Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	1220.98	34	chr1	216292337	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=797;ExcessHet=0.0000;FS=3.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.64;SOR=1.109	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	20	0	1	0
chr1	235791906	235791906	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon12:c.C4336T:p.R1446W	Chediak-Higashi syndrome, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	941796	Spastic_ataxia|not_provided|Chédiak-Higashi_syndrome	Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226|MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.528	P	0.812	N	1.000	D	0.69	N	0.05	T	-0.803	T	0.206	T	0.246	3.836	19.48	4.82	1.511	4.780	14.424	0.147	0.030860826904	.	.	7.415e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs200276917	6.499e-05	6.498e-05	6.534e-05	6.463e-05	0.0014	5.428e-05	5.042e-05	0.0007	0.0005	2.987e-05	0.0001	0	0	0	0.0014	6.385e-05	0.0001	2.319e-05	9.85e-05	9.843e-05	8.996e-05	0.0001	0.0002	6.003e-05	4.877e-05	6.806e-05	5.089e-05	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0	0.028	0.46129	D	0.034	0.52727	D	0.992	0.64738	D	0.513	0.47989	P	0.811968	0.09244	N	0.930000	1	0.81001	D	1.61	0.41143	L	0.05	0.61923	T	-2.55	0.55181	D	0.411	0.45142	-0.8033	0.54950	T	0.206	0.56444	T	10	0.3091087	0.48401	T	0.030861	0.53076	D	0.147	0.38986	.	.	0.34936206512	0.34543	0.48117319188314295	0.48037	.	.	0.207420796156	0.00706	T	0.229094	0.59482	T	-0.26321	0.12526	T	-0.379191	0.35816	T	0.170652747154236	0.18624	T	0.954005	0.82493	D	0.114483014	0.27025	0.10930218	0.26342	0.114483014	0.27025	0.10930218	0.26341	-5.467	0.41559	T	0.11129387365848188	0.09500	0.099	0.16626	B	.	.	4.011013	0.59175	24.1	0.99922044094809404	0.98852	0.95754	0.66012	D	AEFDBI	0.776058	0.70928	D	0.328953870541399	0.57639	3.932099	0.381663525327703	0.60434	4.231015	0.821026398408441	0.24524	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.76	4.82	0.61641	4.854000	0.62617	3.362000	0.37867	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.865000	0.41091	0.0:0.0:0.8479:0.1521	14.424	0.66775	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	33	chr1	235791906	.	G	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=797;ExcessHet=0.0000;FS=3.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-1.710e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	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	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1157	15	0	6	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	YES	1	1501	19	1	0	21	0.00694674	.	.	366335	not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.004	B	0.002	B	0.051	N	1.000	N	-0.6	N	1.47	T	-1.057	T	0.016	T	0.055	-0.523	1.616	-12.0	-2.864	-1.892	5.102	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2146.98	40	chr2	21003040	.	C	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.094e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr2	33347499	33347499	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon21:c.G2885A:p.R962Q	.	YES	430	1028	59	5	0	69	0.0324706	.	.	719865	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.993	D	0.825	P	.	.	0.992	D	1.385	L	-1.33	T	-0.299	T	0.443	T	0.41	2.992	15.98	3.32	0.605	-0.232	5.496	0.329	.	0.0048	0.00239617	0.0046	0.0010	0.0027	0	0.0011	0.0059	0.0110	0.0064	0.0044113	682	154602	rs141080282	0.0046	0.0046	0.0045	0.0048	0.0326	0.0045	0.0045	0.0288	0.0273	0.0015	0.0041	0.0065	2.519e-05	0.0008	0.0326	0.0047	0.0060	0.0062	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0009	0	0.0083	0.0069	0	0.0008	0.0272	0.0061	0.0095	0.0056	0.007	0.61437	D	0.089	0.46862	T	0.937	0.65571	P	0.361	0.59331	B	.	.	.	.	0.986415	0.41471	D	0.84	0.21119	L	-1.45	0.81559	T	-1.77	0.53577	N	0.17	0.23506	-0.2989	0.75015	T	0.443	0.78020	T	9	0.0047613382	0.00101	T	.	.	.	0.329	0.65126	.	.	0.20808081866	0.20439	0.5008590233587867	0.50007	0.166082223785	0.18743	0.329884946346	0.14917	T	0.154079	0.49521	T	-0.302344	0.08439	T	-0.203068	0.54355	T	0.0117555559307881	0.00181	T	0.90461	0.67274	D	0.0548804	0.10592	0.079973504	0.18051	0.0548804	0.10591	0.079973504	0.18050	-3.652	0.18715	T	.	.	0.084	0.12750	B	.;.;.;.;.;.	.;.;.;.;.;.	3.092193	0.41643	21.4	0.9962135397256433	0.75413	0.58970	0.30787	D	AEFBI	0.116140	0.22806	N	-0.261098715989665	0.30663	1.711816	-0.257002608460044	0.29531	1.655216	0.968231963240508	0.29037	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.19	3.32	0.37134	1.551000	0.35841	7.375000	0.58420	-0.126000	0.13398	0.354000	0.25792	1.000000	0.68203	0.290000	0.24260	0.0741:0.1778:0.6105:0.1376	5.496	0.16096	850	0.35610	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	38	chr2	33347499	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=804;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-2.070e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	YES	0	1399	110	13	0	136	0.0463531	.	.	22778	not_provided|Irido-corneo-trabecular_dysgenesis|Glaucoma_3A|not_specified|Congenital_ocular_coloboma|Congenital_glaucoma|Myopathy,_centronuclear,_5|Anterior_segment_dysgenesis_6|CYP1B1-related_disorder|Glaucoma,_early-onset,_digenic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN239260|MedGen:C4016760	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	A	2.695	M	-0.56	T	0.251	D	0.577	D	0.897	4.585	24.9	5.65	2.657	7.675	17.194	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6219.11	34	chr2	38071251	.	C	T	6219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=1312;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.33;SOR=0.599	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	19	0	2	0
chr2	47369516	47369516	C	T	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon1:c.C11T:p.P4L,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	621120	not_specified|Congenital_diarrhea_5_with_tufting_enteropathy|Lynch_syndrome_8	MedGen:CN169374|MONDO:MONDO:0013184,MedGen:C2750737,OMIM:613217,Orphanet:92050|MONDO:MONDO:0013196,MedGen:C2750471,OMIM:613244,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.8	T	0.014	B	0.002	B	0.239	N	0.995	N	1.445	L	-0.77	T	-0.841	T	0.365	T	0.25	0.676	7.618	1.17	0.042	0.236	5.881	0.105	0.515611264416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778641299	2.834e-06	5.472e-06	5.612e-06	0	0.0001	6.6e-07	4.5e-07	4.26e-05	2.593e-05	0.0001	0	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	4.811e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0	0.643	0.91255	T	0.597	0.92824	T	0.014	0.16867	B	0.002	0.06944	B	0.239396	0.15745	N	0.616838	0.999978	0.23308	N	1.59	0.40313	L	-0.77	0.84842	T	-1.2	0.30555	N	0.138	0.13626	-0.8406	0.52607	T	0.365	0.72575	T	10	0.090209454	0.15695	T	0.515611	0.95368	D	0.105	0.29889	0.34	0.33141	0.208000267992	0.20380	0.6097746306863321	0.60909	0.0126512026811	0.01211	0.678605496883	0.64069	T	0.155555	0.49733	T	-0.00658684	0.50741	T	-0.247238	0.50089	T	0.06254792958498	0.07565	T	0.515049	0.16594	T	0.028396368	0.02172	0.048641883	0.07268	0.028396368	0.02171	0.048641883	0.07268	-2.429	0.05314	T	.	.	0.153	0.48156	B	.;.	.;.	1.065456	0.14476	11.05	0.95829439097275959	0.27933	0.03546	0.08744	N	AEFDGBHCI	0.059090	0.11135	N	-1.16372069653837	0.05558	0.2536752	-1.18262526453959	0.06200	0.2976716	0.99999999996966	0.74766	0.441713	0.08003	0	0.475579	0.06741	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.97	1.17	0.19998	0.251000	0.18025	-0.416000	0.09315	-0.281000	0.06419	0.008000	0.17931	0.000000	0.08366	0.050000	0.15192	0.0:0.6529:0.0:0.3471	5.881	0.18105	893	0.26510	.;.	.	.	.	.	.	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	0	0	0.02381	865.98	33	chr2	47369516	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.070e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	47377058	47377058	A	G	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon5:c.A536G:p.K179R,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.236	B	0.039	B	0.005	N	0.976	D	1.73	L	-0.69	T	-0.658	T	0.246	T	0.437	0.909	8.697	4.98	2.084	2.677	10.997	0.217	0.0246381896829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.26740	T	0.267	0.24987	T	0.236	0.30770	B	0.039	0.23607	B	0.005455	0.32788	N	0.343603	0.97576	0.39217	D	2.125	0.59049	M	-0.7	0.72785	T	-1.22	0.30964	N	0.44	0.47857	-0.6583	0.62351	T	0.246	0.61530	T	10	0.31376582	0.48824	T	0.024638	0.47627	T	0.217	0.51112	0.398	0.42590	0.591171394266	0.58793	0.18962762654596044	0.18880	0.0131313156264	0.01263	0.507154047489	0.39824	T	0.023071	0.60309	T	-0.00138924	0.51464	T	-0.239772	0.50821	T	0.456063628196716	0.31020	T	0.653735	0.26383	T	0.085854374	0.19934	0.07957987	0.17927	0.085854374	0.19934	0.07957987	0.17926	-3.166	0.12070	T	0.14377269052840694	0.16371	0.079	0.07507	B	.;.	.;.	1.506783	0.19364	14.22	0.98129383231111922	0.38506	0.88003	0.47745	D	AEBI	0.419958	0.48697	N	-0.116900813602991	0.36655	2.121797	-0.0378151055870336	0.38022	2.234247	0.383031909225997	0.19978	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	3.128000	0.50186	3.348000	0.37762	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	1.0:0.0:0.0:0.0	10.997	0.46800	879	0.29470	.;.	.	.	.	.	.	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	1703.98	33	chr2	47377058	.	A	G	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e+00;DP=870;ExcessHet=0.0000;FS=0.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.515;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr2	47798646	47798646	A	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A273C:p.E91D	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	YES	0	1516	6	0	0	6	0.00197498	.	.	95026	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Carcinoma_of_colon|Abnormality_of_the_ovary|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_5|Hereditary_cancer	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.884	P	0.268	B	0.704	N	1.000	D	1.52	L	0.16	T	-0.561	T	0.384	T	0.427	1.422	10.69	-0.723	-0.032	-0.302	4.968	0.316	0.0227959788225	0.0008	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0007	0.0006015	93	154602	rs41557217	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0010	5.974e-05	0.0005	0	0	5.756e-05	0.0007	0.0008	0.0005	0.0012	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0	0.0009	0	0.0002	0	0.0068	0.0009	0.0009	0.0006	0.16	0.23721	T	0.425	0.92824	T	0.003	0.11197	B	0.002	0.06944	B	0.703756	0.10072	N	0.876699	0.998675	0.51612	D	1.59	0.40313	L	-1.92	0.85173	D	-0.87	0.26639	N	0.169	0.17966	-0.5613	0.66354	T	0.384	0.73966	T	10	0.031133354	0.01245	T	0.022796	0.45720	T	0.316	0.63799	0.092	0.01108	0.841943260456	0.84042	0.07321851081520586	0.07258	.	.	0.410471796989	0.26522	T	0.279066	0.65174	T	-0.286055	0.10034	T	-0.234116	0.51373	T	0.00678472511881113	0.00076	T	0.643236	0.29028	T	0.032249473	0.03216	0.04116448	0.04617	0.038520277	0.05146	0.049310256	0.07507	-3.545	0.22662	T	0.09027583960300532	0.05605	0.079	0.09772	B	.;.;.;.	.;.;.;.	0.944175	0.13202	9.701	0.98176351431738729	0.38907	0.73602	0.36002	D	AEFBCI	0.155883	0.28115	N	-0.495809778911639	0.22217	1.184772	-0.496778031112651	0.22242	1.20716	0.985806220003635	0.30952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.27	-0.723	0.10617	-0.266000	0.08660	-0.416000	0.09315	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4342:0.0:0.4134:0.1524	4.968	0.13447	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.04762	5489.11	34	chr2	47798646	.	A	C	5489.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.234e+00;DP=1232;ExcessHet=0.1072;FS=1.725;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.744;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1186	19	0	2	0
chr2	58226763	58226763	G	C	exonic	FANCL	.	nonsynonymous SNV	FANCL:NM_001114636:exon4:c.C238G:p.L80V	Fanconi anemia, complementation group L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	393060	not_specified|Fanconi_anemia_complementation_group_L|See_cases|Fanconi_anemia	MedGen:CN169374|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84|.|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	0.000	D	1.000	D	2.165	M	0.33	T	-0.673	T	0.268	T	0.405	3.489	17.84	3.98	0.801	2.456	10.099	0.193	0.0249510211006	.	0.000199681	0.0002	0	8.694e-05	0	0	9.055e-05	0	0.0007	0.0001488	23	154602	rs563513081	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0002	0	0	0	0.0016	0.0001	0.0002	0.0008	0.0001	0.0001	0.0001	9.443e-05	0.0008	7.111e-05	5.764e-05	0.0003	0.0002	0	0	6.563e-05	0	0	0	0.0035	0.0002	0	0.0008	0.186	0.23007	T	0.273	0.92824	T	0.984	0.90584	D	0.867	0.92359	P	0.000000	0.84330	D	0.000000	0.999629	0.81001	D	2.36	0.67893	M	0.33	0.58323	T	-0.94	0.25770	N	0.562	0.58629	-0.6726	0.61711	T	0.268	0.63950	T	10	0.03964907	0.02472	T	0.024951	0.47933	T	0.193	0.47281	0.467	0.53891	0.438806408302	0.43502	0.5484643878156862	0.54772	0.0231559569802	0.02349	0.485911786556	0.36873	T	0.018978	0.43925	T	-0.290201	0.09617	T	-0.271414	0.47677	T	0.156170187254223	0.17584	T	0.856914	0.54589	D	0.102214575	0.24151	0.095297284	0.22595	0.102214575	0.24150	0.095297284	0.22594	-5.033	0.37197	T	0.3585848567382409	0.45521	0.124	0.32251	B	.;.;.;.	.;.;.;.	3.114497	0.42023	21.5	0.99794639016544773	0.88017	0.92338	0.55481	D	AEFBI	0.414703	0.48386	N	0.210454959020322	0.51706	3.349704	0.246389329544082	0.52445	3.419212	0.737416813894213	0.23154	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	3.98	0.45383	2.835000	0.47876	2.609000	0.33566	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.158:0.0:0.842:0.0	10.099	0.41666	761	0.50382	Fanconi anemia complex, subunit FancL, WD-repeat containing domain;Fanconi anemia complex, subunit FancL, WD-repeat containing domain;.;Fanconi anemia complex, subunit FancL, WD-repeat containing 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	1288.98	37	chr2	58226763	.	G	C	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.429;DP=887;ExcessHet=0.0000;FS=0.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.700e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr2	71526286	71526286	G	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon12:c.G1123C:p.V375L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1511	10	1	0	12	0.00395517	.	.	100164	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_specified|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.018	B	0.079	B	0.001	D	0.773	D	1.735	L	-1.52	D	-0.450	T	0.294	T	0.056	1.327	10.35	2.23	0.816	2.301	8.100	0.214	.	0.0081	0.00219649	0.0057	0.0019	0.0016	0	0.0092	0.0081	0.0066	0.0025	0.0056856	879	154602	rs150724610	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0100	0.0099	0.0012	0.0020	0.0001	2.519e-05	0.0078	0.0009	0.0101	0.0068	0.0024	0.0061	0.0061	0.0067	0.0055	0.0101	0.0058	0.0056	0.0095	0.0093	0.0014	0.0011	0.0040	0	0	0.0085	0	0.0101	0.0052	0.0029	0.089	0.32929	T	0.092	0.40909	T	0.002	0.17786	B	0.031	0.25434	B	0.000910	0.41128	D	0.212330	0.772638	0.34170	D	0.97	0.24054	L	-1.52	0.81478	D	-1.84	0.44284	N	0.154	0.17966	-0.4504	0.70387	T	0.294	0.66526	T	10	0.007504314	0.00171	T	.	.	.	0.214	0.50650	0.723	0.85761	0.635721508651	0.63273	0.35759641796665004	0.35673	0.160484152637	0.18112	0.478802144527	0.35892	T	0.264942	0.63676	T	-0.455883	0.01042	T	-0.421365	0.30919	T	0.00645475597468689	0.00072	T	0.917608	0.72230	D	0.07233059	0.16083	0.099955626	0.23884	0.0855163	0.19841	0.096285954	0.22870	-6.061	0.50525	T	0.08613788668318835	0.04929	0.223	0.48541	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.940558	0.57659	23.9	0.97828473811411021	0.36246	0.81161	0.40624	D	AEFBI	0.237441	0.35972	N	-0.310802416255865	0.28736	1.587536	-0.237463086190991	0.30205	1.698712	0.999822882834597	0.43622	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	2.23	0.27189	3.148000	0.50343	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.3107:0.0:0.6893:0.0	8.100	0.30013	541	0.72942	.;.;.;.;FerIin domain|FerIin domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	984.98	35	chr2	71526286	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=839;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.161;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr2	71569911	71569911	A	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon26:c.A2860T:p.M954L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	193183	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|DYSF-related_disorder|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|Distal_myopathy_with_anterior_tibial_onset	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|.|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.365	B	0.142	B	0.000	D	0.536	D	1.5	L	-3.26	D	0.595	D	0.695	D	0.405	3.184	16.66	5.21	2.099	4.968	13.333	0.427	0.119357099406	0.0018	0.000399361	0.0015	0.0006	0.0003	0	0.0009	0.0023	0.0011	0.0011	0.0015394	238	154602	rs144636654	0.0019	0.0019	0.0019	0.0019	0.0023	0.0019	0.0018	0.0022	0.0022	0.0003	0.0004	0	0	0.0014	0.0002	0.0023	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0021	0.0010	0.0010	0.0016	0.0015	0.0001	0.0110	0.0005	0	0	0.0011	0	0.0018	0.0024	0.0021	0.075	0.34444	T	0.072	0.43721	T	0.22	0.34004	B	0.059	0.33681	B	0.000031	0.55875	D	0.179041	0.535949	0.32014	D	1.24	0.30952	L	-3.26	0.93587	D	-1.23	0.31170	N	0.545	0.58629	0.595	0.91837	D	0.695	0.89481	D	10	0.016784072	0.00355	T	0.119357	0.79963	D	0.427	0.73445	0.481	0.56142	0.728666893031	0.72625	0.3870414648326476	0.38619	0.183762377744	0.20665	0.661811113358	0.61669	T	0.216928	0.57923	T	-0.199729	0.20844	T	-0.0655313	0.65942	T	0.0104503878400541	0.00144	T	0.788521	0.42806	T	0.4309394	0.62813	0.37394166	0.62571	0.4560806	0.64427	0.41085327	0.65334	-9.462	0.71039	D	0.2181223142002124	0.29367	0.228	0.48029	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.956671	0.58003	23.9	0.967557018203686	0.30980	0.94170	0.60325	D	AEFDBI	0.738059	0.68306	D	0.0893388028369319	0.45966	2.844448	0.234044868793907	0.51747	3.354553	0.998542344303848	0.37167	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.955000	0.63343	.	.	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.333	0.59943	459	0.78817	.;.;.;.;Peroxin/Ferlin domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr2	71569911	.	A	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.811;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D,	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	200025	Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9|not_provided|SUCLG1-related_disorder|not_specified	MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.3	H	-2.8	D	1.065	D	0.917	D	0.978	4.098	21.1	5.9	2.808	7.818	17.771	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1784.11	34	chr2	84443366	.	C	T	1784.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.626e+00;DP=798;ExcessHet=0.1072;FS=1.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.177;SOR=0.863	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	19	0	2	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	98396476	98396476	C	T	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.C1252T:p.R418W	Achromatopsia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	24521	not_provided|Retinal_dystrophy|Achromatopsia|Achromatopsia_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	A	3.71	H	-4.4	D	1.137	D	0.958	D	0.977	2.389	13.95	3.96	1.243	1.463	11.444	0.858	0.442367690163	0.0002	0.000199681	9.122e-05	9.787e-05	0	0.0001	0	4.527e-05	0	0.0004	7.76e-05	12	154602	rs104893621	6.978e-05	7.046e-05	6.398e-05	7.564e-05	0.0003	5.847e-05	5.457e-05	0.0002	0.0002	8.961e-05	0	0.0003	0.0001	0	0	5.126e-05	3.312e-05	0.0003	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0012	3.518e-05	2.617e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	A	3.825	0.95591	H	-4.4	0.97419	D	-7.49	0.95015	D	0.864	0.91505	1.137	0.99934	D	0.958	0.98639	D	9	0.9475945	0.94088	D	0.442368	0.94189	D	0.858	0.95655	.	.	0.999780721258	0.99977	0.8708964004251063	0.87055	0.520053127806	0.49812	0.684177279472	0.64869	T	0.852278	0.96649	D	0.289016	0.82075	D	0.487894	0.94369	D	0.989059329032898	0.79317	D	0.989851	0.96764	D	0.7516196	0.80962	0.5351026	0.73135	0.7428448	0.80456	0.48338583	0.70091	-14.13	0.93552	D	0.9858449454989004	0.99628	0.564	0.67382	P	.;.;.;.	.;.;.;.	5.299400	0.88975	29.8	0.99850493336936375	0.93013	0.58719	0.30718	D	AEFBI	0.559103	0.56805	D	0.316641426234155	0.57001	3.866101	0.144705948789566	0.46863	2.925359	0.0536682594544488	0.14946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.96	0.45097	1.569000	0.36037	1.779000	0.28700	-0.224000	0.07868	0.799000	0.29708	0.927000	0.28453	0.706000	0.34326	0.3274:0.6726:0.0:0.0	11.444	0.49357	279	0.89001	.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2765.08	35	chr2	98396476	.	C	T	2765.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.92;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	1	0	0
chr2	135150478	135150478	G	A	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon18:c.G2033A:p.C678Y	Warburg micro syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.989	D	0.000	D	1.000	D	1.52	L	0.95	T	-0.816	T	0.226	T	0.889	4.761	26.7	5.73	2.704	9.817	19.889	0.462	0.0328175055306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.194	0.28120	T	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.94	0.43672	T	-4.84	0.81350	D	0.806	0.80180	-0.8158	0.54196	T	0.226	0.59007	T	10	0.7528297	0.75763	D	0.032818	0.54540	D	0.462	0.75889	0.292	0.25400	0.787845960387	0.78587	0.7804006258329238	0.77991	1.08417428134	0.77226	0.861341714859	0.91309	D	0.410921	0.76552	T	0.229901	0.76712	D	0.0924597	0.76410	D	0.986279542489515	0.77035	D	0.965303	0.87188	D	0.6975966	0.77925	0.74918914	0.85175	0.6975966	0.77927	0.74918914	0.85176	-12.259	0.86089	D	0.8525736345874876	0.91832	0.967	0.90188	P	.;.;.	.;.;.	5.399074	0.90416	31	0.99790559603038553	0.87661	0.99076	0.90873	D	AEFBI	0.921676	0.89551	D	0.819535789666287	0.87312	9.174498	0.842327661817593	0.92561	11.49749	0.999999999999983	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.949000	0.98962	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.889	0.96921	847	0.35998	.;.;.	.	.	.	.	.	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	703.98	43	chr2	135150478	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.627e+00;DP=737;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.507;SOR=0.343	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	20	0	1	0
chr2	151494186	151494186	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.A18950G:p.K6317R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.997	D	0.000	D	1.000	D	2.145	M	0.24	T	-0.380	T	0.371	T	0.487	2.080	12.91	5.96	2.270	3.430	16.095	0.165	0.00989549436541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053712292	1.374e-06	2.052e-06	1.365e-06	1.382e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.28772	T	0.033	0.53072	D	0.735	0.42814	P	0.519	0.48163	P	0.000008	0.62929	D	0.000000	0.999251	0.51612	D	1.34	0.33385	L	0.24	0.59583	T	-1.63	0.39119	N	0.537	0.59053	-0.3799	0.72654	T	0.371	0.73008	T	10	0.343791	0.51384	T	0.009895	0.25766	T	0.165	0.42395	0.614	0.74768	0.618333858498	0.61524	0.3707436521108393	0.36988	0.318860891335	0.34104	0.692018032074	0.65996	T	0.019383	0.30014	T	-0.0321989	0.47096	T	-0.284028	0.46390	T	0.815143525600433	0.47416	D	0.886311	0.61284	D	0.22878627	0.45604	0.23727272	0.49020	0.22878627	0.45604	0.23727272	0.49019	-7.601	0.61825	D	.	.	0.105	0.19357	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.924342	0.57317	23.8	0.99491665130982765	0.67460	0.94642	0.61835	D	AEFGBI	0.316654	0.42088	N	0.393469512507884	0.61067	4.303049	0.468071954922695	0.65887	4.88073	0.99518634920807	0.33994	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	2.748000	0.47160	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.095	0.80926	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1152.98	34	chr2	151494186	.	T	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=813;ExcessHet=0.0000;FS=1.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-6.200e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	268544	NEB-related_disorder|Nemaline_myopathy_2|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.741	P	0.353	B	0.000	U	1.000	N	0.59	N	4.19	T	-1.031	T	0.083	T	0.245	3.714	18.86	5.09	0.872	4.337	11.822	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1073.98	34	chr2	151494220	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=816;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.613;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:137,17:154:31:0|1:151680729_C_T:0,31,4856:151680729	17	0	4	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	YES	425	1072	24	1	0	26	0.0119816	1.0000	0.938	516567	not_provided|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Immunodeficiency_95|IFIH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.460	23.8	4.74	2.331	7.182	18.077	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2711.11	33	chr2	162268086	.	C	T	2711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=809;ExcessHet=0.1072;FS=2.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-1.350e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr2	168957993	168957993	A	G	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon19:c.T2314C:p.Y772H,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.965	M	-2.54	D	0.705	D	0.778	D	0.812	4.000	20.5	5.23	2.100	8.190	14.384	0.882	0.354465477449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.018	0.59732	D	0.999	0.77913	D	0.98	0.74843	D	0.000001	0.84330	D	0.057607	1	0.81001	D	2.69	0.78713	M	-2.54	0.89496	D	-3.88	0.72710	D	0.877	0.87481	0.705	0.93237	D	0.778	0.92450	D	10	0.8489021	0.84062	D	0.354465	0.92354	D	0.882	0.96539	0.64	0.77687	0.93208053216	0.93138	0.7224134575175843	0.72185	0.703745904295	0.61285	0.685399889946	0.65045	T	0.75061	0.93163	D	0.299111	0.82896	D	0.191876	0.82675	D	0.988520205020905	0.78844	D	0.946405	0.79780	D	0.79101366	0.83336	0.7247084	0.83740	0.79101366	0.83338	0.7247084	0.83741	-7.757	0.59403	D	0.5092667073139988	0.58326	0.574	0.67815	P	.;.;.	.;.;.	4.797528	0.77915	26.8	0.99859804803203667	0.93820	0.97955	0.78405	D	AEFI	0.883967	0.81328	D	0.641075497400897	0.75791	6.369053	0.584908171601702	0.73857	6.03965	0.999999976934507	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	8.585000	0.90589	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	1.0:0.0:0.0:0.0	14.384	0.66500	832	0.38914	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	33	chr2	168957993	.	A	G	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=766;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.977;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1460	20	0	1	0
chr2	178454393	178454393	G	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001369912:exon2:c.G273T:p.R91S	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.991	D	0.987	D	0.005	U	1.000	D	1.04	L	2.17	T	-0.913	T	0.053	T	0.933	1.937	12.43	1.36	0.289	0.183	3.296	0.050	0.0138271386833	8.4e-05	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372693130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.0	0.92824	D	0.991	0.64070	D	0.987	0.77487	D	0.004769	0.33407	U	0.000000	0.999845	0.49770	D	1.045	0.26769	L	2.17	0.19020	T	0.08	0.06026	N	0.695	0.70000	-0.9126	0.46531	T	0.053	0.22539	T	10	0.30663106	0.48172	T	0.013827	0.33526	T	0.284	0.60219	0.491	0.57732	0.20549828249	0.20151	0.4981314221047082	0.49734	0.461855285749	0.45726	0.610638022423	0.54406	T	0.026981	0.19857	T	0.135671	0.67911	D	-0.0428951	0.67505	D	0.449941027428168	0.30795	T	0.868613	0.57103	D	0.09232867	0.21659	0.07326512	0.15901	0.09232867	0.21658	0.07326512	0.15901	-2.576	0.06323	T	0.1206592918906045	0.11369	0.338	0.58534	B	.;.;.;.	.;.;.;.	2.563647	0.33207	19.27	0.98600200561967488	0.43493	0.78305	0.38613	D	AEFBI	0.305244	0.41272	N	0.0304841594689505	0.43246	2.62127	0.0130931849935305	0.40320	2.404528	0.0659071927878773	0.15375	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.41	1.36	0.21139	0.189000	0.16845	.	.	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.997000	0.79791	0.458:0.0:0.3615:0.1806	3.296	0.06555	331	0.86429	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.02381	787.98	33	chr2	178454393	.	G	T	787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.699e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-3.450e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F	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	1496	26	0	0	26	0.00861498	.	.	56719	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.49	M	0.2	T	-0.126	T	0.442	T	0.545	3.668	18.64	5.82	2.756	7.923	20.109	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	35	chr2	178545939	.	G	A	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=931;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.043;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr2	178546425	178546425	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67711A:p.D22571N	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	.	.	.	.	.	.	.	.	.	513249	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.993	D	0.911	D	.	.	1.000	D	1.135	L	-0.18	T	-0.396	T	0.340	T	0.12	4.889	28.1	5.81	2.738	7.818	20.080	0.363	0.0257388030203	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs776793953	8.074e-05	8.072e-05	4.085e-05	0.0001	0.0013	6.869e-05	6.422e-05	0.0011	0.0010	0	0	0	0	0	0.0002	8.995e-07	8.283e-05	0.0013	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.057	0.37966	T	.	.	.	0.993	0.65571	D	0.911	0.64720	D	.	.	.	.	1	0.81001	D	1.08	0.27187	L	-0.18	0.65747	T	-3.32	0.69593	D	0.289	0.53181	-0.3963	0.72144	T	0.340	0.70624	T	9	0.07559073	0.11701	T	0.025739	0.48694	D	0.363	0.68319	0.476	0.55342	0.371344866733	0.36741	.	.	0.397505575449	0.40843	0.765936374664	0.76815	T	.	.	.	-0.403193	0.02206	T	-0.392469	0.34263	T	0.190041470599687	0.19847	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-4.888	0.35600	T	.	.	0.273	0.50690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.350464	0.46210	22.3	0.98117374264781754	0.38407	0.98696	0.85696	D	AEFBI	0.919675	0.89054	D	0.741570041224039	0.82354	7.742073	0.783419805281473	0.88617	9.650064	0.999999999999978	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.080	0.97771	483	0.77230	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	2424.98	35	chr2	178546425	.	C	T	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=1027;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=3.28;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G	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	1	1495	24	2	0	28	0.00927767	.	.	56665	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|TTN-related_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	0.86	L	0.46	T	-0.580	T	0.248	T	0.664	3.210	16.75	5.76	2.195	9.339	16.075	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2842.98	45	chr2	178552074	.	A	C	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=989;ExcessHet=0.0000;FS=6.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.304;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr2	178618036	178618036	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.G20120A:p.R6707Q	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	1	1490	30	1	0	32	0.0106242	.	.	56175	not_specified|Tibial_muscular_dystrophy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.574	P	0.195	B	.	.	1.000	D	1.045	L	0.44	T	-0.905	T	0.094	T	0.318	1.514	11.01	4.85	1.560	3.740	15.227	0.113	0.032528423721	0.0034	0.00139776	0.0030	0.0008	0.0011	0	0.0005	0.0047	0.0078	0.0012	0.002956	457	154602	rs72677233	0.0028	0.0028	0.0027	0.0028	0.0123	0.0027	0.0027	0.0100	0.0092	0.0010	0.0019	0.0338	2.534e-05	0.0003	0.0123	0.0022	0.0048	0.0018	0.0029	0.0029	0.0030	0.0028	0.0065	0.0027	0.0026	0.0055	0.0051	0.0003	0	0.0065	0.0268	0	0.0003	0.0102	0.0029	0.0090	0.0025	0.041	0.41915	D	.	.	.	0.574	0.38693	P	0.195	0.36592	B	.	.	.	.	0.982686	0.40539	D	1.19	0.30124	L	0.44	0.56609	T	-2.48	0.57435	N	0.357	0.57177	-0.9047	0.47481	T	0.094	0.35658	T	9	0.005768299	0.00129	T	0.032528	0.54329	D	0.113	0.31778	.	.	0.17948927462	0.17512	.	.	0.150698551403	0.16997	0.373202860355	0.21290	T	.	.	.	-0.424277	0.01607	T	-0.385272	0.35105	T	0.0160674029560302	0.00385	T	0.889111	0.62289	D	.	.	.	.	.	.	.	.	-5.769	0.47923	T	.	.	0.171	0.37482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551671	0.33031	19.22	0.93038762856172696	0.22643	0.83396	0.42516	D	AEFBI	0.432529	0.49437	N	-0.0607603011833923	0.39122	2.302131	0.0403537369006014	0.41609	2.502593	0.999961319595874	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	4.85	0.62375	2.993000	0.49114	.	.	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.0:0.9323:0.0:0.0677	15.227	0.73050	433	0.80627	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2933.98	33	chr2	178618036	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=935;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.440e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1293	20	0	1	0
chr2	178632203	178632203	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon64:c.C16496G:p.S5499C	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	1	1518	3	0	0	3	0.000987167	.	.	449819	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	0.735	N	-0.27	T	-0.276	T	0.384	T	0.501	2.395	13.97	6.03	2.861	9.807	20.557	0.507	0.0120741338723	0.0002	.	6.125e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs377015571	1.236e-05	1.3e-05	1.229e-05	1.243e-05	0.0002	7.72e-06	6.37e-06	6.54e-06	5.04e-06	2.994e-05	0	0	0	0	0.0002	1.172e-05	4.987e-05	0	1.973e-05	1.97e-05	3.854e-05	0	4.412e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.009	0.59928	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.81001	D	1.52	0.38360	L	-0.27	0.67367	T	-3.76	0.72240	D	0.43	0.67908	-0.2763	0.75641	T	0.384	0.73995	T	9	0.2945674	0.47028	T	0.012074	0.30309	T	0.507	0.78786	.	.	0.474876406573	0.47116	.	.	0.458380669649	0.45448	0.546233534813	0.45326	T	.	.	.	-0.081556	0.39462	T	-0.17091	0.57360	T	0.109447616953563	0.13366	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	-2.659	0.06965	T	.	.	0.285	0.51772	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.340641	0.46033	22.2	0.91785959840255715	0.21090	0.99432	0.95955	D	AEFBI	0.961094	0.98219	D	0.806653778161442	0.86520	8.912091	0.862255028835627	0.93711	12.22712	0.999999999999996	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.557	0.99307	432	0.80690	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype	.	.	.	.	.	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	1243.98	34	chr2	178632203	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=810;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.773;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	178672473	178672473	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon149:c.G30961A:p.V10321I	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	1	1515	6	0	0	6	0.00197628	.	.	56074	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Tibial_muscular_dystrophy|not_provided|not_specified	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	1.15	L	-0.09	T	-0.865	T	0.164	T	0.126	1.895	12.29	5.19	2.572	1.143	9.275	0.096	0.0295054330711	0.0029	0.000998403	0.0037	0.0010	0.0011	0	0.0024	0.0060	0.0022	0.0001	0.0034152	528	154602	rs202014478	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0052	0.0009	0.0015	0.0008	0	0.0019	0.0014	0.0053	0.0035	0.0002	0.0028	0.0028	0.0031	0.0025	0.0050	0.0026	0.0025	0.0046	0.0044	0.0006	0	0.0022	0.0012	0	0.0017	0	0.0050	0.0024	0	0.268	0.16144	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	1.195	0.30194	L	-0.09	0.64818	T	-0.28	0.11547	N	0.094	0.07398	-0.8651	0.50893	T	0.164	0.50094	T	9	0.004096329	0.00080	T	0.029505	0.52003	D	0.096	0.27654	.	.	0.370789594751	0.36692	.	.	0.0686030123765	0.07686	0.452790766954	0.32325	T	.	.	.	-0.542035	0.00326	T	-0.549177	0.17406	T	0.00597533625814752	0.00066	T	0.410359	0.10588	T	.	.	.	.	.	.	.	.	-5.304	0.40190	T	.	.	0.096	0.15430	B	.;.;.;.	.;.;.;.	1.993350	0.25328	16.72	0.96129975553843383	0.28802	0.15508	0.18946	N	AEFBI	0.210716	0.33657	N	-0.250046839986206	0.31101	1.740621	-0.122074926401464	0.34501	1.985312	0.00578402891345855	0.11042	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	0.003000	0.12984	.	.	0.549000	0.26987	0.000000	0.06391	1.000000	0.68203	0.976000	0.56436	0.0:0.7969:0.0:0.2031	9.275	0.36855	399	0.82780	.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	1341.98	34	chr2	178672473	.	C	T	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=713;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.66;SOR=0.690	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	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
chr2	178782806	178782806	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon17:c.G2962A:p.V988M	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	.	.	.	.	.	.	.	1.0000	1.0	56075	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Primary_dilated_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Tip-toe_gait|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|.|MedGen:CN239352|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.991	D	0.873	P	.	.	1.000	D	0.975	L	0.14	T	-0.662	T	0.312	T	0.697	3.453	17.70	6.17	2.941	7.792	20.879	0.302	0.616460471336	0.0008	0.000399361	0.0010	0	0.0003	0	0.0021	0.0013	0	0.0007	0.0009379	145	154602	rs142951505	0.0010	0.0010	0.0011	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	5.983e-05	0.0003	0	0	0.0028	0.0002	0.0011	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0001	0	0	0.0013	0	0.0010	0.0005	0.0006	0.041	0.43708	D	0.004	0.74150	D	0.623	0.64070	P	0.525	0.61978	P	.	.	.	.	0.999426	0.51612	D	.	.	.	-0.15	0.65192	T	-1.94	0.52451	N	0.641	0.76019	-0.6625	0.62166	T	0.312	0.68246	T	8	0.046984285	0.03958	T	0.61646	0.96667	D	0.302	0.62290	.	.	0.463157528383	0.45941	.	.	0.188335590607	0.21163	0.490644305944	0.37528	T	.	.	.	-0.178515	0.23955	T	-0.0538277	0.66760	D	0.0447470746144121	0.04555	T	0.970803	0.91380	D	.	.	.	.	.	.	.	.	-7.556	0.58003	D	.	.	0.199	0.42259	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.960830	0.94191	33	0.96827669282607332	0.31252	0.98516	0.83613	D	AEFBI	0.968610	0.99106	D	0.563764598555896	0.70926	5.573547	0.680939127118159	0.80933	7.410401	0.999999999998151	0.74766	0.516011	0.20929	0	0.315538	0.05683	2	0.54472	0.12158	0	0.586402	0.36253	0	.	.	6.17	6.17	0.99707	7.879000	0.85694	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.879	0.99870	361	0.84870	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	941.98	35	chr2	178782806	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.979;SOR=0.719	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1277	20	0	1	0
chr2	199323873	199323873	A	G	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon9:c.T1472C:p.I491T	Glass syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	0.18	T	-0.329	T	0.376	T	0.851	3.904	19.85	5.96	2.285	9.339	16.448	0.568	0.0425703827274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.497e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.15	0.60734	T	-2.26	0.61865	N	0.955	0.97095	-0.3292	0.74156	T	0.376	0.73401	T	10	0.92720294	0.92066	D	0.04257	0.60531	D	0.568	0.82403	0.805	0.92301	0.635899028212	0.63291	0.9604697085027297	0.96032	2.46387727901	0.97434	0.890895605087	0.95371	D	0.479975	0.80916	T	0.261127	0.79633	D	0.137315	0.79369	D	0.908463060855865	0.56306	D	0.992126	0.98962	D	0.41215557	0.61566	0.54178786	0.73517	0.41215557	0.61566	0.54178786	0.73518	-15.097	0.96075	D	0.6709566999866549	0.74590	1.000	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.024745	0.83534	28.1	0.99827830800469564	0.91026	0.99284	0.93939	D	AEFBI	0.927601	0.91051	D	0.846789532133977	0.88924	9.765369	0.849859941436155	0.93007	11.76693	0.999999953588536	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.96	5.96	0.96695	9.325000	0.96006	11.188000	0.88560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.448	0.83801	844	0.36711	CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain;CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT 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	0.04762	76.23	34	chr2	199323873	.	A	G	76.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.278e+00;DP=972;ExcessHet=0.1072;FS=179.814;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.54;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	19	0	2	0
chr2	214809467	214809467	C	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_000465:exon1:c.G103A:p.A35T	.	YES	.	.	.	.	.	.	.	.	.	152693	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.244	B	0.039	B	0.022	N	1.000	D	1.83	L	-0.8	T	-0.586	T	0.395	T	0.134	4.239	22.1	2.16	1.020	0.235	5.003	0.189	0.507807750043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782865	6.856e-07	1.368e-06	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.34800	T	0.395	0.92824	T	0.244	0.31025	B	0.039	0.23607	B	0.021801	0.26758	N	0.409226	0.966421	0.81001	D	1.65	0.42232	L	-0.8	0.85320	T	-0.66	0.19085	N	0.127	0.21449	-0.5864	0.65364	T	0.395	0.74822	T	10	0.17375475	0.32218	T	0.507808	0.95254	D	0.189	0.46613	0.086	0.00867	0.919638224799	0.91882	0.4010686405369734	0.40021	0.169635432466	0.19127	0.727155208588	0.71091	T	0.055216	0.29943	T	-0.0625415	0.42509	T	-0.327613	0.41734	T	0.306891918182373	0.25286	T	0.922308	0.71859	D	0.1703427	0.37603	0.14095776	0.33583	0.1703427	0.37603	0.14095776	0.33582	-4.883	0.37378	T	.	.	0.174	0.52293	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.974323	0.39654	21.0	0.998558161105078	0.93458	0.35967	0.25424	N	ALL	0.108958	0.21658	N	-0.255759901827886	0.30874	1.72569	-0.185048627629466	0.32084	1.821959	0.99999999999724	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	2.16	0.26663	0.244000	0.17899	2.503000	0.33037	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.17:0.6351:0.0:0.1948	5.003	0.13619	869	0.31655	.;.;.;.;.;.;.	.	.	.	.	.	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	1394.98	33	chr2	214809467	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.060e-01;DP=859;ExcessHet=0.0000;FS=3.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.714;SOR=0.453	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	214990845	214990845	T	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon16:c.A2527T:p.M843L	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	612594	Congenital_ichthyosis_of_skin|not_provided|ABCA12-related_disorder	MedGen:C0020758|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.854	P	0.406	B	0.000	D	1.000	D	0.885	L	-1.83	D	-0.338	T	0.335	T	0.676	0.940	8.830	5.91	2.263	5.135	16.347	0.414	0.0207983570593	0.0011	0.00219649	0.0016	0.0026	8.637e-05	0	0	0.0007	0.0011	0.0070	0.0013842	214	154602	rs141077206	0.0007	0.0007	0.0006	0.0009	0.0059	0.0007	0.0007	0.0055	0.0053	0.0017	0.0003	0.0060	0	0	0.0028	0.0002	0.0011	0.0059	0.0011	0.0011	0.0010	0.0011	0.0062	0.0009	0.0009	0.0045	0.0039	0.0019	0	0.0011	0.0043	0	0	0.0034	0.0003	0.0009	0.0062	0.89	0.02483	T	0.286	0.21277	T	0.854	0.47077	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	0.963155	0.38332	D	0.35	0.11930	N	-1.83	0.84122	D	-0.64	0.18670	N	0.519	0.54932	-0.3384	0.73890	T	0.335	0.70223	T	10	0.0123568475	0.00266	T	0.020798	0.43464	T	0.414	0.72479	0.43	0.47843	0.768038034916	0.76591	0.7767034198133183	0.77620	0.233930618868	0.25932	0.53394818306	0.43591	T	0.252747	0.62318	T	-0.187099	0.22685	T	-0.0387803	0.67784	D	0.0445759225380742	0.04524	T	0.814918	0.46941	T	0.42291313	0.62285	0.22326474	0.47199	0.40988615	0.61411	0.25103292	0.50706	-2.465	0.05547	T	0.2979373927463504	0.39509	0.235	0.47016	B	.;.	.;.	3.465486	0.48318	22.6	0.88152865332527308	0.17756	0.92263	0.55310	D	AEFGI	0.511323	0.54000	D	0.00241462213294483	0.41965	2.519734	0.187456525975822	0.49157	3.122493	0.171636058248568	0.17744	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	5.116000	0.64498	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	16.347	0.82972	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1589.98	34	chr2	214990845	.	T	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.111e+00;DP=829;ExcessHet=0.0000;FS=2.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.796e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	20	0	1	0
chr2	215025738	215025738	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon3:c.T268C:p.S90P	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	6	1507	8	1	0	10	0.00330688	.	.	612595	not_provided|ABCA12-related_disorder|Congenital_ichthyosis_of_skin	MedGen:C3661900|.|MedGen:C0020758	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.006	B	0.299	N	1.000	D	0.205	N	0.59	T	-1.094	T	0.058	T	0.196	1.560	11.17	2.28	0.466	0.791	7.240	0.013	.	7.7e-05	0.00259585	0.0015	0	8.655e-05	0	0	0.0002	0.0011	0.0096	0.0012678	196	154602	rs189141015	0.0007	0.0007	0.0004	0.0009	0.0081	0.0007	0.0006	0.0076	0.0074	2.988e-05	0.0004	0	0	0	0.0030	0.0002	0.0008	0.0081	0.0005	0.0005	0.0005	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	4.832e-05	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0091	0.213	0.19430	T	0.243	0.25210	T	0.001	0.09854	B	0.002	0.12133	B	0.298807	0.14635	N	0.659470	0.954376	0.26371	N	0.55	0.14455	N	0.59	0.53943	T	-0.88	0.27876	N	0.192	0.21056	-1.0937	0.04944	T	0.058	0.24167	T	10	0.004335612	0.00088	T	.	.	.	0.013	0.01715	.	.	0.465633601861	0.46191	0.5242788157450186	0.52351	0.230863346288	0.25632	0.37533518672	0.21594	T	0.073936	0.34819	T	-0.514878	0.00471	T	-0.50639	0.21688	T	0.00618400272459661	0.00068	T	0.510149	0.16261	T	0.22495826	0.45148	0.19881599	0.43732	0.21770963	0.44260	0.24011555	0.49377	-4.976	0.36579	T	.	.	0.177	0.38640	B	.;.	.;.	1.742373	0.22170	15.51	0.98008265306819853	0.37536	0.48581	0.28239	N	AEFI	0.153102	0.27790	N	-0.616353740891183	0.18452	0.9581336	-0.430063257629103	0.24120	1.319045	2.67201773703917E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	2.28	0.27583	0.793000	0.26604	1.105000	0.24105	-0.041000	0.17446	0.999000	0.42656	0.472000	0.25058	0.974000	0.55675	0.7505:0.0:0.2495:0.0	7.240	0.25269	868	0.31772	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1174.98	41	chr2	215025738	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=953;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.560;SOR=0.886	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr2	218814752	218814752	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.G1471A:p.A491T,	Cerebrotendinous xanthomatosis, Autosomal recessive	YES	1	1517	3	1	0	5	0.00164528	.	.	588867	not_provided|Cholestanol_storage_disease	MedGen:C3661900|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.17	B	0.053	B	0.677	N	0.945	N	0.75	N	-0.61	T	-0.933	T	0.136	T	0.145	2.602	14.66	-6.59	-0.802	-0.231	8.411	0.150	0.0350283932694	.	.	0.0002	9.86e-05	8.666e-05	0	0	6.029e-05	0.0011	0.0014	0.0002005	31	154602	rs72551323	0.0001	0.0001	9.665e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.676e-05	0.0001	0.0016	5.253e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0008	0.186	0.21467	T	0.856	0.03447	T	0.17	0.28703	B	0.053	0.25678	B	0.676874	0.10292	N	0.865163	0.945027	0.26673	N	0.405	0.12330	N	-0.61	0.71779	T	-1.02	0.26843	N	0.124	0.11626	-0.9334	0.43636	T	0.136	0.45203	T	10	0.040766925	0.02674	T	0.035028	0.56072	D	0.150	0.39571	0.703	0.83962	0.548274029423	0.54483	0.6164338760507196	0.61575	0.18806904077	0.21130	0.286449611187	0.08407	T	0.271663	0.64401	T	-0.470155	0.00848	T	-0.4782	0.24638	T	0.0231964028690463	0.01046	T	0.749925	0.37107	T	0.05457275	0.10490	0.07379493	0.16076	0.05457275	0.10489	0.07379493	0.16075	-3.884	0.22062	T	.	.	0.068	0.02894	B	.	.	0.901670	0.12757	9.275	0.97515636428330377	0.34373	0.15099	0.18744	N	AEFDBI	0.631413	0.61240	D	-0.984637699777554	0.08931	0.4206902	-0.983030221775649	0.10166	0.5103083	0.947871977666594	0.27774	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-6.59	0.01663	-0.570000	0.05986	0.483000	0.18825	0.676000	0.76740	0.000000	0.06391	0.977000	0.30130	0.948000	0.49324	0.1032:0.0:0.4554:0.4414	8.411	0.31801	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2151.98	33	chr2	218814752	.	G	A	2151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-1.115e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr2	227290795	227290795	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.G3119C:p.R1040T,	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.007	B	0.007	B	0.143	N	0.914	N	0.93	L	-3.35	D	-0.452	T	0.569	D	0.297	0.621	7.342	2.8	0.431	-0.019	4.516	0.220	0.0626756258039	.	0.000199681	8.368e-06	0	8.714e-05	0	0	0	0	0	1.29e-05	2	154602	rs187864249	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0001	2.36e-06	1.7e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.613	0.05567	T	0.43	0.13713	T	0.007	0.14184	B	0.007	0.12992	B	0.142887	0.18229	N	0.554792	0.913764	0.27449	N	-0.09	0.04745	N	-3.35	0.94022	D	-0.91	0.24460	N	0.261	0.29544	-0.4516	0.70348	T	0.569	0.84399	D	10	0.062354624	0.07959	T	0.062676	0.68726	D	0.220	0.51569	.	.	0.737894262927	0.73554	0.2737578506257544	0.27288	0.278499169253	0.30333	0.290980368853	0.09064	T	0.391941	0.75174	T	-0.103614	0.35826	T	-0.210764	0.53623	T	0.0512844324111938	0.05724	T	0.653935	0.28269	T	0.1401483	0.32346	0.061159924	0.11765	0.1401483	0.32346	0.061159924	0.11765	-3.479	0.16139	T	0.12110335199337476	0.11458	0.090	0.48978	B	.;.	.;.	1.794073	0.22807	15.77	0.73085365237829358	0.10201	0.55893	0.29979	D	AEFDI	0.135999	0.25651	N	-0.433467824330809	0.24303	1.311349	-0.276661272130024	0.28868	1.612967	0.00169053823228202	0.08780	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	2.8	0.31881	-0.237000	0.09007	3.299000	0.37367	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.995000	0.73285	0.0786:0.2873:0.4859:0.1482	4.516	0.11342	887	0.27948	.;.	.	.	.	.	.	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	1690.98	34	chr2	227290795	.	G	C	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.359e+00;DP=852;ExcessHet=0.0000;FS=2.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.675;SOR=0.520	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1176	20	0	1	0
