Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	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	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	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	CADD_raw_rankscore	CADD_phred	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	GERP++_RS_rankscore	phyloP100way_vertebrate	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	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	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES628	WT	HH	HZ	NC
chr1	939398	939398	-	CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	exonic	SAMD11	.	nonframeshift insertion	SAMD11:NM_001385640:exon7:c.1184_1185insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H399_D400insGEDPPWHDPPHHLPSH,SAMD11:NM_001385641:exon7:c.1181_1182insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H398_D399insGEDPPWHDPPHHLPSH,SAMD11:NM_152486:exon7:c.644_645insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H235_D236insGEDPPWHDPPHHLPSH	.	.	.	.	.	.	.	.	.	.	.	1153717	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0015	0.0116	0.0014	0.0014	0.0106	0.0102	0.0116	0.0012	0.0042	0.0018	0.0036	0.0023	0.0011	0.0027	0.0004	0.0026	0.0079	0.0025	0.0026	0.0089	0.0023	0.0023	0.0080	0.0076	0.0089	0.0055	0.0010	0.0006	0.0006	0.0006	0.0071	0.0008	0.0031	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1584.73	34	chr1	939398	.	G	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	1584.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.326;DP=614;ExcessHet=0.4139;FS=6.587;MLEAC=2;MLEAF=0.2;MQ=59.77;MQRankSum=-1.077;QD=16.68;ReadPosRankSum=-1.173;SOR=0.308	GT:AD:DP:GQ:PL	0/1:24,19:43:99:695,0,916	3	0	2	1
chr1	941225	941225	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon8:c.C1280T:p.T427M,SAMD11:NM_001385641:exon8:c.C1277T:p.T426M,SAMD11:NM_152486:exon8:c.C788T:p.T263M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.129232395047	.	.	1.687e-05	0	0	0	0	0	0	9.073e-05	6.5e-06	1	154602	rs771437009	3.45e-06	6.841e-06	4.114e-06	2.778e-06	7.664e-05	1.01e-06	7.4e-07	2.032e-05	1.063e-05	0	0	0	7.664e-05	0	0	9.036e-07	0	1.184e-05	6.568e-06	6.561e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.21	0.19639	T	0.021	0.61642	D	0.606	0.39465	P	0.201	0.36881	B	0.110248	0.19450	N	0.522894	0.999858	0.20048	N	1.04	0.26193	L	.	.	.	-1.93	0.44852	N	0.262	0.37923	-1.0744	0.08472	T	0.064	0.26562	T	9	0.17081559	0.31766	T	0.129232	0.81126	D	0.137	0.36984	0.145	0.04843	0.36076525451	0.35686	0.23963901106015126	0.23877	0.0254876186551	0.02602	0.776508450508	0.78402	T	0.010266	0.24264	T	-0.0749876	0.40528	T	-0.345491	0.39720	T	0.261455953121185	0.23378	T	0.883312	0.60567	D	0.054973535	0.10621	0.091657765	0.21561	0.054973535	0.10621	0.091657765	0.21561	-4.338	0.28706	T	.	.	0.142	0.45099	B	.;.;.;.	.;.;.;.	3.485187	0.48688	22.7	0.99396363145870226	0.62565	0.39973	0.26333	N	AEFDGBCI	0.214345	0.33982	N	-0.334371951219307	0.27851	1.531364	-0.367229716858319	0.25982	1.432187	0.999999994728456	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.22	3.3	0.36912	1.467000	0.34930	.	.	0.454000	0.21428	0.739000	0.29016	0.159000	0.23246	0.037000	0.13953	0.0:0.7977:0.0:0.2023	7.598	0.27226	940	0.13648	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1109.06	40	chr1	941225	.	C	T	1109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=229;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.751;SOR=0.716	GT:AD:DP:GQ:PL	0/1:17,22:39:99:485,0,379	4	0	2	0
chr1	2304397	2304397	G	C	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon5:c.G1579C:p.D527H	Shprintzen-Goldberg syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.283220222917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.141e-07	2.052e-06	1.41e-06	0	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.105	0.38016	T	0.612	0.39723	P	0.236	0.38470	B	0.460676	0.12396	N	0.742997	0.550273	0.32127	D	0.695	0.17993	N	-3.79	0.95663	D	-1.3	0.32590	N	0.153	0.15749	0.506	0.90625	D	0.685	0.89118	D	10	0.2728582	0.44832	T	0.28322	0.90305	D	0.281	0.59861	0.139	0.04277	0.502596446142	0.49897	0.1443985642539805	0.14362	0.572780178099	0.53354	0.494267046452	0.38031	T	0.281984	0.65472	T	0.0562007	0.59135	T	-0.157048	0.58617	T	0.421609222870986	0.29750	T	0.457954	0.13172	T	0.14006032	0.32329	0.12400554	0.29895	0.14006032	0.32329	0.12400554	0.29894	-4.696	0.33355	T	.	.	0.121	0.25265	B	.	.	3.393312	0.46987	22.4	0.986296159809956	0.43893	0.96791	0.70958	D	AEFDBI	0.331020	0.43088	N	-0.279196219815757	0.29952	1.66567	-0.257589450555274	0.29510	1.653917	0.999999999926703	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	4.37	0.51830	3.285000	0.51421	7.581000	0.60964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	16.053	0.80581	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	715.83	38	chr1	2304397	.	G	C	715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.557;DP=239;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.533;SOR=0.831	GT:AD:DP:GQ:PL	0/1:28,28:56:99:726,0,840	5	0	1	0
chr1	2591579	2591579	C	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon23:c.G2218A:p.V740I	.	.	.	.	.	.	.	.	.	.	.	2379949	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.135505680942	.	.	6.609e-05	0	0.0002	0	0	7.528e-05	0	6.056e-05	8.41e-05	13	154602	rs199987335	6.705e-05	6.772e-05	5.855e-05	7.565e-05	0.0004	5.63e-05	5.173e-05	0.0002	0.0002	2.987e-05	0.0004	0.0022	2.519e-05	1.876e-05	0	1.169e-05	9.938e-05	2.319e-05	7.924e-05	7.896e-05	3.87e-05	0.0001	0.0002	4.517e-05	3.529e-05	5.313e-05	2.842e-05	0	0	0.0002	0.0020	0.0002	0	0	1.472e-05	0	0	0.048	0.40068	D	0.132	0.35330	T	0.52	0.37518	P	0.11	0.31460	B	0.000667	0.42516	D	0.205916	0.988738	0.40818	D	2.375	0.68372	M	-2.78	0.90962	D	-0.86	0.23372	N	0.485	0.53708	0.391	0.88967	D	0.652	0.87889	D	10	0.25709093	0.43121	T	0.135506	0.81796	D	0.430	0.73662	0.623	0.75803	0.702066023234	0.69948	0.24221931732961025	0.24135	0.216576055188	0.24181	0.642463028431	0.58914	T	0.548083	0.84647	D	-0.213658	0.18866	T	-0.228525	0.51916	T	0.0382637078585022	0.03379	T	0.927707	0.73352	D	0.103715405	0.24515	0.12031997	0.29037	0.103715405	0.24514	0.12031997	0.29037	-11.354	0.87712	D	.	.	0.101	0.23395	B	.;.;.	.;.;.	3.269897	0.44751	22.0	0.98204484608520815	0.39149	0.91389	0.53435	D	AEFDBI	0.447465	0.50310	N	0.0132862736316442	0.42458	2.558635	-0.00556254424666146	0.39465	2.340258	0.999671319761414	0.41644	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.87	3.87	0.43823	3.328000	0.51766	3.007000	0.35945	0.524000	0.24156	0.998000	0.41325	0.996000	0.32793	0.437000	0.27605	0.0:1.0:0.0:0.0	12.687	0.56321	835	0.38313	Peptidase M13, C-terminal domain;Peptidase M13, C-terminal 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	.	.	.	.	.	.	.	.	0.08333	603.83	34	chr1	2591579	.	C	T	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=223;ExcessHet=0;FS=1.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.357;SOR=0.859	GT:AD:DP:GQ:PL	0/1:27,25:52:99:614,0,617	5	0	1	0
chr1	7745952	7745952	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon8:c.C1607T:p.A536V,CAMTA1:NM_001349615:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349616:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349618:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349619:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349622:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349624:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349626:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349614:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349617:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349620:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349621:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349623:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349625:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349608:exon17:c.C4388T:p.A1463V,CAMTA1:NM_001349612:exon17:c.C4049T:p.A1350V,CAMTA1:NM_001349609:exon18:c.C4139T:p.A1380V,CAMTA1:NM_001349610:exon18:c.C4139T:p.A1380V,CAMTA1:NM_015215:exon18:c.C4478T:p.A1493V	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	1288262	Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities|not_provided	MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0427979952457	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs147636995	6.977e-05	6.977e-05	6.67e-05	7.288e-05	0.0016	5.846e-05	5.457e-05	0.0008	0.0006	5.974e-05	0.0001	7.652e-05	0	0	0.0016	6.655e-05	6.623e-05	5.797e-05	5.909e-05	5.906e-05	2.57e-05	9.398e-05	6.536e-05	3.075e-05	2.209e-05	1.972e-05	1.124e-05	2.407e-05	0	6.536e-05	0.0006	0	0	0	5.88e-05	0.0005	0	0.007	0.59928	D	0.278	0.21812	T	0.894	0.49185	P	0.154	0.34351	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	1.95	0.53302	T	-2.24	0.58407	N	0.707	0.71055	-0.4208	0.71366	T	0.391	0.74539	T	10	0.32962638	0.50213	T	0.042798	0.60651	D	0.222	0.51872	.	.	0.663351989912	0.66052	0.4720427481553493	0.47123	0.851316480579	0.68548	0.717219352722	0.69641	T	0.150643	0.49021	T	-0.0940111	0.37413	T	-0.117771	0.61985	T	0.491120308637619	0.32305	T	0.852415	0.56300	D	0.28352967	0.51384	0.24048017	0.49423	0.28352967	0.51384	0.24048017	0.49422	-7.513	0.57702	D	0.5666541319699996	0.63407	0.161	0.35477	B	.;.	.;.	4.011597	0.59186	24.1	0.99923879439659247	0.98917	0.97660	0.76227	D	AEFDGBIJ	0.687609	0.64889	D	0.44385980688512	0.63854	4.627544	0.500903196125067	0.68052	5.167045	1.0	0.98316	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	6.115000	0.71256	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:1.0:0.0:0.0	20.173	0.98162	772	0.48957	.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1270.83	33	chr1	7745952	.	C	T	1270.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.722;SOR=0.622	GT:AD:DP:GQ:PL	0/1:32,48:80:99:1281,0,671	5	0	1	0
chr1	7835906	7835906	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon20:c.C3359T:p.T1120I,PER3:NM_001289864:exon20:c.C2399T:p.T800I,PER3:NM_001377275:exon20:c.C3359T:p.T1120I,PER3:NM_001377276:exon20:c.C3335T:p.T1112I,PER3:NM_016831:exon20:c.C3332T:p.T1111I,PER3:NM_001289861:exon21:c.C3302T:p.T1101I,PER3:NM_001289863:exon21:c.C3281T:p.T1094I	.	430	1082	10	0	0	10	0.00459982	.	.	.	3207130	PER3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0126678192079	0.0005	0.00199681	0.0012	0.0002	0.0012	0	0	0.0009	0.0033	0.0036	0.0010867	168	154602	rs35802556	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0006	0.0051	0.0045	0.0002	0.0018	0.0017	0	3.744e-05	0.0068	0.0004	0.0015	0.0033	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0005	0.0029	0.0024	0.0001	0	0.0014	0.0006	0.0002	0	0.0034	0.0007	0.0014	0.0043	0.005	0.68238	D	0.005	0.72224	D	0.993	0.66517	D	0.911	0.68276	D	0.000001	0.62929	D	0.056701	0.999998	0.18612	N	1.995	0.54099	M	2.3	0.16953	T	-2.98	0.63554	D	0.336	0.37717	-1.0898	0.05565	T	0.093	0.35390	T	10	0.010260373	0.00229	T	0.012668	0.31446	T	0.140	0.37593	.	.	0.425851741357	0.42205	0.801088203668532	0.80062	0.0910621410951	0.10283	0.418456315994	0.27625	T	0.291599	0.72922	T	-0.450412	0.01123	T	-0.422183	0.30825	T	0.0657858276570351	0.08046	T	0.561944	0.20346	T	0.24689956	0.47664	0.14406288	0.34215	0.2582306	0.48872	0.16181502	0.37618	-5.695	0.43649	T	0.7634413780337159	0.84507	0.268	0.51032	B	.;.;.;.	.;.;.;.	0.772759	0.11430	8.036	0.92766735841159331	0.22278	0.37649	0.25809	N	AEFBI	0.086952	0.17630	N	-0.00903532443446479	0.41446	2.479162	-0.227646104577955	0.30549	1.721047	0.0199741062019359	0.13214	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.98	3.07	0.34476	1.688000	0.37308	0.134000	0.15084	-0.817000	0.03001	0.400000	0.26170	0.001000	0.17328	0.001000	0.02609	0.0:0.8908:0.0:0.1092	8.478	0.32188	566	0.70798	.;Period circadian-like, C-terminal;.;Period circadian-like, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008595	0.005155	0.009511	0.011765	0.000000	0.008621	0.000000	0.011364	0.08333	1544.83	35	chr1	7835906	.	C	T	1544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.98;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.732;SOR=0.76	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1555,0,1142	5	0	1	0
chr1	7938763	7938763	C	T	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon3:c.G166A:p.A56T	.	431	1047	43	1	0	45	0.0210379	.	.	YES	246892	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00393022335699	0.0030	0.00159744	0.0036	0.0005	0.0032	0	0.0008	0.0048	0.0044	0.0039	0.0035316	546	154602	rs9657963	0.0037	0.0038	0.0036	0.0039	0.0248	0.0036	0.0036	0.0215	0.0203	0.0007	0.0043	0.0115	2.519e-05	0.0011	0.0248	0.0037	0.0049	0.0042	0.0033	0.0033	0.0033	0.0033	0.0074	0.0031	0.0030	0.0063	0.0059	0.0006	0	0.0074	0.0130	0.0002	0.0005	0.0204	0.0040	0.0071	0.0035	1.0	0.00964	T	0.941	0.02685	T	0.001	0.07471	B	0.001	0.04355	B	0.320357	0.04070	N	1.492440	1	0.08975	N	-1.08	0.01032	N	3.34	0.06063	T	1.3	0.00948	N	0.032	0.00825	-0.9451	0.41797	T	0.009	0.03096	T	10	0.0033856928	0.00059	T	0.00393	0.09274	T	0.070	0.20419	.	.	0.12205267543	0.11705	0.49123176202066027	0.49044	0.0877038788788	0.09897	0.234466671944	0.02315	T	0.238459	0.60636	T	-0.763029	0.00014	T	-0.866481	0.00776	T	0.00133808490448402	0.00013	T	0.410359	0.10588	T	0.084032446	0.19431	0.08841771	0.20615	0.084032446	0.19431	0.08841771	0.20615	-2.519	0.05912	T	.	.	0.058	0.00705	B	.;.	.;.	0.541472	0.09098	5.884	0.1384294636572114	0.00286	0.00405	0.02019	N	AEFBI	0.033166	0.03882	N	-1.18175397809927	0.05276	0.2401307	-1.07042647388821	0.08287	0.4067902	0.631043940166331	0.21968	0.549168	0.22868	0	0.588066	0.40923	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.39	3.06	0.34374	1.348000	0.33592	-0.949000	0.06820	-0.835000	0.02838	0.445000	0.26527	0.000000	0.08366	0.005000	0.06747	0.0:0.2271:0.0:0.7729	6.163	0.19590	809	0.43032	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, 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	0.016113	0.005051	0.019022	0.032164	0.000000	0.017241	0.021341	0.003788	0.08333	331.83	36	chr1	7938763	.	C	T	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.577;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.851;SOR=0.582	GT:AD:DP:GQ:PL	0/1:15,14:29:99:342,0,430	5	0	1	0
chr1	9264543	9264543	A	G	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.A2083G:p.S695G,H6PD:NM_004285:exon5:c.A2050G:p.S684G	Cortisone reductase deficiency 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00841123415084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867670924	1.574e-05	1.573e-05	1.226e-05	1.926e-05	0.0004	1.048e-05	8.76e-06	0.0003	0.0002	0.0004	0	0	0	0	0	2.698e-06	6.624e-05	2.319e-05	1.969e-05	3.281e-05	0	4.027e-05	7.216e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0	0	0	0	0	0	0.258	0.16683	T	0.305	0.20877	T	0.004	0.12183	B	0.011	0.15521	B	0.000548	0.43413	N	0.290238	0.998702	0.45307	D	0.705	0.18577	N	0.96	0.42888	T	-1.51	0.36787	N	0.122	0.11769	-1.0850	0.06407	T	0.049	0.20711	T	10	0.118512124	0.22408	T	0.008411	0.22257	T	0.047	0.12962	0.481	0.56142	0.435808882951	0.43200	0.5553864533728059	0.55465	0.0953587799458	0.10770	0.36070817709	0.19489	T	0.057152	0.30487	T	-0.241032	0.15218	T	-0.584002	0.14188	T	0.0793870911002159	0.09907	T	0.672333	0.28093	T	0.059430983	0.12078	0.07642909	0.16926	0.059430983	0.12078	0.07642909	0.16925	-3.527	0.16812	T	0.2298953583872099	0.31101	0.059	0.01668	B	.;.	.;.	1.972297	0.25058	16.62	0.97832460295890578	0.36272	0.83332	0.42457	D	AEFDBI	0.196485	0.32346	N	-0.398454346874945	0.25525	1.386184	-0.20173418622793	0.31475	1.781566	0.989836828146389	0.31950	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	3.36	0.37579	1.915000	0.39607	1.747000	0.28445	0.756000	0.94297	0.999000	0.42656	0.507000	0.25236	0.946000	0.48989	0.5478:0.0:0.1625:0.2898	3.308	0.06595	901	0.24189	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1764.83	151	chr1	9264543	.	A	G	1764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.05;DP=840;ExcessHet=0;FS=4.835;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.77;SOR=1.013	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1775,0,1933	5	0	1	0
chr1	10660315	10660315	T	C	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.A727G:p.I243V,CASZ1:NM_017766:exon6:c.A727G:p.I243V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00730102778392	.	.	0.0002	0	0.0002	0	0	3.014e-05	0.0011	0.0009	0.0001294	20	154602	rs765251135	8.961e-05	8.961e-05	4.901e-05	0.0001	0.0011	7.689e-05	7.233e-05	0.0009	0.0009	0	0	3.826e-05	0	0	0.0003	2.338e-05	9.934e-05	0.0011	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.948	0.54400	P	0.949	0.68658	D	0.000000	0.84330	D	0.000000	0.838404	0.35027	D	0.975	0.24501	L	.	.	.	-0.27	0.11366	N	0.705	0.70878	-0.4796	0.69381	T	0.220	0.58319	T	9	0.13803461	0.26254	T	0.007301	0.19361	T	0.152	0.39956	0.301	0.26843	0.27715347029	0.27323	0.2746612442575819	0.27379	.	.	0.728434085846	0.71278	T	0.298804	0.67135	T	-0.31817	0.07048	T	-0.280247	0.46779	T	0.261395457428229	0.23375	T	0.958704	0.86445	D	0.37784392	0.59160	0.24687718	0.50206	0.37784392	0.59160	0.24687718	0.50205	-5.492	0.41793	T	.	.	0.781	0.76425	P	.;.	.;.	4.174841	0.62805	24.5	0.99750547706455817	0.84228	0.93867	0.59421	D	AEFBI	0.787577	0.71732	D	0.430478299537956	0.63106	4.538026	0.439693148747423	0.64058	4.652447	0.999999886131012	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	5.886000	0.69487	7.762000	0.68315	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.908	0.63352	778	0.48011	.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	782.83	37	chr1	10660315	.	T	C	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.453;DP=230;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.343;SOR=0.739	GT:AD:DP:GQ:PL	0/1:17,30:47:99:793,0,459	5	0	1	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3333	27548.0	710	chr1	16564107	.	T	G	27548.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.125;DP=4528;ExcessHet=3.1439;FS=1.2;MLEAC=4;MLEAF=0.333;MQ=55.43;MQRankSum=10.37;QD=9.21;ReadPosRankSum=-0.193;SOR=0.834	GT:AD:DP:GQ:PL	0/1:399,440:839:99:14111,0,14033	2	0	4	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.25	6034.03	550	chr1	16564112	.	G	A	6034.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.6;DP=4304;ExcessHet=1.383;FS=1.499;MLEAC=3;MLEAF=0.25;MQ=54.9;MQRankSum=6.08;QD=2.7;ReadPosRankSum=-0.91;SOR=0.806	GT:AD:DP:GQ:PL	0/1:645,188:833:99:3458,0,23126	3	0	3	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:497,189:686:99:4064,0,18932	0	0	6	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:270,401:671:99:10655,0,8866	0	0	6	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.08333	1165.83	137	chr1	16567226	.	A	C	1165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.15;DP=2660;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.98;MQRankSum=-2.171;QD=0.64;ReadPosRankSum=0.211;SOR=0.732	GT:AD:DP:GQ:PL	0/1:1614,198:1812:99:1176,0,46021	5	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3333	1202.22	52	chr1	16579293	.	A	G	1202.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.45;DP=312;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.29;ReadPosRankSum=-0.469;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,16:58:99:0|1:16579293_A_G:531,0,1702:16579293	2	0	4	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3333	1200.96	52	chr1	16579294	.	T	C	1200.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.25;DP=313;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.28;ReadPosRankSum=-0.363;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,16:58:99:0|1:16579293_A_G:531,0,1702:16579293	2	0	4	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3333	515.95	52	chr1	16579305	.	G	A	515.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.93;DP=292;ExcessHet=3.1439;FS=79.332;MLEAC=4;MLEAF=0.333;MQ=35.81;MQRankSum=0.073;QD=3.94;ReadPosRankSum=0.406;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,9:54:99:0|1:16579305_G_A:242,0,1857:16579305	2	0	4	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.3333	385.95	52	chr1	16579308	.	G	C	385.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.18;DP=294;ExcessHet=3.1439;FS=66.33;MLEAC=4;MLEAF=0.333;MQ=35.87;MQRankSum=0.073;QD=2.9;ReadPosRankSum=0.078;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,9:55:99:0|1:16579305_G_A:239,0,1889:16579305	2	0	4	0
chr1	16582562	16582562	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1077	28	0	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4754	0.4827	0.4804	0.4601	0.4654	0.4720	0.4739	0.4927	0.0005379	14	26028	rs202075504	0.0001	0.0042	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	8.107e-05	0.0003	0.0003	0	0.0002	0	0.0001	0.0002	1.407e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0001	0.0001	2.923e-05	1.914e-05	5.017e-05	0	0.0001	0	0	0.0016	0	7.615e-05	0	0	.	.	.	0.653	0.06762	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.0016178787	0.00019	T	.	.	.	.	.	.	.	.	.	0.041448114611802936	0.04089	.	.	0.573401212692	0.49158	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-6.392	0.49448	T	.	.	0.057	0.00563	B	.;.	.;.	-0.393675	0.02236	0.227	0.38224358324587865	0.02565	0.00012	0.00170	N	AEFBI	0.020308	0.00789	N	.	.	.	.	.	.	3.41978884559381E-4	0.06626	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.345	0.11997	-1.666000	0.02065	-13.491000	0.00455	-2.340000	0.00311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4969:0.3097:0.0:0.1934	2.485	0.04316	448	0.79501	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	55.85	58	chr1	16582562	.	A	C	55.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=424;ExcessHet=0;FS=4.999;MLEAC=1;MLEAF=0.083;MQ=43.78;MQRankSum=-2.291;QD=0.87;ReadPosRankSum=-2.025;SOR=1.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,6:64:66:0|1:16582562_A_C:66,0,2351:16582562	5	0	1	0
chr1	16582566	16582566	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1073	32	0	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4756	0.4830	0.4809	0.4604	0.4656	0.4722	0.475	0.4928	0.0005379	14	26028	rs200499873	5.467e-05	0.0033	5.252e-05	5.678e-05	8.616e-05	4.305e-05	3.942e-05	4.225e-05	3.763e-05	0	8.616e-05	0.0001	0	6.108e-05	0	5.576e-05	0.0001	0	9.485e-05	0.0031	0.0001	6.953e-05	0.0002	5.693e-05	4.594e-05	8.22e-06	3.08e-06	4.962e-05	0	6.813e-05	0	0	0.0009	0	1.51e-05	0	0.0002	.	.	.	0.516	0.16522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.0016776323	0.00021	T	.	.	.	.	.	.	.	.	.	0.04361887031632314	0.04306	.	.	0.572986721992	0.49099	T	.	.	.	-0.605691	0.00135	T	-1.10781	0.00023	T	.	.	.	0.876612	0.58915	D	.	.	.	.	.	.	.	.	-6.598	0.51038	T	.	.	0.125	0.26263	B	.;.	.;.	-0.141115	0.03405	0.616	0.36035183622711708	0.02295	0.00012	0.00170	N	AEFBI	0.018223	0.00537	N	.	.	.	.	.	.	6.88243859610788E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	0.783	0.17717	-0.435000	0.07000	-5.842000	0.01578	-0.868000	0.02581	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.0:0.4062:0.5938	5.184	0.14502	448	0.79501	.;.	.	.	.	.	.	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	0.006517	0.000000	0.006812	0.011111	0.000000	0.008929	0.010949	0.004000	0.08333	34.85	58	chr1	16582566	.	T	G	34.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=408;ExcessHet=0;FS=7.906;MLEAC=1;MLEAF=0.083;MQ=43.38;MQRankSum=-2.442;QD=0.59;ReadPosRankSum=-1.9;SOR=2.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,5:59:45:0|1:16582562_A_C:45,0,2246:16582562	5	0	1	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	865.06	442	chr1	16757526	.	C	G	865.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.467;DP=2553;ExcessHet=0.4139;FS=3.119;MLEAC=2;MLEAF=0.167;MQ=41.01;MQRankSum=0.705;QD=1.1;ReadPosRankSum=1.59;SOR=0.391	GT:AD:DP:GQ:PL	0/1:277,39:316:99:373,0,8275	4	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	0/1:43,21:64:99:523,0,1342	0	2	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	294.06	269	chr1	16760446	.	C	T	294.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.64;DP=1695;ExcessHet=0.4139;FS=14.924;MLEAC=2;MLEAF=0.167;MQ=46.16;MQRankSum=0.679;QD=0.51;ReadPosRankSum=-1.193;SOR=2.284	GT:AD:DP:GQ:PL	0/1:267,35:302:99:267,0,7069	4	0	2	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	251.83	703	chr1	16760964	.	A	G	251.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=4023;ExcessHet=0;FS=4.372;MLEAC=1;MLEAF=0.083;MQ=56.92;MQRankSum=-1.744;QD=0.41;ReadPosRankSum=-1.466;SOR=1.146	GT:AD:DP:GQ:PL	0/1:548,66:614:99:262,0,18723	5	0	1	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-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	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.08333	3602.83	33	chr1	25392026	.	C	G	3602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=405;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.083;MQ=59.49;MQRankSum=-3.655;QD=16.53;ReadPosRankSum=0.765;SOR=0.572	GT:AD:DP:GQ:PL	0/1:92,126:218:99:3613,0,2273	5	0	1	0
chr1	25885820	25885820	G	T	exonic	STMN1	.	nonsynonymous SNV	STMN1:NM_001145454:exon5:c.C428A:p.A143D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0101917734127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.074	0.42976	T	0.275	0.31898	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.02	0.07299	N	0.277	0.31365	-1.0307	0.20227	T	0.073	0.29675	T	7	0.16695863	0.31163	T	0.010192	0.26434	T	0.074	0.21613	0.608	0.74063	0.286597616719	0.28274	0.3462732675054016	0.34541	1.58467069867	0.88449	0.327375411987	0.14538	T	.	.	.	-0.118576	0.33356	T	-0.408103	0.32444	T	0.135100002669873	0.15845	T	0.378562	0.09103	T	.	.	.	.	.	.	.	.	-5.029	0.37153	T	.	.	0.135	0.29422	B	.	.	0.627109	0.09953	6.712	0.95636782467533232	0.27428	0.14259	0.18308	N	AEFDBHI	0.062718	0.12073	N	-0.617101491055765	0.18429	0.9567989	-0.703513934929979	0.16872	0.8946356	0.999748178981772	0.42466	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.71	2.79	0.31792	1.064000	0.30189	0.773000	0.21413	0.656000	0.54149	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.1215:0.0:0.8785:0.0	7.209	0.25099	696	0.58299	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	436.83	33	chr1	25885820	.	G	T	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=208;ExcessHet=0;FS=1.387;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.629;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,16:35:99:447,0,484	5	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	775.83	40	chr1	26188770	.	A	G	775.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.747;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.392;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,30:54:99:786,0,629	5	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,9:20:99:1|0:26282278_C_T:345,0,435:26282278	1	1	4	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	409.4	35	chr1	26282386	.	GCCGGGA	*	409.4	.	AC=4;AF=0.4;AN=10;DP=180;ExcessHet=0.7136;FS=7.449;MLEAC=4;MLEAF=0.4;MQ=60;QD=3.56;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,9:17:99:0|1:26282278_C_T:354,0,309:26282278	1	0	4	1
chr1	33367331	33367331	G	A	exonic	PHC2	.	nonsynonymous SNV	PHC2:NM_001330488:exon6:c.C674T:p.P225L,PHC2:NM_001385122:exon6:c.C674T:p.P225L,PHC2:NM_001385109:exon7:c.C761T:p.P254L,PHC2:NM_001385112:exon7:c.C827T:p.P276L,PHC2:NM_001385120:exon7:c.C761T:p.P254L,PHC2:NM_001385121:exon7:c.C755T:p.P252L,PHC2:NM_198040:exon7:c.C761T:p.P254L,PHC2:NM_001385119:exon8:c.C761T:p.P254L	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0140252132577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.049	0.48336	D	0.191	0.29411	B	0.09	0.29851	B	0.000002	0.62929	D	0.063725	0.999911	0.81001	D	1.895	0.50365	L	1.9	0.34841	T	-2.49	0.56144	N	0.315	0.47208	-1.1003	0.04055	T	0.074	0.29897	T	10	0.19896185	0.35887	T	0.014025	0.33868	T	0.080	0.23350	0.126	0.03173	0.464612977235	0.46086	0.40687863997704315	0.40603	0.878040699643	0.69652	0.488299131393	0.37203	T	0.097685	0.72258	T	-0.148929	0.28479	T	-0.451703	0.27508	T	0.957750141620636	0.65089	D	0.79772	0.47570	T	0.20940843	0.43206	0.24742754	0.50273	0.20940843	0.43206	0.24742754	0.50272	-6.466	0.50023	T	.	.	0.171	0.37558	B	.;.	.;.	3.604223	0.50925	23.0	0.99739971239721292	0.83409	0.82632	0.41833	D	AEFGBCI	0.391869	0.47014	N	-0.0744462337446386	0.38517	2.257045	0.0927879172625022	0.44184	2.705196	0.999999025539405	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	5.74	4.79	0.60909	3.292000	0.51478	8.589000	0.77679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.419000	0.27206	0.0:0.0:0.8318:0.1682	12.257	0.53945	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	401.83	38	chr1	33367331	.	G	A	401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.76;SOR=0.877	GT:AD:DP:GQ:PL	0/1:18,14:32:99:412,0,528	5	0	1	0
chr1	36289168	36289168	G	C	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.G1149C:p.L383F,THRAP3:NM_005119:exon5:c.G1149C:p.L383F,THRAP3:NM_001321471:exon6:c.G1149C:p.L383F	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00365096861627	0.0005	0.000399361	0.0007	0.0003	0.0003	0	0	0.0005	0.0022	0.0025	0.0005757	89	154602	rs143880396	0.0006	0.0006	0.0005	0.0007	0.0026	0.0005	0.0005	0.0023	0.0022	8.961e-05	0.0002	0	0	0	0	0.0005	0.0006	0.0026	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0.0002	0	0.0001	0	0	0	0	0.0005	0.0005	0.0023	0.114	0.28646	T	0.717	0.05398	T	0.852	0.47012	P	0.509	0.47904	P	0.021364	0.26847	N	0.259072	0.947668	0.26593	N	1.445	0.36358	L	2.47	0.14783	T	-0.11	0.08653	N	0.149	0.15187	-1.0709	0.09216	T	0.029	0.12365	T	10	0.008604348	0.00195	T	0.003651	0.08402	T	0.090	0.26093	0.109	0.01988	0.128874641272	0.12493	0.031235033467607348	0.03072	1.29145872245	0.82792	0.397834897041	0.24768	T	0.10514	0.41534	T	-0.520429	0.00438	T	-0.525574	0.19731	T	0.0256025769630305	0.01352	T	0.847115	0.52772	T	0.037835494	0.04926	0.052640162	0.08711	0.037835494	0.04925	0.052640162	0.08710	-3.059	0.10831	T	.	.	0.063	0.04806	B	.;.;.	.;.;.	2.622597	0.34083	19.53	0.9975862959388142	0.84851	0.94965	0.62950	D	AEFBI	0.326876	0.42802	N	-0.0582867665394554	0.39233	2.310331	-0.0280581160971079	0.38453	2.266	0.870680260429495	0.25410	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	2.03	0.25714	0.663000	0.24735	3.907000	0.40386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2759:0.0:0.5216:0.2026	2.991	0.05619	128	0.94857	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	66.83	36	chr1	36289168	.	G	C	66.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.79;MQRankSum=0.574;QD=2.91;ReadPosRankSum=0.244;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,4:23:77:77,0,501	5	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	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	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.08333	603.83	48	chr1	41510704	.	C	T	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.137;DP=198;ExcessHet=0;FS=11.253;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=-0.106;SOR=0.037	GT:AD:DP:GQ:PL	0/1:7,21:28:99:614,0,194	5	0	1	0
chr1	43425140	43425140	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon18:c.G2578A:p.E860K,SZT2:NM_015284:exon18:c.G2578A:p.E860K	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	428	1077	17	0	0	17	0.00783049	.	.	.	238286	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_18|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0062	0.0115815	0.0137	0.0030	0.0815	0	0.0047	0.0079	0.0110	0.0071	0.0129882	2008	154602	rs143992266	0.0089	0.0090	0.0091	0.0088	0.0688	0.0088	0.0088	0.0668	0.0660	0.0022	0.0688	0.0062	0	0.0034	0.0078	0.0076	0.0083	0.0073	0.0097	0.0097	0.0097	0.0096	0.0435	0.0092	0.0091	0.0408	0.0397	0.0028	0	0.0435	0.0072	0	0.0042	0.0102	0.0082	0.0118	0.0073	0.166	0.23183	T	0.746	0.05018	T	0.0	0.02946	B	0.0	0.01387	B	0.086746	0.20570	N	0.499535	1	0.08975	N	0	0.06538	N	.	.	.	-1.12	0.28906	N	0.071	0.04426	-1.0404	0.17192	T	0.009	0.03054	T	9	0.0014998913	0.00017	T	.	.	.	.	.	.	.	.	.	0.24522843984122217	0.24436	0.296145491663	0.31998	0.364407449961	0.20026	T	0.037386	0.24457	T	-0.568671	0.00225	T	-0.53456	0.18833	T	0.00293386876584182	0.00031	T	0.708829	0.31953	T	0.026596127	0.01736	0.06328316	0.12514	0.035250254	0.04113	0.0485871	0.07247	-4.234	0.27241	T	0.08461534247174136	0.04687	0.071	0.03925	B	.;.	.;.	2.300952	0.29439	18.12	0.99411341808728793	0.63310	0.03568	0.08778	N	AEFGBI	0.048444	0.08267	N	-0.733146932108604	0.15094	0.7577422	-0.60612343624952	0.19334	1.036922	0.903313188003709	0.26149	0.651	0.46895	0	0.552637	0.17590	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.56	1.24	0.20416	1.925000	0.39705	3.314000	0.37488	0.674000	0.70861	0.008000	0.17931	0.935000	0.28640	0.971000	0.54645	0.3205:0.1314:0.5481:0.0	6.135	0.19446	766	0.49742	.;.	.	.	.	.	.	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	0.011581	0.015152	0.012228	0.005848	0.000000	0.008621	0.024390	0.000000	0.08333	2991.83	35	chr1	43425140	.	G	A	2991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.688;DP=377;ExcessHet=0;FS=4.08;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=1.57;SOR=0.969	GT:AD:DP:GQ:PL	0/1:95,105:200:99:3002,0,2430	5	0	1	0