chr2	229860502	229860502	C	T	exonic	TRIP12	.	nonsynonymous SNV	TRIP12:NM_001284214:exon3:c.G128A:p.G43E	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.007	B	0.423	U	1.000	N	.	.	0.99	T	-1.088	T	0.054	T	0.213	1.989	12.61	4.04	1.485	5.644	14.793	0.100	0.0197008256156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	2.729e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.66e-05	0	6.576e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.757	0.29823	T	0.663	0.35082	T	.	.	.	.	.	.	0.422779	0.12848	U	0.595364	1	0.81001	D	.	.	.	0.99	0.41750	T	0.05	0.11913	N	0.415	0.45520	-1.0884	0.05804	T	0.054	0.22693	T	9	0.105422735	0.19485	T	0.019701	0.42129	T	0.100	0.28662	0.208	0.12497	0.123314135267	0.11883	0.1507100083719627	0.14992	.	.	.	.	.	0.013644	0.11764	T	-0.177382	0.24125	T	-0.492574	0.23121	T	0.801223576068878	0.46437	D	0.942406	0.78384	D	.	.	.	.	.	.	.	.	-3.247	0.13063	T	.	.	0.199	0.42156	B	.;.;.	.;.;.	4.051384	0.60059	24.2	0.91876856545820851	0.21193	0.85352	0.44476	D	AEFBHCI	0.511462	0.54008	D	-0.365632862297649	0.26702	1.459309	-0.161704188585788	0.32959	1.880461	0.998489645413268	0.37052	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.89	4.04	0.46262	5.748000	0.68333	5.075000	0.47214	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.4391:0.5609:0.0	14.793	0.69482	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1006.98	37	chr2	229860502	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=766;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.259;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1053	20	0	1	0
chr2	232819834	232819834	C	T	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon20:c.C2360T:p.A787V	.	YES	3	1518	0	1	0	2	0.000658328	.	.	213536	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to|not_provided	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.965	D	0.722	P	0.000	D	1.000	D	1.245	L	-1.05	T	-0.209	T	0.448	T	0.381	3.660	18.60	5.04	2.333	6.007	18.385	0.361	0.0940817379065	.	.	2.61e-05	0	0	0	0	4.74e-05	0	0	2.59e-05	4	154602	rs748538823	5.936e-05	6.668e-05	6.085e-05	5.786e-05	0.0059	4.756e-05	4.352e-05	0.0041	0.0035	8.053e-05	0.0001	5.804e-05	0	0	0.0059	3.389e-05	0.0001	2.469e-05	5.961e-05	6.407e-05	3.148e-05	9.276e-05	0.0003	2.773e-05	1.889e-05	3.158e-05	2.012e-05	0	0	0.0001	0	0	0	0	8.077e-05	0	0.0003	0.043	0.46513	D	0.25	0.24123	T	0.888	0.48822	P	0.3	0.41053	B	0.000000	0.84330	D	0.051269	0.999999	0.58761	D	.	.	.	-1.05	0.76690	T	-0.92	0.27669	N	0.507	0.53884	-0.2087	0.77447	T	0.448	0.78336	T	10	0.31536648	0.48969	T	0.094082	0.76188	D	0.361	0.68141	.	.	0.292174397486	0.28832	0.1570317945368268	0.15624	0.302835185573	0.32607	0.783016264439	0.79384	T	0.12152	0.44453	T	-0.0871847	0.38541	T	-0.176474	0.56848	T	0.341248321631318	0.26673	T	0.948505	0.92647	D	0.3058027	0.53420	0.19343862	0.42913	0.26395226	0.49461	0.16504398	0.38201	-6.648	0.51418	T	.	.	0.194	0.42834	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.721988	0.75965	26.4	0.99710176912624282	0.81283	0.99464	0.96353	D	AEFBI	0.726708	0.67528	D	0.353107381105094	0.58902	4.065608	0.411998168311791	0.62312	4.44446	0.999999893934508	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.04	5.04	0.67293	5.062000	0.64156	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.385	0.90408	810	0.42761	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025	731.33	66	chr2	232819834	.	C	T	731.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.172e+00;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.150e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/0:76,0:76:75:0,75,2637	19	0	1	1
chr2	233335071	233335071	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.G916A:p.E306K,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	YES	0	1521	1	0	0	1	0.000328623	.	.	2749233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.994	D	0.000	D	1.000	D	2.84	M	3.11	T	-1.022	T	0.088	T	0.672	4.828	27.4	4.57	2.542	9.192	16.687	0.275	0.0321503963129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs397514682	1.232e-05	1.231e-05	5.446e-06	1.926e-05	0.0002	7.7e-06	6.35e-06	6.246e-05	4.757e-05	0	0	0	5.038e-05	0	0.0002	2.698e-06	3.313e-05	0.0001	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	3.11	0.08194	T	-3.37	0.66665	D	0.907	0.90818	-1.0220	0.23063	T	0.088	0.34133	T	10	0.7971338	0.79171	D	0.03215	0.54051	D	0.275	0.59130	0.539	0.65018	0.703980281492	0.70141	0.7037248417315666	0.70313	0.587072184464	0.54300	0.818653285503	0.84822	D	0.382201	0.74434	T	-0.124582	0.32377	T	-0.235202	0.51265	T	0.973209202289581	0.70002	D	.	.	.	0.5053662	0.67409	0.42527598	0.66341	0.5053662	0.67410	0.42527598	0.66341	-11.78	0.83762	D	.	.	0.309	0.53671	B	.	.	5.541562	0.91968	32	0.99925017486802559	0.99042	0.96012	0.67135	D	AEFBCI	0.915787	0.88107	D	0.85607533802623	0.89452	9.977384	0.771396448962076	0.87744	9.329313	0.999999999992292	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	16.687	0.85170	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like 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	860.98	34	chr2	233335071	.	G	A	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.160e-01;DP=782;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-2.550e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	20	0	1	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N,	Hyperoxaluria, primary, type 1, Autosomal recessive	YES	4	1474	42	2	0	46	0.0153641	.	.	200420	not_specified|not_provided|Primary_hyperoxaluria,_type_I	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.002	B	0.022	B	0.291	N	1.000	N	1.04	L	-2.5	D	-0.556	T	0.408	T	0.101	0.279	5.511	1.4	0.313	0.633	9.964	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	583.98	34	chr2	240868891	.	C	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=747;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.25;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	20	0	1	0
chr3	10074669	10074669	C	A	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001374253:exon28:c.C2744A:p.T915N	Fanconi anemia, complementation group D2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.993	D	0.000	D	1.000	D	2.43	M	0.58	T	-0.306	T	0.367	T	0.441	4.733	26.4	5.8	2.749	5.048	17.616	0.270	0.036632438589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481456752	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.999	0.77913	D	0.993	0.81110	D	0.000006	0.62929	D	0.141980	0.999197	0.46300	D	2.695	0.78878	M	0.58	0.54149	T	-2.37	0.52289	N	0.652	0.66272	-0.3065	0.74804	T	0.367	0.72720	T	10	0.74863136	0.75472	D	0.036632	0.57117	D	0.270	0.58507	0.51	0.60693	0.879419312157	0.87824	0.40073875540640486	0.39988	0.649232544592	0.58242	0.665853738785	0.62247	T	0.106323	0.41757	T	-0.0115303	0.50052	T	-0.254339	0.49387	T	0.946915507316589	0.62570	D	0.880612	0.59878	D	0.32418346	0.54991	0.34347343	0.60059	0.32418346	0.54991	0.34347343	0.60058	-4.12	0.25951	T	0.4946702601398571	0.57093	0.393	0.59165	A	.;.;.	.;.;.	4.282624	0.65252	24.8	0.99323261278497721	0.59469	0.97658	0.76213	D	AEFGBI	0.616213	0.60285	D	0.828305252077832	0.87841	9.359677	0.806702525481897	0.90255	10.32498	0.9999999967267	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	5.061000	0.64149	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.616	0.87969	344	0.85734	.;.;.	.	.	.	.	.	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	808.98	33	chr3	10074669	.	C	A	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=758;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.144;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,965	20	0	1	0
chr3	14158883	14158883	G	A	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.C421T:p.P141S	Xeroderma pigmentosum, group C, Autosomal recessive	YES	1	1516	4	1	0	6	0.00197498	.	.	139226	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum,_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.001	B	0.083	N	1.000	N	0.41	N	1.37	T	-1.044	T	0.039	T	0.231	-1.402	0.023	-3.43	-0.486	-0.104	2.394	0.015	0.00193231407746	.	0.00179712	0.0011	0	8.648e-05	0	0	0	0.0011	0.0077	0.0009185	142	154602	rs200338014	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0	0	0	0	0.0003	2.698e-06	0.0003	0.0078	0.0003	0.0003	0.0002	0.0003	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0.0005	0.0081	0.787	0.03227	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	0.082739	0.02372	N	1.773620	1	0.08975	N	0.4	0.12274	N	1.35	0.34648	T	-0.08	0.08187	N	0.055	0.02658	-1.0437	0.16207	T	0.039	0.16849	T	10	0.0026124418	0.00040	T	0.001932	0.03430	T	0.015	0.02232	0.386	0.40624	0.0297737177859	0.01360	0.22477308295976878	0.22392	0.119809200928	0.13497	0.241421490908	0.02919	T	0.051342	0.28851	T	-0.58392	0.00182	T	-0.606269	0.12291	T	0.00780555975000651	0.00091	T	0.591441	0.21800	T	0.01940693	0.00470	0.024562404	0.00478	0.01940693	0.00470	0.024562404	0.00478	-2.717	0.07447	T	0.16257424392448722	0.19979	0.071	0.04002	B	.	.	0.158344	0.05491	1.958	0.2189063025523218	0.00855	0.05638	0.11549	N	AEFBI	0.025928	0.01857	N	-1.53395475932852	0.01631	0.07129957	-1.53106289329479	0.02109	0.09650543	0.939616099690286	0.27395	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	-3.43	0.04507	0.035000	0.13685	0.241000	0.16308	-0.633000	0.04490	0.317000	0.25476	0.005000	0.19230	0.577000	0.30821	0.4767:0.103:0.2605:0.1598	2.394	0.04117	789	0.46346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	451.98	38	chr3	14158883	.	G	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=775;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=0.546;SOR=0.974	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	20	0	1	0
chr3	15451673	15451673	C	T	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_080539:exon16:c.G1237A:p.D413N	Myasthenic syndrome, congenital, 5, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	631002	Congenital_myasthenic_syndrome_5	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.255	M	-3.28	D	1.012	D	0.908	D	0.274	4.790	27.0	5.49	2.574	7.173	19.361	0.783	0.613245393386	.	.	1.648e-05	0	8.639e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs770753693	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0001	8.94e-06	7.26e-06	4.907e-05	3.165e-05	0	6.708e-05	0	0.0001	0	0	6.295e-06	3.312e-05	3.478e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.92359	D	0.000000	0.84330	D	0.046027	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.52	0.60507	D	0.691	0.90476	1.012	0.97389	D	0.908	0.96949	D	10	0.83328635	0.82488	D	0.613245	0.96630	D	0.783	0.92787	.	.	0.982093447026	0.98190	0.7548930069117097	0.75436	0.0949871506179	0.10726	0.73571228981	0.72342	T	0.50555	0.82414	D	-0.0501656	0.44421	T	-0.0176871	0.69181	D	0.386661409556021	0.28437	T	0.934707	0.75876	D	0.62252843	0.73899	0.5722859	0.75229	0.62252843	0.73900	0.5722859	0.75229	-7.024	0.54209	T	0.6396002771396248	0.71011	0.223	0.47632	B	.;.;.;.	.;.;.;.	5.426590	0.90767	31	0.99888928951962375	0.96359	0.98669	0.85367	D	AEFI	0.879865	0.80610	D	0.828683388508142	0.87864	9.367681	0.806621333846898	0.90248	10.322	0.999999999998764	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.442000	0.79626	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.361	0.94428	527	0.73864	.;.;.;.	.	.	.	.	.	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	1005.98	35	chr3	15451673	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=786;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-8.090e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	23919344	23919344	A	G	exonic	RPL15	.	nonsynonymous SNV	RPL15:NM_001253380:exon3:c.A458G:p.K153R	.	YES	435	1080	6	1	0	8	0.00369004	.	.	1386712	not_provided|Diamond-Blackfan_anemia_12	MedGen:C3661900|MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.01	B	0.000	U	1.000	D	1.02	L	.	.	-0.952	T	0.143	T	0.635	2.800	15.33	5.78	2.212	4.332	11.866	0.139	.	8e-05	0.00199681	0.0002	0.0001	0	0	0	0.0001	0.0012	0.0008	0.0003842	10	26028	rs370700905	9.859e-05	9.85e-05	8.648e-05	0.0001	0.0015	8.51e-05	7.983e-05	0.0008	0.0008	2.989e-05	4.472e-05	0	0	0	0.0015	3.328e-05	0.0001	0.0010	0.0001	0.0001	0.0001	0.0002	0.0025	9.142e-05	7.699e-05	0.0014	0.0011	0	0	0.0001	0	0	0	0	0.0001	0	0.0025	0.113	0.28772	T	0.198	0.27767	T	0.0	0.02946	B	0.01	0.14941	B	0.000001	0.84330	U	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	-1.3	0.36189	N	0.105	0.20129	-0.9517	0.40678	T	0.143	0.46422	T	9	0.013277203	0.00282	T	.	.	.	0.139	0.37390	.	.	0.705982711757	0.70342	0.4633412032959153	0.46253	1.28606242572	0.82666	0.723759055138	0.70595	T	0.144562	0.48124	T	-0.153842	0.27712	T	-0.116029	0.62127	T	0.0492620211402408	0.05370	T	0.877512	0.59164	D	0.15134814	0.34411	0.15274343	0.35924	0.16758646	0.37164	0.17138503	0.39317	-4.254	0.27527	T	0.3662132910263056	0.46219	0.077	0.12985	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.033164	0.40636	21.2	0.99731426161504688	0.82833	0.91925	0.54561	D	AEFDBHCI	0.902188	0.84977	D	-0.0224637617873429	0.40841	2.432322	0.176885967234947	0.48583	3.072311	0.99999999701248	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.78	5.78	0.91418	4.326000	0.59028	4.449000	0.43415	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.8693:0.0:0.0:0.1307	11.866	0.51770	583	0.69484	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	323.98	27	chr3	23919344	.	A	G	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.065e+00;DP=605;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.39;MQRankSum=-1.180e+00;QD=7.90;ReadPosRankSum=-7.360e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1107	20	0	1	0
chr3	25501231	25501231	G	A	exonic	RARB	.	nonsynonymous SNV	RARB:NM_000965:exon3:c.G356A:p.R119Q	Microphthalmia, syndromic 12, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2718054	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.884	P	0.655	P	0.000	D	1.000	D	2.025	M	-4.28	D	0.996	D	0.911	D	0.761	5.410	34	4.98	2.286	9.869	18.263	0.774	0.25960318637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292531557	7.55e-06	7.524e-06	6.829e-06	8.279e-06	0.0002	4.05e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.105e-06	0	1.174e-05	6.581e-06	6.569e-06	1.286e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.071	0.39575	T	0.086	0.47828	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999978	0.58761	D	.	.	.	-4.28	0.97126	D	-3.31	0.65972	D	0.718	0.72299	0.996	0.97117	D	0.911	0.97046	D	10	0.85134387	0.84314	D	0.259603	0.89452	D	0.774	0.92419	0.62	0.75461	0.951177786065	0.95066	0.6641327596026594	0.66350	1.66441580669	0.89733	0.896315395832	0.96021	D	0.707943	0.91646	D	0.347536	0.86340	D	0.261435	0.86161	D	0.966794729232788	0.67698	D	0.911709	0.69499	D	.	.	.	.	.	.	.	.	-10.903	0.97270	D	.	.	0.730	0.74215	P	.;.;.;.	.;.;.;.	5.571965	0.92227	32	0.99957879315708476	0.99986	0.98791	0.86901	D	AEFBIJ	0.910625	0.86878	D	0.650071541545031	0.76371	6.474501	0.677397285497649	0.80665	7.349764	0.999999999999035	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	10.003000	0.99689	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.263	0.89979	924	0.18029	Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1726.98	35	chr3	25501231	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=851;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.130e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr3	25729293	25729293	C	G	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.G1397C:p.C466S	Congenital disorder of deglycosylation, Autosomal recessive	YES	457	1062	2	1	0	4	0.0018797	.	.	698016	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	D	-2.255	N	1.68	T	-0.923	T	0.014	T	0.073	-0.118	3.423	4.01	0.778	5.142	16.488	0.110	.	.	0.00239617	0.0012	0	9.311e-05	0	0	1.66e-05	0	0.0092	0.000925	143	154602	rs544148699	0.0004	0.0004	0.0002	0.0005	0.0073	0.0003	0.0003	0.0067	0.0065	3.519e-05	0	0	0	0	0.0002	3.909e-06	0.0005	0.0073	0.0003	0.0003	6.434e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.409e-05	0	0	0	0	0	0	1.471e-05	0	0.0089	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000318	0.45977	N	0.258363	1	0.81001	D	-2.625	0.00040	N	1.68	0.27184	T	3.01	0.00194	N	0.099	0.10340	-0.9226	0.45196	T	0.014	0.05513	T	10	0.003987968	0.00077	T	.	.	.	0.110	0.31079	0.348	0.34436	0.176091768786	0.17195	0.36148572991701877	0.36062	0.0409017552141	0.04391	0.327602118254	0.14573	T	0.055066	0.29901	T	-0.613049	0.00121	T	-0.648813	0.09037	T	0.028942596615783	0.01828	T	0.532447	0.17709	T	0.05568484	0.10857	0.09527911	0.22589	0.04454942	0.07139	0.13820341	0.33011	-0.255	0.00453	T	0.021100557286842715	0.00008	0.054	0.00354	B	.;.;.;.;.	.;.;.;.;.	1.892893	0.24040	16.25	0.47006326778865609	0.03810	0.15211	0.18799	N	AEFBI	0.045898	0.07560	N	-0.849770547720229	0.12055	0.5853409	-0.511145068539721	0.21850	1.183995	0.999999044205979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	4.01	0.45821	5.274000	0.65380	5.152000	0.47759	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2497:0.7503:0.0	16.488	0.84036	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1551.98	34	chr3	25729293	.	C	G	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.892e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=1.87;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1221	20	0	1	0
chr3	25729308	25729308	G	A	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.C1382T:p.T461I	Congenital disorder of deglycosylation, Autosomal recessive	YES	492	1026	2	2	0	6	0.00291545	.	.	698017	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.004	B	0.844	N	1.000	N	-0.345	N	1.59	T	-0.991	T	0.027	T	0.136	-0.079	3.614	-0.623	-0.117	0.142	3.819	0.080	.	.	0.00239617	0.0012	0	0.0001	0	0	1.845e-05	0	0.0099	0.0006916	18	26028	rs564037973	0.0003	0.0004	0.0002	0.0004	0.0076	0.0003	0.0003	0.0069	0.0067	3.864e-05	0	0	0	0	0.0002	4.043e-06	0.0005	0.0076	0.0003	0.0003	6.437e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.412e-05	0	0	0	0	0	0	1.472e-05	0	0.0089	0.33	0.13971	T	0.433	0.13595	T	0.001	0.07471	B	0.002	0.10090	B	0.844252	0.09011	N	0.942866	1	0.08975	N	0.705	0.18577	N	1.59	0.28836	T	-0.69	0.26200	N	0.164	0.17278	-0.9908	0.32398	T	0.027	0.11529	T	10	0.0030286908	0.00050	T	.	.	.	0.080	0.23350	0.595	0.72494	0.158396225186	0.15383	0.4291067421249582	0.42827	0.0377771353946	0.04010	0.357819229364	0.19067	T	0.059294	0.31076	T	-0.608345	0.00130	T	-0.642057	0.09520	T	0.00630600466582451	0.00070	T	0.741726	0.36078	T	0.017878447	0.00312	0.023690661	0.00382	0.019630216	0.00497	0.028196817	0.01033	-3.763	0.23563	T	0.14163011860036773	0.15948	0.083	0.09868	B	.;.;.;.;.	.;.;.;.;.	1.105629	0.14901	11.43	0.75644256329152415	0.11155	0.02817	0.07550	N	AEFBI	0.055207	0.10103	N	-1.07318041862596	0.07141	0.3308332	-1.01347629559088	0.09488	0.4723471	0.98303858940737	0.30494	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	-0.623	0.10976	0.097000	0.15007	1.444000	0.26551	0.676000	0.76740	0.001000	0.13787	0.870000	0.27582	0.848000	0.40082	0.4403:0.0:0.2844:0.2752	3.819	0.08343	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1401.98	34	chr3	25729308	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.262e+00;DP=764;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.45;ReadPosRankSum=1.54;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1221	20	0	1	0
chr3	33051775	33051775	T	C	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon6:c.A545G:p.N182S	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1881717	GM1_gangliosidosis|Mucopolysaccharidosis,_MPS-IV-B	MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.957	D	0.000	D	1.000	D	2.065	M	-5.24	D	1.099	D	0.960	D	0.235	4.726	26.3	5.71	2.172	7.581	15.650	0.837	0.238503213061	.	.	8.317e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs781080459	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.42199	D	0.046	0.53426	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.24	0.98905	D	-4.25	0.79316	D	0.934	0.93959	1.099	0.99607	D	0.960	0.98707	D	10	0.9799812	0.97948	D	0.238503	0.88590	D	0.837	0.94877	0.947	0.99346	0.997450325136	0.99742	0.9297148710068579	0.92949	0.472138376322	0.46452	0.577498972416	0.49734	T	0.709504	0.91702	D	0.161464	0.70337	D	-0.00584422	0.69957	D	0.956986546516418	0.64895	D	0.952005	0.94289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.27732	B	.;.;.;.	.;.;.;.	4.197151	0.63305	24.6	0.9986227672858532	0.94093	0.99190	0.92559	D	AEFBI	0.955592	0.97354	D	0.755680592968838	0.83276	7.974788	0.752951828765005	0.86377	8.869797	0.999999999996419	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	7.629000	0.82391	7.918000	0.74374	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.650	0.76836	762	0.50290	.;.;Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1361.98	42	chr3	33051775	.	T	C	1361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=856;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.298e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,991	20	0	1	0
chr3	37012090	37012090	C	T	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354629:exon7:c.C569T:p.A190V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	483577	Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Colorectal_cancer,_hereditary_nonpolyposis,_type_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.567	P	0.366	B	0.000	D	1.000	D	2.57	M	-2.82	D	0.603	D	0.741	D	0.741	4.248	22.1	4.88	2.736	5.702	14.207	0.726	0.0749329687328	.	.	2.477e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs756045117	1.44e-05	1.71e-05	4.094e-06	2.48e-05	0.0002	9.25e-06	7.85e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.658e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.17	0.38891	T	0.169	0.28678	B	0.178	0.35748	B	0.000008	0.62929	D	0.109676	1	0.81001	D	2.86	0.83026	M	-2.82	0.91192	D	-2.3	0.51157	N	0.435	0.48689	0.603	0.91943	D	0.741	0.91163	D	10	0.40252653	0.55667	T	0.074933	0.72164	D	0.726	0.90369	0.54	0.65161	0.898972531329	0.89797	0.5466586471506504	0.54591	0.102845666974	0.11638	0.612879633904	0.54722	T	0.690939	0.91013	D	0.0932745	0.63555	D	0.155885	0.80553	D	0.833164870738983	0.48778	D	0.964204	0.87634	D	0.40150243	0.60836	0.37823826	0.62906	0.40150243	0.60837	0.37823826	0.62906	-5.73	0.53181	T	0.25121524083131136	0.33995	0.096	0.16800	B	.;.	.;.	4.235274	0.64170	24.7	0.99831333125424948	0.91284	0.97837	0.77499	D	AEFBI	0.747239	0.68936	D	0.42868007069212	0.63005	4.526162	0.515356190392626	0.69022	5.301403	0.999999928680741	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	4.88	0.63131	5.820000	0.68932	5.832000	0.50172	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.207	0.65281	253	0.90069	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1868.98	39	chr3	37012090	.	C	T	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.488e+00;DP=920;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-2.430e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	37048583	37048583	A	G	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354625:exon14:c.A889G:p.I297V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	50076	Mismatch_repair_cancer_syndrome_1|Muir-Torré_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided|Endometrial_carcinoma|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified	MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MeSH:D003123,MedGen:C0009405|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.77	T	0.007	B	0.016	B	0.000	D	0.999	N	0.41	N	-2.5	D	-0.861	T	0.265	T	0.517	2.111	13.02	0.59	-0.109	1.902	2.206	0.354	0.0207054543117	0.0032	0.00259585	0.0010	0.0083	0.0007	0	0	0.0005	0	0	0.0009896	153	154602	rs55907433	0.0005	0.0005	0.0006	0.0005	0.0097	0.0005	0.0005	0.0088	0.0085	0.0097	0.0007	0.0075	0	0	0.0026	7.376e-05	0.0015	5.797e-05	0.0028	0.0028	0.0029	0.0027	0.0086	0.0026	0.0025	0.0079	0.0076	0.0086	0	0.0010	0.0112	0	0	0.0034	0.0002	0.0019	0	0.74	0.48642	T	0.456	0.12740	T	0.0	0.02946	B	0.003	0.08700	B	0.000006	0.62929	D	0.169045	0.999767	0.22064	N	0.405	0.12330	N	-2.5	0.89219	D	-0.17	0.11366	N	0.821	0.81658	-0.8605	0.51227	T	0.265	0.63663	T	10	0.013260722	0.00282	T	0.020705	0.43358	T	0.354	0.67510	.	.	0.901459932798	0.90048	0.273864424661466	0.27299	0.0575164109144	0.06368	0.321152627468	0.13597	T	0.504615	0.82362	D	-0.262912	0.12561	T	-0.143467	0.59815	T	0.00240062695342619	0.00025	T	0.813119	0.46553	T	0.04714217	0.08008	0.04516058	0.06014	0.069246896	0.15154	0.030109012	0.01426	-3.305	0.25098	T	0.13712361065274772	0.15058	0.064	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	1.662612	0.21203	15.10	0.96158690488055443	0.28890	0.78569	0.38783	D	AEFBCI	0.229315	0.35285	N	-0.800236246641248	0.13305	0.6544608	-0.630302471600393	0.18716	1.001059	0.706628753818308	0.22767	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	0.59	0.16642	1.917000	0.39626	0.879000	0.22379	-0.050000	0.17177	0.886000	0.31111	0.013000	0.20296	0.994000	0.71098	0.5115:0.2436:0.1279:0.1169	2.206	0.03695	154	0.93967	DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2832.98	33	chr3	37048583	.	A	G	2832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.65;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.11;SOR=0.713	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1345	20	0	1	0
chr3	46860813	46860813	G	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C170A:p.A57D,	Cardiomyopathy, hypertrophic, 8	YES	0	1519	2	0	1	3	0.000657895	.	.	52291	not_provided|Primary_familial_hypertrophic_cardiomyopathy|Long_QT_syndrome|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy_8	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.855	H	-2.07	D	1.017	D	0.874	D	0.817	4.806	27.2	4.36	2.415	7.826	14.794	0.887	0.334127719381	.	0.000199681	0.0001	0	8.64e-05	0.0003	0	7.498e-05	0	0.0003	0.0001035	16	154602	rs139794067	0.0001	0.0001	9.392e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	2.987e-05	2.236e-05	0.0002	0.0002	1.873e-05	0.0016	6.475e-05	0.0003	0.0006	0.0001	0.0001	0.0002	0.0001	0.0005	8.665e-05	7.257e-05	0.0003	0.0002	2.408e-05	0	0.0005	0	0.0004	0	0	8.824e-05	0.0005	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.675	0.99424	H	-2.07	0.85943	D	-5.24	0.83967	D	0.948	0.95608	1.017	0.97484	D	0.874	0.95800	D	10	0.8601358	0.85229	D	0.334128	0.91834	D	0.887	0.96725	0.609	0.74182	0.911396127066	0.91050	0.9180211833213052	0.91778	1.37316763178	0.84586	0.740424573421	0.73036	T	0.832211	0.96005	D	0.089004	0.63078	D	0.239503	0.85124	D	0.836173832416534	0.49018	D	0.775222	0.40690	T	0.94658726	0.95918	0.8868588	0.94045	0.94786704	0.96049	0.9072095	0.95490	-14.337	0.94100	D	0.5562322403670272	0.62435	0.990	0.93538	P	.;.	.;.	5.252082	0.88183	29.5	0.99698610453873182	0.80453	0.98008	0.78831	D	AEFDBCI	0.978123	0.99754	D	1.0578397734241	0.97271	15.85376	0.901658909791623	0.95643	13.82304	0.999999999999284	0.74766	0.525926	0.21836	0	0.573078	0.20572	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	8.154000	0.89585	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.794	0.69488	138	0.94518	EF-hand domain;EF-hand domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2797.98	34	chr3	46860813	.	G	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=968;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.821;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr3	48564798	48564798	G	A	exonic	COL7A1	.	stopgain	COL7A1:NM_000094:exon118:c.C8803T:p.Q2935X,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	985813	Epidermolysis_bullosa_pruriginosa|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.680	N	0.969	D	.	.	.	.	.	.	.	.	.	15.354	49	5.62	2.651	1.994	12.831	.	.	.	.	6.047e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs767051948	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0005	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.679995	0.10267	N	0.809286	0.781941	0.38731	D	.	.	.	.	.	.	.	.	.	0.692	0.69737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156219	0.69849	D	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.596376	0.96676	36	0.98683629546127405	0.44652	0.77277	0.37977	D	AEFDGBCI	0.174612	0.30175	N	0.506190872044613	0.67454	5.083947	0.290053345780797	0.54956	3.659417	0.999999901615366	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.62	5.62	0.85714	2.372000	0.43911	3.759000	0.39711	-0.108000	0.15293	0.873000	0.30851	1.000000	0.68203	0.008000	0.08271	0.0:0.1641:0.8358:0.0	12.831	0.57128	12	0.98946	.	.	.	.	.	.	Pathogenic	1	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	967.98	33	chr3	48564798	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=731;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.841;SOR=1.333	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	20	0	1	0
chr3	49099511	49099511	G	A	exonic	QARS1	.	nonsynonymous SNV	QARS1:NM_001272073:exon16:c.C1492T:p.R498W	.	YES	436	1085	1	0	0	1	0.000460617	0.9919	0.844	500312	Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome|not_provided	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.64	L	1.84	T	-1.007	T	0.127	T	0.775	3.987	20.4	4.54	2.770	4.242	13.668	0.227	.	.	0.00299521	0.0013	9.61e-05	0	0.0001	0	0	0	0.0093	0.0011255	174	154602	rs553194272	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.993e-06	0.0005	0.0082	0.0003	0.0003	0.0002	0.0003	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0083	0.006	0.61437	D	0.01	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044597	0.99999	0.58761	D	1.705	0.44259	L	1.84	0.24656	T	-4.07	0.76822	D	0.865	0.88356	-1.0067	0.27943	T	0.127	0.43401	T	10	0.014571607	0.00306	T	.	.	.	0.227	0.52620	.	.	0.62543842953	0.62239	0.8331987719652475	0.83278	1.05892359154	0.76413	0.815172672272	0.84286	D	0.710045	0.91722	D	-0.275067	0.11199	T	-0.161494	0.58218	T	0.0841564782459829	0.10509	T	0.995834	0.98556	D	0.633909	0.74507	0.36900297	0.62179	0.62762743	0.74172	0.3628885	0.61685	-8.349	0.63825	D	.	.	0.221	0.47481	B	.;.;.;.	.;.;.;.	5.649312	0.92799	33	0.99899131172456357	0.97124	0.88858	0.48992	D	AEFBCI	0.856393	0.77362	D	0.687829418657261	0.78835	6.952282	0.679437843583526	0.80822	7.384667	0.999452224493582	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	4.54	0.55220	4.268000	0.58681	4.228000	0.42634	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.7189:0.2811	13.668	0.61883	0	0.99858	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;.;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	2802.98	34	chr3	49099511	.	G	A	2802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=2.25;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr3	57198277	57198277	G	A	exonic	HESX1	.	nonsynonymous SNV	HESX1:NM_003865:exon4:c.C478T:p.R160C	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	22730	Septo-optic_dysplasia_sequence	Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	5.375	H	-4.38	D	0.895	D	0.993	D	0.986	3.602	18.34	5.25	2.619	5.917	19.217	0.912	0.7185837252	.	.	8.292e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs28936702	1.849e-05	1.915e-05	1.635e-05	2.065e-05	3.483e-05	1.266e-05	1.085e-05	1.296e-05	1.107e-05	0	0	3.83e-05	0	0	0	1.98e-05	1.658e-05	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	4.12	0.97420	H	-5.73	0.99303	D	-7.53	0.95131	D	0.807	0.80278	0.895	0.95608	D	0.993	0.99830	D	9	0.990981	0.99615	D	0.718584	0.97721	D	0.912	0.97662	0.975	0.99766	0.996147397946	0.99610	0.9106944834585501	0.91043	0.412041259716	0.41953	0.709908723831	0.68580	T	0.963952	0.99555	D	0.543851	0.95526	D	0.558914	0.95934	D	0.999748647212982	0.98780	D	0.994301	0.98122	D	0.9269811	0.93935	0.8542323	0.91789	0.9364005	0.94882	0.91244334	0.95863	-12.255	0.86071	D	0.9023530054800712	0.95335	0.978	0.91023	P	.;.;.	.;.;.	5.223516	0.87673	29.3	0.99914671999741123	0.98309	0.86840	0.46210	D	AEFBI	0.701049	0.65786	D	1.10222209724316	0.98175	17.60258	0.951438426263697	0.97446	16.14431	0.999999978199531	0.74766	0.608746	0.35421	0	0.633656	0.55848	0	0.731467	0.93227	0	0.444512	0.06955	0	.	.	5.25	5.25	0.73169	5.817000	0.68907	11.803000	0.96709	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.217	0.93770	436	0.80373	Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	33	chr3	57198277	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=778;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=-2.870e-01;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	20	0	1	0
chr3	81705581	81705581	A	G	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon2:c.T176C:p.I59T,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	YES	4	1508	10	0	0	10	0.00330469	.	.	251288	Glycogen_storage_disease,_type_IV|not_provided|Glycogen_storage_disease_IV,_classic_hepatic|Adult_polyglucosan_body_disease|not_specified	MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C3661900|MedGen:C1856301|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.928	P	0.666	P	0.000	D	1.000	D	2.665	M	2.04	T	-0.881	T	0.103	T	0.707	3.179	16.64	5.68	2.170	7.725	15.602	0.441	.	0.0064	0.00259585	0.0097	0.0024	0.0421	0	0.0063	0.0133	0.0055	0.0010	0.0001153	3	26028	rs28763904	0.0085	0.0085	0.0088	0.0082	0.0160	0.0084	0.0083	0.0149	0.0145	0.0014	0.0160	0.0017	2.635e-05	0.0046	0.0023	0.0097	0.0080	0.0014	0.0058	0.0059	0.0060	0.0057	0.0088	0.0055	0.0054	0.0082	0.0079	0.0026	0	0.0085	0.0012	0	0.0038	0	0.0088	0.0028	0.0010	0.034	0.91255	D	0.029	0.63109	D	0.77	0.51611	P	0.635	0.52990	P	0.000001	0.62929	D	0.060137	0.999754	0.48800	D	2.81	0.81869	M	2.04	0.22881	T	-4.06	0.74582	D	0.751	0.76111	-0.8811	0.49673	T	0.103	0.37919	T	10	0.008882791	0.00201	T	.	.	.	0.441	0.74447	.	.	0.554998169399	0.55159	0.8401685403857482	0.83976	0.0776506249003	0.08735	0.550522863865	0.45930	T	0.80746	0.95153	D	-0.238304	0.15566	T	-0.100147	0.63387	T	0.0341103399524452	0.02657	T	0.80472	0.45382	T	0.55795115	0.70396	0.46722043	0.69090	0.6176909	0.73641	0.40715906	0.65069	-9.391	0.70179	D	0.4827135688746418	0.56107	0.219	0.46631	B	.;.	.;.	4.169048	0.62671	24.5	0.99722489659481284	0.82125	0.98285	0.81260	D	AEFBI	0.877212	0.80171	D	0.638303647204842	0.75615	6.337142	0.626751715871886	0.76887	6.574937	0.999992195512693	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.68	5.68	0.88021	7.792000	0.84405	11.054000	0.85340	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	1.0:0.0:0.0:0.0	15.602	0.76378	725	0.54935	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.98	36	chr3	81705581	.	A	G	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.34;SOR=0.675	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1192	20	0	1	0
chr3	93896595	93896595	G	A	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon9:c.C946T:p.R316C	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	171092	Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant	MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.451	P	0.000	D	0.996	D	2.39	M	-1.29	T	-0.099	T	0.458	T	0.828	3.038	16.14	3.27	0.929	2.991	9.760	0.772	0.211630375543	7.7e-05	.	8.304e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs373983977	1.986e-05	1.984e-05	1.772e-05	2.202e-05	5.986e-05	1.394e-05	1.205e-05	1.297e-05	1.107e-05	5.986e-05	0	0	2.523e-05	3.746e-05	0	1.981e-05	0	2.32e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.994	0.66517	D	0.451	0.46123	P	0.000345	0.45440	D	0.140326	0.996465	0.43220	D	2.455	0.71248	M	-1.29	0.79475	T	-5.55	0.86222	D	0.573	0.59563	-0.0993	0.80114	T	0.458	0.78906	T	10	0.79052854	0.78621	D	0.21163	0.87314	D	0.772	0.92336	.	.	0.884098710478	0.88296	0.840314568435197	0.83991	0.857722285798	0.68820	0.374407976866	0.21462	T	0.914914	0.98428	D	0.137353	0.68072	D	0.141049	0.79612	D	0.97763192653656	0.71938	D	0.962554	0.87544	D	0.41946554	0.62056	0.3013882	0.56171	0.42343158	0.62320	0.2826289	0.54251	-12.918	0.89022	D	0.6004163980831876	0.66741	0.168	0.42578	B	.;.;.;.;.;.	.;.;.;.;.;.	4.891198	0.80306	27.3	0.9989055907089649	0.96436	0.85839	0.45018	D	AEFI	0.703703	0.65965	D	0.315380665006207	0.56936	3.859433	0.26823352362745	0.53693	3.537079	4.95242543320642E-5	0.03989	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.17	3.27	0.36580	3.333000	0.51806	9.668000	0.81212	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.527:0.473	9.760	0.39691	608	0.67185	Laminin G domain;Laminin G domain;.;Laminin G 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	2697.98	37	chr3	93896595	.	G	A	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=914;ExcessHet=0.0000;FS=5.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.40;MQRankSum=2.00;QD=12.15;ReadPosRankSum=2.79;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr3	122261775	122261775	C	T	exonic	CASR	.	nonsynonymous SNV	CASR:NM_000388:exon4:c.C740T:p.S247F	Hypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, Autosomal recessive, Autosomal dominant;Hypocalcemia, autosomal dominant, Autosomal dominant;Hypocalcemia, autosomal dominant, with Bartter syndrome, Autosomal dominant;Hypocalciuric hypercalcemia, type I, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	75403	Autosomal_dominant_hypocalcemia_1|Familial_hypocalciuric_hypercalcemia|Nephrolithiasis/nephrocalcinosis|not_provided	MONDO:MONDO:0011013,MedGen:C0342345,OMIM:601198|MONDO:MONDO:0018458,MedGen:C1809471,OMIM:PS145980,Orphanet:405|MedGen:CN580796|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.007	B	0.000	D	0.939	D	0.185	N	-1.81	D	-0.661	T	0.305	T	0.263	0.598	7.223	5.27	2.941	2.637	9.546	0.258	0.00794241573943	0.0002	.	3.295e-05	0	0	0	0.0002	4.495e-05	0	0	2.59e-05	4	154602	rs200382161	5.404e-05	5.404e-05	5.309e-05	5.5e-05	0.0003	4.41e-05	4.082e-05	6.092e-05	4.042e-05	2.987e-05	0	3.826e-05	0	0.0001	0.0003	5.036e-05	6.623e-05	0.0001	9.846e-05	9.842e-05	8.992e-05	0.0001	0.0002	6.001e-05	4.875e-05	6.803e-05	5.087e-05	2.405e-05	0	6.533e-05	0	0	0.0003	0	0.0001	0	0.0002	0.667	0.04602	T	0.687	0.05995	T	0.002	0.09854	B	0.007	0.12992	B	0.000184	0.48115	D	0.252696	0.939	0.37231	D	0.175	0.09039	N	-1.81	0.83970	D	0.25	0.04456	N	0.171	0.18239	-0.6611	0.62228	T	0.305	0.67621	T	10	0.1483809	0.28099	T	0.007942	0.21059	T	0.258	0.56959	.	.	0.849203263486	0.84775	0.7786154728644107	0.77812	0.662870960301	0.58999	0.515841424465	0.41041	T	0.307688	0.67982	T	-0.269948	0.11763	T	-0.293473	0.45411	T	0.224615469574928	0.21691	T	0.89531	0.63576	D	0.29192775	0.52171	0.12875214	0.30970	0.22490397	0.45142	0.14206739	0.33809	-4.143	0.25922	T	0.10314840728606874	0.07921	0.193	0.54324	B	.;.;.;.	.;.;.;.	2.918730	0.38741	20.8	0.76760433107383141	0.11598	0.82319	0.41564	D	AEFBI	0.409866	0.48097	N	-0.200222562687564	0.33125	1.875818	0.0598826173605014	0.42550	2.575718	0.999999277687057	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.17	5.27	0.73797	2.659000	0.46406	7.708000	0.66649	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1426:0.7871:0.0:0.0704	9.546	0.38444	400	0.82730	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	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	1437.98	33	chr3	122261775	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.120e-01;DP=828;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-4.850e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr3	129478141	129478141	C	T	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon9:c.C940T:p.R314W	Cranioectodermal dysplasia 1, Autosomal recessive	YES	0	1502	19	1	0	21	0.00694215	.	.	272572	Connective_tissue_disorder|Cranioectodermal_dysplasia_1|not_provided|not_specified	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.004	N	1.000	D	2.925	M	-1.45	T	0.490	D	0.641	D	0.731	4.068	20.9	4.66	1.330	4.394	15.756	0.188	0.289353280779	0.0044	0.00139776	0.0048	0.0004	0.0005	0	0.0039	0.0069	0.0066	0.0045	0.0046118	713	154602	rs61744639	0.0048	0.0048	0.0045	0.0050	0.0047	0.0047	0.0046	0.0046	0.0045	0.0004	0.0009	0.0319	0	0.0039	0.0035	0.0047	0.0049	0.0039	0.0045	0.0045	0.0047	0.0042	0.0070	0.0042	0.0041	0.0065	0.0063	0.0004	0.0011	0.0007	0.0343	0	0.0030	0.0034	0.0070	0.0038	0.0027	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.003868	0.34390	N	0.279446	0.999825	0.50225	D	2.63	0.76995	M	-1.45	0.80899	T	-5.98	0.91353	D	0.522	0.61341	0.490	0.90412	D	0.641	0.87450	D	10	0.009804696	0.00220	T	0.289353	0.90509	D	0.672	0.87868	.	.	0.952316176623	0.95181	0.5983418352486869	0.59765	0.780735406293	0.65281	0.546192884445	0.45320	T	0.715232	0.91908	D	-0.10792	0.35113	T	0.0815987	0.75685	D	0.0235890455863366	0.01094	T	0.989001	0.96320	D	0.49027917	0.66520	0.41508797	0.65633	0.43143672	0.62846	0.3999957	0.64548	-13.616	0.91742	D	0.6785857272398503	0.75465	0.189	0.47305	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.060131	0.84340	28.3	0.99913342734031829	0.98238	0.95229	0.63916	D	AEFDBI	0.799403	0.72567	D	0.67669343027995	0.78107	6.805063	0.607564439379775	0.75490	6.31943	0.999987175815797	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	4.700000	0.61489	2.750000	0.34528	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1377:0.8623:0.0:0.0	15.756	0.77793	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1150.98	34	chr3	129478141	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=810;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-4.590e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr3	129528885	129528885	G	C	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon1:c.G152C:p.G51A,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	288724	not_provided|Congenital_stationary_night_blindness_autosomal_dominant_1|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445,Orphanet:215|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	2.285	M	0.77	T	-0.581	T	0.193	T	0.325	4.059	20.9	5.52	2.609	4.386	19.038	0.430	.	0.0025	0.00459265	0.0011	0.0118	0.0003	0	0	8.99e-05	0.0011	0	0.0011125	172	154602	rs149079952	0.0003	0.0003	0.0004	0.0003	0.0103	0.0003	0.0003	0.0094	0.0091	0.0103	0.0005	0	0	0	0.0019	5.396e-05	0.0010	0.0001	0.0028	0.0028	0.0029	0.0028	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0015	0	0	0	0	7.349e-05	0.0028	0.0002	0.044	0.41096	D	0.127	0.35082	T	1.0	0.90584	D	0.997	0.86255	D	0.000006	0.62929	D	0.106321	1	0.81001	D	2.07	0.56829	M	0.77	0.49642	T	-4.13	0.75139	D	0.69	0.69562	-0.5806	0.65593	T	0.193	0.54637	T	10	0.016246676	0.00342	T	.	.	.	0.430	0.73662	.	.	0.892792565662	0.89173	0.9371479934239455	0.93694	0.896665118415	0.70483	0.61914741993	0.55609	T	0.784792	0.94351	D	-0.390064	0.02688	T	-0.325114	0.42012	T	0.0311814557097529	0.02175	T	0.959504	0.84742	D	0.58510035	0.71886	0.7095899	0.82871	0.6781824	0.76872	0.7453305	0.84948	-5.973	0.46053	T	0.2255041211503992	0.30468	0.491	0.64183	A	.	.	3.875245	0.56290	23.7	0.99797263957725646	0.88283	0.93457	0.58268	D	AEFDBI	0.604454	0.59554	D	0.751740995433971	0.83018	7.908503	0.727711915576057	0.84482	8.304422	0.999998064372123	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	4.489000	0.60035	9.958000	0.82775	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.038	0.92968	511	0.75131	.	.	.	.	.	.	Likely benign	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	0	1	0	0.02381	2077.98	34	chr3	129528885	.	G	C	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=942;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.027;SOR=0.564	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr3	129533669	129533669	C	T	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon5:c.C998T:p.A333V,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1584851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.001	D	0.974	D	0.6	N	1.2	T	-1.098	T	0.064	T	0.425	2.575	14.57	4.3	1.167	0.967	15.450	0.116	0.14850341924	.	.	0.0001	0	0.0002	0	0	3.003e-05	0.0011	0.0007	0.0001035	16	154602	rs760792843	3.968e-05	3.967e-05	1.225e-05	6.738e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0005	0	0	0	0	0	0	2.698e-06	0	0.0006	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.151	0.24564	T	0.315	0.19421	T	0.0	0.02946	B	0.0	0.01387	B	0.000554	0.43413	D	0.227900	0.973808	0.39053	D	0.035	0.08059	N	1.2	0.37405	T	-0.61	0.18042	N	0.03	0.00717	-1.0978	0.04367	T	0.064	0.26632	T	10	0.031240612	0.01257	T	0.148503	0.83041	D	0.116	0.32463	0.267	0.21418	0.62478398535	0.62173	0.6335245147686495	0.63286	0.23281924886	0.25818	0.33363083005	0.15482	T	0.372513	0.73668	T	-0.374564	0.03369	T	-0.396317	0.33812	T	0.0698098997465096	0.08625	T	0.882812	0.60417	D	0.17720231	0.38673	0.240196	0.49388	0.17720231	0.38673	0.240196	0.49387	-8.23	0.62627	D	.	.	0.102	0.17869	B	.	.	1.852331	0.23531	16.05	0.99575593341443169	0.72682	0.39308	0.26184	N	AEFBI	0.209424	0.33541	N	-0.478999468250493	0.22771	1.218174	-0.353044172191121	0.26414	1.458874	0.999995961814473	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	1.369000	0.33832	1.947000	0.29863	0.599000	0.40250	0.019000	0.19563	1.000000	0.68203	0.701000	0.34172	0.0:0.8521:0.1478:0.0	15.450	0.74993	511	0.75131	.	.	.	.	.	.	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	2197.98	34	chr3	129533669	.	C	T	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.283e+00;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-2.644e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	20	0	1	0
chr3	185254016	185254016	C	A	exonic	EHHADH	.	stopgain	EHHADH:NM_001966:exon1:c.G7T:p.E3X,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	6.362	37	4.85	2.674	1.306	13.658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002088	0.37271	N	0.303092	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.56662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.246944	0.97341	37	0.99533333375611421	0.70025	0.80449	0.40084	D	ALL	0.218205	0.34323	N	0.779319782442578	0.84795	8.388935	0.622112593625657	0.76549	6.511524	1.0	0.98316	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.85	4.85	0.62375	1.316000	0.33226	1.695000	0.28095	0.599000	0.40250	0.863000	0.30666	0.910000	0.28117	0.952000	0.50033	0.0:1.0:0.0:0.0	13.658	0.61824	679	0.60090	.;.	.	.	.	.	.	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	1052.98	33	chr3	185254016	.	C	A	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-2.370e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1096	20	0	1	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	YES	1	1507	14	0	0	14	0.00462351	.	.	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.994	D	0.885	P	0.000	D	0.917	D	1.24	L	1.58	T	-0.856	T	0.102	T	0.343	3.531	18.02	2.39	0.843	-0.018	8.420	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1293.98	33	chr3	189995368	.	C	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=824;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.117e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr4	1004343	1004343	T	C	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_001363576:exon13:c.T1516C:p.Y506H	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.98	D	0.000	D	0.993	D	1.91	M	-1.03	T	0.090	D	0.557	D	0.646	2.368	13.88	5.55	2.133	1.710	12.124	0.395	0.241561300844	.	.	8.387e-06	0	0	0	0	0	0	6.068e-05	6.5e-06	1	154602	rs747181335	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.30097	T	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000010	0.62929	D	0.068291	0.992757	0.41734	D	2.3	0.65703	M	-1.03	0.76430	T	-2.34	0.53577	N	0.366	0.40765	0.090	0.83998	D	0.557	0.83845	D	10	0.46915224	0.59755	T	0.241561	0.88722	D	0.395	0.71004	.	.	0.818986813389	0.81727	0.8529289048587597	0.85254	0.862198414937	0.69012	0.634007573128	0.57713	T	0.477364	0.80763	T	-0.0371229	0.46376	T	-0.109573	0.62647	T	0.746490776538849	0.43090	D	0.727827	0.34232	T	0.37884805	0.59233	0.18747589	0.41982	0.37884805	0.59234	0.18747589	0.41982	-4.37	0.29147	T	0.5075353242325261	0.58176	0.270	0.50389	B	.;.	.;.	3.022640	0.40463	21.2	0.99200245068054749	0.55261	0.80170	0.39880	D	AEFBI	0.096763	0.19528	N	0.0384888411291798	0.43615	2.650882	-0.0259251952680616	0.38547	2.272652	0.945695808373697	0.27672	0.706298	0.61202	0	0.709663	0.81188	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.55	5.55	0.83298	2.365000	0.43849	.	.	0.661000	0.55757	0.246000	0.24809	0.732000	0.26423	0.002000	0.04165	0.0:0.0:0.0:1.0	12.124	0.53207	856	0.34373	.;.	.	.	.	.	.	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	795.98	37	chr4	1004343	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=779;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.157e+00;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr4	5563024	5563024	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon22:c.G3511A:p.E1171K	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.84	P	0.129	B	0.150	N	1.000	N	0.895	L	-0.84	T	-0.918	T	0.178	T	0.279	2.303	13.66	2.29	0.545	1.321	7.199	0.102	0.0219637780548	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs769520928	2.736e-05	2.736e-05	1.361e-05	4.125e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.529e-05	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.469e-05	0	0.0002	0.241	0.17643	T	0.101	0.38891	T	0.84	0.46486	P	0.129	0.32841	B	0.150072	0.17997	N	0.572654	1	0.08975	N	1.845	0.48678	L	-0.85	0.74371	T	-1.32	0.34795	N	0.197	0.21710	-0.9182	0.45797	T	0.178	0.52365	T	10	0.10088503	0.18399	T	0.021964	0.44807	T	0.102	0.29158	0.317	0.29419	0.695568829229	0.69294	0.12977325743877544	0.12902	0.0750409668972	0.08422	0.38676148653	0.23212	T	0.027367	0.20056	T	-0.266121	0.12194	T	-0.345741	0.39693	T	0.292006820440292	0.24673	T	0.70223	0.31206	T	0.043670982	0.06848	0.0638812	0.12719	0.043670982	0.06848	0.0638812	0.12719	-3.837	0.21358	T	.	.	0.084	0.09820	B	.;.	.;.	2.169246	0.27642	17.53	0.98693975072475137	0.44809	0.06904	0.12930	N	AEFDBI	0.088524	0.17946	N	-0.554289258456578	0.20349	1.072083	-0.587046486016439	0.19830	1.06573	1.89895771657727E-4	0.05844	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.17	2.29	0.27658	1.713000	0.37570	0.321000	0.17185	-0.872000	0.02536	0.133000	0.23395	0.001000	0.17328	0.657000	0.32885	0.0:0.5817:0.3268:0.0916	7.199	0.25047	958	0.09170	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4023.98	346	chr4	5563024	.	C	T	4023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.016;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.300e-02;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	YES	0	1506	16	0	0	16	0.00528402	.	.	31062	GNRHR-related_disorder|Gonadotropin_deficiency|Hypogonadotropic_hypogonadism|Inborn_genetic_diseases|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Isolated_congenital_hypogonadotropic_hypogonadism|not_provided	.|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.992	D	0.000	D	1.000	A	1.055	L	-0.54	T	-0.320	T	0.323	T	0.955	2.437	14.11	6.17	2.371	7.775	14.774	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	33	chr4	67754019	.	T	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.983e+00;DP=901;ExcessHet=0.0000;FS=6.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.811;SOR=0.469	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr4	73412006	73412006	C	T	exonic	ALB	.	nonsynonymous SNV	ALB:NM_000477:exon7:c.C724T:p.R242C,	Analbuminemia	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.952	N	1.000	N	2.48	M	-0.88	T	-0.939	T	0.153	T	0.598	2.857	15.52	1.34	0.885	-0.626	4.512	0.120	0.0510634799615	.	.	2.473e-05	0	8.675e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs754953092	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0005	2.151e-05	1.908e-05	0.0001	7.838e-05	0	6.708e-05	0	0	0	0.0005	1.709e-05	4.968e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.981	0.86255	D	0.951509	0.08284	N	0.979822	0.999989	0.18198	N	2.915	0.84231	M	-0.88	0.74689	T	-4.42	0.79659	D	0.466	0.56748	-0.9390	0.42774	T	0.153	0.48291	T	10	0.6966975	0.72188	D	0.051063	0.64505	D	0.543	0.80960	0.744	0.87570	0.89305311408	0.89199	0.6057388224713427	0.60504	0.920899058271	0.71449	0.285074472427	0.08209	T	0.432448	0.78021	T	-0.110649	0.34662	T	-0.160048	0.58349	T	0.721924600769641	0.41796	D	0.950605	0.81304	D	0.47771606	0.65761	0.39684358	0.64315	0.47771606	0.65762	0.39684358	0.64315	-10.735	0.78185	D	0.8360328783640325	0.90570	0.486	0.70803	A	.;.;.;.;.	.;.;.;.;.	3.957315	0.58015	23.9	0.99871158872341326	0.94902	0.17158	0.19715	N	AEFBHCI	0.779026	0.71135	D	-0.264167414730531	0.30543	1.703957	-0.382332727050436	0.25524	1.404163	0.999992854498552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.02	1.34	0.21018	-0.238000	0.08995	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.4984:0.297:0.0:0.2046	4.512	0.11325	814	0.42100	Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	.	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	1	0	0	0	0.02381	1866.98	35	chr4	73412006	.	C	T	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.079;DP=837;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-3.550e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	78499901	78499901	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon61:c.G9296A:p.R3099Q,	Fraser syndrome, Autosomal recessive	YES	0	1490	30	2	0	34	0.0112807	.	.	691618	FRAS1-related_disorder|Fraser_syndrome_1|Inborn_genetic_diseases|not_provided|not_specified	.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	0.765	N	1.72	T	-1.058	T	0.117	T	0.882	4.200	21.8	5.91	2.802	9.727	20.298	0.303	0.0257026602405	0.0006	0.00119808	0.0014	0	0.0012	0.0001	0.0002	0.0013	0.0011	0.0042	0.0012484	193	154602	rs149692526	0.0008	0.0008	0.0007	0.0009	0.0123	0.0008	0.0007	0.0100	0.0091	9.146e-05	0.0010	0.0061	2.572e-05	3.809e-05	0.0123	0.0004	0.0015	0.0036	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	7.216e-05	0	0.0011	0.0098	0	0	0.0238	0.0007	0.0024	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.811	0.80669	-1.0577	0.12337	T	0.117	0.41253	T	10	0.020795912	0.00485	T	0.025703	0.48656	D	.	.	.	.	0.760667659914	0.75848	0.39087212594723714	0.39002	.	.	0.711399674416	0.68796	T	.	.	.	0.0934964	0.63581	D	0.35816	0.90632	D	0.0831080965044587	0.10380	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-7.028	0.54238	T	.	.	0.087	0.11076	B	.	.	5.329954	0.89445	30	0.99936628813346795	0.99621	0.99074	0.90844	D	AEFBI	0.879822	0.80603	D	0.476479058648868	0.65720	4.858043	0.561012832698401	0.72167	5.767316	0.999999999143538	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	9.860000	0.98420	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:1.0:0.0	20.298	0.98571	911	0.21964	.	.	.	.	.	.	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	574.98	36	chr4	78499901	.	G	A	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=773;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.268;SOR=1.201	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr4	88046767	88046767	T	G	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon6:c.T1445G:p.F482C,	Polycystic kidney disease 2	YES	4	1474	41	3	0	47	0.0156928	.	.	221477	not_specified|Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease|Polycystic_kidney_disease_2|not_provided	MedGen:CN169374|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.519	P	0.586	P	0.001	D	1.000	D	0.895	L	-0.47	T	-0.359	T	0.340	T	0.444	3.759	19.08	5.61	2.130	6.099	15.800	0.185	0.174648661368	0.0024	0.000998403	0.0021	0.0002	0.0018	0	0.0005	0.0032	0.0022	0.0010	0.0020698	320	154602	rs75762896	0.0022	0.0022	0.0022	0.0022	0.0311	0.0021	0.0021	0.0274	0.0259	0.0007	0.0019	0.0095	0	0.0002	0.0311	0.0021	0.0034	0.0012	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0021	0.0020	0.0005	0	0.0025	0.0095	0	0.0002	0.0170	0.0024	0.0057	0.0014	0.005	0.63226	D	0.012	0.63918	D	0.519	0.37512	P	0.586	0.50343	P	0.000986	0.40743	D	0.256644	0.937535	0.81001	D	1.39	0.34934	L	-0.47	0.70133	T	-1.31	0.32791	N	0.366	0.40765	-0.3586	0.73305	T	0.340	0.70575	T	10	0.013403147	0.00284	T	0.174649	0.85097	D	0.185	0.45933	.	.	0.275349458131	0.27150	0.7992809757317741	0.79881	0.628865736307	0.56943	0.429157376289	0.29093	T	0.284679	0.65746	T	-0.300048	0.08654	T	-0.209322	0.53761	T	0.0306232327871647	0.02086	T	0.80282	0.44919	T	0.22798562	0.45510	0.15149388	0.35683	0.32848933	0.55347	0.19268322	0.42796	-7.815	0.59802	D	0.23977873573515104	0.32479	0.088	0.11749	B	.	.	4.653233	0.74191	26.1	0.99382475913230373	0.61935	0.97013	0.72187	D	AEFBI	0.775507	0.70890	D	0.341962011717758	0.58317	4.003165	0.450285093661695	0.64736	4.73565	0.999999796872556	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.082000	0.70966	7.856000	0.71202	0.663000	0.56723	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.800	0.78216	489	0.76795	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	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	1	0	0.04762	2244.11	102	chr4	88046767	.	T	G	2244.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.200e-02;DP=888;ExcessHet=0.1072;FS=5.382;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=1.76;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1420	19	0	2	0
chr4	99589739	99589739	A	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon4:c.A571G:p.T191A	Abetalipoproteinemia, Autosomal recessive	YES	1	1519	2	0	0	2	0.000657895	.	.	294774	Inborn_genetic_diseases|Abetalipoproteinaemia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.454	P	0.266	B	0.004	N	1.000	N	1.87	L	3.57	T	-1.004	T	0.103	T	0.139	2.091	12.95	5.35	2.034	2.370	9.832	0.116	.	.	0.00219649	0.0012	0	8.658e-05	0.0001	0	0	0.0011	0.0083	0.0010414	161	154602	rs563558722	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	0	0	5.082e-05	0	0.0005	2.783e-06	0.0009	0.0075	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	0.049	0.39820	D	0.026	0.55759	D	0.32	0.36182	B	0.248	0.39732	B	0.003931	0.34318	N	0.350500	1	0.08975	N	2.595	0.75868	M	3.57	0.40218	T	-0.71	0.20145	N	0.066	0.03841	-1.0043	0.28666	T	0.103	0.37994	T	10	0.008355707	0.00189	T	.	.	.	0.116	0.32463	0.74	0.87232	0.729283302134	0.72687	0.25658072981139496	0.25572	0.234622177888	0.26005	0.372658371925	0.21212	T	0.024116	0.48360	T	-0.529612	0.00386	T	-0.527272	0.19561	T	0.0474630555498203	0.05047	T	0.710029	0.32075	T	0.07242822	0.16112	0.10499231	0.25231	0.06801668	0.14780	0.085958354	0.19882	-3.595	0.17785	T	0.1761429023048341	0.22461	0.097	0.15966	B	.;.;.;.	.;.;.;.	2.839999	0.37468	20.5	0.99253279257682203	0.56957	0.38372	0.25973	N	AEFI	0.262441	0.38019	N	-0.083355452921953	0.38122	2.227979	-0.0019902160931826	0.39626	2.35236	0.0085393129545243	0.11694	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	1.860000	0.39068	6.938000	0.56982	0.756000	0.94297	0.229000	0.24633	1.000000	0.68203	0.998000	0.85391	0.7341:0.0:0.0:0.2658	9.832	0.40114	925	0.17918	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	517.98	34	chr4	99589739	.	A	G	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.580;SOR=0.746	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I	Abetalipoproteinemia, Autosomal recessive	YES	0	1475	46	1	0	48	0.0160107	0.7313	0.39	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.98	D	0.825	P	0.000	D	1.000	D	2.2	M	1.96	T	-0.785	T	0.114	T	0.074	4.510	24.2	5.07	1.519	4.075	13.015	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	853.98	36	chr4	99591235	.	G	A	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=733;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.79;ReadPosRankSum=-3.130e-01;SOR=0.408	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	20	0	1	0
chr4	109749528	109749528	G	A	exonic	CFI	.	stopgain	CFI:NM_001375283:exon7:c.C958T:p.R320X	Complement factor I deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1309746	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.294	22.5	1.72	-0.005	1.490	15.293	.	.	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762761680	1.711e-05	1.71e-05	4.086e-06	3.026e-05	9.277e-05	1.174e-05	9.93e-06	4.579e-05	3.273e-05	0	0	0	5.038e-05	0	0	1.35e-05	0	9.277e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.924	0.92901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460917	0.92965	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.131361	0.96178	35	0.99366729949989818	0.61240	0.86924	0.46316	D	AEFBI	0.307090	0.41406	N	0.185182148233765	0.50487	3.238278	-0.0951576283744062	0.35591	2.060857	0.00402280271521477	0.10385	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.59	1.72	0.23498	1.535000	0.35667	3.447000	0.38420	0.595000	0.32841	0.998000	0.41325	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.3746:0.6254	15.293	0.73588	839	0.37672	.;Serine proteases, trypsin domain;Serine proteases, trypsin domain;.;Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1399.98	52	chr4	109749528	.	G	A	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=820;ExcessHet=0.0000;FS=3.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.700e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1265	20	0	1	0
chr4	121801465	121801465	T	C	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon1:c.T41C:p.L14P	.	YES	433	1088	1	0	0	1	0.000459348	.	.	540570	not_provided|Pontocerebellar_hypoplasia,_type_1D|Cerebral_atrophy	MedGen:C3661900|MONDO:MONDO:0054844,MedGen:C4748058,OMIM:618065|Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.52	M	0.79	T	-0.341	T	0.325	T	0.859	4.831	27.4	5.83	2.224	6.955	15.197	0.606	0.204437684395	0.0002	0.000199681	4.947e-05	0.0006	0	0	0	0	0	0	4.53e-05	7	154602	rs139632595	2.805e-05	2.805e-05	3.948e-05	1.65e-05	0.0011	2.086e-05	1.878e-05	0.0008	0.0007	0.0011	2.236e-05	0	0	0	0	0	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.534e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.88582	D	0.000025	0.55875	D	0.072740	1	0.81001	D	2.905	0.84014	M	0.79	0.49068	T	-4.15	0.76655	D	0.871	0.87373	-0.3410	0.73814	T	0.325	0.69376	T	10	0.632215	0.68581	D	0.204438	0.86931	D	0.606	0.84506	.	.	0.718868093771	0.71639	0.9487137895124373	0.94854	0.489470635686	0.47710	0.872409939766	0.92911	D	0.41022	0.76503	T	-0.0233605	0.48372	T	0.116963	0.78033	D	0.88196849822998	0.53205	D	0.893011	0.66210	D	0.97871554	0.99010	0.9496481	0.98378	0.9802476	0.99129	0.9345446	0.97405	-13.708	0.92069	D	0.8318251000657702	0.90245	0.987	0.92791	P	.;.;.	.;.;.	5.347467	0.89711	31	0.99903382997254697	0.97502	0.89794	0.50492	D	AEFGBHCIJ	0.858075	0.77553	D	0.793359652612978	0.85689	8.651431	0.753850488408733	0.86442	8.891298	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.83	5.83	0.93059	6.931000	0.75678	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.0:1.0	15.197	0.72782	825	0.40060	.;.;.	.	.	.	.	.	Uncertain significance	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	0.04762	4401.08	34	chr4	121801465	.	T	C	4401.08	.	AC=2;AF=0.048;AN=42;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.94;SOR=0.912	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	20	1	0	0
chr4	125449070	125449070	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G8060A:p.R2687Q	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	YES	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.117	B	0.019	B	0.011	U	0.986	D	-0.155	N	0.75	T	-1.065	T	0.054	T	0.046	1.590	11.27	5.02	1.407	4.895	9.541	0.083	0.00690139784479	.	.	5.799e-05	0	0	0.0005	0	3.002e-05	0	6.058e-05	4.53e-05	7	154602	rs777764521	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0003	9.85e-06	8.41e-06	0.0001	0.0001	2.988e-05	0	0	0.0003	0	0.0003	5.396e-06	0	3.479e-05	6.583e-06	1.314e-05	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.38	0.11191	T	1.0	0.01155	T	0.046	0.26519	B	0.019	0.18783	B	0.010980	0.29712	U	0.000000	0.985788	0.40334	D	0.255	0.09829	N	0.75	0.50192	T	0.42	0.03352	N	0.121	0.11197	-1.0651	0.10526	T	0.054	0.22883	T	10	0.050094992	0.04692	T	0.006901	0.18261	T	0.083	0.24192	.	.	0.151262610727	0.14761	0.24804494689379583	0.24718	0.180123895676	0.20259	0.211375027895	0.00871	T	0.025595	0.19108	T	-0.478548	0.00754	T	-0.605168	0.12380	T	0.0575297231732835	0.06774	T	0.89651	0.63872	D	0.04999956	0.08965	0.040714867	0.04463	0.04999956	0.08964	0.040714867	0.04463	-3.396	0.15003	T	.	.	0.075	0.05579	B	.;.	.;.	2.442620	0.31438	18.74	0.96928588378928715	0.31648	0.91722	0.54125	D	AEFBI	0.324508	0.42638	N	-0.308482173063226	0.28824	1.593177	-0.0684486543051126	0.36704	2.139369	0.497572572461711	0.20915	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	4.924000	0.63118	9.892000	0.82281	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0805:0.1421:0.7773:0.0	9.541	0.38416	922	0.19044	Cadherin-like;.	.	.	.	.	.	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	3732.98	144	chr4	125449070	.	G	A	3732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=2750;ExcessHet=0.0000;FS=2.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.21;SOR=0.575	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	20	0	1	0
chr4	169400346	169400346	T	G	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon30:c.A3243C:p.E1081D	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.125	M	0.4	T	-0.615	T	0.281	T	0.436	3.756	19.07	2.1	0.461	0.832	8.711	0.162	0.0248832996097	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs561314669	5.845e-06	5.474e-06	7.192e-06	4.454e-06	0.0002	2.51e-06	1.82e-06	2.04e-06	1.34e-06	0	2.876e-05	0	0	0	0.0002	5.681e-06	0	0	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.048	0.40573	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000018	0.62929	D	0.000000	0.999568	0.47592	D	2.42	0.70002	M	0.4	0.57261	T	-1.55	0.37759	N	0.617	0.69125	-0.6150	0.64196	T	0.281	0.65299	T	10	0.32100427	0.49469	T	0.024883	0.47865	T	0.162	0.41843	0.221	0.14371	0.511848488485	0.50826	0.3341048784908643	0.33323	0.342150454951	0.36147	0.645237386227	0.59309	T	0.156201	0.49827	T	-0.128448	0.31748	T	-0.29714	0.45026	T	0.851715683937073	0.50314	D	0.96937	0.89015	D	0.13965441	0.32251	0.10849201	0.26135	0.13965441	0.32251	0.10849201	0.26135	-4.958	0.37791	T	0.7045821333029897	0.78402	0.609	0.76654	P	.;.;.;.;.	.;.;.;.;.	3.561856	0.50119	22.9	0.99843109568648181	0.92316	0.93169	0.57505	D	AEFGBHCI	0.454928	0.50743	N	0.385912399145286	0.60657	4.257159	0.316895504317818	0.56533	3.816671	0.999991317548279	0.74766	0.651	0.46895	0	0.522029	0.08744	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.73	2.1	0.26226	0.824000	0.27034	1.445000	0.26559	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.2196:0.0:0.7804	8.711	0.33543	963	0.08280	.;.;.;.;.	.	.	.	.	.	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	515.98	49	chr4	169400346	.	T	G	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=738;ExcessHet=0.0000;FS=2.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-8.920e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1425	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:101,14:115:21:0|1:176711629_G_C:0,21,3956:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:101,14:115:21:0|1:176711629_G_C:0,21,3956:176711629	6	0	11	4
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	YES	421	1078	21	2	0	25	0.0114626	.	.	1072823	SLC9A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.942	P	0.826	P	0.217	N	1.000	N	2.065	M	2.22	T	-1.078	T	0.071	T	0.2	2.093	12.96	2.31	0.871	-0.087	4.255	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	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	1325.98	39	chr5	484656	.	C	T	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.179;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-5.940e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr5	13717389	13717389	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon73:c.G12631A:p.E4211K,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	.	.	.	.	.	.	.	.	.	300985	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	3.925	H	2.77	T	-0.627	T	0.142	T	0.925	5.129	32	4.58	1.301	7.798	13.858	0.436	0.0750671609156	.	.	8.283e-06	0	8.688e-05	0	0	0	0	0	1.94e-05	3	154602	rs762673561	2.189e-05	2.189e-05	2.178e-05	2.2e-05	4.472e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	4.472e-05	0	2.521e-05	0	0	2.608e-05	0	0	6.575e-06	6.568e-06	0	1.346e-05	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.101878	1	0.81001	D	3.74	0.94936	H	2.77	0.11407	T	-3.89	0.72820	D	0.926	0.93018	-0.6273	0.63685	T	0.142	0.46367	T	10	0.9391374	0.93241	D	0.075067	0.72198	D	0.436	0.74093	0.801	0.92017	0.761866617869	0.75969	0.8710966450372373	0.87075	0.33534197443	0.35541	0.884870409966	0.94606	D	0.427957	0.77726	T	0.128602	0.67224	D	0.122798	0.78418	D	0.996972441673279	0.90488	D	0.994301	0.98122	D	0.93213123	0.94450	0.8975616	0.94803	0.93213123	0.94451	0.8975616	0.94803	-12.754	0.88324	D	0.6823698243470959	0.75891	0.934	0.85360	P	.	.	4.884074	0.80130	27.3	0.99908412351395515	0.97875	0.98002	0.78783	D	AEFDGI	0.910485	0.86846	D	0.902120392630885	0.91863	11.10466	0.789155649470289	0.89028	9.810334	0.999999774027614	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.45	4.58	0.56077	7.905000	0.86479	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9268:0.0:0.0732	13.858	0.63035	807	0.43470	Dynein heavy chain 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	1772.98	37	chr5	13717389	.	C	T	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=855;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=1.21;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr5	13917246	13917246	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon8:c.A986G:p.E329G,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	0	1521	1	0	0	1	0.000328623	.	.	1828850	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.03	B	0.046	N	0.677	D	2.545	M	0.45	T	-0.678	T	0.179	T	0.26	1.831	12.08	5.54	2.107	2.187	7.796	0.205	0.0642683957276	.	.	4.974e-05	0	0	0	0	9.046e-05	0	0	3.88e-05	6	154602	rs483353127	1.574e-05	1.573e-05	1.362e-05	1.788e-05	0.0026	1.048e-05	8.76e-06	0.0016	0.0013	0	4.472e-05	3.827e-05	0	0	0.0026	0	8.283e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.113	0.28772	T	.	.	.	0.003	0.11197	B	0.03	0.21741	B	0.046493	0.23434	N	0.469068	0.676849	0.33196	D	3.3	0.90472	M	0.45	0.56446	T	-5.13	0.83224	D	0.455	0.49237	-0.6779	0.61469	T	0.179	0.52504	T	10	0.44156352	0.58133	T	0.064268	0.69226	D	0.205	0.49236	0.561	0.68093	0.685124276654	0.68243	0.4798316727898653	0.47903	0.386324511951	0.39923	0.292774915695	0.09328	T	0.504224	0.82340	D	-0.218958	0.18134	T	-0.376448	0.36137	T	0.308433926030992	0.25350	T	0.838616	0.51177	T	0.21079993	0.43386	0.4376821	0.67179	0.21079993	0.43386	0.4376821	0.67179	-8.005	0.61105	D	0.2454908806116993	0.33249	0.093	0.14201	B	.	.	2.899917	0.38433	20.7	0.99470775478835638	0.66312	0.97340	0.74132	D	AEFDIJ	0.457864	0.50913	N	-0.0220795721846033	0.40858	2.43365	0.0843888682915284	0.43763	2.671408	0.997568617948589	0.35763	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	2.182000	0.42186	6.184000	0.54674	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.038000	0.14061	0.1288:0.0:0.151:0.7202	7.796	0.28312	733	0.53988	Dynein heavy chain, domain-1	.	.	.	.	.	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	1507.98	34	chr5	13917246	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=826;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.412;SOR=0.474	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1467	20	0	1	0
chr5	39288783	39288783	C	T	exonic	C9	.	nonsynonymous SNV	C9:NM_001737:exon10:c.G1585A:p.A529T,	C9 deficiency	YES	2	1518	2	0	0	2	0.000658328	.	.	1534602	Age_related_macular_degeneration_15|Complement_component_9_deficiency|not_provided	MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591|MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.237	N	1.000	N	-1.04	N	-1.94	D	-0.879	T	0.184	T	0.029	0.292	5.581	-8.51	-0.882	-1.197	3.451	0.234	0.0211203642337	0.0003	0.00159744	0.0005	0.0002	0.0002	0	0	0.0003	0.0011	0.0024	0.0005627	87	154602	rs137891079	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0007	0.0026	0.0024	5.991e-05	0.0002	0	0	1.872e-05	0.0003	0.0007	0.0009	0.0029	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	4.818e-05	0	0	0	0	0	0	0.0006	0.0005	0.0033	0.809	0.03044	T	0.742	0.04947	T	0.0	0.02946	B	0.0	0.01387	B	0.237218	0.03558	N	1.454380	1	0.08975	N	-0.84	0.01504	N	-1.94	0.84919	D	-0.2	0.10136	N	0.04	0.01347	-0.8793	0.49817	T	0.184	0.53209	T	10	0.013572186	0.00287	T	0.02112	0.43839	T	0.234	0.53644	.	.	0.455816718377	0.45207	0.34817116393306585	0.34731	0.0324740096755	0.03394	0.24389372766	0.03152	T	0.008154	0.07505	T	-0.569413	0.00223	T	-0.597175	0.13050	T	0.000729340678505016	0.00007	T	0.371363	0.08780	T	0.0839138	0.19398	0.05673301	0.10190	0.0839138	0.19398	0.05673301	0.10189	-4.717	0.33610	T	0.06326907279804357	0.01932	0.068	0.02765	B	.	.	-0.805947	0.01095	0.049	0.4474683766928807	0.03463	0.01386	0.04714	N	AEFI	0.105961	0.21156	N	-1.81941593599529	0.00499	0.02149548	-1.80811251753575	0.00734	0.03269311	0.999210343222786	0.38775	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.79	-8.51	0.00804	-1.191000	0.03164	-0.349000	0.09758	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.2368:0.2055:0.0644:0.4932	3.451	0.07066	727	0.54702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	37	chr5	39288783	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.601e+00;DP=853;ExcessHet=0.0000;FS=2.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.103;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	20	0	1	0
chr5	90689978	90689978	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon30:c.T6608C:p.V2203A,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	YES	0	1470	51	1	0	53	0.017708	.	.	55519	Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.194	B	0.249	B	0.001	D	1.000	D	2.685	M	1.13	T	-0.725	T	0.190	T	0.49	4.579	24.9	5.36	2.025	7.763	15.384	0.355	.	0.0018	0.00239617	0.0034	0.0001	0.0009	0	0.0004	0.0032	0.0091	0.0098	0.0023544	364	154602	rs200055351	0.0022	0.0022	0.0019	0.0024	0.0184	0.0021	0.0021	0.0156	0.0145	0.0004	0.0008	0.0073	0	0.0010	0.0184	0.0016	0.0038	0.0090	0.0016	0.0016	0.0015	0.0017	0.0106	0.0014	0.0014	0.0083	0.0074	0.0003	0	0.0007	0.0095	0	0.0004	0.0272	0.0018	0.0038	0.0106	0.002	0.72154	D	0.004	0.74150	D	0.194	0.29493	B	0.249	0.38982	B	0.000861	0.41440	D	0.246545	0.999658	0.48079	D	.	.	.	1.13	0.38556	T	-3.38	0.66780	D	0.761	0.75927	-0.7245	0.59239	T	0.190	0.54198	T	10	0.009311885	0.00210	T	.	.	.	0.355	0.67600	.	.	0.706577926717	0.70402	0.6962042043904647	0.69561	0.0558218804441	0.06170	0.449944078922	0.31936	T	0.182942	0.53512	T	-0.328345	0.06238	T	-0.238307	0.50964	T	0.0525185356157373	0.05937	T	0.729427	0.34485	T	0.4285325	0.62656	0.5772997	0.75507	0.5112676	0.67754	0.55358535	0.74184	-10.066	0.74306	D	.	.	0.798	0.78051	P	.;.;.	.;.;.	3.371981	0.46602	22.3	0.99857624987460625	0.93639	0.99105	0.91299	D	AEFBI	0.896823	0.83830	D	0.37838958595883	0.60253	4.212213	0.467032345042676	0.65816	4.872094	0.999999999999443	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.742000	0.83928	7.899000	0.73451	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.384	0.74403	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1061.98	111	chr5	90689978	.	T	C	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=1.11;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1355	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	112775733	112775733	A	G	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon4:c.A557G:p.E186G	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	YES	31	1489	2	0	0	2	0.000671141	.	.	1408280	Familial_adenomatous_polyposis_1	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.374	B	0.352	B	0.000	D	1.000	D	1.525	L	-3.02	D	0.525	D	0.729	D	0.905	3.884	19.74	5.3	1.992	6.777	15.251	0.740	0.150943881997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45039	D	0.237	0.35840	T	0.374	0.34192	B	0.352	0.42883	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	1.385	0.34509	L	-3.02	0.92258	D	-3.52	0.68412	D	0.904	0.90476	0.525	0.90892	D	0.729	0.90719	D	10	0.6953932	0.72111	D	0.150944	0.83256	D	0.740	0.90982	0.328	0.31196	0.985861375872	0.98571	0.3421506880022589	0.34128	.	.	0.873024344444	0.92998	D	0.811365	0.95289	D	0.421797	0.91115	D	0.368106	0.91005	D	0.980249404907227	0.73256	D	0.865313	0.71304	D	0.23598197	0.46442	0.32212853	0.58155	0.23598197	0.46442	0.32212853	0.58154	-2.99	0.10073	T	.	.	0.464	0.62874	A	.;.;.;.	.;.;.;.	4.314041	0.65970	24.9	0.99808475275541675	0.89264	0.98159	0.80110	D	AEFGBI	0.718096	0.66940	D	0.288039189423002	0.55541	3.718202	0.3999960479718	0.61564	4.358365	0.99999999999748	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	6.799000	0.74947	11.174000	0.88071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.251	0.73241	678	0.60190	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	857.98	52	chr5	112775733	.	A	G	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.680e-01;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.130e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr5	126577158	126577158	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001182:exon6:c.A571G:p.I191V	Epilepsy, pyridoxine-dependent, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	389123	Abnormal_brain_morphology	Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.635	M	-1.61	D	0.602	D	0.727	D	0.669	3.976	20.3	5.2	2.308	7.517	15.184	0.724	0.10426394574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1060499755	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.034	0.63918	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	-1.61	0.82254	D	-0.98	0.26422	N	0.866	0.88466	0.602	0.91926	D	0.727	0.90665	D	10	0.8503511	0.84211	D	0.104264	0.77875	D	0.724	0.90280	0.735	0.86806	0.93445853736	0.93378	0.6248088545988907	0.62413	0.566867878538	0.52963	0.678668320179	0.64078	T	0.076319	0.73990	T	0.215169	0.75318	D	0.0712986	0.74996	D	0.952938377857208	0.63909	D	0.987701	0.96624	D	0.6986181	0.77981	0.5837223	0.75864	0.65031445	0.75382	0.5338997	0.73068	-6.528	0.58269	T	.	.	0.290	0.59600	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.302583	0.65709	24.9	0.99878451779679911	0.95491	0.98028	0.78995	D	AEFDBIJ	0.941856	0.94569	D	0.742586401052079	0.82422	7.758376	0.66444347764043	0.79690	7.136048	0.999999512775489	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.739000	0.83905	7.820000	0.69717	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:0.0:1.0	15.184	0.72671	645	0.63593	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	37	chr5	126577158	.	T	C	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.170;SOR=0.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1439	20	0	1	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L,	Nijmegen breakage syndrome-like disorder	YES	9	1496	15	2	0	19	0.0063102	.	.	133469	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_cancer_of_breast	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.003	B	0.154	N	1.000	D	0.49	N	3.34	T	-0.943	T	0.006	T	0.223	2.868	15.56	-10.2	-1.969	-0.039	11.719	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	858.98	34	chr5	132575843	.	A	C	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=757;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.410e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1204	20	0	1	0
chr5	132575868	132575868	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.G305A:p.C102Y,	Nijmegen breakage syndrome-like disorder	YES	.	.	.	.	.	.	.	.	.	564572	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.939	D	0.000	D	1.000	D	1.7	L	2.61	T	-1.041	T	0.124	T	0.897	4.218	21.9	5.76	2.715	7.475	18.946	0.475	0.0205504652881	.	0.000199681	3.304e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs573712823	1.99e-05	2.052e-05	1.23e-05	2.758e-05	0.0003	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.321e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.997	0.70673	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.35	0.67516	M	1.98	0.21865	T	-3.88	0.72710	D	0.722	0.72388	-1.0410	0.17011	T	0.124	0.42715	T	10	0.6001303	0.66865	D	0.02055	0.43168	T	0.475	0.76751	0.404	0.43573	0.854204203725	0.85280	0.7358494702544691	0.73529	.	.	0.776564061642	0.78410	T	0.110751	0.52420	T	0.0158401	0.53819	T	0.106943	0.77370	D	0.70321661233902	0.40872	D	0.886111	0.86917	D	0.81893736	0.85148	0.8640453	0.92456	0.81893736	0.85150	0.8640453	0.92456	-8.345	0.63398	D	0.8010275908832474	0.87778	0.787	0.81629	P	.;.;.;.;.;.	.;.;.;.;.;.	5.342080	0.89632	31	0.99763584978778308	0.85254	0.98051	0.79185	D	AEFGBI	0.891862	0.82824	D	0.775092347477602	0.84525	8.312426	0.787114375133847	0.88883	9.752742	0.999788040302371	0.43007	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.598000	0.82000	11.524000	0.93058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.946	0.92596	821	0.40814	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	987.98	34	chr5	132575868	.	G	A	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.674e+00;DP=774;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-2.340e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1204	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
chr5	150077326	150077326	G	A	exonic	CSF1R	.	nonsynonymous SNV	CSF1R:NM_001288705:exon5:c.C839T:p.A280V	Leukoencephalopathy, diffuse hereditary, with spheroids, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.989	D	0.000	D	0.997	N	1.905	M	2.4	T	-1.126	T	0.086	T	0.576	3.590	18.28	3.28	2.333	1.638	9.26	0.178	0.0189260752193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.024	0.63109	D	1.0	0.90584	D	0.964	0.71005	D	0.000167	0.48594	D	0.000000	0.997346	0.22819	N	2.685	0.78553	M	2.4	0.15608	T	-3.15	0.67014	D	0.394	0.55972	-1.1257	0.01999	T	0.086	0.33550	T	10	0.6137899	0.67591	D	0.018926	0.41149	T	0.178	0.44724	0.586	0.71371	0.650377387996	0.64747	0.9036322149995595	0.90336	0.312932419214	0.33594	0.422921448946	0.28239	T	0.284393	0.65717	T	-0.088068	0.38394	T	-0.36428	0.37557	T	0.899274826049805	0.55154	D	0.858914	0.55137	D	0.7253823	0.79462	0.65187675	0.79628	0.7253823	0.79464	0.65187675	0.79629	-5.096	0.45554	T	0.3020317309802914	0.39944	0.308	0.57261	B	.;.	.;.	3.165623	0.42909	21.6	0.9989697654542169	0.96971	0.17211	0.19738	N	AEFDBI	0.219944	0.34476	N	0.174922923656101	0.49998	3.194113	0.0371410617015004	0.41453	2.490758	0.994660319214681	0.33742	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.25	3.28	0.36691	1.664000	0.37055	6.031000	0.52920	0.676000	0.76740	0.467000	0.26699	1.000000	0.68203	0.011000	0.09372	0.0:0.2212:0.7788:0.0	9.26	0.36766	548	0.72362	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	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	2881.98	34	chr5	150077326	.	G	A	2881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.056e+00;DP=970;ExcessHet=0.0000;FS=1.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.09;SOR=0.611	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr5	177248247	177248247	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon11:c.G4564A:p.D1522N	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	YES	0	1515	7	0	0	7	0.00230491	.	.	168189	Inborn_genetic_diseases|Sotos_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.959	D	0.467	P	0.001	D	1.000	N	1.355	L	-3.13	D	0.380	D	0.719	D	0.08	3.200	16.72	5.22	2.425	5.283	14.499	0.292	0.110510588419	7.7e-05	0.000399361	0.0008	9.831e-05	0	0	0.0002	0.0001	0	0.0056	0.0006727	104	154602	rs201483724	0.0004	0.0004	0.0002	0.0006	0.0052	0.0004	0.0003	0.0048	0.0046	0	6.71e-05	0.0010	0	1.872e-05	0.0021	4.047e-05	0.0005	0.0052	0.0002	0.0002	0.0001	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	0	0	0.0002	0	0	0	0	4.41e-05	0.0009	0.0062	0.005	0.65419	D	0.16	0.32891	T	0.733	0.42736	P	0.297	0.40924	B	0.000638	0.42799	D	0.100459	0.790248	0.29234	N	0.975	0.24501	L	-3.13	0.92829	D	-0.75	0.21644	N	0.216	0.26596	0.380	0.88802	D	0.719	0.90357	D	10	0.0038702786	0.00073	T	0.110511	0.78792	D	0.292	0.61157	.	.	0.833201245306	0.83161	0.5360873676290298	0.53533	0.854676176152	0.68704	0.540032982826	0.44450	T	0.289476	0.66226	T	-0.339064	0.05454	T	-0.259415	0.48882	T	0.061409850690675	0.07389	T	0.89481	0.63428	D	0.07395513	0.16561	0.07599371	0.16786	0.093532324	0.21970	0.09044703	0.21209	-4.451	0.30494	T	0.6339361804830066	0.70369	0.108	0.21877	B	.;.;.	.;.;.	4.182297	0.62975	24.5	0.99862111859365854	0.94093	0.97561	0.75557	D	AEFDBI	0.403165	0.47696	N	0.154939479309402	0.49046	3.10946	0.16227301507575	0.47797	3.004488	0.989402529358865	0.31815	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	5.716000	0.68088	11.935000	0.99966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.8526:0.1474	14.499	0.67291	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2263.98	38	chr5	177248247	.	G	A	2263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.16;DP=929;ExcessHet=0.0000;FS=6.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-4.600e-02;SOR=1.132	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	YES	0	1455	66	1	0	68	0.0228341	.	.	105546	Congenital_stationary_night_blindness_1B|not_specified|not_provided|GRM6-related_disorder	MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.883	P	.	.	0.996	D	2.47	M	-2.23	D	0.649	D	0.767	D	0.764	4.278	22.4	5.16	2.575	1.436	16.538	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	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	0.04762	2746.11	35	chr5	178991554	.	C	A	2746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=888;ExcessHet=0.1072;FS=1.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.400e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1404	19	0	2	0
chr6	10791688	10791688	C	A	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon9:c.G1201T:p.D401Y	Retinitis pigmentosa 62, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	831362	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.897	P	0.392	B	0.651	N	1.000	D	2.005	M	-0.8	T	-0.327	T	0.319	T	0.481	1.539	11.10	5.14	2.545	4.999	17.166	0.325	0.161696620619	.	0.000798722	0.0003	0	0	0	0.0003	0.0002	0	0.0010	0.0002587	40	154602	rs201502742	0.0002	0.0002	0.0001	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0	6.72e-05	0	0	0.0003	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	3.856e-05	0.0002	0.0015	6.511e-05	5.322e-05	0.0007	0.0005	4.815e-05	0	0	0	0	0	0	0.0001	0	0.0015	0.001	0.78490	D	0.002	0.79402	D	0.897	0.49385	P	0.392	0.44215	B	0.650605	0.10516	N	0.855233	0.83138	0.81001	D	2.045	0.56016	M	-0.85	0.74371	T	-3.09	0.64363	D	0.358	0.39962	-0.3269	0.74225	T	0.319	0.68874	T	10	0.03055188	0.01183	T	0.161697	0.84144	D	0.325	0.64725	0.157	0.06070	0.848898762086	0.84745	0.21707828334580942	0.21623	0.529928466693	0.50547	0.314718008041	0.12621	T	0.132122	0.46201	T	-0.201637	0.20570	T	-0.159821	0.58368	T	0.190983681268227	0.19902	T	0.925907	0.72722	D	0.34108397	0.56366	0.36486036	0.61845	0.31011426	0.53796	0.36878636	0.62161	-4.405	0.29625	T	0.21653405689925576	0.29128	0.104	0.29339	B	.;.;.;.;.	.;.;.;.;.	4.170037	0.62695	24.5	0.9661503212514837	0.30459	0.98633	0.84938	D	AEFBI	0.505559	0.53665	D	0.341637559722135	0.58299	4.001384	0.313156959774708	0.56312	3.794397	0.999954861430024	0.48110	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	5.094000	0.64357	5.864000	0.50463	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.166	0.86696	819	0.41190	.;.;.;.;.	.	.	.	.	.	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	890.98	39	chr6	10791688	.	C	A	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e-01;DP=767;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.975;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr6	31967105	31967105	G	C	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon20:c.G2442C:p.W814C,	Trichohepatoenteric syndrome 2, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	.	.	895810	See_cases|Trichohepatoenteric_syndrome_2|not_provided|SKIC2-related_disorder	.|MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.781	P	0.000	D	1.000	D	0.895	L	1.0	T	-1.064	T	0.084	T	0.654	1.243	10.05	4.79	1.390	2.489	14.091	0.152	0.0132432397357	0.0006	0.000599042	0.0009	0.0002	0.0008	0.0001	0	0.0013	0	0.0004	0.0008344	129	154602	rs148221996	0.0009	0.0009	0.0008	0.0009	0.0055	0.0009	0.0008	0.0040	0.0035	0.0003	0.0012	0.0013	0	7.65e-05	0.0055	0.0009	0.0011	0.0007	0.0007	0.0007	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	7.217e-05	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.102	0.30235	T	0.182	0.29249	T	0.985	0.61118	D	0.781	0.57337	P	0.000149	0.49130	D	0.171563	0.999996	0.58761	D	1.5	0.37844	L	1.0	0.41392	T	-0.57	0.17210	N	0.514	0.54496	-1.0642	0.10736	T	0.084	0.32729	T	10	0.027136385	0.00865	T	0.013243	0.32488	T	0.152	0.39956	0.448	0.50793	0.488266720666	0.48458	0.6527026082036311	0.65206	1.01233321786	0.74823	0.479667007923	0.36010	T	0.045652	0.27188	T	-0.316006	0.07230	T	-0.267231	0.48100	T	0.0455885371250696	0.04710	T	.	.	.	0.41510364	0.61764	0.24289657	0.49721	0.41510364	0.61765	0.24289657	0.49720	-4.053	0.24594	T	.	.	0.513	0.65163	A	.	.	3.394735	0.47017	22.4	0.89525173881678322	0.18872	0.96015	0.67148	D	AEFGBI	0.527268	0.54928	D	0.31194114473843	0.56762	3.841381	0.332179747563783	0.57440	3.909722	0.999999785590353	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	1.444000	0.34679	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1505:0.8495:0.0	14.091	0.64519	923	0.18507	rRNA-processing arch 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	1670.98	35	chr6	31967105	.	G	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=834;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.217;SOR=0.516	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1432	20	0	1	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	YES	45	1469	6	2	0	10	0.00339213	0.9999	0.734	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.307	5.666	2.93	0.567	2.966	6.479	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1473.8	112	chr6	32580272	.	T	C	1473.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.295;DP=2507;ExcessHet=0.1072;FS=8.712;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=52.44;MQRankSum=0.203;QD=9.21;ReadPosRankSum=2.01;SOR=1.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:192,0:192:99:.:.:0,120,1800	18	0	2	1
chr6	33443686	33443686	C	G	exonic	SYNGAP1	.	nonsynonymous SNV	SYNGAP1:NM_001130066:exon14:c.C3092G:p.A1031G	Mental retardation, autosomal dominant 5, Autosomal dominant	YES	1	1519	2	0	0	2	0.000657895	.	.	395244	Intellectual_disability,_autosomal_dominant_5|Inborn_genetic_diseases|not_provided|SYNGAP1-related_disorder	MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.317	B	0.146	B	0.381	N	0.503	D	1.04	L	2.64	T	-0.981	T	0.011	T	0.168	1.643	11.45	3.19	0.906	3.032	6.907	0.024	.	.	0.00379393	0.0025	0.0001	0.0023	0.0310	0	4.607e-05	0	0	0.0021474	332	154602	rs139759084	0.0008	0.0008	0.0009	0.0008	0.0253	0.0008	0.0008	0.0240	0.0235	0	0.0026	0	0.0253	0	0.0003	9.893e-06	0.0012	9.275e-05	0.0013	0.0013	0.0011	0.0015	0.0270	0.0011	0.0011	0.0234	0.0220	0.0001	0	0.0027	0	0.0270	0	0	2.94e-05	0.0019	0	0.077	0.34269	T	0.375	0.17964	T	0.224	0.32920	B	0.066	0.33945	B	0.381211	0.13386	N	0.700444	0.502788	0.31755	D	0.895	0.22405	L	2.64	0.12780	T	-1.14	0.30762	N	0.122	0.11769	-0.9805	0.34886	T	0.011	0.04181	T	10	0.002538532	0.00038	T	.	.	.	0.024	0.04979	.	.	0.182106788282	0.17826	0.19469547739673357	0.19387	1.25117579951	0.81802	0.517065703869	0.41212	T	0.053143	0.29361	T	-0.573952	0.00210	T	-0.570759	0.15379	T	0.0121012419297249	0.00193	T	0.892111	0.62800	D	0.075084046	0.16893	0.1147146	0.27692	0.064548805	0.13705	0.114834115	0.27720	-3.246	0.14484	T	.	.	0.074	0.08754	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.633264	0.51480	23.1	0.98687264265153607	0.44709	0.95241	0.63962	D	AEFDBI	0.303555	0.41150	N	-0.203859866440724	0.32976	1.865678	-0.100853122219459	0.35356	2.044545	0.99994731375368	0.47345	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	4.09	3.19	0.35720	2.368000	0.43875	4.592000	0.43962	0.545000	0.25583	0.918000	0.31901	1.000000	0.68203	0.996000	0.76049	0.0:0.868:0.0:0.132	6.907	0.23493	490	0.76723	Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.;.;Domain of unknown function DUF3498	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1879.98	33	chr6	33443686	.	C	G	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.480e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D	.	YES	437	1043	40	2	0	44	0.0206573	.	.	239918	Spermatogenic_failure_46|Primary_ciliary_dyskinesia	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.302	B	0.229	B	0.076	N	1.000	N	0.53	N	0.15	T	-0.962	T	0.068	T	0.128	2.169	13.21	-2.42	-0.212	-1.650	1.224	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2961.11	34	chr6	38845636	.	G	T	2961.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.419e+00;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.995;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	19	0	2	0
chr6	38926054	38926054	G	A	splicing	DNAH8	NM_001206927:exon74:c.10963-1G>A;NM_001371:exon73:c.10312-1G>A	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	560845	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.338	22.8	5.86	2.776	8.249	18.380	.	.	0.0002	.	3.304e-05	0	0	0	0	4.504e-05	0	6.124e-05	2.59e-05	4	154602	rs376903331	1.369e-05	1.437e-05	1.226e-05	1.514e-05	1.62e-05	8.94e-06	7.27e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.62e-05	1.657e-05	1.164e-05	2.63e-05	2.627e-05	1.286e-05	4.038e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361263	0.87354	D	0.381783	0.91494	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.407365	0.90527	31	0.99535213927278687	0.70150	0.99587	0.97729	D	AEFBI	.	.	.	1.23872259916876	0.99826	27.81456	1.10626868635484	0.99825	27.79444	0.999998815652887	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.091713	0.02954	0	0.058706	0.01089	0	0.985854	0.93717	5.86	5.86	0.93936	4.710000	0.61563	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.380	0.90392	648	0.63242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	611.98	33	chr6	38926054	.	G	A	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=749;ExcessHet=0.0000;FS=2.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=1.00;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr6	52025360	52025360	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4450A:p.A1484T	Polycystic kidney and hepatic disease, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	493120	not_provided|Autosomal_recessive_polycystic_kidney_disease	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.008	B	0.412	N	1.000	N	-1.24	N	-2.1	D	-0.846	T	0.075	T	0.056	0.285	5.544	-3.28	-0.133	-0.615	4.815	0.215	0.0306340220002	0.0002	0.000199681	4.145e-05	0.0004	8.654e-05	0	0	0	0	0	4.53e-05	7	154602	rs144905283	4.174e-05	4.173e-05	5.038e-05	3.302e-05	0.0013	3.311e-05	3.002e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	1.799e-06	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	0	0	0	0.78	0.03289	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.13708	B	0.411809	0.12987	N	0.750850	1	0.08975	N	-0.945	0.01271	N	-2.1	0.87671	D	-0.47	0.17210	N	0.065	0.04547	-0.8458	0.52256	T	0.075	0.30335	T	10	0.017817289	0.00383	T	0.030634	0.52905	D	0.215	0.50805	.	.	0.581280949539	0.57799	0.19834101449503283	0.19751	0.0586537782296	0.06507	0.236583143473	0.02491	T	0.126816	0.45344	T	-0.516443	0.00461	T	-0.539239	0.18372	T	0.004966131444349	0.00053	T	0.541546	0.18382	T	0.032103617	0.03173	0.040385116	0.04352	0.026514502	0.01718	0.04287977	0.05206	-4.214	0.26954	T	0.08327343681140388	0.04480	0.064	0.01668	B	.;.	.;.	-0.619294	0.01519	0.097	0.75831361915125528	0.11228	0.01189	0.04253	N	AEFGBI	0.042774	0.06680	N	-1.4007629378744	0.02633	0.1165129	-1.27954527033694	0.04707	0.222687	0.0728189343758238	0.15613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	-3.28	0.04721	-0.610000	0.05724	-0.156000	0.11370	-0.838000	0.02813	0.000000	0.06391	0.000000	0.08366	0.554000	0.30269	0.3299:0.3497:0.0:0.3204	4.815	0.12728	775	0.48401	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1565.98	34	chr6	52025360	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=875;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.820e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr6	52050268	52050268	C	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2168T:p.R723L	Polycystic kidney and hepatic disease, Autosomal recessive	YES	0	1504	18	0	0	18	0.00594845	.	.	489852	Polycystic_kidney_disease_4|not_provided|Autosomal_recessive_polycystic_kidney_disease|not_specified	MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.166	B	0.066	B	0.018	N	1.000	N	1.905	M	-2.23	D	-0.651	T	0.380	T	0.269	2.808	15.35	3.76	1.393	0.746	7.709	0.675	.	0.0002	0.00259585	0.0017	0	0.0003	0.0001	0	0.0004	0.0011	0.0109	0.0015136	234	154602	rs150597050	0.0009	0.0009	0.0006	0.0012	0.0095	0.0009	0.0008	0.0090	0.0088	0.0002	0.0005	0.0004	2.52e-05	0	0.0050	0.0003	0.0012	0.0095	0.0007	0.0007	0.0004	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	4.812e-05	0	0.0009	0.0009	0.0002	0	0.0034	0.0003	0	0.0118	0.146	0.27310	T	0.098	0.39040	T	0.166	0.28547	B	0.03	0.27432	B	0.017707	0.27656	N	0.350509	0.999973	0.18612	N	2.47	0.71715	M	-2.23	0.88689	D	-2.97	0.61865	D	0.385	0.43803	-0.6509	0.62675	T	0.380	0.73706	T	10	0.009211212	0.00208	T	.	.	.	0.675	0.88013	.	.	0.939329616413	0.93869	0.5591541257757603	0.55842	0.207378967458	0.23197	0.33388876915	0.15520	T	0.596522	0.87006	D	-0.345135	0.05041	T	-0.260577	0.48768	T	0.0422822293805266	0.04106	T	0.813119	0.46553	T	0.10096875	0.23847	0.12958515	0.31155	0.14519054	0.33293	0.119494885	0.28840	-2.226	0.04168	T	0.4385702297441543	0.52448	0.198	0.42097	B	.;.	.;.	2.233190	0.28512	17.82	0.99639591157535723	0.76571	0.20341	0.21005	N	AEFBCI	0.185016	0.31234	N	-0.20796241389764	0.32808	1.854306	-0.109429959064427	0.35008	2.020373	0.96279671775821	0.28647	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.64	3.76	0.42368	0.782000	0.26449	0.553000	0.19438	0.599000	0.40250	0.514000	0.27064	0.095000	0.22593	0.959000	0.51448	0.1341:0.7203:0.0:0.1456	7.709	0.27830	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	2016.98	39	chr6	52050268	.	C	A	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=925;ExcessHet=0.0000;FS=2.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.00;SOR=0.509	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr6	73500589	73500589	C	A	exonic	MTO1	.	nonsynonymous SNV	MTO1:NM_012123:exon12:c.C1933A:p.R645S	Combined oxidative phosphorylation deficiency 10, Autosomal recessive	YES	2	1516	4	0	0	4	0.00131752	.	.	389130	Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency|not_provided|Abnormal_brain_morphology	MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.295	M	.	.	0.267	D	0.544	D	0.913	4.648	25.5	5.48	2.563	4.354	17.108	0.694	0.024494916297	.	.	4.963e-05	0	0	0	0	1.503e-05	0.0011	0.0002	3.88e-05	6	154602	rs746382157	3.287e-05	3.489e-05	2.044e-05	4.543e-05	0.0004	2.546e-05	2.251e-05	0.0003	0.0003	0	0	0	0	0	0.0003	6.298e-06	4.972e-05	0.0004	6.573e-06	6.568e-06	0	1.346e-05	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.014	0.78490	D	0.01	0.83351	D	1.0	0.90584	D	0.987	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	4.045	0.97016	H	.	.	.	-5.2	0.83695	D	0.756	0.87590	0.267	0.87016	D	0.544	0.83222	D	9	0.8349378	0.82651	D	0.024495	0.47488	T	0.694	0.88913	0.697	0.83406	0.881788646564	0.88063	0.8676891127275673	0.86733	0.939492545994	0.72166	0.608762145042	0.54140	T	0.627462	0.88409	D	0.254789	0.79048	D	0.420359	0.92755	D	0.974554538726807	0.70557	D	0.937606	0.99955	D	0.90945464	0.92244	0.83927643	0.90790	0.88609356	0.90176	0.85342854	0.91734	-11.166	0.80561	D	0.3926865676295587	0.48565	0.880	0.86921	P	.;.;.;.	.;.;.;.	5.264390	0.88397	29.6	0.99823969153537084	0.90677	0.94468	0.61262	D	AEFBI	0.644235	0.62056	D	0.859838627434628	0.89662	10.06419	0.79329861882849	0.89325	9.928327	0.783038553029033	0.23879	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.48	5.48	0.80675	4.742000	0.61798	7.493000	0.59393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.108	0.86544	909	0.22467	.;.;.;GidA associated domain 3	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	33	chr6	73500589	.	C	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=762;ExcessHet=0.0000;FS=3.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.213;SOR=1.067	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