chr1	43621945	43621945	A	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329140:exon31:c.A4754G:p.Q1585R,PTPRF:NM_001329139:exon33:c.A4814G:p.Q1605R,PTPRF:NM_130440:exon33:c.A5639G:p.Q1880R,PTPRF:NM_002840:exon34:c.A5666G:p.Q1889R,PTPRF:NM_001329137:exon35:c.A4832G:p.Q1611R,PTPRF:NM_001329138:exon37:c.A4856G:p.Q1619R	.	.	.	.	.	.	.	.	.	.	.	780705	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.485	0.0248005545375	.	0.000798722	0.0006	0	0.0003	0	0	0	0	0.0045	0.0005239	81	154602	rs200249684	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0002	0.0042	0.0040	0	4.472e-05	0	0	0	0.0009	8.993e-07	8.279e-05	0.0046	9.848e-05	9.842e-05	3.855e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.001	0.78490	D	0.092	0.39954	T	0.524	0.37583	P	0.251	0.39041	B	0.005850	0.32460	N	0.000000	1	0.81001	D	0.345	0.11182	N	-1.73	0.83327	D	-2.93	0.65512	D	0.619	0.69387	-0.8183	0.54040	T	0.212	0.57227	T	10	0.024730116	0.00691	T	0.024801	0.47786	T	0.615	0.84986	.	.	0.983557442206	0.98337	0.6672465006630891	0.66662	1.52427045819	0.87473	0.832796096802	0.86991	D	0.555154	0.85008	D	0.0552231	0.59011	T	0.307226	0.88530	D	0.202346935032102	0.20545	T	0.932307	0.74741	D	0.6516417	0.75452	0.62377554	0.78075	0.7185317	0.79081	0.63143957	0.78499	-9.108	0.68388	D	.	.	0.362	0.57732	A	.;.;.	.;.;.	3.913235	0.57078	23.8	0.99437051166095658	0.64571	0.97996	0.78734	D	AEFDBCI	0.961705	0.98304	D	0.400632417148452	0.61458	4.347108	0.495194730072185	0.67670	5.11535	0.999999917189425	0.74766	0.706548	0.73137	0	0.693144	0.66847	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.325000	0.96006	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75959	592	0.68746	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1069.83	34	chr1	43621945	.	A	G	1069.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.468;DP=290;ExcessHet=0;FS=1.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.2;SOR=0.896	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1080,0,1319	5	0	1	0
chr1	46303168	46303168	C	T	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon1:c.G155A:p.R52Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.741870939924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327637610	2.85e-06	8.209e-06	4.242e-06	1.436e-06	2.683e-05	6.7e-07	4.5e-07	7.3e-07	2e-07	0	0	0	2.683e-05	0	0	2.753e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.326	0.18789	T	0.948	0.53620	P	0.396	0.44364	B	0.079553	0.20977	N	0.384836	0.860965	0.28356	N	0.55	0.14455	N	-1.74	0.83413	D	-0.53	0.16393	N	0.342	0.52297	-0.4764	0.69498	T	0.396	0.74887	T	10	0.40685165	0.55952	T	0.741871	0.97933	D	0.235	0.53788	0.264	0.20946	0.469009519116	0.46530	0.38413547359813144	0.38328	1.24358563455	0.81613	0.785909295082	0.79821	T	0.003387	0.02788	T	0.0123184	0.53340	T	-0.220082	0.52729	T	0.464856873882974	0.31343	T	0.857714	0.54741	D	0.07363457	0.16468	0.04818582	0.07105	0.07363457	0.16467	0.04818582	0.07105	-4.795	0.34533	T	.	.	0.189	0.45124	B	.;.;.	.;.;.	4.731152	0.76202	26.5	0.99846871497108414	0.92663	0.47237	0.27938	N	ALL	0.217342	0.34248	N	0.238861831111646	0.53090	3.47958	0.325050639242633	0.57017	3.866055	0.999999999999961	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.24	5.24	0.72863	1.468000	0.34941	7.624000	0.62436	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.7723:0.1476:0.0801	9.329	0.37172	95	0.96074	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	361.83	36	chr1	46303168	.	C	T	361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=224;ExcessHet=0;FS=2.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.515;SOR=0.977	GT:AD:DP:GQ:PL	0/1:28,17:45:99:372,0,677	5	0	1	0
chr1	47033289	47033289	G	A	exonic	CYP4X1	.	nonsynonymous SNV	CYP4X1:NM_001320289:exon4:c.G410A:p.R137H,CYP4X1:NM_001320290:exon4:c.G218A:p.R73H,CYP4X1:NM_178033:exon4:c.G413A:p.R138H	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0395898544656	0.0003	0.00139776	0.0013	0.0002	0.0006	0.0001	0.0002	0.0005	0.0022	0.0069	0.0011966	185	154602	rs116257861	0.0008	0.0008	0.0005	0.0011	0.0079	0.0007	0.0007	0.0074	0.0072	0.0001	0.0005	7.656e-05	2.519e-05	1.872e-05	0.0026	0.0003	0.0011	0.0079	0.0006	0.0006	0.0004	0.0007	0.0060	0.0005	0.0004	0.0043	0.0037	9.636e-05	0	0.0010	0	0	0	0	0.0005	0.0009	0.0060	0.035	0.43708	D	0.02	0.58613	D	0.562	0.38380	P	0.219	0.37734	B	0.531480	0.11634	N	0.809286	1	0.08975	N	1.985	0.53793	M	-0.62	0.71895	T	-3.25	0.65283	D	0.179	0.19325	-0.6553	0.62482	T	0.348	0.71289	T	10	0.013477117	0.00286	T	0.03959	0.58894	D	0.232	0.53354	.	.	0.480123561213	0.47641	0.4720801227428827	0.47127	0.301512044459	0.32488	0.189154773951	0.00210	T	0.226792	0.59191	T	-0.473652	0.00807	T	-0.449559	0.27747	T	0.0575023924411078	0.06769	T	0.866613	0.56692	D	0.14327788	0.32936	0.10713784	0.25788	0.14327788	0.32936	0.10713784	0.25787	-6.489	0.50201	T	.	.	0.137	0.29941	B	.	.	1.863239	0.23667	16.11	0.99109552275995028	0.52699	0.10232	0.15795	N	AEFBI	0.155179	0.28033	N	-0.754643025364553	0.14507	0.7232336	-0.818700918087047	0.14042	0.7317067	0.00688395599055289	0.11333	0.638212	0.43195	0	0.624306	0.53593	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.91	-1.51	0.08207	1.063000	0.30177	-0.381000	0.09541	-0.188000	0.09543	0.001000	0.13787	0.000000	0.08366	0.864000	0.41028	0.4727:0.0:0.5273:0.0	12.505	0.55317	474	0.77851	.	.	.	.	.	.	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	0.005539	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.011364	0.08333	950.83	33	chr1	47033289	.	G	A	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.865;SOR=0.752	GT:AD:DP:GQ:PL	0/1:35,34:69:99:961,0,788	5	0	1	0
chr1	47765943	47765945	TGG	-	exonic	TRABD2B	.	nonframeshift deletion	TRABD2B:NM_001194986:exon7:c.1511_1513del:p.T504del	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0011	0	0	0	0	0.0003	0	0.0016	0.0001358	21	154602	rs368316283	0.0003	0.0003	0.0003	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	6.326e-05	0	4.995e-05	0	0	0	0.0001	0.0003	0.0022	0.0001	0.0001	5.143e-05	0.0002	0.0027	7.09e-05	5.747e-05	0.0016	0.0013	0	0	0	0	0	0	0	5.884e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	494.79	36	chr1	47765942	.	ATGG	A	494.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.49;ReadPosRankSum=-1.371;SOR=0.941	GT:AD:DP:GQ:PL	0/1:9,13:22:99:505,0,339	5	0	1	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V,USP1:NM_001017416:exon9:c.A1996G:p.I666V,USP1:NM_003368:exon9:c.A1996G:p.I666V	.	427	1043	51	1	0	53	0.0247779	.	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease 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	1	0	1	0	0.021148	0.005051	0.025815	0.052632	0.050000	0.034483	0.012195	0.003788	0.1667	2954.04	38	chr1	62450619	.	A	G	2954.04	.	AC=2;AF=0.167;AN=12;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.57;SOR=0.739	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2974,264,0	5	1	0	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	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	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.1667	2291.06	34	chr1	69994621	.	A	G	2291.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.64;DP=313;ExcessHet=0.4139;FS=2.728;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.62;SOR=0.492	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1149,0,1374	4	0	2	0
chr1	72282401	72282401	G	C	exonic	NEGR1	.	nonsynonymous SNV	NEGR1:NM_173808:exon1:c.C94G:p.L32V	.	396	1122	4	0	0	4	0.00177936	.	.	.	719069	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0059	0.00219649	0.0070	0.0013	0.0034	0	0.0077	0.0111	0.0033	6.056e-05	0.0067852	1049	154602	rs142674139	0.0081	0.0081	0.0084	0.0078	0.0096	0.0080	0.0080	0.0094	0.0093	0.0012	0.0034	0.0090	0	0.0067	0.0007	0.0096	0.0075	4.637e-05	0.0060	0.0060	0.0062	0.0058	0.0094	0.0057	0.0056	0.0088	0.0086	0.0016	0.0011	0.0056	0.0110	0	0.0060	0	0.0094	0.0081	0.0004	0.523	0.07187	T	0.643	0.06903	T	0.0	0.02946	B	0.001	0.04355	B	0.000092	0.51296	D	0.076675	0.886928	0.35868	D	0	0.06538	N	0.72	0.50976	T	0.02	0.06739	N	0.134	0.13055	-1.0067	0.27943	T	0.097	0.36341	T	10	0.0052229166	0.00114	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.5704792730370059	0.56975	0.42636690805	0.43014	0.651688337326	0.60225	T	0.029	0.20732	T	-0.467292	0.00884	T	-0.436048	0.29251	T	0.0269341953036603	0.01535	T	0.777122	0.41012	T	0.15724838	0.35443	0.09689135	0.23042	0.15724838	0.35442	0.09689135	0.23041	-3.873	0.21898	T	.	.	0.081	0.08417	B	.	.	3.118929	0.42097	21.5	0.95430367588307052	0.26922	0.82123	0.41400	D	AEFDBHCI	0.718253	0.66951	D	-0.215174593125788	0.32510	1.834254	0.0184616864487738	0.40572	2.423506	0.999999998619901	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.56214	0.19341	0	.	.	5.25	5.25	0.73169	3.572000	0.53593	8.410000	0.77125	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.329	0.82830	898	0.25240	.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	602.83	36	chr1	72282401	.	G	C	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.086;SOR=0.719	GT:AD:DP:GQ:PL	0/1:20,27:47:99:613,0,446	5	0	1	0
chr1	74471799	74471799	C	G	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.G1727C:p.S576T,LRRC53:NM_001382280:exon5:c.G1823C:p.S608T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139464246671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.63	0.53088	T	.	.	.	0.221	0.24758	.	.	.	.	.	.	.	0.107166946	0.19893	T	0.013946	0.33731	T	.	.	.	.	0.499535901811	0.49588	9.041923518263546E-4	0.00083	.	.	.	.	.	0.001552	0.00995	T	-0.314957	0.07318	T	-0.69019	0.06378	T	.	.	.	0.306369	0.05889	T	0.033310097	0.03523	0.107358806	0.25844	0.033310097	0.03523	0.107358806	0.25843	-4.022	0.24132	T	.	.	0.085	0.10304	B	.	.	1.258816	0.16566	12.62	0.56817624096389596	0.05634	0.16652	0.19487	N	AEFHI	0.082861	0.16782	N	.	.	.	.	.	.	2.665299846439E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	-0.921	0.09939	0.564000	0.23265	0.342000	0.17391	-0.257000	0.07002	0.218000	0.24513	0.001000	0.17328	0.699000	0.34110	0.0:0.3979:0.1308:0.4713	6.009	0.18794	811	0.42639	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1702.83	74	chr1	74471799	.	C	G	1702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.676;DP=571;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.881;SOR=0.712	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1713,0,2244	5	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	61.07	61	chr1	85158755	.	A	G	61.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.192;DP=351;ExcessHet=0.4139;FS=48.934;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-1.361;SOR=5.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,10:44:68:.:.:68,0,925:.	4	0	2	0
chr1	89933291	89933291	G	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G223A:p.V75I,LRRC8D:NM_018103:exon3:c.G223A:p.V75I	.	424	1097	1	0	0	1	0.000455581	.	.	.	3288080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.005869410284	7.7e-05	.	0.0002	0	8.672e-05	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200937607	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0018	0	0	0	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	9.147e-05	7.703e-05	0.0001	8.286e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0.0005	0	0.272	0.20532	T	0.474	0.12993	T	0.0	0.02946	B	0.002	0.06944	B	0.831594	0.09102	N	0.920454	1	0.08975	N	0	0.06538	N	1.49	0.44461	T	-0.04	0.12472	N	0.016	0.00717	-0.9715	0.36883	T	0.015	0.05801	T	9	0.01427424	0.00301	T	0.005869	0.15281	T	0.054	0.15330	.	.	0.187035705434	0.18338	0.06505639114673414	0.06444	0.470340502162	0.46312	0.284429430962	0.08118	T	0.012107	0.10698	T	-0.481868	0.00721	T	-0.629622	0.10443	T	0.010870267637074	0.00155	T	0.518948	0.18281	T	0.08038302	0.18417	0.036254894	0.03036	0.08038302	0.18416	0.036254894	0.03036	-3.566	0.17367	T	.	.	0.068	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212456	0.03027	0.463	0.86747476219819053	0.16745	0.14602	0.18489	N	AEFDBHI	0.099741	0.20071	N	-1.01206696687564	0.08353	0.3913383	-0.978333237273347	0.10273	0.5163077	0.999993936372159	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-0.289	0.12214	0.355000	0.19902	0.288000	0.16841	0.676000	0.76740	0.510000	0.27033	0.002000	0.18203	0.236000	0.22896	0.4096:0.1104:0.3544:0.1256	2.257	0.03810	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2195.83	35	chr1	89933291	.	G	A	2195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.436;DP=333;ExcessHet=0;FS=2.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.348;SOR=0.944	GT:AD:DP:GQ:PL	0/1:74,77:151:99:2206,0,2089	5	0	1	0
chr1	92032507	92032507	T	G	exonic	EPHX4	.	nonsynonymous SNV	EPHX4:NM_173567:exon2:c.T234G:p.D78E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00814658442103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	0.03382	T	0.733	0.05109	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.049690	0.896823	0.36077	D	0.125	0.08623	N	0.21	0.59983	T	-0.23	0.10656	N	0.17	0.18103	-0.9949	0.31326	T	0.040	0.17106	T	10	0.10015711	0.18221	T	0.008147	0.21598	T	0.202	0.48754	0.383	0.40134	0.463586170655	0.45986	0.4765394040386533	0.47573	0.239194311658	0.26471	0.878940403461	0.93817	D	0.020256	0.15985	T	-0.21438	0.18766	T	-0.545718	0.17740	T	0.225054413080215	0.21713	T	0.649135	0.25986	T	0.080345646	0.18405	0.08508056	0.19619	0.080345646	0.18405	0.08508056	0.19618	-3.89	0.22152	T	.	.	0.125	0.26263	B	.	.	1.580180	0.20222	14.65	0.9621252192477785	0.29060	0.69406	0.34175	D	AEFBI	0.147878	0.27164	N	-0.66410329648015	0.17050	0.8741075	-0.508498356791521	0.21922	1.188217	0.997131475477204	0.35307	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	-0.191	0.12601	0.211000	0.17268	0.045000	0.13922	0.665000	0.62972	0.997000	0.40164	0.962000	0.29361	0.992000	0.67800	0.0:0.3855:0.0:0.6145	11.260	0.48308	857	0.34089	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	596.83	34	chr1	92032507	.	T	G	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.608;DP=224;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.61;SOR=0.551	GT:AD:DP:GQ:PL	0/1:30,27:57:99:607,0,771	5	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	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	.	.	.	.	.	.	.	.	0.081	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1091.96	47	chr1	99884396	.	T	C	1091.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.345;DP=458;ExcessHet=3.1439;FS=166.15;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.591;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,14:68:99:0|1:99884396_T_C:131,0,1711:99884396	2	0	4	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	482.03	48	chr1	99884400	.	T	C	482.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.255;DP=427;ExcessHet=1.383;FS=229.354;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.338;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,14:66:99:0|1:99884396_T_C:137,0,1676:99884396	3	0	3	0
chr1	100442953	100442953	T	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319210:exon7:c.T476A:p.F159Y,CDC14A:NM_001319211:exon7:c.T302A:p.F101Y,CDC14A:NM_003672:exon7:c.T476A:p.F159Y,CDC14A:NM_033312:exon7:c.T476A:p.F159Y,CDC14A:NM_033313:exon7:c.T476A:p.F159Y	Deafness, autosomal recessive 105, Autosomal recessive	547	974	1	0	0	1	0.000513084	.	.	.	1509908	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00821643375541	.	0.000199681	0.0002	0	0	0	0	1.504e-05	0	0.0013	0.0001488	23	154602	rs568592855	6.611e-05	6.772e-05	2.88e-05	0.0001	0.0011	5.531e-05	5.141e-05	0.0009	0.0008	0	0	0	0	0	0.0002	9.059e-07	3.33e-05	0.0011	3.94e-05	3.937e-05	1.285e-05	6.712e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.024	0.49117	D	0.087	0.40747	T	0.272	0.31812	B	0.328	0.42011	B	0.000000	0.84330	D	0.047968	0.999446	0.47080	D	0.87	0.21467	L	0.86	0.46777	T	-1.45	0.36787	N	0.676	0.68516	-0.9984	0.30367	T	0.083	0.32499	T	10	0.0467633	0.03908	T	0.008216	0.21776	T	0.118	0.32913	0.461	0.52916	0.769345538358	0.76723	0.5256763967195963	0.52491	0.291335797318	0.31540	0.79609143734	0.81368	T	0.079676	0.36185	T	-0.354835	0.04430	T	-0.323006	0.42243	T	0.12013620952803	0.14443	T	0.868613	0.61581	D	0.42097184	0.62156	0.17335014	0.39656	0.42097184	0.62157	0.17335014	0.39655	-9.911	0.73510	D	0.3273558377150697	0.42547	0.549	0.72050	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.204389	0.63475	24.6	0.9734151507716059	0.33476	0.93472	0.58309	D	AEBI	0.658055	0.62947	D	0.116882341056006	0.47251	2.953394	0.271187248044604	0.53865	3.553387	0.998278892337374	0.36679	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.25	5.25	0.73169	5.790000	0.68684	7.827000	0.69967	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.961	0.57857	252	0.90114	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1459.83	33	chr1	100442953	.	T	A	1459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.006;DP=285;ExcessHet=0;FS=1.546;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.039;SOR=0.516	GT:AD:DP:GQ:PL	0/1:49,60:109:99:1470,0,1215	5	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	552.06	35	chr1	112913901	.	C	G	552.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.084;DP=376;ExcessHet=0.4139;FS=63.697;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=1.74;SOR=6.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13:52:99:0|1:112913900_A_G:282,0,1424:112913900	4	0	2	0
chr1	120816692	120816692	A	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1450T:p.N484Y	.	489	1032	1	0	0	1	0.000484262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399900446	2.367e-05	2.391e-05	1.415e-05	3.302e-05	6.521e-05	1.621e-05	1.389e-05	2.118e-05	1.799e-05	6.521e-05	0	0	0	0	0	3.045e-05	0	0	5.837e-05	6.199e-05	6.719e-05	4.877e-05	0.0002	2.206e-05	1.438e-05	3.094e-05	1.28e-05	0.0002	0	0	0	0	0	0	4.26e-05	0.0008	0	.	.	.	0.013	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.26	0.31027	-1.0576	0.12362	T	0.022	0.09375	T	9	0.15087426	0.28528	T	4.97E-4	0.00153	T	.	.	.	.	0.236278675362	0.23226	0.025965051372981777	0.02547	.	.	.	.	.	.	.	.	-0.124328	0.32417	T	-0.416365	0.31492	T	0.636818528175354	0.37902	D	0.910209	0.79065	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.50444	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.126409	0.15127	11.61	0.97463737299655195	0.34095	0.00482	0.02293	N	AEBI	0.057047	0.10596	N	-0.494765697417219	0.22251	1.186837	-0.827430153347124	0.13832	0.7196404	0.0906476229524158	0.16114	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.811	-0.724	0.10613	0.564000	0.23265	-5.371000	0.01744	0.101000	0.17621	0.001000	0.13787	0.000000	0.08366	0.366000	0.26021	0.5709:0.4291:0.0:0.0	3.474	0.07144	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	47	chr1	120816692	.	A	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.247;DP=241;ExcessHet=0;FS=7.443;MLEAC=1;MLEAF=0.083;MQ=37.32;MQRankSum=-0.92;QD=12.75;ReadPosRankSum=-1.135;SOR=0.05	GT:AD:DP:GQ:PL	0/1:21,16:37:99:482,0,678	5	0	1	0
chr1	145892821	145892821	T	C	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon26:c.A3052G:p.R1018G,ITGA10:NM_001303040:exon27:c.A3088G:p.R1030G,ITGA10:NM_003637:exon30:c.A3481G:p.R1161G	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75496347	0.0057	0.0058	0.0058	0.0057	0.0068	0.0056	0.0056	0.0067	0.0066	0.0009	0.0058	0.0049	0	0.0005	0.0016	0.0068	0.0059	0.0002	0.0041	0.0041	0.0045	0.0038	0.0080	0.0039	0.0038	0.0069	0.0064	0.0012	0	0.0080	0.0032	0.0002	0.0002	0	0.0062	0.0095	0	0.337	0.13175	T	0.351	0.17425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	0.57261	T	-0.8	0.22078	N	0.186	0.22228	.	.	.	.	.	.	.	0.01892227	0.00417	T	.	.	.	.	.	.	.	.	.	0.7888511935892639	0.78837	.	.	.	.	.	0.079895	0.36236	T	.	.	.	.	.	.	.	.	.	0.715628	0.32820	T	.	.	.	.	.	.	.	.	-2.33	0.04722	T	.	.	0.069	0.06433	B	.;.	.;.	1.383632	0.17953	13.46	.	.	.	.	.	.	0.249568	0.36977	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545000	0.22976	1.837000	0.29159	-0.155000	0.11859	0.640000	0.28085	0.335000	0.24393	0.812000	0.38265	.	.	.	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	558.83	33	chr1	145892821	.	T	C	558.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.369;DP=232;ExcessHet=0;FS=1.119;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.764;SOR=0.882	GT:AD:DP:GQ:PL	0/1:23,25:48:99:569,0,596	5	0	1	0
chr1	146989596	146989596	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon31:c.G3421C:p.E1141Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00019479305758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1376410348	4.874e-06	5.616e-05	5.553e-06	4.191e-06	0.0001	2.03e-06	1.3e-06	4.137e-05	2.41e-05	0.0001	0	0	0	0	0	1.837e-06	1.683e-05	0	0.0001	0.0008	0.0001	0.0001	0.0004	8.172e-05	6.728e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.09	0.06854	-0.9071	0.47203	T	0.004	0.01365	T	6	0.09196934	0.16154	T	2.74E-4	0.00015	T	.	.	.	.	0.117506650769	0.11410	0.005966176741918117	0.00565	.	.	.	.	.	.	.	.	-0.295149	0.09126	T	-0.661737	0.08150	T	0.0357395005678449	0.02936	T	0.955004	0.82846	D	0.059538495	0.12114	0.05857513	0.10846	0.059538495	0.12113	0.05857513	0.10846	-9.992	0.73864	D	.	.	0.168	0.38372	B	.;.	.;.	0.632620	0.10012	6.763	0.8201166342282673	0.13973	0.01224	0.04337	N	AEFI	0.032725	0.03749	N	-0.712481410423978	0.15671	0.7917754	-0.929845150791823	0.11392	0.5800693	1.5734709534102E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.725	0.725	0.17395	-1.001000	0.03800	-1.149000	0.06186	.	.	0.000000	0.06391	0.000000	0.08366	.	.	0.0:0.0:1.0:0.0	4.807	0.12693	783	0.47268	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.83	37	chr1	146989596	.	G	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.359;DP=705;ExcessHet=0;FS=3.728;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-0.955;QD=0.27;ReadPosRankSum=0.378;SOR=1.263	GT:AD:DP:GQ:PL	0/1:158,17:175:58:58,0,4825	5	0	1	0
chr1	148590774	148590774	G	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.C761T:p.A254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457500340	0.0041	0.0067	0.0043	0.0038	0.0100	0.0039	0.0039	0.0090	0.0086	0.0007	0.0016	0.0008	0.0100	0.0056	0	0.0043	0.0035	0.0018	0.0040	0.0055	0.0037	0.0043	0.0163	0.0036	0.0034	0.0127	0.0114	0.0008	0.0161	0.0016	0.0038	0.0163	0.0100	0	0.0042	0.0055	0.0042	.	.	.	0.03	0.58089	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.13	0.02865	T	.	.	.	0.143	0.15469	.	.	.	.	.	.	.	0.08741337	0.14955	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634137	0.24845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.39203	B	.;.;.;.;.	.;.;.;.;.	1.220223	0.16140	12.34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.450000	0.06877	-4.653000	0.02050	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	43.97	15	chr1	148590774	.	G	A	43.97	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.1;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=23.79;MQRankSum=-1.016;QD=4.89;ReadPosRankSum=1.28;SOR=0.283	GT:AD:DP:GQ:PL	0/1:6,3:9:54:54,0,145	5	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:215,97:312:99:2050,0,5883	0	0	6	0
chr1	150560149	150560149	C	G	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon19:c.C3178G:p.R1060G,ADAMTSL4:NM_019032:exon19:c.C3178G:p.R1060G,ADAMTSL4:NM_001288607:exon20:c.C3061G:p.R1021G,ADAMTSL4:NM_001288608:exon20:c.C3247G:p.R1083G	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1490	31	1	0	33	0.0109525	.	.	.	862249	Ectopia_lentis_2,_isolated,_autosomal_recessive|not_provided|ADAMTSL4-related_disorder|Ectopia_lentis_et_pupillae	MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MedGen:C3661900|.|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	0.0152506501591	7.7e-05	0.00119808	0.0015	9.636e-05	0.0003	0	0	0.0003	0.0033	0.0098	0.0012678	196	154602	rs145169593	0.0008	0.0008	0.0005	0.0011	0.0100	0.0007	0.0007	0.0095	0.0092	8.961e-05	0.0004	0	0	0	0.0062	0.0001	0.0011	0.0100	0.0004	0.0004	0.0003	0.0005	0.0075	0.0003	0.0003	0.0055	0.0049	0	0	0.0004	0	0	0	0.0068	0.0002	0	0.0075	0.333	0.25664	T	0.348	0.17585	T	0.983	0.60381	D	0.81	0.58608	P	.	.	.	.	0.983778	0.41101	D	1.04	0.26193	L	0.8	0.48769	T	-1.37	0.33998	N	0.475	0.51048	-1.0525	0.13709	T	0.093	0.35390	T	9	0.009818703	0.00220	T	0.015251	0.35873	T	0.147	0.38986	.	.	0.747301130288	0.74502	0.4603589343015068	0.45953	0.626178110683	0.56761	0.498900681734	0.38675	T	0.005225	0.04667	T	-0.386707	0.02824	T	-0.321005	0.42465	T	0.0347608342809581	0.02768	T	0.840116	0.51512	T	0.41304556	0.61626	0.22383976	0.47276	0.45617345	0.64432	0.2130679	0.45801	-6.825	0.52996	T	0.3514189723817876	0.44859	0.310	0.53876	B	.;.;.	.;.;.	4.078678	0.60652	24.2	0.99735045718022863	0.83047	0.59621	0.30966	D	ALL	0.444913	0.50161	N	0.410278366563522	0.61986	4.407526	0.46643986756593	0.65781	4.867134	1.0	0.98316	0.789315	0.99827	0	0.374146	0.05931	1	0.768056	0.98339	0	0.607083	0.38531	0	.	.	5.26	5.26	0.73479	3.305000	0.51580	4.858000	0.45442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9072:0.0:0.0928	9.898	0.40501	114	0.95383	PLAC|PLAC;.;PLAC|PLAC	.	.	.	.	.	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	0.004028	0.005051	0.002717	0.002924	0.000000	0.008621	0.000000	0.011364	0.08333	1298.83	34	chr1	150560149	.	C	G	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=271;ExcessHet=0;FS=3.851;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.179;SOR=0.539	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1309,0,999	5	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,41:358:99:0|1:152214821_T_A:752,0,13066:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,41:358:99:0|1:152214821_T_A:752,0,13066:152214821	1	0	5	0
chr1	152827545	152827545	C	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.C73T:p.P25S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00157505293741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368179553	1.368e-06	1.368e-06	0	2.75e-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	6.597e-06	6.563e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.431	0.13673	T	0.069	0.23796	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	2.26	0.64354	M	2.65	0.12676	T	-4.0	0.74051	D	0.296	0.33469	-0.9805	0.34886	T	0.015	0.06282	T	9	0.07128036	0.10485	T	0.001575	0.02497	T	0.041	0.10877	0.098	0.01383	0.278968121808	0.27521	0.026031069712198877	0.02554	0.00670744513641	0.00592	.	.	.	0.159107	0.50241	T	-0.457232	0.01023	T	-0.71303	0.05141	T	0.0536590367710425	0.06132	T	.	.	.	0.21382007	0.43771	0.19145024	0.42604	0.21382007	0.43771	0.19145024	0.42603	-6.828	0.52767	T	.	.	0.079	0.07177	B	.	.	1.001579	0.13799	10.35	0.43940269376689228	0.03343	0.02598	0.07164	N	AEFBI	0.023995	0.01418	N	-0.895831716723264	0.10941	0.5254026	-0.995972326243457	0.09876	0.4939077	1.59684473988367E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	1.47	0.21832	0.545000	0.22976	.	.	-0.192000	0.09343	0.001000	0.13787	0.797000	0.26915	0.033000	0.13494	0.0:0.6263:0.2222:0.1515	4.382	0.10731	761	0.50382	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1787.83	33	chr1	152827545	.	C	T	1787.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.741;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.487;SOR=0.707	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1798,0,1814	5	0	1	0
chr1	156070201	156070201	C	T	exonic	RAB25	.	nonsynonymous SNV	RAB25:NM_020387:exon5:c.C556T:p.R186W	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0688338015831	.	.	2.486e-05	0	0	0	0	2.999e-05	0	6.057e-05	1.94e-05	3	154602	rs772732409	1.642e-05	1.71e-05	1.497e-05	1.788e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	1.079e-05	4.967e-05	3.478e-05	6.575e-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	0.008	0.58626	D	0.017	0.60337	D	0.989	0.62824	D	0.183	0.35961	B	0.000054	0.53742	D	0.129423	0.766256	0.34097	D	0	0.06538	N	-1.35	0.80035	T	-2.11	0.48020	N	0.291	0.32921	-0.5668	0.66142	T	0.156	0.48790	T	10	0.32161665	0.49522	T	0.068834	0.70561	D	0.389	0.70521	0.368	0.37687	0.959469821936	0.95903	0.456457641551155	0.45563	0.536578971132	0.50984	0.521682858467	0.41863	T	0.291144	0.66390	T	-0.0275019	0.47780	T	-0.180427	0.56483	T	0.849288940429688	0.50104	D	0.868313	0.57032	D	0.13505277	0.31357	0.11271636	0.27198	0.13505277	0.31357	0.11271636	0.27197	-7.712	0.59091	D	.	.	0.195	0.41557	B	.	.	4.320303	0.66120	24.9	0.99839630231474452	0.92057	0.69372	0.34162	D	AEFDGBI	0.485593	0.52512	N	0.250539555377327	0.53664	3.53446	0.386157796717141	0.60711	4.261768	0.999999997568066	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.505526	0.08623	0	.	.	5.97	5.97	0.96935	2.428000	0.44406	3.912000	0.40415	0.599000	0.40250	0.983000	0.35670	0.999000	0.35428	0.845000	0.39915	0.0:1.0:0.0:0.0	15.924	0.79384	330	0.86467	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	561.83	40	chr1	156070201	.	C	T	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.576;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=-1.553;SOR=0.446	GT:AD:DP:GQ:PL	0/1:8,20:28:99:572,0,174	5	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	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	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.08333	593.83	37	chr1	156244810	.	G	A	593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.96;DP=230;ExcessHet=0;FS=2.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.11;SOR=1.171	GT:AD:DP:GQ:PL	0/1:32,24:56:99:604,0,822	5	0	1	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	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	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.08333	368.83	37	chr1	156244850	.	C	A	368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.049;DP=212;ExcessHet=0;FS=7.569;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.43;SOR=2.007	GT:AD:DP:GQ:PL	0/1:22,14:36:99:379,0,636	5	0	1	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	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	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.08333	1065.83	35	chr1	156266009	.	G	A	1065.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.137;DP=275;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.569;SOR=0.468	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1076,0,1246	5	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	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	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.08333	507.83	35	chr1	156581456	.	G	A	507.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=222;ExcessHet=0;FS=8.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.306;SOR=1.981	GT:AD:DP:GQ:PL	0/1:24,19:43:99:518,0,577	5	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q,NTRK1:NM_001007792:exon17:c.G2231A:p.R744Q,NTRK1:NM_002529:exon17:c.G2339A:p.R780Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	0	1487	35	0	0	35	0.0116318	.	.	YES	237215	not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|NTRK1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.000000	0.004076	0.002941	0.000000	0.008621	0.012346	0.007576	0.08333	1091.83	33	chr1	156881590	.	G	A	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.52;DP=245;ExcessHet=0;FS=1.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.934;SOR=0.87	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1102,0,717	5	0	1	0
chr1	159928983	159928983	G	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon19:c.C2405T:p.A802V,IGSF9:NM_020789:exon19:c.C2357T:p.A786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0153512286331	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757839323	2.196e-06	4.788e-06	0	4.481e-06	7.797e-05	5.9e-07	1.6e-07	2.067e-05	1.073e-05	0	0	0	7.797e-05	0	0	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	1.0	0.01954	T	0.344	0.17804	T	0.001	0.07471	B	0.001	0.04355	B	0.722749	0.09921	N	0.820858	0.999324	0.21358	N	0.975	0.24501	L	-0.03	0.63077	T	0.19	0.04947	N	0.034	0.00942	-0.9826	0.34398	T	0.028	0.11795	T	9	0.024261355	0.00661	T	0.015351	0.36031	T	0.022	0.04323	0.166	0.07071	0.179529687257	0.17594	0.24269001128756612	0.24183	0.249200713937	0.27491	0.459253311157	0.33207	T	0.022293	0.17210	T	-0.295751	0.09066	T	-0.662602	0.08092	T	0.0561301745474339	0.06546	T	0.69773	0.32735	T	0.031275	0.02939	0.043288086	0.05352	0.031275	0.02939	0.043288086	0.05352	-4.338	0.31356	T	.	.	0.135	0.29394	B	.;.	.;.	1.006884	0.13856	10.41	0.74749627592371604	0.10813	0.06602	0.12617	N	AEFDBCI	0.066476	0.13019	N	-0.96381084319417	0.09385	0.44395	-0.817443594508986	0.14073	0.7334436	0.999958314652282	0.48110	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.15	0.568	0.16518	0.214000	0.17331	1.271000	0.25291	-0.122000	0.13826	0.000000	0.06391	0.999000	0.35428	0.989000	0.64315	0.5657:0.0:0.4343:0.0	6.703	0.22425	867	0.32089	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	528.83	35	chr1	159928983	.	G	A	528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=225;ExcessHet=0;FS=1.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.03;SOR=0.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,22:39:99:0|1:159928983_G_A:539,0,616:159928983	5	0	1	0