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	83191208	83191208	G	A	exonic	PGM3	.	stopgain	PGM3:NM_001199917:exon2:c.C61T:p.Q21X	Immunodeficiency 23, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	1060913	PGM3-related_disorder|not_provided|Immunodeficiency_23	.|MedGen:C3661900|MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.966	12.53	0.641	0.112	-0.103	5.926	.	.	.	.	8.881e-05	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs753019951	2.604e-05	2.463e-05	3.427e-05	1.759e-05	0.0004	1.906e-05	1.692e-05	6.163e-05	2.548e-05	0	5.602e-05	0.0002	0	0	0.0004	2.412e-05	3.456e-05	0	2.632e-05	2.627e-05	2.572e-05	2.695e-05	6.551e-05	8.15e-06	5.15e-06	.	.	0	0	6.551e-05	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.474	0.50958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.206119	0.19930	T	-0.338217	0.40546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	0.134315	0.05294	1.788	0.98311393629684474	0.40144	0.07020	0.13047	N	AEFDGBCI	0.030805	0.03169	N	-0.0400992814840478	0.40046	2.371584	-0.445766089167176	0.23669	1.291985	0.999858373543403	0.44174	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.605231	0.38476	0	.	.	3.47	0.641	0.16930	-0.098000	0.10993	0.693000	0.20782	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3551:0.0:0.6449:0.0	5.926	0.18352	713	0.56348	.;.;.	.	.	.	.	.	Likely pathogenic	1	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	888.98	33	chr6	83191208	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=805;ExcessHet=0.0000;FS=4.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.649;SOR=0.434	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1277	20	0	1	0
chr6	87477478	87477478	A	G	exonic	SLC35A1	.	nonsynonymous SNV	SLC35A1:NM_001168398:exon2:c.A133G:p.T45A	Congenital disorder of glycosylation, type IIf, Autosomal recessive	YES	1	1511	10	0	0	10	0.00329815	.	.	301212	not_specified|SLC35A1-related_disorder|SLC35A1-congenital_disorder_of_glycosylation|not_provided	MedGen:CN169374|.|MONDO:MONDO:0011342,MedGen:C1970344,OMIM:603585,Orphanet:238459|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.953	D	0.000	U	1.000	D	2.93	M	0.97	T	-0.425	T	0.250	T	0.892	4.928	28.5	5.62	2.136	7.508	15.832	0.540	0.0326612292779	0.0035	0.00119808	0.0028	0.0004	0.0008	0	0.0045	0.0040	0.0011	0.0015	0.0027943	432	154602	rs145006535	0.0036	0.0036	0.0036	0.0035	0.0040	0.0035	0.0035	0.0039	0.0039	0.0006	0.0010	0.0010	0	0.0048	0.0016	0.0040	0.0032	0.0018	0.0025	0.0025	0.0024	0.0026	0.0041	0.0023	0.0022	0.0037	0.0035	0.0006	0.0154	0.0013	0.0023	0	0.0028	0	0.0041	0.0024	0.0008	0.005	0.68238	D	0.014	0.66756	D	0.997	0.70673	D	0.849	0.60615	P	0.000000	0.84330	U	0.000000	1	0.81001	D	2.79	0.81396	M	0.97	0.42502	T	-2.79	0.60982	D	0.736	0.77132	-0.4255	0.71213	T	0.250	0.61946	T	10	0.014591694	0.00307	T	0.032661	0.54424	D	0.540	0.80782	.	.	0.669058721763	0.66626	0.41167186885854895	0.41083	0.33965915445	0.35915	0.641223311424	0.58737	T	0.489453	0.86259	T	-0.0692385	0.41448	T	0.128583	0.78799	D	0.037991445227548	0.03331	T	0.921908	0.79334	D	0.4921462	0.66631	0.49747592	0.70942	0.49817705	0.66989	0.46913233	0.69210	-6.967	0.53792	T	0.4432579889255138	0.52839	0.476	0.63481	A	.;.;.;.	.;.;.;.	3.788783	0.54517	23.5	0.99808159561152143	0.89264	0.98559	0.84088	D	AEFBI	0.912368	0.87290	D	0.848798447708377	0.89040	9.810794	0.810342641673003	0.90504	10.43721	0.999999753741063	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	7.494000	0.80344	5.240000	0.48059	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.832	0.78534	819	0.41190	.;.;.;.	.	.	.	.	.	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	757.98	33	chr6	87477478	.	A	G	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=758;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.020;SOR=0.780	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr6	118924037	118924037	C	T	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378356:exon3:c.G395A:p.R132Q	Ovarian dysgenesis 4, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	.	.	1.000	D	2.995	M	3.15	T	-1.022	T	0.076	T	0.92	5.409	34	5.48	2.562	5.452	19.353	0.430	0.0895607262279	.	0.000199681	7.413e-05	9.612e-05	0	0.0008	0	1.498e-05	0	0	0.0001229	19	154602	rs367896634	5.814e-05	5.814e-05	6.398e-05	5.225e-05	0.0006	4.809e-05	4.431e-05	0.0004	0.0003	0	6.708e-05	0	0.0006	0	0	1.169e-05	0.0008	0	8.536e-05	8.53e-05	0.0001	5.371e-05	0.0014	4.954e-05	3.96e-05	0.0006	0.0004	2.407e-05	0	0.0001	0	0.0014	0	0	1.47e-05	0.0009	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.81	0.81869	M	3.15	0.07820	T	-3.81	0.71882	D	0.581	0.60664	-1.0225	0.22899	T	0.076	0.30645	T	9	0.45598632	0.58992	T	0.089561	0.75350	D	0.430	0.73662	0.788	0.91068	0.76190393038	0.75974	0.7251166702696283	0.72455	0.589894200002	0.54471	0.610629141331	0.54405	T	0.532988	0.83872	D	-0.00397439	0.51105	T	0.0865159	0.76013	D	0.888510942459106	0.53912	D	0.974802	0.91047	D	0.7238365	0.79375	0.6512525	0.79593	0.7238365	0.79377	0.6512525	0.79594	-12.265	0.86117	D	.	.	0.379	0.65951	A	.;.;.;.	.;.;.;.	4.962159	0.82058	27.7	0.99955486681095174	0.99975	0.99301	0.94181	D	AEFBI	0.606657	0.59691	D	0.853467274942053	0.89305	9.91746	0.800991422546826	0.89862	10.15304	0.999999985382488	0.74766	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	5.527000	0.66837	5.939000	0.51448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.353	0.94387	494	0.76445	MCM OB domain;MCM OB domain;MCM OB 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	2548.98	39	chr6	118924037	.	C	T	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1044;ExcessHet=0.0000;FS=2.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-2.420e-01;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1190	20	0	1	0
chr6	129280072	129280072	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon18:c.C2462T:p.T821M	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	172223	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|not_specified|Intellectual_disability|not_provided|LAMA2-related_muscular_dystrophy	MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	N	1.000	D	3.1	M	0.01	T	-0.061	T	0.405	T	0.414	3.111	16.39	3.96	0.780	3.574	12.755	0.537	0.534587470134	0.0024	0.000798722	0.0020	0.0005	0.0004	0.0007	0.0036	0.0028	0.0022	0.0013	0.0020246	313	154602	rs117422805	0.0024	0.0024	0.0024	0.0023	0.0026	0.0023	0.0023	0.0026	0.0025	0.0003	0.0008	0.0008	0.0012	0.0034	0.0017	0.0026	0.0018	0.0012	0.0017	0.0017	0.0018	0.0016	0.0026	0.0015	0.0014	0.0023	0.0022	0.0005	0.0011	0.0007	0.0006	0.0004	0.0036	0	0.0026	0.0005	0.0010	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	N	0.059782	0.999949	0.51968	D	3.79	0.95329	H	0.01	0.62459	T	-4.52	0.78302	D	0.562	0.78832	-0.0613	0.80965	T	0.405	0.75508	T	10	0.055688918	0.06126	T	0.534587	0.95638	D	0.537	0.80605	.	.	0.846110259052	0.84463	0.3969284616517866	0.39607	0.468827387035	0.46213	0.300332546234	0.10450	T	0.061939	0.59930	T	-0.30263	0.08413	T	-0.207354	0.53948	T	0.0803849729750813	0.10036	T	0.779622	0.41374	T	0.7606475	0.81491	0.6352263	0.78706	0.67856455	0.76893	0.7139694	0.83121	-11.775	0.83737	D	0.7108184403532831	0.79101	0.139	0.30291	B	.;.;.	.;.;.	3.224412	0.43945	21.8	0.99795527719205557	0.88106	0.95066	0.63314	D	AEFGBI	0.562920	0.57032	D	0.330916226444623	0.57741	3.942723	0.244956140587324	0.52362	3.411625	0.993352472638288	0.33183	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.72	3.96	0.45097	3.643000	0.54109	0.861000	0.22228	-0.860000	0.02636	0.995000	0.38783	0.275000	0.24072	0.661000	0.32996	0.0:0.8665:0.0:0.1335	12.755	0.56701	808	0.43318	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like 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	3386.98	33	chr6	129280072	.	C	T	3386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=972;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-7.700e-02;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1350	20	0	1	0
chr6	149378579	149378579	C	T	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.C664T:p.P222S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.608	P	0.098	B	0.000	D	1.000	D	0.06	N	-0.72	T	-0.860	T	0.102	T	0.472	0.267	5.446	5.5	2.584	5.305	19.387	0.259	0.025081169738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.273	0.22154	T	0.608	0.39540	P	0.098	0.30479	B	0.000005	0.62929	D	0.111756	0.999528	0.47407	D	0.695	0.17993	N	-0.73	0.73100	T	-0.65	0.18877	N	0.407	0.44761	-0.8604	0.51234	T	0.102	0.37768	T	10	0.24907327	0.42214	T	0.025081	0.48061	D	0.259	0.57090	0.33	0.31519	0.441518658318	0.43770	0.13569958080695674	0.13493	0.317607766921	0.34000	0.606817901134	0.53866	T	0.157821	0.50058	T	0.011091	0.53175	T	-0.221845	0.52560	T	0.362615168094635	0.27511	T	0.864814	0.56255	D	0.06484723	0.13799	0.11935702	0.28810	0.06484723	0.13799	0.11935702	0.28810	-3.202	0.12505	T	0.17470558111144455	0.22202	0.067	0.02894	B	.;.;.	.;.;.	2.144452	0.27310	17.42	0.91044826223881903	0.20296	0.96302	0.68477	D	AEFGBI	.	.	.	-0.0848130326801947	0.38057	2.223292	0.0863139490010132	0.43857	2.678998	0.999979799015855	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	5.378000	0.65942	6.126000	0.53851	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.387	0.94553	761	0.50382	.;.;.	.	.	.	.	.	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	0.04762	6029.08	33	chr6	149378579	.	C	T	6029.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1150;ExcessHet=0.0000;FS=3.032;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=32.07;ReadPosRankSum=1.46;SOR=0.110	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	1	0	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
chr6	162443380	162443380	T	C	exonic	PRKN	.	nonsynonymous SNV	PRKN:NM_004562:exon2:c.A101G:p.Q34R	Adenocarcinoma of lung, somatic;Adenocarcinoma, ovarian, somatic;Parkinson disease, juvenile, type 2, Autosomal recessive	YES	3	1515	4	0	0	4	0.00131839	.	.	455534	not_provided|Autosomal_recessive_juvenile_Parkinson_disease_2|not_specified	MedGen:C3661900|MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.993	D	0.000	D	1.000	D	2.42	M	-0.88	T	0.130	D	0.528	D	0.578	4.351	22.9	5.63	2.263	2.718	16.131	0.595	.	0.0025	0.0081869	0.0034	0.0094	0.0009	0.0001	0	1.5e-05	0.0022	0.0184	0.0030853	477	154602	rs148851677	0.0014	0.0014	0.0010	0.0017	0.0166	0.0013	0.0013	0.0159	0.0156	0.0109	0.0007	0	0.0002	0	0.0009	2.88e-05	0.0022	0.0166	0.0033	0.0033	0.0031	0.0034	0.0162	0.0030	0.0029	0.0133	0.0122	0.0096	0	0.0007	0	0.0002	0	0	0	0.0033	0.0162	0.026	0.48642	D	0.066	0.44501	T	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.973898	0.81001	D	.	.	.	-0.88	0.74689	T	-1.94	0.47514	N	0.364	0.44857	0.130	0.84715	D	0.528	0.82453	D	10	0.011427194	0.00250	T	.	.	.	0.595	0.83911	.	.	0.920662201329	0.91985	0.6744385748929309	0.67381	0.370885923186	0.38597	0.451648652554	0.32169	T	0.215053	0.57682	T	-0.283903	0.10259	T	-0.166957	0.57722	T	0.0140150988072815	0.00270	T	0.715328	0.32778	T	0.7590895	0.81399	0.66654766	0.80446	0.76944906	0.82016	0.6756957	0.80957	-5.883	0.82341	T	0.27883801795347196	0.37380	0.174	0.59865	B	.;.;.;.	.;.;.;.	3.756678	0.53882	23.4	0.99844308664107051	0.92403	0.80530	0.40143	D	AEFDGCIJ	0.509174	0.53875	D	0.66882249893939	0.77592	6.704351	0.64370477078755	0.78143	6.817274	0.999992889324479	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	2.696000	0.46719	5.040000	0.46903	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.131	0.81247	979	0.04160	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain;.;.;Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1553.98	33	chr6	162443380	.	T	C	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-7.690e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	YES	0	1491	30	1	0	32	0.0106171	.	.	363971	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures|BRAT1-related_disorder|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures	MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|.|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.19	M	-0.87	T	0.084	D	0.472	T	0.888	3.939	20.1	5.42	2.058	5.474	14.012	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2434.98	34	chr7	2542173	.	A	C	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=932;ExcessHet=0.0000;FS=3.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.578e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	5986829	5986829	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon9:c.A1618G:p.R540G	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	833743	Lynch_syndrome_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.999	D	0.000	D	1.000	D	2.295	M	0.97	T	-0.734	T	0.238	T	0.921	2.673	14.90	3.33	0.421	2.214	12.597	0.355	0.117213935038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.65419	D	0.048	0.48594	D	0.979	0.90584	D	0.833	0.92359	P	0.000000	0.84330	D	0.000000	0.999919	0.81001	D	2.81	0.81869	M	0.97	0.42502	T	-4.54	0.81107	D	0.844	0.83987	-0.7335	0.58786	T	0.238	0.60607	T	10	0.3921356	0.54967	T	0.117214	0.79693	D	0.355	0.67600	0.373	0.38503	0.723048560196	0.72059	0.5959563753458492	0.59525	0.296104068149	0.31993	0.388001412153	0.23389	T	0.316536	0.68806	T	0.226339	0.76376	D	0.0873442	0.76068	D	0.981092631816864	0.73718	D	0.906909	0.67118	D	0.5796098	0.71587	0.39073834	0.63862	0.5796098	0.71588	0.39073834	0.63862	-10.463	0.76634	D	0.5979010227625151	0.66483	0.472	0.69534	A	.;.;.;.;.	.;.;.;.;.	3.301441	0.45322	22.1	0.99713166144396814	0.81493	0.91004	0.52673	D	AEFBI	0.309300	0.41564	N	0.205505879174559	0.51465	3.327566	0.0894206663040702	0.44013	2.691503	3.52874101178162E-4	0.06668	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.82	3.33	0.37245	2.102000	0.41421	1.587000	0.27508	0.661000	0.55757	0.990000	0.36992	0.996000	0.32793	0.832000	0.39227	0.0:0.0:0.4029:0.5971	12.597	0.55833	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1203.98	33	chr7	5986829	.	T	C	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.54;MQRankSum=-4.000e-02;QD=13.23;ReadPosRankSum=-1.235e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1212	20	0	1	0
chr7	5992008	5992008	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.A635G:p.Y212C	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	50161	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PMS2-related_disorder|Lynch_syndrome_4|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:CN169374|MeSH:D003123,MedGen:C0009405	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.000	D	1.000	D	2.875	M	-1.99	D	0.697	D	0.774	D	0.877	3.207	16.74	5.4	2.045	7.667	15.412	0.832	0.0454776446971	0.0004	0.000199681	0.0004	0	0.0005	0	0	0.0004	0.0034	0.0003	0.0002846	44	154602	rs139438201	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0071	0	0	0.0003	4.727e-05	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.846e-05	1.858e-05	4.811e-05	0	0.0001	0.0055	0	0	0	7.349e-05	0.0009	0	0.024	0.61437	D	0.06	0.45744	T	1.0	0.90584	D	0.981	0.75168	D	0.000055	0.53742	D	0.130172	1	0.81001	D	3.365	0.91266	M	-1.99	0.85320	D	-7.1	0.93974	D	0.94	0.94668	0.697	0.93141	D	0.774	0.92325	D	10	0.04951796	0.04552	T	0.045478	0.61998	D	0.832	0.94691	.	.	0.923305348147	0.92252	0.630275955280824	0.62961	0.293512613635	0.31773	0.763504803181	0.76452	T	0.639538	0.88928	D	0.159248	0.70130	D	0.327231	0.89396	D	0.206025939645237	0.20744	T	0.961304	0.89491	D	0.828623	0.85807	0.7100386	0.82897	0.91380346	0.92653	0.7608746	0.85872	-14.104	0.93389	D	0.6167088525677732	0.68471	0.335	0.62874	B	.;.;.;.;.	.;.;.;.;.	5.159714	0.86445	28.9	0.99658063480598968	0.77757	0.99609	0.97952	D	AEFGBI	0.892392	0.82928	D	0.497969895187631	0.66970	5.019781	0.418689667694996	0.62730	4.493386	0.999995368215801	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.674000	0.83146	7.756000	0.68219	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.412	0.74652	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1955.98	34	chr7	5992008	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=898;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=1.03;QD=12.15;ReadPosRankSum=0.303;SOR=0.934	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	21658835	21658835	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon30:c.A5132G:p.Q1711R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	4	1506	12	0	0	12	0.00396825	.	.	221686	not_specified|DNAH11-related_disorder|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.647	N	1.000	N	.	.	0.26	T	-1.038	T	0.053	T	0.088	-1.504	0.017	2.36	0.520	0.633	8.451	0.072	0.00670184145786	0.0007	0.00119808	0.0012	0.0002	0.0028	0	0	0.0018	0.0025	0.0004	0.0005498	85	154602	rs189432084	0.0005	0.0005	0.0004	0.0005	0.0108	0.0004	0.0004	0.0086	0.0079	0.0006	0.0008	0.0007	0	0	0.0108	0.0004	0.0012	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0004	0.0006	0	0	0.0068	0.0005	0.0009	0.0002	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.647012	0.10547	N	0.856163	1	0.08975	N	.	.	.	0.26	0.59314	T	0.99	0.01428	N	0.206	0.24883	-1.0384	0.17802	T	0.053	0.22617	T	9	0.0073883235	0.00168	T	0.006702	0.17699	T	0.072	0.21020	.	.	0.353974658523	0.35008	0.18141748728031518	0.18060	.	.	0.309853613377	0.11885	T	0.068139	0.33380	T	-0.528527	0.00392	T	-0.625883	0.10728	T	0.00801070365834025	0.00095	T	0.692631	0.30204	T	0.09059655	0.21204	0.1836126	0.41361	0.09059655	0.21204	0.1836126	0.41360	-2.627	0.06711	T	0.06823185531518619	0.02462	0.062	0.01215	B	.;.;.	.;.;.	0.683830	0.10526	7.236	0.16663141205606449	0.00456	0.10226	0.15791	N	AEFI	0.069758	0.13821	N	-0.870129291932799	0.11557	0.5584072	-0.82717253243323	0.13837	0.7199826	2.3902980708693E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	2.36	0.28258	0.471000	0.21811	2.988000	0.35869	0.731000	0.85647	0.000000	0.06391	0.065000	0.22112	0.621000	0.31922	0.641:0.0:0.359:0.0	8.451	0.32030	706	0.57215	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	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	550.98	33	chr7	21658835	.	A	G	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=737;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	20	0	1	0
chr7	21901198	21901198	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon82:c.G13495A:p.E4499K,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	0	1503	19	0	0	19	0.00628099	.	.	229591	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_7	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.009	N	1.000	D	.	.	3.21	T	-0.900	T	0.007	T	0.161	-1.009	0.248	0.464	-0.362	1.057	8.917	0.032	.	0.0020	0.00299521	0.0040	0.0004	0.0008	0.0020	0.0248	0.0035	0.0078	0.0032	0.0037128	574	154602	rs143362381	0.0036	0.0036	0.0036	0.0036	0.0043	0.0036	0.0035	0.0031	0.0030	0.0008	0.0012	0.0004	0.0017	0.0232	0.0043	0.0032	0.0027	0.0025	0.0040	0.0040	0.0028	0.0052	0.0031	0.0037	0.0036	0.0026	0.0025	0.0007	0	0.0024	0	0.0019	0.0290	0.0034	0.0030	0.0019	0.0031	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.009282	0.30429	N	0.412335	1	0.81001	D	.	.	.	3.21	0.07125	T	3.09	0.00129	N	0.156	0.16168	-0.9003	0.47962	T	0.007	0.02282	T	9	0.002060622	0.00029	T	.	.	.	0.032	0.07718	.	.	0.0846915920261	0.08053	0.16280028807902414	0.16200	.	.	0.277374863625	0.07129	T	0.013292	0.11527	T	-0.627998	0.00098	T	-0.674997	0.07292	T	0.00187411544808209	0.00019	T	0.517048	0.16713	T	0.024502672	0.01289	0.07466748	0.16358	0.03026252	0.02660	0.09242625	0.21782	-1.473	0.01710	T	0.0746207692164072	0.03251	0.067	0.02578	B	.;.;.	.;.;.	0.561602	0.09303	6.083	0.65798481415480237	0.07875	0.04817	0.10541	N	AEFGBI	0.043922	0.07004	N	-1.41959815687533	0.02467	0.108966	-1.33772817820881	0.03952	0.1854431	0.355524989978658	0.19726	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	0.464	0.15918	1.042000	0.29914	1.401000	0.26197	-0.550000	0.04901	0.199000	0.24297	0.109000	0.22772	0.312000	0.24784	0.6047:0.2858:0.1095:0.0	8.917	0.34747	829	0.39537	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2575.98	46	chr7	21901198	.	G	A	2575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=1081;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-1.060e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,119,1800	20	0	1	0
chr7	30971980	30971980	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G482A:p.R161Q,	Growth hormone deficiency, isolated, type IB	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.525	H	1.22	T	-0.173	T	0.316	T	0.929	4.765	26.7	4.66	2.399	8.764	15.093	0.598	0.14232649169	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1423511225	1.231e-05	1.231e-05	1.225e-05	1.238e-05	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	7.493e-05	0	1.079e-05	3.312e-05	0	6.578e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999978	0.81001	D	3.63	0.94006	H	1.22	0.37052	T	-3.89	0.73151	D	0.945	0.95256	-0.1733	0.78347	T	0.316	0.68602	T	9	0.98841184	0.99257	D	0.142326	0.82470	D	0.598	0.84074	0.967	0.99679	0.567895071198	0.56453	0.8721766384150222	0.87183	0.519879735987	0.49802	0.502553582191	0.39183	T	0.581754	0.86315	D	0.310365	0.83774	D	0.208042	0.83563	D	0.998424291610718	0.94111	D	0.969503	0.97531	D	0.89280576	0.90749	0.8049431	0.88580	0.89280576	0.90750	0.8049431	0.88581	-11.308	0.81320	D	0.7420922183359305	0.82418	0.433	0.61342	A	.;.	.;.	5.601100	0.92456	32	0.99939332263391323	0.99734	0.98719	0.85981	D	AEFDGBI	0.892877	0.83026	D	0.919001468993172	0.92659	11.55222	0.811484327488168	0.90581	10.473	0.999999995018801	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	4.66	0.57857	9.568000	0.97316	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.209000	0.22154	0.0:0.0:1.0:0.0	15.093	0.71881	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	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	2355.98	38	chr7	30971980	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=886;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=-5.000e-02;SOR=0.630	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	20	0	1	0
chr7	33357864	33357864	G	A	exonic	BBS9	.	nonsynonymous SNV	BBS9:NM_001348044:exon12:c.G1091A:p.R364Q	Bardet-Biedl syndrome 9, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	252810	not_specified|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9|Bardet-Biedl_syndrome_1	MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.14	T	0.871	P	0.586	P	0.000	D	1.000	D	1.95	M	2.14	T	-1.196	T	0.029	T	0.372	4.435	23.6	5.94	2.823	3.641	11.656	0.080	.	0.0117	0.00858626	0.0029	0.0314	0.0010	0	0	0.0002	0.0055	0.0001	0.0027167	420	154602	rs34218557	0.0010	0.0010	0.0011	0.0008	0.0329	0.0009	0.0009	0.0312	0.0306	0.0329	0.0016	0	0	1.875e-05	0.0003	0.0001	0.0018	0.0001	0.0086	0.0086	0.0091	0.0081	0.0300	0.0082	0.0080	0.0286	0.0281	0.0300	0	0.0022	0	0	0	0.0034	8.861e-05	0.0090	0	0.005	0.63226	D	0.015	0.61642	D	0.792	0.47859	P	0.328	0.50343	B	0.000159	0.49130	D	0.128329	0.987233	0.41742	D	2.045	0.56016	M	2.14	0.19450	T	-3.12	0.63782	D	0.518	0.57348	-1.1964	0.00179	T	0.029	0.12497	T	10	0.0072534382	0.00165	T	.	.	.	0.080	0.23350	.	.	0.501247319706	0.49760	0.5480046693721975	0.54726	0.177799176381	0.20007	0.451767086983	0.32185	T	0.193484	0.54896	T	-0.45226	0.01095	T	-0.399419	0.33453	T	0.0337267402016628	0.02591	T	0.929107	0.80823	D	0.41228387	0.61574	0.3001707	0.56051	0.48059824	0.65937	0.40339193	0.64796	-8.435	0.65116	D	0.484081918983691	0.56218	0.146	0.32251	B	.;.;.;.	.;.;.;.	3.831913	0.55391	23.6	0.99952337751656739	0.99951	0.81063	0.40548	D	AEFCI	0.381657	0.46383	N	0.523899008611477	0.68508	5.22669	0.583864498926327	0.73784	6.027329	0.956875047626851	0.28271	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.94	5.94	0.96165	3.534000	0.53324	6.653000	0.56222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.1104:0.0:0.8896:0.0	11.656	0.50578	744	0.52588	PTHB1, C-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1459.98	35	chr7	33357864	.	G	A	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.570e-01;DP=815;ExcessHet=0.0000;FS=4.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.435;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	YES	420	1065	36	1	0	38	0.0175277	.	.	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.172	B	0.025	B	0.924	N	1.000	N	0.695	N	1.9	T	-1.006	T	0.042	T	0.113	0.671	7.591	2.69	0.267	0.765	6.861	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	34	chr7	47853147	.	A	G	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=761;ExcessHet=0.0000;FS=2.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.810e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1133	20	0	1	0
chr7	66089678	66089678	G	A	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024944:exon12:c.G985A:p.V329I	Argininosuccinic aciduria, Autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	562137	Argininosuccinate_lyase_deficiency|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900,Orphanet:23|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.003	B	0.008	B	0.007	N	1.000	D	1.37	L	-5.49	D	0.847	D	0.901	D	0.2	3.185	16.66	3.27	1.167	3.442	10.878	0.417	0.767061574431	.	.	3.377e-05	0.0002	0	0	0	3.071e-05	0	0	3.23e-05	5	154602	rs372774556	1.642e-05	1.71e-05	1.498e-05	1.788e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	8.961e-05	2.237e-05	0	0	0	0.0007	7.196e-06	9.936e-05	2.319e-05	4.601e-05	4.597e-05	5.14e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.066	0.36709	T	0.074	0.43159	T	0.0	0.02946	B	0.004	0.10090	B	0.006580	0.31942	N	0.287960	0.999998	0.58761	D	1.705	0.44259	L	-5.49	0.99138	D	-0.79	0.22727	N	0.306	0.34552	0.847	0.94993	D	0.901	0.96728	D	10	0.3841306	0.54414	T	0.767062	0.98155	D	0.426	0.73372	.	.	0.772969789451	0.77088	0.4640831040065916	0.46327	0.214777660521	0.24017	0.470051646233	0.34688	T	0.333204	0.70308	T	-0.0564629	0.43457	T	-0.082213	0.64741	T	0.0393144343705906	0.03566	T	0.90251	0.65969	D	0.088668205	0.20692	0.058937516	0.10977	0.088668205	0.20692	0.058937516	0.10977	-7.332	0.56422	T	0.27305654431238924	0.36701	0.098	0.29311	B	.;.;.;.;.	.;.;.;.;.	3.859400	0.55956	23.7	0.99557602303616932	0.71583	0.91689	0.54055	D	AEFDBI	0.731633	0.67865	D	-0.151347175078262	0.35176	2.017264	-0.016678462299334	0.38961	2.303016	0.175600548627444	0.17799	0.732398	0.92422	0	0.643519	0.57511	0	0.570548	0.19454	0	0.727631	0.95156	0	.	.	5.09	3.27	0.36580	4.112000	0.57585	3.165000	0.36586	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1552:0.0:0.8448:0.0	10.878	0.46131	474	0.77851	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	37	chr7	66089678	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=868;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-6.830e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr7	74779296	74779296	G	A	exonic	NCF1	.	nonsynonymous SNV	NCF1:NM_000265:exon4:c.G269A:p.R90H,	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive	YES	2	1502	14	4	0	22	0.00727032	.	.	1287300	Granulomatous_disease,_chronic,_X-linked|not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1	MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379|MedGen:C3661900|MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.786	P	0.172	B	0.000	D	1.000	D	3.635	H	-2.17	D	0.565	D	0.668	D	0.652	3.318	17.16	3.38	1.631	7.168	14.142	0.794	0.474966757152	.	.	0.0010	0.0023	0.0005	0.0035	0.0010	0.0008	0.0024	0.0004	0.0009896	153	154602	rs201802880	0.0002	0.0008	8.33e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0.0003	0.0001	0	0.0011	0.0002	0.0002	1.53e-05	0.0001	0.0015	0.0005	0.0026	0.0004	0.0005	0.0011	0.0004	0.0003	0.0008	0.0007	0.0011	0	0.0003	0.0003	0.0004	9.87e-05	0	0.0001	0.0020	0.0011	0.029	0.45756	D	0.002	0.79402	D	0.786	0.44460	P	0.172	0.35394	B	0.000003	0.62929	D	0.051113	1	0.81001	D	3.335	0.90898	M	-2.17	0.86624	D	-4.24	0.76015	D	0.672	0.67995	0.565	0.91440	D	0.668	0.88490	D	10	0.066622585	0.09164	T	0.474967	0.94744	D	0.794	0.93227	.	.	0.916221141918	0.91538	0.8084570979808826	0.80800	.	.	0.641775965691	0.58817	T	0.442933	0.78691	T	0.215827	0.75381	D	0.0722445	0.75060	D	0.105522214803748	0.12953	T	0.79652	0.44001	T	0.65046906	0.75389	0.49485186	0.70785	0.65046906	0.75390	0.49485186	0.70785	-11.335	0.81463	D	0.6315129122151859	0.70097	0.334	0.55521	B	.	.	4.519268	0.70844	25.6	0.99859784191756595	0.93820	0.96319	0.68558	D	AEFI	0.904555	0.85500	D	0.309306367838002	0.56624	3.82752	0.28228216539751	0.54503	3.615292	0.99180166495867	0.32614	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	7.271000	0.77894	9.449000	0.80847	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:0.0:1.0:0.0	14.142	0.64858	958	0.09170	Phox homologous domain|Phox homologous domain|Phox homologous domain|Neutrophil cytosol factor 1, PX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	59.1	49	chr7	74779296	.	G	A	59.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.63;DP=870;ExcessHet=0.1072;FS=47.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.14;MQRankSum=-5.209e+00;QD=0.33;ReadPosRankSum=-2.007e+00;SOR=5.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	19	0	2	0
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	94618810	94618810	C	T	exonic	SGCE	.	nonsynonymous SNV	SGCE:NM_001301139:exon4:c.G487A:p.A163T	Dystonia-11, myoclonic, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.08	M	-4.87	D	1.103	D	0.959	D	0.716	4.714	26.2	5.66	2.834	7.818	20.112	0.810	0.184234258342	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868284377	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.72154	D	0.016	0.74150	D	0.997	0.77913	D	0.988	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	-4.87	0.98279	D	-3.5	0.68999	D	0.943	0.96302	1.103	0.99778	D	0.959	0.98690	D	10	0.94150186	0.93476	D	0.184234	0.85736	D	0.810	0.93854	0.834	0.94231	0.925314684063	0.92455	0.9194902772778509	0.91925	0.739026755692	0.63142	0.876112878323	0.93430	D	0.856585	0.99873	D	0.366	0.87718	D	0.288244	0.87560	D	0.960983252037279	0.65956	D	0.954805	0.84924	D	0.40985584	0.61409	0.5000297	0.71094	0.40985584	0.61409	0.5000297	0.71095	-3.323	0.14748	T	0.6096051003111664	0.67711	0.953	0.87214	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.962489	0.82058	27.7	0.99938938791288123	0.99734	0.98178	0.80279	D	AEFDBI	0.919254	0.88950	D	0.758595953127545	0.83464	8.024213	0.713632478803501	0.83413	8.015257	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	7.905000	0.86479	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.751000	0.35822	0.0:1.0:0.0:0.0	20.112	0.97914	615	0.66512	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	66.98	38	chr7	94618810	.	C	T	66.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.591e+00;DP=875;ExcessHet=0.0000;FS=42.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.253;SOR=5.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	100819562	100819562	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon6:c.G1292A:p.R431Q,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.984	D	0.567	P	0.000	D	0.998	D	-0.385	N	0.69	T	-1.025	T	0.072	T	0.134	1.399	10.61	5.46	2.563	2.119	16.780	0.132	0.00454258667063	.	.	9.06e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs74779801	4.273e-06	4.788e-06	2.799e-06	5.8e-06	4.64e-06	1.54e-06	1.01e-06	1.36e-06	9.9e-07	0	0	0	0	1.956e-05	0	4.64e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.984	0.60733	D	0.413	0.44885	B	0.000142	0.49130	D	0.000000	0.998212	0.44638	D	-0.445	0.02820	N	0.69	0.51714	T	1.93	0.00441	N	0.186	0.20262	-1.0250	0.22083	T	0.072	0.29291	T	10	0.06991157	0.10098	T	0.004543	0.11189	T	0.132	0.35948	0.34	0.33141	0.521978482128	0.51842	0.3612875509600573	0.36042	0.569716738074	0.53141	0.407445728779	0.26103	T	0.066958	0.33077	T	-0.205668	0.19993	T	-0.533204	0.18968	T	0.619259655475616	0.37175	D	0.844815	0.52285	T	0.12745142	0.29823	0.095643505	0.22692	0.12745142	0.29823	0.095643505	0.22691	-3.697	0.19274	T	0.12343182987437135	0.11961	0.103	0.19316	B	.;.	.;.	2.786649	0.36622	20.3	0.9743123735578566	0.33926	0.81969	0.41271	D	AEFDBI	0.249216	0.36949	N	-0.12749144407549	0.36197	2.089124	0.0181776272658777	0.40559	2.422504	0.999999998352416	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.46	5.46	0.80021	2.620000	0.46075	4.817000	0.45088	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.718000	0.34707	0.0:1.0:0.0:0.0	16.780	0.85423	691	0.58815	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	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	0.02381	2393.98	33	chr7	100819562	.	C	T	2393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=909;ExcessHet=0.0000;FS=2.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.400e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1379	20	0	1	0
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	1	1516	5	0	0	5	0.00164636	0.5408	0.332	19881	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided|SLC26A4-related_disorder|Rare_genetic_deafness	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900|.|MedGen:C5680250,Orphanet:96210	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.72	T	0.997	D	0.977	D	0.000	D	1.000	A	0.825	L	-2.65	D	0.228	D	0.708	D	0.928	3.084	16.30	5.62	2.140	6.446	15.825	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2751.98	34	chr7	107689054	.	T	C	2751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=926;ExcessHet=0.0000;FS=3.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.544;SOR=0.944	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1350	20	0	1	0
chr7	107701183	107701183	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon16:c.T1790C:p.L597S,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	6	1425	85	6	0	97	0.0329148	.	.	52694	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_specified|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	1.0	D	0.995	D	0.000	D	0.997	D	2.56	M	-3.23	D	0.778	D	0.855	D	0.949	3.900	19.83	5.72	2.189	6.396	16.000	0.848	.	0.0063	0.00858626	0.0083	0.0013	0.0025	0	0.0011	0.0075	0.0044	0.0272	0.008137	1258	154602	rs55638457	0.0086	0.0087	0.0078	0.0094	0.0294	0.0085	0.0084	0.0285	0.0281	0.0013	0.0026	0.0204	0	0.0008	0.0166	0.0078	0.0083	0.0294	0.0062	0.0062	0.0061	0.0064	0.0282	0.0059	0.0058	0.0244	0.0229	0.0011	0	0.0069	0.0202	0.0004	0.0010	0.0170	0.0081	0.0099	0.0282	0.002	0.72154	D	0.072	0.43344	T	0.999	0.77913	D	0.987	0.77487	D	0.000026	0.55875	D	0.000000	0.996546	0.43267	D	2.005	0.54552	M	-3.23	0.93414	D	-4.43	0.77554	D	0.751	0.75009	0.778	0.94144	D	0.855	0.95166	D	10	0.008705229	0.00197	T	.	.	.	0.848	0.95286	.	.	0.993411842951	0.99333	0.7146361969492586	0.71406	0.0744065334722	0.08345	0.599259257317	0.52800	T	0.52255	0.83330	D	0.109073	0.65256	D	0.404849	0.92270	D	0.0128156377420309	0.00218	T	0.80172	0.44782	T	0.655183	0.75640	0.7329923	0.84221	0.6963972	0.77861	0.72609085	0.83821	-11.425	0.81937	D	0.3751398837757109	0.47022	0.915	0.83794	P	.;.	.;.	5.023850	0.83509	28.1	0.99875485699813071	0.95244	0.96669	0.70311	D	AEBI	0.844122	0.76110	D	0.665602469293769	0.77382	6.663954	0.656390780406368	0.79086	7.008897	0.999997293239954	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.72	5.72	0.89380	6.175000	0.71875	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.000	0.80080	772	0.48957	STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	rs55638457	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	776.98	34	chr7	107701183	.	T	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.076e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1180	20	0	1	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	1	1481	40	0	0	40	0.0133245	.	.	47455	not_provided|CFTR-related_disorder|not_specified|Cystic_fibrosis	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.29	B	0.375	B	0.000	D	1.000	D	0.835	L	-2.45	D	0.195	D	0.680	D	0.679	4.594	25.0	5.73	2.313	7.655	16.314	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	933.98	33	chr7	117531068	.	T	C	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=797;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=1.92;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr7	117540273	117540273	T	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon8:c.T1043A:p.M348K,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	0	1520	2	0	0	2	0.000657462	.	.	67841	Cystic_fibrosis|not_specified|CFTR-related_disorder|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.000	D	1.000	D	1.7	L	-2.59	D	0.694	D	0.772	D	0.985	4.705	26.1	5.39	2.156	7.584	15.694	0.927	0.736780914862	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs142920240	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	1.872e-05	0.0007	0.0001	0.0002	0	7.885e-05	8.537e-05	0.0001	5.38e-05	0.0001	4.497e-05	3.512e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-2.59	0.89822	D	-2.97	0.61865	D	0.94	0.94668	0.694	0.93099	D	0.772	0.92252	D	10	0.8749697	0.86782	D	0.736781	0.97887	D	0.927	0.98229	.	.	0.993634915165	0.99356	0.9814907381668324	0.98141	0.00369184875743	0.00316	0.761901021004	0.76212	T	0.818952	0.95552	D	0.243013	0.77945	D	0.396008	0.91980	D	0.254882908323187	0.23090	T	0.969703	0.89491	D	0.9475731	0.96018	0.84129494	0.90924	0.9371919	0.94962	0.8720538	0.93009	-14.652	0.94983	D	0.7992747305683549	0.87634	0.935	0.86846	P	.;.;.;.;.	.;.;.;.;.	4.493132	0.70201	25.5	0.98736765920267222	0.45437	0.98238	0.80821	D	AEFI	0.977938	0.99746	D	0.732290199300938	0.81750	7.595643	0.725768964040585	0.84334	8.263437	0.999973483006093	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.538000	0.80960	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.694	0.77239	790	0.46189	ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2202.98	36	chr7	117540273	.	T	A	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=876;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.080e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	0	1	0
chr7	128842905	128842905	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon16:c.C2501T:p.T834M	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	YES	0	1496	24	2	0	28	0.00927152	.	.	134529	Cardiomyopathy|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.367	B	0.177	B	0.000	D	1.000	D	1.375	L	-3.09	D	0.082	D	0.493	T	0.32	3.159	16.57	5.7	2.688	3.219	19.847	0.447	.	0.0012	0.0239617	0.0090	0.0005	0.0012	0.0179	0	0.0012	0.0056	0.0498	0.0084281	1303	154602	rs75133741	0.0050	0.0050	0.0038	0.0063	0.0493	0.0049	0.0049	0.0480	0.0475	0.0005	0.0007	0	0.0189	3.757e-05	0.0016	0.0017	0.0062	0.0493	0.0034	0.0034	0.0022	0.0046	0.0561	0.0031	0.0030	0.0506	0.0485	0.0003	0	0.0015	0	0.0203	0	0	0.0015	0.0014	0.0561	0.135	0.27663	T	0.125	0.35455	T	0.249	0.34030	B	0.044	0.35687	B	0.000001	0.84330	D	0.053555	0.999646	0.48019	D	2.21	0.62235	M	-3.09	0.93170	D	-3.02	0.64593	D	0.438	0.49420	0.082	0.83849	D	0.493	0.80757	T	10	0.010443568	0.00232	T	.	.	.	0.447	0.74866	.	.	0.474368926326	0.47065	0.3821749051926247	0.38132	0.432603500595	0.43432	0.613334536552	0.54787	T	0.745869	0.92998	D	-0.265909	0.12217	T	-0.11823	0.61948	T	0.0407364212241147	0.03823	T	0.918008	0.70480	D	0.08972675	0.20975	0.12818894	0.30844	0.09558347	0.22497	0.13841659	0.33057	-3.932	0.22783	T	0.2128994219855428	0.28577	0.065	0.02609	B	.;.	.;.	3.668437	0.52151	23.2	0.99082601232310663	0.52002	0.90739	0.52170	D	AEFDBHCI	0.358683	0.44928	N	0.130846518323266	0.47906	3.009856	0.276113382339496	0.54148	3.580719	0.999999999999857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.691665	0.62940	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.671000	0.46507	5.995000	0.52393	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.464000	0.28207	0.0:1.0:0.0:0.0	19.847	0.96710	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	2111.98	35	chr7	128842905	.	C	T	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.270e-01;DP=911;ExcessHet=0.0000;FS=13.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.403;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1249	20	0	1	0
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	309838	Distal_Renal_Tubular_Acidosis,_Recessive|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|not_specified	MedGen:CN239177|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.002	B	0.102	N	1.000	N	-1.37	N	-2.04	D	-0.845	T	0.216	T	0.054	1.732	11.75	5.25	1.965	5.213	7.847	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	723.98	36	chr7	138739614	.	T	C	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=767;ExcessHet=0.0000;FS=2.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.233e+00;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	20	0	1	0
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	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.824	N	1.000	N	0.195	N	3.19	T	-0.923	T	0.008	T	0.033	-0.600	1.318	-4.88	-0.370	-0.220	4.098	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	2343.98	44	chr8	6445112	.	G	A	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=1205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	27776612	27776612	A	G	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon3:c.A304G:p.I102V,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	273926	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.019	B	0.022	N	1.000	D	1.78	L	0.7	T	-0.996	T	0.179	T	0.095	1.259	10.11	-0.832	-0.065	0.368	4.159	0.048	0.0113185891406	.	.	8.268e-05	0	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs201354290	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	2.236e-05	0	0	0	0.0009	0.0003	0.0002	0.0002	7.225e-05	7.223e-05	7.706e-05	6.722e-05	0.0001	3.97e-05	3.126e-05	4.764e-05	3.338e-05	2.412e-05	0	6.544e-05	0	0	0	0	0.0001	0.0010	0	0.233	0.25979	T	0.0	0.92824	D	0.002	0.09854	B	0.007	0.12992	B	0.022001	0.26719	N	0.454089	0.654033	0.81001	D	1.355	0.33814	L	0.7	0.67011	T	-0.53	0.16393	N	0.063	0.03502	-0.9958	0.31082	T	0.179	0.52536	T	10	0.118229866	0.22347	T	0.011319	0.28825	T	0.048	0.13305	.	.	0.650937406085	0.64803	0.1726468118278754	0.17184	0.101361736065	0.11470	0.396853804588	0.24631	T	0.022821	0.17526	T	-0.360347	0.04110	T	-0.48609	0.23801	T	0.0293195511310961	0.01886	T	0.619338	0.25461	T	0.030766703	0.02796	0.028842924	0.01160	0.030766703	0.02796	0.028842924	0.01160	-3.652	0.18612	T	.	.	0.145	0.32030	B	.;.;.	.;.;.	1.087916	0.14711	11.26	0.87929945435024348	0.17588	0.32267	0.24543	N	AEFBI	0.102951	0.20640	N	-0.422778479958731	0.24672	1.333882	-0.337167158488305	0.26909	1.489563	0.999612491561007	0.40981	0.651	0.46895	0	0.627608	0.54475	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.63	-0.832	0.10240	0.207000	0.17194	0.977000	0.23099	0.691000	0.84096	0.989000	0.36753	0.994000	0.32194	0.976000	0.56436	0.515:0.0:0.3329:0.1521	4.159	0.09738	895	0.25842	.;.;.	.	.	.	.	.	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	0	0	0.02381	5901.98	36	chr8	27776612	.	A	G	5901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=1130;ExcessHet=0.0000;FS=2.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-5.040e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr8	28716532	28716532	G	A	exonic	EXTL3	.	nonsynonymous SNV	EXTL3:NM_001440:exon3:c.G473A:p.R158Q,	.	YES	416	1099	7	0	0	7	0.0031746	.	.	1118523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.871	P	0.097	B	0.000	D	1.000	D	1.445	L	-3.7	D	0.513	D	0.731	D	0.699	3.270	16.97	5.02	2.348	9.624	18.403	0.585	0.341576427091	.	0.000998403	0.0006	0	0.0002	0	0	7.502e-05	0.0011	0.0036	0.0004722	73	154602	rs573052861	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0	0	0	0.0007	3.417e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	2.406e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0039	0.121	0.27783	T	0.603	0.07868	T	0.871	0.47859	P	0.097	0.30390	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	-3.7	0.95352	D	-0.79	0.21860	N	0.801	0.79696	0.513	0.90723	D	0.731	0.90780	D	9	0.03950128	0.02445	T	0.341576	0.92029	D	0.585	0.83360	.	.	0.951535142876	0.95102	0.6907624148698749	0.69016	0.415449105728	0.42203	0.706462025642	0.68080	T	0.213033	0.57424	T	-0.0347328	0.46727	T	0.174596	0.81680	D	0.0615618673074429	0.07412	T	0.979802	0.93081	D	0.17576112	0.38452	0.14381711	0.34165	0.17576112	0.38452	0.14381711	0.34164	-2.861	0.08759	T	0.13000684969041673	0.13634	0.161	0.35622	B	.	.	3.173661	0.43051	21.7	0.99832872717281562	0.91456	0.99626	0.98117	D	AEFBI	0.922297	0.89707	D	0.360604662325935	0.59301	4.10846	0.44156399724953	0.64176	4.666968	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	9.757000	0.98114	11.850000	0.98050	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:1.0:0.0	18.403	0.90467	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3011.98	36	chr8	28716532	.	G	A	3011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=944;ExcessHet=0.0000;FS=1.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.441;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	20	0	1	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R,	Werner syndrome, Autosomal recessive	YES	4	1513	5	0	0	5	0.00164962	0.9915	0.7	139162	not_provided|Werner_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.704	P	0.277	B	0.023	N	0.992	N	1.995	M	0.59	T	-0.904	T	0.152	T	0.178	3.367	17.35	3.68	0.854	5.763	9.727	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1268.98	34	chr8	31058542	.	A	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=0.750;SOR=0.629	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1242	20	0	1	0
chr8	42463062	42463062	C	A	exonic	SLC20A2	.	nonsynonymous SNV	SLC20A2:NM_001257180:exon4:c.G459T:p.L153F	Basal ganglia calcification, idiopathic, 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	1.855	L	-2.96	D	0.514	D	0.796	D	0.889	3.664	18.62	2.92	0.321	0.374	6.802	0.757	0.368044975937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334799490	2.07e-06	4.104e-06	2.746e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.808e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.41	0.69639	M	-2.96	0.91956	D	-3.54	0.68651	D	0.811	0.85343	0.514	0.90737	D	0.796	0.93082	D	10	0.8844991	0.87772	D	0.368045	0.92677	D	0.757	0.91710	0.688	0.82558	0.709946821838	0.70741	0.8641147581064089	0.86375	1.64641629461	0.89472	0.733646273613	0.72039	T	0.787172	0.94435	D	0.381854	0.88827	D	0.31073	0.88686	D	0.959094285964966	0.65443	D	0.931507	0.74506	D	0.6127867	0.73377	0.56094086	0.74596	0.6127867	0.73378	0.56094086	0.74597	-7.108	0.54818	T	0.5709004921194298	0.63809	0.547	0.66889	A	.;.;.	.;.;.	3.837961	0.55523	23.6	0.99891145262850212	0.96513	0.81952	0.41257	D	AEFBI	0.148567	0.27249	N	0.374312138011704	0.60032	4.188064	0.320000322000929	0.56717	3.835392	0.880181847434527	0.25602	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.78	2.92	0.32998	0.400000	0.20657	1.508000	0.27004	0.594000	0.32500	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.1429:0.702:0.0:0.1551	6.802	0.22938	740	0.53092	.;.;.	.	.	.	.	.	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	453.98	55	chr8	42463062	.	C	A	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-1.118e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1218	20	0	1	0