chr1	160093853	160093853	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.G761A:p.R254H,IGSF8:NM_052868:exon3:c.G761A:p.R254H,IGSF8:NM_001206665:exon4:c.G761A:p.R254H	.	419	1101	2	0	0	2	0.000907441	.	.	.	3440905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00706530786897	.	.	4.153e-05	0	0.0002	0	0	3.023e-05	0	6.083e-05	3.88e-05	6	154602	rs201207100	0.0001	0.0001	9.937e-05	0.0001	0.0040	9.115e-05	8.645e-05	0.0027	0.0023	5.974e-05	0.0002	0	5.038e-05	0	0.0040	8.273e-05	0.0003	5.797e-05	9.845e-05	9.841e-05	0.0001	5.369e-05	0.0002	6e-05	4.875e-05	7.909e-05	5.994e-05	4.81e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0002	0.011	0.65419	D	0.011	0.64786	D	0.998	0.73220	D	0.813	0.58748	P	0.014453	0.28529	N	0.275715	0.875146	0.28143	N	2.125	0.59049	M	1.95	0.22474	T	-3.87	0.73378	D	0.138	0.14054	-1.1318	0.01698	T	0.042	0.18035	T	10	0.28769523	0.46352	T	0.007065	0.18704	T	0.097	0.27909	0.608	0.74063	0.312608672186	0.30878	0.551521984368609	0.55078	0.174648314704	0.19666	0.582167744637	0.50391	T	0.306101	0.67832	T	-0.337525	0.05561	T	-0.467562	0.25779	T	0.228464126586914	0.21878	T	0.854215	0.54045	D	0.16555387	0.36834	0.11824875	0.28544	0.16555387	0.36834	0.11824875	0.28543	-7.447	0.57236	T	.	.	0.097	0.17016	B	.;.;.;.	.;.;.;.	3.799295	0.54735	23.5	0.99934641761874454	0.99535	0.61654	0.31548	D	AEFGBI	0.284011	0.39698	N	0.300523293577007	0.56176	3.781951	0.252383977029347	0.52785	3.451048	0.999796586669163	0.43153	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	0.153000	0.16140	2.669000	0.33934	0.549000	0.26987	0.885000	0.31090	1.000000	0.68203	0.821000	0.38685	0.0:0.8915:0.0:0.1085	8.796	0.34042	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0.008056	0.000000	0.012228	0.011696	0.000000	0.008621	0.000000	0.007576	0.08333	1834.83	35	chr1	160093853	.	C	T	1834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.262;DP=320;ExcessHet=0;FS=0.618;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.267;SOR=0.629	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1845,0,1887	5	0	1	0
chr1	160814668	160814668	C	G	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon4:c.C979G:p.L327V,LY9:NM_001261457:exon4:c.C979G:p.L327V,LY9:NM_002348:exon4:c.C979G:p.L327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00780225613857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.148	0.32675	T	0.565	0.38434	P	0.168	0.35187	B	.	.	.	.	1	0.19781	N	2.105	0.58435	M	4.99	0.01332	T	-1.31	0.32791	N	0.251	0.28381	-0.9602	0.39143	T	0.002	0.00738	T	9	0.3034878	0.47880	T	0.007802	0.20694	T	0.077	0.22490	0.765	0.89293	0.362960570912	0.35913	0.2969194223447648	0.29604	0.288080729046	0.31214	0.468927681446	0.34532	T	0.131074	0.46036	T	-0.247119	0.14455	T	-0.592746	0.13430	T	0.125655334788244	0.14974	T	0.69773	0.30785	T	0.05889332	0.11905	0.059227996	0.11079	0.05889332	0.11904	0.059227996	0.11079	-6.557	0.50724	T	.	.	0.231	0.53853	B	.;.;.	.;.;.	0.408742	0.07796	4.487	0.94092201542682086	0.24249	0.06167	0.12150	N	AEFBI	0.054156	0.09822	N	-0.693063958534015	0.16217	0.8243406	-0.860818690267734	0.13027	0.6735551	0.116244380021963	0.16774	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.71	-1.1	0.09367	0.418000	0.20950	-0.027000	0.12846	0.511000	0.23309	0.193000	0.24225	0.000000	0.08366	0.008000	0.08271	0.0:0.4269:0.3414:0.2317	4.535	0.11428	789	0.46346	.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1538.83	33	chr1	160814668	.	C	G	1538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.561;DP=268;ExcessHet=0;FS=1.686;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.299;SOR=0.51	GT:AD:DP:GQ:PL	0/1:38,59:97:99:1549,0,1064	5	0	1	0
chr1	160814725	160814725	G	C	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon4:c.G1036C:p.V346L,LY9:NM_001261457:exon4:c.G1036C:p.V346L,LY9:NM_002348:exon4:c.G1036C:p.V346L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00355870816869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.18	0.29442	T	0.998	0.73220	D	0.875	0.62107	P	.	.	.	.	1	0.26686	N	1.445	0.36358	L	4.77	0.01563	T	-1.21	0.30762	N	0.048	0.01999	-0.9215	0.45348	T	0.005	0.01833	T	9	0.118591905	0.22424	T	0.003559	0.08123	T	0.033	0.08068	0.299	0.26522	0.421799068777	0.41798	0.24698399885667363	0.24612	0.110903085958	0.12519	0.367550075054	0.20480	T	0.074607	0.34979	T	-0.29014	0.09622	T	-0.654542	0.08639	T	0.299094378948212	0.24966	T	0.612539	0.23323	T	0.11548949	0.27252	0.07929572	0.17837	0.11548949	0.27252	0.07929572	0.17837	-3.483	0.16306	T	.	.	0.189	0.53610	B	.;.;.	.;.;.	1.220704	0.16146	12.35	0.98101636371529988	0.38278	0.03090	0.08013	N	AEFBI	0.049220	0.08481	N	-0.26466237409408	0.30521	1.702695	-0.424751165271994	0.24273	1.328305	0.667498397874539	0.22338	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.61	2.61	0.30255	0.002000	0.12962	0.012000	0.13456	0.575000	0.29119	0.001000	0.13787	0.000000	0.08366	0.872000	0.41544	0.0:0.0:1.0:0.0	8.884	0.34551	789	0.46346	.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1088.83	33	chr1	160814725	.	G	C	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=243;ExcessHet=0;FS=3.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.626;SOR=0.344	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1099,0,932	5	0	1	0
chr1	160951222	160951222	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G262A:p.G88S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.100203296444	7.7e-05	.	6.728e-05	0	0.0003	0	0	4.544e-05	0	6.742e-05	8.41e-05	13	154602	rs372343513	0.0001	0.0001	9.807e-05	0.0001	0.0028	0.0001	9.421e-05	0.0017	0.0014	0.0002	0.0003	0	0	0	0.0028	0.0001	0.0002	2.322e-05	9.198e-05	9.192e-05	6.424e-05	0.0001	0.0001	5.527e-05	4.364e-05	7.909e-05	5.994e-05	7.239e-05	0	6.543e-05	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000089	0.51296	U	0.000000	0.986607	0.40458	D	3.7	0.94612	H	-3.74	0.95493	D	-5.98	0.89334	D	0.422	0.46180	1.086	0.99090	D	0.944	0.98180	D	10	0.5548988	0.64461	D	0.100203	0.77234	D	0.664	0.87479	.	.	0.980989907939	0.98078	0.7444064330230729	0.74386	0.640380169956	0.57670	0.412240087986	0.26766	T	0.305734	0.67797	T	0.0226717	0.54743	T	0.0965112	0.76675	D	0.953439772129059	0.64026	D	0.975902	0.91565	D	0.7419951	0.80406	0.6168804	0.77695	0.7419951	0.80408	0.6168804	0.77696	-10.033	0.74109	D	.	.	0.130	0.27821	B	.	.	3.882987	0.56447	23.7	0.99872384114935675	0.94989	0.85255	0.44372	D	AEFGBI	0.653705	0.62665	D	0.70002163070414	0.79631	7.119138	0.513766573211031	0.68913	5.28645	0.999997437113171	0.74766	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.584449	0.35598	0	.	.	3.85	3.85	0.43556	5.371000	0.65903	1.346000	0.25772	0.469000	0.21855	0.997000	0.40164	0.002000	0.18203	0.685000	0.33688	0.0:1.0:0.0:0.0	13.638	0.61707	620	0.66037	Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1045.83	37	chr1	160951222	.	C	T	1045.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.945;DP=297;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.286;SOR=0.475	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1056,0,1626	5	0	1	0
chr1	161550029	161550029	T	G	exonic	FCGR3A	.	nonsynonymous SNV	FCGR3A:NM_001127592:exon1:c.A23C:p.Q8P,FCGR3A:NM_001329122:exon1:c.A23C:p.Q8P	Immunodeficiency 20, Autosomal recessive	440	1080	1	1	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373969655	0.0001	0.0001	9.231e-05	0.0001	0.0030	9.66e-05	8.754e-05	0.0016	0.0012	0.0004	0	0	0	0	0.0030	0.0001	0.0002	4.333e-05	0.0001	0.0001	7.717e-05	0.0001	0.0002	6.515e-05	5.326e-05	7.884e-05	5.583e-05	0.0002	0	0	0	0	0	0.0068	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08793667	0.15094	T	.	.	.	.	.	.	.	.	.	0.0439502151765448	0.04339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211579	0.02577	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36295	B	.	.	0.284045	0.06609	3.101	0.52954010824862607	0.04846	0.03659	0.08916	N	AEFBI	.	.	.	.	.	.	.	.	.	0.991703901675172	0.32580	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.0476178	0.06944	2.8	-2.68	0.05686	-0.116000	0.10697	0.054000	0.14040	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3956:0.257:0.0:0.3474	2.296	0.03896	884	0.28482	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	575.83	38	chr1	161550029	.	T	G	575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.685;DP=199;ExcessHet=0;FS=1.7;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.354;SOR=0.356	GT:AD:DP:GQ:PL	0/1:14,21:35:99:586,0,378	5	0	1	0
chr1	161713326	161713326	G	C	exonic	FCRLA	.	nonsynonymous SNV	FCRLA:NM_001184871:exon2:c.G321C:p.L107F,FCRLA:NM_001184872:exon3:c.G606C:p.L202F,FCRLA:NM_001184873:exon3:c.G474C:p.L158F,FCRLA:NM_001184867:exon4:c.G759C:p.L253F,FCRLA:NM_001184870:exon4:c.G624C:p.L208F,FCRLA:NM_001366196:exon4:c.G741C:p.L247F,FCRLA:NM_032738:exon5:c.G1026C:p.L342F,FCRLA:NM_001184866:exon6:c.G1044C:p.L348F,FCRLA:NM_001366195:exon6:c.G1041C:p.L347F	.	431	1087	2	0	2	4	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.00807320772606	.	0.000399361	5.77e-05	0.0002	0	0	0	5.998e-05	0.0011	0	7.12e-05	11	154602	rs61741808	0.0001	0.0001	0.0001	0.0001	0.0049	0.0001	0.0001	0.0034	0.0030	0.0011	0	0	0	0	0.0049	8.453e-05	0.0003	4.637e-05	9.192e-05	9.186e-05	8.995e-05	9.399e-05	9.627e-05	5.524e-05	4.362e-05	3.762e-05	2.575e-05	9.627e-05	0	0	0	0	0	0.0102	8.82e-05	0.0005	0	0.031	0.91255	D	0.064	0.92824	T	0.999	0.77913	D	0.996	0.84481	D	0.012259	0.29238	N	0.161766	0.500607	0.32736	D	.	.	.	0.82	0.48142	T	-2.54	0.71276	D	0.235	0.57690	-0.9725	0.36670	T	0.119	0.41756	T	10	0.11985159	0.22689	T	0.008073	0.21393	T	0.164	0.42212	0.431	0.48007	0.670406207196	0.66762	0.20217940115995628	0.20134	0.233751173166	0.25910	0.44554656744	0.31335	T	0.157044	0.49946	T	-0.257088	0.13242	T	-0.32763	0.41731	T	0.178225486053185	0.19122	T	0.939506	0.77228	D	.	.	.	.	.	.	.	.	-7.304	0.62962	T	.	.	0.218	0.66609	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.918943	0.57202	23.8	0.99825604785057309	0.90764	0.51983	0.29024	D	AEFBCI	0.273170	0.38863	N	0.188206529169569	0.50632	3.251426	0.125577043004354	0.45861	2.841888	0.988955268683057	0.31679	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.23	1.12	0.19700	1.157000	0.31335	2.973000	0.35807	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0899:0.3178:0.4285:0.1637	3.507	0.07253	782	0.47442	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	595.83	35	chr1	161713326	.	G	C	595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.185;DP=262;ExcessHet=0;FS=3.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-2.139;SOR=1.317	GT:AD:DP:GQ:PL	0/1:28,24:52:99:606,0,731	5	0	1	0
chr1	161802078	161802078	A	G	exonic	ATF6	.	nonsynonymous SNV	ATF6:NM_007348:exon7:c.A715G:p.T239A	Achromatopsia 7, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	696222	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0048	0.00339457	0.0012	0.0125	0.0009	0	0	5.996e-05	0	0	0.0011319	175	154602	rs141611945	0.0005	0.0005	0.0006	0.0005	0.0141	0.0005	0.0005	0.0131	0.0127	0.0141	0.0009	0	0	0	0.0064	0.0001	0.0013	6.956e-05	0.0038	0.0038	0.0037	0.0039	0.0129	0.0035	0.0034	0.0119	0.0116	0.0129	0	0.0016	0	0	0	0.0068	0.0002	0.0005	0.0004	0.993	0.01954	T	0.809	0.03956	T	0.0	0.02946	B	0.0	0.01387	B	0.061030	0.22203	N	0.506921	1	0.08975	N	0.42	0.12520	N	2.52	0.14160	T	-0.33	0.12472	N	0.066	0.03841	-0.9241	0.44985	T	0.004	0.01365	T	9	0.0016222596	0.00019	T	.	.	.	0.112	0.31546	.	.	0.238096912614	0.23440	0.2167497064635149	0.21590	0.140013901372	0.15777	0.377585858107	0.21914	T	0.117807	0.43816	T	-0.728851	0.00024	T	-0.807396	0.01724	T	0.00125526118529369	0.00012	T	0.610139	0.23115	T	0.043769546	0.06881	0.021143945	0.00176	0.043769546	0.06881	0.021143945	0.00176	-2.869	0.08837	T	0.12182327393400345	0.11604	0.052	0.00225	B	.	.	-0.600035	0.01572	0.104	0.71636375560198007	0.09696	0.03229	0.08242	N	AEFDGBHCI	0.027367	0.02223	N	-1.17083178183141	0.05446	0.248284	-1.11862708938391	0.07344	0.3568749	0.991914852032848	0.32653	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.75	-2.3	0.06399	-0.971000	0.03916	-1.764000	0.04769	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4251:0.1335:0.4415:0.0	6.879	0.23342	652	0.62785	.	.	.	.	.	.	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	1	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.017241	0.000000	0.003788	0.08333	905.83	36	chr1	161802078	.	A	G	905.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.75;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.48;SOR=0.728	GT:AD:DP:GQ:PL	0/1:39,33:72:99:916,0,1145	5	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4922.72	72	chr1	175160810	.	C	*	4922.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.618;DP=357;ExcessHet=1.383;FS=6.122;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.966;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,25:53:99:1|0:175160809_TC_T:2037,1059,1144:175160809	3	0	3	0
chr1	182602441	182602441	C	G	exonic	RGS16	.	nonsynonymous SNV	RGS16:NM_002928:exon3:c.G199C:p.D67H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.011416370923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.02	0.58613	D	0.993	0.65571	D	0.935	0.67021	D	0.002065	0.37317	N	0.341396	0.997634	0.44054	D	1.93	0.51437	L	1.4	0.33630	T	-3.54	0.68651	D	0.623	0.63798	-0.9259	0.44730	T	0.147	0.47147	T	10	0.79482603	0.78976	D	0.011416	0.29027	T	0.304	0.62510	0.62	0.75461	0.784716907932	0.78272	0.45996413251447826	0.45914	0.678872318326	0.59909	0.536081373692	0.43892	T	0.354301	0.72147	T	-0.0535651	0.43903	T	-0.314719	0.43150	T	0.978610932826996	0.72414	D	0.89841	0.64469	D	0.5317975	0.68933	0.40164545	0.64668	0.5317975	0.68934	0.40164545	0.64668	-8.29	0.63028	D	.	.	0.32	0.54507	B	.	.	4.178404	0.62878	24.5	0.99464095194328572	0.65944	0.92406	0.55638	D	AEFDBCI	0.399415	0.47470	N	0.428266174644054	0.62983	4.523449	0.377084827246897	0.60155	4.200028	0.999998974178425	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.23	3.3	0.36912	3.934000	0.56265	4.835000	0.45233	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.0:0.7681:0.148:0.0839	9.348	0.37285	809	0.43032	RGS domain|RGS domain|RGS domain|RGS domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	586.83	35	chr1	182602441	.	C	G	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.342;DP=224;ExcessHet=0;FS=4.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.02;SOR=0.574	GT:AD:DP:GQ:PL	0/1:23,26:49:99:597,0,511	5	0	1	0
chr1	200909309	200909309	C	T	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon8:c.C871T:p.R291C,INAVA:NM_001367289:exon8:c.C871T:p.R291C,INAVA:NM_001367290:exon8:c.C334T:p.R112C,INAVA:NM_018265:exon8:c.C1126T:p.R376C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0891935409217	.	0.000599042	8.541e-05	0	8.76e-05	0	0	0.0001	0	0	9.06e-05	14	154602	rs201070005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.97e-05	6.715e-05	0.0003	0.0001	0	0.0002	0.0002	0.0002	1.162e-05	0.0001	0.0001	0.0001	0.0001	0.0001	7.085e-05	5.742e-05	7.91e-05	5.995e-05	4.809e-05	0	6.533e-05	0.0012	0	0	0	0.0001	0	0	0.0	0.91255	D	0.003	0.76473	D	0.997	0.70673	D	0.765	0.56630	P	0.212695	0.16327	N	0.578700	0.999984	0.18198	N	.	.	.	0.49	0.55775	T	-5.28	0.84246	D	0.393	0.43417	-0.7297	0.58979	T	0.258	0.62811	T	10	0.07256979	0.10849	T	0.089194	0.75279	D	0.227	0.52620	.	.	0.213499824651	0.20940	0.2756103164107242	0.27474	0.636961766817	0.57451	.	.	.	0.161744	0.50612	T	-0.125553	0.32219	T	-0.138689	0.60232	T	0.292702329116665	0.24702	T	0.718628	0.33152	T	0.13361841	0.31072	0.13434383	0.32193	0.13361841	0.31072	0.13434383	0.32192	-6.196	0.47890	T	0.7088998042079206	0.78885	0.093	0.17657	B	.;.	.;.	3.374707	0.46651	22.3	0.99902194250537457	0.97350	0.02861	0.07626	N	AEFDGBHCI	0.122736	0.23801	N	0.142229430182477	0.48444	3.056645	-0.00045789086644496	0.39695	2.357571	0.999999998307114	0.74766	0.706548	0.73137	0	0.296712	0.05252	1	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	0.528000	0.22711	1.062000	0.23729	-0.190000	0.09434	0.003000	0.16062	0.000000	0.08366	0.277000	0.23942	0.1826:0.8174:0.0:0.0	11.252	0.48266	793	0.45818	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	732.83	34	chr1	200909309	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.16;SOR=0.787	GT:AD:DP:GQ:PL	0/1:32,27:59:99:743,0,764	5	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T,RNPEP:NM_001319184:exon10:c.G1018A:p.A340T,RNPEP:NM_001319182:exon11:c.G1495A:p.A499T,RNPEP:NM_020216:exon11:c.G1888A:p.A630T	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-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	0.006546	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.003788	0.1667	1131.06	71	chr1	202005651	.	G	A	1131.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.93;DP=271;ExcessHet=0.4139;FS=11.589;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.42;SOR=0.467	GT:AD:DP:GQ:PL	0/1:39,22:61:99:528,0,1122	4	0	2	0
chr1	202318611	202318611	G	A	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017404:exon16:c.G1891A:p.A631T,LGR6:NM_001017403:exon18:c.G2308A:p.A770T,LGR6:NM_021636:exon18:c.G2152A:p.A718T	.	407	1109	6	0	0	6	0.00269784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0218890172682	0.0015	0.000798722	0.0021	0.0003	0.0014	0	0.0021	0.0027	0.0011	0.0027	0.0020051	310	154602	rs145532673	0.0024	0.0024	0.0024	0.0025	0.0038	0.0024	0.0023	0.0026	0.0026	0.0003	0.0013	7.653e-05	0	0.0024	0.0038	0.0027	0.0027	0.0023	0.0018	0.0018	0.0018	0.0018	0.0031	0.0016	0.0016	0.0023	0.0022	0.0003	0.0033	0.0027	0.0003	0.0002	0.0020	0	0.0026	0.0009	0.0031	0.075	0.38633	T	0.2	0.27591	T	0.357	0.43734	B	0.106	0.31143	B	0.000037	0.55875	N	0.121353	0.990747	0.41226	D	1.245	0.31408	L	1.45	0.32482	T	-1.3	0.32590	N	0.165	0.25253	-1.0796	0.07426	T	0.033	0.14377	T	10	0.012434334	0.00267	T	0.021889	0.44718	T	0.051	0.14325	.	.	0.541962755691	0.53850	0.5826384079163838	0.58192	0.312136574515	0.33514	0.573620736599	0.49189	T	0.141106	0.47600	T	-0.486854	0.00676	T	-0.476412	0.24828	T	0.0235194981501836	0.01086	T	0.753825	0.40231	T	0.0836811	0.19335	0.14448987	0.34301	0.0836811	0.19335	0.14448987	0.34301	-4.442	0.30122	T	.	.	0.079	0.11654	B	.;.;.	.;.;.	2.738356	0.35860	20.1	0.99649778343120643	0.77192	0.84184	0.43267	D	AEFDBCI	0.301882	0.41028	N	-0.196225258331606	0.33291	1.887065	-0.0804998199495162	0.36196	2.103464	0.999285886400626	0.39007	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.19	3.28	0.36691	1.906000	0.39518	1.247000	0.25145	0.614000	0.49286	0.992000	0.37556	0.082000	0.22400	0.999000	0.91618	0.0859:0.0:0.7492:0.1649	7.450	0.26402	517	0.74620	.;.;.	.	.	.	.	.	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	0.005539	0.005051	0.005435	0.017544	0.000000	0.000000	0.000000	0.000000	0.08333	1157.83	76	chr1	202318611	.	G	A	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.848;DP=403;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.455;SOR=0.99	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1168,0,1150	5	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	804.23	124	chr1	204444146	.	C	T	804.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,29:108:99:.:.:198,0,1753:.	3	0	3	0
chr1	206911922	206911922	G	A	exonic	FCMR	.	nonsynonymous SNV	FCMR:NM_001142473:exon3:c.C182T:p.P61L,FCMR:NM_001193338:exon4:c.C518T:p.P173L,FCMR:NM_005449:exon4:c.C518T:p.P173L	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0241055582181	0.0006	0.000399361	0.0006	9.664e-05	0.0010	0	0.0002	0.0007	0	0.0007	0.0006145	95	154602	rs144958422	0.0007	0.0007	0.0006	0.0007	0.0073	0.0006	0.0006	0.0056	0.0050	0.0001	0.0010	0.0011	0	3.748e-05	0.0073	0.0006	0.0010	0.0008	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0006	0.0012	0	0	0.0034	0.0007	0.0014	0.0008	0.02	0.91255	D	0.056	0.46632	T	1.0	0.90584	D	0.991	0.79672	D	0.003389	0.35013	N	0.132210	1	0.08975	N	1.625	0.41611	L	0.49	0.55775	T	-3.27	0.94223	D	0.192	0.28498	-0.8616	0.51147	T	0.270	0.64151	T	10	0.017623752	0.00377	T	0.024106	0.47094	T	0.050	0.13987	.	.	0.363751660372	0.35992	0.3299808392580684	0.32911	0.234433461644	0.25982	0.279175370932	0.07378	T	0.320306	0.69151	T	-0.441828	0.01261	T	-0.478919	0.24560	T	0.026259128374593	0.01441	T	0.59504	0.22051	T	0.06414482	0.13578	0.078261994	0.17513	0.06414482	0.13578	0.078261994	0.17513	-3.69	0.20178	T	.	.	0.073	0.14797	B	.;.;.	.;.;.	2.137016	0.27209	17.38	0.99474811926237883	0.66525	0.10631	0.16083	N	AEFBCI	0.107686	0.21446	N	-0.461723158308825	0.23343	1.25294	-0.59061235307761	0.19737	1.060297	0.999820969204193	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.33	2.34	0.28071	0.343000	0.19686	1.636000	0.27766	-0.123000	0.13640	0.001000	0.13787	0.367000	0.24549	0.034000	0.13613	0.1179:0.2314:0.6507:0.0	5.200	0.14582	770	0.49152	.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	626.83	33	chr1	206911922	.	G	A	626.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=255;ExcessHet=0;FS=4.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.217;SOR=0.897	GT:AD:DP:GQ:PL	0/1:49,26:75:99:637,0,1323	5	0	1	0
chr1	207022397	207022397	G	A	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_001083924:exon3:c.C629T:p.T210I,C1orf116:NM_023938:exon4:c.C1367T:p.T456I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0109262251469	.	.	8.315e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777316156	1.368e-06	2.052e-06	2.722e-06	0	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.044	0.49663	D	.	.	.	.	.	.	0.391066	0.13254	N	0.737239	1	0.08975	N	.	.	.	2.89	0.10196	T	-2.48	0.59545	N	0.058	0.04668	-1.0881	0.05856	T	0.059	0.24686	T	10	0.12933347	0.24608	T	0.010926	0.28020	T	0.118	0.32913	0.224	0.14813	0.218112801441	0.21410	0.4021477112554493	0.40130	0.0892704095681	0.10086	.	.	.	.	.	.	-0.284704	0.10176	T	-0.646734	0.09184	T	0.309453204647344	0.25392	T	0.473853	0.14122	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.21315	B	.;.	.;.	1.223963	0.16181	12.37	0.99637336976608415	0.76449	0.20029	0.20888	N	AEFDGBHCI	0.119706	0.23352	N	-0.0528910054971275	0.39473	2.328352	-0.22317078364266	0.30708	1.73131	0.999999840021339	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.28	4.36	0.51643	1.004000	0.29423	2.774000	0.34690	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.038000	0.14061	0.0:0.3426:0.6573:0.0	12.697	0.56378	779	0.47767	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1338.83	34	chr1	207022397	.	G	A	1338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.171;DP=306;ExcessHet=0;FS=1.911;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.655;SOR=0.981	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1349,0,746	5	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	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	1	0	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.1667	3142.06	54	chr1	208217558	.	G	T	3142.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.19;DP=454;ExcessHet=0.4139;FS=0.466;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.316;SOR=0.749	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1391,0,1762	4	0	2	0
chr1	213997170	213997170	A	G	exonic	PROX1	.	nonsynonymous SNV	PROX1:NM_001270616:exon2:c.A635G:p.K212R,PROX1:NM_002763:exon2:c.A635G:p.K212R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00556567882117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361003644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.02739	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	D	0.106328	0.985155	0.40244	D	-0.625	0.02162	N	1.98	0.21865	T	0.44	0.04694	N	0.259	0.29774	-1.0168	0.24755	T	0.017	0.07045	T	10	0.07039079	0.10234	T	0.005566	0.14349	T	0.078	0.22779	0.325	0.30711	0.370276754211	0.36643	0.026934105297130313	0.02643	0.529839768189	0.50541	0.703624904156	0.67668	T	0.10681	0.41847	T	-0.24474	0.14750	T	-0.589328	0.13724	T	0.677699148654938	0.39684	D	0.649135	0.54490	T	0.06470547	0.13756	0.11642356	0.28106	0.06470547	0.13755	0.11642356	0.28105	-3.123	0.11563	T	.	.	0.086	0.13032	B	.;.;.;.;.	.;.;.;.;.	2.701110	0.35283	19.86	0.89545492775903046	0.18889	0.76697	0.37637	D	AEFDBIJ	0.224804	0.34898	N	-0.519363847715215	0.21454	1.138707	-0.249045169021462	0.29804	1.672819	0.999982043923448	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	6.07	3.77	0.42499	5.238000	0.65190	8.110000	0.76588	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8643:0.0:0.1357:0.0	10.140	0.41902	929	0.16858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	674.83	33	chr1	213997170	.	A	G	674.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=222;ExcessHet=0;FS=4.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.301;SOR=1.315	GT:AD:DP:GQ:PL	0/1:25,23:48:99:685,0,722	5	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V	Stromme syndrome, Autosomal recessive	439	1053	29	1	0	31	0.0145063	.	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	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	0.018127	0.000000	0.025815	0.020468	0.000000	0.025862	0.012195	0.018939	0.08333	878.83	42	chr1	214641961	.	C	T	878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.405;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.057;SOR=0.66	GT:AD:DP:GQ:PL	0/1:57,38:95:99:889,0,1597	5	0	1	0
chr1	226548972	226548972	G	A	exonic	STUM	.	nonsynonymous SNV	STUM:NM_001003665:exon1:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.27366352865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000914116	1.987e-05	2.189e-05	1.89e-05	2.087e-05	0.0002	1.361e-05	1.166e-05	0.0001	9.808e-05	0	0	0	0	0	0	9.404e-06	3.563e-05	0.0002	1.974e-05	1.969e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.321e-05	3.04e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.039	0.42487	D	0.274	0.22084	T	0.665	0.41045	P	0.043	0.24256	B	0.046115	0.23471	U	0.381114	0.974743	0.25474	N	0.895	0.22405	L	.	.	.	0.33	0.05810	N	0.058	0.02964	-1.0543	0.13225	T	0.043	0.18368	T	9	0.12233883	0.23206	T	0.273664	0.89974	D	0.056	0.15993	0.214	0.13354	0.162503812791	0.15892	0.4443522825613562	0.44353	1.65484946215	0.89605	.	.	.	0.008346	0.07671	T	-0.115631	0.33841	T	-0.403872	0.32935	T	0.447811633348465	0.30717	T	0.710029	0.35555	T	0.13233054	0.30817	0.14967778	0.35332	0.13233054	0.30817	0.14967778	0.35331	-4.095	0.25216	T	.	.	0.116	0.23290	B	.;.	.;.	3.399881	0.47116	22.4	0.99740258230815948	0.83409	0.79484	0.39395	D	AEFDBI	0.206420	0.33268	N	-0.256954041739786	0.30826	1.722584	-0.223519670856919	0.30694	1.730505	0.999984257415544	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.507000	0.35365	9.042000	0.78618	0.308000	0.19071	0.998000	0.41325	1.000000	0.68203	0.657000	0.32885	0.0:0.0:1.0:0.0	9.806	0.39963	612	0.66786	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	568.83	38	chr1	226548972	.	G	A	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.851;DP=229;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.149;SOR=0.997	GT:AD:DP:GQ:PL	0/1:23,27:50:99:579,0,494	5	0	1	0
chr1	227921580	227921580	A	G	exonic	WNT9A	.	nonsynonymous SNV	WNT9A:NM_003395:exon4:c.T1036C:p.C346R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.638620067864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.055	0.97073	H	-1.73	0.83327	D	-10.81	0.99207	D	0.812	0.80767	0.890	0.95540	D	0.813	0.93708	D	10	0.98689985	0.99025	D	0.63862	0.96914	D	0.963	0.99463	0.884	0.97032	0.880152313689	0.87897	0.9668292686151266	0.96670	1.62735328857	0.89165	0.876611351967	0.93500	D	0.963497	0.99546	D	0.458027	0.92839	D	0.420148	0.92750	D	0.999973177909851	0.99958	D	0.930507	0.74278	D	0.9832024	0.99344	0.9747079	0.99653	0.9832024	0.99344	0.9747079	0.99653	-16.948	0.98867	D	.	.	0.999	0.98504	P	.	.	5.460092	0.91156	32	0.99738519408662973	0.83337	0.98607	0.84635	D	AEFBI	0.929173	0.91451	D	0.95498496373202	0.94181	12.56191	0.83447767563837	0.92079	11.22391	0.999999977796671	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.64	4.64	0.57399	9.219000	0.94313	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.378	0.60196	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	717.83	35	chr1	227921580	.	A	G	717.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.649;DP=227;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.79;SOR=0.856	GT:AD:DP:GQ:PL	0/1:24,31:55:99:728,0,567	5	0	1	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, 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	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.08333	796.83	33	chr1	229651283	.	G	A	796.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.634;DP=255;ExcessHet=0;FS=6.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.088;SOR=0.284	GT:AD:DP:GQ:PL	0/1:39,36:75:99:807,0,1013	5	0	1	0
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T	.	429	1057	36	0	0	36	0.0167442	.	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	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	0.014099	0.000000	0.005435	0.011696	0.000000	0.000000	0.033537	0.018939	0.08333	1336.83	34	chr1	230357055	.	C	T	1336.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.874;DP=271;ExcessHet=0;FS=4.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.85;SOR=0.379	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1347,0,1217	5	0	1	0
chr1	231229158	231229158	G	C	exonic	C1orf131	.	nonsynonymous SNV	C1orf131:NM_001300830:exon3:c.C499G:p.L167V,C1orf131:NM_152379:exon3:c.C502G:p.L168V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0494176760853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.53072	D	0.997	0.70673	D	0.921	0.65636	D	0.003229	0.35241	N	0.238221	0.872332	0.28186	N	2.71	0.79292	M	0.15	0.61089	T	-2.16	0.48850	N	0.301	0.40963	-0.6676	0.61937	T	0.318	0.68744	T	10	0.31371623	0.48819	T	0.049418	0.63802	D	0.211	0.50185	0.379	0.39482	0.717392553567	0.71491	0.2905371813386068	0.28966	0.330472847952	0.35125	.	.	.	0.110701	0.45577	T	-0.0119084	0.49997	T	-0.254882	0.49333	T	0.893218743147554	0.54441	D	0.835916	0.51943	T	0.08260974	0.19039	0.09484434	0.22467	0.08260974	0.19039	0.09484434	0.22466	-8.818	0.66518	D	.	.	0.34	0.55909	B	.;.;.	.;.;.	3.259968	0.44579	22.0	0.99764885016554272	0.85417	0.82994	0.42151	D	AEFBI	0.180810	0.30813	N	0.37994486735079	0.60335	4.221423	0.258579418952757	0.53139	3.484338	0.780695076776865	0.23837	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.26	2.2	0.26966	1.344000	0.33547	2.118000	0.30702	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.5152:0.0:0.4848:0.0	5.098	0.14077	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	193.83	14	chr1	231229158	.	G	C	193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.627;DP=106;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:7,7:14:99:204,0,220	5	0	1	0
chr1	233259267	233259267	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon5:c.G595A:p.A199T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0382886066469	.	0.00119808	0.0004	0	0	0	0	0	0	0.0028	0.0003428	53	154602	rs536548136	0.0001	0.0001	6.807e-05	0.0001	0.0017	9.116e-05	8.646e-05	0.0014	0.0014	0	0	0	0	0	0.0003	0	0.0001	0.0017	5.255e-05	5.249e-05	3.856e-05	6.716e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.009	0.57480	D	0.538	0.09829	T	0.682	0.41464	P	0.197	0.36707	B	.	.	.	.	1	0.20048	N	2.14	0.59869	M	-0.04	0.63240	T	-0.33	0.12472	N	0.025	0.00485	-1.0500	0.14397	T	0.124	0.42841	T	9	0.0052247643	0.00114	T	0.038289	0.58131	D	0.078	0.22779	0.155	0.05858	0.326345978581	0.32251	0.15437194677230776	0.15358	0.146899570786	0.16579	0.214713171124	0.01027	T	0.00482	0.04238	T	-0.52448	0.00414	T	-0.532013	0.19085	T	0.0280257321238064	0.01691	T	0.475952	0.14261	T	0.059647456	0.12149	0.09822815	0.23411	0.059647456	0.12148	0.09822815	0.23410	-3.242	0.13000	T	.	.	0.073	0.04847	B	.	.	0.979898	0.13573	10.10	0.97304793277920176	0.33299	0.11613	0.16749	N	AEFDBI	0.031379	0.03347	N	-0.67960611773576	0.16604	0.84742	-0.771071043251918	0.15206	0.7985316	0.30546758233953	0.19233	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.17	2.18	0.26813	0.236000	0.17745	0.274000	0.16691	0.596000	0.33519	0.035000	0.20724	0.005000	0.19230	0.513000	0.29313	0.1678:0.6707:0.1615:0.0	9.072	0.35661	899	0.25060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	936.83	35	chr1	233259267	.	C	T	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.553;DP=268;ExcessHet=0;FS=1.827;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=2.06;SOR=0.463	GT:AD:DP:GQ:PL	0/1:51,40:91:99:947,0,1520	5	0	1	0
chr1	235135681	235135681	C	T	exonic	RBM34	.	nonsynonymous SNV	RBM34:NM_001346738:exon10:c.G976A:p.G326S,RBM34:NM_015014:exon10:c.G979A:p.G327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0497858738654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759685290	3.42e-06	3.42e-06	0	6.875e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.799e-06	0	0	1.971e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.079	0.42436	T	0.941	0.52883	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-1.375	0.00634	N	-0.4	0.69287	T	-5.06	0.82764	D	0.539	0.56662	-0.8452	0.52297	T	0.179	0.52489	T	10	0.34870547	0.51779	T	0.049786	0.63962	D	0.265	0.57870	0.435	0.48664	0.891540137815	0.89047	0.6899129899221091	0.68931	0.380953399846	0.39459	0.525744497776	0.42435	T	0.174583	0.52386	T	0.0163631	0.53890	T	-0.214272	0.53286	T	0.987739861011505	0.78174	D	0.948405	0.80130	D	0.8506346	0.87383	0.74375767	0.84853	0.8506346	0.87384	0.74375767	0.84854	-9.57	0.71294	D	.	.	0.198	0.47944	B	.;.	.;.	3.853151	0.55833	23.7	0.99828350139390187	0.91026	0.94950	0.62896	D	AEFDBI	0.414831	0.48394	N	0.119104974508512	0.47356	2.962	0.179770635842478	0.48739	3.085889	0.999962319069359	0.48965	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	4.6	0.56512	4.143000	0.57817	1.761000	0.28554	0.599000	0.40250	0.998000	0.41325	0.926000	0.28431	0.515000	0.29359	0.0:0.9296:0.0:0.0704	14.579	0.67868	975	0.05339	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM34, RNA recognition motif 2;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM34, RNA recognition motif 2	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1990.83	34	chr1	235135681	.	C	T	1990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.927;DP=325;ExcessHet=0;FS=1.246;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.406;SOR=0.817	GT:AD:DP:GQ:PL	0/1:75,82:157:99:2001,0,1682	5	0	1	0