chr8	60742144	60742144	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.G712A:p.V238M	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	YES	0	1521	1	0	0	1	0.000328623	.	.	192487	CHARGE_syndrome|not_provided|not_specified	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.031	B	0.009	B	0.027	N	0.582	N	0.69	N	1.8	T	-0.544	T	0.327	T	0.147	1.273	10.16	3.91	1.027	3.342	10.974	0.030	0.0482758932149	0.0013	0.000798722	0.0004	0.0044	0.0002	0.0001	0	1.501e-05	0	0	0.0003428	53	154602	rs200898742	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0004	0	0.0001	0	0.0002	6.296e-06	0.0003	0	0.0014	0.0014	0.0014	0.0015	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.317	0.19710	T	0.225	0.25514	T	0.031	0.20130	B	0.009	0.14300	B	0.027050	0.25820	N	0.189493	0.605923	0.31094	N	0.695	0.17993	N	-1.76	0.83578	D	-0.16	0.09965	N	0.174	0.24010	-0.5444	0.66997	T	0.327	0.69487	T	10	0.0068236887	0.00155	T	0.048276	0.63300	D	0.030	0.07022	.	.	0.6380952546	0.63512	0.20411073365929738	0.20328	0.10325729537	0.11677	0.548598051071	0.45660	T	0.092886	0.39097	T	-0.38168	0.03040	T	-0.318422	0.42749	T	0.00975706392356496	0.00128	T	0.808919	0.48242	T	0.04297422	0.06616	0.035848856	0.02916	0.04297422	0.06616	0.035848856	0.02915	-2.925	0.09518	T	.	.	0.084	0.12084	B	.;.;.	.;.;.	2.320502	0.29716	18.21	0.95761404197805178	0.27752	0.83383	0.42504	D	AEFDGBCI	0.308933	0.41537	N	-0.237534991891463	0.31604	1.773792	-0.0654258728966093	0.36829	2.148432	0.999998885283044	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.91	0.44383	3.424000	0.52524	5.701000	0.49379	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1155:0.0:0.8845:0.0	10.974	0.46668	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	2369.98	33	chr8	60742144	.	G	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=891;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.588e+00;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr8	67483807	67483807	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon8:c.G799A:p.G267R,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	265506	Familial_temporal_lobe_epilepsy_5|Febrile_seizures,_familial,_11|Global_developmental_delay|CPA6-related_disorder|not_provided|Confusion|Focal-onset_seizure|Palpitations|Irregular_menstruation|Abnormal_emotional_state|Periventricular_heterotopia|Seizure|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0013741,MedGen:C3280730,OMIM:614417|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000731,Human_Phenotype_Ontology:HP:0001289,MedGen:C0009676|Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495|Human_Phenotype_Ontology:HP:0001962,MedGen:C0030252|Human_Phenotype_Ontology:HP:0000858,MedGen:C0156404|Human_Phenotype_Ontology:HP:0100851,MedGen:C4020949|Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.22	H	1.97	T	0.432	D	0.533	D	0.988	5.016	29.6	5.18	2.567	7.071	17.836	0.725	0.252068408815	0.0032	0.00139776	0.0021	0.0038	0.0018	0	0.0002	0.0028	0.0066	0.0001	0.0021086	326	154602	rs61738009	0.0029	0.0029	0.0030	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0033	0.0025	0	0	0.0002	0.0033	0.0034	0.0028	0.0002	0.0025	0.0025	0.0028	0.0022	0.0032	0.0023	0.0022	0.0028	0.0027	0.0032	0	0.0014	0	0.0002	9.414e-05	0	0.0031	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.053233	1	0.81001	D	4.055	0.97073	H	0.59	0.53943	T	-7.56	0.95216	D	0.993	0.99863	0.432	0.89566	D	0.533	0.82704	D	10	0.13679942	0.26025	T	0.252068	0.89157	D	0.725	0.90324	0.878	0.96734	0.861870208621	0.86053	0.960238203642367	0.96009	0.25006603729	0.27585	0.679282546043	0.64166	T	0.205276	0.56428	T	0.023973	0.54916	T	0.260186	0.86099	D	0.162356426692107	0.18043	T	0.931907	0.74605	D	0.94777673	0.96039	0.95916945	0.98926	0.94777673	0.96040	0.95916945	0.98927	-13.193	0.90141	D	0.8711783554657455	0.93183	0.987	0.92633	P	.	.	5.286792	0.88766	29.7	0.99936485934862673	0.99621	0.96562	0.69761	D	AEFBI	0.874928	0.79807	D	1.0291666116735	0.96572	14.86257	0.91802455739627	0.96310	14.54442	0.999999600216836	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	7.472000	0.79998	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.836	0.88608	69	0.97055	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	35	chr8	67483807	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=831;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.164;SOR=0.798	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1431	20	0	1	0
chr8	67506878	67506878	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon6:c.G545A:p.R182Q,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	1358728	not_provided|Febrile_seizures,_familial,_11	MedGen:C3661900|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.994	D	0.653	P	0.012	N	0.987	D	0.585	N	3.99	T	-1.116	T	0.065	T	0.333	2.392	13.96	4.06	0.835	1.764	11.046	0.041	0.0115165739181	.	.	1.653e-05	0	0	0	0	1.502e-05	0	6.069e-05	1.29e-05	2	154602	rs765453517	1.301e-05	1.368e-05	1.09e-05	1.514e-05	3.48e-05	8.32e-06	6.71e-06	9.24e-06	5.03e-06	2.992e-05	0	3.831e-05	0	0	0	1.17e-05	1.657e-05	3.48e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.18	0.21968	T	0.529	0.10138	T	0.827	0.45966	P	0.243	0.38752	B	0.011585	0.29474	N	0.349450	0.987217	0.40554	D	0.605	0.15622	N	1.57	0.29342	T	0.14	0.05405	N	0.442	0.48042	-1.1162	0.02587	T	0.065	0.26983	T	10	0.15828928	0.29770	T	0.011517	0.29227	T	0.041	0.10877	0.394	0.41935	0.319402600006	0.31557	0.7036808845895597	0.70309	0.128929971286	0.14537	0.363084614277	0.19835	T	0.003963	0.03373	T	-0.317158	0.07132	T	-0.490698	0.23318	T	0.748839914798737	0.43221	D	0.89931	0.64723	D	0.07982647	0.18259	0.07528672	0.16560	0.07982647	0.18259	0.07528672	0.16560	-5.595	0.42746	T	0.2348830541090687	0.31801	0.101	0.17445	B	.	.	2.470351	0.31840	18.86	0.99667851625899584	0.78394	0.85518	0.44659	D	AEFDGBI	0.194976	0.32203	N	0.0768730149753547	0.45387	2.795984	0.138139695088751	0.46517	2.896401	0.999999646039494	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.2	4.06	0.46572	1.652000	0.36929	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8848:0.0:0.1152	11.046	0.47074	67	0.97183	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2249.98	34	chr8	67506878	.	C	T	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=882;ExcessHet=0.0000;FS=4.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.330;SOR=0.459	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	20	0	1	0
chr8	81444914	81444914	A	G	exonic	PMP2	.	nonsynonymous SNV	PMP2:NM_002677:exon2:c.T149C:p.I50T,	.	YES	433	1060	28	1	0	30	0.0139535	.	.	723190	not_provided|PMP2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.903	P	0.000	D	1.000	D	2.94	M	0.9	T	-0.403	T	0.236	T	0.179	4.738	26.4	5.68	2.164	5.049	15.933	0.332	.	0.0083	0.00439297	0.0068	0.0023	0.0076	0	0.0032	0.0099	0.0033	0.0016	0.0017076	264	154602	rs113226355	0.0084	0.0084	0.0085	0.0082	0.0195	0.0082	0.0082	0.0165	0.0154	0.0019	0.0096	0.0036	0	0.0046	0.0195	0.0096	0.0076	0.0016	0.0066	0.0066	0.0070	0.0063	0.0122	0.0063	0.0062	0.0108	0.0102	0.0018	0.0121	0.0122	0.0043	0	0.0043	0.0204	0.0093	0.0118	0.0027	0.001	0.78490	D	0.025	0.56192	D	0.936	0.52359	P	0.903	0.64103	P	0.000003	0.62929	D	0.130177	1	0.81001	D	3.275	0.90144	M	0.9	0.45248	T	-3.65	0.69950	D	0.528	0.55713	-0.4030	0.71932	T	0.236	0.60270	T	10	0.009934604	0.00223	T	.	.	.	0.332	0.65424	.	.	0.619705228755	0.61662	0.7832517119530348	0.78276	0.326856496752	0.34824	0.620928049088	0.55861	T	0.174099	0.52320	T	-0.467784	0.00878	T	-0.43304	0.29589	T	0.040061720592216	0.03702	T	0.753225	0.37546	T	0.76351094	0.81661	0.7340191	0.84281	0.79412234	0.83534	0.7340191	0.84282	-5.736	0.44013	T	0.5385803871172179	0.60852	0.464	0.62912	A	.	.	4.132459	0.61850	24.4	0.99849032492043188	0.92838	0.97802	0.77240	D	AEFI	0.645847	0.62159	D	0.718185779252264	0.80823	7.38083	0.670890889243755	0.80176	7.240721	0.999967983250319	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	4.212000	0.58311	9.089000	0.78739	0.691000	0.84096	0.853000	0.30494	0.999000	0.35428	0.989000	0.64315	1.0:0.0:0.0:0.0	15.933	0.79471	871	0.31377	Lipocalin/cytosolic fatty-acid binding domain	CHMP4C|CHMP4C|CHMP4C	Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	502.98	33	chr8	81444914	.	A	G	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=740;ExcessHet=0.0000;FS=2.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.083;SOR=1.230	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1453	20	0	1	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	93797346	93797346	G	A	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon20:c.G1976A:p.R659Q	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	900155	Meckel_syndrome,_type_3|Joubert_syndrome_6|Nephronophthisis_11|TMEM67-related_disorder|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis	MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564|MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475|MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081|MedGen:CN239423|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.966	D	0.437	B	0.000	D	0.991	D	1.01	L	-4.16	D	0.605	D	0.776	D	0.254	2.821	15.39	5.62	2.651	5.076	9.850	0.392	0.109924779036	.	.	7.414e-05	0	0	0	0.0002	0	0	0.0005	6.47e-05	10	154602	rs769827614	6.567e-05	6.567e-05	3.267e-05	9.901e-05	0.0008	5.495e-05	5.107e-05	0.0007	0.0006	0	6.708e-05	0	0	7.488e-05	0	1.079e-05	8.279e-05	0.0008	3.944e-05	3.941e-05	1.285e-05	6.729e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0.0008	0.364	0.12961	T	0.281	0.21612	T	0.928	0.51611	P	0.355	0.42984	B	0.000002	0.62929	D	0.054754	0.991202	0.41332	D	2.2	0.62015	M	-4.16	0.96826	D	-0.98	0.25986	N	0.252	0.28498	0.605	0.91967	D	0.776	0.92398	D	10	0.16559893	0.30948	T	0.109925	0.78710	D	0.392	0.70764	0.539	0.65018	0.996875303014	0.99684	0.33750916083640087	0.33663	0.450094232755	0.44782	0.470991700888	0.34817	T	0.48379	0.81137	T	-0.124816	0.32338	T	-0.0606881	0.66285	T	0.319966942071915	0.25821	T	0.940956	0.77922	D	0.10435788	0.24670	0.07053765	0.14999	0.10435788	0.24670	0.07053765	0.14998	-1.045	0.01050	T	0.3213642394647577	0.41949	0.091	0.13876	B	.;.	.;.	3.752322	0.53796	23.4	0.99642185181838117	0.76756	0.85055	0.44157	D	AEFBI	0.290866	0.40214	N	0.375371233391161	0.60090	4.194292	0.483913188794834	0.66925	5.015774	0.384559636209914	0.19991	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	5.107000	0.64439	6.686000	0.56326	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1568:0.0:0.8432:0.0	9.850	0.40217	579	0.69780	.;.	.	.	.	.	.	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	5351.98	35	chr8	93797346	.	G	A	5351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1202;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.809;SOR=0.791	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	99778810	99778810	G	C	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon42:c.G7633C:p.E2545Q	Cohen syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.922	D	0.000	D	1.000	D	1.845	L	-0.47	T	-0.100	T	0.447	T	0.38	4.549	24.6	4.57	1.285	7.252	13.736	0.247	0.0447452973275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46910	D	0.022	0.57587	D	0.996	0.68779	D	0.922	0.65739	D	0.000014	0.62929	D	0.110781	0.999566	0.81001	D	2.33	0.66821	M	-0.47	0.70133	T	-1.21	0.30762	N	0.52	0.55019	-0.0999	0.80100	T	0.447	0.78276	T	10	0.43066174	0.57468	T	0.044745	0.61641	D	0.247	0.55478	0.343	0.33626	0.715729387031	0.71323	0.30561118976972984	0.30474	0.264670799846	0.29017	0.410044014454	0.26462	T	0.11535	0.43387	T	0.0349696	0.56383	T	-0.187545	0.55820	T	0.931605041027069	0.59708	D	0.856914	0.54589	D	0.20281625	0.42338	0.121299446	0.29268	0.20281625	0.42338	0.121299446	0.29267	-3.682	0.19052	T	0.8036494507847762	0.87992	0.199	0.43227	B	.;.	.;.	4.325895	0.66244	24.9	0.99784379108529142	0.87043	0.98899	0.88348	D	AEFBI	0.766816	0.70288	D	0.574594056980471	0.71590	5.674334	0.577485097829878	0.73330	5.952686	0.999996966036441	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.44	4.57	0.55860	7.365000	0.78793	9.947000	0.82700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0738:0.0:0.9262:0.0	13.736	0.62300	464	0.78488	.;.	.	.	.	.	.	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	1811.98	34	chr8	99778810	.	G	C	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=861;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-4.640e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr8	104014565	104014565	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348501:exon15:c.G2480A:p.R827Q	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	.	.	1.000	D	1.32	L	2.27	T	-0.519	T	0.297	T	0.787	4.759	26.7	5.63	2.652	9.175	19.685	0.376	0.0455701775502	.	.	8.354e-06	0	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs752574736	1.848e-05	1.915e-05	8.172e-06	2.889e-05	2.989e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.989e-05	0	0	0	0	0	2.159e-05	3.315e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.022	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999986	0.58761	D	.	.	.	0.38	0.57575	T	-3.21	0.70793	D	0.774	0.78641	-0.5192	0.67944	T	0.297	0.66839	T	9	0.65121573	0.69614	D	0.04557	0.62042	D	0.376	0.69443	.	.	0.842765757162	0.84126	0.7287656776686123	0.72820	.	.	0.6451395154	0.59295	T	0.279988	0.66831	T	0.160048	0.70206	D	0.0557672	0.73963	D	0.937684428887407	0.60767	D	0.994226	0.98194	D	.	.	.	.	.	.	.	.	-12.166	0.85650	D	.	.	0.332	0.56825	B	.;.;.;.;.;.	.;.;.;.;.;.	5.488310	0.91455	32	0.99953993998528479	0.99963	0.98717	0.85956	D	AEFI	0.872259	0.79403	D	0.799852653974975	0.86095	8.777116	0.821190671424518	0.91225	10.78087	0.999999858273597	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	9.102000	0.93579	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.685	0.95971	833	0.38804	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.02381	753.98	33	chr8	104014565	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=758;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.063;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chr8	142913390	142913390	A	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon6:c.T1016A:p.I339N,	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	YES	0	1408	68	3	43	117	0.0256055	.	.	313457	not_provided|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency	MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.003	N	0.000	P	0.125	N	-0.28	T	-0.986	T	0.112	T	0.154	0.682	7.646	3.74	0.794	1.015	4.697	0.055	.	.	0.00539137	0.0035	0	0.0012	0.0006	0.0002	0.0006	0.0022	0.0219	0.0029754	460	154602	rs4544	0.0016	0.0016	0.0010	0.0022	0.0206	0.0016	0.0015	0.0198	0.0194	0.0002	0.0008	0.0007	0.0004	1.879e-05	0.0078	0.0003	0.0018	0.0206	0.0010	0.0010	0.0006	0.0015	0.0199	0.0009	0.0008	0.0167	0.0155	7.236e-05	0	0.0007	0.0006	0.0002	0	0.0102	0.0005	0.0009	0.0199	0.074	0.34621	T	0.386	0.15698	T	0.0	0.02946	B	0.0	0.01387	B	0.003267	0.35183	N	0.129102	0.999554	0.20991	P	-0.345	0.03330	N	-0.28	0.67543	T	-0.08	0.08187	N	0.17	0.18103	-0.9861	0.33566	T	0.112	0.40168	T	9	0.020480663	0.00473	T	.	.	.	0.055	0.15663	.	.	0.392239652056	0.38839	0.7807455489331263	0.78025	0.399629525526	0.40983	0.660252928734	0.61446	T	0.087593	0.37975	T	-0.512246	0.00488	T	-0.492326	0.23148	T	0.0066171016284321	0.00074	T	0.328667	0.06851	T	0.20084515	0.42074	0.13601667	0.32550	0.39012992	0.60042	0.16626196	0.38418	-3.864	0.21764	T	.	.	0.081	0.08033	B	.	.	3.043909	0.40817	21.2	0.93745159411013268	0.23683	0.03483	0.08646	N	AEFDGBI	0.034672	0.04335	N	-0.96610948516903	0.09335	0.4413613	-0.876511995914212	0.12651	0.6520281	0.00385800859355537	0.10307	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.74	3.74	0.42108	0.599000	0.23788	8.999000	0.78526	-0.103000	0.15852	0.000000	0.06391	1.000000	0.68203	0.192000	0.21661	0.1139:0.0:0.6733:0.2128	4.697	0.12192	982	0.03397	.	.	.	.	.	.	Likely benign	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	0	1	0	0.04762	5397.11	41	chr8	142913390	.	A	T	5397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=1441;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=-1.860e-01;QD=12.97;ReadPosRankSum=-3.700e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	19	0	2	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
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L	Acrodermatitis enteropathica, Autosomal recessive	YES	0	1468	50	4	0	58	0.0193721	.	.	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.006	B	0.001	B	0.001	N	1.000	N	0.55	N	0.62	T	-1.031	T	0.058	T	0.092	2.014	12.69	-1.59	-0.305	-0.416	3.545	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1203.98	47	chr8	144416027	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1026;ExcessHet=0.0000;FS=6.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-6.930e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr8	144512247	144512247	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon18:c.G3133A:p.A1045T,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	138887	Rothmund-Thomson_syndrome_type_2|not_provided|not_specified|Baller-Gerold_syndrome|RECQL4-related_disorder	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00399361	0.0012	0.0112	0.0007	0.0020	0	0.0002	0	6.074e-05	0.001216	188	154602	rs35348691	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0004	0.0097	0.0094	0.0106	0.0014	0.0010	0.0010	0	0.0026	9.894e-05	0.0015	0.0001	0.0036	0.0036	0.0038	0.0035	0.0117	0.0034	0.0033	0.0109	0.0105	0.0117	0	0.0029	0.0012	0.0008	0	0	5.881e-05	0.0043	0.0002	.	.	.	0.52	0.38160	T	0.89	0.48942	P	0.261	0.39516	B	.	.	.	.	.	.	.	2.635	0.77114	M	.	.	.	.	.	.	0.097	0.12484	.	.	.	.	.	.	.	0.0045722723	0.00095	T	.	.	.	.	.	.	.	0.689604367157	0.68694	0.11929209556668262	0.11856	.	.	0.337042570114	0.15994	T	0.011554	0.25615	T	-0.371329	0.03527	T	-0.298203	0.44915	T	.	.	.	0.849515	0.53247	T	0.025144268	0.01419	0.0876284	0.20381	0.03714392	0.04707	0.08291603	0.18961	-4.918	0.35937	T	0.29070564616817923	0.38721	0.083	0.11510	B	.;.;.	.;.;.	1.006230	0.13851	10.40	0.72434867363369804	0.09972	0.46003	0.27663	N	AEFGBCI	0.118593	0.23183	N	.	.	.	.	.	.	0.99999935194341	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.299256	0.05649	0	0.322829	0.05601	0	.	.	5.37	2.4	0.28568	0.075000	0.14547	0.862000	0.22237	-0.223000	0.07921	0.000000	0.06391	0.276000	0.24078	0.002000	0.04165	0.1635:0.52:0.3165:0.0	8.599	0.32896	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3301.98	116	chr8	144512247	.	C	T	3301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=2390;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-8.440e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1451	20	0	1	0
chr8	144512966	144512966	G	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.C2636A:p.P879H,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1468	53	1	0	55	0.0183885	.	.	100790	not_provided|not_specified|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.00539137	0.0111	0.0069	0.0209	0	0.0009	0.0170	0.0317	0.0028	0.0056662	876	154602	rs137975310	0.0101	0.0100	0.0102	0.0099	0.0284	0.0099	0.0099	0.0248	0.0234	0.0048	0.0115	0.0130	0	0.0012	0.0284	0.0112	0.0114	0.0031	0.0089	0.0089	0.0093	0.0085	0.0157	0.0085	0.0083	0.0141	0.0134	0.0051	0.0307	0.0157	0.0144	0	0.0009	0.0306	0.0113	0.0137	0.0023	.	.	.	0.129	0.34837	T	0.39	0.34593	B	0.159	0.34693	B	.	.	.	.	.	.	.	1.525	0.38595	L	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.004400462	0.00090	T	.	.	.	.	.	.	.	0.739007817583	0.73667	0.32707399421941546	0.32620	.	.	0.322193324566	0.13753	T	0.027492	0.33267	T	-0.418621	0.01746	T	-0.363709	0.37622	T	.	.	.	0.310069	0.06017	T	0.034189038	0.03789	0.0702438	0.14899	0.03304768	0.03447	0.070746265	0.15067	-4.697	0.33367	T	.	.	0.082	0.09143	B	.;.	.;.	-0.192825	0.03128	0.501	0.58722281192310632	0.06058	0.34935	0.25184	N	AEFGBCI	0.070053	0.13892	N	.	.	.	.	.	.	0.999998398723936	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.96	0.48	0.16014	0.280000	0.18550	0.457000	0.18579	-0.244000	0.07312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1883:0.1438:0.5207:0.1473	2.446	0.04231	900	0.24599	.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	1405.98	51	chr8	144512966	.	G	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.010e-01;DP=1211;ExcessHet=0.0000;FS=4.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.174;SOR=1.139	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1507	15	0	0	15	0.00495213	.	.	138904	Rothmund-Thomson_syndrome_type_2|not_specified|not_provided|Baller-Gerold_syndrome	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1245.98	124	chr8	144516364	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=2320;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.49;SOR=0.894	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr9	6553379	6553379	C	T	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon20:c.G2446A:p.A816T,	Glycine encephalopathy, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	524876	not_provided|Non-ketotic_hyperglycinemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.941	P	0.662	P	0.000	D	1.000	D	1.485	L	-5.03	D	0.999	D	0.929	D	0.376	4.427	23.5	4.84	2.406	5.765	18.316	0.668	0.137532005909	.	.	4.948e-05	0	0.0002	0	0	3e-05	0	0.0001	4.53e-05	7	154602	rs775834004	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.311e-05	3.001e-05	0.0001	0.0001	2.987e-05	0.0002	0	0	0	0.0002	3.597e-05	8.28e-05	3.478e-05	7.23e-05	7.224e-05	7.71e-05	6.727e-05	0.0004	3.972e-05	3.128e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	5.881e-05	0	0	0.199	0.20456	T	0.268	0.22494	T	0.941	0.52883	P	0.662	0.52860	P	0.000042	0.53742	D	0.160176	1	0.81001	D	1.645	0.42016	L	-5.03	0.98578	D	-2.34	0.51811	N	0.572	0.59478	0.999	0.97173	D	0.929	0.97659	D	10	0.4821699	0.60496	T	0.137532	0.82003	D	0.668	0.87674	0.477	0.55502	0.991686033947	0.99159	0.9015927798796813	0.90131	0.0464376371656	0.05045	0.615137934685	0.55042	T	0.469484	0.80300	T	-0.00285354	0.51260	T	0.0131705	0.71187	D	0.521986246109009	0.33438	D	0.959504	0.84855	D	0.44623506	0.63802	0.20249479	0.44281	0.44623506	0.63803	0.20249479	0.44280	-4.787	0.34440	T	0.2186470814143846	0.29448	0.122	0.37969	B	.;.;.;.	.;.;.;.	4.952621	0.81823	27.6	0.99855771806047944	0.93458	0.89274	0.49640	D	AEFGBCI	0.748147	0.68999	D	0.47454813086328	0.65610	4.844004	0.505585728362041	0.68365	5.210074	0.999999999680182	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.84	4.84	0.62125	5.840000	0.69113	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.316	0.90160	768	0.49510	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3938.98	33	chr9	6553379	.	C	T	3938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=1021;ExcessHet=0.0000;FS=0.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.800e-02;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1330	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	35079505	35079505	G	A	exonic	FANCG	.	nonsynonymous SNV	FANCG:NM_004629:exon1:c.C20T:p.S7F,	Fanconi anemia, complementation group G	YES	0	1488	33	1	0	35	0.011624	.	.	138097	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_G|not_specified	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.119	B	0.014	B	.	.	1.000	N	0	N	0.49	T	-0.923	T	0.179	T	0.163	2.019	12.71	2.0	0.325	-0.039	2.869	0.062	.	0.0012	0.00299521	0.0030	0.0002	0.0016	0	0	0.0032	0.0088	0.0073	0.0026972	417	154602	rs35984312	0.0019	0.0019	0.0017	0.0021	0.0088	0.0019	0.0018	0.0069	0.0065	0.0002	0.0017	0.0374	5.038e-05	7.501e-05	0.0088	0.0007	0.0048	0.0072	0.0017	0.0017	0.0015	0.0020	0.0100	0.0015	0.0015	0.0077	0.0069	7.214e-05	0	0.0010	0.0337	0	0	0.0306	0.0010	0.0019	0.0100	0.028	0.46129	D	0.135	0.34837	T	0.119	0.26641	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.49	0.78645	T	-0.84	0.24898	N	0.176	0.18920	-0.9232	0.45112	T	0.179	0.52520	T	9	0.0034295917	0.00060	T	.	.	.	0.062	0.17934	.	.	0.824232542968	0.82256	0.12471963206660289	0.12397	0.242843023396	0.26785	0.250848591328	0.03858	T	0.122376	0.44600	T	-0.431514	0.01452	T	-0.388472	0.34731	T	0.00525606276393134	0.00057	T	0.633437	0.24845	T	0.027672175	0.01993	0.03579487	0.02898	0.027433848	0.01935	0.035762858	0.02889	-5.688	0.43587	T	.	.	0.108	0.20547	B	.;.	.;.	1.459592	0.18817	13.94	0.81733467472474131	0.13832	0.02816	0.07548	N	AEFDGBCIJ	0.047551	0.08020	N	-0.927267469867783	0.10208	0.4867032	-0.921733248751573	0.11582	0.5909083	0.999999833832846	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.96	2.0	0.25495	-0.040000	0.12056	-0.007000	0.13116	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1023:0.1673:0.5346:0.1957	2.869	0.05267	94	0.96106	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	4984.08	38	chr9	35079505	.	G	A	4984.08	.	AC=2;AF=0.048;AN=42;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.81;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr9	37782130	37782130	T	C	exonic	EXOSC3	.	nonsynonymous SNV	EXOSC3:NM_016042:exon3:c.A482G:p.D161G,	Pontocerebellar hypoplasia, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1666690	Pontocerebellar_hypoplasia_type_1B	MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.000	D	1.000	D	3.11	M	-2.1	D	0.825	D	0.812	D	0.981	4.623	25.3	5.49	2.207	8.029	13.836	0.917	0.222076511813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	-2.1	0.86146	D	-5.7	0.87380	D	0.971	0.98167	0.825	0.94719	D	0.812	0.93676	D	10	0.91090506	0.90455	D	0.222077	0.87837	D	0.917	0.97852	0.694	0.83126	0.924815045053	0.92404	0.820757248253165	0.82032	0.683597874997	0.60172	0.748694419861	0.74254	T	0.378836	0.74172	T	0.443885	0.92201	D	0.399834	0.92104	D	0.997352804602829	0.91359	D	0.90021	0.65300	D	0.8783517	0.89531	0.784656	0.87314	0.8783517	0.89533	0.784656	0.87315	-11.763	0.83677	D	0.9629505689674748	0.98791	0.992	0.94308	P	.	.	5.467460	0.91233	32	0.99851946131486902	0.93102	0.99729	0.99021	D	AEFBI	0.927382	0.90994	D	0.903394704860887	0.91925	11.13809	0.847956997502576	0.92895	11.69804	0.999999999993161	0.74766	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	8.007000	0.88101	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.836	0.62903	568	0.70638	Rrp40, S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.03	41	chr9	37782130	.	T	C	160.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.332e+00;DP=1172;ExcessHet=0.0000;FS=82.129;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=2.26;SOR=8.485	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K	Choreoacanthocytosis, Autosomal recessive	YES	7	1499	15	1	0	17	0.00563847	.	.	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.985	D	0.000	D	1.000	D	1.445	L	1.53	T	-1.052	T	0.140	T	0.8	1.962	12.52	5.96	2.830	6.960	19.382	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding 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	0.04762	1505.11	34	chr9	77344204	.	G	A	1505.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.732;DP=793;ExcessHet=0.1072;FS=0.615;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	19	0	2	0
chr9	95469137	95469137	C	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon13:c.G1708C:p.V570L	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	566045	Gorlin_syndrome|See_cases|PTCH1-related_disorder|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.|.|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.601	P	0.334	B	0.000	D	1.000	D	2.425	M	-2.69	D	0.428	D	0.738	D	0.55	3.600	18.33	5.51	2.586	7.394	19.420	0.508	0.113178971592	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765258547	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0001	1.237e-05	1.051e-05	7.997e-05	6.236e-05	0	0	0	0	0	0	1.169e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.44358	D	0.119	0.36101	T	0.277	0.39346	B	0.158	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.71	0.90622	D	-1.55	0.41809	N	0.666	0.69387	0.428	0.89510	D	0.738	0.91029	D	10	0.3622725	0.52826	T	0.113179	0.79159	D	0.508	0.78848	0.431	0.48007	0.55347300972	0.55005	0.6577285813386012	0.65709	0.597372302995	0.54935	0.773280441761	0.77916	T	0.449426	0.79093	T	-0.013744	0.49739	T	-0.0208503	0.68972	D	0.25146296623296	0.22938	T	0.907909	0.71446	D	0.31692427	0.54379	0.27072743	0.52966	0.31692427	0.54379	0.27072743	0.52965	-11.078	0.80496	D	0.3990898662555778	0.49118	0.749	0.75012	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.122737	0.61634	24.4	0.9957970483519929	0.72921	0.99807	0.99597	D	AEFDBI	0.902253	0.84993	D	0.349131819777149	0.58694	4.043214	0.440012433563282	0.64079	4.654927	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.475000	0.80038	7.513000	0.59647	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.420	0.94711	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1646.98	34	chr9	95469137	.	C	G	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=835;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-4.740e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	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
chr9	105604227	105604227	C	T	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_001351498:exon5:c.C382T:p.R128W	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	258525	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|not_provided	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.001	B	0.705	N	0.996	D	0.41	N	-1.62	D	-0.341	T	0.513	D	0.482	2.165	13.20	4.17	1.119	2.679	8.439	0.379	0.0333464837821	.	.	4.945e-05	0	8.663e-05	0	0	5.995e-05	0	6.057e-05	3.88e-05	6	154602	rs767026996	2.123e-05	2.189e-05	9.54e-06	3.304e-05	0.0001	1.522e-05	1.326e-05	8.003e-05	6.241e-05	2.992e-05	2.236e-05	0	0	0	0	1.079e-05	8.301e-05	0.0001	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.079	0.42086	T	0.001	0.07471	B	0.0	0.01387	B	0.704993	0.10062	N	0.878706	0.995922	0.42925	D	0.695	0.17993	N	-2.46	0.91019	D	-1.89	0.62151	N	0.418	0.46742	-0.3411	0.73812	T	0.513	0.81714	D	10	0.2543642	0.42814	T	0.033346	0.54917	D	0.379	0.69696	0.445	0.50302	0.806406756828	0.80459	0.6168817100914664	0.61620	0.161743901965	0.18254	0.23783737421	0.02599	T	0.314321	0.68601	T	-0.0625101	0.42515	T	-0.14604	0.59592	T	0.0385499353610001	0.03430	T	0.836416	0.50788	T	0.054137107	0.10346	0.06881928	0.14421	0.054137107	0.10346	0.06881928	0.14420	-7.321	0.56345	T	0.20868239779575906	0.27919	0.067	0.09094	B	.;.;.;.	.;.;.;.	3.417184	0.47432	22.5	0.99555713625536346	0.71459	0.91617	0.53903	D	AEFBI	0.459827	0.51027	N	-0.258168337079731	0.30778	1.719401	-0.074357186268741	0.36454	2.121693	0.0232074840961546	0.13490	0.706548	0.73137	0	0.546412	0.12157	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.07	4.17	0.48303	2.347000	0.43692	1.063000	0.23738	0.599000	0.40250	0.978000	0.35038	0.500000	0.25199	0.960000	0.51673	0.1624:0.7548:0.0:0.0829	8.439	0.31967	956	0.09877	.;.;.;.	.	.	.	.	.	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	3061.98	38	chr9	105604227	.	C	T	3061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=877;ExcessHet=0.0000;FS=7.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=1.21;SOR=1.238	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr9	108901650	108901650	C	T	exonic	ELP1	.	nonsynonymous SNV	ELP1:NM_001330749:exon15:c.G839A:p.R280H	.	YES	0	1520	2	0	0	2	0.000657462	.	.	191902	not_specified|Familial_dysautonomia|not_provided	MedGen:CN169374|MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.355	B	0.11	B	0.000	D	0.594	D	1.175	L	1.67	T	-1.011	T	0.050	T	0.155	2.806	15.34	4.09	0.825	4.516	7.709	0.076	0.00958433338634	0.0023	0.00119808	0.0019	0.0005	0.0013	0	0.0018	0.0028	0.0011	0.0007	0.0019146	296	154602	rs148378319	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0030	0.0030	0.0006	0.0018	0.0048	0	0.0015	0.0005	0.0031	0.0025	0.0008	0.0020	0.0020	0.0021	0.0019	0.0031	0.0018	0.0018	0.0027	0.0025	0.0006	0	0.0031	0.0026	0	0.0012	0.0034	0.0030	0.0024	0.0010	0.15	0.25355	T	0.388	0.30045	T	0.355	0.33731	B	0.11	0.31460	B	0.000001	0.62929	D	0.100213	0.594498	0.32484	D	1.61	0.41143	L	1.67	0.27331	T	-1.52	0.36980	N	0.283	0.32037	-1.0106	0.26729	T	0.050	0.21261	T	10	0.008384824	0.00190	T	0.009584	0.25062	T	0.076	0.22200	.	.	0.570372710236	0.56703	0.4569019088939758	0.45608	0.161409636425	0.18220	0.384141176939	0.22841	T	0.076169	0.35354	T	-0.513158	0.00482	T	-0.507558	0.21566	T	0.0280518462187967	0.01696	T	0.89971	0.64861	D	0.09341193	0.21940	0.06678121	0.13727	0.09341193	0.21939	0.06678121	0.13727	-7.735	0.59251	D	0.2812704806188515	0.37661	0.128	0.28319	B	.;.	.;.	3.570902	0.50292	22.9	0.99532026903583581	0.69963	0.88818	0.48931	D	AEFGBI	0.229714	0.35319	N	-0.0378548052419963	0.40147	2.379276	0.10093688058396	0.44596	2.738356	0.991422493709861	0.32484	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	4.09	0.47038	4.832000	0.62449	3.992000	0.40997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1616:0.7563:0.0:0.0822	7.709	0.27832	921	0.19240	.;.	.	.	.	.	.	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	1191.98	35	chr9	108901650	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=789;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.830e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr9	128222504	128222504	G	C	exonic	DNM1	.	unknown	UNKNOWN,	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4	H	-2.56	D	1.036	D	0.888	D	0.899	4.936	28.6	5.13	1.564	9.869	15.508	0.864	0.574462998864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.68	0.94442	H	-2.56	0.89627	D	-7.01	0.93764	D	0.911	0.92784	1.036	0.97824	D	0.888	0.96288	D	10	0.97896105	0.97796	D	0.574463	0.96164	D	0.864	0.95876	0.901	0.97816	0.930743127106	0.93003	0.976113879073737	0.97601	2.5862836791	0.98110	0.913561940193	0.97795	D	0.899489	0.98018	D	0.481517	0.93753	D	0.453889	0.93674	D	0.999663472175598	0.98390	D	0.999394	0.99801	D	0.9834653	0.99363	0.9655975	0.99260	0.9834653	0.99363	0.9655975	0.99261	-12.838	0.89438	D	0.8940218923530909	0.94775	1.0	0.99952	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.506691	0.91640	32	0.99932305527895715	0.99439	0.99372	0.95168	D	AEFBI	0.971932	0.99388	D	1.01847129112068	0.96286	14.51336	0.929562508321978	0.96736	15.07807	0.999999999843717	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	6.03	5.13	0.69729	10.003000	0.99689	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0662:0.0:0.9338:0.0	15.508	0.75490	309	0.87553	Dynamin central domain;.;.;.;Dynamin central domain;.;Dynamin central domain;.;Dynamin central domain	.	.	.	.	.	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	0.025	129.33	63	chr9	128222504	.	G	C	129.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.281e+00;DP=1538;ExcessHet=0.0000;FS=278.617;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.20;SOR=8.525	GT:AD:DP:GQ:PL	0/0:83,0:83:93:0,93,2100	19	0	1	1
chr10	14908710	14908710	G	C	exonic	DCLRE1C	.	nonsynonymous SNV	DCLRE1C:NM_001289076:exon12:c.C1432G:p.Q478E	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.018	B	0.092	N	1.000	D	2.045	M	1.83	T	-0.991	T	0.074	T	0.145	2.128	13.07	3.09	0.388	3.001	12.720	0.061	0.0112720859889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.006	0.14184	B	0.018	0.18489	B	0.091744	0.20309	N	0.464654	0.753722	0.81001	D	2.565	0.75005	M	1.83	0.24841	T	-0.69	0.41046	N	0.262	0.34120	-0.9905	0.32475	T	0.074	0.29739	T	10	0.11138207	0.20855	T	0.011272	0.28723	T	0.061	0.17616	0.324	0.30549	0.162503812791	0.15892	0.22021313540207138	0.21937	0.0953587799458	0.10770	0.319591164589	0.13359	T	0.175356	0.52491	T	-0.163187	0.26271	T	-0.472183	0.25281	T	0.599336326122284	0.36374	D	0.717528	0.33029	T	0.20613658	0.42778	0.21629333	0.46251	0.20613658	0.42778	0.21629333	0.46250	-2.44	0.05514	T	0.1596466603897028	0.19424	0.067	0.03162	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.135607	0.27195	17.38	0.98373524023164716	0.40770	0.94142	0.60239	D	AEFGBCI	0.269867	0.38605	N	-0.379349038958607	0.26205	1.428462	-0.291925089173545	0.28364	1.580934	0.990147298710468	0.32054	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.07	3.09	0.34677	2.939000	0.48687	5.012000	0.46677	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.2364:0.6407:0.1229	12.720	0.56509	531	0.73574	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	6175.98	42	chr10	14908710	.	G	C	6175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=1412;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.717;SOR=0.758	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1491	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
chr10	71705013	71705013	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon24:c.G2836A:p.V946M	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	496531	not_provided|not_specified|Usher_syndrome_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.996	D	0.872	P	0.001	D	1.000	D	1.265	L	.	.	-0.916	T	0.181	T	0.162	3.782	19.20	3.53	1.314	3.087	8.582	0.183	0.00942029683707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931850625	9.586e-06	9.577e-06	1.09e-05	8.258e-06	0.0001	5.56e-06	4.35e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	6.296e-06	1.657e-05	1.159e-05	1.315e-05	1.313e-05	0	2.691e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.084	0.55759	T	0.627	0.40110	P	0.23	0.38212	B	0.000657	0.42656	D	0.091610	0.91807	0.36597	D	2.11	0.58565	M	.	.	.	.	.	.	0.335	0.39558	-0.9161	0.46076	T	0.181	0.52813	T	9	0.34992605	0.51875	T	0.00942	0.24693	T	0.183	0.45592	.	.	0.822008364064	0.82033	0.17694574319835527	0.17613	.	.	0.417851090431	0.27541	T	0.015108	0.46904	T	-0.280327	0.10633	T	-0.403778	0.32945	T	0.690274119377136	0.40260	D	0.765423	0.39305	T	0.02416732	0.01222	0.08383662	0.19242	0.02416732	0.01222	0.08383662	0.19242	-4.842	0.35077	T	.	.	0.071	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.290401	0.45128	22.1	0.99849218584555299	0.92838	0.89190	0.49507	D	AEFDGBI	0.363063	0.45209	N	0.0767140295424567	0.45379	2.795355	0.157618041793782	0.47547	2.983315	0.99999610174804	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.5	3.53	0.39533	3.135000	0.50241	1.238000	0.25088	0.676000	0.76740	0.999000	0.42656	0.727000	0.26391	0.431000	0.27472	0.0894:0.33:0.5806:0.0	8.582	0.32798	814	0.42100	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	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	2256.98	36	chr10	71705013	.	G	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-7.750e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	71803310	71803310	G	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon8:c.G1042C:p.E348Q	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	1	1454	63	4	0	71	0.0238335	.	.	55203	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.006	B	0.181	N	0.992	N	-0.03	N	4.65	T	-0.936	T	0.003	T	0.017	-0.378	2.222	-2.58	-0.719	-0.017	16.621	0.072	.	0.0082	0.00658946	0.0144	0.0019	0.0051	0	0.0035	0.0149	0.0189	0.0287	0.00804	1243	154602	rs41281338	0.0100	0.0100	0.0095	0.0105	0.0237	0.0098	0.0098	0.0229	0.0225	0.0013	0.0036	0.0056	5.236e-05	0.0042	0.0186	0.0101	0.0093	0.0237	0.0073	0.0073	0.0072	0.0073	0.0207	0.0069	0.0068	0.0174	0.0162	0.0016	0	0.0061	0.0075	0.0002	0.0032	0.0068	0.0113	0.0066	0.0207	0.58	0.05992	T	0.172	0.30241	T	0.0	0.02946	B	0.005	0.11217	B	0.181411	0.17092	N	0.552256	0.999999	0.08975	N	0.845	0.21182	L	4.65	0.01779	T	-0.05	0.07736	N	0.143	0.17966	-0.9365	0.43164	T	0.003	0.00864	T	10	0.0042585135	0.00085	T	.	.	.	0.072	0.21020	.	.	0.332386209738	0.32853	0.2250098621263309	0.22415	0.141875730321	0.15990	0.290573954582	0.09005	T	0.008282	0.42434	T	-0.757954	0.00016	T	-0.843271	0.01051	T	0.000131290159326566	0.00001	T	0.714629	0.32694	T	0.09665936	0.22772	0.09581675	0.22741	0.07366605	0.16476	0.11269583	0.27192	-1.765	0.02407	T	.	.	0.057	0.00806	B	.;.;.;.	.;.;.;.	0.254778	0.06335	2.799	0.48566796264938689	0.04064	0.01605	0.05203	N	AEFDGBI	0.068685	0.13561	N	-1.37053670912072	0.02918	0.129567	-1.36125860524623	0.03675	0.1719123	0.998552506792226	0.37186	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	-2.58	0.05866	-0.003000	0.12836	0.772000	0.21405	-0.191000	0.09375	0.002000	0.15269	0.207000	0.23614	0.627000	0.32078	0.1008:0.2334:0.6658:0.0	16.621	0.84784	807	0.43470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;.	MICU1	Testis	PSAP|PSAP|PSAP|PSAP	Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	4190.11	34	chr10	71803310	.	G	C	4190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.634;DP=1125;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.393;SOR=0.691	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	19	0	2	0
chr10	77982179	77982179	C	T	exonic	POLR3A	.	nonsynonymous SNV	POLR3A:NM_007055:exon28:c.G3734A:p.R1245Q,	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	316580	Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome|not_provided|POLR3A-related_disorder	MONDO:MONDO:0011897,MedGen:C2676243,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.045	B	0.02	B	0.006	N	0.982	N	1.885	L	-1.12	T	-0.788	T	0.309	T	0.187	2.190	13.28	0.392	0.148	0.624	10.260	0.133	0.0440044966476	0.0018	0.000998403	0.0018	0.0007	0.0002	0.0009	0.0009	0.0028	0.0011	0.0002	0.001824	282	154602	rs143422889	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0027	0.0007	0.0003	0.0008	0.0003	0.0011	0.0014	0.0029	0.0019	0.0002	0.0018	0.0018	0.0020	0.0016	0.0031	0.0016	0.0016	0.0028	0.0027	0.0008	0	0.0009	0.0003	0.0006	0.0009	0	0.0031	0.0010	0.0002	0.16	0.23721	T	0.302	0.28391	T	0.045	0.21781	B	0.02	0.19048	B	0.006403	0.32054	N	0.318671	0.982382	0.24968	N	2.355	0.67662	M	-1.12	0.77593	T	-1.37	0.33998	N	0.267	0.30233	-0.7879	0.55851	T	0.309	0.67940	T	9	0.009936869	0.00223	T	0.044004	0.61272	D	0.133	0.36157	.	.	0.743430985935	0.74112	0.7382162153214712	0.73766	0.400142401929	0.41017	0.341661810875	0.16686	T	0.346686	0.71491	T	-0.422504	0.01649	T	-0.375949	0.36194	T	0.00702428965499727	0.00080	T	0.930207	0.74183	D	0.054966275	0.10618	0.059580483	0.11206	0.043630097	0.06834	0.055580568	0.09775	-8.653	0.65438	D	0.08980600547865497	0.05528	0.069	0.03407	B	.;.	.;.	2.623157	0.34091	19.53	0.98530844866433165	0.42595	0.14091	0.18218	N	AEFDBI	0.055137	0.10085	N	-0.745854919764048	0.14745	0.7371897	-0.72767007597596	0.16273	0.8600793	0.998254746098757	0.36648	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.98	0.392	0.15512	0.647000	0.24500	0.074000	0.14299	-0.189000	0.09497	0.142000	0.23535	0.002000	0.18203	0.985000	0.61073	0.0:0.5214:0.0:0.4786	10.260	0.42602	871	0.31377	RNA polymerase Rpb1, domain 5;RNA polymerase Rpb1, domain 5|DNA-directed RNA polymerase III subunit RPC1, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1101.98	40	chr10	77982179	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.349;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr10	87961005	87961005	A	G	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon8:c.A913G:p.S305G	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	233873	Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.001	N	1.000	D	0.83	L	-3.49	D	0.114	D	0.672	D	0.322	2.978	15.93	5.13	1.942	6.312	14.923	0.214	0.1212646141	.	.	8.251e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775461980	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.23450	T	0.235	0.24767	T	0.0	0.02946	B	0.0	0.01387	B	0.001378	0.39242	N	0.326575	0.999966	0.52935	D	2.215	0.62545	M	-3.49	0.94621	D	-0.73	0.20576	N	0.396	0.43706	0.114	0.84431	D	0.672	0.88650	D	9	0.30101228	0.47645	T	0.121265	0.80199	D	0.214	0.50650	0.376	0.38994	0.884054903663	0.88292	0.61575518438823	0.61507	1.06060620683	0.76461	0.600383281708	0.52958	T	0.666569	0.90056	D	0.0588403	0.59468	T	-0.0564024	0.66582	D	0.436575323343277	0.30303	T	0.813219	0.46599	T	0.11658209	0.27496	0.08884283	0.20740	0.11658209	0.27496	0.08884283	0.20740	-0.745	0.00757	T	0.1292427122168075	0.13476	0.069	0.03887	B	.;.	.;.	3.303809	0.45360	22.1	0.99249717889604838	0.56825	0.99312	0.94338	D	AEFGBI	0.876987	0.80133	D	-0.0697207633882899	0.38726	2.273	0.127743322438425	0.45974	2.851162	0.999999999995036	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.13	5.13	0.69729	5.229000	0.65144	9.266000	0.79598	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.923	0.70499	900	0.24599	Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4808.98	72	chr10	87961005	.	A	G	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.892e+00;DP=2082;ExcessHet=0.0000;FS=3.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.49;MQRankSum=-5.550e-01;QD=12.05;ReadPosRankSum=0.378;SOR=0.544	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	20	0	1	0
chr10	98429810	98429810	C	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322480:exon7:c.G587T:p.G196V	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1886109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.554	P	0.244	B	0.002	N	1.000	N	0.69	N	1.61	T	-1.066	T	0.073	T	0.076	0.058	4.318	0.151	-0.063	0.961	3.274	0.048	0.0301203275644	.	.	2.483e-05	0	0	0	0	4.525e-05	0	0	1.94e-05	3	154602	rs74154475	2.053e-05	2.052e-05	1.77e-05	2.338e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0	2.158e-05	0	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.265	0.16305	T	0.415	0.34241	T	0.554	0.38213	P	0.244	0.38795	B	0.001574	0.00800	N	2.870320	1	0.08975	N	1.39	0.34934	L	1.61	0.42122	T	-0.96	0.25551	N	0.197	0.24510	-1.0655	0.10432	T	0.073	0.29515	T	10	0.07109341	0.10432	T	0.03012	0.52495	D	0.048	0.13305	0.169	0.07419	0.188950314367	0.18478	0.23237630519454713	0.23152	0.221833039639	0.24722	0.26722034812	0.05781	T	0.069725	0.33781	T	-0.442799	0.01245	T	-0.671173	0.07534	T	0.0496178790926933	0.05434	T	0.351465	0.08961	T	0.026163831	0.01640	0.033603717	0.02284	0.026163831	0.01639	0.033603717	0.02284	-4.218	0.32209	T	.	.	0.091	0.20430	B	.;.;.;.	.;.;.;.	0.407008	0.07781	4.468	0.55688320436832706	0.05394	0.29693	0.23889	N	AEFDBCI	0.174245	0.30136	N	-1.15801165998637	0.05649	0.2580881	-1.23287260028405	0.05390	0.2566792	0.0165486004274947	0.12843	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.15	0.151	0.14183	0.352000	0.19851	0.095000	0.14569	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1831:0.516:0.0:0.3009	3.274	0.06486	835	0.38313	.;.;.;.	.	.	.	.	.	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	1340.98	43	chr10	98429810	.	C	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=939;ExcessHet=0.0000;FS=16.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.224;SOR=1.654	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr10	98443214	98443214	C	G	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_000195:exon3:c.G27C:p.E9D	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	311911	not_specified|not_provided|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.999	D	0.943	D	0.000	D	0.978	D	2.24	M	1.47	T	-0.998	T	0.103	T	0.331	3.642	18.52	0.483	0.166	0.357	8.575	0.144	.	0.0042	0.00459265	0.0016	0.0130	0.0014	0	0	0.0006	0	0.0001	0.0017011	263	154602	rs7914192	0.0009	0.0009	0.0009	0.0008	0.0138	0.0008	0.0008	0.0127	0.0123	0.0138	0.0026	0	0.0001	0	0.0081	0.0004	0.0028	0.0002	0.0040	0.0040	0.0039	0.0042	0.0120	0.0038	0.0037	0.0111	0.0108	0.0120	0	0.0042	0	0	0	0.0034	0.0005	0.0062	0	0.112	0.34621	T	0.041	0.52060	D	0.995	0.77913	D	0.858	0.67921	P	0.000013	0.62929	D	0.111010	0.977656	0.39387	D	2.57	0.75187	M	1.47	0.31987	T	-1.4	0.34596	N	0.171	0.19728	-0.9983	0.30395	T	0.103	0.37919	T	10	0.00729838	0.00166	T	.	.	.	0.144	0.38394	0.397	0.42426	0.252681307341	0.24864	0.5602575712252362	0.55952	0.152108551472	0.17161	0.480261653662	0.36092	T	0.137529	0.47052	T	-0.480947	0.00730	T	-0.452592	0.27410	T	0.0176005658342346	0.00493	T	0.905809	0.66782	D	0.05464702	0.10513	0.07127513	0.15244	0.065598436	0.14035	0.065546155	0.13301	-9.206	0.69921	D	0.2355084455467367	0.31888	0.166	0.36673	B	.;.;.;.	.;.;.;.	2.183723	0.27838	17.60	0.99713304300734629	0.81493	0.75384	0.36907	D	AEFDBCI	0.330109	0.43025	N	0.20853426575813	0.51610	3.341074	0.0948989334595912	0.44291	2.713758	0.998844893951038	0.37800	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	0.483	0.16030	0.139000	0.15858	0.177000	0.15587	0.599000	0.40250	0.937000	0.32526	0.935000	0.28640	0.902000	0.43815	0.0:0.5504:0.0:0.4496	8.575	0.32751	807	0.43470	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2605.98	33	chr10	98443214	.	C	G	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=922;ExcessHet=0.0000;FS=1.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.840;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	20	0	1	0
chr10	119670071	119670071	C	G	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.C401G:p.S134C,	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	YES	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.004	B	0.000	D	0.967	D	0.805	L	-0.94	T	-0.603	T	0.301	T	0.267	3.736	18.97	4.57	1.296	2.921	16.360	0.189	0.0447048346944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.052	0.54541	T	0.004	0.12183	B	0.004	0.10090	B	0.000149	0.49130	D	0.216416	0.966553	0.38538	D	1.7	0.43825	L	-0.94	0.77466	T	-1.95	0.65742	N	0.216	0.24135	-0.6029	0.64697	T	0.301	0.67251	T	10	0.14242002	0.27052	T	0.044705	0.61621	D	0.189	0.46613	0.181	0.08877	0.685048319655	0.68235	0.3663915645473311	0.36553	0.0751094415851	0.08427	0.380569845438	0.22337	T	0.211382	0.57213	T	-0.0200863	0.48842	T	-0.266629	0.48159	T	0.580213536666316	0.35627	D	0.613539	0.23774	T	0.15434465	0.34938	0.14171591	0.33739	0.15434465	0.34938	0.14171591	0.33738	-5.762	0.44242	T	0.5338731966932068	0.60438	0.097	0.25100	B	.;.	.;.	3.713478	0.53031	23.3	0.99280019675447118	0.57869	0.61435	0.31483	D	AEFDBCI	0.399305	0.47464	N	-0.371360193235478	0.26494	1.446405	-0.247368788255165	0.29862	1.676533	0.999999999427683	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.612816	0.40813	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	4.798000	0.62203	5.931000	0.51320	0.594000	0.32500	0.604000	0.27780	1.000000	0.68203	0.740000	0.35438	0.0:0.868:0.1319:0.0	16.360	0.83092	898	0.25240	.;.	.	.	.	.	.	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	1323.98	34	chr10	119670071	.	C	G	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.844;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	20	0	1	0
chr11	2165311	2165311	C	T	exonic	TH	.	nonsynonymous SNV	TH:NM_000360:exon12:c.G1255A:p.V419M	Segawa syndrome, recessive, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	441420	not_provided|Autosomal_recessive_DOPA_responsive_dystonia|TH-related_disorder	MedGen:C3661900|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.945	P	0.41	B	0.000	D	1.000	N	2.71	M	-6.35	D	0.975	D	0.962	D	0.249	1.523	11.04	1.68	0.310	0.368	9.413	0.543	0.67808789092	0.0002	0.000399361	0.0003	0	0.0005	0	0.0008	0.0004	0	6.067e-05	0.0002652	41	154602	rs184106392	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	0.0003	0.0004	0.0033	2.519e-05	0.0008	0.0023	0.0002	0.0004	5.797e-05	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	4.813e-05	0	0.0008	0.0029	0	0.0007	0	0.0003	0	0.0002	0.025	0.47320	D	0.094	0.52389	T	0.849	0.46879	P	0.33	0.42079	B	0.000007	0.62929	D	0.063348	0.99984	0.53665	D	2.77	0.80896	M	-6.35	0.99666	D	-2.16	0.48850	N	0.407	0.47301	0.975	0.96782	D	0.962	0.98783	D	10	0.16525722	0.30893	T	0.678088	0.97328	D	0.543	0.80960	.	.	0.903889715859	0.90293	0.5586178128385867	0.55788	0.740263202564	0.63223	0.339828282595	0.16412	T	0.888512	0.97716	D	-0.0659925	0.41965	T	-0.00460974	0.70036	D	0.0655731881956561	0.08016	T	0.889111	0.62170	D	0.5656577	0.70822	0.37036392	0.62287	0.5656577	0.70823	0.37036392	0.62287	-7.775	0.67903	D	0.20341262228783946	0.27082	0.119	0.25100	B	.;.;.;.	.;.;.;.	2.385035	0.30617	18.49	0.98992623658267909	0.49983	0.20752	0.21156	N	AEFDBI	0.228974	0.35257	N	-0.276225320197688	0.30068	1.673243	-0.425508214577846	0.24251	1.326986	0.232902467710108	0.18485	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	1.68	0.23219	0.650000	0.24544	0.668000	0.20568	0.549000	0.26987	0.018000	0.19461	0.135000	0.23037	0.468000	0.28296	0.0:0.8139:0.0:0.1861	9.413	0.37668	988	0.01987	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;.;.;.	.	.	.	.	.	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	1876.98	41	chr11	2165311	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=991;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.307;SOR=0.930	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,113,1677	20	0	1	0
chr11	2587620	2587620	G	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon9:c.G1179T:p.K393N	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	YES	1	1497	22	2	0	26	0.00860927	.	.	77916	Cardiovascular_phenotype|Cardiac_arrhythmia|Long_QT_syndrome_1|Congenital_long_QT_syndrome|not_specified|not_provided|Short_QT_syndrome_type_2|Atrial_fibrillation,_familial,_3|Jervell_and_Lange-Nielsen_syndrome_1|Long_QT_syndrome|Cardiomyopathy	MedGen:CN230736|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083|MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554|MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.77	P	0.5	P	0.000	N	0.991	D	1.82	L	-5.74	D	0.849	D	0.939	D	0.514	0.472	6.560	0.592	0.157	0.373	4.895	0.554	0.267829732212	0.0007	0.000599042	0.0011	0.0003	0.0014	0	0.0008	0.0012	0.0022	0.0015	0.0010349	160	154602	rs12720457	0.0008	0.0008	0.0007	0.0009	0.0080	0.0008	0.0007	0.0061	0.0055	0.0007	0.0015	0.0025	0	0.0006	0.0080	0.0006	0.0012	0.0017	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0009	0.0020	0	0.0006	0.0068	0.0007	0.0005	0.0015	0.174	0.22486	T	0.193	0.31833	T	0.77	0.43887	P	0.5	0.47649	P	0.000000	0.84330	N	0.049620	0.983504	0.41186	D	2.16	0.60381	M	-5.83	0.99392	D	-2.25	0.50337	N	0.805	0.80083	0.849	0.95010	D	0.939	0.98006	D	10	0.026480198	0.00813	T	0.26783	0.89762	D	0.554	0.81601	0.823	0.93527	0.904958230561	0.90401	0.8615672957541449	0.86120	0.440487623201	0.44055	0.651963949203	0.60264	T	0.764798	0.93657	D	-0.141053	0.29723	T	0.00559607	0.70698	D	0.0175471631554296	0.00488	T	0.80302	0.45008	T	0.41296875	0.61620	0.15783057	0.36887	0.4878025	0.66372	0.21849662	0.46553	-8.727	0.65923	D	0.3174439766005681	0.41551	0.422	0.60751	A	.;.;.	.;.;.	3.121519	0.42144	21.5	0.96064174600266095	0.28602	0.78620	0.38816	D	AEFDBI	0.278446	0.39273	N	-0.597937330864264	0.19007	0.9914156	-0.593143438029263	0.19671	1.056447	0.00633602430930672	0.11191	0.676563	0.55306	0	0.588015	0.36545	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.72	0.592	0.16654	0.568000	0.23326	0.435000	0.18365	-0.633000	0.04490	1.000000	0.71638	0.982000	0.30508	0.229000	0.22707	0.3486:0.1533:0.4981:0.0	4.895	0.13100	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	1623.98	34	chr11	2587620	.	G	T	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-6.420e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1373	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
chr11	22272895	22272895	C	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon19:c.C2138G:p.T713S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	192166	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Gnathodiaphyseal_dysplasia|ANO5-Related_Muscle_Diseases|not_provided	MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:CN180644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.03	B	0.258	B	0.000	D	1.000	D	2.375	M	-0.16	T	-0.535	T	0.350	T	0.944	4.314	22.6	5.57	2.776	7.767	19.907	0.498	0.0222549554459	0.0005	0.000199681	0.0007	0	0.0006	0	0	0.0010	0	0.0012	0.0006921	107	154602	rs200631556	0.0008	0.0008	0.0007	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0.0013	0	0	0.0057	0.0008	0.0009	0.0013	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0014	0.0020	0	0	0	0.0013	0.0033	0.0006	0.067	0.35918	T	0.05	0.48080	T	0.03	0.20002	B	0.258	0.39350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	-0.16	0.65378	T	-3.33	0.66206	D	0.854	0.85027	-0.5355	0.67334	T	0.350	0.71399	T	10	0.19104081	0.34773	T	0.022255	0.45130	T	0.498	0.78226	0.638	0.77470	0.64802381883	0.64510	0.6109420288198557	0.61026	0.124345642986	0.14002	0.704861760139	0.67848	T	0.308895	0.68096	T	0.0216646	0.54607	T	0.222965	0.84324	D	0.0878402663427369	0.10959	T	0.89751	0.64163	D	0.44743386	0.63879	0.36949426	0.62218	0.44743386	0.63879	0.36949426	0.62218	-8.152	0.62101	D	0.34720984758349843	0.44465	0.2	0.42361	B	.	.	3.741146	0.53572	23.4	0.99474427690680556	0.66525	0.98626	0.84855	D	AEFBI	0.943100	0.94852	D	0.357017464991941	0.59112	4.087909	0.488150366090404	0.67205	5.052767	0.999999999280968	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.896000	0.85926	7.701000	0.66289	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.907	0.97012	758	0.50837	.	.	.	.	.	.	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	834.98	33	chr11	22272895	.	C	G	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-5.710e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	20	0	1	0
chr11	22274729	22274729	G	A	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon20:c.G2393A:p.R798Q	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	461086	Inborn_genetic_diseases|Gnathodiaphyseal_dysplasia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.938	P	0.131	B	0.154	N	1.000	N	0.55	N	-0.5	T	-0.928	T	0.124	T	0.139	-0.774	0.748	0.182	0.135	0.033	1.552	0.131	0.0227656898248	.	.	8.264e-06	9.649e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs747460085	4.106e-05	4.104e-05	3.268e-05	4.952e-05	0.0002	3.246e-05	2.921e-05	3.978e-05	3.575e-05	0	0	0	2.521e-05	0	0.0002	5.038e-05	3.313e-05	0	2.632e-05	2.627e-05	2.573e-05	2.694e-05	5.891e-05	8.15e-06	5.15e-06	1.975e-05	1.126e-05	0	0	0	0	0	0	0	5.891e-05	0	0	0.535	0.06913	T	0.59	0.08217	T	0.938	0.52538	P	0.131	0.32951	B	0.153610	0.02982	N	1.596500	1	0.08975	N	0.805	0.20218	L	-0.5	0.70480	T	-0.64	0.18670	N	0.267	0.30233	-0.9279	0.44444	T	0.124	0.42862	T	10	0.101085186	0.18447	T	0.022766	0.45688	T	0.131	0.35738	.	.	0.45882554386	0.45509	0.5963549917094241	0.59565	0.110288334965	0.12446	0.255113482475	0.04326	T	0.032613	0.22561	T	-0.303462	0.08337	T	-0.49215	0.23166	T	0.0395653803803227	0.03612	T	0.551245	0.19007	T	0.020014394	0.00547	0.018357502	0.00053	0.020014394	0.00546	0.018357502	0.00053	-2.893	0.09074	T	0.13896877285103246	0.15423	0.088	0.11893	B	.	.	1.643790	0.20977	15.00	0.67268871331594038	0.08304	0.06689	0.12709	N	AEFI	0.139022	0.26049	N	-1.08884514929533	0.06848	0.3164036	-1.15788344281133	0.06627	0.3196441	9.34487207682068E-5	0.04910	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.24	0.182	0.14361	0.200000	0.17055	1.784000	0.28742	-0.759000	0.03520	0.012000	0.18695	0.043000	0.21642	0.069000	0.16583	0.3537:0.1322:0.379:0.1351	1.552	0.02421	758	0.50837	.	.	.	.	.	.	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	1	0	0	0	0.02381	1118.98	44	chr11	22274729	.	G	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.860e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr11	45934054	45934054	C	T	exonic	PHF21A	.	nonsynonymous SNV	PHF21A:NM_001101802:exon18:c.G1957A:p.A653T	.	YES	417	1100	5	0	0	5	0.00226757	.	.	3137066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.005	B	0.000	D	0.971	D	-0.55	N	-3.27	D	-0.206	T	0.533	D	0.262	1.666	11.53	4.37	1.359	1.597	10.105	0.287	0.0308067611505	.	.	0.0002	0	0	0	0	1.515e-05	0	0.0014	0.0001488	23	154602	rs142948382	0.0001	0.0001	5.311e-05	0.0001	0.0016	8.716e-05	8.203e-05	0.0013	0.0013	0	0	0	0	1.873e-05	0	1.799e-06	0.0002	0.0016	4.598e-05	4.594e-05	0	9.405e-05	0.0012	2.109e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.113	0.28772	T	0.639	0.08900	T	0.001	0.07471	B	0.005	0.11217	B	0.000055	0.53742	D	0.118422	0.914167	0.38825	D	0	0.06538	N	-3.62	0.95077	D	-0.59	0.18877	N	0.11	0.17553	-0.2059	0.77519	T	0.533	0.82699	D	10	0.02818793	0.00954	T	0.030807	0.53037	D	0.287	0.60574	0.109	0.01988	0.472160230155	0.46843	0.4406059965749234	0.43977	0.107616531999	0.12144	0.351581931114	0.18154	T	0.059223	0.31057	T	-0.226699	0.17087	T	-0.143966	0.59772	T	0.0396359958861064	0.03624	T	0.805819	0.54290	T	0.091583446	0.21462	0.08640395	0.20016	0.10734878	0.25383	0.090616025	0.21258	-3.53	0.17110	T	0.14058686052569602	0.15745	0.063	0.05404	B	.;.;.	.;.;.	2.575562	0.33383	19.32	0.98034374469494745	0.37735	0.92972	0.57003	D	AEFDBI	0.244420	0.36553	N	-0.396124313537815	0.25606	1.391291	-0.159756804516202	0.33034	1.88548	0.999997761469134	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.3	4.37	0.51830	1.357000	0.33694	0.815000	0.21791	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.998000	0.85391	0.0:0.7798:0.1398:0.0804	10.105	0.41701	330	0.86467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	34	chr11	45934054	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.550e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-2.140e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr11	47349804	47349804	C	G	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.G624C:p.Q208H,	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	YES	1	1518	2	1	0	4	0.00131579	.	.	51945	not_specified|Cardiovascular_phenotype|Cardiomyopathy|not_provided|Left_ventricular_noncompaction_10|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	2.75	M	-0.31	T	0.213	D	0.534	D	0.909	4.439	23.6	4.8	2.385	3.328	18.212	0.613	0.274588298659	0.0004	.	0.0002	0	0	0	0	0.0003	0.0012	0	0.0001423	22	154602	rs202139499	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.988e-05	0	0.0049	0	0	0.0024	1.349e-05	0.0003	2.324e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	1.972e-05	1.124e-05	2.404e-05	0	0	0.0058	0	0	0.0136	5.879e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.47	0.71715	M	-0.31	0.68030	T	-3.94	0.73378	D	0.932	0.93723	0.213	0.86124	D	0.534	0.82757	D	9	0.17741412	0.32775	T	0.274588	0.90007	D	0.613	0.84879	0.51	0.60693	0.919661246558	0.91885	0.7024127926520404	0.70182	0.803777723304	0.66371	0.613187491894	0.54766	T	0.621553	0.88145	D	0.163679	0.70541	D	0.18902	0.82512	D	0.312912847421033	0.25533	T	0.886911	0.61435	D	0.44138905	0.63492	0.5282706	0.72745	0.55306375	0.70127	0.4735367	0.69485	-7.626	0.58492	D	0.7603870661206449	0.84221	0.339	0.70276	B	.;.;.	.;.;.	2.922653	0.38803	20.8	0.99713173107143882	0.81493	0.96663	0.70280	D	AEFDGBI	0.917420	0.88501	D	0.651018964258453	0.76436	6.485945	0.568237069518269	0.72677	5.847478	0.99999999999999	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	2.782000	0.47445	0.841000	0.22043	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.337000	0.25363	0.0:1.0:0.0:0.0	18.212	0.89810	18	0.98631	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	33	chr11	47349804	.	C	G	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.148e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.72;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr11	61368600	61368600	C	T	exonic	TMEM138	.	nonsynonymous SNV	TMEM138:NM_001330281:exon5:c.C206T:p.A69V	Joubert syndrome 16, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	40146	Joubert_syndrome_16	MONDO:MONDO:0013764,MedGen:C3280906,OMIM:614465,Orphanet:2318	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.913	D	0.000	D	1.000	D	2.455	M	-2.61	D	0.767	D	0.810	D	0.883	5.394	34	5.45	2.563	6.930	18.876	0.735	0.21097730234	.	.	8.402e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs387907133	2.058e-06	2.736e-06	0	4.135e-06	0.0003	5.5e-07	1.5e-07	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.013	0.65728	D	0.997	0.70673	D	0.913	0.64886	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-2.61	0.89953	D	-3.29	0.65742	D	0.861	0.89465	0.767	0.93998	D	0.810	0.93572	D	10	0.86135566	0.85357	D	0.210977	0.87281	D	0.735	0.90764	0.444	0.50139	0.958932107382	0.95849	0.7767177279181255	0.77621	1.1623903717	0.79532	0.597974300385	0.52618	T	0.818276	0.95529	D	0.408887	0.90418	D	0.349562	0.90298	D	0.953355431556702	0.64006	D	0.90141	0.65732	D	0.6055836	0.72990	0.39623687	0.64270	0.59362674	0.72348	0.4525798	0.68157	-2.871	0.08857	T	0.7759658241040763	0.85646	0.272	0.62582	B	.;.	.;.	4.122257	0.61622	24.4	0.99907271624964344	0.97726	0.98378	0.82168	D	AEFBCI	0.740619	0.68481	D	0.671105703255618	0.77741	6.733181	0.59981760592093	0.74926	6.221131	0.99999999999999	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	7.079000	0.76510	7.179000	0.57745	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.0:1.0:0.0:0.0	18.876	0.92305	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	453.98	40	chr11	61368600	.	C	T	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.27;SOR=0.656	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1449	20	0	1	0
chr11	64754024	64754024	G	A	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon8:c.C830T:p.A277V	McArdle disease, Autosomal recessive	YES	0	1517	5	0	0	5	0.00164528	0.9843	0.844	199796	Glycogen_storage_disease,_type_V|not_provided|Tip-toe_gait	MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.98	H	-3.63	D	1.091	D	0.943	D	0.954	4.436	23.6	4.8	2.483	9.657	15.389	0.946	0.158071572957	0.0005	0.000998403	0.0010	0.0004	0.0004	0	0	0.0016	0.0085	0.0002	0.0006404	99	154602	rs116135678	0.0009	0.0009	0.0009	0.0009	0.0013	0.0008	0.0008	0.0010	0.0010	0.0003	0.0013	0.0008	0	9.626e-05	0.0002	0.0010	0.0010	0.0001	0.0007	0.0007	0.0009	0.0006	0.0010	0.0006	0.0006	0.0008	0.0008	0.0004	0	0.0008	0.0009	0.0002	9.422e-05	0.0034	0.0010	0.0019	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000422	0.44522	D	0.099614	1	0.81001	D	4.575	0.99193	H	-3.63	0.95111	D	-3.39	0.66896	D	0.86	0.86511	1.091	0.99299	D	0.943	0.98115	D	10	0.3597877	0.52638	T	0.158072	0.83854	D	0.946	0.98921	.	.	0.981337301666	0.98113	0.930101038355278	0.92989	0.663232540941	0.59011	0.595907211304	0.52327	T	0.895794	0.97918	D	0.265292	0.80015	D	0.557856	0.95805	D	0.25692355632782	0.23180	T	0.993601	0.97904	D	0.9139113	0.92663	0.88170856	0.93681	0.9105789	0.92350	0.84944135	0.91468	-12.662	0.87923	D	0.485888924404009	0.56367	0.911	0.83519	P	.;.	.;.	5.923822	0.94075	33	0.99931805513787864	0.99387	0.99791	0.99491	D	AEFDBI	0.911148	0.87004	D	0.942628734366652	0.93685	12.20681	0.801532130829481	0.89899	10.16914	0.999999999978264	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	10.003000	0.99689	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.632000	0.32210	0.0:0.0:1.0:0.0	15.389	0.74451	384	0.83545	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	866.98	36	chr11	64754024	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-1.341e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1126	20	0	1	0
chr11	71435840	71435840	C	G	splicing	DHCR7	NM_001163817:exon9:c.964-1G>C;NM_001360:exon9:c.964-1G>C	.	.	Smith-Lemli-Opitz syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	1.0000	0.936	99628	Smith-Lemli-Opitz_syndrome|DHCR7-related_disorder|Global_developmental_delay|not_provided|See_cases|Inborn_genetic_diseases	MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818|.|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	-5.86	D	0.877	D	0.968	D	0.293	3.873	19.68	5.08	2.363	6.811	15.943	0.557	.	0.0054	0.00259585	0.0042	0.0030	0.0016	0	0.0018	0.0068	0.0015	7.154e-05	0.003758	581	154602	rs138659167	0.0078	0.0077	0.0082	0.0074	0.0094	0.0077	0.0076	0.0092	0.0091	0.0013	0.0019	0.0121	0	0.0016	0.0003	0.0094	0.0066	0.0001	0.0042	0.0042	0.0048	0.0037	0.0068	0.0040	0.0039	0.0063	0.0061	0.0017	0	0.0023	0.0127	0	0.0018	0	0.0068	0.0057	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-5.86	0.99406	D	0.01	0.06868	N	.	.	0.877	0.95365	D	0.968	0.98972	D	6	0.009255409	0.00209	T	.	.	.	0.557	0.81774	.	.	0.888143595402	0.88703	.	.	.	.	.	.	.	0.281177	0.65389	T	0.289476	0.82113	D	0.65	0.98035	D	0.0244085802813395	0.01197	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43366	B	.	.	5.881037	0.93930	33	0.99432579493505502	0.64325	0.97362	0.74270	D	AEFDBCI	0.775278	0.70874	D	1.08993767821549	0.97943	17.08289	0.928480279191329	0.96698	15.02707	0.999999898606532	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.890000	0.75451	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	15.943	0.79559	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	783.98	69	chr11	71435840	.	C	G	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=1668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.327;SOR=0.680	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	20	0	1	0
chr11	77179124	77179124	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon20:c.G2362A:p.G788R	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	947686	Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.002	B	0.002	N	1.000	N	-1.01	N	-0.4	T	-1.030	T	0.073	T	0.101	-0.303	2.557	2.96	1.038	1.196	5.665	0.054	0.0434217532097	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174297656	2.764e-06	3.42e-06	1.372e-06	4.177e-06	2.562e-05	6.5e-07	4.4e-07	.	.	0	2.32e-05	0	2.562e-05	0	0	9.046e-07	0	1.196e-05	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.534	0.06935	T	0.59	0.08535	T	0.0	0.02946	B	0.002	0.06944	B	0.002195	0.37053	N	0.228496	0.999998	0.08975	N	-1.425	0.00578	N	-0.4	0.69287	T	1.1	0.01280	N	0.262	0.29889	-1.0296	0.20583	T	0.073	0.29483	T	10	0.04524219	0.03571	T	0.043422	0.60977	D	0.054	0.15330	0.427	0.47350	0.552326942858	0.54890	0.5580542470242102	0.55732	0.10106423559	0.11422	0.373134732246	0.21280	T	0.136554	0.46899	T	-0.209625	0.19432	T	-0.538888	0.18406	T	0.114232853055	0.13857	T	0.90111	0.69728	D	0.0779042	0.17710	0.07993205	0.18038	0.0779042	0.17709	0.07993205	0.18038	-11.329	0.81431	D	0.05300820745509163	0.01049	0.148	0.32589	B	.;.;.;.;.	.;.;.;.;.	2.454203	0.31607	18.79	0.48862887033006097	0.04113	0.17301	0.19777	N	AEFDBI	0.273884	0.38919	N	-1.00029221102829	0.08598	0.4037377	-0.865544141366955	0.12914	0.6670749	0.999954028505916	0.48110	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.87	2.96	0.33383	0.741000	0.25870	5.864000	0.50463	0.601000	0.45875	0.000000	0.06391	0.994000	0.32194	0.962000	0.52141	0.1683:0.168:0.6636:0.0	5.665	0.16963	604	0.67577	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	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	1181.98	34	chr11	77179124	.	G	A	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=805;ExcessHet=0.0000;FS=9.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.76;SOR=0.995	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr11	77181571	77181571	G	C	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon23:c.G2886C:p.Q962H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	52364	Usher_syndrome_type_1|not_specified|not_provided|Hearing_impairment|Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.902	P	0.547	P	0.000	D	1.000	D	2.175	M	-2.22	D	0.356	D	0.672	D	0.374	3.111	16.39	4.38	1.178	1.339	10.480	0.509	0.142729787417	0.0006	0.000399361	0.0007	0	0.0004	0	0	0.0006	0.0012	0.0025	0.0006986	108	154602	rs200641606	0.0009	0.0009	0.0008	0.0010	0.0023	0.0009	0.0008	0.0020	0.0019	0.0001	0.0008	0	0	0	0.0012	0.0009	0.0009	0.0023	0.0008	0.0008	0.0007	0.0008	0.0021	0.0007	0.0006	0.0011	0.0009	0.0002	0	0.0012	0	0	0	0.0034	0.0012	0.0005	0.0021	0.03	0.45393	D	0.029	0.54541	D	0.835	0.46254	P	0.45	0.46092	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.41	0.69639	M	-2.35	0.88220	D	-2.86	0.60188	D	0.719	0.73555	0.356	0.88432	D	0.672	0.88628	D	10	0.03781724	0.02160	T	0.14273	0.82509	D	0.509	0.78910	0.185	0.09388	0.933037470612	0.93235	0.4215274539480771	0.42068	0.326978781557	0.34837	0.662930965424	0.61828	T	0.761673	0.93549	D	-0.252676	0.13771	T	-0.148958	0.59336	T	0.0780916671038934	0.09741	T	0.954504	0.87759	D	0.349676	0.57042	0.25605518	0.51298	0.349676	0.57042	0.25605518	0.51297	-4.732	0.33789	T	0.2007504194745198	0.26651	0.167	0.45011	B	.;.;.;.;.;.	.;.;.;.;.;.	3.874209	0.56268	23.7	0.99703978305646701	0.80867	0.95648	0.65567	D	AEFGBI	0.803126	0.72835	D	0.318502780478038	0.57097	3.876029	0.322719321125163	0.56878	3.851856	0.139919083158056	0.17253	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.32	4.38	0.52019	1.394000	0.34118	4.453000	0.43430	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.161:0.0:0.839:0.0	10.480	0.43878	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	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	2351.98	35	chr11	77181571	.	G	C	2351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=976;ExcessHet=0.0000;FS=7.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.157;SOR=1.134	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1372	20	0	1	0
chr11	85636171	85636171	G	T	exonic	TMEM126B	.	nonsynonymous SNV	TMEM126B:NM_001256547:exon4:c.G497T:p.G166V	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	YES	433	1088	1	0	0	1	0.000459348	.	.	237764	Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_29|Mitochondrial_disease	MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.995	D	0.000	D	0.999	D	2.455	M	1.18	T	-0.654	T	0.205	T	0.908	3.126	16.45	4.1	2.793	2.341	10.979	0.309	0.0454394286743	0.0012	.	0.0013	0.0003	0.0003	0	0.0012	0.0021	0.0023	0.0001	0.0013195	204	154602	rs141542003	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	9.487e-05	0	0	0.0014	0.0002	0.0018	0.0009	4.73e-05	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	6.551e-05	0.0003	0	0.0010	0	0.0018	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.129538	0.887367	0.46300	D	2.655	0.77738	M	1.18	0.37746	T	-6.17	0.90254	D	0.598	0.65587	-0.6540	0.62539	T	0.205	0.56293	T	9	0.17585585	0.32539	T	0.045439	0.61979	D	0.309	0.63055	.	.	0.333154297509	0.32921	0.6454818489090022	0.64483	0.290691010596	0.31478	0.378399193287	0.22029	T	0.04239	0.26168	T	-0.0886299	0.38302	T	0.106452	0.77337	D	0.0969241983163035	0.12014	T	0.763624	0.39028	T	0.5933246	0.72330	0.44750154	0.67827	0.6463832	0.75172	0.48253524	0.70038	-7.162	0.55208	T	0.5877603048417654	0.65455	0.665	0.74625	P	.;.	.;.	3.502374	0.49009	22.7	0.99381967749807854	0.61935	0.82175	0.41443	D	AEFBI	0.242474	0.36392	N	0.400734397124663	0.61464	4.347764	0.267421096847958	0.53645	3.532609	0.718534203549623	0.22903	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.1	0.47196	2.435000	0.44469	7.931000	0.75020	0.676000	0.76740	0.870000	0.30794	1.000000	0.68203	0.017000	0.10941	0.0:0.1884:0.8116:0.0	10.979	0.46700	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	38	chr11	85636171	.	G	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.960e-01;DP=771;ExcessHet=0.0000;FS=1.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.391e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	89284805	89284805	C	T	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.C1217T:p.P406L,	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	YES	1	1500	18	3	0	24	0.00793651	.	.	18816	Oculocutaneous_albinism|Ocular_albinism_with_congenital_sensorineural_hearing_loss|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Tyrosinase-negative_oculocutaneous_albinism|Oculocutaneous_albinism_type_1B|Abnormality_of_the_skin|not_provided|TYR-related_disorder|Hearing_impairment|Inborn_genetic_diseases	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:CN028925|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	A	2.505	M	-5.19	D	1.097	D	0.968	D	0.877	4.485	24.0	4.68	2.166	7.381	17.625	0.921	0.544949560015	0.0036	0.00199681	0.0035	0.0007	0.0011	0.0002	0.0099	0.0045	0.0022	0.0019	0.0005821	90	154602	rs104894313	0.0046	0.0047	0.0047	0.0045	0.0056	0.0045	0.0045	0.0047	0.0047	0.0005	0.0018	0.0091	5.043e-05	0.0107	0.0056	0.0048	0.0046	0.0020	0.0037	0.0037	0.0033	0.0041	0.0045	0.0034	0.0033	0.0041	0.0039	0.0011	0	0.0027	0.0092	0	0.0108	0	0.0045	0.0052	0.0029	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.365	0.91266	M	-5.19	0.98838	D	-4.3	0.76496	D	0.875	0.87265	1.097	0.99552	D	0.968	0.98993	D	8	0.037014306	0.02032	T	0.54495	0.95779	D	0.921	0.98003	.	.	0.995345409781	0.99529	0.8822665376559435	0.88194	0.0594517113591	0.06608	0.474457263947	0.35295	T	0.833823	0.96059	D	0.172752	0.71376	D	0.477013	0.94154	D	0.0204034174202131	0.00740	T	0.791921	0.43319	T	0.47709885	0.65724	0.3593413	0.61395	0.47709885	0.65724	0.3593413	0.61394	-10.302	0.75700	D	0.6564132779359806	0.72927	0.234	0.46756	B	.	.	4.758256	0.76898	26.6	0.99867932480707045	0.94547	0.97660	0.76227	D	AEFGI	0.928006	0.91155	D	0.700133257746569	0.79642	7.120714	0.63572376952635	0.77551	6.701336	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.416000	0.79356	7.705000	0.66497	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.625	0.87992	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	381.98	40	chr11	89284805	.	C	T	381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=764;ExcessHet=0.0000;FS=7.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.64;MQRankSum=-4.850e+00;QD=8.13;ReadPosRankSum=0.434;SOR=2.026	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1129	20	0	1	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	1	1484	37	0	0	37	0.0123128	.	.	132799	not_specified|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|Malignant_tumor_of_breast	MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.175	L	0.55	T	-1.027	T	0.068	T	0.69	-0.024	3.890	1.13	-0.045	0.130	9.764	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	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	997.98	41	chr11	108251973	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=772;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.740e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1336	20	0	1	0
chr11	108331989	108331989	A	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon52:c.A7740C:p.R2580S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	.	.	.	.	.	.	.	.	.	132905	not_provided|Ovarian_cancer|Familial_cancer_of_breast|ATM-related_disorder|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.000	D	1.000	D	2.045	M	-1.2	T	-0.713	T	0.317	T	0.598	0.742	7.937	2.08	0.604	0.760	6.687	0.363	0.10685354457	.	0.000599042	4.13e-05	0	0.0002	0	0	4.508e-05	0	0	5.82e-05	9	154602	rs199915459	6.089e-05	6.088e-05	6.126e-05	6.051e-05	0.0005	5.028e-05	4.672e-05	0.0004	0.0003	0.0001	0.0005	0	0	0	0.0002	3.777e-05	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	7.215e-05	0	0.0020	0	0	0	0	8.819e-05	0.0024	0	0.132	0.26519	T	0.841	0.03600	T	0.001	0.07471	B	0.003	0.08700	B	0.000070	0.52346	D	0.186382	1	0.81001	D	2.71	0.79292	M	-1.2	0.78537	T	-0.98	0.25986	N	0.345	0.52386	-0.7134	0.59786	T	0.317	0.68637	T	10	0.026328593	0.00802	T	0.106854	0.78266	D	0.363	0.68319	0.496	0.58520	0.757967309945	0.75577	0.5729483782031736	0.57222	0.142587795851	0.16085	0.447275221348	0.31573	T	0.050935	0.28737	T	-0.156566	0.27288	T	-0.160952	0.58266	T	0.03757357264184	0.03256	T	0.680832	0.28956	T	0.16546224	0.36820	0.13712975	0.32785	0.16546224	0.36819	0.13712975	0.32784	-3.618	0.18118	T	.	.	0.285	0.51772	B	.;.	.;.	2.195376	0.27999	17.65	0.85510436981201221	0.15938	0.79418	0.39350	D	AEFBI	0.244151	0.36531	N	-0.581005209925124	0.19521	1.022373	-0.502902102901758	0.22074	1.197187	0.00516952995343374	0.10849	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.08	0.26079	0.807000	0.26800	1.281000	0.25351	-0.151000	0.12117	0.991000	0.37257	1.000000	0.68203	0.706000	0.34326	0.4928:0.0:0.5072:0.0	6.687	0.22340	147	0.94143	.;.	.	.	.	.	.	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	1305.98	34	chr11	108331989	.	A	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=806;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=7.000e-03;SOR=1.107	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr11	119027660	119027660	T	A	exonic	SLC37A4	.	nonsynonymous SNV	SLC37A4:NM_001164280:exon4:c.A593T:p.N198I	Glycogen storage disease Ib, Autosomal recessive;Glycogen storage disease Ic, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	142891	not_specified|Glucose-6-phosphate_transport_defect|not_provided	MedGen:CN169374|MONDO:MONDO:0009288,MedGen:C0268146,OMIM:232220,Orphanet:364,Orphanet:79259|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0552142501722	0.0045	0.00239617	0.0036	0.0015	0.0042	0	0.0014	0.0054	0.0056	0.0002	0.0036934	571	154602	rs34203644	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0058	0.0058	0.0009	0.0052	0.0033	0	0.0012	0.0007	0.0059	0.0049	0.0003	0.0039	0.0039	0.0040	0.0037	0.0080	0.0036	0.0035	0.0068	0.0064	0.0011	0	0.0080	0.0037	0.0002	0.0008	0	0.0057	0.0047	0.0002	.	.	.	0.012	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.80767	.	.	.	.	.	.	.	0.015274823	0.00321	T	0.055214	0.66150	D	.	.	.	.	0.579463755994	0.57616	0.7255319220428349	0.72497	0.0879410634102	0.09929	0.548644661903	0.45666	T	0.39812	0.75713	T	-0.0442598	0.45316	T	0.167373	0.81253	D	.	.	.	0.90351	0.66162	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.35951	B	.;.;.;.	.;.;.;.	3.467044	0.48348	22.6	0.85434280017370734	0.15890	0.94848	0.62539	D	AEFDBCI	0.789781	0.71887	D	.	.	.	.	.	.	0.99999999469522	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.17	5.17	0.70848	3.772000	0.55034	6.210000	0.55001	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:0.0:1.0	15.173	0.72571	248	0.90287	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1015.98	36	chr11	119027660	.	T	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=881;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.243;SOR=0.553	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1295	20	0	1	0
chr11	134253603	134253603	G	T	exonic	ACAD8	.	startloss	ACAD8:NM_014384:exon1:c.G3T:p.M1?,	Isobutyryl-CoA dehydrogenase deficiency	YES	.	.	.	.	.	.	.	.	.	421837	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.049	B	0.016	B	0.034	N	1.000	D	.	.	-4.01	D	0.563	D	0.832	D	0.79	3.733	18.96	5.61	2.645	1.795	12.590	0.491	0.994181855931	.	.	8.104e-05	0	0.0008	0.0008	0	0	0	0	1.29e-05	2	154602	rs751940610	8.382e-06	1.368e-05	9.701e-06	7.042e-06	0.0002	4.47e-06	3.53e-06	0.0001	7.575e-05	0	2.432e-05	0	0.0002	0	0	9.096e-07	1.687e-05	1.207e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	6.86e-05	2.869e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.033664	0.24868	N	0.457306	1	0.81001	D	.	.	.	-4.4	0.97419	D	-0.58	0.17417	N	0.767	0.76481	0.563	0.91412	D	0.832	0.94366	D	9	0.98450315	0.98649	D	0.994182	0.99984	D	0.491	0.77783	0.986	0.99859	0.943284361215	0.94269	0.6206535551178631	0.61998	.	.	.	.	.	0.298382	0.67095	T	0.45214	0.92578	D	0.66	0.99401	D	0.995510816574097	0.87564	D	0.9	0.65058	D	0.95435405	0.96708	0.89949656	0.94940	0.95435405	0.96709	0.89949656	0.94940	-9.867	0.73112	D	.	.	.	.	.	.;.	.;.	2.510174	0.32421	19.04	0.9870771449045872	0.45011	0.34532	0.25090	N	AEFGBHCIJ	0.022632	0.01157	N	-0.417388833971235	0.24859	1.345315	-0.396569910620965	0.25098	1.378	0.999999999999998	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.61	5.61	0.85347	4.122000	0.57661	4.405000	0.43261	0.676000	0.76740	0.648000	0.28154	1.000000	0.68203	0.003000	0.05239	0.0771:0.0:0.9229:0.0	12.590	0.55791	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	134253603	.	G	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.590e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	20	0	1	0
chr12	7201782	7201782	C	G	exonic	PEX5	.	nonsynonymous SNV	PEX5:NM_001374647:exon6:c.C583G:p.Q195E	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.055	B	0.036	B	0.000	D	0.993	D	1.04	L	-2.01	D	-0.421	T	0.443	T	0.383	1.502	10.97	5.21	2.593	2.494	13.986	0.264	0.0587695205325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.052	0.49120	T	0.031	0.22733	B	0.013	0.22909	B	0.000306	0.45977	D	0.185361	0.992597	0.41689	D	1.39	0.34934	L	-2.2	0.87038	D	-0.7	0.21860	N	0.249	0.45237	-0.4210	0.71360	T	0.443	0.78039	T	10	0.22714177	0.39587	T	0.05877	0.67435	D	0.264	0.57741	0.354	0.35408	0.786066119495	0.78408	0.32758546421041723	0.32671	0.307891697751	0.33085	0.388164579868	0.23411	T	0.070753	0.56045	T	0.0706692	0.60931	D	-0.136265	0.60441	T	0.582267999649048	0.35706	D	0.938306	0.85427	D	0.124520406	0.29214	0.08392887	0.19269	0.124520406	0.29213	0.08392887	0.19269	-5.677	0.43578	T	.	.	0.087	0.31683	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.740586	0.22151	15.50	0.97403951573796188	0.33790	0.95614	0.65428	D	AEFDGBI	0.661768	0.63187	D	-0.272048718578449	0.30233	1.683767	-0.101037201342009	0.35350	2.044032	0.817829475186041	0.24470	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.946000	0.48742	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.1883:0.8117:0.0:0.0	13.986	0.63849	.	.	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	801.98	33	chr12	7201782	.	C	G	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.531e+00;DP=773;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=1.72;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	20	0	1	0
chr12	32755145	32755145	C	T	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G730A:p.G244R,	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.12	H	-3.72	D	1.088	D	0.953	D	0.995	4.597	25.0	4.97	1.496	7.556	13.462	0.967	0.359161516086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345057239	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.65	0.99371	H	-3.72	0.95422	D	-7.36	0.94647	D	0.99	0.99725	1.088	0.99146	D	0.953	0.98456	D	10	0.99277556	0.99812	D	0.359162	0.92467	D	0.967	0.99571	0.983	0.99835	0.87456900688	0.87334	0.9596182592128978	0.95947	1.49302492565	0.86914	0.739516615868	0.72902	T	0.698693	0.91304	D	0.493166	0.94088	D	0.567477	0.96189	D	0.999752819538116	0.98831	D	0.971103	0.89589	D	0.97762394	0.98923	0.9908132	0.99984	0.97762394	0.98923	0.9908132	0.99984	-12.995	0.89343	D	0.8919925867649886	0.94634	0.926	0.84680	P	.	.	5.497151	0.91543	32	0.99912758973917637	0.98167	0.60995	0.31356	D	ALL	0.888545	0.82176	D	0.84934341144086	0.89071	9.82318	0.704580888815871	0.82727	7.839096	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.86	4.97	0.65419	7.635000	0.82446	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9279:0.0:0.0721	13.462	0.60683	764	0.49969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2863.98	35	chr12	32755145	.	C	T	2863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=881;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.38;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1335	20	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	YES	2	1502	18	0	0	18	0.00595632	.	.	54188	Cardiomyopathy|not_specified|Arrhythmogenic_right_ventricular_dysplasia_9|PKP2-related_disorder|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|.|MedGen:CN230736|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.956	P	0.712	P	0.004	N	0.956	D	0.555	N	0.86	T	-0.803	T	0.193	T	0.384	3.001	16.01	4.7	1.880	3.390	10.608	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	33	chr12	32850772	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=875;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.150e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr12	47978057	47978057	C	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon43:c.G2857T:p.V953L	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.492	P	0.23	B	0.000	D	1.000	D	1.12	L	-3.19	D	0.455	D	0.709	D	0.471	3.883	19.73	5.39	2.517	2.185	17.932	0.418	0.0734176801487	.	.	8.543e-06	0	0	0	0	0	0	6.21e-05	1.29e-05	2	154602	rs199642249	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.31	0.22223	T	0.36	0.36976	B	0.161	0.38212	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.145	0.29067	L	-3.19	0.93170	D	-1.5	0.37375	N	0.452	0.50868	0.455	0.89901	D	0.709	0.89980	D	10	0.43403444	0.57676	T	0.073418	0.71785	D	0.418	0.72780	0.355	0.35571	0.785298969826	0.78331	0.5170034956118461	0.51623	0.309757753492	0.33285	0.680987119675	0.64410	T	0.414235	0.76786	T	0.0634064	0.60039	T	-0.0460675	0.67291	D	0.535954537824837	0.33954	D	0.652935	0.26315	T	0.46143055	0.64760	0.2552888	0.51209	0.46143055	0.64761	0.2552888	0.51208	-4.651	0.33295	T	0.18814781869959546	0.24559	0.248	0.48272	B	.;.	.;.	4.281684	0.65228	24.8	0.99357183468452148	0.60862	0.94590	0.61662	D	AEFDBI	0.704479	0.66018	D	0.128224121499909	0.47782	2.999228	0.26008128902079	0.53223	3.492506	0.999996889514067	0.74766	0.833774	0.99917	0	0.610034	0.51514	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	4.157000	0.57925	6.015000	0.52706	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.932	0.88919	631	0.64944	.;.	.	.	.	.	.	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	1487.98	33	chr12	47978057	.	C	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=803;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=0.824;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr12	52316960	52316960	G	A	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon5:c.C814T:p.R272W,	.	YES	0	1521	1	0	0	1	0.000328623	.	.	3269532	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.115	B	0.178	B	0.002	U	0.996	D	3.695	H	-1.13	T	0.095	D	0.564	D	0.848	2.954	15.85	2.99	0.739	3.719	12.956	0.662	0.021760423153	.	.	7.413e-05	9.61e-05	0	0	0	8.99e-05	0.0022	0	7.12e-05	11	154602	rs775360623	0.0001	0.0001	0.0001	0.0001	0.0005	9.468e-05	8.949e-05	0.0001	9.742e-05	2.987e-05	2.236e-05	0	0	1.872e-05	0.0005	0.0001	0.0003	1.159e-05	0.0001	0.0001	0.0001	8.073e-05	0.0002	6.514e-05	5.325e-05	9.048e-05	7.012e-05	9.659e-05	0	6.545e-05	0	0	0	0	0.0002	0	0	0.025	0.47320	D	0.018	0.59732	D	0.115	0.26429	B	0.178	0.35748	B	0.002039	0.37411	U	0.000000	0.99625	0.43101	D	.	.	.	-1.13	0.77719	T	-6.6	0.92042	D	0.818	0.81360	0.095	0.84076	D	0.564	0.84175	D	10	0.8922057	0.88565	D	0.02176	0.44572	T	0.662	0.87381	.	.	0.687612352757	0.68493	0.12652405071233017	0.12578	0.19407768527	0.21745	0.536508619785	0.43953	T	0.547425	0.84614	D	0.118226	0.66193	D	0.147382	0.80018	D	0.485309281662013	0.32092	T	0.915808	0.69967	D	0.62397826	0.73976	0.55902416	0.74488	0.62397826	0.73977	0.55902416	0.74489	-7.968	0.60852	D	0.5009849753343736	0.57620	0.330	0.55201	B	.	.	3.810288	0.54953	23.6	0.99824732761495349	0.90677	0.95320	0.64263	D	AEFDGBI	0.743830	0.68701	D	0.138014001085246	0.48245	3.039245	0.134001119536022	0.46299	2.878209	0.999993815130965	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.9	2.99	0.33673	3.220000	0.50909	.	.	0.676000	0.76740	1.000000	0.71638	0.012000	0.20211	0.997000	0.79791	0.0:0.0:0.8366:0.1634	12.956	0.57824	717	0.55835	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	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	4426.98	39	chr12	52316960	.	G	A	4426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=2048;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.000e+00;QD=13.42;ReadPosRankSum=1.65;SOR=0.626	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	20	0	1	0
chr12	57765022	57765022	A	C	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon4:c.T779G:p.M260R,	Vitamin D-dependent rickets, type I, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	2795185	Vitamin_D-dependent_rickets,_type_1A|not_provided	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.968	D	0.000	D	1.000	D	1.24	L	2.68	T	-0.272	T	0.367	T	0.951	4.255	22.2	4.89	2.056	8.540	13.615	0.749	0.177764706137	.	.	8.381e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs752696414	6.842e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.994	0.66517	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-0.35	0.68616	T	-4.29	0.76414	D	0.916	0.91852	-0.2723	0.75750	T	0.367	0.72742	T	10	0.84472066	0.83634	D	0.177765	0.85311	D	0.749	0.91371	0.706	0.84236	0.95296664669	0.95246	0.9885819533402649	0.98852	1.64295023885	0.89391	0.757340431213	0.75534	T	0.690665	0.91003	D	0.283651	0.81627	D	0.266522	0.86404	D	0.98850154876709	0.78827	D	0.734827	0.42806	T	0.968684	0.98137	0.93274367	0.97283	0.968684	0.98137	0.93274367	0.97283	-12.782	0.88445	D	0.5834737287425094	0.65029	0.907	0.83252	P	.;.	.;.	6.245146	0.94869	34	0.98703011001037089	0.44939	0.97999	0.78758	D	AEFDGBCI	0.957534	0.97677	D	0.658478366352148	0.76919	6.575922	0.659523272039407	0.79323	7.057906	1.0	0.98316	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.89	4.89	0.63387	8.824000	0.91650	11.201000	0.89033	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.615	0.61574	182	0.92924	.;.	.	.	.	.	.	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	3089.98	40	chr12	57765022	.	A	C	3089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=987;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.31;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr12	57782806	57782806	C	T	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_001172695:exon1:c.C5T:p.S2L	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	693265	not_provided|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3	MedGen:C3661900|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.002	B	0.038	N	1.000	D	0.695	N	.	.	-1.054	T	0.054	T	0.164	1.404	10.63	2.23	0.577	-0.442	5.103	0.057	.	0.0082	0.00798722	0.0041	0.0386	0.0026	0	0	9.764e-05	0.0057	0	0.0017788	275	154602	rs35957924	0.0007	0.0007	0.0008	0.0006	0.0232	0.0007	0.0007	0.0218	0.0213	0.0232	0.0012	0.0002	0	0	0.0010	8.261e-05	0.0018	0.0001	0.0064	0.0064	0.0065	0.0063	0.0226	0.0060	0.0059	0.0214	0.0209	0.0226	0	0.0016	0	0	0	0	5.88e-05	0.0014	0.0002	0.177	0.33585	T	0.022	0.63109	D	0.0	0.07471	B	0.0	0.06944	B	0.038485	0.24280	N	0.426980	1	0.81001	D	0.205	0.09354	N	.	.	.	-0.91	0.29323	N	0.14	0.24135	-1.0540	0.13305	T	0.054	0.22883	T	9	0.00456059	0.00095	T	.	.	.	0.057	0.16321	.	.	0.300784259202	0.29686	0.5627483519996492	0.56201	0.049866187842	0.05475	0.432685732841	0.29575	T	0.132655	0.46288	T	-0.521536	0.00431	T	-0.505007	0.21830	T	0.00979287582478674	0.00129	T	0.870113	0.57479	D	0.037204824	0.04726	0.07059031	0.15015	0.034295496	0.03822	0.10068792	0.24082	-4.262	0.34440	T	.	.	0.168	0.37914	B	.;.;.;.;.;.	.;.;.;.;.;.	0.826523	0.11977	8.538	0.96960745902308587	0.31779	0.16319	0.19334	N	ALL	0.115958	0.22778	N	-0.764139072462668	0.14252	0.7084264	-0.666016537484574	0.17813	0.9488337	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.69	2.23	0.27189	-0.439000	0.06967	-0.345000	0.09787	-2.067000	0.00410	0.884000	0.31069	0.000000	0.08366	0.004000	0.06068	0.0:0.6514:0.2049:0.1438	5.103	0.14102	189	0.92630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1811.98	133	chr12	57782806	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=859;ExcessHet=0.0000;FS=4.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=1.98;SOR=0.685	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1441	20	0	1	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	5	1461	53	3	0	59	0.019792	.	.	131794	Joubert_syndrome_5|not_provided|Kidney_disorder|Leber_congenital_amaurosis|Meckel_syndrome,_type_4|Bardet-Biedl_syndrome_14|Leber_congenital_amaurosis_10|Senior-Loken_syndrome_6|Retinal_dystrophy|not_specified|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome	MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.466	P	0.048	B	0.000	D	1.000	D	-0.345	N	0.0	T	-0.460	T	0.241	T	0.394	3.209	16.75	4.28	2.590	2.734	5.178	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.04762	1348.11	27	chr12	88079219	.	C	T	1348.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=624;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=2.26;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	19	0	2	0
chr12	88106877	88106877	G	A	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon25:c.C2615T:p.S872L,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	956981	not_provided|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Meckel_syndrome,_type_4|Joubert_syndrome_5|Leber_congenital_amaurosis|Intellectual_disability|CEP290-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN239314	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.837	P	0.236	B	0.005	N	1.000	D	0.895	L	2.03	T	-1.109	T	0.039	T	0.249	3.085	16.30	5.89	2.782	5.834	16.501	0.067	0.00719299478929	0.0003	0.000399361	0.0004	0.0001	0	0.0003	0	0.0003	0	0.0010	0.0002329	36	154602	rs373341530	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	2.999e-05	6.86e-05	0	0.0002	0	0	0.0002	0.0002	0.0014	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	7.234e-05	0	0.0002	0	0.0002	0	0	0.0004	0	0.0021	0.043	0.41364	D	0.039	0.51112	D	0.837	0.46346	P	0.236	0.38470	B	0.005391	0.32840	N	0.293216	0.598506	0.81001	D	1.7	0.43825	L	2.03	0.20959	T	-2.65	0.56787	D	0.22	0.24758	-1.1092	0.03139	T	0.039	0.16720	T	10	0.029752225	0.01101	T	0.007193	0.19061	T	0.067	0.19503	.	.	0.445210270852	0.44144	0.2065769744502968	0.20573	0.0702682139411	0.07872	0.360459089279	0.19453	T	0.363886	0.72956	T	-0.433712	0.01408	T	-0.446214	0.28114	T	0.0840953545292668	0.10502	T	0.926307	0.72903	D	0.19218196	0.40878	0.17543435	0.40009	0.19218196	0.40877	0.17543435	0.40008	-7.057	0.54449	T	0.20738423840517686	0.27717	0.089	0.18122	B	.;.;.	.;.;.	4.205414	0.63487	24.6	0.99795565500591166	0.88106	0.97462	0.74905	D	AEFBI	0.709356	0.66347	D	0.282194196185829	0.55244	3.688746	0.397394384090183	0.61403	4.340043	0.999908331550125	0.45458	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	5.947000	0.69957	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1307:0.8693:0.0	16.501	0.84103	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1885.98	34	chr12	88106877	.	G	A	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=866;ExcessHet=0.0000;FS=3.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-8.620e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	20	0	1	0
chr12	102912794	102912794	A	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon2:c.T165G:p.F55L	Phenylketonuria, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	98641	Phenylketonuria|Hyperphenylalaninemia|not_provided|See_cases	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.989	D	0.91	D	0.000	D	1.000	D	1.985	M	-5.64	D	1.054	D	0.962	D	0.831	3.263	16.95	4.33	0.911	3.047	8.93	0.853	0.612631081136	.	.	9.063e-05	0	0.0003	0	0	0.0001	0	0	8.41e-05	13	154602	rs199475598	8.535e-05	8.688e-05	8.911e-05	8.156e-05	0.0008	7.253e-05	6.838e-05	0.0006	0.0005	9.01e-05	0.0008	3.837e-05	0	0	0.0002	6.976e-05	9.981e-05	2.323e-05	0.0002	0.0002	6.422e-05	0.0003	0.0016	0.0001	0.0001	0.0011	0.0010	4.824e-05	0	0.0016	0	0	0	0	4.409e-05	0	0	0.096	0.91255	T	0.12	0.92824	T	0.89	0.48942	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-5.64	0.99249	D	-4.98	0.89029	D	0.863	0.89800	1.054	0.98198	D	0.962	0.98793	D	10	0.8023075	0.79616	D	0.612631	0.96623	D	0.853	0.95470	0.86	0.95774	0.984945034095	0.98478	0.8590593700418251	0.85868	0.224652461298	0.24998	0.615614533424	0.55109	T	0.965695	0.99588	D	0.134391	0.67786	D	0.356888	0.90583	D	0.675697565078735	0.39593	D	0.962254	0.85785	D	0.8440735	0.86901	0.66627944	0.80431	0.8436373	0.86871	0.66973543	0.80625	-8.241	0.62700	D	0.17104940695263118	0.21539	0.917	0.89526	P	.;.;.;.	.;.;.;.	3.647873	0.51758	23.1	0.99440077188276055	0.64720	0.90169	0.51136	D	AEFBI	0.777258	0.71012	D	0.383867446518945	0.60548	4.244872	0.367309881784486	0.59556	4.134594	0.999991428284611	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.369000	0.52092	4.466000	0.43477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.9144:0.0:0.0856:0.0	8.93	0.34824	768	0.49510	ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	34	chr12	102912794	.	A	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.237e+00;DP=850;ExcessHet=0.0000;FS=4.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.213;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	20	0	1	0