chr1	236038223	236038223	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon5:c.C1166T:p.T389M	.	417	1078	26	1	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.314043215454	0.0003	0.000599042	0.0009	0	8.696e-05	0.0001	0	0.0005	0.0033	0.0042	0.000718	111	154602	rs142155830	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0043	0.0038	0	0.0004	7.656e-05	2.521e-05	1.874e-05	0.0059	0.0002	0.0010	0.0042	0.0003	0.0003	0.0004	0.0003	0.0048	0.0003	0.0002	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999373	0.46831	D	2.125	0.59049	M	-2.3	0.87671	D	-4.43	0.77554	D	0.693	0.69825	0.660	0.92675	D	0.769	0.92139	D	10	0.036665767	0.01978	T	0.314043	0.91274	D	0.659	0.87234	.	.	0.954265860692	0.95378	0.7883054061803797	0.78782	0.740464818204	0.63234	0.451162755489	0.32103	T	0.563417	0.85424	D	-0.0926796	0.37632	T	0.0940882	0.76517	D	0.0978770405054092	0.12121	T	0.938406	0.76842	D	0.582062	0.71721	0.5065998	0.71483	0.582062	0.71722	0.5065998	0.71484	-10.476	0.79195	D	0.5665382804887262	0.63396	0.241	0.47492	B	.;.	.;.	5.039584	0.83867	28.2	0.99896537898111659	0.96971	0.98699	0.85733	D	AEFDBI	0.886460	0.81786	D	0.750540878720996	0.82940	7.888642	0.748985187248683	0.86081	8.776579	0.997538186573651	0.35727	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.279000	0.72647	9.848000	0.81969	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.180	0.93603	479	0.77495	.;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	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.08333	957.83	36	chr1	236038223	.	G	A	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=236;ExcessHet=0;FS=2.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.611;SOR=1.061	GT:AD:DP:GQ:PL	0/1:24,36:60:99:968,0,522	5	0	1	0
chr1	247323210	247323210	G	A	exonic	ZNF496	.	nonsynonymous SNV	ZNF496:NM_001329733:exon6:c.C595T:p.L199F,ZNF496:NM_032752:exon6:c.C595T:p.L199F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00158743056774	0.0002	.	0.0004	0.0002	8.649e-05	0	0.0008	0.0007	0	0	0.0003816	59	154602	rs201186610	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0	2.236e-05	0	0	0.0007	0	0.0005	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	7.237e-05	0.0022	0	0	0	0.0003	0	0.0004	0	0	0.198	0.20532	T	0.388	0.28300	T	0.002	0.09854	B	0.001	0.04355	B	0.666898	0.06013	N	1.222430	1	0.08975	N	1.905	0.50856	L	3.19	0.07353	T	-0.25	0.11008	N	0.169	0.17966	-0.9338	0.43575	T	0.012	0.04605	T	10	0.017545372	0.00375	T	0.001587	0.02548	T	0.024	0.04979	.	.	0.147330786459	0.14319	0.12303314856001939	0.12229	0.495246887071	0.48067	0.452861338854	0.32335	T	0.044578	0.26860	T	-0.567551	0.00229	T	-0.698991	0.05881	T	0.0124070422530836	0.00203	T	0.435556	0.12692	T	0.10653851	0.25190	0.051186644	0.08186	0.10653851	0.25190	0.051186644	0.08185	-4.561	0.31677	T	.	.	0.178	0.53480	B	.;.	.;.	1.850350	0.23505	16.04	0.72353643453333905	0.09943	0.09910	0.15557	N	AEFGBIJ	0.028473	0.02516	N	-0.950538778812732	0.09680	0.459221	-0.901085862157212	0.12069	0.6186554	0.90475401259835	0.26187	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.66	0.651	0.16989	0.353000	0.19868	.	.	0.672000	0.70159	0.420000	0.26330	1.000000	0.68203	0.879000	0.42020	0.2277:0.2005:0.5718:0.0	3.904	0.08676	912	0.21483	.;.	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	916.83	41	chr1	247323210	.	G	A	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.329;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=0.089;SOR=0.655	GT:AD:DP:GQ:PL	0/1:19,36:55:99:927,0,493	5	0	1	0
chr2	3695764	3695764	T	G	exonic	ALLC	.	nonsynonymous SNV	ALLC:NM_018436:exon8:c.T559G:p.W187G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.00388950677317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	-9.84	0.98700	D	0.81	0.80572	-0.0986	0.80130	T	0.458	0.78924	T	9	0.849365	0.84110	D	0.00389	0.09148	T	0.302	0.62290	.	.	0.159798565429	0.15598	0.7289546988876557	0.72839	0.453027064754	0.45001	0.512591540813	0.40585	T	.	.	.	0.219182	0.75696	D	0.0770626	0.75381	D	0.999643445014954	0.98300	D	0.580242	0.20999	T	0.8537932	0.87617	0.8245123	0.89829	0.8537932	0.87618	0.8245123	0.89829	-13.038	0.89520	D	.	.	0.496	0.64408	A	.	.	5.082527	0.84829	28.4	0.98270157421846704	0.39750	0.89083	0.49339	D	AEFBI	0.673207	0.63934	D	0.680761625756102	0.78372	6.858255	0.629337855820839	0.77081	6.610999	0.871773140554408	0.25432	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	4.192000	0.58176	7.440000	0.58865	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.409	0.60378	946	0.12043	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	634.83	40	chr2	3695764	.	T	G	634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.917;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.288;SOR=0.706	GT:AD:DP:GQ:PL	0/1:42,33:75:99:645,0,1137	5	0	1	0
chr2	17781904	17781904	C	T	exonic	GEN1	.	nonsynonymous SNV	GEN1:NM_001130009:exon14:c.C2692T:p.R898C,GEN1:NM_182625:exon14:c.C2692T:p.R898C	.	428	1092	2	0	0	2	0.000914913	.	.	.	1153906	GEN1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0068	0.00419329	0.0074	0.0014	0.0054	0	0.0036	0.0106	0.0048	0.0047	0.0075225	1163	154602	rs17315702	0.0094	0.0093	0.0096	0.0092	0.0109	0.0092	0.0092	0.0107	0.0106	0.0012	0.0052	0.0097	5.075e-05	0.0031	0.0011	0.0109	0.0083	0.0034	0.0065	0.0065	0.0072	0.0057	0.0105	0.0061	0.0060	0.0098	0.0096	0.0017	0.0526	0.0054	0.0087	0.0002	0.0024	0	0.0105	0.0052	0.0012	0.187	0.21385	T	0.19	0.28482	T	0.001	0.07471	B	0.0	0.01387	B	0.733397	0.09836	N	0.879991	0.537176	0.51308	D	0.455	0.12820	N	1.83	0.24841	T	0.31	0.04022	N	0.082	0.06059	-0.9976	0.30590	T	0.021	0.08917	T	10	0.0028971434	0.00046	T	.	.	.	0.059	0.16972	.	.	0.215869574891	0.21205	0.18330476624040817	0.18249	0.0361236122367	0.03815	0.201058283448	0.00488	T	0.001044	0.00572	T	-0.643387	0.00079	T	-0.687563	0.06531	T	0.0154174521615262	0.00345	T	0.659934	0.26896	T	0.0363039	0.04440	0.031369373	0.01715	0.0363039	0.04440	0.031369373	0.01715	-4.77	0.34240	T	.	.	0.049	0.00122	B	.;.	.;.	1.654125	0.21100	15.05	0.84260807559007933	0.15188	0.07501	0.13516	N	AEFBI	0.025823	0.01834	N	-0.911756296512048	0.10566	0.5055271	-0.785622471186283	0.14847	0.7779274	0.890209932703725	0.25830	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.94	-2.52	0.05978	-0.127000	0.10524	-0.509000	0.08757	-0.883000	0.02445	0.905000	0.31549	0.000000	0.08366	0.890000	0.42831	0.284:0.1804:0.15:0.3857	0.370	0.00351	573	0.70213	.;.	.	.	.	.	.	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	0.003525	0.020202	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	244.83	28	chr2	17781904	.	C	T	244.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=-1.736;SOR=0.509	GT:AD:DP:GQ:PL	0/1:27,12:39:99:255,0,630	5	0	1	0
chr2	20203917	20203917	G	C	exonic	SDC1	.	nonsynonymous SNV	SDC1:NM_002997:exon3:c.C523G:p.L175V,SDC1:NM_001006946:exon4:c.C523G:p.L175V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00520738785098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.507	0.10930	T	0.036	0.20732	B	0.039	0.23607	B	0.964668	0.08200	N	0.981979	1	0.08975	N	0	0.06538	N	2.3	0.30401	T	0.24	0.07882	N	0.054	0.02559	-0.9872	0.33298	T	0.046	0.19919	T	10	0.05969137	0.07214	T	0.005207	0.13279	T	0.006	0.00375	0.253	0.19223	0.458644561121	0.45486	0.07530770068259988	0.07466	0.283650765552	0.30797	0.237207591534	0.02544	T	0.260043	0.63138	T	-0.275051	0.11201	T	-0.632868	0.10198	T	0.0511413045270789	0.05699	T	0.379762	0.09155	T	0.06004949	0.12276	0.03213326	0.01904	0.06004949	0.12275	0.03213326	0.01903	-3.843	0.21448	T	.	.	0.068	0.16099	B	.;.;.	.;.;.	0.165397	0.05554	2.011	0.84660574864739757	0.15422	0.08645	0.14545	N	AEFDBHCI	0.277183	0.39175	N	-0.951603092477396	0.09657	0.4579847	-1.01194295143138	0.09522	0.4742112	0.99999375667365	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.65	0.792	0.17769	0.092000	0.14905	0.491000	0.18902	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.226:0.0:0.5706:0.2034	3.299	0.06566	673	0.60677	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	739.83	68	chr2	20203917	.	G	C	739.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.102;DP=282;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.192;SOR=0.34	GT:AD:DP:GQ:PL	0/1:43,31:74:99:750,0,1252	5	0	1	0
chr2	21004433	21004433	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon28:c.C11923T:p.H3975Y	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0034242563813	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs72654421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.116	0.36497	T	.	.	.	.	.	.	0.086080	0.02405	N	1.727610	1	0.08975	N	.	.	.	2.28	0.17271	T	-1.35	0.33598	N	0.194	0.21319	-0.9893	0.32778	T	0.032	0.13592	T	10	0.14436275	0.27396	T	0.003424	0.07694	T	0.017	0.02790	0.373	0.38503	0.413761986042	0.40994	0.28437148984938426	0.28350	0.0464376371656	0.05045	0.217641845345	0.01178	T	.	.	.	-0.314087	0.07393	T	-0.688941	0.06450	T	0.0476017619227516	0.05072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.	.	-0.373788	0.02312	0.245	0.54337055914361676	0.05117	0.14154	0.18252	N	AEFBHCI	0.361236	0.45092	N	-1.09992708687777	0.06645	0.3064818	-1.14231400982179	0.06907	0.3340723	0.923397858610384	0.26742	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.99	-2.18	0.06643	0.077000	0.14593	0.296000	0.16925	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1525:0.3949:0.1462:0.3064	2.547	0.04452	860	0.33753	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	6161.83	36	chr2	21004433	.	G	A	6161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.319;DP=608;ExcessHet=0;FS=3.215;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.631;SOR=0.902	GT:AD:DP:GQ:PL	0/1:193,233:426:99:6172,0,4861	5	0	1	0
chr2	21015426	21015426	T	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.A3452T:p.D1151V	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0360778425126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001754	0.38106	N	0.185608	0.999983	0.54805	D	.	.	.	5.61	0.00817	T	-4.88	0.81350	D	0.57	0.59308	-0.9994	0.30087	T	0.011	0.04088	T	10	0.57473344	0.65516	D	0.036078	0.56759	D	0.173	0.43840	0.382	0.39970	0.711251163156	0.70872	0.7737126403196114	0.77321	0.216162367491	0.24139	0.489556789398	0.37376	T	.	.	.	0.0170405	0.53981	T	-0.213299	0.53378	T	0.993809521198273	0.84761	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.51245	B	.	.	4.479748	0.69888	25.4	0.99394329326700681	0.62474	0.90572	0.51859	D	AEFBHCI	0.656827	0.62868	D	0.661902922606318	0.77139	6.617975	0.643202539206934	0.78107	6.809898	0.999976091003429	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.49	5.49	0.81022	3.518000	0.53208	7.837000	0.70361	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0879:0.0:0.9121	9.245	0.36679	863	0.32847	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2172.83	33	chr2	21015426	.	T	A	2172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.007;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.452;SOR=0.733	GT:AD:DP:GQ:PL	0/1:64,76:140:99:2183,0,1676	5	0	1	0
chr2	27378988	27378988	C	T	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon2:c.G92A:p.R31Q,ZNF513:NM_144631:exon3:c.G278A:p.R93Q	.	1	1520	1	0	0	1	0.000328839	.	.	.	826179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0052233319558	.	.	8.841e-06	0	0	0	0	0	0	6.161e-05	6.5e-06	1	154602	rs746787789	5.203e-05	5.267e-05	5.313e-05	5.092e-05	0.0003	4.261e-05	3.891e-05	6.107e-05	3.837e-05	0	6.712e-05	0	2.519e-05	0	0.0003	5.396e-05	0.0001	1.16e-05	3.287e-05	3.283e-05	3.855e-05	2.692e-05	6.542e-05	1.261e-05	7.98e-06	8.01e-06	3e-06	4.831e-05	0	6.542e-05	0	0	0	0	2.941e-05	0	0	0.208	0.19782	T	0.325	0.18846	T	0.034	0.20480	B	0.002	0.06944	B	0.000547	0.43413	D	0.000000	0.977518	0.27412	N	1.04	0.26193	L	3.31	0.57261	T	0.12	0.11728	N	0.222	0.28264	-1.0107	0.26698	T	0.085	0.33157	T	10	0.11656731	0.21993	T	0.005223	0.13310	T	0.067	0.19503	0.402	0.43245	0.326837869879	0.32287	0.2878293002058797	0.28695	0.440906568431	0.44089	0.576672434807	0.49616	T	0.010916	0.10480	T	-0.203063	0.20362	T	-0.353615	0.38790	T	0.0996546298265457	0.12319	T	0.783822	0.47089	T	0.12597741	0.29519	0.08680787	0.20137	0.12597741	0.29518	0.08680787	0.20136	-4.543	0.34345	T	.	.	0.096	0.28174	B	.;.;.	.;.;.	3.058908	0.41073	21.3	0.98613274313653232	0.43664	0.88783	0.48878	D	AEFDBCI	0.190476	0.31770	N	-0.489626434047236	0.22421	1.197038	-0.306217017754397	0.27897	1.551339	0.9999998382826	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.48	3.6	0.40374	0.584000	0.23565	2.723000	0.34327	0.524000	0.24156	0.991000	0.37257	1.000000	0.68203	0.997000	0.79791	0.0:0.9106:0.0:0.0894	11.289	0.48474	335	0.86220	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	741.83	38	chr2	27378988	.	C	T	741.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.338;SOR=0.562	GT:AD:DP:GQ:PL	0/1:27,27:54:99:752,0,641	5	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S,RASGRP3:NM_001139488:exon10:c.G844A:p.G282S,RASGRP3:NM_001349976:exon10:c.G844A:p.G282S,RASGRP3:NM_001349979:exon10:c.G844A:p.G282S,RASGRP3:NM_001349981:exon10:c.G844A:p.G282S,RASGRP3:NM_001349977:exon11:c.G844A:p.G282S,RASGRP3:NM_001349978:exon11:c.G844A:p.G282S,RASGRP3:NM_001349980:exon11:c.G844A:p.G282S,RASGRP3:NM_170672:exon11:c.G844A:p.G282S,RASGRP3:NM_001349975:exon12:c.G844A:p.G282S	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	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	0.010574	0.005051	0.006793	0.002924	0.000000	0.000000	0.015244	0.034091	0.08333	1077.83	34	chr2	33527173	.	G	A	1077.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.75;DP=254;ExcessHet=0;FS=2.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.953;SOR=1.001	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1088,0,822	5	0	1	0
chr2	36590947	36590947	T	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon2:c.A331G:p.T111A,FEZ2:NM_005102:exon2:c.A331G:p.T111A	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.010509188015	0.0004	0.000798722	0.0006	0.0001	0.0005	0	0	0.0009	0.0011	0.0005	0.0005563	86	154602	rs35730082	0.0004	0.0004	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	8.965e-05	0.0004	0.0059	0	1.873e-05	0.0014	0.0003	0.0008	0.0005	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0008	0.0007	9.616e-05	0	0.0012	0.0060	0	0	0	0.0004	0	0.0004	0.55	0.08634	T	0.561	0.09425	T	0.025	0.19245	B	0.027	0.21085	B	0.000000	0.84330	D	0.045834	0.99995	0.81001	D	0.975	0.24501	L	1.54	0.30133	T	-0.31	0.17210	N	0.462	0.49874	-1.0736	0.08639	T	0.031	0.13504	T	10	0.010371029	0.00231	T	0.010509	0.27131	T	0.107	0.30369	.	.	0.358948522604	0.35510	0.3986791732631069	0.39782	0.0107736174043	0.00996	0.570650577545	0.48770	T	0.027897	0.20327	T	-0.416196	0.01810	T	-0.46802	0.25730	T	0.0277495847216039	0.01652	T	0.876412	0.59716	D	0.06638129	0.14278	0.050992623	0.08118	0.06638129	0.14278	0.050992623	0.08117	-4.191	0.27612	T	.	.	0.108	0.31228	B	.;.;.	.;.;.	3.072811	0.41311	21.3	0.97237376250993035	0.32978	0.92089	0.54920	D	AEFDBI	0.285882	0.39840	N	-0.381948378406331	0.26112	1.422629	-0.221632877063302	0.30762	1.734867	0.999998345303893	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.057000	0.57168	7.867000	0.71756	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0832:0.0:0.9168	8.879	0.34524	881	0.29269	.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	1406.83	33	chr2	36590947	.	T	C	1406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.381;DP=300;ExcessHet=0;FS=4.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.227;SOR=0.561	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1417,0,1801	5	0	1	0
chr2	38856392	38856392	T	C	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon7:c.A1351G:p.I451V,DHX57:NM_198963:exon7:c.A1657G:p.I553V	.	441	1076	4	1	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00860981231102	0.0008	0.000998403	0.0013	9.61e-05	8.643e-05	0	0.0002	0.0018	0.0011	0.0016	0.0011255	174	154602	rs201069292	0.0012	0.0012	0.0012	0.0013	0.0031	0.0012	0.0011	0.0020	0.0017	0.0002	0.0002	0.0060	0	0.0001	0.0031	0.0012	0.0016	0.0019	0.0008	0.0008	0.0007	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	9.622e-05	0	0.0002	0.0040	0	9.432e-05	0	0.0011	0.0009	0.0027	.	.	.	0.155	0.31936	T	0.747	0.43174	P	0.842	0.60272	P	0.000056	0.53742	D	0.000000	1	0.81001	D	1.82	0.47800	L	.	.	.	.	.	.	0.629	0.64308	-1.1441	0.01212	T	0.072	0.29227	T	10	0.014772087	0.00310	T	0.00861	0.22755	T	.	.	.	.	0.828523341224	0.82689	0.5502345028145653	0.54949	.	.	0.542066574097	0.44738	T	0.060663	0.31447	T	-0.149213	0.28435	T	-0.0117375	0.69572	D	0.0704552829265594	0.08714	T	0.861114	0.55479	D	0.098597	0.23259	0.09157891	0.21538	0.098597	0.23258	0.09157891	0.21538	-6.021	0.46455	T	.	.	0.100	0.17275	B	.	.	4.035380	0.59704	24.1	0.99908634457070256	0.97875	0.96716	0.70558	D	AEFDBHCIJ	0.874242	0.79702	D	0.638874315412597	0.75650	6.343723	0.617985615104166	0.76245	6.455772	0.999999999971167	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	7.818000	0.84740	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:0.0:1.0	15.636	0.76705	737	0.53483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	331.83	33	chr2	38856392	.	T	C	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.831;DP=207;ExcessHet=0;FS=2.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.638;SOR=1.371	GT:AD:DP:GQ:PL	0/1:22,17:39:99:342,0,543	5	0	1	0
chr2	54869270	54869270	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon14:c.A2141G:p.N714S	.	434	1085	3	0	0	3	0.00138058	.	.	.	2217834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.00370156023818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427957837	2.359e-05	2.257e-05	2.539e-05	2.174e-05	0.0009	1.682e-05	1.48e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.205e-05	3.444e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.074	0.34621	T	0.122	0.35710	T	0.021	0.18474	B	0.077	0.28532	B	0.434485	0.12707	U	0.507482	0.923906	0.36760	D	1.745	0.45235	L	1.38	0.34050	T	-2.87	0.60348	D	0.079	0.05414	-1.0052	0.28397	T	0.104	0.38094	T	10	0.14551088	0.27601	T	0.003702	0.08558	T	0.131	0.35738	.	.	0.308278614506	0.30437	0.1898812063745678	0.18906	0.145345323032	0.16423	0.504904568195	0.39511	T	0.199973	0.55742	T	-0.461864	0.00957	T	-0.664543	0.07964	T	0.442475020885468	0.30521	T	0.916408	0.70110	D	0.09868184	0.23278	0.15565109	0.36476	0.09868184	0.23278	0.15565109	0.36475	-6.096	0.47076	T	.	.	0.071	0.03736	B	.	.	1.902571	0.24163	16.29	0.99386935167251034	0.62157	0.94646	0.61848	D	AEFGI	0.443145	0.50058	N	-0.0253935565687547	0.40707	2.422168	0.11783101308293	0.45462	2.808854	0.999980352957904	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.17	5.03	0.67015	4.230000	0.58432	1.016000	0.23368	0.756000	0.94297	1.000000	0.71638	0.017000	0.20586	0.824000	0.38829	0.8656:0.0:0.1344:0.0	9.936	0.40719	319	0.87030	HELP	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	783.83	37	chr2	54869270	.	A	G	783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=274;ExcessHet=0;FS=2.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.8;SOR=1.036	GT:AD:DP:GQ:PL	0/1:57,32:89:99:794,0,1463	5	0	1	0
chr2	58163454	58163454	A	C	exonic	FANCL	.	nonsynonymous SNV	FANCL:NM_001114636:exon9:c.T770G:p.F257C,FANCL:NM_018062:exon9:c.T755G:p.F252C,FANCL:NM_001374615:exon10:c.T800G:p.F267C	Fanconi anemia, complementation group L, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	YES	221316	Fanconi_anemia|Fanconi_anemia_complementation_group_L|not_specified|FANCL-related_disorder	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	.	7.7e-05	0.00559105	0.0035	0.0002	0.0003	0	0	3.06e-05	0.0034	0.0250	0.0029948	463	154602	rs139801716	0.0015	0.0015	0.0008	0.0021	0.0229	0.0014	0.0014	0.0221	0.0217	5.991e-05	0	0	2.524e-05	0	0.0007	5.772e-05	0.0016	0.0229	0.0009	0.0009	0.0005	0.0013	0.0277	0.0008	0.0007	0.0238	0.0224	0	0	0.0002	0	0	0	0	2.949e-05	0.0005	0.0277	0.179	0.22053	T	0.18	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.000638	0.42799	N	0.312447	1	0.81001	D	-0.87	0.01450	N	1.0	0.41392	T	0.21	0.05035	N	0.326	0.36674	-1.0790	0.07543	T	0.032	0.13898	T	10	0.0059069097	0.00132	T	.	.	.	0.173	0.43840	.	.	0.222439326576	0.21863	0.40750687456925927	0.40666	0.00879722314409	0.00799	0.388291597366	0.23430	T	0.062859	0.32026	T	-0.489593	0.00653	T	-0.457789	0.26842	T	0.0144385045137046	0.00292	T	0.718628	0.33942	T	0.13463794	0.31275	0.055789348	0.09850	0.09627695	0.22673	0.07277512	0.15737	-0.789	0.00933	T	0.055221242578550184	0.01215	0.047	0.00148	B	.;.;.;.;.;.	.;.;.;.;.;.	1.692326	0.21561	15.25	0.83561083792610646	0.14793	0.20579	0.21093	N	AEFBI	0.103345	0.20707	N	-0.813964114447289	0.12953	0.6348265	-0.597891417315614	0.19547	1.049281	7.6425223206036E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.66	1.24	0.20416	0.199000	0.17037	0.683000	0.20697	-0.265000	0.06832	0.959000	0.33545	0.998000	0.33993	0.981000	0.58702	0.3974:0.2206:0.1282:0.2537	0.511	0.00556	758	0.50837	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;Fanconi anemia complex, subunit FancL, WD-repeat containing domain;Fanconi anemia complex, subunit FancL, WD-repeat containing 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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	320.83	33	chr2	58163454	.	A	C	320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.365;SOR=0.818	GT:AD:DP:GQ:PL	0/1:19,13:32:99:331,0,485	5	0	1	0
chr2	69520916	69520916	C	A	exonic	AAK1	.	nonsynonymous SNV	AAK1:NM_001371575:exon11:c.G1128T:p.Q376H,AAK1:NM_001371577:exon11:c.G1128T:p.Q376H,AAK1:NM_014911:exon11:c.G1128T:p.Q376H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0322980361312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.112	0.37037	T	0.996	0.68779	D	0.862	0.62418	P	0.000000	0.84330	D	0.054076	0.993089	0.41831	D	2.455	0.71248	M	1.54	0.77336	T	-2.31	0.53577	N	0.467	0.57518	-0.3469	0.73643	T	0.399	0.75073	T	10	0.33158714	0.50378	T	0.032298	0.54161	D	0.169	0.43123	0.183	0.09131	0.767456104386	0.76533	0.43964145955007883	0.43881	0.334752977598	0.35486	0.752207040787	0.74772	T	0.027953	0.21560	T	-0.000931156	0.51525	T	-0.239114	0.50884	T	0.881201684474945	0.53125	D	0.935006	0.75597	D	0.3168592	0.54373	0.25065812	0.50661	0.3168592	0.54373	0.25065812	0.50661	-6.908	0.53358	T	.	.	0.544	0.67264	A	.;.;.	.;.;.	3.622144	0.51264	23.1	0.99701555927152818	0.80660	0.90406	0.51556	D	AEFBI	0.254874	0.37411	N	0.222540777116351	0.52292	3.404366	0.217313044446708	0.50806	3.269022	0.789694335906779	0.23993	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.38	0.28415	1.055000	0.30077	0.796000	0.21614	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.6989:0.0:0.3011	10.086	0.41592	653	0.62661	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	433.83	33	chr2	69520916	.	C	A	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.278;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.63;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,12:32:99:0|1:69520913_C_G:444,0,764:69520913	5	0	1	0
chr2	71423005	71423005	C	T	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon22:c.C3491T:p.T1164I,ZNF638:NM_001252612:exon22:c.C3491T:p.T1164I,ZNF638:NM_001252613:exon22:c.C3491T:p.T1164I,ZNF638:NM_014497:exon22:c.C3491T:p.T1164I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0124099839299	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs775034658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.215	0.26306	T	0.838	0.46404	P	0.367	0.43430	B	0.005959	0.32383	N	0.219105	1	0.19238	N	1.625	0.41611	L	1.47	0.31987	T	-1.33	0.33197	N	0.254	0.30347	-1.0796	0.07426	T	0.068	0.27947	T	10	0.092464745	0.16284	T	0.01241	0.30958	T	0.039	0.10176	0.23	0.15705	0.043077524339	0.03247	0.14889214919659924	0.14811	0.101699149818	0.11504	0.409465014935	0.26383	T	0.028395	0.20579	T	-0.155551	0.27447	T	-0.461215	0.26467	T	0.551341474056244	0.34527	D	0.889911	0.62289	D	0.08723379	0.20304	0.12782551	0.30764	0.08723379	0.20304	0.12782551	0.30763	-4.636	0.32621	T	.	.	0.121	0.25265	B	.;.	.;.	1.332052	0.17371	13.13	0.98689952459724661	0.44738	0.08962	0.14810	N	AEFDGBIJ	0.076239	0.15332	N	-0.157251814511563	0.34928	2.000	-0.207583327170464	0.31262	1.767615	0.99994757905376	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.54	3.6	0.40374	1.141000	0.31140	.	.	0.599000	0.40250	0.001000	0.13787	0.914000	0.28189	0.654000	0.32802	0.3212:0.6788:0.0:0.0	11.487	0.49609	633	0.64743	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1051.83	34	chr2	71423005	.	C	T	1051.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.827;DP=250;ExcessHet=0;FS=3.005;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.255;SOR=0.497	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1062,0,1191	5	0	1	0
chr2	86106303	86106303	C	A	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon1:c.C56A:p.P19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00822400668741	.	.	8.375e-06	0	8.657e-05	0	0	0	0	0	6.5e-06	1	154602	rs748198617	3.421e-06	3.42e-06	4.084e-06	2.75e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.384	0.56640	T	0.028	0.19712	B	0.01	0.14941	B	0.499768	0.11963	N	0.759465	1	0.08975	N	1.355	0.33814	L	1.23	0.50976	T	-0.21	0.11008	N	0.395	0.45520	-0.9864	0.33494	T	0.099	0.36805	T	10	0.05172518	0.05096	T	0.008224	0.21776	T	0.075	0.21907	0.186	0.09517	0.126345400529	0.12197	0.26489497809758283	0.26402	0.0508776798481	0.05589	0.365710318089	0.20215	T	0.007099	0.36062	T	-0.210125	0.19360	T	-0.442752	0.28502	T	0.0332463242486539	0.02511	T	0.523848	0.17633	T	0.026903333	0.01807	0.04862283	0.07261	0.026903333	0.01807	0.04862283	0.07261	-2.979	0.09956	T	.	.	0.095	0.34272	B	.;.;.	.;.;.	0.681591	0.10498	7.215	0.88928418117653119	0.18369	0.16414	0.19378	N	ALL	0.079274	0.16008	N	-0.991486350489204	0.08784	0.4132307	-1.04579287266976	0.08795	0.4341845	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.0	0.691	0.17208	0.407000	0.20770	-2.110000	0.04198	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1676:0.4093:0.3268:0.0963	3.208	0.06275	576	0.70006	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	849.83	35	chr2	86106303	.	C	A	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.445;DP=233;ExcessHet=0;FS=8.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.68;SOR=0.146	GT:AD:DP:GQ:PL	0/1:18,33:51:99:860,0,451	5	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	1178.03	33	chr2	94876587	.	C	A	1178.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.141;DP=783;ExcessHet=1.383;FS=13.178;MLEAC=3;MLEAF=0.25;MQ=58.15;MQRankSum=-15.1;QD=1.77;ReadPosRankSum=-2.696;SOR=2.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,14:174:99:0|1:94876587_C_A:106,0,6665:94876587	3	0	3	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,21:208:99:0|1:94876587_C_A:319,0,7789:94876587	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	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	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,29:234:99:0|1:94876587_C_A:601,0,8444:94876587	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,37:248:99:0|1:94876671_A_G:919,0,8640:94876671	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	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	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,37:248:99:0|1:94876671_A_G:919,0,8668:94876671	0	0	6	0
chr2	95048062	95048062	C	G	exonic	MAL	.	nonsynonymous SNV	MAL:NM_002371:exon2:c.C197G:p.T66S,MAL:NM_022438:exon2:c.C197G:p.T66S	.	421	1098	3	0	0	3	0.00136426	.	.	.	2757330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.016528661052	0.0002	0.000199681	0.0002	9.615e-05	0	0	0	0.0003	0	6.057e-05	0.0001294	20	154602	rs201902217	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	0	0.0001	0	0	0	0.0014	0.0002	0.0002	0.0001	8.542e-05	8.531e-05	7.712e-05	9.41e-05	0.0002	4.957e-05	3.963e-05	6.806e-05	5.089e-05	2.408e-05	0	0	0	0	0	0.0068	0.0001	0	0.0002	0.549	0.07354	T	0.856	0.07015	T	0.819	0.45682	P	0.391	0.44178	B	0.000000	0.84330	D	0.044115	0.999978	0.81001	D	0.975	0.24501	L	1.84	0.44856	T	-1.64	0.45949	N	0.313	0.35301	-1.0939	0.04914	T	0.093	0.35444	T	10	0.12164748	0.23064	T	0.016529	0.37830	T	0.154	0.40340	0.682	0.81982	0.300371490279	0.29641	0.7279593698297512	0.72739	0.318228428824	0.34054	0.501561284065	0.39046	T	0.180519	0.53189	T	-0.284222	0.10226	T	-0.366606	0.37285	T	0.069131822637587	0.08529	T	0.645335	0.25688	T	0.17148471	0.37784	0.25381687	0.51036	0.17148471	0.37784	0.25381687	0.51035	-4.423	0.38388	T	.	.	0.215	0.52026	B	.;.	.;.	2.685249	0.35042	19.79	0.98981421950978399	0.49740	0.96828	0.71158	D	AEFBCI	0.828031	0.74721	D	0.252426296815042	0.53758	3.543437	0.357485993091753	0.58960	4.070004	0.999999999978946	0.74766	0.50712	0.20391	0	0.658105	0.61773	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	7.232000	0.77582	7.593000	0.61311	0.596000	0.33519	0.927000	0.32177	1.000000	0.68203	0.537000	0.29868	0.0:1.0:0.0:0.0	15.496	0.75386	.	.	Marvel domain|Marvel domain;.	.	.	.	.	.	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	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	713.83	37	chr2	95048062	.	C	G	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.167;DP=262;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-0.317;SOR=0.811	GT:AD:DP:GQ:PL	0/1:45,37:82:99:724,0,1149	5	0	1	0
chr2	95482590	95482590	G	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon2:c.C125T:p.S42L	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0027	0	0	0.0002	0	0	0	0.0165	0.0010758	28	26028	rs369206903	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0008	0.0138	0.0135	2.988e-05	0	0	5.038e-05	0	0.0002	1.079e-05	0.0010	0.0145	0.0005	0.0005	0.0002	0.0008	0.0155	0.0004	0.0004	0.0126	0.0116	2.415e-05	0	0	0	0	0	0	1.472e-05	0	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.015	0.01143	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004539311	0.00094	T	.	.	.	.	.	.	.	.	.	0.1850377407593398	0.18421	.	.	0.361660897732	0.19628	T	0.005367	0.04821	T	.	.	.	.	.	.	.	.	.	0.110689	0.00829	T	0.092126064	0.21605	0.23118289	0.48243	0.092126064	0.21604	0.23118289	0.48242	-9.051	0.68025	D	.	.	0.126	0.26794	B	.;.	.;.	0.487989	0.08571	5.339	0.79079095027906421	0.12581	0.00293	0.01568	N	AEFI	.	.	.	.	.	.	.	.	.	1.12173179916875E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0961982	0.21574	1.93	-0.353	0.11969	-0.190000	0.09612	-20.000000	0.00162	0.371000	0.20270	0.008000	0.17931	0.000000	0.08366	0.020000	0.11549	0.0:0.3033:0.4961:0.2005	5.456	0.15888	489	0.76795	Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1268.83	35	chr2	95482590	.	G	A	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.652;DP=295;ExcessHet=0;FS=0.699;MLEAC=1;MLEAF=0.083;MQ=38.21;MQRankSum=-0.695;QD=11.23;ReadPosRankSum=-0.348;SOR=0.799	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1279,0,1290	5	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil 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	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:127,29:156:99:477,0,3556	0	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil 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	1	0	0	0	.	.	.	.	.	.	.	.	0.25	669.03	194	chr2	95855406	.	C	G	669.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.36;DP=1088;ExcessHet=1.383;FS=9.024;MLEAC=3;MLEAF=0.25;MQ=54.13;MQRankSum=-6.884;QD=1.17;ReadPosRankSum=-2.638;SOR=1.47	GT:AD:DP:GQ:PL	0/1:143,27:170:99:378,0,4251	3	0	3	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil 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	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:134,57:191:99:1156,0,4062	0	0	6	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:150,45:195:99:1015,0,4313	0	0	6	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil 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	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:154,33:187:99:607,0,4403	0	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	3009.96	69	chr2	95859895	.	T	C	3009.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.169;DP=479;ExcessHet=3.1439;FS=13.078;MLEAC=4;MLEAF=0.333;MQ=57.21;MQRankSum=-0.682;QD=9.84;ReadPosRankSum=-0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/1:66,13:79:99:327,0,2681	2	0	4	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,44:110:99:0|1:95859969_A_AT:1641,0,2639:95859969	0	0	6	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,44:110:99:0|1:95859969_A_AT:1641,0,2639:95859969	0	0	6	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,44:111:99:0|1:95859969_A_AT:1646,0,2661:95859969	0	0	6	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:68,41:109:99:1518,0,1777	0	0	6	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,38:106:99:0|1:95860002_T_A:1391,0,2741:95860002	0	0	6	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,36:104:99:0|1:95860002_T_A:1307,0,2747:95860002	0	0	6	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,29:96:99:0|1:95860020_G_A:1016,0,2684:95860020	0	0	6	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,29:96:99:0|1:95860020_G_A:1016,0,2684:95860020	0	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,21:77:99:.:.:715,0,1557:.	0	0	6	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:95927222_G_GAT:494,0,3014:95927222	0	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,22:98:99:0|1:95927222_G_GAT:695,0,3125:95927222	0	0	6	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,27:107:99:0|1:95927222_G_GAT:893,0,3278:95927222	0	0	6	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,40:137:99:0|1:95927222_G_GAT:1388,0,3953:95927222	0	0	6	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,64:163:99:0|1:95927222_G_GAT:2320,0,3909:95927222	0	0	6	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,64:170:99:0|1:95927222_G_GAT:2299,0,4111:95927222	0	0	6	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,53:135:99:0|1:95929092_T_C:1942,0,3276:95929092	0	0	6	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,70:166:99:0|1:95929092_T_C:2650,0,3820:95929092	0	0	6	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,84:199:99:0|1:95929092_T_C:3181,0,4576:95929092	0	0	6	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,85:201:99:0|1:95929092_T_C:3220,0,4615:95929092	0	0	6	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,86:205:99:0|1:95929092_T_C:3244,0,4707:95929092	0	0	6	0
chr2	97118138	97118138	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon2:c.T272C:p.L91P,ANKRD36:NM_198555:exon2:c.T272C:p.L91P	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	.	8.5e-05	0.0109824	0.0200	0	0.0018	0.0012	0	0	0.0039	0.0588	0.0028047	73	26028	rs370308910	0.0035	0.0036	0.0019	0.0051	0.0575	0.0034	0.0034	0.0561	0.0555	0.0001	0.0002	0	0.0002	0	0.0014	5.245e-05	0.0044	0.0575	0.0019	0.0020	0.0011	0.0028	0.0602	0.0018	0.0017	0.0545	0.0523	4.815e-05	0	6.561e-05	0	0.0002	0	0	5.883e-05	0	0.0602	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.948	0.68536	D	0.305571	0.14523	N	0.554125	0.993027	0.41813	D	0.705	0.18577	N	-0.1	0.64264	T	-3.35	0.66436	D	0.681	0.75559	-0.6937	0.60735	T	0.240	0.60774	T	10	0.005808383	0.00130	T	.	.	.	0.356	0.67691	.	.	0.480123561213	0.47641	.	.	.	.	0.868635416031	0.92373	D	0.028298	0.20529	T	-0.336724	0.05618	T	-0.215478	0.53172	T	0.0650473898335353	0.07937	T	0.573543	0.20534	T	0.5517775	0.70054	0.51022047	0.71696	0.5517775	0.70055	0.51022047	0.71697	-10.445	0.76531	D	.	.	0.266	0.70767	B	.;.;.;.	.;.;.;.	2.858005	0.37752	20.6	0.98801269973494266	0.46461	0.60759	0.31288	D	AEFBI	0.274415	0.38960	N	-0.180928729133569	0.33929	1.930624	-0.381348690577065	0.25553	1.405975	2.15883818205734E-5	0.03498	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	1.4	0.21393	4.653000	0.61156	1.969000	0.29978	0.316000	0.19262	0.987000	0.36337	0.033000	0.21346	0.013000	0.09966	0.0:0.0:0.0:1.0	4.956	0.13390	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	1	0	0	0	0.008602	0.000000	0.000000	0.008197	0.000000	0.000000	0.000000	0.030769	0.08333	1841.83	35	chr2	97118138	.	T	C	1841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.033;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=47.39;MQRankSum=-6.01;QD=10.12;ReadPosRankSum=0.325;SOR=0.676	GT:AD:DP:GQ:PL	0/1:106,76:182:99:1852,0,2834	5	0	1	0
chr2	97142769	97142769	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon8:c.A835G:p.S279G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00102314120254	.	.	2.732e-05	0	0	0	0	5.109e-05	0	0	1.29e-05	2	154602	rs745451855	2.373e-05	2.599e-05	1.801e-05	2.953e-05	0.0007	1.708e-05	1.507e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.73e-05	8.419e-05	7.19e-05	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.122	0.35710	T	0.618	0.39878	P	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.1	0.19990	T	-0.95	0.25332	N	0.183	0.24510	-1.0284	0.20973	T	0.020	0.08220	T	9	0.08046433	0.13063	T	0.001023	0.01120	T	0.018	0.03083	0.241	0.17371	0.0297737177859	0.01360	.	.	.	.	0.640867352486	0.58687	T	0.002524	0.01914	T	-0.328626	0.06215	T	-0.709825	0.05304	T	0.0287923263551699	0.01806	T	0.380662	0.09189	T	0.08965935	0.20956	0.0714744	0.15310	0.08965935	0.20956	0.0714744	0.15310	-9.486	0.70772	D	.	.	0.139	0.32030	B	.;.	.;.	1.379562	0.17910	13.44	0.91501364842959665	0.20775	0.00136	0.00836	N	AEFBI	0.015869	0.00324	N	-1.09502208555681	0.06734	0.3108619	-1.25475638261865	0.05061	0.2402587	1.74714276017243E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.322989	0.05693	1	.	.	1.38	-1.29	0.08805	-1.026000	0.03707	-1.007000	0.06626	0.372000	0.20277	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5244:0.0:0.4756:0.0	4.247	0.10127	230	0.91032	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	961.83	37	chr2	97142769	.	A	G	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.153;DP=479;ExcessHet=0;FS=0.894;MLEAC=1;MLEAF=0.083;MQ=57.8;MQRankSum=2.76;QD=11.87;ReadPosRankSum=-0.319;SOR=0.516	GT:AD:DP:GQ:PL	0/1:46,35:81:99:972,0,1362	5	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,8:108:35:0|1:97185336_GC_G:35,0,4155:97185336	1	0	5	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,8:109:32:0|1:97185336_GC_G:32,0,4217:97185336	1	0	5	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,8:110:29:0|1:97185336_GC_G:29,0,4259:97185336	1	0	5	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	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	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,43:70:99:0|1:97513219_T_C:1724,0,1004:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	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	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,46:73:99:0|1:97513219_T_C:1850,0,995:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,54:81:99:0|1:97513244_G_T:2186,0,951:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	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	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,56:84:99:0|1:97513244_G_T:2267,0,987:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	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	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,56:84:99:0|1:97513244_G_T:2267,0,987:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	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	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,54:81:99:0|1:97513268_C_T:2186,0,971:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	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	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,54:82:99:0|1:97513268_C_T:2183,0,1013:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	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	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,54:82:99:0|1:97513268_C_T:2183,0,1013:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	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	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,55:83:99:0|1:97513268_C_T:2199,0,990:97513268	0	0	6	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	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	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:24,24:48:99:538,0,539	0	0	6	0
chr2	102519909	102519909	C	T	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon9:c.C1772T:p.S591F	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	0.00459265	0.0039	9.61e-05	8.658e-05	0	0	1.499e-05	0.0011	0.0282	0.0032794	507	154602	rs373445180	0.0017	0.0017	0.0009	0.0025	0.0267	0.0016	0.0016	0.0258	0.0255	8.968e-05	8.945e-05	0	5.039e-05	0	0.0012	5.397e-06	0.0014	0.0267	0.0010	0.0010	0.0004	0.0017	0.0320	0.0009	0.0008	0.0278	0.0263	0	0	0	0	0.0002	0	0.0034	0	0.0005	0.0320	0.005	0.63226	D	0.011	0.64786	D	0.18	0.29046	B	0.067	0.27542	B	0.012878	0.29027	N	0.386878	0.908112	0.36340	D	2.015	0.55033	M	0.86	0.46777	T	-2.9	0.60827	D	0.54	0.56748	-0.7905	0.55700	T	0.168	0.50794	T	10	0.005721569	0.00127	T	.	.	.	0.182	0.45420	.	.	0.52186301387	0.51830	0.5131360382931707	0.51235	0.476697284659	0.46795	0.439870595932	0.30558	T	0.241607	0.61017	T	-0.407707	0.02059	T	-0.338147	0.40553	T	0.0734662325290808	0.09129	T	0.822218	0.48193	T	0.2358809	0.46430	0.2933075	0.55359	0.2358809	0.46430	0.2933075	0.55359	-6.924	0.53477	T	.	.	0.203	0.42720	B	.	.	3.993129	0.58790	24.0	0.99835936861751418	0.91714	0.92170	0.55101	D	AEFGBCI	0.536431	0.55465	D	0.305723627929053	0.56442	3.808885	0.453057377268326	0.64915	4.757879	0.967875349357591	0.29010	0.525926	0.21836	0	0.573888	0.26702	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	6.16	6.16	0.99302	3.195000	0.50714	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1378:0.8622:0.0:0.0	15.564	0.76010	502	0.75873	Sodium/hydrogen exchanger, regulatory region	.	.	.	.	.	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	0.002525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.015267	0.08333	698.83	61	chr2	102519909	.	C	T	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.63;DP=378;ExcessHet=0;FS=6.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.184;SOR=0.884	GT:AD:DP:GQ:PL	0/1:42,31:73:99:709,0,1126	5	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	3439.8	135	chr2	108259015	.	G	*	3439.8	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.037;DP=785;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.243;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,60:122:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:4367,2017,2537:108259008	2	3	1	0
chr2	132784881	132784881	T	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A1930C:p.T644P	.	.	.	.	.	.	.	.	.	.	.	2208996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0144197466237	.	.	8.986e-06	0	0	0	0	1.553e-05	0	0	6.5e-06	1	154602	rs760389553	9.914e-06	1.026e-05	2.797e-06	1.722e-05	1.194e-05	5.75e-06	4.5e-06	6.66e-06	5.13e-06	0	0	0	0	0	0	1.194e-05	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.102	0.38450	T	0.61	0.39628	P	0.202	0.36942	B	0.163198	0.17599	U	0.395578	1	0.81001	D	1.78	0.46185	L	0.94	0.43672	T	-1.95	0.45222	N	0.147	0.14905	-1.0742	0.08514	T	0.070	0.28445	T	10	0.07277539	0.10909	T	0.01442	0.34525	T	0.058	0.16647	0.088	0.00943	0.082315109003	0.07666	0.04455609937982697	0.04399	0.165844327787	0.18713	0.2513487041	0.03912	T	0.004702	0.04113	T	-0.279203	0.10751	T	-0.533547	0.18934	T	0.231552556157112	0.22025	T	0.577942	0.20808	T	0.30338284	0.53206	0.33484387	0.59305	0.30338284	0.53206	0.33484387	0.59304	-3.325	0.14061	T	.	.	0.094	0.14431	B	.;.	.;.	1.686325	0.21489	15.22	0.99095874980540311	0.52346	0.77637	0.38196	D	AEFBI	0.441738	0.49976	N	-0.135597240999445	0.35849	2.064455	-0.0514325582911964	0.37427	2.191341	0.00998535850662474	0.11946	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	4.46	0.53567	1.711000	0.37549	.	.	0.661000	0.55757	0.705000	0.28674	0.053000	0.21875	0.793000	0.37436	0.1407:0.0:0.0:0.8593	10.823	0.45818	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2028.83	119	chr2	132784881	.	T	G	2028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.16;DP=480;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.123;SOR=0.632	GT:AD:DP:GQ:PL	0/1:55,69:124:99:2039,0,1499	5	0	1	0
chr2	151251573	151251573	-	T	exonic	RBM43	.	frameshift insertion	RBM43:NM_198557:exon4:c.406dupA:p.I136Nfs*48	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	.	0.0014	0.0018	0.0003	0.0005	0.0062	0.0011	0.0011	0.0017	0.0002689	7	26028	rs142934811	0.0012	0.0097	0.0012	0.0011	0.0011	0.0011	0.0011	0.0010	0.0010	0.0004	0.0004	0.0001	0.0002	0.0068	0.0005	0.0011	0.0010	0.0008	0.0011	0.0012	0.0007	0.0015	0.0009	0.0010	0.0009	0.0007	0.0006	0.0003	0	0.0005	0	0	0.0083	0	0.0009	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	518.79	34	chr2	151251573	.	A	AT	518.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.157;DP=233;ExcessHet=0;FS=4.23;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.174;SOR=0.268	GT:AD:DP:GQ:PL	0/1:27,25:52:99:529,0,606	5	0	1	0
chr2	151576351	151576351	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon78:c.C11569T:p.L3857F,NEB:NM_001164507:exon106:c.C16708T:p.L5570F,NEB:NM_001164508:exon106:c.C16708T:p.L5570F,NEB:NM_001271208:exon106:c.C16708T:p.L5570F	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2109080	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.039732401768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.969e-07	1.368e-06	1.384e-06	0	9.134e-07	0	0	.	.	0	0	0	0	0	0	9.134e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.006	0.70582	D	0.027	0.19556	B	0.281	0.40336	B	0.000009	0.62929	D	0.108633	0.724154	0.33649	D	1.08	0.27187	L	0.64	0.52867	T	-0.71	0.35792	N	0.233	0.28028	-1.0434	0.16294	T	0.089	0.34353	T	10	0.14483106	0.27480	T	0.039732	0.58980	D	0.163	0.42028	0.475	0.55182	0.370051654043	0.36618	0.14148972241533037	0.14071	0.274579088507	0.29952	0.43760997057	0.30251	T	0.01561	0.37984	T	-0.117166	0.33589	T	-0.406077	0.32680	T	0.84323924779892	0.49594	D	0.247375	0.23144	T	0.076196775	0.17217	0.06140547	0.11853	0.076196775	0.17216	0.06140547	0.11852	-6.058	0.48872	T	.	.	0.202	0.42635	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.112967	0.26894	17.27	0.99370084071276588	0.61411	0.80294	0.39970	D	AEFBI	0.310362	0.41640	N	-0.433897499628256	0.24288	1.310452	-0.237938621742386	0.30188	1.69764	0.163528157529396	0.17629	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	4.89	0.63387	1.061000	0.30152	.	.	-0.140000	0.12423	0.835000	0.30208	0.572000	0.25577	0.924000	0.46004	0.0:0.1691:0.1973:0.6336	4.266	0.10210	905	0.23532	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	329.83	36	chr2	151576351	.	G	A	329.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.187;DP=179;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.351;SOR=0.296	GT:AD:DP:GQ:PL	0/1:17,14:31:99:340,0,494	5	0	1	0
chr2	161974316	161974316	G	A	exonic	SLC4A10	.	nonsynonymous SNV	SLC4A10:NM_001354453:exon22:c.G2990A:p.R997K,SLC4A10:NM_001354446:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001354449:exon23:c.G3134A:p.R1045K,SLC4A10:NM_001354450:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001354451:exon23:c.G3134A:p.R1045K,SLC4A10:NM_022058:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001178015:exon24:c.G3227A:p.R1076K,SLC4A10:NM_001178016:exon24:c.G3170A:p.R1057K,SLC4A10:NM_001354440:exon24:c.G3227A:p.R1076K,SLC4A10:NM_001354443:exon24:c.G3173A:p.R1058K,SLC4A10:NM_001354444:exon24:c.G3224A:p.R1075K,SLC4A10:NM_001354445:exon24:c.G3170A:p.R1057K,SLC4A10:NM_001354448:exon24:c.G3167A:p.R1056K,SLC4A10:NM_001354455:exon24:c.G2558A:p.R853K,SLC4A10:NM_001354441:exon25:c.G3260A:p.R1087K,SLC4A10:NM_001354442:exon25:c.G3260A:p.R1087K,SLC4A10:NM_001354447:exon25:c.G3173A:p.R1058K,SLC4A10:NM_001354460:exon25:c.G3263A:p.R1088K,SLC4A10:NM_001354461:exon26:c.G3263A:p.R1088K	.	.	.	.	.	.	.	.	0.9690	0.888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	.	.	0.000399361	7.343e-05	0	0.0006	0	0	5.468e-05	0	0	4.53e-05	7	154602	rs182913811	9.668e-06	9.577e-06	9.603e-06	9.734e-06	0.0002	5.61e-06	4.39e-06	9.33e-05	6.793e-05	0	0.0002	0	0	0	0.0002	2.713e-06	3.337e-05	0	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0011	0.0010	2.408e-05	0	0.0016	0	0	0	0	0	0.0009	0	0.352	0.12226	T	0.652	0.06690	T	0.001	0.09854	B	0.003	0.11217	B	0.003500	0.34874	N	0.302849	0.992341	0.81001	D	-0.06	0.04898	N	-1.15	0.78082	T	-0.06	0.08495	N	0.311	0.35088	-0.8773	0.49974	T	0.153	0.48188	T	10	0.032296956	0.01379	T	0.016108	0.37202	T	0.226	0.52472	.	.	0.683511509103	0.68081	0.35264575861915964	0.35178	0.0103014648276	0.00949	0.712126493454	0.68901	T	0.00209	0.32449	T	-0.190848	0.22133	T	-0.252238	0.49596	T	0.0788178667426109	0.09836	T	0.625537	0.24174	T	0.1388659	0.32100	0.114588805	0.27661	0.1388659	0.32100	0.114588805	0.27660	-2.028	0.03428	T	.	.	0.087	0.17275	B	.;.;.;.	.;.;.;.	3.515067	0.49240	22.7	0.94876391788121872	0.25703	0.91609	0.53886	D	AEFBI	0.727270	0.67566	D	-0.461595473604376	0.23349	1.253196	-0.25415926270798	0.29628	1.661456	0.991387515944391	0.32470	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.38	4.5	0.54382	3.899000	0.56000	8.653000	0.77941	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0721:0.0:0.9279:0.0	14.303	0.65922	486	0.77016	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	510.83	37	chr2	161974316	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.49;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=2.13;SOR=0.676	GT:AD:DP:GQ:PL	0/1:29,21:50:99:521,0,695	5	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGA	exonic	PRKRA	.	nonframeshift insertion	PRKRA:NM_001139517:exon1:c.29_30insTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10_S11insPRAGTAEAPPLEREDSGTF	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.321e-05	9.508e-05	6.671e-05	7.977e-05	0.0045	6.182e-05	5.743e-05	0.0032	0.0027	0	0	0	0	0.0007	0.0045	2.698e-05	4.968e-05	0.0001	0.0004	0.0010	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0011	0.0005	0.0003	0.0004	0.0002	0.0034	0.0005	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	755.79	35	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGA	755.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=320;ExcessHet=0;FS=1.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-3.022;SOR=0.468	GT:AD:DP:GQ:PL	0/1:103,26:129:99:766,0,4212	5	0	1	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q,TTN:NM_133432:exon187:c.G76327C:p.E25443Q,TTN:NM_133437:exon187:c.G76528C:p.E25510Q,TTN:NM_133378:exon307:c.G95443C:p.E31815Q,TTN:NM_001256850:exon308:c.G98224C:p.E32742Q,TTN:NM_001267550:exon358:c.G103147C:p.E34383Q	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	0	1509	13	0	0	13	0.00428901	.	.	.	136136	Cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1715.83	93	chr2	178533468	.	C	G	1715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.798;DP=495;ExcessHet=0;FS=0.668;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.323;SOR=0.757	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1726,0,1690	5	0	1	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V,TTN:NM_001256850:exon91:c.A25912G:p.I8638V,TTN:NM_001267550:exon93:c.A26863G:p.I8955V	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	0	1512	10	0	0	10	0.00329598	.	.	.	136110	Cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	2012.83	33	chr2	178713271	.	T	C	2012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=401;ExcessHet=0;FS=3.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.19;SOR=0.453	GT:AD:DP:GQ:PL	0/1:108,79:187:99:2023,0,3032	5	0	1	0
chr2	185806959	185806959	A	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A17653C:p.K5885Q	.	.	.	.	.	.	.	.	.	.	.	3207706	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00259585	0.0019	0.0001	0	0	0	1.513e-05	0	0.0136	0.0015782	244	154602	rs373057979	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	0	2.25e-05	0	0	0	0.0016	4.5e-06	0.0010	0.0109	0.0004	0.0004	0.0002	0.0007	0.0122	0.0003	0.0003	0.0097	0.0088	4.816e-05	0	0.0003	0	0	0	0	0	0.0005	0.0122	0.533	0.06957	T	0.172	0.30241	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	0.91	0.44856	T	-1.63	0.39119	N	0.082	0.09631	-1.0202	0.23649	T	0.067	0.27606	T	7	0.0046013594	0.00096	T	.	.	.	0.018	0.03083	.	.	0.185906805712	0.18197	0.16233871054588297	0.16153	.	.	0.320940494537	0.13565	T	0.007151	0.06566	T	-0.679618	0.00048	T	-0.738613	0.03950	T	0.0154835717580351	0.00349	T	0.519848	0.17429	T	0.059863213	0.12215	0.03621074	0.03021	0.03812319	0.05018	0.03138014	0.01717	-1.607	0.01998	T	.	.	0.125	0.26294	B	.;.	.;.	0.175664	0.05641	2.090	0.94352817861416782	0.24703	0.01657	0.05315	N	AEFHCI	.	.	.	-0.705338503128376	0.15871	0.8037255	-0.795976166515157	0.14594	0.7633178	3.02477999050248E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	2.13	0.26445	-0.168000	0.09914	0.745000	0.21191	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.4749:0.5251:0.0:0.0	8.918	0.34752	751	0.51694	.;.	.	.	.	.	.	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	0.002591	0.000000	0.000000	0.003497	0.000000	0.008621	0.000000	0.003788	0.08333	1703.83	96	chr2	185806959	.	A	C	1703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.452;DP=462;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.617;SOR=0.634	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1714,0,1558	5	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	412.91	.	chr2	186504215	.	G	C	412.91	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,15:31:99:.:.:105,0,158:.	3	0	1	2
chr2	186751157	186751157	C	T	exonic	FAM171B	.	nonsynonymous SNV	FAM171B:NM_177454:exon5:c.C748T:p.P250S	.	.	.	.	.	.	.	.	.	.	.	707895	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.462	.	0.0107	0.0109824	0.0031	0.0347	0.0006	0	0	7.542e-05	0.0011	0.0001	0.0029624	458	154602	rs79964543	0.0009	0.0009	0.0010	0.0007	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0013	0	0	0	0.0010	3.344e-05	0.0024	9.406e-05	0.0096	0.0096	0.0095	0.0097	0.0333	0.0092	0.0090	0.0318	0.0312	0.0333	0	0.0038	0	0	0	0	0.0001	0.0061	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.053942	1	0.81001	D	2.44	0.70756	M	-0.06	0.63568	T	-5.21	0.83763	D	0.947	0.95491	-0.5356	0.67330	T	0.120	0.41993	T	10	0.010239631	0.00229	T	.	.	.	0.462	0.75889	.	.	0.778858723293	0.77681	0.8581925109644288	0.85782	0.946287862059	0.72418	0.51248216629	0.40569	T	0.269783	0.64201	T	-0.320741	0.06838	T	-0.208432	0.53846	T	0.0201386340353833	0.00715	T	0.882812	0.60417	D	0.56767476	0.70932	0.5403919	0.73437	0.56767476	0.70934	0.5403919	0.73438	-7.109	0.54825	T	.	.	0.302	0.53127	B	.	.	4.315408	0.66008	24.9	0.99901013334666278	0.97275	0.91614	0.53897	D	AEFDBHCI	0.498757	0.53272	N	0.750904059557319	0.82965	7.894621	0.729885940602594	0.84647	8.350814	0.999911673236638	0.45857	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	5.816000	0.68900	7.467000	0.59112	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.636	0.88023	344	0.85734	.	.	.	.	.	.	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	0.001514	0.010309	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	829.83	33	chr2	186751157	.	C	T	829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.789;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.036;SOR=0.651	GT:AD:DP:GQ:PL	0/1:37,33:70:99:840,0,956	5	0	1	0
chr2	186828124	186828124	G	A	exonic	ZSWIM2	.	nonsynonymous SNV	ZSWIM2:NM_182521:exon9:c.C1762T:p.L588F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00560569632193	.	0.000199681	3.315e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs578031998	7.527e-06	7.524e-06	0	1.513e-05	0.0001	4.04e-06	2.95e-06	7.125e-05	5.483e-05	0	0	0	0	0	0	0	0	0.0001	1.972e-05	1.969e-05	0	4.034e-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	0.113	0.28772	T	0.426	0.13872	T	0.003	0.11197	B	0.006	0.12133	B	0.091237	0.20336	N	0.420561	1	0.08975	N	0.75	0.19020	N	1.85	0.24472	T	-0.89	0.24026	N	0.066	0.03841	-1.0307	0.20227	T	0.031	0.13504	T	10	0.020746171	0.00483	T	0.005606	0.14469	T	0.014	0.01968	0.234	0.16305	0.0138822411134	0.00435	0.054060178814679144	0.05348	0.0103229151761	0.00949	0.277863770723	0.07196	T	0.005711	0.05159	T	-0.516643	0.00460	T	-0.68775	0.06520	T	0.0148464184390078	0.00313	T	0.443756	0.12347	T	0.052968856	0.09956	0.052759018	0.08753	0.052968856	0.09955	0.052759018	0.08753	-4.485	0.30692	T	.	.	0.071	0.04041	B	.	.	0.736550	0.11056	7.711	0.93533408082173564	0.23356	0.06271	0.12263	N	AEFBI	0.057337	0.10672	N	-1.03727622093657	0.07839	0.3655531	-0.972044367116116	0.10415	0.5244652	0.935749106182943	0.27226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.45	3.65	0.40985	0.900000	0.28062	0.861000	0.22228	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.699000	0.34110	0.0868:0.0:0.746:0.1672	7.214	0.25125	462	0.78611	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1777.83	41	chr2	186828124	.	G	A	1777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.218;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.192;SOR=0.76	GT:AD:DP:GQ:PL	0/1:39,62:101:99:1788,0,1034	5	0	1	0
chr2	207976867	207976867	C	T	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon3:c.G1330A:p.A444T	.	433	1081	7	1	0	9	0.00414556	.	.	.	2379077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0190962533871	8.2e-05	.	9.113e-05	0	8.651e-05	0	0	7.494e-05	0	0.0003	7.12e-05	11	154602	rs201268173	6.225e-05	6.225e-05	5.309e-05	7.15e-05	0.0012	5.161e-05	4.78e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	4.317e-05	0.0002	0.0002	9.197e-05	9.193e-05	6.422e-05	0.0001	0.0005	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	7.348e-05	0.0005	0	0.0	0.91255	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	2.215	0.62545	M	2.56	0.13673	T	-2.76	0.58569	D	0.841	0.83678	-0.6192	0.64022	T	0.316	0.68575	T	10	0.71842	0.73499	D	0.019096	0.41369	T	0.395	0.71004	.	.	0.317526407968	0.31361	0.5609466324766768	0.56021	0.624344103429	0.56642	0.621729671955	0.55974	T	0.69713	0.91246	D	-0.127587	0.31888	T	-0.124854	0.61402	T	0.6705482006073	0.39362	D	.	.	.	0.6926386	0.77655	0.68618435	0.81546	0.6926386	0.77656	0.68618435	0.81547	-7.908	0.60442	D	.	.	0.446	0.62003	A	.;.	.;.	4.458588	0.69369	25.4	0.99943744546614399	0.99868	0.98871	0.87966	D	AEFBI	0.759830	0.69804	D	0.436936300156282	0.63466	4.580863	0.531066759721349	0.70090	5.454498	0.99999999993828	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.165000	0.77109	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.548	0.95299	739	0.53257	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	1383.83	33	chr2	207976867	.	C	T	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.5;DP=252;ExcessHet=0;FS=4.579;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=-0.691;SOR=0.814	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1394,0,797	5	0	1	0
chr2	209793761	209793761	C	G	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_001371986:exon7:c.C840G:p.I280M,UNC80:NM_032504:exon7:c.C840G:p.I280M,UNC80:NM_182587:exon7:c.C840G:p.I280M	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	414	1106	2	0	0	2	0.000903342	.	.	.	1342314	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014777,MedGen:C4225203,OMIM:616801,Orphanet:371364|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.0023963265619	0.0002	0.000199681	0.0005	0.0002	0.0003	0	0.0002	0.0007	0.0011	0.0005	0.0005369	83	154602	rs142126808	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0006	8.961e-05	0.0004	0	2.519e-05	0.0004	0.0002	0.0007	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	9.622e-05	0	0.0005	0	0	0.0003	0	0.0007	0	0.0002	0.079	0.33753	T	0.113	0.36901	T	0.011	0.15914	B	0.013	0.16460	B	0.017820	0.27632	N	0.391655	0.998234	0.22276	N	0.345	0.11182	N	1.47	0.31987	T	-0.28	0.11547	N	0.141	0.15328	-1.0908	0.05400	T	0.043	0.18701	T	10	0.019459516	0.00435	T	0.002396	0.04673	T	0.010	0.01040	.	.	0.0716867268079	0.06686	0.16231682837212077	0.16151	0.343084062525	0.36237	0.349116533995	0.17792	T	0.031178	0.21924	T	-0.55784	0.00261	T	-0.65958	0.08294	T	0.00622321941114373	0.00069	T	0.741226	0.36032	T	0.06507903	0.13874	0.06342325	0.12561	0.06507903	0.13874	0.06342325	0.12561	-4.295	0.28149	T	.	.	0.083	0.09191	B	.;.	.;.	1.877155	0.23844	16.17	0.9222565022972089	0.21600	0.81674	0.41031	D	AEFI	0.285648	0.39823	N	-0.4903382203138	0.22397	1.19562	-0.328873585543794	0.27171	1.505821	5.3096257696072E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.11	2.28	0.27583	1.214000	0.32023	0.941000	0.22852	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.5646:0.2769:0.1585	6.731	0.22569	814	0.42100	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	960.83	35	chr2	209793761	.	C	G	960.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.833;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.005;SOR=0.703	GT:AD:DP:GQ:PL	0/1:40,38:78:99:971,0,981	5	0	1	0
chr2	211623957	211623957	C	T	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon18:c.G2167A:p.V723I,ERBB4:NM_005235:exon18:c.G2167A:p.V723I	Amyotrophic lateral sclerosis 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3259355	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00387351364831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365046282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26519	T	0.278	0.23164	T	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.84330	D	0.055022	0.999755	0.48800	D	0.725	0.18768	N	-0.0	0.62608	T	-0.29	0.12847	N	0.243	0.28028	-0.9568	0.39771	T	0.141	0.46016	T	10	0.31255132	0.48714	T	0.003874	0.09086	T	0.047	0.12962	0.667	0.80502	0.448695639987	0.44491	0.1522767665049222	0.15149	0.27203420468	0.29712	0.685653924942	0.65081	T	0.233959	0.80928	T	-0.176415	0.24271	T	-0.491184	0.23266	T	0.372903937249515	0.27909	T	0.948705	0.80271	D	0.2770885	0.50768	0.20443948	0.44568	0.2770885	0.50768	0.20443948	0.44567	-5.138	0.39366	T	0.13534109056786978	0.14702	0.062	0.01309	B	.;.;.	.;.;.	2.594079	0.33655	19.40	0.99440988872475766	0.64770	0.88143	0.47942	D	AEFI	0.344753	0.44014	N	-0.0841066396079193	0.38088	2.225563	0.125936881691276	0.45881	2.843425	0.587392781927758	0.21619	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.5	5.5	0.81386	3.359000	0.52012	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.925:0.0:0.075	12.712	0.56462	768	0.49510	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	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	606.83	33	chr2	211623957	.	C	T	606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.139;SOR=0.586	GT:AD:DP:GQ:PL	0/1:28,24:52:99:617,0,663	5	0	1	0
chr2	217835109	217835109	T	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon18:c.A2887G:p.S963G,TNS1:NM_001308023:exon19:c.A2887G:p.S963G,TNS1:NM_022648:exon19:c.A2887G:p.S963G	.	425	1080	17	0	0	17	0.00780891	.	.	.	3211380	TNS1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.393	0.106410655065	.	0.000199681	0.0010	0	0	0.0001	0.0002	0.0005	0	0.0049	0.0008861	137	154602	rs201800226	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.362e-05	7.868e-05	0	0	0	0.0025	0.0003	0.0008	0.0043	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	7.215e-05	0	0.0001	0	0	0	0	0.0004	0.0014	0.0027	0.005	0.63226	D	0.089	0.55759	T	0.85	0.61523	P	0.281	0.43650	B	0.967421	0.07756	N	1.015350	0.998821	0.45510	D	2.075	0.57047	M	-3.01	0.92457	D	-1.9	0.44284	N	0.41	0.45047	0.041	0.83074	D	0.644	0.87575	D	10	0.00945285	0.00213	T	0.106411	0.78200	D	0.393	0.70844	.	.	0.778334313524	0.77629	0.3624967717252459	0.36163	0.113200891925	0.12776	0.473637521267	0.35181	T	0.095558	0.39645	T	-0.177945	0.24042	T	-0.0278417	0.68511	D	0.0310361588703694	0.02151	T	0.863614	0.58780	D	0.15090305	0.34331	0.1746471	0.39875	0.15090305	0.34331	0.1746471	0.39875	-6.372	0.49291	T	.	.	0.095	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.306134	0.45409	22.1	0.99562357059714002	0.71831	0.94422	0.61114	D	AEFBI	0.695923	0.65443	D	0.14108985190973	0.48390	3.051922	0.233805037125471	0.51731	3.353321	0.999999015720487	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.196000	0.64973	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.252000	0.23314	0.0:0.0:0.0:1.0	14.375	0.66432	947	0.11584	.;.;.;.;.;.;.	.	.	.	.	.	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	0.003033	0.000000	0.002717	0.000000	0.000000	0.000000	0.018634	0.003788	0.08333	368.83	33	chr2	217835109	.	T	C	368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.725;DP=216;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.831;SOR=0.384	GT:AD:DP:GQ:PL	0/1:30,16:46:99:379,0,859	5	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	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	1	0	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.08333	783.83	35	chr2	227363746	.	T	G	783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.524;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.36;SOR=0.725	GT:AD:DP:GQ:PL	0/1:44,35:79:99:794,0,1175	5	0	1	0