chr12	108887506	108887506	C	T	exonic	DAO	.	nonsynonymous SNV	DAO:NM_001917:exon3:c.C251T:p.A84V,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.959	D	0.000	D	1.000	D	2.535	M	1.17	T	0.425	D	0.683	D	0.545	3.707	18.83	5.52	2.599	5.665	18.024	0.500	0.139380528404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.72154	T	0.012	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.049901	0.644584	0.81001	D	2.895	0.83812	M	1.17	0.80125	T	-2.76	0.67477	D	0.234	0.26354	0.425	0.89475	D	0.683	0.89040	D	10	0.7672936	0.76804	D	0.139381	0.82186	D	0.500	0.78350	0.631	0.76699	0.941913673381	0.94130	0.879160260496193	0.87883	0.296383753577	0.32023	0.41980278492	0.27809	T	0.078023	0.88857	T	0.112105	0.65570	D	-0.0767455	0.65141	T	0.973303735256195	0.70042	D	0.865313	0.56401	D	0.8648069	0.88455	0.70415854	0.82562	0.8648069	0.88456	0.70415854	0.82563	-8.324	0.63257	D	.	.	0.235	0.47665	B	.;.;.	.;.;.	4.521644	0.70897	25.6	0.99883026826557142	0.95892	0.96767	0.70829	D	AEFDBI	0.842534	0.75964	D	0.59920202224022	0.73126	5.915265	0.508282067301402	0.68548	5.235059	0.999999995011097	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	5.981000	0.70207	5.860000	0.50423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:1.0:0.0:0.0	18.024	0.89186	799	0.44747	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1941.98	33	chr12	108887506	.	C	T	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.003e+00;DP=915;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.368;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1410	20	0	1	0
chr12	115983465	115983465	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon21:c.C4607T:p.A1536V,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	1224083	not_provided|MED13L-related_disorder|Transposition_of_the_great_arteries,_dextro-looped	MedGen:C3661900|.|MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.173	N	0.504	D	0	N	-0.85	T	-0.794	T	0.180	T	0.306	3.121	16.43	6.17	2.941	3.472	9.708	0.185	.	.	0.00339457	0.0023	0	8.645e-05	0	0	0	0.0033	0.0164	0.0019081	295	154602	rs527644823	0.0010	0.0010	0.0005	0.0016	0.0167	0.0010	0.0010	0.0160	0.0157	0	4.472e-05	0	2.519e-05	0	0.0005	7.194e-06	0.0012	0.0167	0.0005	0.0005	0.0003	0.0008	0.0170	0.0004	0.0004	0.0140	0.0129	2.405e-05	0	0	0	0	0	0	0	0	0.0170	0.068	0.35726	T	0.015	0.61642	D	0.001	0.07471	B	0.002	0.06944	B	0.172643	0.17330	N	0.613480	0.503785	0.31763	D	0.805	0.20218	L	-0.85	0.74371	T	-0.85	0.23156	N	0.132	0.12770	-0.7940	0.55496	T	0.180	0.52705	T	10	0.005584836	0.00123	T	.	.	.	0.185	0.45933	.	.	0.382275360157	0.37844	0.38259039107341714	0.38174	0.603781052324	0.55342	0.391021996737	0.23813	T	0.026108	0.19387	T	-0.367278	0.03734	T	-0.287372	0.46044	T	0.031336040538738	0.02199	T	0.760924	0.38541	T	0.05048582	0.09128	0.057174284	0.10345	0.050798588	0.09234	0.050281417	0.07861	-4.555	0.31601	T	0.2609314874784989	0.35231	0.084	0.10497	B	.;.	.;.	3.505792	0.49069	22.7	0.99616564354639137	0.75172	0.92069	0.54876	D	AEFDGBHCI	0.400146	0.47514	N	-0.132378741849924	0.35988	2.074192	0.118926005310028	0.45518	2.813488	0.999999765363425	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.697927	0.64325	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	2.545000	0.45429	8.516000	0.77406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0749:0.1829:0.7422:0.0	9.708	0.39395	980	0.04108	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1377.98	35	chr12	115983465	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=835;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.401e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr13	20189095	20189095	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A487G:p.M163V,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1517	5	0	0	5	0.00164528	.	.	34240	Nonsyndromic_genetic_hearing_loss|not_provided|Hearing_impairment|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MedGen:CN169374|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.91	P	0.493	P	0.000	D	1.000	A	1.065	L	-3.46	D	0.757	D	0.753	D	0.95	3.688	18.74	5.47	2.199	7.948	15.850	0.869	0.136638597594	.	0.000399361	0.0002	0	8.669e-05	0	0	0.0001	0	0.0006	0.0001423	22	154602	rs80338949	9.098e-05	9.098e-05	6.262e-05	0.0001	0.0010	7.824e-05	7.305e-05	0.0007	0.0007	2.987e-05	0	3.826e-05	2.519e-05	0	0.0010	3.058e-05	0.0002	0.0009	0.0001	0.0001	8.994e-05	0.0001	0.0004	7.086e-05	5.744e-05	7.293e-05	3.03e-05	0	0.0077	6.538e-05	0	0	0	0.0034	8.819e-05	0	0.0004	0.228	0.18434	T	0.168	0.30631	T	0.91	0.50240	P	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	A	1.21	0.30464	L	-3.46	0.94508	D	-2.16	0.48850	N	0.931	0.93605	0.757	0.93876	D	0.753	0.91584	D	9	0.22010407	0.38698	T	0.136639	0.81913	D	0.869	0.96059	.	.	0.90055262458	0.89956	0.888205943506865	0.88789	0.0819803898389	0.09232	0.548286676407	0.45616	T	0.698456	0.91296	D	0.169962	0.71120	D	0.382208	0.91508	D	0.222906827926636	0.21608	T	0.890911	0.62511	D	0.6709068	0.76481	0.58499855	0.75935	0.71046257	0.78634	0.63297105	0.78583	-4.344	0.28789	T	0.2314200946753116	0.31317	0.367	0.57665	A	.;.;.	.;.;.	3.774401	0.54236	23.5	0.99279528565013442	0.57869	0.97246	0.73556	D	AEFBCI	0.961360	0.98255	D	0.495358156547513	0.66819	4.999655	0.569371384536678	0.72757	5.86017	0.999999999999769	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	6.201000	0.72052	3.537000	0.38984	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.850	0.78700	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2339.98	39	chr13	20189095	.	T	C	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.193e+00;DP=998;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-3.830e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1543	20	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1428	89	5	0	99	0.0335025	.	.	53921	Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Ichthyosis,_hystrix-like,_with_hearing_loss|Nonsyndromic_genetic_hearing_loss|not_specified|Mutilating_keratoderma|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|not_provided|Hearing_loss,_autosomal_recessive	MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.007	B	0.003	N	0.816	D	0.035	N	-3.69	D	-0.190	T	0.500	T	0.231	-1.133	0.116	5.47	2.723	0.584	9.616	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2607.98	39	chr13	20189125	.	C	T	2607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=1069;ExcessHet=0.0000;FS=4.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.473e+00;SOR=0.496	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1543	20	0	1	0
chr13	23330562	23330562	G	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.C12873G:p.F4291L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.988	D	0.755	P	0.000	D	0.997	D	1.39	L	-2.14	D	0.313	D	0.626	D	0.551	3.013	16.05	3.81	1.478	3.362	13.737	0.584	0.122549990632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.26965	T	0.0	0.92824	D	0.988	0.62325	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	0.996713	0.43371	D	2.4	0.69460	M	-2.29	0.87591	D	-1.26	0.35792	N	0.509	0.54234	0.313	0.87756	D	0.626	0.86850	D	10	0.4649511	0.59513	T	0.12255	0.80355	D	0.584	0.83305	0.376	0.38994	0.854021575142	0.85261	0.5727416198917414	0.57202	.	.	0.84032189846	0.88144	D	0.325589	0.69629	T	0.0961424	0.63873	D	-0.0996746	0.63423	T	0.921945631504059	0.58184	D	0.941006	0.77964	D	0.2207845	0.44642	0.1759384	0.40094	0.2207845	0.44642	0.1759384	0.40093	-3.154	0.11927	T	0.632975275961714	0.70262	0.957	0.87695	P	.;.	.;.	3.709631	0.52947	23.3	0.99706653019664193	0.81005	0.91203	0.53062	D	AEFDBCI	0.510993	0.53981	D	0.319041308045928	0.57125	3.878884	0.293798544965128	0.55176	3.680972	0.999999327388643	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.85	3.81	0.43020	3.449000	0.52713	2.994000	0.35893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.1454:0.0:0.8546:0.0	13.737	0.62306	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3368.98	34	chr13	23330562	.	G	C	3368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.743;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-8.100e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	20	0	1	0
chr13	23355239	23355239	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon6:c.C932T:p.T311I	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	266622	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.56	M	2.17	T	-0.853	T	0.174	T	0.993	3.394	17.45	5.72	2.857	9.798	20.241	0.546	0.100253231566	0.0024	0.000798722	0.0025	0.0005	0.0010	0	0.0005	0.0042	0.0011	0.0004	0.0023609	365	154602	rs61729954	0.0021	0.0021	0.0021	0.0022	0.0101	0.0021	0.0020	0.0080	0.0072	0.0004	0.0019	0.0222	5.038e-05	0.0004	0.0101	0.0019	0.0037	0.0007	0.0021	0.0021	0.0024	0.0019	0.0027	0.0020	0.0019	0.0023	0.0022	0.0003	0	0.0027	0.0199	0	0.0011	0.0102	0.0027	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.62325	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.195	0.89043	M	2.17	0.19020	T	-3.44	0.67477	D	0.975	0.98563	-0.8532	0.51746	T	0.174	0.51722	T	10	0.009782344	0.00220	T	0.100253	0.77242	D	0.546	0.81135	.	.	0.619226046999	0.61614	0.9100570222732436	0.90979	.	.	0.656941413879	0.60972	T	0.644944	0.89155	D	-0.0457148	0.45097	T	0.157254	0.80638	D	0.0686978647633756	0.08468	T	0.927907	0.73422	D	0.596426	0.72498	0.5639624	0.74766	0.60294896	0.72850	0.54210186	0.73535	-9.713	0.72176	D	0.6874368651722385	0.76469	0.901	0.84294	P	.;.;.	.;.;.	4.070486	0.60473	24.2	0.99751892430377787	0.84305	0.98167	0.80181	D	AEFBCI	0.865809	0.78504	D	0.708044794657615	0.80161	7.233117	0.593632970121347	0.74479	6.144526	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.902000	0.98627	11.863000	0.98373	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.0:1.0:0.0	20.241	0.98374	986	0.02773	.;.;.	.	.	.	.	.	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	0	0	1	0	0.02381	2225.98	33	chr13	23355239	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=1100;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.290e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr13	32319134	32319134	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon3:c.A125G:p.Y42C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1513	6	0	0	6	0.00197889	.	.	46290	Fanconi_anemia_complementation_group_D1|not_provided|not_specified|Hereditary_breast_ovarian_cancer_syndrome|Breast_and/or_ovarian_cancer|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN221562|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.11	T	0.09	B	0.028	B	0.001	D	0.794	D	1.15	L	5.01	T	-0.761	T	0.000	T	0.341	0.088	4.474	0.279	-0.089	0.777	5.119	0.089	0.0876667864048	0.0025	0.000798722	0.0017	0.0002	0.0007	0.0001	0.0018	0.0023	0.0022	0.0017	0.0016494	255	154602	rs4987046	0.0021	0.0021	0.0021	0.0021	0.0024	0.0021	0.0020	0.0022	0.0022	0.0001	0.0012	0.0020	5.04e-05	0.0025	0.0007	0.0023	0.0022	0.0024	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0005	0.0029	0	0.0016	0	0.0025	0.0009	0.0010	0.113	0.28772	T	0.107	0.37730	T	.	.	.	.	.	.	0.000515	0.43753	D	0.102378	0.794441	0.34429	D	.	.	.	5.01	0.01308	T	-1.32	0.32991	N	0.307	0.34659	-0.7612	0.57340	T	0.000	0.00039	T	10	0.009805024	0.00220	T	0.087667	0.74982	D	0.089	0.25827	.	.	0.780001080236	0.77797	0.39563112003706724	0.39478	0.0225267285624	0.02270	0.338256061077	0.16177	T	.	.	.	-0.520209	0.00439	T	-0.525878	0.19700	T	0.00183064800998949	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.01348	B	.;.	.;.	0.108942	0.05089	1.624	0.48808984944735467	0.04104	0.76149	0.37326	D	AEBI	0.153756	0.27867	N	-0.980824216039329	0.09013	0.4248764	-0.934800001231078	0.11276	0.5734814	0.999641375194332	0.41316	0.651	0.46895	0	0.601575	0.49859	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.69	0.279	0.14929	0.845000	0.27321	-0.059000	0.12448	-0.768000	0.03469	0.997000	0.40164	0.001000	0.17328	0.143000	0.20056	0.6463:0.0:0.126:0.2277	5.119	0.14184	850	0.35610	.;.	.	.	.	.	.	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	1292.98	33	chr13	32319134	.	A	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-2.100e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	20	0	1	0
chr13	32338481	32338481	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4126C:p.G1376R,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.986	D	0.741	P	0.440	N	1.000	N	1.87	L	5.53	T	-0.869	T	0.010	T	0.658	2.492	14.29	5.75	2.711	2.969	18.115	0.144	0.0644826263119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	3.42e-05	1.366e-06	1.381e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.118	0.36233	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	0.99995	0.19072	N	.	.	.	5.53	0.00894	T	-4.25	0.76094	D	0.37	0.43029	-0.8687	0.50627	T	0.010	0.03582	T	10	0.2966704	0.47231	T	0.064483	0.69290	D	0.144	0.38394	0.182	0.09004	0.913535812815	0.91266	0.25729930238969034	0.25643	0.0490563418063	0.05365	0.241285592318	0.02907	T	.	.	.	-0.0534321	0.43926	T	-0.314528	0.43171	T	0.917296528816223	0.57507	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.38605	B	.;.	.;.	2.291920	0.29320	18.08	0.99600381122847492	0.74160	0.64343	0.32376	D	AEFDBIJ	0.233910	0.35676	N	0.249152421986363	0.53596	3.52787	0.177354938143792	0.48609	3.074516	0.999999999965797	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	3.055000	0.49608	4.485000	0.43549	0.656000	0.54149	0.178000	0.24038	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.115	0.89476	748	0.52143	.;.	.	.	.	.	.	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	0.04167	149.63	86	chr13	32338481	.	G	C	149.63	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.791e+00;DP=1742;ExcessHet=0.0000;FS=195.941;InbreedingCoeff=-0.1671;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=3.30;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:28:.:.:0,28,2076	11	0	1	9
chr13	32338482	32338482	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4127C:p.G1376A,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.368	B	0.440	N	1.000	N	1.87	L	5.56	T	-0.966	T	0.003	T	0.55	1.592	11.28	-2.54	-0.396	0.309	6.770	0.177	0.0438134422846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.278e-05	0.0006	2.473e-05	2.082e-05	2.9e-05	1.625e-05	1.429e-05	2.099e-05	1.796e-05	0	0	0	0	0	0	2.9e-05	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.773	0.04431	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	1	0.08975	N	.	.	.	5.56	0.00864	T	-3.39	0.66896	D	0.271	0.38335	-0.9655	0.38112	T	0.003	0.00994	T	10	0.16124925	0.30251	T	0.043813	0.61176	D	0.177	0.44549	0.187	0.09646	0.848475197848	0.84702	0.1506746443554609	0.14989	0.0782521929742	0.08805	0.22298027575	0.01489	T	.	.	.	-0.136464	0.30456	T	-0.433797	0.29504	T	0.382245836690281	0.28269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.	.;.	1.061239	0.14430	11.00	0.95707531796490708	0.27610	0.24489	0.22409	N	AEFDBIJ	0.098221	0.19796	N	-0.588099796812623	0.19305	1.009324	-0.714807599775176	0.16593	0.8784747	0.999355546631917	0.39259	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	-2.54	0.05941	0.337000	0.19582	0.799000	0.21641	0.656000	0.54149	0.043000	0.21118	0.973000	0.29867	0.993000	0.69303	0.4902:0.0:0.3938:0.1159	6.770	0.22773	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	0	0	0.02381	144.98	109	chr13	32338482	.	G	C	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.256e+00;DP=1956;ExcessHet=0.0000;FS=79.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-2.030e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:101:99:.:.:0,120,1800	20	0	1	0
chr13	32338613	32338613	G	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4258T:p.D1420Y,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1490	27	2	0	31	0.0102956	.	.	49988	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0	D	0.03	B	0.011	B	0.594	N	1.000	N	2.08	M	5.71	T	-0.910	T	0.003	T	0.625	1.506	10.99	1.06	0.126	0.274	2.252	0.152	.	0.0040	0.00399361	0.0068	0.0010	0.0013	0.0001	0.0183	0.0080	0.0045	0.0081	0.00652	1008	154602	rs28897727	0.0065	0.0065	0.0063	0.0067	0.0082	0.0064	0.0063	0.0077	0.0075	0.0011	0.0021	0.0012	5.089e-05	0.0173	0.0053	0.0066	0.0049	0.0082	0.0060	0.0060	0.0052	0.0068	0.0078	0.0057	0.0055	0.0072	0.0070	0.0015	0	0.0022	0.0012	0.0004	0.0225	0.0034	0.0078	0.0052	0.0070	0.03	0.45393	D	0.007	0.69154	D	.	.	.	.	.	.	0.593777	0.11024	N	0.823186	1	0.08975	N	.	.	.	5.71	0.00734	T	-6.6	0.92042	D	0.348	0.42931	-0.9105	0.46793	T	0.003	0.00800	T	10	0.0073898137	0.00168	T	.	.	.	0.152	0.39956	.	.	0.806314087725	0.80449	0.2672400750984085	0.26637	0.0240461599335	0.02442	0.280369341373	0.07543	T	.	.	.	-0.435259	0.01379	T	-0.390034	0.34547	T	0.0118407043112633	0.00184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	1.376317	0.17874	13.42	0.98833556565814296	0.47002	0.49798	0.28516	N	AEFDBI	0.072261	0.14414	N	-0.566739773436893	0.19962	1.048817	-0.580804229601725	0.19994	1.075233	0.998752000881226	0.37602	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	1.06	0.19341	0.305000	0.19006	2.200000	0.31279	0.656000	0.54149	0.698000	0.28607	1.000000	0.68203	0.279000	0.23992	0.2596:0.1191:0.4981:0.1231	2.252	0.03798	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	911.98	109	chr13	32338613	.	G	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.121e+00;DP=1957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=0.619;SOR=0.681	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	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
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H,	Fraser syndrome, Autosomal recessive	YES	2	1496	24	0	0	24	0.00795756	.	.	334576	FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided|not_specified|Congenital_diaphragmatic_hernia	.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.527	P	0.085	B	0.000	D	1.000	D	1.275	L	0.57	T	-0.999	T	0.122	T	0.741	3.091	16.32	5.81	2.746	7.985	17.017	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.04762	2860.11	37	chr13	38691375	.	G	A	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.21;DP=1330;ExcessHet=0.1072;FS=3.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,117,1755	19	0	2	0
chr13	48381322	48381322	C	G	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon17:c.C1574G:p.A525G,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	YES	12	1508	2	0	0	2	0.000662691	.	.	138857	Hereditary_cancer-predisposing_syndrome|not_specified|Retinoblastoma|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	2.66	M	-2.45	D	0.542	D	0.712	D	0.483	4.152	21.5	5.17	2.379	7.484	18.647	0.764	.	0.0065	0.0061901	0.0020	0.0206	0.0020	0	0	4.787e-05	0.0023	6.299e-05	0.0017723	274	154602	rs4151539	0.0006	0.0006	0.0007	0.0006	0.0204	0.0006	0.0006	0.0191	0.0186	0.0204	0.0016	0	0	1.873e-05	0.0012	6.03e-05	0.0012	3.498e-05	0.0058	0.0058	0.0063	0.0052	0.0202	0.0054	0.0053	0.0190	0.0186	0.0202	0	0.0018	0	0	0	0	5.885e-05	0.0043	0	0.099	0.30656	T	0.028	0.54934	D	0.997	0.70673	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-2.45	0.88847	D	-2.53	0.54864	D	0.898	0.89800	0.542	0.91134	D	0.712	0.90104	D	10	0.011211336	0.00246	T	.	.	.	0.764	0.92004	.	.	0.800405226504	0.79854	0.5062571587001278	0.50547	0.898526649263	0.70557	0.634139716625	0.57732	T	0.90212	0.98088	D	-0.184341	0.23093	T	-0.0219741	0.68899	D	0.0252928780566929	0.01311	T	0.935406	0.75832	D	0.7355265	0.80037	0.52179956	0.72372	0.7200427	0.79165	0.50820416	0.71578	-10.319	0.75799	D	0.4813072409266307	0.55991	0.219	0.49616	B	.;.	.;.	5.071974	0.84603	28.4	0.99754122190569616	0.84537	0.98323	0.81627	D	AEFBI	0.902857	0.85124	D	0.851995402694053	0.89221	9.883605	0.806061046656115	0.90211	10.30547	0.999999999673408	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	7.565000	0.81337	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.647	0.91372	880	0.29376	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	588.98	40	chr13	48381322	.	C	G	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=755;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.270e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr13	51942395	51942395	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon11:c.G2782A:p.A928T	Wilson disease, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	527795	not_provided|Wilson_disease	MedGen:C3661900|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.031	B	0.05	B	0.082	N	1.000	N	0	N	-3.83	D	0.156	D	0.605	D	0.081	0.297	5.611	-6.84	-1.514	-3.155	6.930	0.167	.	0.0003	0.00199681	0.0052	0	0	0	0.0534	0.0038	0.0178	6.056e-05	0.0040491	626	154602	rs187200982	0.0025	0.0025	0.0025	0.0025	0.0005	0.0024	0.0024	0.0005	0.0004	2.987e-05	0	3.826e-05	0.0002	0.0548	0.0002	0.0005	0.0029	0.0003	0.0047	0.0047	0.0027	0.0067	0.0014	0.0044	0.0043	0.0012	0.0011	2.407e-05	0	6.54e-05	0	0.0002	0.0573	0	0.0014	0.0024	0.0002	0.603	0.05790	T	0.602	0.07894	T	0.0	0.20130	B	0.001	0.25278	B	0.082095	0.02365	N	1.843910	1	0.08975	N	0.135	0.08676	N	-3.89	0.97242	D	0.19	0.10833	N	0.115	0.10911	0.156	0.85159	D	0.605	0.85979	D	10	0.0021025836	0.00030	T	.	.	.	0.167	0.42761	.	.	0.654553869521	0.65167	0.47490297824234395	0.47409	0.0575941359263	0.06381	0.227259367704	0.01772	T	0.518598	0.83122	D	-0.413832	0.01875	T	-0.365851	0.37374	T	0.0128227865966227	0.00218	T	0.446455	0.16784	T	0.025658986	0.01529	0.04060221	0.04426	0.021958072	0.00827	0.031772524	0.01813	-3.753	0.20104	T	0.07758475157762715	0.03649	0.066	0.02257	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.458612	0.00321	0.005	0.52879314227800156	0.04832	0.00604	0.02691	N	AEFDBI	0.040556	0.06048	N	-1.65924043187841	0.00997	0.04320475	-1.72038946912443	0.01050	0.04712847	0.998683987135627	0.37455	0.615465	0.37627	0	0.563428	0.19063	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	5.15	-6.84	0.01527	-2.972000	0.00732	-20.000000	0.00162	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.097:0.1281:0.1048:0.6702	6.930	0.23617	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	rs187200982	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	35	chr13	51942395	.	C	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.976e+00;DP=826;ExcessHet=0.0000;FS=8.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=2.15;SOR=0.263	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr13	110176691	110176691	C	T	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon35:c.G2903A:p.R968Q,	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	YES	0	1516	5	1	0	7	0.00230339	.	.	194108	Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|not_provided	MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.449	B	0.364	B	0.019	N	1.000	N	0.385	N	-3.23	D	-0.345	T	0.580	D	0.174	1.118	9.558	4.34	0.891	-0.336	4.237	0.244	0.0738064646741	7.7e-05	.	0.0001	9.632e-05	0.0002	0	0	0.0001	0	0.0002	0.0001229	19	154602	rs146288748	8.961e-05	8.961e-05	8.712e-05	9.213e-05	0.0005	7.689e-05	7.233e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0005	8.993e-05	6.623e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0003	4.956e-05	3.962e-05	8.876e-05	5.385e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.298	0.14595	T	0.655	0.06621	T	0.449	0.36046	B	0.364	0.43306	B	0.019126	0.27326	N	0.324291	0.999999	0.08975	N	0.86	0.21358	L	-3.23	0.93414	D	-0.62	0.18248	N	0.133	0.12913	-0.3453	0.73690	T	0.580	0.84880	D	10	0.16859084	0.31420	T	0.073806	0.71881	D	0.244	0.55061	.	.	0.620479444693	0.61740	0.6471600835659421	0.64651	0.506950961396	0.48887	0.288857698441	0.08756	T	0.393646	0.75300	T	-0.218638	0.18180	T	-0.255642	0.49258	T	0.040763618011765	0.03829	T	0.867913	0.56927	D	0.030958865	0.02851	0.049348976	0.07522	0.030958865	0.02851	0.049348976	0.07521	-3.626	0.18233	T	0.106254873563726	0.08520	0.071	0.03811	B	.	.	2.099930	0.26715	17.21	0.99299258518667199	0.58577	0.10989	0.16331	N	AEFBI	0.113444	0.22384	N	-0.361905948180846	0.26837	1.467763	-0.277309895507322	0.28846	1.611607	0.959937017326273	0.28457	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	6.06	4.34	0.51267	-0.349000	0.07779	1.748000	0.28453	0.599000	0.40250	0.000000	0.06391	0.933000	0.28592	0.655000	0.32830	0.13:0.6092:0.1257:0.1351	4.237	0.10082	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1624.98	34	chr13	110176691	.	C	T	1624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=868;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.394e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr13	113140972	113140972	G	A	exonic	F10	.	nonsynonymous SNV	F10:NM_000504:exon5:c.G424A:p.E142K	Factor X deficiency, Autosomal recessive	YES	0	1510	11	1	0	13	0.00428619	.	.	27100	not_provided|F10-related_disorder|Abnormal_bleeding|Factor_X_deficiency|not_specified|Hereditary_factor_X_deficiency_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519|MedGen:CN169374|MONDO:MONDO:0009212,MedGen:C0272327,OMIM:227600,Orphanet:328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.992	D	0.566	P	0.008	N	0.000	A	2.795	M	-4.0	D	0.862	D	0.864	D	0.805	0.213	5.148	3.76	2.306	1.597	7.009	0.614	.	0.0021	0.00139776	0.0045	0.0012	0.0004	0	0.0160	0.0055	0.0066	0.0030	0.0042755	661	154602	rs61753266	0.0038	0.0038	0.0037	0.0039	0.0049	0.0037	0.0037	0.0034	0.0033	0.0005	0.0006	0.0052	0	0.0186	0.0049	0.0035	0.0034	0.0034	0.0033	0.0033	0.0031	0.0035	0.0033	0.0031	0.0030	0.0029	0.0028	0.0008	0	0.0010	0.0040	0	0.0188	0	0.0033	0.0019	0.0027	0.764	0.04148	T	0.767	0.04523	T	0.992	0.64738	D	0.565	0.49756	P	0.007962	0.31093	N	0.301259	4.36547e-09	0.08975	A	1.64	0.41913	L	-4.0	0.96339	D	-1.13	0.29525	N	0.457	0.50237	0.862	0.95181	D	0.864	0.95475	D	9	0.058690608	0.06939	T	.	.	.	0.614	0.84932	.	.	0.976480413009	0.97622	0.8535614222426939	0.85318	1.2713391689	0.82275	0.453467160463	0.32417	T	0.314666	0.85865	T	-0.047579	0.44815	T	0.159009	0.80745	D	0.0159830392420818	0.00380	T	0.716128	0.48957	T	0.53725857	0.69242	0.30863124	0.56881	0.5864146	0.71958	0.29364866	0.55393	-11.707	0.83395	D	0.47584131735732704	0.55543	0.252	0.48695	B	.;.;.	.;.;.	2.810952	0.37005	20.4	0.96024663063007809	0.28486	0.06416	0.12420	N	AEFDGBI	0.696679	0.65494	D	-0.0212999599189677	0.40893	2.436366	-0.167580244728662	0.32736	1.865	0.999968585621971	0.48965	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.68	3.76	0.42368	0.474000	0.21858	9.392000	0.80586	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.089:0.0:0.7381:0.1728	7.009	0.24030	923	0.18507	EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	947.98	33	chr13	113140972	.	G	A	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=813;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.600;SOR=0.540	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1351	20	0	1	0
chr13	113735278	113735278	C	T	exonic	GRK1	.	nonsynonymous SNV	GRK1:NM_002929:exon7:c.C1607T:p.S536L,	Oguchi disease-2	YES	0	1513	4	0	5	9	0.00132013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.098	B	0.026	B	.	.	1.000	N	.	.	-0.18	T	-1.016	T	0.137	T	0.166	-0.375	2.236	2.97	0.380	0.611	9.768	0.062	0.0148089832796	.	.	0.0016	0	0	0	0	0.0006	0	0.0030	0.0001811	28	154602	rs553969577	0.0003	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0.0001	0.0002	0.0022	8.398e-05	0	0.0012	4.361e-05	0.0003	0.0026	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0014	0.0011	0.0001	0	0.0003	0.0012	0	0	0	5.886e-05	0.0009	0.0025	0.473	0.08408	T	0.148	0.32675	T	0.098	0.25584	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.48	0.36189	N	0.106	0.09066	-1.0155	0.25175	T	0.137	0.45337	T	8	0.0070494115	0.00160	T	0.014809	0.35167	T	0.062	0.17934	0.4	0.42917	0.574978667741	0.57166	0.2707733369527284	0.26990	0.0753896777869	0.08455	0.478614598513	0.35866	T	0.130905	0.46009	T	-0.495858	0.00603	T	-0.489657	0.23427	T	0.00648683678961653	0.00072	T	0.333267	0.07048	T	0.03941277	0.05437	0.062399585	0.12202	0.03941277	0.05436	0.062399585	0.12201	-5.737	0.44022	T	.	.	0.087	0.11366	B	.	.	1.323011	0.17275	13.06	0.62834844439848547	0.07065	0.21496	0.21422	N	AEFDBI	0.080822	0.16347	N	-1.01515460114956	0.08288	0.3881165	-1.03685691964651	0.08982	0.4444589	0.898845896664072	0.26036	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.79	2.97	0.33479	0.751000	0.26013	1.535000	0.27187	-0.247000	0.07223	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3754:0.6246:0.0:0.0	9.768	0.39737	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	33	chr13	113735278	.	C	T	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.935;DP=868;ExcessHet=0.0000;FS=0.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.19;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr14	58646513	58646513	G	T	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.G1779T:p.K593N	.	YES	8	1512	2	0	0	2	0.000660939	.	.	2417704	Townes-Brocks_syndrome_2	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.42	T	0.787	P	0.447	P	0.001	D	1.000	N	1.39	L	0.81	T	-0.998	T	0.110	T	0.102	1.085	9.428	0.88	0.249	1.427	11.258	0.086	0.233038007096	0.0004	.	0.0006	0.0003	0	0	0.0031	0.0008	0	0.0002	0.0002652	41	154602	rs201251394	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0006	0	0	0.0005	0.0009	0.0010	0.0006	0.0001	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0004	0.0010	0.0009	0.0002	0	0.0015	0	0	0.0002	0.0136	0.0007	0.0005	0	0.016	0.57480	D	0.071	0.43531	T	0.787	0.44504	P	0.447	0.46003	P	0.000521	0.43581	D	0.194731	1	0.08975	N	2.535	0.73915	M	0.81	0.48460	T	-1.88	0.43906	N	0.12	0.16308	-0.9975	0.30618	T	0.110	0.39533	T	10	0.024522454	0.00677	T	0.233038	0.88348	D	0.086	0.25016	0.157	0.06070	0.418638904736	0.41481	0.18788239580635646	0.18706	0.526887597323	0.50308	0.575884640217	0.49507	T	0.034019	0.37431	T	-0.475553	0.00786	T	-0.543822	0.17924	T	0.0527059097581947	0.05968	T	0.773923	0.40554	T	0.11667866	0.27518	0.09860115	0.23514	0.11667866	0.27518	0.09860115	0.23514	-5.723	0.43897	T	.	.	0.891	0.82175	P	.;.;.;.	.;.;.;.	2.507937	0.32389	19.03	0.98646569094332148	0.44123	0.66567	0.33123	D	AEFDBHCI	0.150968	0.27535	N	-0.455302831701151	0.23561	1.266097	-0.517379046468348	0.21681	1.174035	0.99999999154708	0.74766	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	5.32	0.88	0.18296	1.673000	0.37150	2.248000	0.31665	-0.135000	0.12811	0.997000	0.40164	0.996000	0.32793	0.098000	0.18187	0.3568:0.0:0.6431:0.0	11.258	0.48295	471	0.78036	.;.;.;.	.	.	.	.	.	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	0	0	0.02381	1199.98	64	chr14	58646513	.	G	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e-01;DP=1323;ExcessHet=0.0000;FS=3.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.262;SOR=0.362	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y	.	YES	453	1050	15	4	0	23	0.0108337	.	.	714184	not_provided|Enchondromatosis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.592	P	0.285	B	0.897	N	0.999	D	0.805	L	0.72	T	-1.042	T	0.088	T	0.513	2.656	14.84	5.41	2.699	4.941	12.867	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	907.98	40	chr14	61738101	.	G	T	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.440e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.420e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1324	20	0	1	0
chr14	75764730	75764730	C	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon19:c.C1666G:p.R556G,	Cone-rod dystrophy 19, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	841794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.852	P	0.473	N	1.000	N	1.355	L	3.64	T	-0.984	T	0.127	T	0.511	3.468	17.76	3.22	1.196	1.656	13.854	0.106	0.0348284695871	.	.	8.248e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs770811029	1.847e-05	1.847e-05	6.807e-06	3.025e-05	0.0003	1.265e-05	1.084e-05	7.997e-05	6.236e-05	0	0	0	0	0	0.0003	1.169e-05	0	0.0001	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.026	0.63918	D	0.834	0.60733	P	0.438	0.60758	B	0.473440	0.12250	N	0.754917	1	0.81001	D	1.65	0.42232	L	3.58	0.32958	T	-2.53	0.60348	D	0.539	0.58713	-0.9837	0.34140	T	0.127	0.43318	T	10	0.29858518	0.47414	T	0.034828	0.55938	D	0.106	0.30130	0.328	0.31196	0.171388866994	0.16791	0.25798782657078684	0.25712	0.352308218396	0.37068	0.542880892754	0.44852	T	0.203749	0.56231	T	-0.249213	0.14195	T	-0.321454	0.42415	T	0.409095863189939	0.29284	T	0.889111	0.64631	D	0.25382072	0.48407	0.39753157	0.64365	0.25382072	0.48406	0.39753157	0.64365	-2.594	0.45110	T	0.23661305429944016	0.32040	0.381	0.58464	A	.;.;.;.	.;.;.;.	3.721703	0.53189	23.3	0.99825766202352806	0.90852	0.80901	0.40423	D	AEFDGBI	0.241742	0.36331	N	0.27821648190313	0.55046	3.668994	0.286711539582891	0.54763	3.640351	0.0289744459540654	0.13861	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	3.22	0.36041	1.695000	0.37381	3.458000	0.38494	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2891:0.7109:0.0:0.0	13.854	0.63013	840	0.37365	.;.;.;.	.	.	.	.	.	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	697.98	38	chr14	75764730	.	C	G	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=774;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=1.78;SOR=0.570	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr14	87934749	87934749	C	T	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon16:c.G1972A:p.V658M	Krabbe disease, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	204567	Galactosylceramide_beta-galactosidase_deficiency|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.976	D	0.001	D	1.000	D	2.72	M	-3.56	D	1.005	D	0.898	D	0.9	3.067	16.24	4.69	2.788	1.761	10.701	0.714	0.305239335284	.	0.000199681	0.0002	0	0.0002	0.0008	0	3.003e-05	0	0.0006	0.0001358	21	154602	rs200607029	7.529e-05	7.524e-05	7.083e-05	7.98e-05	0.0007	6.385e-05	5.942e-05	0.0006	0.0005	0	0	7.667e-05	0.0004	0	0	1.979e-05	0.0002	0.0007	7.229e-05	7.219e-05	5.144e-05	9.408e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	5.884e-05	0.0005	0.0008	0.002	0.72154	D	0.004	0.76473	D	0.998	0.73220	D	0.976	0.73562	D	0.000654	0.42656	D	0.218759	0.931983	0.81001	D	2.945	0.84822	M	-3.56	0.94869	D	-1.88	0.43906	N	0.79	0.78641	1.005	0.97279	D	0.898	0.96615	D	10	0.63925993	0.68961	D	0.305239	0.91012	D	0.714	0.89831	0.636	0.77251	0.955291583424	0.95482	0.879927747788902	0.87960	0.58156249449	0.53951	0.380543738604	0.22333	T	0.843247	0.96363	D	0.174935	0.71576	D	0.417908	0.92677	D	0.189370686986006	0.19807	T	0.908709	0.67605	D	0.1294474	0.30233	0.17459469	0.39867	0.123469144	0.28990	0.19273944	0.42803	-6.612	0.53358	T	0.4220926189515186	0.51071	0.251	0.54933	B	.;.;.	.;.;.	4.145771	0.62150	24.4	0.9987529649400313	0.95244	0.65539	0.32771	D	AEFI	0.089598	0.18161	N	0.647091159752438	0.76180	6.439229	0.572622235894489	0.72983	5.896808	0.755474310927353	0.23426	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.6	4.69	0.58546	1.532000	0.35634	2.058000	0.30379	0.599000	0.40250	0.825000	0.30060	0.965000	0.29475	0.451000	0.27917	0.0:0.8488:0.0:0.1512	10.701	0.45123	904	0.23766	.;.;.	.	.	.	.	.	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	1027.98	34	chr14	87934749	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=807;ExcessHet=0.0000;FS=3.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-5.000e-02;SOR=1.083	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1550	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	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	15993	OCA2-related_disorder|not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.946	P	0.621	P	0.000	D	1.000	A	2.675	M	-1.67	D	-0.174	T	0.293	T	0.861	4.808	27.2	5.06	2.343	5.322	17.427	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1248.98	35	chr15	27983407	.	C	T	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=822;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-7.210e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1274	20	0	1	0
chr15	40415454	40415454	C	T	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.C842T:p.A281V	Isovaleric acidemia, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	18607	not_provided|IVD-related_disorder|Inborn_genetic_diseases|Isovaleryl-CoA_dehydrogenase_deficiency	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009475,MedGen:C0268575,OMIM:243500,Orphanet:33	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.973	D	0.846	P	0.000	D	1.000	A	2.16	M	-3.92	D	-0.341	T	0.395	T	0.924	5.472	35	5.38	2.520	7.217	19.134	0.184	0.188327852901	0.0007	0.000399361	0.0007	0.0003	0.0005	0	0	0.0012	0.0011	0	0.0008344	129	154602	rs28940889	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	5.974e-05	0.0004	0	0	0.0004	0.0002	0.0011	0.0006	1.159e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0003	0	0	0.0003	0	0.0014	0.0005	0	0.002	0.72154	D	0.014	0.62352	D	.	.	.	.	.	.	0.000000	0.84330	D	0.047188	1	0.81001	A	.	.	.	-3.92	0.96562	D	-1.7	0.40468	N	0.804	0.81162	-0.3411	0.73812	T	0.395	0.74778	T	9	0.2668892	0.44196	T	0.188328	0.85994	D	0.887	0.96725	.	.	0.964643876972	0.96426	.	.	0.637825220788	0.57520	0.742085814476	0.73279	T	0.665162	0.89998	D	0.175631	0.71641	D	0.480459	0.94208	D	0.135933771729469	0.15920	T	0.985001	0.95079	D	0.77038425	0.82071	0.55279213	0.74139	0.74941295	0.80836	0.6150786	0.77597	-10.796	0.78527	D	.	.	0.341	0.55957	A	.;.;.	.;.;.	5.170184	0.86660	29.0	0.99911849482036308	0.98095	0.96179	0.67897	D	AEFDBCI	0.923752	0.90071	D	0.479759478002188	0.65910	4.882219	0.5441237129867	0.70988	5.587	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.357000	0.78710	7.708000	0.66649	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.134	0.93403	659	0.61982	Acyl-CoA dehydrogenase/oxidase C-terminal;.;Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	34	chr15	40415454	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=796;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-2.048e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	20	0	1	0
chr15	45111501	45111501	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G598A:p.G200R	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	873649	not_provided|Thyroid_dyshormonogenesis_6|Congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.16	B	0.000	D	1.000	D	1.69	L	.	.	-0.879	T	0.208	T	0.245	1.288	10.21	3.2	0.572	1.092	9.93	0.112	0.0870797157534	.	0.00339457	0.0012	0.0036	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467827	0.0013	0.0013	0.0013	0.0013	0.0059	0.0013	0.0012	0.0041	0.0035	0.0017	0.0008	0.0001	0	0.0001	0.0059	0.0014	0.0015	0.0019	0.0014	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	0.156	0.24090	T	0.242	0.24264	T	0.049	0.22227	B	0.16	0.34752	B	0.000016	0.62929	D	0.113958	0.999903	0.50806	D	2.275	0.64647	M	-0.87	0.74583	T	-2.32	0.51478	N	0.332	0.37301	-0.8787	0.49864	T	0.208	0.56744	T	9	0.014877588	0.00312	T	0.08708	0.74864	D	0.112	0.31546	0.649	0.78648	0.612346595452	0.60922	0.4636919790857647	0.46288	0.594377940078	0.54754	0.759534358978	0.75861	T	0.022629	0.48754	T	-0.413907	0.01873	T	-0.373492	0.36481	T	0.019811536912779	0.00683	T	0.735926	0.35246	T	0.18022087	0.39132	0.21244237	0.45714	0.2938596	0.52348	0.22583425	0.47540	-5.963	0.45969	T	0.2094615556041622	0.28042	0.091	0.13315	B	.;.	.;.	1.264082	0.16619	12.66	0.95385010851970486	0.26816	0.56262	0.30072	D	AEFDBHCI	0.197320	0.32425	N	-0.862035055079771	0.11755	0.5690544	-0.827023356808017	0.13841	0.720188	0.999930517080511	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.06	3.2	0.35826	1.131000	0.31019	0.661000	0.20504	-0.996000	0.01829	0.000000	0.06391	0.014000	0.20376	0.029000	0.12982	0.0:0.7691:0.0:0.2309	9.93	0.40686	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1964.11	36	chr15	45111501	.	C	T	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=786;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=-4.732e+00;QD=17.69;ReadPosRankSum=2.22;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1167	19	0	2	0
chr15	48456748	48456748	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon44:c.C5311T:p.R1771W,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	912788	Marfan_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|Stiff_skin_syndrome|Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome|Acromicric_dysplasia|MASS_syndrome|Weill-Marchesani_syndrome_2,_dominant|Geleophysic_dysplasia_2|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.912	D	0.000	D	1.000	D	1.07	L	-3.05	D	0.621	D	0.765	D	0.794	3.760	19.09	5.8	2.735	1.809	13.567	0.646	0.104405308129	.	.	1.654e-05	0	0	0	0.0002	1.504e-05	0	0	1.29e-05	2	154602	rs767884599	1.984e-05	1.984e-05	2.179e-05	1.788e-05	2.988e-05	1.392e-05	1.204e-05	1.378e-05	1.151e-05	2.988e-05	0	0	0	1.876e-05	0	2.069e-05	4.97e-05	1.159e-05	2.633e-05	2.628e-05	2.572e-05	2.697e-05	4.838e-05	8.15e-06	5.15e-06	8.02e-06	3e-06	4.838e-05	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.53900	D	0.017	0.60337	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	.	.	.	-3.05	0.92407	D	-3.69	0.70432	D	0.556	0.58117	0.621	0.92169	D	0.765	0.92016	D	10	0.6586945	0.70025	D	0.104405	0.77897	D	0.646	0.86586	0.514	0.61307	0.863254363944	0.86192	.	.	1.42932621729	0.85777	0.879084587097	0.93836	D	.	.	.	0.261251	0.79646	D	0.152979	0.80373	D	0.95329338312149	0.63993	D	0.976302	0.91743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56806	A	.	.	5.530878	0.91870	32	0.9991342609321564	0.98238	0.93937	0.59625	D	AEFBI	0.809153	0.73274	D	0.563843613362075	0.70929	5.574283	0.599325949044525	0.74891	6.214961	0.999994795415015	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	2.273000	0.43041	5.948000	0.51598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7428:0.2572	13.567	0.61289	386	0.83455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2272.98	43	chr15	48456748	.	G	A	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=898;ExcessHet=0.0000;FS=2.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.620e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	20	0	1	0
chr15	48520811	48520811	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon10:c.G995A:p.R332H,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1472171	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.167	B	0.018	B	0.000	D	1.000	D	1.79	L	-3.16	D	0.317	D	0.745	D	0.428	4.287	22.4	5.65	2.941	5.682	19.914	0.459	0.102967309227	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.066e-05	1.29e-05	2	154602	rs748929044	2.189e-05	2.189e-05	2.586e-05	1.788e-05	8.116e-05	1.584e-05	1.356e-05	3.765e-05	2.662e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	8.116e-05	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.39575	D	0.028	0.54934	D	.	.	.	.	.	.	0.000001	0.62929	D	0.102090	1	0.81001	D	.	.	.	-3.16	0.92996	D	-3.78	0.71519	D	0.435	0.47395	0.317	0.87822	D	0.745	0.91309	D	10	0.43720043	0.57870	T	0.102967	0.77674	D	0.459	0.75687	.	.	0.729498838671	0.72709	.	.	1.50559008858	0.87129	0.691678524017	0.65947	T	.	.	.	0.0803622	0.62083	D	-0.0254877	0.68667	D	0.876788914203644	0.52667	D	0.960504	0.85148	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50609	B	.	.	5.442819	0.90959	32	0.99876483193388688	0.95328	0.96417	0.69036	D	ALL	0.798760	0.72522	D	0.239037407595599	0.53098	3.480389	0.400893849214677	0.61621	4.364747	0.999999999999998	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	5.65	5.65	0.86881	5.937000	0.69877	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.914	0.97044	635	0.64580	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1039.98	36	chr15	48520811	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.473;DP=797;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.584;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	20	0	1	0
chr15	63345541	63345541	C	T	exonic	CA12	.	stopgain	CA12:NM_001293642:exon3:c.G185A:p.W62X	Hyperchlorhidrosis, isolated, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.980	37	5.19	2.441	7.717	17.352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.905	0.90590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.580595	0.99096	42	0.99666080476407826	0.78266	0.94477	0.61292	D	AEFDGBCI	0.282155	0.39556	N	0.875250379985906	0.90496	10.43014	0.744015538159865	0.85711	8.662272	1.0	0.98316	0.675385	0.55134	0	0.59043	0.45803	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.19	5.19	0.71428	7.897000	0.85944	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	17.352	0.87216	674	0.60593	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Pathogenic	1	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	1181.98	33	chr15	63345541	.	C	T	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.068;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	20	0	1	0
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
chr15	68214373	68214373	C	G	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon3:c.G214C:p.E72Q,	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	YES	2	1512	8	0	0	8	0.00263852	.	.	193642	not_specified|Inborn_genetic_diseases|not_provided|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|Neuronal_ceroid_lipofuscinosis	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.099	B	0.066	B	0.000	N	1.000	D	1.67	L	-3.48	D	0.393	D	0.761	D	0.692	3.095	16.34	4.44	1.263	3.735	15.012	0.607	.	0.0012	0.00579073	0.0029	0.0039	0.0005	0	0	0.0002	0.0055	0.0173	0.0025485	394	154602	rs104894483	0.0012	0.0012	0.0008	0.0017	0.0163	0.0012	0.0012	0.0156	0.0153	0.0045	0.0002	0.0003	7.558e-05	0	0.0061	8.276e-05	0.0017	0.0163	0.0016	0.0016	0.0013	0.0019	0.0129	0.0015	0.0014	0.0103	0.0094	0.0041	0	0.0003	0	0	0	0	0.0001	0.0009	0.0129	0.197	0.27426	T	0.059	0.49120	T	0.003	0.11197	B	0.028	0.21332	B	0.000122	0.49741	N	0.172007	0.99281	0.81001	D	1.955	0.52871	M	-3.48	0.94584	D	-1.39	0.35194	N	0.327	0.40063	0.393	0.88985	D	0.761	0.91869	D	10	0.013344973	0.00283	T	.	.	.	0.607	0.84559	.	.	0.945954242979	0.94538	0.779437328201181	0.77894	0.851204937113	0.68538	0.369264423847	0.20726	T	0.704847	0.91532	D	-0.0894408	0.38169	T	0.113028	0.77773	D	0.0370855303537192	0.03170	T	0.90181	0.65830	D	0.07654831	0.17318	0.07454623	0.16320	0.09027843	0.21119	0.07138643	0.15281	-5.557	0.42398	T	0.3812480700580007	0.47564	0.102	0.46285	B	.;.;.;.	.;.;.;.	3.491926	0.48808	22.7	0.99111463123207033	0.52750	0.87751	0.47397	D	AEFGBCI	0.556453	0.56648	D	-0.09129572497973	0.37774	2.20251	0.0476089026384635	0.41957	2.529481	0.99999999476799	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.36	4.44	0.53164	3.882000	0.55873	4.126000	0.42002	0.597000	0.34315	0.999000	0.42656	1.000000	0.68203	0.678000	0.33484	0.0:0.8268:0.1732:0.0	15.012	0.71219	705	0.57330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1128.98	36	chr15	68214373	.	C	G	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.312e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	20	0	1	0