chr2	231108810	231108810	T	C	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.A1153G:p.K385E,HTR2B:NM_001320758:exon4:c.A1027G:p.K343E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0170783847088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.62352	D	0.995	0.67487	D	0.912	0.64797	D	0.000000	0.84330	D	0.042931	0.999756	0.81001	D	2.65	0.77586	M	0.93	0.44065	T	-3.21	0.64826	D	0.784	0.78072	-0.7718	0.56759	T	0.235	0.60185	T	10	0.85131556	0.84310	D	0.017078	0.38630	T	0.308	0.62947	0.59	0.71874	0.909381559483	0.90847	0.709952888464839	0.70937	0.617258065873	0.56168	0.689675867558	0.65659	T	0.407365	0.76300	T	0.0862989	0.62771	D	-0.113814	0.62306	T	0.980669558048248	0.73482	D	0.924308	0.72323	D	0.78621614	0.83038	0.7447187	0.84911	0.78621614	0.83040	0.7447187	0.84911	-10.859	0.78878	D	.	.	0.282	0.51515	B	.	.	4.939269	0.81495	27.6	0.99896864386666906	0.96971	0.97727	0.76697	D	AEFBI	0.789909	0.71896	D	0.687816212917681	0.78835	6.952092	0.696330372305737	0.82098	7.684103	0.999999944971459	0.74766	0.498214	0.20090	0	0.546412	0.12157	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	6.167000	0.71757	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.329	0.82833	946	0.12043	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1068.83	35	chr2	231108810	.	T	C	1068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=264;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.2;SOR=0.997	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1079,0,1255	5	0	1	0
chr2	231214829	231214829	A	C	splicing	ARMC9	NM_001271466:exon4:c.178-2A>C;NM_001352757:exon4:c.178-2A>C;NM_001352756:exon4:c.178-2A>C;NM_025139:exon4:c.178-2A>C;NM_001352759:exon4:c.178-2A>C;NM_001352758:exon4:c.178-2A>C;NM_001352755:exon4:c.178-2A>C;NM_001291656:exon4:c.178-2A>C;NM_001352754:exon4:c.178-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.918	YES	1314209	Joubert_syndrome_30|not_provided	MONDO:MONDO:0033308,MedGen:C4539937,OMIM:617622|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248147660	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21051	0.74878	D	0.165236	0.81124	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.050041	0.84110	28.2	0.9941196187467688	0.63310	0.96567	0.69787	D	AEFDGBCI	.	.	.	1.14020573753138	0.98813	19.47119	1.00156156981382	0.98658	18.93772	0.999999998037166	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.089874	0.02613	0	0.976313	0.79516	5.81	5.81	0.92413	7.260000	0.77799	10.900000	0.84134	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9291:0.0:0.0709:0.0	11.228	0.48124	946	0.12043	.;.;.;.	.	.	.	.	.	Pathogenic	1	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	0	0	.	.	.	.	.	.	.	.	0.08333	760.83	35	chr2	231214829	.	A	C	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=209;ExcessHet=0;FS=1.435;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.473;SOR=1.209	GT:AD:DP:GQ:PL	0/1:19,27:46:99:771,0,484	5	0	1	0
chr2	233637180	233637180	T	C	exonic	UGT1A10	.	nonsynonymous SNV	UGT1A10:NM_019075:exon1:c.T658C:p.C220R	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0003	0.00199681	0.0008	0	0.0003	0	0	0.0003	0	0.0044	0.0006792	105	154602	rs142057126	0.0004	0.0004	0.0003	0.0005	0.0037	0.0004	0.0003	0.0034	0.0033	5.975e-05	0.0002	3.827e-05	0	0	0.0016	0.0002	0.0004	0.0037	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.406e-05	0	0	0	0	0	0.0068	0.0003	0	0.0046	0.166	0.91255	T	0.109	0.60337	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.986108	0.51612	D	1.33	0.33268	L	0.21	0.59983	T	-10.76	0.99332	D	0.804	0.85449	-0.5359	0.67319	T	0.323	0.69168	T	9	0.047647327	0.04111	T	.	.	.	0.396	0.71084	.	.	0.764572286728	0.76242	0.4809399931855413	0.48013	0.254785759849	0.28058	.	.	.	0.525964	0.83508	D	-0.179025	0.23881	T	-0.0302153	0.68354	D	0.284555649006313	0.24362	T	0.484552	0.14745	T	0.61438495	0.73463	0.6332522	0.78597	0.61438495	0.73464	0.6332522	0.78598	-10.769	0.78376	D	0.2913860928975286	0.38798	0.853	0.79943	P	.;.	.;.	3.766065	0.54064	23.4	0.98101484508664594	0.38278	0.94546	0.61516	D	AEFGBI	0.820685	0.74142	D	0.250590477456229	0.53666	3.534704	0.0873812919960282	0.43911	2.683271	1.47665981641521E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	3.52	0.39415	7.815000	0.84695	-0.631000	0.08125	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.0:1.0	12.535	0.55481	471	0.78036	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	3032.83	33	chr2	233637180	.	T	C	3032.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.466;DP=464;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.083;MQ=59.97;MQRankSum=0.97;QD=11.49;ReadPosRankSum=-1.318;SOR=0.564	GT:AD:DP:GQ:PL	0/1:137,127:264:99:3043,0,3483	5	0	1	0
chr2	233789904	233789904	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon5:c.C461T:p.S154F	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	.	.	0.000998403	0.0040	0.0011	0.0034	0	0.0612	0.0058	0.0065	0.0026	0.0014295	221	154602	rs141152795	0.0065	0.0062	0.0067	0.0063	0.0069	0.0064	0.0063	0.0067	0.0067	0.0010	0.0013	0.0023	0	0.0209	0.0028	0.0069	0.0052	0.0022	0.0051	0.0051	0.0048	0.0054	0.0071	0.0048	0.0047	0.0066	0.0064	0.0012	0.0066	0.0009	0.0026	0	0.0187	0	0.0071	0.0038	0.0025	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	0.155679	0.17823	N	0.357775	0.795712	0.29174	N	.	.	.	2.74	0.11730	T	-3.12	0.63782	D	0.818	0.83678	-1.1038	0.03661	T	0.062	0.25708	T	8	0.010955572	0.00242	T	.	.	.	0.274	0.59007	.	.	0.260249123532	0.25628	0.6228905632691863	0.62222	2.46197207718E-4	0.00014	.	.	.	0.065751	0.32768	T	-0.223566	0.17509	T	-0.0875156	0.64349	T	0.0158343611239122	0.00371	T	0.79802	0.44234	T	0.16531461	0.36795	0.21548507	0.46140	0.16531461	0.36795	0.21548507	0.46139	-9.47	0.70672	D	.	.	0.897	0.86814	P	.;.	.;.	4.293562	0.65498	24.8	0.99817045495501178	0.90061	0.82229	0.41488	D	AEFDBI	0.458834	0.50969	N	0.32186175946741	0.57272	3.893942	0.356145539269392	0.58878	4.06133	0.141493588581754	0.17281	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	3.647000	0.54144	5.642000	0.49152	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	13.222	0.59321	749	0.51929	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	645.83	37	chr2	233789904	.	C	T	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.226;DP=233;ExcessHet=0;FS=3.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.641;SOR=0.336	GT:AD:DP:GQ:PL	0/1:29,26:55:99:656,0,794	5	0	1	0
chr2	236419198	236419198	T	C	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270585:exon8:c.A1106G:p.Q369R,IQCA1:NM_024726:exon8:c.A1085G:p.Q362R	.	658	857	6	1	0	8	0.00464576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0008	0.0363419	0.0160	0.0025	0.0188	0.1067	0.0083	0.0006	0.0175	0.0305	0.0045989	711	154602	rs3754644	0.0061	0.0061	0.0055	0.0068	0.1164	0.0060	0.0060	0.1134	0.1122	0.0019	0.0278	7.977e-05	0.1164	0.0054	0.0024	0.0002	0.0086	0.0305	0.0083	0.0083	0.0070	0.0096	0.1237	0.0079	0.0077	0.1158	0.1126	0.0026	0	0.0155	0	0.1237	0.0040	0.0034	0.0003	0.0057	0.0398	0.094	0.31383	T	0.193	0.29639	T	0.017	0.17573	B	0.002	0.06944	B	0.197305	0.16690	N	0.571308	1	0.08975	P	.	.	.	-3.19	0.93170	D	-0.3	0.11913	N	0.029	0.01347	-0.8804	0.49730	T	0.005	0.01833	T	9	0.0019504428	0.00027	T	.	.	.	0.181	0.45247	.	.	.	.	0.04755829506110387	0.04698	0.0818412678812	0.09219	0.367023050785	0.20404	T	9.15E-4	0.00471	T	-0.431825	0.01445	T	-0.296346	0.45110	T	0.00487397941715818	0.00052	T	0.390461	0.09684	T	0.047121234	0.08001	0.06595874	0.13445	0.047121234	0.08001	0.06595874	0.13444	-4.842	0.35077	T	.	.	0.093	0.14842	B	.;.	.;.	0.509229	0.08783	5.558	0.60940680663833757	0.06586	0.03981	0.09396	N	AEFGBI	0.044839	0.07264	N	-1.09775849660183	0.06684	0.3084028	-1.11680872447812	0.07378	0.3586908	1.86193992698828E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.52	2.34	0.28071	0.462000	0.21667	1.238000	0.25088	-0.147000	0.12262	0.001000	0.13787	0.004000	0.18990	0.011000	0.09372	0.0:0.0:0.2343:0.7657	6.982	0.23889	988	0.01987	.;.	.	.	.	.	.	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	0.003802	0.000000	0.000000	0.004902	0.000000	0.000000	0.000000	0.027273	0.1667	704.06	29	chr2	236419198	.	T	C	704.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=173;ExcessHet=0.4139;FS=1.023;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0;SOR=0.52	GT:AD:DP:GQ:PL	0/1:12,4:16:91:91,0,371	4	0	2	0
chr2	240783782	240783782	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001244008:exon8:c.G755A:p.S252N,KIF1A:NM_001320705:exon8:c.G755A:p.S252N,KIF1A:NM_001330289:exon8:c.G755A:p.S252N,KIF1A:NM_001330290:exon8:c.G755A:p.S252N,KIF1A:NM_001379631:exon8:c.G755A:p.S252N,KIF1A:NM_001379632:exon8:c.G755A:p.S252N,KIF1A:NM_001379633:exon8:c.G755A:p.S252N,KIF1A:NM_001379634:exon8:c.G755A:p.S252N,KIF1A:NM_001379635:exon8:c.G755A:p.S252N,KIF1A:NM_001379636:exon8:c.G755A:p.S252N,KIF1A:NM_001379637:exon8:c.G755A:p.S252N,KIF1A:NM_001379638:exon8:c.G755A:p.S252N,KIF1A:NM_001379639:exon8:c.G755A:p.S252N,KIF1A:NM_001379640:exon8:c.G755A:p.S252N,KIF1A:NM_001379641:exon8:c.G755A:p.S252N,KIF1A:NM_001379642:exon8:c.G755A:p.S252N,KIF1A:NM_001379645:exon8:c.G755A:p.S252N,KIF1A:NM_001379646:exon8:c.G755A:p.S252N,KIF1A:NM_001379648:exon8:c.G755A:p.S252N,KIF1A:NM_001379649:exon8:c.G755A:p.S252N,KIF1A:NM_001379650:exon8:c.G755A:p.S252N,KIF1A:NM_001379651:exon8:c.G755A:p.S252N,KIF1A:NM_001379653:exon8:c.G755A:p.S252N,KIF1A:NM_004321:exon8:c.G755A:p.S252N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.825179253604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.892	0.49086	P	0.675	0.53279	P	0.000624	0.42799	U	0.243448	1	0.81001	D	3.585	0.93597	H	-1.58	0.81987	D	-2.55	0.58407	D	0.861	0.90251	0.828	0.94753	D	0.765	0.92002	D	10	0.9707978	0.96675	D	0.825179	0.98642	D	0.707	0.89514	0.843	0.94784	0.856394551767	0.85501	0.9977420874183616	0.99773	2.150824523	0.95316	0.779764413834	0.78891	T	0.908021	0.98246	D	0.161623	0.70351	D	-0.00561668	0.69970	D	0.992265641689301	0.82702	D	0.958704	0.86020	D	0.71956587	0.79137	0.69466484	0.82024	0.71956587	0.79138	0.69466484	0.82025	-13.609	0.91717	D	0.9491970964222244	0.98160	0.992	0.96865	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.740032	0.76438	26.5	0.99549718333739579	0.71086	0.77881	0.38346	D	AEFDBCI	0.705702	0.66101	D	0.557794859974276	0.70559	5.519172	0.44735992656668	0.64547	4.712403	0.999999996498318	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	7.670000	0.82907	7.525000	0.59824	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:1.0:0.0:0.0	15.199	0.72808	988	0.01987	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor 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	.	.	.	.	.	.	.	.	0.3	278.59	83	chr2	240783782	.	C	T	278.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.977;DP=475;ExcessHet=1.383;FS=240.41;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.388;SOR=8.932	GT:AD:DP:GQ:PL	0/1:54,25:79:99:188,0,907	2	0	3	1
chr2	241073278	241073278	C	T	exonic	SNED1	.	nonsynonymous SNV	SNED1:NM_001080437:exon27:c.C3830T:p.S1277L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0330149339652	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234525721	9.954e-06	1.163e-05	7.022e-06	1.296e-05	0.0004	5.78e-06	4.52e-06	6.159e-05	2.546e-05	0	2.761e-05	0	0	0	0.0004	1.015e-05	0	0	1.314e-05	1.313e-05	1.284e-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	0.63	0.05152	T	0.386	0.15698	T	0.001	0.07471	B	0.001	0.04355	B	0.641764	0.10592	N	0.803059	1	0.08975	N	-1.79	0.00298	N	-1.62	0.82347	D	-1.22	0.33998	N	0.028	0.01274	-0.9274	0.44516	T	0.157	0.48993	T	10	0.037262797	0.02070	T	0.033015	0.54684	D	0.201	0.48592	.	.	0.19168177325	0.18762	0.17715051848082464	0.17634	0.347992445968	0.36675	0.249187797308	0.03682	T	0.021901	0.16976	T	-0.271417	0.11599	T	-0.627648	0.10594	T	0.131664529442787	0.15535	T	0.716128	0.32863	T	0.03680149	0.04597	0.03256244	0.02011	0.03680149	0.04597	0.03256244	0.02011	-3.605	0.18994	T	.	.	0.064	0.01692	B	.;.	.;.	-0.354364	0.02388	0.264	0.91449987359748963	0.20720	0.04722	0.10417	N	AEFDBHCI	0.054058	0.09796	N	-1.49232879301526	0.01904	0.08353795	-1.43621914655943	0.02897	0.1341397	0.738254653992337	0.23168	0.615465	0.37627	0	0.550933	0.16991	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.94	-0.57	0.11164	-0.230000	0.09093	-6.861000	0.01288	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5249:0.1516:0.3235	5.337	0.15267	981	0.03995	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	531.83	39	chr2	241073278	.	C	T	531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=210;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.015;SOR=1.048	GT:AD:DP:GQ:PL	0/1:14,20:34:99:542,0,311	5	0	1	0
chr3	9365124	9365124	A	T	exonic	THUMPD3	.	nonsynonymous SNV	THUMPD3:NM_001114092:exon2:c.A56T:p.N19I,THUMPD3:NM_015453:exon2:c.A56T:p.N19I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00369233805188	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.72154	D	0.33	0.63109	T	0.01	0.15535	B	0.002	0.06944	B	0.376002	0.13457	N	0.734945	1	0.08975	N	1.445	0.36358	L	1.07	0.39586	T	-1.82	0.97928	N	0.295	0.33360	-1.0334	0.19363	T	0.072	0.29227	T	10	0.069889605	0.10092	T	0.003692	0.08527	T	0.048	0.13305	0.258	0.20002	0.459282285925	0.45551	0.35460081861088105	0.35374	0.102494100127	0.11603	0.465213179588	0.34024	T	0.006106	0.05549	T	-0.11106	0.34595	T	-0.397306	0.33699	T	0.13783087282049	0.16086	T	0.756624	0.37993	T	0.12423188	0.29153	0.10370793	0.24888	0.12423188	0.29153	0.10370793	0.24888	-4.918	0.35937	T	.	.	0.082	0.27851	B	.;.;.;.;.	.;.;.;.;.	2.208722	0.28174	17.71	0.98083520952905667	0.38125	0.21495	0.21422	N	AEFBI	0.076890	0.15477	N	-0.653089260010576	0.17370	0.8932494	-0.601876090958116	0.19445	1.043285	0.999906566176815	0.45458	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	2.97	0.33479	0.507000	0.22383	2.457000	0.32838	0.665000	0.62972	0.004000	0.16614	0.579000	0.25612	0.937000	0.47636	0.7688:0.1499:0.0812:0.0	6.930	0.23613	793	0.45818	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	182.83	33	chr3	9365124	.	A	T	182.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.308;DP=210;ExcessHet=0;FS=1.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-0.625;SOR=0.223	GT:AD:DP:GQ:PL	0/1:25,9:34:99:193,0,837	5	0	1	0
chr3	10238890	10238890	C	A	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1616A:p.A539D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0176375120969	.	.	5.766e-05	0	8.637e-05	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs771281583	1.505e-05	1.505e-05	1.361e-06	2.888e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.052	0.47581	T	0.883	0.48537	P	0.368	0.43478	B	0.712786	0.06267	N	1.176450	1	0.08975	N	1.59	0.40313	L	0.64	0.52867	T	-0.93	0.24898	N	0.257	0.29081	-1.0159	0.25045	T	0.060	0.24981	T	10	0.06566167	0.08892	T	0.017638	0.39418	T	0.071	0.20720	0.163	0.06730	0.450539155747	0.44678	0.3439438281707607	0.34308	0.211066815485	0.23610	0.320164829493	0.13447	T	0.076578	0.35452	T	-0.416006	0.01815	T	-0.575661	0.14935	T	0.212196931242943	0.21068	T	0.594241	0.21993	T	0.113297224	0.26759	0.10379162	0.24912	0.113297224	0.26759	0.10379162	0.24912	-3.028	0.10486	T	.	.	0.101	0.17445	B	.	.	0.966130	0.13426	9.937	0.95156449640267693	0.26296	0.02134	0.06293	N	AEFDBI	0.037541	0.05178	N	-1.01108960740706	0.08373	0.3923567	-1.15248225097837	0.06723	0.3245867	0.999496894970491	0.40007	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	-4.8	0.02957	-0.656000	0.05441	-1.241000	0.05933	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1217:0.1805:0.3592:0.3387	1.960	0.03179	721	0.55360	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1750.83	33	chr3	10238890	.	C	A	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.726;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.589;SOR=0.686	GT:AD:DP:GQ:PL	0/1:51,69:120:99:1761,0,1317	5	0	1	0
chr3	45491562	45491562	A	-	exonic	LARS2	.	frameshift deletion	LARS2:NM_001368263:exon12:c.1285delA:p.A430Pfs*10,LARS2:NM_015340:exon13:c.1285delA:p.A430Pfs*10	Perrault syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2013754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	825.79	35	chr3	45491561	.	GA	G	825.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.324;DP=224;ExcessHet=0;FS=3.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=1.57;SOR=1.387	GT:AD:DP:GQ:PL	0/1:26,28:54:99:836,0,763	5	0	1	0
chr3	45513187	45513187	C	T	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon15:c.C1813T:p.R605C,LARS2:NM_015340:exon16:c.C1813T:p.R605C	Perrault syndrome 4, Autosomal recessive	423	1097	2	0	0	2	0.000910747	.	.	.	1243992	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.666	0.111134762295	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001682	26	154602	rs147745374	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0006	0.0004	5.975e-05	0.0005	0.0005	0.0001	0	0.0012	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.406e-05	0	0.0003	0.0006	0.0002	0	0.0068	0.0002	0.0019	0.0002	0.006	0.65419	D	0.002	0.79402	D	0.999	0.77913	D	0.896	0.63555	P	0.000075	0.52346	D	0.126553	0.999992	0.58761	D	3.04	0.86592	M	-1.07	0.76948	T	-5.49	0.87611	D	0.725	0.72746	0.305	0.87639	D	0.605	0.85991	D	10	0.58040166	0.65817	D	0.111135	0.78880	D	0.666	0.87576	.	.	0.8718642613	0.87062	.	.	0.956921499825	0.72854	0.474689006805	0.35327	T	0.636873	0.88816	D	-0.109888	0.34786	T	-0.0676621	0.65792	T	0.326658754964131	0.26090	T	0.912309	0.68816	D	0.30190182	0.53075	0.2526774	0.50901	0.30190182	0.53075	0.2526774	0.50900	-6.594	0.51007	T	.	.	0.127	0.27069	B	.;.;.;.;.	.;.;.;.;.	5.435656	0.90871	32	0.99906691894109745	0.97726	0.93946	0.59652	D	AEFDBI	0.685572	0.64753	D	0.710078043147858	0.80293	7.262389	0.648572214046727	0.78503	6.889684	0.999974613331022	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	4.23	0.49319	3.051000	0.49576	3.855000	0.40108	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.3511:0.6489:0.0:0.0	11.482	0.49581	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	664.83	34	chr3	45513187	.	C	T	664.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.946;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.64;SOR=0.648	GT:AD:DP:GQ:PL	0/1:33,30:63:99:675,0,864	5	0	1	0
chr3	48415685	48415685	G	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon19:c.C3692T:p.A1231V,PLXNB1:NM_002673:exon19:c.C3692T:p.A1231V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0712695352655	.	.	8.422e-05	0	0.0019	0	0	9.586e-05	0	0	2.59e-05	4	154602	rs754565865	3.2e-05	3.283e-05	1.966e-05	4.466e-05	0.0001	2.439e-05	2.177e-05	5.795e-05	4.33e-05	0	0	0	0	0	0	3.326e-05	0	0.0001	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.408e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.408e-05	0	0	0.33	0.13610	T	0.293	0.22154	T	0.029	0.19866	B	0.114	0.31755	B	0.011151	0.29642	N	0.360538	1	0.81001	D	0.575	0.15311	N	-0.91	0.75001	T	-0.5	0.15782	N	0.159	0.16586	-0.8956	0.48427	T	0.202	0.55891	T	10	0.052037805	0.05177	T	0.07127	0.71225	D	0.115	0.32236	0.39	0.41279	0.518009022472	0.51444	0.5061708831692152	0.50539	0.625447999306	0.56721	0.50171238184	0.39067	T	0.139432	0.47345	T	-0.292187	0.09417	T	-0.372769	0.36566	T	0.0699623823165894	0.08646	T	0.540746	0.18332	T	0.037778664	0.04907	0.05552892	0.09758	0.037778664	0.04906	0.05552892	0.09757	-3.19	0.13621	T	.	.	0.108	0.20430	B	.;.;.	.;.;.	2.990402	0.39923	21.1	0.99328198415677105	0.59661	0.85649	0.44805	D	AEFDBHCI	0.435156	0.49591	N	-0.427680033643379	0.24503	1.32349	-0.251149108069404	0.29731	1.668141	0.999998982858414	0.74766	0.706548	0.73137	0	0.69481	0.67340	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	4.7	0.58776	2.474000	0.44812	5.686000	0.49316	0.676000	0.76740	0.078000	0.22289	0.996000	0.32793	0.677000	0.33454	0.1463:0.0:0.8537:0.0	11.973	0.52364	16	0.98727	IPT domain|IPT domain;IPT domain|IPT domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1458.83	36	chr3	48415685	.	G	A	1458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.959;DP=262;ExcessHet=0;FS=0.941;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=-1.664;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,37:65:99:0|1:48415685_G_A:1469,0,1064:48415685	5	0	1	0
chr3	48415686	48415686	C	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon19:c.G3691T:p.A1231S,PLXNB1:NM_002673:exon19:c.G3691T:p.A1231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.074006914724	.	.	8.403e-05	0	0.0019	0	0	9.558e-05	0	0	1.94e-05	3	154602	rs764937055	3.2e-05	3.42e-05	1.966e-05	4.466e-05	0.0001	2.439e-05	2.177e-05	5.794e-05	4.33e-05	0	0	0	0	0	0	3.326e-05	0	0.0001	1.971e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.721	0.03914	T	0.712	0.05488	T	0.064	0.23455	B	0.174	0.35540	B	0.011151	0.29642	N	0.360538	1	0.81001	D	0.645	0.16088	N	-0.73	0.73100	T	-0.18	0.09796	N	0.074	0.04790	-1.0746	0.08431	T	0.126	0.43174	T	10	0.030372262	0.01164	T	0.074007	0.71935	D	0.054	0.15330	0.462	0.53079	0.435911362372	0.43211	0.41714988997081176	0.41630	0.498716854058	0.48339	0.460022449493	0.33313	T	0.119726	0.44146	T	-0.203047	0.20365	T	-0.529439	0.19341	T	0.0231670753515574	0.01043	T	0.412459	0.10726	T	0.022450626	0.00909	0.035607107	0.02844	0.022450626	0.00909	0.035607107	0.02843	-3.378	0.14762	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	1.339285	0.17456	13.17	0.84025035611169141	0.15054	0.39251	0.26171	N	AEFDBHCI	0.317720	0.42163	N	-1.19917974046889	0.05013	0.2275496	-1.08859180638193	0.07924	0.3874346	0.999705892412401	0.41986	0.706548	0.73137	0	0.69481	0.67340	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	-0.16	0.12720	-0.148000	0.10203	-0.084000	0.12141	-0.773000	0.03420	0.001000	0.13787	0.556000	0.25494	0.548000	0.30127	0.1949:0.2031:0.0:0.6019	4.940	0.13311	16	0.98727	IPT domain|IPT domain;IPT domain|IPT 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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1458.83	36	chr3	48415686	.	C	A	1458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.53;DP=261;ExcessHet=0;FS=0.941;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=-1.617;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,37:65:99:0|1:48415685_G_A:1469,0,1064:48415685	5	0	1	0
chr3	48479246	48479246	C	A	exonic	SHISA5	.	nonsynonymous SNV	SHISA5:NM_001272065:exon3:c.G224T:p.S75I,SHISA5:NM_001272066:exon3:c.G152T:p.S51I,SHISA5:NM_001272067:exon3:c.G152T:p.S51I,SHISA5:NM_016479:exon3:c.G245T:p.S82I,SHISA5:NM_001272068:exon4:c.G152T:p.S51I	.	446	1056	18	2	0	22	0.0103093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00199681	0.0028	0.0001	0.0010	0	0	0.0003	0	0.0170	0.0017076	264	154602	rs373320698	0.0009	0.0009	0.0005	0.0013	0.0130	0.0009	0.0009	0.0123	0.0121	2.99e-05	2.269e-05	0.0001	2.526e-05	0	0.0019	0.0001	0.0009	0.0130	0.0004	0.0004	0.0002	0.0006	0.0101	0.0003	0.0003	0.0079	0.0071	2.405e-05	0	6.531e-05	0	0	0	0	0.0002	0	0.0101	0.168	0.23450	T	0.097	0.67890	T	0.001	0.07471	B	0.001	0.04355	B	0.012167	0.01328	U	4.403440	1	0.08975	N	0.345	0.11182	N	0.91	0.44856	T	-0.73	0.30555	N	0.206	0.23884	-1.0419	0.16741	T	0.047	0.20195	T	10	0.003377825	0.00059	T	.	.	.	0.026	0.05648	.	.	0.0762999501168	0.06990	0.6966147877829882	0.69602	0.254239998198	0.27993	0.290372014046	0.08976	T	0.125924	0.45195	T	-0.613818	0.00120	T	-0.642807	0.09466	T	0.00829142955957786	0.00100	T	0.612539	0.23323	T	0.06723932	0.14542	0.026744682	0.00781	0.06723932	0.14541	0.026744682	0.00780	-5.091	0.41662	T	.	.	0.123	0.27523	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.086829	0.00656	0.018	0.64709053852226939	0.07569	0.01563	0.05111	N	AEFDGBHCI	0.066446	0.13012	N	-1.78090141494797	0.00593	0.02557468	-1.90544503980602	0.00478	0.02115647	1.0	0.98316	0.833774	0.99917	0	0.52208	0.09955	0	0.719019	0.79029	0	0.634344	0.49894	0	.	.	3.52	-7.05	0.01418	-3.665000	0.00448	-1.811000	0.04683	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.3245:0.3293:0.2502	2.779	0.05027	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	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	0	0	0.004036	0.000000	0.000000	0.002924	0.000000	0.000000	0.012195	0.007576	0.08333	1088.83	33	chr3	48479246	.	C	A	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=239;ExcessHet=0;FS=6.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.149;SOR=1.602	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1099,0,722	5	0	1	0
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	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	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	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	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.08333	1030.83	36	chr3	48589399	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.959;DP=263;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.05;SOR=0.544	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1041,0,1245	5	0	1	0
chr3	49178519	49178519	A	T	exonic	C3orf84	.	nonsynonymous SNV	C3orf84:NM_001080528:exon3:c.T161A:p.F54Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0152367207943	.	.	4.309e-05	0	9.029e-05	0.0001	0	4.642e-05	0	0	3.23e-05	5	154602	rs757375378	4.721e-05	4.857e-05	3.404e-05	6.053e-05	0.0001	3.795e-05	3.477e-05	5.401e-05	4.046e-05	2.987e-05	0	0	2.519e-05	0	0	5.217e-05	0	0.0001	2.63e-05	2.627e-05	3.855e-05	1.346e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.764	0.03441	T	0.567	0.08900	T	.	.	.	.	.	.	.	.	.	.	0.99982	0.20203	N	0.98	0.24916	L	0.86	0.46777	T	-0.96	0.25551	N	0.254	0.29544	.	.	.	.	.	.	.	0.11328885	0.21278	T	0.015237	0.35857	T	.	.	.	.	0.188950314367	0.18478	0.0492383888076964	0.04866	0.108556854473	0.12245	.	.	.	0.014432	0.12290	T	-0.466015	0.00901	T	-0.647496	0.09131	T	.	.	.	0.405359	0.10397	T	0.0700635	0.15400	0.055900887	0.09889	0.0700635	0.15400	0.055900887	0.09889	-4.161	0.26185	T	.	.	0.082	0.09045	B	.;.	.;.	1.721726	0.21921	15.40	0.91071561012250257	0.20323	0.37770	0.25837	N	AEFDBI	0.087558	0.17753	N	.	.	.	.	.	.	0.958761620145085	0.28383	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.79	2.24	0.27264	0.288000	0.18695	2.081000	0.30495	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.6127:0.0:0.0:0.3873	6.979	0.23874	0	0.99858	Domain of unknown function with conserved HDNR motif;Domain of unknown function with conserved HDNR motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	788.83	38	chr3	49178519	.	A	T	788.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.06;DP=218;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-1.823;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,21:43:99:0|1:49178519_A_T:799,0,844:49178519	5	0	1	0
chr3	49178520	49178520	A	G	exonic	C3orf84	.	nonsynonymous SNV	C3orf84:NM_001080528:exon3:c.T160C:p.F54L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0227221886607	.	.	4.312e-05	0	9.032e-05	0.0001	0	4.646e-05	0	0	3.23e-05	5	154602	rs779316269	4.721e-05	4.925e-05	3.404e-05	6.053e-05	0.0001	3.795e-05	3.477e-05	5.402e-05	4.046e-05	2.987e-05	0	0	2.519e-05	0	0	5.217e-05	0	0.0001	2.629e-05	3.283e-05	3.854e-05	1.346e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.619	0.05325	T	0.395	0.15255	T	.	.	.	.	.	.	.	.	.	.	0.998174	0.22310	N	1.04	0.26193	L	1.15	0.38236	T	-0.73	0.20576	N	0.183	0.19861	.	.	.	.	.	.	.	0.16061497	0.30148	T	0.022722	0.45634	T	.	.	.	.	0.3085936734	0.30458	0.054079898936030595	0.05349	0.111390099725	0.12571	.	.	.	0.01473	0.12488	T	-0.424001	0.01613	T	-0.587146	0.13914	T	.	.	.	0.522848	0.17081	T	0.11453497	0.27039	0.13031745	0.31316	0.11453497	0.27039	0.13031745	0.31315	-2.897	0.09113	T	.	.	0.516	0.66914	A	.;.	.;.	2.964546	0.39493	21.0	0.78991806070020032	0.12542	0.86583	0.45894	D	AEFDBI	0.409043	0.48048	N	.	.	.	.	.	.	0.999857705128248	0.44174	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.79	4.79	0.60909	3.897000	0.55986	10.675000	0.83557	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	10.663	0.44904	0	0.99858	Domain of unknown function with conserved HDNR motif;Domain of unknown function with conserved HDNR motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	788.83	38	chr3	49178520	.	A	G	788.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.438;DP=219;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-1.575;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,21:43:99:0|1:49178519_A_T:799,0,844:49178519	5	0	1	0
chr3	49422261	49422261	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_000481:exon2:c.G101A:p.R34H,AMT:NM_001164710:exon2:c.G101A:p.R34H,AMT:NM_001164712:exon2:c.G101A:p.R34H	Glycine encephalopathy, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	519417	AMT-related_disorder|not_specified|Glycine_encephalopathy	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.110851774611	0.0002	0.000798722	0.0007	0	0.0008	0.0001	0	0.0011	0.0022	6.056e-05	0.0006792	105	154602	rs138259479	0.0006	0.0006	0.0006	0.0006	0.0026	0.0006	0.0006	0.0016	0.0013	0.0003	0.0014	0.0068	0.0006	0	0.0026	0.0005	0.0009	3.478e-05	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0010	0.0008	0.0002	0	0.0014	0.0055	0.0004	0	0.0136	0.0003	0.0033	0	0.034	0.44694	D	0.086	0.41239	T	0.043	0.21573	B	0.01	0.14941	B	0.086041	0.20609	N	0.458056	0.921099	0.38557	D	1.935	0.51832	L	-2.25	0.87272	D	-2.33	0.51646	N	0.306	0.36674	-0.4394	0.70750	T	0.422	0.76704	T	10	0.009922236	0.00222	T	0.110852	0.78841	D	0.245	0.55201	.	.	0.888630123247	0.88753	0.521916422324907	0.52114	0.259290870821	0.28487	0.547091364861	0.45447	T	0.758974	0.93456	D	-0.283313	0.10319	T	-0.220269	0.52712	T	0.0309152529840393	0.02132	T	0.90021	0.80559	D	0.21066408	0.43370	0.23461767	0.48683	0.29170662	0.52151	0.24508521	0.49988	-7.911	0.61159	D	0.2307966069433357	0.31230	0.104	0.31608	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.145315	0.42554	21.6	0.99192808619031747	0.55024	0.41764	0.26729	N	AEFDGBHCI	0.088845	0.18010	N	-0.542625678991445	0.20715	1.094093	-0.49958238268973	0.22166	1.202601	0.999999980471806	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.528226	0.09195	0	.	.	4.69	1.78	0.23918	0.312000	0.19147	0.630000	0.20219	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.509000	0.29221	0.0:0.682:0.0:0.318	7.665	0.27595	1	0.99630	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	0.004532	0.015152	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1764.83	34	chr3	49422261	.	C	T	1764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.852;DP=324;ExcessHet=0;FS=1.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.399;SOR=0.528	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1775,0,1491	5	0	1	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	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	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1667	310.42	109	chr3	49686750	.	C	G	310.42	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=482;ExcessHet=0.4139;FS=76.682;MLEAC=2;MLEAF=0.167;MQ=48.68;MQRankSum=-5.082;QD=1.57;ReadPosRankSum=-1.025;SOR=3.705	GT:AD:DP:GQ:PL	0/1:67,14:81:99:162,0,1816	4	0	2	0
chr3	49686764	49686764	T	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.A767G:p.N256S	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.123556366319	.	.	0.0007	0.0016	0.0003	0.0006	0	0.0005	0	0.0010	0.0004226	11	26028	rs200307945	6.863e-07	6.704e-05	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	7.438e-05	0.0022	7.925e-05	6.928e-05	0.0001	4.084e-05	3.21e-05	2.373e-05	1.153e-05	7.357e-05	0	0.0001	0	0	0.0002	0	6.064e-05	0	0	0.019	0.50132	D	0.028	0.54934	D	0.919	0.50927	P	0.434	0.45506	B	0.021110	0.26899	N	0.174647	0.999999	0.81001	D	.	.	.	-1.18	0.78314	T	-4.26	0.76174	D	0.858	0.85449	0.555	0.91299	D	0.653	0.87931	D	10	0.7457582	0.75276	D	0.123556	0.80474	D	0.716	0.89922	.	.	0.948330180838	0.94778	0.8698068499494038	0.86945	0.884775936026	0.69930	0.722264707088	0.70377	T	.	.	.	0.0775077	0.61747	D	-0.126442	0.61271	T	0.449991984269792	0.30797	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73467	P	.	.	4.487158	0.70057	25.5	0.99828707284819318	0.91112	0.95135	0.63566	D	AEFBCI	0.948508	0.96021	D	0.820820393681501	0.87389	9.201381	0.795232453656589	0.89459	9.983935	0.999999999999984	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	7.769000	0.84183	7.797000	0.69042	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.066	0.80684	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	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	0.011203	0.014706	0.002762	0.008696	0.000000	0.017544	0.022388	0.008130	0.08333	58.92	116	chr3	49686764	.	T	C	58.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.4;DP=460;ExcessHet=0;FS=70.549;MLEAC=1;MLEAF=0.083;MQ=49.65;MQRankSum=-4.351;QD=0.76;ReadPosRankSum=-0.313;SOR=6.09	GT:AD:DP:GQ:PL	0/1:69,9:78:69:69,0,1953	5	0	1	0
chr3	52331164	52331164	G	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon7:c.G888C:p.Q296H	.	419	1096	7	0	0	7	0.00318327	.	.	.	452887	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|DNAH1-related_disorder|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00474170341598	0.0003	0.000798722	0.0014	0.0002	0.0009	0	0	0.0010	0.0029	0.0037	0.0005369	83	154602	rs200450328	0.0004	0.0004	0.0003	0.0004	0.0024	0.0004	0.0004	0.0021	0.0020	3.011e-05	0.0003	0.0024	0	5.727e-05	0.0017	0.0002	0.0007	0.0024	0.0004	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	2.404e-05	0	0.0014	0.0043	0.0002	0	0	0.0001	0	0.0021	0.148	0.24857	T	0.175	0.29945	T	.	.	.	.	.	.	0.184829	0.03207	N	1.784210	1	0.08975	N	.	.	.	1.92	0.23082	T	-0.65	0.18877	N	0.096	0.07673	-1.0330	0.19490	T	0.056	0.23565	T	10	0.005332947	0.00117	T	0.004742	0.11816	T	0.035	0.08770	0.26	0.20315	0.0716867268079	0.06686	0.4036637919815838	0.40282	0.117407629759	0.13229	0.231293588877	0.02066	T	.	.	.	-0.648682	0.00074	T	-0.70949	0.05322	T	0.00108584191184491	0.00010	T	0.573243	0.20505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31253	B	.	.	0.905833	0.12802	9.316	0.88958610604804456	0.18394	0.08725	0.14612	N	AEFGI	0.116132	0.22804	N	-0.905347017669906	0.10715	0.513452	-0.932202073676558	0.11337	0.5769166	0.0138582938593726	0.12519	0.581397	0.33459	0	0.550933	0.16991	0	0.565031	0.19037	0	0.567892	0.33627	0	.	.	5.11	1.84	0.24348	-1.055000	0.03603	0.650000	0.20403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.2684:0.1131:0.458:0.1604	1.959	0.03177	83	0.96533	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	849.83	34	chr3	52331164	.	G	C	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.361;DP=222;ExcessHet=0;FS=2.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.202;SOR=0.318	GT:AD:DP:GQ:PL	0/1:18,32:50:99:860,0,457	5	0	1	0
chr3	52514771	52514771	C	T	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon35:c.C3749T:p.S1250L	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.121394120645	0.0004	0.00159744	0.0008	0.0006	0	0	0	0.0004	0.0022	0.0037	0.0006598	102	154602	rs143656881	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0030	0.0029	0.0003	0.0001	0.0025	0	0	0.0012	0.0001	0.0008	0.0034	0.0004	0.0004	0.0004	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	0.0003	0	0.0002	0.0043	0.0004	0	0	0.0002	0	0.0029	0.078	0.33923	T	0.002	0.79402	D	0.987	0.61912	D	0.597	0.50647	P	0.006750	0.31824	N	0.304152	0.999999	0.08975	N	2.36	0.67893	M	-1.97	0.85173	D	-4.2	0.75695	D	0.528	0.55713	-0.3284	0.74180	T	0.517	0.81932	D	10	0.01854384	0.00404	T	0.121394	0.80215	D	0.473	0.76619	.	.	0.887762261139	0.88666	0.6647952978417236	0.66416	0.390615677876	0.40274	0.467075228691	0.34279	T	0.447298	0.78961	T	-0.121223	0.32922	T	0.0516218	0.73690	D	0.0455509748204298	0.04703	T	0.879912	0.59649	D	0.22074814	0.44637	0.17490259	0.39919	0.22074814	0.44637	0.17490259	0.39918	-10.033	0.74109	D	.	.	0.131	0.28232	B	.	.	3.730416	0.53359	23.4	0.9987318541521033	0.95076	0.64686	0.32488	D	AEFDBI	0.312864	0.41818	N	0.299983499898893	0.56148	3.779187	0.30860360927753	0.56043	3.767359	0.999906952071557	0.45458	0.67177	0.52595	0	0.578056	0.33634	0	0.603688	0.36954	0	0.711	0.71501	0	.	.	5.72	4.8	0.61157	2.583000	0.45759	4.952000	0.46288	0.599000	0.40250	0.197000	0.24273	0.993000	0.31925	0.091000	0.17840	0.0:0.8299:0.1701:0.0	13.530	0.61076	83	0.96533	FAS1 domain|FAS1 domain	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	758.83	40	chr3	52514771	.	C	T	758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.06;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.162;SOR=0.616	GT:AD:DP:GQ:PL	0/1:27,28:55:99:769,0,784	5	0	1	0
chr3	56633261	56633261	A	G	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_015224:exon11:c.T2219C:p.I740T,TASOR:NM_001363940:exon17:c.T3347C:p.I1116T,TASOR:NM_001365638:exon17:c.T3347C:p.I1116T,TASOR:NM_001112736:exon18:c.T3530C:p.I1177T,TASOR:NM_001365635:exon18:c.T3530C:p.I1177T,TASOR:NM_001365636:exon18:c.T3407C:p.I1136T,TASOR:NM_001365637:exon18:c.T3407C:p.I1136T	.	430	1088	4	0	0	4	0.00183486	.	.	.	3324401	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0026855230373	0.0002	.	0.0003	9.61e-05	0	0	0	0.0001	0	0.0014	0.0002135	33	154602	rs369681222	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0	5.038e-05	0	0.0003	0.0002	0.0002	0.0013	0.0001	0.0001	0.0001	0.0001	0.0010	8.168e-05	6.724e-05	0.0004	0.0003	2.412e-05	0	0	0	0	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.011085	0.29665	N	0.331493	0.999904	0.19781	N	.	.	.	3.01	0.09075	T	0.93	0.01551	N	0.093	0.07262	-0.9325	0.43770	T	0.005	0.01761	T	10	0.008211672	0.00186	T	0.002686	0.05492	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.06777056564221096	0.06715	0.327023257297	0.34843	0.322206676006	0.13755	T	0.003094	0.02494	T	-0.666827	0.00057	T	-0.776179	0.02570	T	0.00795761390339714	0.00094	T	0.554844	0.19218	T	.	.	.	.	.	.	.	.	-2.562	0.06688	T	.	.	0.047	0.00073	B	.;.;.;.	.;.;.;.	1.200306	0.15924	12.20	0.36806430904238813	0.02389	0.11823	0.16884	N	AEFDBCI	0.014884	0.00256	N	-1.02326711371335	0.08122	0.3797577	-0.733114726615899	0.16138	0.8522959	0.0262544513520873	0.13701	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	1.76	0.23776	1.525000	0.35560	4.424000	0.43326	-0.187000	0.09635	0.997000	0.40164	1.000000	0.68203	0.981000	0.58702	0.1979:0.0:0.5605:0.2416	5.495	0.16091	283	0.88803	.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1148.83	33	chr3	56633261	.	A	G	1148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.192;DP=366;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=1.14;SOR=0.889	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1159,0,1429	5	0	1	0
chr3	74302734	74302734	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon13:c.C1742T:p.T581M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.22178053012	.	.	1.672e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs768855847	6.845e-06	6.84e-06	6.81e-06	6.88e-06	5.98e-05	3.46e-06	2.52e-06	9.9e-06	3.7e-06	5.98e-05	2.239e-05	0	2.522e-05	5.619e-05	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.053708	0.999991	0.58761	D	3.57	0.93460	H	-0.26	0.67187	T	-5.56	0.86296	D	0.803	0.79889	0.330	0.88024	D	0.568	0.84336	D	10	0.9240867	0.91759	D	0.221781	0.87822	D	0.637	0.86130	0.719	0.85408	0.853417048237	0.85200	0.531876928926011	0.53112	0.871758984893	0.69428	0.682322502136	0.64602	T	0.427883	0.77720	T	0.180248	0.72065	D	0.104002	0.77174	D	0.99780148267746	0.92464	D	0.979502	0.92959	D	0.7003211	0.78074	0.64536977	0.79267	0.7003211	0.78075	0.64536977	0.79268	-10.668	0.77806	D	.	.	0.582	0.68123	P	.	.	4.450193	0.69175	25.3	0.99845054155958191	0.92489	0.97465	0.74925	D	AEFI	0.822108	0.74252	D	0.60976216286234	0.73790	6.024273	0.452976973860111	0.64908	4.757224	0.0836360015598849	0.15933	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	3.34	0.37357	7.385000	0.79030	8.040000	0.76310	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.2614:0.7386:0.0	15.587	0.76233	908	0.22609	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1016.83	34	chr3	74302734	.	G	A	1016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.915;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.192;SOR=0.641	GT:AD:DP:GQ:PL	0/1:72,44:116:99:1027,0,1796	5	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	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	.	.	.	.	.	.	.	.	0.5	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,37:80:99:0|1:75730450_C_T:1424,0,1668:75730450	0	0	6	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,38:108:99:.:.:988,0,2493:.	0	0	6	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,36:115:99:0|1:75736920_C_A:1274,0,3183:75736920	0	0	6	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,32:110:99:0|1:75736920_C_A:1109,0,3176:75736920	0	0	6	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.4	4768.39	116	chr3	75736981	.	T	C	4768.39	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.623;DP=764;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.4;MQ=51.73;MQRankSum=-7.808;QD=9.28;ReadPosRankSum=-0.63;SOR=0.71	GT:AD:DP:GQ:PL	0/1:83,34:117:99:785,0,2688	1	0	4	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:93,33:126:99:727,0,3009	1	0	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	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	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,43:119:99:.:.:1163,0,2729:.	0	0	5	1
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,38:113:99:0|1:75737092_C_T:1345,0,3029:75737092	0	0	6	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,36:110:99:0|1:75737092_C_T:1289,0,2999:75737092	0	0	6	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,32:104:99:0|1:75737092_C_T:1127,0,2927:75737092	0	0	6	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,27:96:99:0|1:75737092_C_T:926,0,2816:75737092	0	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,17:76:99:0|1:75737092_C_T:536,0,2416:75737092	0	0	6	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:57,65:122:99:2402,0,2131	0	0	6	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,65:128:99:0|1:75737590_A_G:2455,0,2430:75737590	0	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,66:132:99:0|1:75737590_A_G:2573,0,2573:75737590	0	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,62:130:99:0|1:75737590_A_G:2399,0,2669:75737590	0	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,65:131:99:0|1:75737590_A_G:2531,0,2576:75737590	0	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,60:122:99:0|1:75737590_A_G:2333,0,2423:75737590	0	0	6	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,46:120:99:0|1:75737814_C_T:1656,0,2800:75737814	0	0	5	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:104:99:0|1:75737881_T_C:681,0,3172:75737881	1	0	5	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,18:100:99:0|1:75737881_T_C:509,0,3389:75737881	1	0	5	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:75737881_T_C:506,0,3411:75737881	1	0	5	0
chr3	75738785	75738785	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G838A:p.E280K,ZNF717:NM_001290208:exon5:c.G838A:p.E280K,ZNF717:NM_001290209:exon5:c.G688A:p.E230K,ZNF717:NM_001324027:exon5:c.G838A:p.E280K	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00405605309384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194726133	5.728e-05	0.0012	4.804e-05	6.677e-05	0.0004	4.685e-05	4.341e-05	7.739e-05	6.03e-05	3.159e-05	0.0001	0.0002	0	2.038e-05	0.0004	4.83e-05	5.178e-05	0.0001	0.0004	0.0014	0.0005	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	0.0001	0	0.0009	0.0006	0	0	0.0034	0.0006	0.0005	0	0.004	0.65419	D	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.86	0.24285	T	-2.11	0.48020	N	0.221	0.24758	-1.0631	0.10997	T	0.097	0.36367	T	9	0.16211644	0.30390	T	0.004056	0.09650	T	0.138	0.37187	.	.	0.0297737177859	0.01360	0.003683228419625344	0.00344	.	.	0.481650531292	0.36285	T	.	.	.	-0.115877	0.33801	T	-0.404226	0.32892	T	0.655935546124837	0.38718	D	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14155	B	.	.	1.292888	0.16940	12.86	0.99885148237527088	0.96049	0.65625	0.32800	D	AEFDGBCI	.	.	.	-0.0171964525402241	0.41078	2.450655	-0.204118147355341	0.31388	1.77588	0.999999999967345	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.6	1.6	0.22686	2.977000	0.48988	.	.	0.294000	0.18828	0.957000	0.33433	0.000000	0.08366	0.153000	0.20410	0.0:1.0:0.0:0.0	9.305	0.37031	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	369.83	171	chr3	75738785	.	C	T	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=954;ExcessHet=0;FS=2.053;MLEAC=1;MLEAF=0.083;MQ=58.76;MQRankSum=-6.546;QD=2.59;ReadPosRankSum=-1.239;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,18:143:99:0|1:75738767_C_T:380,0,5174:75738767	5	0	1	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:81,11:92:59:59,0,2458	1	0	5	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:43,17:60:99:322,0,1334	0	0	6	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	84.68	104	chr3	99790960	.	T	C	84.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.567;DP=564;ExcessHet=0;FS=67.653;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.592;SOR=6.439	GT:AD:DP:GQ:PL	0/1:78,24:102:93:93,0,1517	3	0	1	2
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	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	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.1667	1110.06	33	chr3	100775231	.	C	G	1110.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=208;ExcessHet=0.4139;FS=0.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.921;SOR=0.899	GT:AD:DP:GQ:PL	0/1:15,13:28:99:342,0,367	4	0	2	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.3	320.64	33	chr3	100775333	.	T	C	320.64	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.783;DP=162;ExcessHet=1.7609;FS=130.533;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=2.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8:21:53:.:.:53,0,206:.	2	0	3	1
chr3	108554425	108554425	T	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon18:c.A2275G:p.I759V	.	561	935	21	5	0	31	0.0163072	.	.	.	2827615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0079	0.00678914	0.0151	0.0016	0.0152	0	0.0157	0.0210	0.0142	0.0136	0.0090684	1402	154602	rs13071874	0.0093	0.0098	0.0090	0.0095	0.0282	0.0092	0.0091	0.0245	0.0231	0.0012	0.0082	0.0216	2.558e-05	0.0118	0.0282	0.0092	0.0097	0.0113	0.0085	0.0085	0.0084	0.0086	0.0128	0.0081	0.0079	0.0108	0.0105	0.0016	0.0022	0.0103	0.0216	0	0.0107	0.0340	0.0114	0.0137	0.0128	0.671	0.04548	T	0.364	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.281368	0.963917	0.26004	N	1.61	0.41143	L	2.59	0.30133	T	-0.16	0.09460	N	0.051	0.03392	-1.0326	0.19618	T	0.031	0.13199	T	10	0.0028879046	0.00046	T	.	.	.	0.108	0.30607	.	.	0.409937222855	0.40610	0.04936724437716958	0.04879	0.123356630989	0.13895	0.384122222662	0.22839	T	0.003201	0.08027	T	-0.639528	0.00084	T	-0.678441	0.07079	T	0.00574206013498265	0.00063	T	0.733327	0.34901	T	0.028787773	0.02270	0.03298957	0.02120	0.028787773	0.02270	0.03298957	0.02120	-3.583	0.20700	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.728230	0.21999	15.44	0.97090227063027923	0.32319	0.68082	0.33669	D	AEFDBIJ	0.104944	0.20982	N	-0.194218152139997	0.33375	1.892736	-0.0284053599549227	0.38438	2.264582	0.999996611189207	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.567339	0.31927	0	.	.	5.15	5.15	0.70287	0.574000	0.23416	4.238000	0.42691	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.1488:0.1508:0.7004	5.505	0.16139	774	0.48577	.;.;.	.	.	.	.	rs13071874	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	0.019657	0.005102	0.027174	0.008772	0.000000	0.034483	0.012195	0.037879	0.08333	637.83	33	chr3	108554425	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.064;DP=224;ExcessHet=0;FS=1.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.026;SOR=0.56	GT:AD:DP:GQ:PL	0/1:26,28:54:99:648,0,606	5	0	1	0
chr3	113395768	113395768	C	T	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon15:c.G1872A:p.M624I,CFAP44:NM_018338:exon15:c.G1872A:p.M624I	.	.	.	.	.	.	.	.	.	.	.	2197131	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00326462848245	7.7e-05	.	5.79e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs368080560	2.192e-05	2.257e-05	2.726e-05	1.652e-05	0.0007	1.586e-05	1.357e-05	0.0005	0.0004	0.0007	4.507e-05	0	0	0	0	0	6.632e-05	1.166e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.149e-05	7.704e-05	0.0003	0.0003	0.0005	0	6.545e-05	0	0	0	0	0	0	0	0.354	0.17761	T	0.284	0.22291	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999925	0.19486	N	.	.	.	2.35	0.16217	T	-0.87	0.23590	N	0.082	0.10056	-1.0138	0.25720	T	0.018	0.07282	T	9	0.03156632	0.01293	T	0.003265	0.07207	T	0.045	0.12272	0.431	0.48007	0.0297737177859	0.01360	0.32070661215944335	0.31983	0.101288994905	0.11461	0.242178037763	0.02990	T	0.012648	0.11078	T	-0.618787	0.00112	T	-0.78389	0.02338	T	0.00698474530170483	0.00079	T	0.610839	0.24364	T	0.054596692	0.10496	0.06644132	0.13609	0.054596692	0.10496	0.06644132	0.13609	-2.109	0.03622	T	.	.	0.135	0.34602	B	.;.	.;.	-0.132866	0.03450	0.636	0.90420906111317556	0.19681	0.04990	0.10763	N	AEFBI	0.058722	0.11038	N	-1.02276912323785	0.08132	0.3802613	-1.01289876224148	0.09500	0.473053	1.25338600466866E-4	0.05386	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.7	-2.53	0.05959	-0.181000	0.09734	-3.942000	0.02438	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.439000	0.27649	0.1077:0.3945:0.1065:0.3913	2.942	0.05478	184	0.92813	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	657.83	34	chr3	113395768	.	C	T	657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.965;DP=236;ExcessHet=0;FS=2.241;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.12;SOR=0.398	GT:AD:DP:GQ:PL	0/1:32,30:62:99:668,0,838	5	0	1	0
chr3	121622528	121622528	A	C	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.A1099C:p.M367L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00738019184968	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs753295687	6.84e-06	6.84e-06	2.722e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	1.799e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.657	0.06576	T	0.002	0.09854	B	0.003	0.08700	B	0.000014	0.62929	D	0.185141	0.860815	0.28358	N	1.79	0.46772	L	0.96	0.42888	T	-0.26	0.11185	N	0.191	0.20925	-1.0354	0.18731	T	0.061	0.25310	T	10	0.03745386	0.02101	T	0.00738	0.19576	T	0.105	0.29889	0.351	0.34922	0.393159880135	0.38930	0.2531493736121035	0.25228	0.0875885386297	0.09886	0.397693455219	0.24748	T	0.015458	0.12960	T	-0.35193	0.04606	T	-0.540646	0.18234	T	0.210293471813202	0.20969	T	0.582642	0.21138	T	0.1544926	0.34964	0.14068247	0.33526	0.1544926	0.34964	0.14068247	0.33526	-1.837	0.02622	T	.	.	0.086	0.10787	B	.	.	1.254250	0.16513	12.59	0.67884851803530966	0.08489	0.21217	0.21323	N	AEFGBI	0.139406	0.26099	N	-0.619337882403867	0.18363	0.952812	-0.493485974826845	0.22332	1.212474	0.225577296667075	0.18406	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.61	3.07	0.34476	0.255000	0.18102	6.828000	0.56686	0.756000	0.94297	0.054000	0.21560	1.000000	0.68203	0.974000	0.55675	0.5618:0.2893:0.0:0.1488	6.176	0.19657	355	0.85216	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1926.83	46	chr3	121622528	.	A	C	1926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=316;ExcessHet=0;FS=0.672;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.107;SOR=0.817	GT:AD:DP:GQ:PL	0/1:56,69:125:99:1937,0,1485	5	0	1	0
chr3	123969175	123969175	G	A	exonic	ROPN1	.	nonsynonymous SNV	ROPN1:NM_001317775:exon5:c.C343T:p.P115S,ROPN1:NM_001317774:exon6:c.C619T:p.P207S,ROPN1:NM_017578:exon7:c.C619T:p.P207S	.	428	1086	7	1	0	9	0.00412655	.	.	.	3309765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.00831542920908	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs372440685	0.0001	0.0001	8.032e-05	0.0001	0.0019	9.05e-05	8.533e-05	0.0011	0.0008	5.975e-05	2.236e-05	0	0	1.872e-05	0.0019	8.184e-05	0.0002	0.0004	8.54e-05	8.532e-05	0.0001	5.374e-05	0.0002	4.956e-05	3.962e-05	9.051e-05	7.014e-05	0	0	6.537e-05	0	0	0	0.0034	0.0002	0	0	0.022	0.48642	D	0.127	0.35082	T	1.0	0.90584	D	0.998	0.88582	D	0.000924	0.41028	D	0.167640	0.992174	0.41574	D	1.155	0.29575	L	1.85	0.24472	T	-1.41	0.34795	N	0.242	0.30347	-1.1060	0.03437	T	0.094	0.35711	T	10	0.2147677	0.38008	T	0.008315	0.22004	T	0.215	0.50805	.	.	0.642644294093	0.63969	0.4296673196248561	0.42883	0.615569297127	0.56032	0.599603533745	0.52848	T	0.002711	0.02105	T	-0.277625	0.10922	T	-0.304501	0.44247	T	0.410415530204773	0.29334	T	0.808919	0.45897	T	0.117149815	0.27622	0.21806064	0.46495	0.117149815	0.27621	0.21806064	0.46494	-2.914	0.09284	T	.	.	0.136	0.29588	B	.;.;.	.;.;.	3.909503	0.56999	23.8	0.99879493766552963	0.95572	0.89809	0.50517	D	AEFBI	0.532700	0.55246	D	0.507838266394222	0.67550	5.09692	0.535349637165123	0.70385	5.497443	0.999590540850768	0.40745	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	4.94	0.64645	5.001000	0.63693	11.687000	0.94301	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	15.541	0.75790	754	0.51307	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.08333	1073.83	37	chr3	123969175	.	G	A	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.903;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.478;SOR=0.644	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1084,0,1415	5	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	341.96	59	chr3	128055734	.	T	C	341.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.037;DP=303;ExcessHet=3.1439;FS=106.99;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=0.655;SOR=7.35	GT:AD:DP:GQ:PL	0/1:29,13:42:99:111,0,656	2	0	4	0
chr3	128264663	128264663	C	T	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon4:c.C668T:p.P223L	.	422	1059	41	0	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0004	0.00219649	0.0020	0.0002	0.0016	0	0.0020	0.0007	0.0055	0.0094	0.0017205	266	154602	rs142548867	0.0011	0.0011	0.0008	0.0014	0.0220	0.0010	0.0010	0.0189	0.0177	0.0002	0.0011	0.0003	0.0001	0.0017	0.0220	0.0003	0.0016	0.0101	0.0008	0.0008	0.0007	0.0010	0.0115	0.0007	0.0007	0.0090	0.0082	0.0001	0	0.0007	0	0	0.0013	0.0102	0.0005	0.0024	0.0115	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.474	0.46883	P	0.000260	0.46924	D	0.223006	0.999902	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-6.54	0.91786	D	0.441	0.47949	-0.8253	0.53600	T	0.154	0.48464	T	10	0.01511088	0.00317	T	.	.	.	0.198	0.48105	.	.	0.69078259148	0.68812	0.4082079854758552	0.40736	0.407012530583	0.41570	0.438673913479	0.30395	T	0.469336	0.80291	T	-0.445083	0.01207	T	-0.404431	0.32870	T	0.100143069804293	0.12373	T	.	.	.	0.55592567	0.70284	0.27926272	0.53893	0.55592567	0.70286	0.27926272	0.53892	-10.686	0.77907	D	.	.	0.126	0.26794	B	.	.	5.229074	0.87771	29.4	0.99511165797480594	0.68618	0.89978	0.50805	D	AEFDBI	0.366235	0.45412	N	0.185205174866161	0.50490	3.238374	0.164767691787827	0.47928	3.015957	0.999442695620509	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.08	4.21	0.48984	4.245000	0.58529	7.652000	0.63756	0.549000	0.26987	0.970000	0.34288	1.000000	0.68203	0.864000	0.41028	0.1475:0.7764:0.0:0.0761	9.689	0.39283	824	0.40336	.	.	.	.	.	.	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	0.016113	0.000000	0.014946	0.046784	0.050000	0.008621	0.003049	0.011364	0.08333	1206.83	35	chr3	128264663	.	C	T	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=285;ExcessHet=0;FS=5.351;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.841;SOR=0.851	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1217,0,1151	5	0	1	0
chr3	132477828	132477828	G	A	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon23:c.G2485A:p.D829N,DNAJC13:NM_001329126:exon24:c.G2500A:p.D834N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.226415094877	.	0.000199681	8.271e-06	0	0	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs540755282	2.738e-06	2.736e-06	0	5.505e-06	3.488e-05	6.4e-07	4.3e-07	9.27e-06	4.57e-06	0	0	0	0	0	0	0	1.657e-05	3.488e-05	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.077	0.34095	T	0.095	0.39492	T	0.994	0.66517	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	-3.8	0.95696	D	-3.85	0.72353	D	0.873	0.87049	0.805	0.94469	D	0.871	0.95704	D	10	0.6988178	0.72313	D	0.226415	0.88043	D	0.692	0.88820	0.46	0.52753	0.66992744583	0.66714	0.5837737883947802	0.58306	0.362154317128	0.37875	0.851346731186	0.89817	D	0.190219	0.54468	T	0.0795329	0.61987	D	-0.022903	0.68837	D	0.889923751354218	0.54068	D	0.956704	0.83523	D	0.4580169	0.64547	0.36535782	0.61886	0.4580169	0.64548	0.36535782	0.61886	-7.242	0.55782	T	.	.	0.275	0.50835	B	.	.	5.045280	0.84001	28.2	0.9991533097645815	0.98379	0.99309	0.94295	D	AEFBI	0.894913	0.83440	D	0.72483228940008	0.81262	7.480679	0.751741828801117	0.86287	8.841105	0.999999999999046	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.336000	0.96435	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.512	0.95136	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	875.83	36	chr3	132477828	.	G	A	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.284;DP=232;ExcessHet=0;FS=3.778;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.07;SOR=1.375	GT:AD:DP:GQ:PL	0/1:32,32:64:99:886,0,855	5	0	1	0
chr3	136855578	136855578	A	G	exonic	SLC35G2	.	nonsynonymous SNV	SLC35G2:NM_001097599:exon2:c.A1118G:p.Y373C,SLC35G2:NM_001097600:exon2:c.A1118G:p.Y373C,SLC35G2:NM_025246:exon2:c.A1118G:p.Y373C	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0016	0.00299521	0.0024	0.0002	0.0014	0	0.0002	0.0016	0.0033	0.0096	0.0021798	337	154602	rs140456008	0.0015	0.0015	0.0013	0.0018	0.0098	0.0015	0.0015	0.0092	0.0090	0.0002	0.0013	0.0036	2.519e-05	0.0001	0.0040	0.0010	0.0017	0.0098	0.0013	0.0013	0.0013	0.0014	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0022	0.0035	0.0004	0.0004	0.0034	0.0015	0.0009	0.0089	0.109	0.29288	T	0.176	0.29843	T	0.941	0.52883	P	0.814	0.58796	P	0.000113	0.50451	D	0.138683	1	0.81001	D	1.25	0.31749	L	0.65	0.52642	T	-1.83	0.42957	N	0.311	0.35194	-0.7761	0.56520	T	0.209	0.56879	T	10	0.008176893	0.00185	T	.	.	.	0.261	0.57352	.	.	0.41337360676	0.40951	0.8087693011032003	0.80831	0.168846747841	0.19038	0.659198641777	0.61294	T	0.142953	0.47881	T	-0.0766298	0.40262	T	0.124257	0.78516	D	0.0505479880015484	0.05596	T	0.892511	0.62902	D	0.093904436	0.22065	0.10239552	0.24541	0.093904436	0.22065	0.10239552	0.24541	-6.292	0.48658	T	.	.	0.074	0.05979	B	.;.	.;.	2.998979	0.40067	21.1	0.95649811999670209	0.27461	0.96100	0.67533	D	AEFDBI	0.800336	0.72635	D	0.508805458413673	0.67608	5.104481	0.515525171385735	0.69034	5.303036	0.999997934410551	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.93	4.75	0.59954	5.888000	0.69501	8.069000	0.76432	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8666:0.0:0.0:0.1334	11.600	0.50254	713	0.56348	EamA domain;EamA domain	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.015152	0.08333	2176.83	86	chr3	136855578	.	A	G	2176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=512;ExcessHet=0;FS=1.375;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.05;SOR=0.551	GT:AD:DP:GQ:PL	0/1:64,75:139:99:2187,0,1692	5	0	1	0
chr3	138130973	138130973	G	A	exonic	A4GNT	.	nonsynonymous SNV	A4GNT:NM_016161:exon2:c.C284T:p.P95L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0306069301562	0.0007	0.000998403	0.0007	9.612e-05	0.0016	0.0001	0	0.0009	0.0022	0.0002	0.0007374	114	154602	rs145157166	0.0008	0.0008	0.0008	0.0007	0.0015	0.0007	0.0007	0.0012	0.0011	0.0002	0.0015	0	7.557e-05	0.0003	0.0009	0.0009	0.0007	0.0001	0.0008	0.0008	0.0007	0.0009	0.0027	0.0007	0.0006	0.0020	0.0018	0.0002	0	0.0027	0	0.0006	9.448e-05	0	0.0009	0.0019	0.0006	0.295	0.14743	T	0.278	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	0.419576	0.04639	N	1.430170	1	0.08975	N	-0.695	0.01866	N	-1.33	0.79854	T	0.0	0.07008	N	0.035	0.01004	-0.9805	0.34886	T	0.190	0.54153	T	10	0.006414026	0.00145	T	0.030607	0.52882	D	0.130	0.35528	.	.	0.0675242888579	0.06100	0.19961081404082556	0.19878	0.107918556532	0.12170	0.190965339541	0.00242	T	7.71E-4	0.00369	T	-0.571727	0.00216	T	-0.629401	0.10461	T	0.0171266561955416	0.00458	T	0.242976	0.03512	T	0.020317988	0.00586	0.030892791	0.01603	0.020317988	0.00586	0.030892791	0.01603	-3.252	0.13126	T	.	.	0.067	0.02518	B	.	.	-0.787445	0.01131	0.052	0.53214075070318567	0.04896	0.02300	0.06612	N	AEFDBI	0.023963	0.01410	N	-1.95360466262816	0.00266	0.01139734	-1.96901578616459	0.00355	0.01569838	0.18385348759789	0.17908	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.27	-5.33	0.02503	-0.711000	0.05121	-1.028000	0.06557	-2.652000	0.00222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3856:0.1929:0.2603:0.1612	0.873	0.01141	572	0.70300	Glycosyltransferase, DXD sugar-binding motif	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	930.83	34	chr3	138130973	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=229;ExcessHet=0;FS=3.866;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.087;SOR=1.284	GT:AD:DP:GQ:PL	0/1:23,31:54:99:941,0,609	5	0	1	0
chr3	138468685	138468687	GTG	-	exonic	ESYT3	.	nonframeshift deletion	ESYT3:NM_001322831:exon13:c.1339_1341del:p.V448del,ESYT3:NM_001322834:exon13:c.1339_1341del:p.V448del,ESYT3:NM_031913:exon13:c.1339_1341del:p.V448del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.000207	32	154602	rs779544415	0.0001	0.0001	8.167e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.349e-05	8.279e-05	0.0023	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1966.79	33	chr3	138468684	.	CGTG	C	1966.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.648;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.87;ReadPosRankSum=-0.395;SOR=0.704	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1977,0,1821	5	0	1	0
chr3	138476236	138476236	G	C	exonic	ESYT3	.	nonsynonymous SNV	ESYT3:NM_001322831:exon21:c.G2482C:p.V828L,ESYT3:NM_001322834:exon21:c.G2482C:p.V828L,ESYT3:NM_031913:exon21:c.G2482C:p.V828L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.00345213795467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.445	0.13140	T	0.926	0.51467	P	0.988	0.77976	D	0.131470	0.18621	U	0.308471	0.965203	0.38453	D	1.675	0.43121	L	3.08	0.08460	T	-1.84	0.43149	N	0.566	0.58968	-1.2172	0.00061	T	0.064	0.26491	T	10	0.6777278	0.71092	D	0.003452	0.07786	T	0.252	0.56159	0.524	0.62818	0.48756061301	0.48390	0.490555728167822	0.48975	0.625226995545	0.56702	0.539850771427	0.44424	T	0.010929	0.09812	T	-0.00907426	0.50395	T	-0.250811	0.49738	T	0.951724886894226	0.63626	D	0.748825	0.36981	T	0.22139624	0.44715	0.22489928	0.47417	0.22139624	0.44715	0.22489928	0.47416	-5.32	0.40140	T	.	.	0.151	0.33458	B	.	.	3.596748	0.50782	23.0	0.99767970559349184	0.85666	0.95300	0.64186	D	AEFBI	0.746442	0.68881	D	0.665568169294737	0.77378	6.663538	0.662731775383178	0.79563	7.108688	0.99999957846749	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	6.782000	0.74848	6.355000	0.55498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.201	0.81889	355	0.85216	C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	645.83	46	chr3	138476236	.	G	C	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.113;DP=238;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.413;SOR=1.151	GT:AD:DP:GQ:PL	0/1:30,23:53:99:656,0,915	5	0	1	0
chr3	140691077	140691077	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon4:c.G1970A:p.R657Q	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0022	0.00339457	0.0036	0.0010	0.0009	0.0177	0.0011	0.0034	0.0066	0.0017	0.0034088	527	154602	rs115301879	0.0030	0.0030	0.0029	0.0030	0.0127	0.0029	0.0029	0.0118	0.0114	0.0009	0.0016	0.0073	0.0127	0.0009	0.0057	0.0028	0.0039	0.0018	0.0032	0.0032	0.0029	0.0035	0.0120	0.0030	0.0029	0.0096	0.0087	0.0008	0	0.0043	0.0055	0.0120	0.0008	0.0034	0.0041	0.0057	0.0012	0.372	0.11478	T	0.558	0.09175	T	0.001	0.07471	B	0.005	0.11217	B	0.692554	0.10163	N	0.843469	0.959129	0.26198	N	-0.345	0.03330	N	0.39	0.57419	T	0.23	0.04613	N	0.248	0.28028	-1.0282	0.21038	T	0.046	0.19919	T	10	0.0063589513	0.00144	T	.	.	.	0.032	0.07718	.	.	0.17258766438	0.16869	0.19188953272759326	0.19106	0.264680432319	0.29017	0.237702786922	0.02587	T	8.82E-4	0.00449	T	-0.585505	0.00178	T	-0.598878	0.12906	T	0.00911997117546362	0.00115	T	0.615039	0.23503	T	0.03390609	0.03701	0.039110765	0.03930	0.03390609	0.03701	0.039110765	0.03929	-4.476	0.30573	T	.	.	0.067	0.02399	B	.	.	1.793081	0.22793	15.76	0.94994453930512179	0.25948	0.26665	0.23058	N	AEFI	0.051698	0.09157	N	-0.88571452205548	0.11182	0.5382381	-0.708105279531111	0.16759	0.8880587	1.19849999141359E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	0.577	0.16569	0.263000	0.18247	0.314000	0.17114	-0.704000	0.03997	0.585000	0.27626	0.005000	0.19230	0.983000	0.59808	0.4283:0.0:0.5717:0.0	8.412	0.31812	554	0.71839	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	0	0	0	1	0	0	0	0.006546	0.005051	0.009511	0.008772	0.000000	0.017241	0.006098	0.000000	0.08333	1217.83	34	chr3	140691077	.	G	A	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=266;ExcessHet=0;FS=2.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.97;SOR=0.604	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1228,0,1049	5	0	1	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T,ATR:NM_001184:exon35:c.T5987C:p.M1996T	Seckel syndrome 1, Autosomal recessive	2	1490	29	1	0	31	0.0102956	.	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided|Seckel_syndrome_1	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	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	0.006546	0.000000	0.000000	0.008772	0.100000	0.000000	0.009146	0.011364	0.08333	1129.83	33	chr3	142493223	.	A	G	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=274;ExcessHet=0;FS=2.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.1;SOR=0.491	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1140,0,1281	5	0	1	0
chr3	146600424	146600424	G	A	exonic	PLSCR5	.	nonsynonymous SNV	PLSCR5:NM_001085420:exon2:c.C53T:p.P18L,PLSCR5:NM_001321245:exon2:c.C53T:p.P18L	.	435	1078	9	0	0	9	0.00415704	.	.	.	3365931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0270101904558	8.4e-05	.	0.0002	0	0.0002	0	0	0.0002	0	0.0004	0.0001488	23	154602	rs200100738	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0025	3.017e-05	0.0002	3.864e-05	0	3.772e-05	0.0042	0.0001	0.0003	0.0002	0.0001	0.0001	0.0002	6.716e-05	0.0002	7.088e-05	5.745e-05	0.0001	9.899e-05	0	0	0	0	0	0	0.0034	0.0002	0.0009	0	0.025	0.51248	D	0.031	0.54541	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.97617	0.39253	D	1.895	0.50365	L	1.86	0.26301	T	-3.44	0.68764	D	0.444	0.48227	-1.0153	0.25240	T	0.071	0.28904	T	9	0.24906585	0.42212	T	0.02701	0.49866	D	0.185	0.45933	.	.	0.44770609447	0.44391	0.3927728729790353	0.39192	0.00442130254442	0.00392	0.409295082092	0.26359	T	0.150335	0.48976	T	-0.342293	0.05231	T	-0.43052	0.29877	T	0.144969686865807	0.16696	T	0.725627	0.33984	T	0.105755866	0.25006	0.16874439	0.38858	0.105755866	0.25006	0.16874439	0.38857	-5.258	0.41596	T	.	.	0.157	0.34819	B	.;.;.	.;.;.	2.983656	0.39806	21.0	0.99077419570028569	0.51882	0.89044	0.49278	D	AEFDI	0.114359	0.22527	N	-0.179158032022192	0.34004	1.935688	-0.195919856809172	0.31687	1.795564	4.63180927223248E-4	0.07066	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.93	4.17	0.48303	2.335000	0.43588	4.526000	0.43706	-0.105000	0.15698	0.994000	0.38300	1.000000	0.68203	0.021000	0.11733	0.1522:0.0:0.8478:0.0	10.481	0.43882	881	0.29269	.;.;.	.	.	.	.	.	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	0.004545	0.005051	0.002725	0.008772	0.000000	0.000000	0.006135	0.000000	0.08333	563.83	36	chr3	146600424	.	G	A	563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=217;ExcessHet=0;FS=6.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.647;SOR=1.222	GT:AD:DP:GQ:PL	0/1:23,22:45:99:574,0,550	5	0	1	0