chr15	72345476	72345476	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1496A:p.R499H	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	18938	Gm2-gangliosidosis,_juvenile|Tay-Sachs_disease|not_provided|Inborn_genetic_diseases	MedGen:C0268276|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.52	H	-4.53	D	1.086	D	0.971	D	0.978	5.220	33	5.71	2.709	4.215	19.868	0.892	0.250417958122	.	.	7.415e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs121907956	7.183e-05	7.182e-05	6.534e-05	7.838e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.205e-05	1.656e-05	0.0004	3.284e-05	3.283e-05	6.422e-05	0	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.705	0.94653	H	-4.53	0.97713	D	-4.64	0.79316	D	0.981	0.99670	1.086	0.99097	D	0.971	0.99102	D	9	0.9543921	0.94791	D	0.250418	0.89090	D	0.892	0.96910	.	.	0.994230711063	0.99416	0.9696749151766246	0.96955	0.838673171438	0.67938	0.494319111109	0.38038	T	0.962685	0.99531	D	0.36715	0.87805	D	0.594157	0.96934	D	0.992381036281586	0.82850	D	0.90121	0.65680	D	0.8408219	0.86667	0.6666385	0.80451	0.83979577	0.86595	0.6963891	0.82123	-10.643	0.77665	D	0.8586115139022448	0.92272	0.785	0.76596	P	.;.;.	.;.;.	4.934956	0.81390	27.5	0.99868851275574999	0.94637	0.98812	0.87175	D	AEFBI	0.797319	0.72419	D	0.637878631067833	0.75587	6.332277	0.472149093174774	0.66149	4.914913	0.999999999982387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.557000	0.81197	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.868	0.96822	201	0.92177	.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2873.98	34	chr15	72345476	.	C	T	2873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1316;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.036;SOR=0.565	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr15	72345537	72345537	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1435A:p.A479T	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	1	1514	7	0	0	7	0.00230643	.	.	271317	not_provided|not_specified|Tay-Sachs_disease	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.981	D	0.000	D	1.000	D	4.1	H	-4.49	D	0.899	D	0.966	D	0.824	5.431	35	5.56	2.632	7.454	19.526	0.911	.	0.0005	0.00279553	0.0009	0.0006	8.715e-05	0.0091	0	7.517e-05	0.0011	0.0010	0.0008732	135	154602	rs145012038	0.0004	0.0004	0.0003	0.0005	0.0073	0.0004	0.0004	0.0066	0.0063	0.0001	4.472e-05	0	0.0073	0	0.0009	4.317e-05	0.0018	0.0015	0.0006	0.0006	0.0004	0.0007	0.0093	0.0005	0.0004	0.0072	0.0064	0.0003	0	6.533e-05	0	0.0093	0	0	8.818e-05	0.0028	0.0019	0.001	0.78490	D	0.029	0.54934	D	0.994	0.66517	D	0.909	0.64565	D	0.000003	0.62929	D	0.059591	1	0.81001	D	3.915	0.96218	H	-4.49	0.97628	D	-3.68	0.70314	D	0.75	0.75466	0.899	0.95659	D	0.966	0.98924	D	10	0.015963972	0.00335	T	.	.	.	0.911	0.97624	.	.	0.994792947779	0.99473	0.9593219065512474	0.95918	0.709207124474	0.61595	0.460467576981	0.33375	T	0.977385	0.99791	D	0.136687	0.68008	D	0.43296	0.93132	D	0.162026577394249	0.18020	T	0.975502	0.91380	D	0.7533883	0.81065	0.8311962	0.90262	0.8985642	0.91256	0.80602276	0.88649	-8.323	0.63250	D	0.6591750290042737	0.73240	0.393	0.59171	A	.;.;.	.;.;.	4.671647	0.74675	26.2	0.9993173088697902	0.99387	0.99755	0.99226	D	AEFGBI	0.930107	0.91691	D	1.03032789632224	0.96603	14.90106	0.940688147767042	0.97114	15.61088	0.999999999990603	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	7.557000	0.81197	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.526	0.95201	201	0.92177	Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2224.98	34	chr15	72345537	.	C	T	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=1100;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.871;SOR=0.754	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr15	72735954	72735954	A	T	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon13:c.A720T:p.E240D	Bardet-Biedl syndrome 4, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	255356	Bardet-Biedl_syndrome|not_specified|Bardet-Biedl_syndrome_4|not_provided	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.002	B	0.004	B	0.000	D	0.886	D	0.17	N	-0.17	T	-1.109	T	0.076	T	0.283	0.661	7.544	-1.56	-0.139	-0.680	0.986	0.118	.	0.0010	0.00219649	0.0017	9.612e-05	0.0011	0	0.0002	0.0011	0	0.0071	0.0015977	247	154602	rs147202164	0.0012	0.0012	0.0010	0.0014	0.0080	0.0012	0.0012	0.0068	0.0066	0.0002	0.0011	0.0002	0	0.0003	0.0080	0.0009	0.0014	0.0073	0.0009	0.0009	0.0008	0.0010	0.0081	0.0008	0.0007	0.0061	0.0054	0.0002	0	0.0013	0.0006	0	0.0002	0.0137	0.0008	0.0009	0.0081	0.631	0.05137	T	0.608	0.12316	T	0.0	0.02946	B	0.002	0.06944	B	0.000051	0.53742	D	0.165515	0.851858	0.35848	D	0.94	0.23649	L	-0.17	0.65563	T	-0.26	0.11185	N	0.193	0.21188	-1.1085	0.03201	T	0.076	0.30522	T	10	0.0062256753	0.00140	T	.	.	.	0.118	0.32913	0.536	0.64585	0.467585353272	0.46384	0.12365382285431516	0.12291	0.0123763208072	0.01177	0.421674877405	0.28067	T	0.15607	0.49808	T	-0.453691	0.01074	T	-0.420747	0.30989	T	0.00809032004326582	0.00096	T	0.763624	0.39028	T	0.065803885	0.14100	0.03444925	0.02514	0.067963764	0.14765	0.027452525	0.00899	-4.176	0.32571	T	.	.	0.074	0.05060	B	.;.	.;.	0.535059	0.09040	5.820	0.84337932865170284	0.15233	0.18627	0.20337	N	AEFBI	0.080972	0.16379	N	-0.964398092015882	0.09372	0.4432894	-0.895571225133823	0.12198	0.6260898	0.993373274759456	0.33190	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.68	-1.56	0.08080	-0.645000	0.05506	-0.595000	0.08301	0.756000	0.94297	0.133000	0.23395	0.000000	0.08366	0.917000	0.45243	0.2643:0.2158:0.3251:0.1949	0.986	0.01356	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	839.98	33	chr15	72735954	.	A	T	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=763;ExcessHet=0.0000;FS=1.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-4.690e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1340	20	0	1	0
chr15	89321792	89321792	C	T	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon16:c.G2542A:p.G848S	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	28541	Progressive_sclerosing_poliodystrophy|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Hereditary_spastic_paraplegia|POLG-Related_Spectrum_Disorders|Mitochondrial_DNA_depletion_syndrome|Inborn_genetic_diseases|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_digenic|Mitochondrial_DNA_depletion_syndrome_1|not_provided|POLG-related_disorder|Mitochondrial_disease	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C4763519|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MeSH:D030342,MedGen:C0950123|MedGen:C1868097|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.245	M	-5.3	D	1.065	D	0.979	D	0.987	5.366	34	4.56	1.269	7.417	15.416	0.967	0.5463482847	0.0003	0.000199681	0.0002	0.0002	0.0003	0	0	0.0002	0	0	0.0001746	27	154602	rs113994098	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0001	0.0001	0	0	0	0	0.0004	0.0002	0	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0	0.0005	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047783	1	0.81001	A	3.545	0.93219	H	-5.3	0.98969	D	-5.93	0.89029	D	0.972	0.99670	1.065	0.98463	D	0.979	0.99346	D	9	0.94880635	0.94211	D	0.546348	0.95798	D	0.967	0.99571	.	.	0.984020410405	0.98384	0.9273659732005204	0.92714	0.655678155703	0.58603	0.804255664349	0.82612	D	0.966291	0.99599	D	0.32141	0.84572	D	0.590349	0.96894	D	0.736728595521352	0.42562	D	0.998268	0.99177	D	0.91323406	0.92598	0.7882541	0.87537	0.9256498	0.93804	0.8135046	0.89124	-12.583	0.87574	D	0.7219562996968645	0.80311	0.892	0.82246	P	.;.	.;.	5.218561	0.87585	29.3	0.99866433598043791	0.94457	0.99438	0.96031	D	ALL	0.891302	0.82715	D	0.81051502627148	0.86760	8.989897	0.719217282461928	0.83839	8.128029	0.999999999999994	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.5	4.56	0.55644	7.498000	0.80396	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1402:0.8598:0.0:0.0	15.416	0.74694	946	0.12043	DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	33	chr15	89321792	.	C	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=868;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.514;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	20	0	1	0
chr15	99997468	99997468	A	C	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon19:c.T2713G:p.C905G,	Weill-Marchesani-like syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.997	D	0.000	D	1.000	D	4.45	H	-0.69	T	0.740	D	0.708	D	0.887	3.348	17.27	5.06	1.885	8.313	14.790	0.821	0.256385721283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	-0.69	0.72678	T	-9.13	0.98199	D	0.872	0.86941	0.740	0.93670	D	0.708	0.89973	D	10	0.98335457	0.98468	D	0.256386	0.89328	D	0.821	0.94276	0.862	0.95885	0.968495154321	0.96816	0.7650599550904532	0.76454	0.546196756565	0.51621	0.657229423523	0.61014	T	0.405866	0.76192	T	0.375894	0.88444	D	0.302169	0.88297	D	0.999855518341064	0.99363	D	0.842116	0.51841	T	0.93847024	0.95092	0.9212139	0.96484	0.93847024	0.95092	0.9212139	0.96484	-12.014	0.84920	D	.	.	0.968	0.89183	P	.	.	4.786617	0.77637	26.7	0.98225299100927854	0.39343	0.93837	0.59334	D	AEFDBCI	0.953208	0.96931	D	0.898897908610126	0.91705	11.02127	0.74569077765056	0.85833	8.700672	0.999998713414151	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	8.313000	0.89896	11.160000	0.87621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	1.0:0.0:0.0:0.0	14.790	0.69455	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2051.98	36	chr15	99997468	.	A	C	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.115e+00;DP=840;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.202e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	20	0	1	0
chr16	176927	176927	A	G	splicing	HBA1	NM_000558:exon2:c.96-2A>G	.	.	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	YES	.	.	.	.	.	.	.	0.9999	0.894	3081354	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.925	12.40	3.33	0.636	6.527	9.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1298836193	5.545e-06	1.541e-05	4.555e-06	6.484e-06	0.0003	1.62e-06	1.18e-06	1.48e-06	1e-06	0	0	0	0	0	0.0003	6.317e-06	0	0	1.356e-05	2.643e-05	0	2.786e-05	2.532e-05	2.25e-06	8.4e-07	.	.	2.532e-05	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0205757	0.48770	T	-0.267332	0.48089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.081505	0.94516	34	0.74603171795610534	0.10757	0.96569	0.69797	D	AEFDGBHCI	.	.	.	0.706611257523252	0.80067	7.212597	0.440658059572336	0.64120	4.659919	0.999999812694705	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.056003	0.00319	0	0.058706	0.01089	0	0.804152	0.47649	4.45	3.33	0.37245	6.424000	0.73282	7.903000	0.73657	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.8191:0.1809:0.0:0.0	9.342	0.37247	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	468.98	41	chr16	176927	.	A	G	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.084e+00;DP=565;ExcessHet=0.0000;FS=6.514;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=30.85;MQRankSum=1.50;QD=10.91;ReadPosRankSum=-1.493e+00;SOR=1.156	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,403	20	0	1	0
chr16	2062988	2062988	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon11:c.G778A:p.A260T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	YES	0	1509	13	0	0	13	0.00428901	.	.	58822	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_syndrome|Tuberous_sclerosis_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.997	D	0.001	D	1.000	D	1.1	L	-1.35	T	-0.175	T	0.547	D	0.9	2.976	15.92	5.24	2.438	7.128	18.812	0.563	0.162465087376	0.0008	.	0.0024	0.0004	0	0	0	0.0054	0.0052	0.0001	0.0004786	74	154602	rs137854154	0.0007	0.0007	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0078	3.166e-05	0.0004	0.0149	8.396e-05	0	0.0108	0.0004	0.0017	0.0001	0.0007	0.0007	0.0007	0.0008	0.0005	0.0006	0.0006	0.0004	0.0003	2.405e-05	0	0.0003	0.0161	0.0002	0	0.0442	0.0005	0.0014	0.0002	0.407	0.10245	T	0.587	0.08565	T	1.0	0.90584	D	0.997	0.86255	D	0.000544	0.43413	D	0.207417	0.99969	0.48338	D	1.645	0.42016	L	-1.35	0.80035	T	-0.43	0.19085	N	0.654	0.86085	-0.1755	0.78293	T	0.547	0.83379	D	10	0.009741873	0.00219	T	0.162465	0.84203	D	0.563	0.82118	.	.	0.812524160204	0.81076	0.16594122693251886	0.16514	.	.	0.491957485676	0.37710	T	0.328302	0.69873	T	0.0682677	0.60639	T	0.243502	0.85311	D	0.0603967384181006	0.07231	T	0.874113	0.58433	D	0.07935697	0.18124	0.07210155	0.15515	0.08406206	0.19439	0.07072015	0.15057	-5.549	0.42324	T	0.2994829771627527	0.39674	0.089	0.13127	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.493073	0.70201	25.5	0.99594259389761552	0.73807	0.94236	0.60528	D	AEFBHCI	0.792699	0.72092	D	0.402941493836061	0.61584	4.361499	0.435621694201341	0.63798	4.620965	0.999999999677212	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.292000	0.78084	8.524000	0.77433	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.0:1.0:0.0	18.812	0.92027	726	0.54788	Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	762.98	33	chr16	2062988	.	G	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=777;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-4.230e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr16	2109076	2109076	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G6091A:p.V2031M	Polycystic kidney disease, adult type I, Autosomal dominant	YES	2	1519	1	0	0	1	0.000329056	.	.	985008	Inborn_genetic_diseases|Polycystic_kidney_disease	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.854	P	0.298	B	0.000	D	0.967	N	1.61	L	0.15	T	-0.809	T	0.164	T	0.401	0.896	8.640	5.49	2.597	2.787	12.759	0.129	0.449234191373	.	.	0.0003	0	0	0	0	0	0	0.0020	0.0002135	33	154602	rs765389584	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	1.947e-05	0	1.988e-05	0.0002	0.0024	9.844e-05	9.841e-05	7.706e-05	0.0001	0.0019	6e-05	4.874e-05	0.0010	0.0007	7.214e-05	0	0	0	0	0	0	4.41e-05	0	0.0019	0.287	0.15149	T	0.051	0.47828	T	0.8	0.47077	P	0.298	0.40966	B	0.000226	0.47286	D	0.180303	0.967052	0.25866	N	1.87	0.49600	L	0.15	0.60734	T	-0.28	0.12847	N	0.34	0.39659	-0.8088	0.54623	T	0.164	0.50176	T	10	0.045740277	0.03679	T	0.449234	0.94311	D	0.129	0.35316	0.404	0.43573	0.730922541288	0.72852	0.4800694021578054	0.47926	.	.	0.570616364479	0.48765	T	0.294549	0.66723	T	-0.368727	0.03659	T	-0.308903	0.43776	T	0.0937675096689802	0.11658	T	0.785321	0.42297	T	0.07567366	0.17063	0.06964094	0.14697	0.07567366	0.17063	0.06964094	0.14697	-4.815	0.34823	T	0.20708162621437848	0.27669	0.217	0.44682	B	.;.	.;.	2.617724	0.34010	19.51	0.91222354384019599	0.20479	0.95200	0.63808	D	AEFBI	0.500469	0.53372	D	0.265082471426005	0.54389	3.604568	0.321501633444002	0.56804	3.844483	0.708108518102568	0.22785	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	2.941000	0.48703	3.995000	0.41022	0.584000	0.30380	0.986000	0.36153	0.999000	0.35428	0.295000	0.24381	0.0:0.9248:0.0:0.0752	12.759	0.56730	654	0.62520	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	2052.98	33	chr16	2109076	.	C	T	2052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=913;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=14.06;ReadPosRankSum=1.36;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	2114921	2114921	G	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.C2102A:p.T701N	Polycystic kidney disease, adult type I, Autosomal dominant	YES	215	1282	23	2	0	27	0.0104207	.	.	919631	not_provided|Polycystic_kidney_disease,_adult_type|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.763	P	0.219	B	0.193	N	1.000	N	1.87	L	1.31	T	-1.051	T	0.078	T	0.076	0.319	5.729	3.09	1.181	1.806	9.643	0.052	0.119057797368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0055	0.0010	0.0014	0.0042	0.0012	0.0011	0.0036	0.0034	0.0002	0.0042	0.0022	0.0015	0.0007	0.0015	0.0010	0.0011	0.0035	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.095	0.31235	T	0.107	0.37730	T	0.514	0.43659	P	0.115	0.37734	B	0.192933	0.16798	N	0.604873	1	0.08975	N	2.35	0.67516	M	1.31	0.35405	T	-1.53	0.37178	N	0.226	0.32701	-1.0514	0.14009	T	0.078	0.31103	T	10	0.19567388	0.35429	T	0.119058	0.79926	D	0.052	0.14661	.	.	0.550246613503	0.54680	0.27213226263356766	0.27126	.	.	0.399860799313	0.25050	T	0.286815	0.65960	T	-0.263983	0.12437	T	-0.61697	0.11424	T	0.150881667384249	0.17173	T	0.688631	0.29780	T	0.065850526	0.14113	0.08088498	0.18334	0.065850526	0.14112	0.08088498	0.18334	-5.674	0.43461	T	0.33790161931626944	0.43577	0.105	0.19398	B	.;.	.;.	1.961136	0.24913	16.57	0.50966857304146163	0.04478	0.25707	0.22779	N	AEFBI	0.148006	0.27180	N	-0.571601178771383	0.19811	1.040	-0.661019807721852	0.17938	0.9561094	0.0203117780971335	0.13246	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.21	3.09	0.34677	1.444000	0.34679	6.196000	0.54830	-0.209000	0.08382	0.003000	0.16062	1.000000	0.68203	0.000000	0.00833	0.1485:0.13:0.7214:0.0	9.643	0.39015	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	77.9	36	chr16	2114921	.	G	T	77.9	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e+00;DP=755;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0481;MLEAC=1;MLEAF=0.024;MQ=41.59;MQRankSum=-1.677e+00;QD=0.59;ReadPosRankSum=0.450;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	19	0	2	0
chr16	3256323	3256323	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon1:c.G265A:p.A89T	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	103405	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|Acute_febrile_neutrophilic_dermatosis|not_specified	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.862	P	0.462	N	1.000	N	2.095	M	0.38	T	-0.838	T	0.260	T	0.728	3.683	18.71	4.03	0.861	0.952	7.667	0.327	0.04338119536	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs104895124	9.579e-06	9.577e-06	1.089e-05	8.253e-06	8.963e-05	5.56e-06	4.35e-06	2.985e-05	1.804e-05	8.963e-05	8.946e-05	0	0	0	0	5.396e-06	1.656e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	0.995	0.67487	D	0.862	0.61339	P	0.462479	0.12374	N	0.718553	1	0.08975	N	1.83	0.48079	L	0.38	0.57575	T	-1.99	0.46673	N	0.135	0.13198	-0.8378	0.52793	T	0.260	0.63055	T	10	0.24416816	0.41643	T	0.043381	0.60956	D	0.327	0.64926	0.716	0.85141	0.776258990654	0.77419	0.25332777736357565	0.25246	0.209460660438	0.23414	0.275433540344	0.06864	T	0.332551	0.70250	T	-0.0862495	0.38694	T	-0.1789	0.56625	T	0.119044836646206	0.14336	T	0.853215	0.53849	D	0.12759422	0.29854	0.13456117	0.32240	0.119756326	0.28191	0.13795117	0.32959	-7.669	0.59906	D	.	.	0.121	0.39168	B	.;.;.;.	.;.;.;.	2.592526	0.33630	19.40	0.99839871169604388	0.92057	0.06162	0.12144	N	AEFDGBI	0.119344	0.23296	N	-0.0448386388082951	0.39833	2.355527	-0.228680098778615	0.30512	1.718682	0.999994666492279	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.03	0.46115	0.556000	0.23144	.	.	0.549000	0.26987	0.001000	0.13787	0.829000	0.27196	0.088000	0.17685	0.1625:0.7553:0.0:0.0821	7.667	0.27603	769	0.49307	DAPIN domain;DAPIN 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	786.98	33	chr16	3256323	.	C	T	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.577e+00;DP=756;ExcessHet=0.0000;FS=1.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.139e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	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	0	1	0	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	16	0	5	0
chr16	20341254	20341254	A	G	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon7:c.T1414C:p.Y472H	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.179	B	0.33	B	0.038	N	0.946	N	2.36	M	-1.72	D	-0.151	T	0.571	D	0.27	2.644	14.80	4.22	0.916	4.897	9.917	0.424	0.0476934600087	.	.	8.241e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs770836612	6.156e-06	6.156e-06	1.361e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.041	0.52389	D	0.179	0.28995	B	0.33	0.42079	B	0.038447	0.24284	N	0.298098	0.945839	0.26649	N	1.855	0.49169	L	-1.72	0.83241	D	-4.46	0.77798	D	0.328	0.37509	-0.1515	0.78879	T	0.571	0.84485	D	10	0.33434564	0.50610	T	0.047693	0.63038	D	0.424	0.73226	0.622	0.75690	0.654990179022	0.65211	0.7808967824336024	0.78040	0.20091022214	0.22489	0.45893651247	0.33164	T	.	.	.	-0.151333	0.28104	T	-0.273628	0.47451	T	0.760076880455017	0.43855	D	0.727427	0.34191	T	0.58817655	0.72052	0.38898283	0.63729	0.58817655	0.72053	0.38898283	0.63729	-9.194	0.68937	D	0.6420018679419429	0.71286	0.288	0.60166	B	.;.;.;.	.;.;.;.	3.394880	0.47017	22.4	0.99396951959911706	0.62610	0.91752	0.54188	D	AEFDBI	0.675921	0.64114	D	0.077402454620751	0.45409	2.798004	0.158699517667587	0.47605	2.988222	0.00888125254026803	0.11759	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	4.22	0.49153	3.246000	0.51115	7.881000	0.72509	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.971000	0.54645	0.9172:0.0:0.0828:0.0	9.917	0.40608	845	0.36510	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida 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	1836.98	51	chr16	20341254	.	A	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=1051;ExcessHet=0.0000;FS=3.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.360e+00;SOR=1.006	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,101,1413	20	0	1	0
chr16	68822084	68822084	A	G	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon11:c.A1612G:p.T538A	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	0	1521	1	0	0	1	0.000328623	.	.	1457324	Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.01	B	0.456	N	1.000	N	0.77	N	0.14	T	-0.979	T	0.130	T	0.196	-0.531	1.584	4.21	0.832	-0.083	2.515	0.134	0.0317840558297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.28271	T	0.235	0.24767	T	0.001	0.07471	B	0.002	0.06944	B	0.456499	0.04844	N	1.348280	1	0.08975	N	1.1	0.28011	L	0.14	0.60854	T	-0.44	0.14588	N	0.035	0.27792	-0.9786	0.35322	T	0.130	0.43907	T	10	0.09063172	0.15805	T	0.031784	0.53784	D	0.134	0.36365	0.486	0.56939	0.804625370448	0.80279	0.24054157842991092	0.23968	0.247179053754	0.27258	0.288926303387	0.08766	T	0.359687	0.72605	T	-0.163802	0.26177	T	-0.473067	0.25186	T	0.0457077611768035	0.04731	T	0.0435956	0.00345	T	0.03553879	0.04203	0.035239056	0.02738	0.03553879	0.04202	0.035239056	0.02738	-6.659	0.51501	T	0.08171985185264466	0.04247	0.067	0.03026	B	.;.;.;.;.	.;.;.;.;.	0.090106	0.04941	1.511	0.76694514987543927	0.11572	0.05811	0.11749	N	AEFBI	0.167444	0.29411	N	-0.827891977258328	0.12601	0.6152212	-0.808809796583138	0.14283	0.7454593	0.999955536616111	0.48110	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.34	4.21	0.48984	0.072000	0.14482	2.284000	0.31916	0.743000	0.86499	0.000000	0.06391	0.001000	0.17328	0.031000	0.13245	0.4789:0.298:0.0796:0.1435	2.515	0.04382	334	0.86273	.;.;.;.;.	.	.	.	.	.	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	1749.98	33	chr16	68822084	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=826;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-2.600e-02;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	20	0	1	0
chr16	68828263	68828263	G	A	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2071A:p.V691I	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	150609	not_provided|Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified	MedGen:C3661900|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.971	D	0.591	P	0.001	D	0.946	N	-0.505	N	-1.04	T	-0.761	T	0.190	T	0.126	1.641	11.45	2.76	0.458	1.111	11.276	0.228	0.0140434405786	.	.	8.237e-06	9.615e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs587781351	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	0.0001	8.675e-05	0.0002	0	0	0	0	0	8.993e-07	8.279e-05	1.159e-05	3.283e-05	3.281e-05	3.854e-05	2.686e-05	9.622e-05	1.26e-05	7.98e-06	3.242e-05	1.91e-05	9.622e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.971	0.57185	D	0.591	0.50479	P	0.000539	0.43581	D	0.000000	0.966766	0.26644	N	-0.13	0.04535	N	-1.04	0.76561	T	-0.08	0.08187	N	0.181	0.19995	-0.7615	0.57324	T	0.190	0.54183	T	10	0.18117097	0.33336	T	0.014043	0.33885	T	0.228	0.52768	0.556	0.67409	0.72085163809	0.71839	0.71783546990474	0.71726	0.272877571369	0.29797	0.6313996315	0.57344	T	0.16855	0.51560	T	-0.25607	0.13365	T	-0.424075	0.30608	T	0.2069177846103	0.20791	T	0.79532	0.51368	T	0.04889869	0.08596	0.044841737	0.05900	0.04889869	0.08596	0.044841737	0.05899	-6.813	0.56031	T	0.12841883047636451	0.13296	0.081	0.09578	B	.;.;.	.;.;.	3.045533	0.40845	21.2	0.98283596933481809	0.39879	0.39717	0.26275	N	AEFBCI	0.206247	0.33253	N	-0.405762416083499	0.25266	1.370309	-0.362474441919875	0.26126	1.441073	0.0208018724913799	0.13292	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.77	2.76	0.31527	1.958000	0.40027	5.758000	0.49667	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.982000	0.59238	0.2007:0.0:0.7993:0.0	11.276	0.48399	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic 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	2031.98	37	chr16	68828263	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=962;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.450e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	20	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/0:106,0:106:25:0,25,2230	7	0	4	10
chr16	70472982	70472982	G	C	splicing	FCSK	NM_145059:exon15:c.1407-1G>C	.	.	.	YES	418	1103	1	0	0	1	0.000453104	1.0000	0.954	1699639	Congenital_disorder_of_glycosylation_with_defective_fucosylation_2|not_provided|not_specified	MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.964	15.88	4.6	1.330	5.302	13.804	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0005	0	0	0.000194	30	154602	rs201291016	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0005	0.0002	0.0003	2.368e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.826e-05	0.0055	0.0001	0	0	0	0.0032	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139866	0.53569	T	0.0984703	0.76806	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.232752	0.87839	29.4	0.99219220604533487	0.55839	0.98040	0.79094	D	AEFDBI	.	.	.	0.936541139725994	0.93431	12.03506	0.746592066932378	0.85902	8.721152	0.999996942596924	0.74766	0.106106	0.02776	0	0.090008	0.02477	0	0.099915	0.03048	0	0.109871	0.03346	0	0.877654	0.54502	5.57	4.6	0.56512	3.440000	0.52649	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:0.8465:0.1535	13.804	0.62711	108	0.95573	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr16	70472982	.	G	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=767;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-5.660e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1361	20	0	1	0
chr16	81365421	81365421	C	T	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon8:c.C806T:p.A269V	Giant axonal neuropathy-1, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	260130	Giant_axonal_neuropathy_1|Inborn_genetic_diseases|not_provided|GAN-related_disorder	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.003	U	0.999	N	0	N	-0.9	T	-0.928	T	0.122	T	0.032	1.074	9.386	1.92	1.080	1.829	0.394	0.169	0.00698229992254	0.0018	0.000798722	0.0016	0.0003	0.0005	0	0.0006	0.0025	0.0033	0.0009	0.0016106	249	154602	rs146576740	0.0024	0.0024	0.0023	0.0024	0.0066	0.0023	0.0023	0.0049	0.0044	0.0003	0.0008	0.0063	0	0.0006	0.0066	0.0026	0.0025	0.0010	0.0016	0.0016	0.0017	0.0015	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0004	0.0049	0	0.0005	0.0137	0.0029	0.0029	0.0004	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.003040	0.00935	U	6.382080	0.998759	0.21933	N	0	0.06538	N	.	.	.	.	.	.	0.189	0.20660	-0.9280	0.44429	T	0.122	0.42441	T	10	0.005330026	0.00117	T	0.006982	0.18485	T	.	.	.	.	0.578358932345	0.57506	0.1521723545216214	0.15139	0.117023510789	0.13191	0.303755044937	0.10963	T	0.203817	0.56240	T	-0.655028	0.00067	T	-0.719537	0.04818	T	0.00949088217655487	0.00122	T	0.531447	0.17660	T	0.02507069	0.01405	0.05703459	0.10296	0.02507069	0.01404	0.05703459	0.10296	-3.859	0.21689	T	.	.	0.059	0.00847	B	.;.	.;.	2.314733	0.29634	18.18	0.91099192627316949	0.20352	0.61644	0.31545	D	AEFGBI	0.068096	0.13418	N	-0.712853772984774	0.15660	0.7911482	-0.526383153771703	0.21437	1.159715	0.948983700656583	0.27825	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.69	1.92	0.24912	0.796000	0.26646	3.573000	0.39130	-0.167000	0.11441	0.997000	0.40164	1.000000	0.68203	0.860000	0.40782	0.2989:0.1644:0.137:0.3997	0.394	0.00386	850	0.35610	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1883.98	44	chr16	81365421	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=1000;ExcessHet=0.0000;FS=5.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.710e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr16	89145306	89145306	G	A	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G611A:p.R204Q	Combined malonic and methylmalonic aciduria	YES	0	1519	3	0	0	3	0.000986518	.	.	200311	Inborn_genetic_diseases|not_specified|ACSF3-related_disorder|not_provided|Combined_malonic_and_methylmalonic_acidemia	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.011	B	0.013	B	0.025	U	0.821	N	0.11	N	1.04	T	-1.081	T	0.038	T	0.337	2.723	15.07	3.65	2.152	1.333	7.001	0.114	0.014222500733	0.0059	0.00319489	0.0046	0.0013	0.0020	0.0008	0.0043	0.0064	0.0045	0.0034	0.0044631	690	154602	rs144681140	0.0065	0.0065	0.0066	0.0064	0.0076	0.0064	0.0063	0.0075	0.0074	0.0012	0.0018	0.0007	0.0010	0.0042	0.0016	0.0076	0.0044	0.0037	0.0047	0.0047	0.0049	0.0044	0.0078	0.0044	0.0043	0.0072	0.0070	0.0014	0	0.0033	0.0003	0.0006	0.0043	0	0.0078	0.0028	0.0039	0.025	0.58626	D	0.089	0.40426	T	0.011	0.15914	B	0.013	0.16460	B	0.025382	0.26097	U	0.314197	0.978255	0.28886	N	0.705	0.18577	N	1.04	0.40218	T	-0.43	0.16393	N	0.531	0.56231	-1.0813	0.07099	T	0.038	0.16505	T	10	0.016626418	0.00351	T	0.014223	0.34189	T	0.114	0.32008	.	.	0.26169431596	0.25797	0.4902084639917607	0.48940	0.058545899825	0.06494	0.35657709837	0.18886	T	0.042358	0.31851	T	-0.463989	0.00928	T	-0.432442	0.29658	T	0.0170694514439318	0.00454	T	0.969903	0.95294	D	0.09251051	0.21705	0.07462348	0.16346	0.10821818	0.25588	0.06709118	0.13832	-7.97	0.60865	D	0.12609643622955544	0.12667	0.098	0.27222	B	.;.;.;.;.	.;.;.;.;.	3.011505	0.40274	21.1	0.99855948919229431	0.93458	0.71659	0.35109	D	AEFDGBHCI	0.304634	0.41227	N	-0.345309128193244	0.27445	1.505818	-0.167296538495479	0.32748	1.866217	0.999705277723038	0.41986	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.68	3.65	0.40985	1.440000	0.34634	6.648000	0.56206	-0.211000	0.08354	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0992:0.0:0.6206:0.2802	7.001	0.23986	884	0.28482	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|CBFA2T3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Substantia_nigra|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	ZNF778|CPNE7|ZNF778|ZNF778	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs144681140	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2355.98	33	chr16	89145306	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=914;ExcessHet=0.0000;FS=3.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.766;SOR=0.763	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D	Combined malonic and methylmalonic aciduria	YES	0	1508	14	0	0	14	0.00462046	.	.	375624	not_specified|not_provided|Combined_malonic_and_methylmalonic_acidemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.984	D	2.545	M	-0.61	T	0.288	D	0.599	D	0.917	3.446	17.67	4.69	2.155	2.763	9.515	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	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	0	0	0.02381	1331.98	33	chr16	89145370	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.883e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.002	B	0.001	B	0.261	N	1.000	N	0	N	-1.82	D	-0.737	T	0.285	T	0.041	0.919	8.743	-9.26	-2.861	-1.413	12.127	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	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	0	0	0.04762	1786.11	40	chr16	89769951	.	G	A	1786.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.596;DP=906;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.453;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	19	0	2	0
chr16	89770246	89770246	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon25:c.G2236T:p.A746S	Fanconi anemia, complementation group A, Autosomal recessive	YES	2	1513	7	0	0	7	0.00230795	.	.	342977	FANCA-related_disorder|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	.|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.996	D	0.837	P	0.007	N	1.000	D	2.14	M	-2.03	D	0.226	D	0.641	D	0.339	2.638	14.78	3.75	2.388	1.389	10.004	0.374	0.101411964741	.	0.000399361	0.0013	0	0.0009	0	0	0.0002	0	0.0044	0.0003816	59	154602	rs575108446	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	2.584e-05	0	0	0	0.0018	5.663e-05	0.0003	0.0032	0.0002	0.0002	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.407e-05	0.0088	0	0	0	0	0	8.822e-05	0	0.0046	0.094	0.34800	T	0.368	0.17640	T	0.991	0.64070	D	0.734	0.55432	P	0.006820	0.31785	N	0.258804	0.931221	0.27052	N	2.595	0.75868	M	-2.03	0.85613	D	-1.58	0.38151	N	0.507	0.57604	0.226	0.86353	D	0.641	0.87442	D	10	0.017692685	0.00379	T	0.101412	0.77427	D	0.374	0.69273	.	.	0.848377370426	0.84692	0.18838922495874405	0.18756	.	.	0.439378619194	0.30491	T	0.360636	0.72685	T	-0.276577	0.11034	T	-0.172482	0.57216	T	0.0988314533091084	0.12228	T	0.858114	0.57479	D	0.1316803	0.30686	0.091280915	0.21453	0.10534849	0.24908	0.09300635	0.21946	-5.255	0.43255	T	0.8429165523238975	0.91100	0.240	0.47912	B	.;.	.;.	4.078100	0.60640	24.2	0.99523908714592113	0.69407	0.90058	0.50943	D	AEFDBI	0.154209	0.27920	N	0.415953226182305	0.62299	4.443546	0.354177331739331	0.58759	4.04856	0.854307646848187	0.25103	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.79	3.75	0.42236	1.251000	0.32465	6.028000	0.52885	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.442000	0.27716	0.0:0.7322:0.2678:0.0	10.004	0.41118	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	939.98	46	chr16	89770246	.	C	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.560e-01;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.160e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	89771706	89771706	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon23:c.C2123T:p.T708M	Fanconi anemia, complementation group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1189357	Fanconi_anemia|Fanconi_anemia_complementation_group_A	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.744	P	0.153	B	0.571	N	1.000	N	0	N	-1.85	D	-0.711	T	0.307	T	0.322	2.103	12.99	2.43	0.421	0.777	7.669	0.253	0.16509569533	.	.	4.118e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs775960094	2.052e-05	2.052e-05	1.633e-05	2.475e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	5.974e-05	6.708e-05	0	2.519e-05	0	0	9.892e-06	4.968e-05	0.0001	1.314e-05	1.313e-05	2.57e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.094	0.32453	T	0.051	0.48594	T	0.744	0.43069	P	0.153	0.34292	B	0.571086	0.05480	N	1.281360	1	0.08975	N	0.895	0.22405	L	-1.85	0.84267	D	-1.31	0.32791	N	0.201	0.22228	-0.7110	0.59903	T	0.307	0.67749	T	10	0.210343	0.37426	T	0.165096	0.84405	D	0.253	0.56294	.	.	0.926381392349	0.92563	0.22444683338229854	0.22359	.	.	0.29754036665	0.10035	T	0.178804	0.52958	T	-0.188533	0.22474	T	-0.271923	0.47624	T	0.0506548143746955	0.05614	T	0.735226	0.39759	T	0.025960354	0.01593	0.032917783	0.02102	0.025960354	0.01593	0.032917783	0.02102	-4.136	0.26330	T	0.2483999870984128	0.33633	0.083	0.10449	B	.;.	.;.	1.674894	0.21352	15.16	0.99355197651465954	0.60779	0.13894	0.18111	N	AEFDBI	0.046059	0.07605	N	-0.713118589336418	0.15652	0.7907001	-0.780720900229227	0.14967	0.7848607	0.0290724974712475	0.13867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	2.43	0.28797	0.723000	0.25609	3.037000	0.36065	0.676000	0.76740	0.000000	0.06391	0.286000	0.24137	0.000000	0.00833	0.2056:0.0:0.7944:0.0	7.669	0.27616	671	0.60868	.;.	.	.	.	.	.	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	1674.98	38	chr16	89771706	.	G	A	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.37;SOR=0.691	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1032	20	0	1	0
chr16	89808341	89808341	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_001351830:exon5:c.G453T:p.W151C	Fanconi anemia, complementation group A, Autosomal recessive	YES	4	1517	1	0	0	1	0.000329489	.	.	1309498	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	D	1.000	D	2.175	M	0.88	T	-0.559	T	0.252	T	0.934	1.974	12.56	4.77	2.369	3.781	14.927	0.427	0.194019943109	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs758528624	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.496e-06	0	2.319e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.005	0.74150	D	1.0	0.90584	D	0.986	0.92359	D	0.000556	0.43413	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.88	0.46028	T	-8.77	0.99702	D	0.876	0.87373	-0.5592	0.66434	T	0.252	0.62178	T	10	0.9698795	0.96558	D	0.19402	0.86338	D	0.427	0.73445	0.58	0.70604	0.688930815118	0.68626	0.5718420959205982	0.57112	.	.	0.591933786869	0.51767	T	0.682168	0.90678	D	0.245061	0.78137	D	0.129723	0.78876	D	0.992833137512207	0.83423	D	0.951005	0.81346	D	0.7413801	0.80371	0.64577407	0.79290	0.7413801	0.80373	0.64577407	0.79291	-3.454	0.15794	T	0.8807923258725571	0.93860	0.902	0.84477	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080942	0.60700	24.2	0.95898064750241074	0.28123	0.96910	0.71608	D	AEFBI	0.559895	0.56852	D	0.452757545788861	0.64360	4.688686	0.353227024816723	0.58703	4.04239	0.998483304634699	0.37052	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	4.077000	0.57320	7.438000	0.58849	0.539000	0.25131	0.999000	0.42656	1.000000	0.68203	0.046000	0.14843	0.0:1.0:0.0:0.0	14.927	0.70537	584	0.69381	Fanconi anaemia group A protein, N-terminal domain;.;.;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-terminal 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	778.98	36	chr16	89808341	.	C	A	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.290;DP=860;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=0.197;SOR=0.763	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	YES	1	1480	38	3	0	44	0.0146471	.	.	76620	Leber_congenital_amaurosis_4|Leber_congenital_amaurosis_1|AIPL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN239169|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.031	B	0.023	B	0.385	N	1.000	D	0.345	N	-0.61	T	-1.134	T	0.132	T	0.665	2.423	14.06	-3.89	-1.235	-0.228	4.532	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2197.98	34	chr17	6425710	.	C	A	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=888;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.854e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	20	0	1	0
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q	VLCAD deficiency, Autosomal recessive	YES	0	1484	36	2	0	40	0.0132979	.	.	192609	not_specified|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.035	B	0.002	B	0.276	N	0.995	N	0.69	N	-1.15	T	-0.931	T	0.224	T	0.659	1.518	11.03	0.885	0.335	-0.016	8.384	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1922.11	39	chr17	7224973	.	G	A	1922.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.677;DP=904;ExcessHet=0.1072;FS=13.536;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.995;SOR=0.927	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	19	0	2	0
chr17	7670630	7670630	C	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon6:c.G683T:p.G228V	Adrenal cortical carcinoma, Autosomal recessive;Breast cancer, Autosomal dominant;Choroid plexus papilloma, Autosomal dominant;Colorectal cancer, Autosomal dominant;Hepatocellular carcinoma, Somatic mutation;Li-Fraumeni syndrome, Autosomal dominant;Nasopharyngeal carcinoma;Osteosarcoma, Autosomal recessive;Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial	YES	.	.	.	.	.	.	.	.	.	152266	Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.04	B	0.664	N	0.996	N	2.25	M	-5.49	D	0.716	D	0.921	D	0.15	-0.563	1.459	0.932	-0.279	-0.015	4.719	0.325	0.195512277915	.	.	5.224e-05	0	0	0	0.0002	7.82e-05	0	0	3.88e-05	6	154602	rs35993958	4.174e-05	4.173e-05	4.765e-05	3.576e-05	6.711e-05	3.311e-05	3.001e-05	3.343e-05	2.956e-05	0	6.711e-05	0	2.519e-05	9.365e-05	0	4.317e-05	3.312e-05	2.32e-05	8.544e-05	8.537e-05	2.57e-05	0.0001	6.556e-05	4.958e-05	3.964e-05	1.171e-05	6.25e-06	2.412e-05	0	6.556e-05	0	0	0.0008	0	4.41e-05	0	0	0.316	0.13744	T	0.257	0.25591	T	0.012	0.16265	B	0.04	0.23831	B	0.663504	0.10406	N	0.845077	0.996369	0.23037	N	1.75	0.45442	L	-5.49	0.99138	D	0.68	0.02228	N	0.365	0.45520	0.716	0.93374	D	0.921	0.97395	D	10	0.09957361	0.18079	T	0.195512	0.86426	D	0.325	0.64725	0.155	0.05858	0.755418883554	0.75320	0.3404412619522595	0.33957	0.132162359655	0.14894	0.256064116955	0.04433	T	0.36885	0.73367	T	-0.123809	0.32502	T	-0.211069	0.53594	T	0.0192148322353784	0.00628	T	0.531747	0.20891	T	0.05720615	0.11356	0.07868565	0.17647	0.05720615	0.11356	0.07868565	0.17647	-5.048	0.37780	T	0.38327875784568266	0.47741	0.077	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.164379	0.05545	2.003	0.27338565953744215	0.01352	0.19982	0.20870	N	AEFBI	0.214301	0.33979	N	-1.37262766822357	0.02897	0.1286086	-1.4143170476447	0.03108	0.144354	1.05561642023614E-4	0.05123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	0.932	0.18591	0.024000	0.13447	0.573000	0.19627	-0.816000	0.03012	0.000000	0.06391	0.097000	0.22620	0.092000	0.17891	0.0:0.3948:0.1635:0.4417	4.719	0.12291	450	0.79359	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.02381	899.98	35	chr17	7670630	.	C	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.610;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr17	11669491	11669491	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon17:c.A3050G:p.Y1017C,	.	YES	419	1099	4	0	0	4	0.00181653	.	.	703956	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.981	D	0.827	P	0.000	D	1.000	D	1.935	M	1.8	T	-1.099	T	0.044	T	0.738	1.939	12.44	3.7	0.817	3.285	11.007	0.286	.	0.0003	0.00599042	0.0056	0.0007	0.0555	0	0	0.0002	0.0011	0.0006	0.0052328	809	154602	rs139596704	0.0017	0.0017	0.0020	0.0015	0.0507	0.0017	0.0017	0.0489	0.0482	0.0003	0.0507	3.826e-05	0	0	0.0014	0.0001	0.0015	0.0006	0.0028	0.0029	0.0028	0.0029	0.0249	0.0026	0.0025	0.0228	0.0220	0.0006	0	0.0249	0	0	0	0	0.0003	0.0028	0.0006	0.0	0.91255	D	.	.	.	0.981	0.59675	D	0.827	0.59428	P	0.000050	0.53742	D	0.077308	0.999793	0.49177	D	2.93	0.84523	M	1.8	0.25996	T	-4.71	0.82700	D	0.531	0.56317	-1.0993	0.04177	T	0.044	0.18742	T	10	0.0051451027	0.00112	T	.	.	.	0.286	0.60456	.	.	0.734234264884	0.73186	0.6023714602692022	0.60168	0.397087255526	0.40806	0.481179028749	0.36219	T	0.123338	0.44763	T	-0.298047	0.08844	T	-0.161423	0.58224	T	0.0771547130699147	0.09619	T	0.973703	0.90499	D	0.6328966	0.74453	0.49605015	0.70857	0.5692652	0.71021	0.49605015	0.70857	-0.442	0.00549	T	.	.	0.184	0.39832	B	.;.	.;.	2.935804	0.39022	20.9	0.99454314351262907	0.65427	0.90844	0.52368	D	AEFBI	0.573575	0.57670	D	0.182505839674021	0.50359	3.226676	0.0560197701511414	0.42362	2.561061	0.752750981456619	0.23386	0.487112	0.14033	0	0.573888	0.26702	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.8	3.7	0.41607	3.333000	0.51806	5.120000	0.47580	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.014000	0.10232	0.8606:0.0:0.0:0.1394	11.007	0.46856	852	0.35056	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	3269.98	33	chr17	11669491	.	A	G	3269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.591;DP=962;ExcessHet=0.0000;FS=1.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-1.155e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D,	.	YES	419	1095	8	0	0	8	0.00363967	0.0156	0.184	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.421	B	0.493	P	0.341	N	0.537	D	2.115	M	-1.4	T	-0.054	T	0.523	D	0.273	2.425	14.07	4.48	1.529	2.152	14.183	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	41	chr17	11854427	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.164;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1478	20	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	YES	0	1493	28	1	0	30	0.00994695	.	.	18409	not_specified|not_provided|Birt-Hogg-Dube_syndrome|Familial_spontaneous_pneumothorax|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.257	N	1.000	N	-1.1	N	-2.99	D	-0.568	T	0.295	T	0.061	1.047	9.277	-7.45	-1.837	-0.036	7.727	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	33	chr17	17215284	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.696;DP=882;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-3.490e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1327	20	0	1	0
chr17	18178850	18178850	A	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon65:c.A10573G:p.S3525G,	Deafness, autosomal recessive 3, Autosomal recessive	YES	0	1511	11	0	0	11	0.00362677	.	.	230759	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	.	.	1.000	D	2.14	M	-2.8	D	0.539	D	0.709	D	0.491	4.171	21.6	5.6	2.132	9.070	15.459	0.500	.	0.0002	0.0125799	0.0064	0.0005	0.0138	0.0006	0	6.042e-05	0.0068	0.0358	0.0058214	900	154602	rs182332665	0.0028	0.0028	0.0018	0.0038	0.0366	0.0027	0.0027	0.0356	0.0351	0.0005	0.0125	0	0.0002	0	0.0012	4.496e-05	0.0037	0.0366	0.0028	0.0028	0.0021	0.0036	0.0387	0.0026	0.0025	0.0342	0.0324	0.0008	0	0.0120	0	0.0012	9.436e-05	0	4.413e-05	0.0062	0.0387	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	1	0.81001	D	2.77	0.80896	M	-2.8	0.91076	D	-1.7	0.40468	N	0.407	0.44761	0.539	0.91090	D	0.709	0.90006	D	9	0.008612871	0.00195	T	.	.	.	0.500	0.78350	.	.	0.935787677643	0.93512	0.46874749108965874	0.46793	.	.	0.721662759781	0.70288	T	0.030362	0.49389	T	-0.164003	0.26145	T	0.0188048	0.71553	D	0.0351016106589374	0.02826	T	0.822818	0.48291	T	0.37915948	0.59256	0.50394154	0.71326	0.3924253	0.60205	0.45464295	0.68291	-3.942	0.22933	T	0.6270703916275335	0.69605	0.265	0.49903	B	.;.;.	.;.;.	3.901542	0.56841	23.8	0.99626242462518366	0.75716	0.99061	0.90654	D	AEFI	0.927590	0.91048	D	0.773262619416709	0.84410	8.279811	0.749083215684274	0.86089	8.778858	0.99999999967714	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	9.083000	0.93460	11.223000	0.89837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	1.0:0.0:0.0:0.0	15.459	0.75067	140	0.94439	FERM domain;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	831.98	34	chr17	18178850	.	A	G	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.980e-01;DP=745;ExcessHet=0.0000;FS=1.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=2.04;SOR=0.970	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chr17	19651620	19651620	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon2:c.C227T:p.P76L	Sjogren-Larsson syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.244	B	0.150	N	0.999	N	2.235	M	-0.95	T	-0.541	T	0.367	T	0.299	2.413	14.03	4.55	1.550	0.692	14.926	0.251	0.0401028175033	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs754120524	4.104e-06	4.104e-06	0	8.25e-06	4.637e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.104	0.47097	T	0.49	0.41662	P	0.214	0.38795	B	0.150281	0.17991	N	0.614295	0.999749	0.20516	N	2.535	0.73915	M	-0.95	0.75438	T	-3.96	0.75935	D	0.509	0.54059	-0.5414	0.67110	T	0.367	0.72689	T	10	0.30176142	0.47716	T	0.040103	0.59190	D	0.251	0.56024	0.445	0.50302	0.895981450604	0.89494	0.5835450515123446	0.58283	0.314409667768	0.33727	0.353762984276	0.18475	T	0.310866	0.86968	T	-0.163852	0.26168	T	-0.29161	0.45605	T	0.477710396051407	0.31814	T	0.907509	0.67839	D	0.32434392	0.55004	0.22945112	0.48017	0.32434392	0.55004	0.22945112	0.48016	-6.928	0.53507	T	0.6872018912622236	0.76442	0.137	0.31330	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.173300	0.43041	21.7	0.97139307091369897	0.32534	0.42228	0.26832	N	AEFDBI	0.504303	0.53592	D	-0.00855080460601408	0.41468	2.480873	-0.00275976420071415	0.39591	2.34976	0.999998905047347	0.74766	0.643511	0.44296	0	0.662677	0.63036	0	0.723109	0.80598	0	0.631631	0.49550	0	.	.	5.53	4.55	0.55429	0.617000	0.24053	1.778000	0.28692	0.580000	0.29708	0.000000	0.06391	0.005000	0.19230	0.995000	0.73285	0.144:0.8559:0.0:0.0	14.926	0.70524	735	0.53711	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase 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	1784.98	35	chr17	19651620	.	C	T	1784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.789;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.300e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1382	20	0	1	0
chr17	31230283	31230283	T	C	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon23:c.T3014C:p.M1005T	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	478133	Juvenile_myelomonocytic_leukemia|Neurofibromatosis,_type_1|NF1-related_disorder|Cardiovascular_phenotype|Hereditary_cancer-predisposing_syndrome	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|.|MedGen:CN230736|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.001	D	1.000	D	-2.175	N	3.55	T	-0.927	T	0.005	T	0.351	-0.207	2.995	5.46	2.062	5.937	15.527	0.184	0.0301372825576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.10090	B	0.000637	0.42799	D	0.270437	0.995667	0.42797	D	-2.005	0.00192	N	3.41	0.06845	T	-0.11	0.08653	N	0.499	0.53181	-0.9266	0.44630	T	0.005	0.01833	T	10	0.051322848	0.04996	T	0.030137	0.52511	D	0.184	0.45763	0.598	0.72862	0.174091166621	0.17034	0.26756447935726063	0.26669	0.794837845557	0.65999	0.756662070751	0.75433	T	0.371385	0.73576	T	-0.167282	0.25647	T	-0.478065	0.24652	T	0.414437055587769	0.29484	T	0.852415	0.53747	D	0.09707384	0.22875	0.13054675	0.31366	0.09707384	0.22875	0.13054675	0.31365	-5.647	0.43219	T	0.03767598561740011	0.00259	0.072	0.04356	B	.;.;.	.;.;.	2.634552	0.34263	19.58	0.51136579761178647	0.04508	0.95922	0.66735	D	AEFGBI	0.610847	0.59951	D	-0.563821335834389	0.20052	1.054245	-0.212765148747512	0.31076	1.755419	0.444172701715889	0.20480	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	5.918000	0.69728	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.527	0.75650	688	0.59122	.;.;.	.	.	.	.	.	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	887.98	37	chr17	31230283	.	T	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.511;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	37710610	37710610	T	C	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon5:c.A1099G:p.S367G	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.01	B	0.000	D	1.000	D	1.78	L	-4.44	D	0.453	D	0.822	D	0.261	2.208	13.34	5.7	2.179	3.244	11.095	0.389	0.0606768328108	.	.	4.134e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752182450	1.984e-05	1.984e-05	8.168e-06	3.163e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.313e-05	0.0003	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.411	0.23570	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.036625	0.999891	0.50595	D	0.91	0.23283	L	.	.	.	.	.	.	0.324	0.39962	0.453	0.89879	D	0.822	0.94026	D	10	0.14148974	0.26883	T	0.060677	0.68080	D	.	.	0.468	0.54052	0.403974779092	0.40011	0.6134989243307271	0.61281	.	.	0.456156849861	0.32785	T	0.497043	0.81908	T	-0.310914	0.07669	T	-0.379835	0.35741	T	0.13492747168581	0.15830	T	.	.	.	0.34695324	0.56829	0.42662102	0.66433	0.34695324	0.56830	0.42662102	0.66433	-4.95	0.36720	T	.	.	0.080	0.19919	B	.;.;.;.;.	.;.;.;.;.	3.243004	0.44281	21.9	0.99256783788431835	0.57055	0.86664	0.45993	D	ALL	0.577430	0.57903	D	-0.0910221782393488	0.37786	2.203382	0.0990115258372517	0.44500	2.730507	0.999999999999999	0.74766	0.556989	0.30585	1	0.487994	0.07600	2	0.488094	0.07640	1	0.616919	0.45865	0	.	.	5.7	5.7	0.88690	3.252000	0.51162	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0741:0.0:0.9259	11.095	0.47359	0	0.99858	Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1302.98	33	chr17	37710610	.	T	C	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-3.310e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	20	0	1	0