chr3	151444930	151444930	C	G	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G5051C:p.R1684T,IGSF10:NM_001385060:exon6:c.G5051C:p.R1684T,IGSF10:NM_178822:exon6:c.G5051C:p.R1684T,IGSF10:NM_001385062:exon7:c.G5051C:p.R1684T,IGSF10:NM_001385063:exon7:c.G5051C:p.R1684T	.	432	1088	2	0	0	2	0.000918274	.	.	.	1926653	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.632	0.0700473631754	7.7e-05	0.000199681	0.0002	0	8.703e-05	0.0001	0	0.0002	0.0012	0.0008	0.0001876	29	154602	rs149854696	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0005	0.0003	6.112e-05	2.386e-05	0	7.574e-05	0	0.0011	9.836e-05	0.0003	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.996e-05	2.405e-05	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.007	0.59928	D	0.008	0.67890	D	0.988	0.62325	D	0.932	0.66722	D	0.007439	0.31401	N	0.131561	0.992473	0.41655	D	1.145	0.29067	L	-1.34	0.79944	T	-4.2	0.75695	D	0.688	0.69387	0.006	0.82381	D	0.510	0.81594	D	10	0.4827483	0.60528	T	0.070047	0.70898	D	0.632	0.85872	.	.	0.906709791018	0.90577	0.7328133840573781	0.73226	0.195874411988	0.21946	0.360935628414	0.19522	T	0.147432	0.48552	T	-0.127947	0.31827	T	-0.0280496	0.68498	D	0.284865409135818	0.24375	T	0.777022	0.40965	T	0.22781971	0.45489	0.20458965	0.44590	0.22781971	0.45489	0.20458965	0.44589	-6.565	0.50785	T	.	.	0.206	0.43200	B	.	.	3.345280	0.46112	22.2	0.98367728546121269	0.40719	0.96101	0.67537	D	AEFBI	0.621162	0.60595	D	0.440931827933361	0.63691	4.607726	0.437148944297574	0.63895	4.632735	0.999997732116518	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.86	4.99	0.65942	2.092000	0.41326	1.092000	0.23989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.7187:0.0:0.2813	7.173	0.24905	813	0.42397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	945.04	33	chr3	151444930	.	C	G	945.04	.	AC=2;AF=0.167;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.33;SOR=2.066	GT:AD:DP:GQ:PL	1/1:0,27:27:81:965,81,0	5	1	0	0
chr3	160438796	160438796	G	A	exonic	TRIM59	.	nonsynonymous SNV	TRIM59:NM_173084:exon3:c.C388T:p.P130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0118484392899	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs754222271	1.437e-05	1.436e-05	9.53e-06	1.925e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.23095	T	0.332	0.20228	T	0.926	0.51467	P	0.683	0.53559	P	0.000020	0.62929	D	0.118844	0.522097	0.31561	N	1.275	0.32135	L	1.07	0.39586	T	-2.69	0.63782	D	0.426	0.46555	-0.8823	0.49577	T	0.113	0.40422	T	9	0.21301639	0.37780	T	0.011848	0.29880	T	0.100	0.28662	0.321	0.30064	0.529661991002	0.52613	0.31617106687481494	0.31530	0.351142958433	0.36959	0.568240761757	0.48428	T	0.042252	0.26123	T	-0.35764	0.04264	T	-0.455309	0.27111	T	0.583226084709167	0.35743	D	0.884611	0.60805	D	0.1346589	0.31279	0.1352428	0.32385	0.1346589	0.31278	0.1352428	0.32384	-1.57	0.01913	T	.	.	0.242	0.49606	B	.;.;.;.;.	.;.;.;.;.	4.483351	0.69966	25.5	0.9987631158204604	0.95328	0.85924	0.45115	D	AEFBCI	0.517295	0.54347	D	0.426291186631014	0.62871	4.510509	0.48070970714724	0.66714	4.988023	0.999999951962155	0.74766	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.77	4.89	0.63387	2.499000	0.45032	11.812000	0.96965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.068:0.1226:0.6828:0.1267	7.061	0.24306	754	0.51307	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	965.83	35	chr3	160438796	.	G	A	965.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.514;DP=256;ExcessHet=0;FS=7.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.74;SOR=0.627	GT:AD:DP:GQ:PL	0/1:40,38:78:99:976,0,1081	5	0	1	0
chr3	160439014	160439014	G	A	exonic	TRIM59	.	nonsynonymous SNV	TRIM59:NM_173084:exon3:c.C170T:p.P57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.309285384637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.102983	1	0.81001	D	2.99	0.85699	M	-1.62	0.94508	D	-9.61	0.98796	D	0.971	0.98167	1.040	0.97913	D	0.938	0.97971	D	9	0.9761061	0.97385	D	0.309285	0.91134	D	0.743	0.91112	0.847	0.95025	0.99618256283	0.99613	0.7232791598280857	0.72271	0.38264370552	0.39592	0.739530205727	0.72903	T	0.226	0.59064	T	0.531584	0.95194	D	0.525807	0.95122	D	0.999773323535919	0.98932	D	0.922308	0.85970	D	0.7789849	0.82592	0.7467212	0.85029	0.7789849	0.82594	0.7467212	0.85030	-11.03	0.79823	D	.	.	0.943	0.87972	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.342558	0.89640	31	0.99870922761500558	0.94815	0.98623	0.84820	D	AEFBCI	0.900533	0.84617	D	1.05498654836425	0.97206	15.75042	1.02027581379883	0.98983	20.14156	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.879	0.99870	754	0.51307	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-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	.	.	.	.	.	.	.	.	0.08333	818.83	35	chr3	160439014	.	G	A	818.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.836;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.351;SOR=0.643	GT:AD:DP:GQ:PL	0/1:43,33:76:99:829,0,1393	5	0	1	0
chr3	175755261	175755261	C	T	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon13:c.C2032T:p.R678C	.	.	.	.	.	.	.	.	.	.	.	2355726	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0245376586998	0.0002	0.000199681	9.146e-05	0.0001	0.0003	0	0	9.016e-05	0	6.084e-05	8.41e-05	13	154602	rs375780484	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	8.963e-05	0.0003	0	0	0	0	0.0002	6.627e-05	3.482e-05	0.0001	0.0001	0.0002	5.375e-05	0.0002	8.168e-05	6.724e-05	0.0001	8.878e-05	2.409e-05	0	0.0002	0	0	9.411e-05	0	0.0002	0	0.0002	0.02	0.49613	D	0.075	0.42794	T	0.991	0.64070	D	0.425	0.45259	B	0.068169	0.21690	N	0.486738	1	0.08975	N	1.245	0.31408	L	1.47	0.31987	T	-1.29	0.32387	N	0.22	0.24634	-1.0630	0.11021	T	0.046	0.19879	T	10	0.070068	0.10143	T	0.024538	0.47528	T	0.103	0.29403	.	.	0.332902724076	0.32905	0.4564149375732843	0.45559	0.00460650388097	0.00407	0.258361548185	0.04698	T	0.051213	0.28817	T	-0.397417	0.02407	T	-0.506917	0.21632	T	0.0263902897268757	0.01459	T	.	.	.	0.07823957	0.17806	0.03809779	0.03603	0.07823957	0.17806	0.03809779	0.03603	-8.071	0.61553	D	.	.	0.083	0.09045	B	.	.	1.645532	0.20997	15.00	0.98493613353854637	0.42132	0.07820	0.13815	N	AEFI	0.073752	0.14762	N	-0.388724093829951	0.25869	1.407554	-0.498715101151665	0.22190	1.204003	3.71753549402549E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.71	2.69	0.30923	-0.009000	0.12703	-0.232000	0.10668	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.3795:0.4302:0.1188:0.0716	4.745	0.12409	947	0.11584	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1028.83	36	chr3	175755261	.	C	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=303;ExcessHet=0;FS=1.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-2.153;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,40:102:99:0|1:175755259_T_C:1039,0,1676:175755259	5	0	1	0
chr3	180631496	180631496	C	A	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon14:c.G1971T:p.E657D	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	YES	953400	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.049	0.00282973396555	0.0003	0.000199681	0.0001	0.0013	0	0	0	1.517e-05	0	0	0.0001035	16	154602	rs111451119	5.019e-05	4.994e-05	5.885e-05	4.144e-05	0.0013	4.079e-05	3.753e-05	0.0010	0.0008	0.0013	4.476e-05	0	2.521e-05	0	0	9.002e-07	0.0004	2.322e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.539e-05	0	0.0002	0	0	0	0	0	0.212	0.19500	T	0.127	0.35082	T	0.384	0.34453	B	0.166	0.35067	B	0.000097	0.51296	D	0.168703	0.885558	0.29934	N	1.825	0.47900	L	.	.	.	-1.11	0.28703	N	0.292	0.33030	-1.0300	0.20454	T	0.091	0.34901	T	9	0.021162093	0.00501	T	0.00283	0.05927	T	0.049	0.13647	0.322	0.30226	0.301455362545	0.29754	.	.	0.124896844597	0.14072	0.64540541172	0.59333	T	8.1E-4	0.00397	T	-0.516635	0.00460	T	-0.520435	0.20250	T	0.0450525960272137	0.04612	T	0.666933	0.27600	T	0.08411591	0.19456	0.09704101	0.23083	0.08411591	0.19456	0.09704101	0.23082	-7.289	0.56117	T	.	.	.	.	.	.	.	2.376447	0.30503	18.46	0.9940770537350605	0.63122	0.51269	0.28856	D	AEFDBHCI	0.150302	0.27456	N	-0.0958570609607922	0.37574	2.187963	-0.0336439488967827	0.38205	2.247643	0.999840597844066	0.43971	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	4.87	2.11	0.26299	1.264000	0.32618	0.976000	0.23092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.6654:0.0:0.3346	7.784	0.28247	597	0.68309	.	.	.	.	.	.	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	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1042.83	35	chr3	180631496	.	C	A	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=1.75;SOR=0.704	GT:AD:DP:GQ:PL	0/1:25,41:66:99:1053,0,627	5	0	1	0
chr3	184097546	184097546	T	C	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256613:exon1:c.T17C:p.F6S,HTR3E:NM_198313:exon1:c.T17C:p.F6S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	.	0.00539137	0.0011	0.0268	0	0	0	0	0	0.0001	0.000414	64	154602	rs141876588	0.0005	0.0005	0.0006	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0006	0	0	0	0.0012	4.635e-06	0.0013	8.835e-05	0.0057	0.0057	0.0060	0.0054	0.0203	0.0054	0.0052	0.0192	0.0187	0.0203	0	0.0009	0	0	0	0	2.941e-05	0.0024	0	0.258	0.16683	T	0.409	0.14588	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.12	0.77593	T	0.01	0.06868	N	0.221	0.35194	-1.0001	0.29888	T	0.111	0.39982	T	8	0.002851963	0.00045	T	.	.	.	0.144	0.38394	.	.	0.324161360171	0.32030	.	.	.	.	.	.	.	5.85E-4	0.00238	T	-0.437452	0.01339	T	-0.38489	0.35148	T	0.0149488448467955	0.00319	T	0.204979	0.02394	T	0.051119152	0.09341	0.11011364	0.26547	0.051119152	0.09340	0.11011364	0.26546	-2.55	0.06132	T	.	.	0.104	0.18950	B	.;.	.;.	0.850572	0.12226	8.771	0.84094208226970979	0.15093	0.00648	0.02824	N	AEFDGI	0.026440	0.01987	N	-1.08929741401198	0.06840	0.3159968	-1.20546653196143	0.05821	0.2784674	0.863204157789369	0.25266	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.33	-6.38	0.01784	-0.501000	0.06479	-0.786000	0.07434	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0:0.3301:0.4633:0.2066	6.139	0.19468	648	0.63242	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1356.83	34	chr3	184097546	.	T	C	1356.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.374;DP=272;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.428;SOR=0.54	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1367,0,859	5	0	1	0
chr3	184106595	184106595	T	G	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256614:exon7:c.T1351G:p.L451V,HTR3E:NM_198314:exon7:c.T1273G:p.L425V,HTR3E:NM_182589:exon8:c.T1318G:p.L440V,HTR3E:NM_198313:exon8:c.T1228G:p.L410V,HTR3E:NM_001256613:exon9:c.T1273G:p.L425V	.	417	1104	1	0	0	1	0.000452694	.	.	.	720318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0068	0.00519169	0.0018	0.0174	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0.0016623	257	154602	rs149134892	0.0006	0.0006	0.0007	0.0005	0.0188	0.0006	0.0005	0.0176	0.0171	0.0188	0.0005	0.0006	0.0006	5.616e-05	0.0014	5.576e-05	0.0012	0.0002	0.0055	0.0055	0.0056	0.0054	0.0192	0.0052	0.0050	0.0181	0.0177	0.0192	0	0.0010	0.0006	0.0004	0	0	0.0001	0.0028	0	1.0	0.02372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.038145	0.24318	N	0.297406	1	0.08975	N	-1.145	0.00921	N	-1.56	0.81815	D	1.19	0.01246	N	0.047	0.06059	-0.9205	0.45486	T	0.108	0.39075	T	10	0.0042127967	0.00084	T	.	.	.	0.181	0.45247	.	.	0.508875229312	0.50527	0.11231456028274468	0.11160	0.0571996759005	0.06330	0.317551642656	0.13049	T	9.42E-4	0.00494	T	-0.561691	0.00248	T	-0.565327	0.15880	T	0.0020096774383134	0.00021	T	0.0934907	0.00694	T	0.03469523	0.03943	0.03561062	0.02847	0.03469523	0.03943	0.03561062	0.02846	0.348	0.00325	T	.	.	0.054	0.00793	B	.;.;.;.;.	.;.;.;.;.	0.245752	0.06257	2.709	0.71916439245521535	0.09792	0.03953	0.09355	N	AEFDGI	0.031509	0.03385	N	-0.926962697143147	0.10215	0.4870712	-0.72343518805715	0.16377	0.8661002	0.00115866671105967	0.08283	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.11	0.34883	0.685000	0.25058	1.430000	0.26439	-0.852000	0.02700	0.944000	0.32806	0.943000	0.28828	0.454000	0.27984	0.0:0.1892:0.6146:0.1962	7.171	0.24895	675	0.60470	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2633.83	43	chr3	184106595	.	T	G	2633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-2.629;QD=13.94;ReadPosRankSum=0.434;SOR=0.66	GT:AD:DP:GQ:PL	0/1:86,103:189:99:2644,0,2126	5	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	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	0	0	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.08333	1526.83	40	chr3	184383641	.	C	T	1526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=307;ExcessHet=0;FS=3.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.881;SOR=1.112	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1537,0,1160	5	0	1	0
chr3	185494729	185494729	-	A	exonic	TMEM41A	.	frameshift insertion	TMEM41A:NM_080652:exon4:c.467dupT:p.L158Ifs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.161e-05	9.69e-05	0	0	0	0	0	0.0003	0.0006531	17	26028	rs766594251	1.922e-05	9.85e-05	1.776e-05	2.07e-05	0.0002	1.333e-05	1.148e-05	2.215e-05	1.445e-05	0	2.313e-05	0	0	0	0.0002	1.621e-05	4.988e-05	5.868e-05	2.634e-05	3.284e-05	3.864e-05	1.347e-05	6.555e-05	8.15e-06	5.15e-06	8e-06	2.99e-06	4.826e-05	0	6.555e-05	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	266.79	33	chr3	185494729	.	G	GA	266.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.499;DP=214;ExcessHet=0;FS=3.431;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.126;SOR=0.245	GT:AD:DP:GQ:PL	0/1:17,13:30:99:277,0,421	5	0	1	0
chr3	187698746	187698746	G	A	exonic	RTP2	.	nonsynonymous SNV	RTP2:NM_001004312:exon2:c.C430T:p.R144C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00798886405599	.	.	1.684e-05	0	0	0	0	3.065e-05	0	0	1.29e-05	2	154602	rs778642249	6.363e-05	6.362e-05	7.216e-05	5.501e-05	8.094e-05	5.295e-05	4.911e-05	6.697e-05	6.198e-05	2.987e-05	0	0	0	0	0	8.094e-05	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.051	0.39334	T	0.0	0.92824	D	0.978	0.58756	D	0.799	0.58136	P	0.029599	0.25432	N	0.435417	0.99929	0.46578	D	1.735	0.44892	L	1.88	0.23884	T	-1.87	0.43717	N	0.367	0.40864	-1.1428	0.01257	T	0.087	0.33774	T	10	0.26278293	0.43749	T	0.007989	0.21188	T	0.127	0.34888	0.34	0.33141	0.17948927462	0.17512	0.5939207823445863	0.59322	0.301963139653	0.32530	0.600537180901	0.52981	T	0.181983	0.53384	T	-0.22299	0.17588	T	-0.375939	0.36197	T	0.46584764122963	0.31379	T	0.936706	0.76258	D	0.130065	0.30360	0.102095924	0.24459	0.130065	0.30360	0.102095924	0.24459	-4.217	0.26997	T	.	.	0.263	0.49750	B	.	.	4.239737	0.64268	24.7	0.99860191489241046	0.93911	0.80661	0.40241	D	AEFDGBI	0.323396	0.42560	N	0.347647526931147	0.58616	4.034886	0.329705049767056	0.57291	3.894442	0.888342128639499	0.25786	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	1.787000	0.38336	7.569000	0.60664	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	11.995	0.52490	861	0.33516	Zinc-binding domain|Zinc-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1173.83	37	chr3	187698746	.	G	A	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.5;SOR=0.693	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1184,0,944	5	0	1	0
chr3	193402746	193402746	G	A	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon30:c.C3497T:p.P1166L	.	422	1088	11	1	0	13	0.00593878	.	.	.	733968	not_provided|ATP13A4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0004	0.00359425	0.0013	0.0005	0.0002	0.0001	0	0.0004	0.0011	0.0076	0.001229	190	154602	rs149270045	0.0007	0.0007	0.0005	0.0009	0.0078	0.0007	0.0007	0.0073	0.0071	0.0004	0.0003	0.0050	0.0001	1.872e-05	0.0010	0.0001	0.0010	0.0078	0.0006	0.0006	0.0005	0.0007	0.0102	0.0005	0.0004	0.0079	0.0071	0.0003	0	0.0001	0.0049	0.0006	0	0	7.351e-05	0	0.0102	0.048	0.47745	D	0.0	0.92824	D	0.157	0.28234	B	0.067	0.27542	B	0.000198	0.48115	N	0.089570	0.999985	0.54805	D	2.315	0.66250	M	0.28	0.59037	T	-8.51	0.97315	D	0.324	0.36464	-0.9062	0.47308	T	0.148	0.47433	T	10	0.006216049	0.00140	T	.	.	.	0.135	0.36572	.	.	0.543778624532	0.54031	0.6932985161187066	0.69269	0.141882990403	0.15996	0.360794395208	0.19502	T	0.121402	0.58954	T	-0.41212	0.01924	T	-0.361591	0.37868	T	0.0936805170469291	0.11648	T	0.858114	0.58915	D	0.2206421	0.44624	0.23345727	0.48536	0.2206421	0.44624	0.23345727	0.48535	-5.899	0.62546	T	.	.	0.128	0.36335	B	.;.;.	.;.;.	2.928019	0.38891	20.8	0.9889511675625664	0.48073	0.82306	0.41553	D	AEFI	0.407267	0.47941	N	-0.187330299859526	0.33660	1.912281	-0.100995623605461	0.35350	2.044146	0.00155343378347052	0.08639	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.0	4.12	0.47504	4.672000	0.61290	5.204000	0.47943	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.0878:0.0:0.9122:0.0	11.675	0.50688	529	0.73716	.;.;.	.	.	.	.	.	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	0.004532	0.005051	0.000000	0.000000	0.050000	0.000000	0.012195	0.003788	0.08333	863.83	33	chr3	193402746	.	G	A	863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=240;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.608;SOR=1.002	GT:AD:DP:GQ:PL	0/1:28,33:61:99:874,0,659	5	0	1	0
chr3	193467448	193467448	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon10:c.A982G:p.M328V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0592937816157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.362	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.586288	0.11094	N	0.820998	1	0.08975	N	-1.2	0.00838	N	-2.23	0.87116	D	0.06	0.08495	N	0.142	0.14196	-0.7662	0.57066	T	0.140	0.45997	T	9	0.04404524	0.03318	T	0.059294	0.67614	D	0.149	0.39377	0.398	0.42590	0.28297238246	0.27903	0.4259573891694064	0.42512	0.11650274929	0.13144	0.277720272541	0.07177	T	0.210535	0.57106	T	-0.254806	0.13514	T	-0.603787	0.12494	T	0.0348272048073098	0.02778	T	0.313969	0.06176	T	0.03639636	0.04468	0.04029383	0.04322	0.03639636	0.04468	0.04029383	0.04322	-3.205	0.12603	T	.	.	0.063	0.03849	B	.;.;.	.;.;.	-0.119819	0.03524	0.670	0.52914274318166354	0.04838	0.04570	0.10215	N	AEFI	0.066377	0.12995	N	-1.44002462634593	0.02296	0.1012358	-1.33907742204565	0.03936	0.1846565	1.59728617216004E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.16	-4.72	0.03032	-0.546000	0.06152	-0.177000	0.11169	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.826000	0.38927	0.226:0.2477:0.2299:0.2964	0.282	0.00228	940	0.13648	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	40	chr3	193467448	.	T	C	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=240;ExcessHet=0;FS=3.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.607;SOR=1.275	GT:AD:DP:GQ:PL	0/1:28,29:57:99:763,0,729	5	0	1	0
chr3	194642147	194642147	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon14:c.C1898T:p.A633V	.	425	1096	1	0	0	1	0.000455996	.	.	.	3284405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00557902780135	0.0002	.	0.0002	9.63e-05	0	0.0001	0	0.0003	0	0.0002	0.0001488	23	154602	rs148803086	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	8.961e-05	0.0001	0	0.0001	1.872e-05	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0.0004	9.468e-05	0	0.0003	0	0	0.357	0.12032	T	0.478	0.11968	T	0.012	0.16265	B	0.005	0.11217	B	0.780225	0.06650	N	1.106630	1	0.08975	N	0.73	0.18813	N	2.51	0.14284	T	-0.43	0.14390	N	0.03	0.00717	-0.9605	0.39087	T	0.025	0.10866	T	10	0.023689449	0.00628	T	0.005579	0.14409	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.15424760810213856	0.15345	0.102063321427	0.11557	0.295867085457	0.09787	T	0.003579	0.02990	T	-0.585366	0.00179	T	-0.776893	0.02548	T	0.00860556361517561	0.00105	T	0.475152	0.14192	T	0.08335482	0.19245	0.039863806	0.04177	0.08335482	0.19245	0.039863806	0.04176	-4.553	0.31576	T	.	.	0.073	0.04806	B	.	.	0.491722	0.08608	5.378	0.93071927827416612	0.22687	0.10702	0.16133	N	AEFBI	0.068782	0.13583	N	-1.07241776096976	0.07155	0.3315378	-1.06898374397572	0.08316	0.4083569	0.999614998996799	0.40981	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.94	0.886	0.18329	0.149000	0.16062	1.778000	0.28692	-0.767000	0.03477	0.000000	0.06391	0.006000	0.19429	0.003000	0.05239	0.3514:0.1165:0.5321:0.0	6.629	0.22040	945	0.12563	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1277.83	34	chr3	194642147	.	G	A	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.745;SOR=0.648	GT:AD:DP:GQ:PL	0/1:25,47:72:99:1288,0,548	5	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	158.43	4	chr3	195725265	.	C	T	158.43	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.674;DP=29;ExcessHet=0.6695;FS=0;MLEAC=2;MLEAF=0.25;MQ=28.16;MQRankSum=0.674;QD=11.32;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,3:4:13:84,0,13	2	0	2	2
chr3	195725774	195725774	-	GCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA	exonic	MUC20	.	nonframeshift insertion	MUC20:NM_001282506:exon2:c.1171_1172insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.W400_L536delinsRVSESSASSDSPHPVITPSWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*,MUC20:NM_001291833:exon4:c.658_659insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.S228_W229insRVSESSASSDSPHPVITPS,MUC20:NM_020790:exon4:c.715_716insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.D239_Q536delinsGPHPVITPSRVSESSASSDNGPHPVITPSWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*	.	455	1029	13	0	25	38	0.00627716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.893e-05	8.623e-05	4.832e-05	4.955e-05	0.0006	3.864e-05	3.472e-05	0.0003	0.0003	0	2.776e-05	0.0002	0.0006	0.0002	0	3.416e-05	4.437e-05	3.208e-05	2.75e-05	3.352e-05	2.665e-05	2.841e-05	8.576e-05	4.56e-06	1.71e-06	1.519e-05	6.3e-06	8.576e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2288.76	147	chr3	195725774	.	G	GGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA	2288.76	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.275;DP=728;ExcessHet=0.4139;FS=8.145;MLEAC=1;MLEAF=0.1;MQ=34;MQRankSum=1.07;QD=9.58;ReadPosRankSum=1.05;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,28:134:99:.:.:802,0,4310:.	4	0	1	1
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	480.27	395	chr3	195778964	.	C	*	480.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=1742;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.73;MQRankSum=-3.027;QD=0.36;ReadPosRankSum=-3.167;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:357,58:415:99:.:.:741,0,14053:.	4	0	2	0
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	346.27	398	chr3	195778967	.	G	*	346.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.67;DP=1745;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-3.453;QD=0.26;ReadPosRankSum=-3.161;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:357,58:415:99:.:.:741,0,14053:.	4	0	2	0
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780043	.	G	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1384;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.39;QD=2.66;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,116:322:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:1841,0,8268:195780016	4	0	2	0
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780046	.	A	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1380;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.21;QD=2.66;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,116:322:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:1841,0,8268:195780016	4	0	2	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9665.98	365	chr3	195780499	.	G	*	9665.98	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.097;DP=1387;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=-4.063;QD=9.77;ReadPosRankSum=-4.391;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,171:280:99:0|1:195780461_A_T:6567,0,3843:195780461	5	0	1	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9371.98	360	chr3	195780501	.	C	*	9371.98	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=1373;ExcessHet=1.383;FS=1.158;MLEAC=1;MLEAF=0.083;MQ=53.83;MQRankSum=-4.944;QD=9.61;ReadPosRankSum=-3.137;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,171:276:99:0|1:195780461_A_T:6576,0,3754:195780461	5	0	1	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22851.7	348	chr3	195781628	.	C	*	22851.7	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.53;DP=1844;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.05;MQRankSum=-0.65;QD=14.91;ReadPosRankSum=0.437;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,127:291:99:0|1:195781591_T_*:4568,0,6204:195781591	3	0	3	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1662.49	263	chr3	195782558	.	A	*	1662.49	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.37;DP=1656;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.11;MQRankSum=-5.684;QD=1.7;ReadPosRankSum=2.21;SOR=0.663	GT:AD:DP:GQ:PL	0/1:92,106:271:99:3275,0,4057	3	0	3	0
chr3	195783922	195783922	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7658T:p.A2553V,MUC4:NM_001322468:exon7:c.C7610T:p.A2537V	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00559105	0.0090	0.0143	0.0041	0.0089	0.0316	0.0086	0.0077	0.0032	0.001921	50	26028	rs77250903	0.0005	0.0079	0.0005	0.0005	0.0039	0.0005	0.0004	0.0033	0.0031	0.0025	0.0039	0.0021	0.0003	0.0001	0.0013	0.0003	0.0009	0.0007	0.0018	0.0065	0.0018	0.0019	0.0058	0.0016	0.0016	0.0038	0.0032	0.0034	0	0.0031	0.0039	0.0012	0.0010	0	0.0007	0.0018	0.0058	0.153	0.24372	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32238	T	-0.08	0.08187	N	0.025	0.00485	-1.0223	0.22965	T	0.034	0.14813	T	7	0.0051268935	0.00111	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	4.3488926835127365E-5	0.00003	.	.	0.530101358891	0.43049	T	.	.	.	-0.330876	0.06046	T	-0.713057	0.05139	T	0.00173571957388458	0.00018	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17995	B	.;.	.;.	0.358364	0.07314	3.923	0.98509519110939203	0.42325	0.01809	0.05637	N	AEFBCI	0.064050	0.12414	N	-1.10673507771033	0.06522	0.3004745	-1.2387446223004	0.05300	0.2521837	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.288000	0.18695	-3.139000	0.03028	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	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	0	0	0.006807	0.005376	0.001608	0.009524	0.000000	0.000000	0.003497	0.004630	0.08333	1402.04	388	chr3	195783922	.	G	A	1402.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.259;DP=1718;ExcessHet=0;FS=7.096;MLEAC=1;MLEAF=0.083;MQ=56.45;MQRankSum=-3.956;QD=5.79;ReadPosRankSum=4.53;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,33:242:99:0|1:195783909_G_*:1753,0,8596:195783909	5	0	1	0
chr3	195783932	195783932	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7648A:p.P2550T,MUC4:NM_001322468:exon7:c.C7600A:p.P2534T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	.	0.0027	0.0017	0.0020	0.0029	0.0143	0.0015	0.0038	0.0019	.	.	.	rs774907241	6.836e-05	0.0021	7.191e-05	6.473e-05	0.0006	5.679e-05	5.263e-05	0.0004	0.0003	0.0004	0.0006	8.243e-05	0	4.159e-05	0	4.985e-05	5.402e-05	5.259e-05	0.0007	0.0032	0.0005	0.0008	0.0037	0.0005	0.0005	0.0021	0.0017	0.0009	0	0.0012	0.0003	0	0.0006	0.0053	0.0003	0.0012	0.0037	0.662	0.12754	T	0.699	0.05805	T	.	.	.	.	.	.	.	.	.	.	0.648787	0.32944	D	.	.	.	1.57	0.29602	T	-0.13	0.10656	N	0.059	0.03069	-1.0232	0.22671	T	0.063	0.26208	T	7	0.008828789	0.00200	T	.	.	.	0.087	0.25287	0.164	0.06842	0.0297737177859	0.01360	2.713995472028784E-4	0.00024	.	.	0.547602772713	0.45519	T	.	.	.	-0.387108	0.02808	T	-0.793831	0.02061	T	0.0174871850758791	0.00484	T	0.60154	0.22486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01143	B	.;.	.;.	0.038606	0.04554	1.242	0.93074862299312688	0.22692	0.09977	0.15607	N	AEFBCI	0.070230	0.13934	N	-0.604068092020613	0.18821	0.9802367	-0.826293529166589	0.13859	0.7211866	1.18646128231017E-4	0.05269	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.961000	0.00737	-4.893000	0.01938	-1.552000	0.00961	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1385.04	388	chr3	195783932	.	G	T	1385.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.863;DP=1736;ExcessHet=0;FS=7.184;MLEAC=1;MLEAF=0.083;MQ=56.86;MQRankSum=-4.542;QD=5.45;ReadPosRankSum=4.69;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,33:254:99:0|1:195783909_G_*:2086,0,9073:195783909	5	0	1	0
chr3	195783934	195783934	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7646A:p.S2549N,MUC4:NM_001322468:exon7:c.G7598A:p.S2533N	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000998403	0.0021	0.0004	0	0.0029	0.0105	0.0014	0.0038	0.0015	0.0003622	56	154602	rs542050094	3.846e-05	0.0014	3.797e-05	3.896e-05	0.0005	2.986e-05	2.704e-05	0.0003	0.0003	0.0002	0.0005	8.252e-05	0	4.157e-05	0	2.194e-05	0	2.61e-05	0.0004	0.0027	0.0003	0.0006	0.0038	0.0003	0.0003	0.0022	0.0017	0.0006	0	0.0007	0.0003	0	0.0007	0	0.0002	0.0006	0.0038	0.033	0.44358	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32238	T	-0.35	0.15379	N	0.067	0.05929	-0.9999	0.29945	T	0.029	0.12322	T	7	0.00383538	0.00072	T	.	.	.	0.026	0.05648	0.162	0.06618	0.0138822411134	0.00435	6.537110059732413E-5	0.00005	.	.	0.591621160507	0.51723	T	.	.	.	-0.382425	0.03007	T	-0.787104	0.02246	T	0.02508775530953	0.01283	T	0.725927	0.34027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34470	B	.;.	.;.	0.005022	0.04317	1.092	0.8206261003257137	0.13999	0.00438	0.02140	N	AEFBCI	0.044554	0.07182	N	-1.28928029391541	0.03803	0.1705611	-1.37713091909614	0.03497	0.1632428	1.17037004085678E-5	0.02871	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.076000	0.11374	-3.561000	0.02694	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6241:0.3759:0.0:0.0	3.864	0.08514	601	0.67921	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1374.04	388	chr3	195783934	.	C	T	1374.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.571;DP=1734;ExcessHet=0;FS=7.194;MLEAC=1;MLEAF=0.083;MQ=57.16;MQRankSum=-4.958;QD=5.5;ReadPosRankSum=4.67;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,33:250:99:0|1:195783909_G_*:2257,0,8879:195783909	5	0	1	0
chr3	195783935	195783935	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7645G:p.S2549G,MUC4:NM_001322468:exon7:c.A7597G:p.S2533G	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0021	0.0004	0	0.0029	0.0105	0.0013	0.0038	0.0015	0.0003299	51	154602	rs763665429	3.827e-05	0.0014	3.778e-05	3.877e-05	0.0005	2.972e-05	2.691e-05	0.0003	0.0003	0.0003	0.0005	0	0	2.07e-05	0	1.899e-05	3.567e-05	6.49e-05	0.0004	0.0025	0.0004	0.0005	0.0035	0.0003	0.0003	0.0020	0.0016	0.0006	0	0.0006	0.0003	0	0.0006	0	0.0002	0.0006	0.0035	0.036	0.43393	D	0.111	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	-0.08	0.12283	N	0.035	0.03283	-1.0091	0.27198	T	0.035	0.15074	T	7	0.004244715	0.00085	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	1.0161646330475137E-4	0.00009	.	.	0.551500082016	0.46069	T	.	.	.	-0.368911	0.03650	T	-0.767692	0.02845	T	0.0180913273435993	0.00532	T	0.510149	0.16261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23430	B	.;.	.;.	0.132020	0.05276	1.773	0.45628252790985402	0.03595	0.00649	0.02827	N	AEFBCI	0.041663	0.06363	N	-1.2778630141568	0.03943	0.1770774	-1.36070039343077	0.03681	0.1722212	1.31068601865202E-5	0.02871	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.151000	0.10160	-0.279000	0.10284	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.334:0.0:0.666	3.749	0.08083	601	0.67921	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1373.04	388	chr3	195783935	.	T	C	1373.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.178;DP=1734;ExcessHet=0;FS=7.126;MLEAC=1;MLEAF=0.083;MQ=57.25;MQRankSum=-5.065;QD=5.51;ReadPosRankSum=4.59;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,33:249:99:0|1:195783909_G_*:2281,0,8826:195783909	5	0	1	0
chr3	196472630	196472630	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G905A:p.C302Y	RIDDLE syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00499286151135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268280145	2.737e-06	2.736e-06	1.362e-06	4.128e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.003	0.08700	B	0.194977	0.16748	N	0.592946	0.999885	0.19853	N	1.725	0.44537	L	3.22	0.07024	T	-2.26	0.50502	N	0.114	0.10198	-0.9207	0.45458	T	0.015	0.06282	T	10	0.0623886	0.07970	T	0.004993	0.12598	T	0.046	0.12618	0.349	0.34598	0.323342291347	0.31936	0.10270750105217588	0.10200	0.115743283681	0.13058	0.276723444462	0.07039	T	0.007017	0.06441	T	-0.362484	0.03992	T	-0.657829	0.08413	T	0.0302130436842168	0.02022	T	0.572043	0.20399	T	0.036613684	0.04537	0.08494673	0.19577	0.036613684	0.04537	0.08494673	0.19577	-4.127	0.25687	T	.	.	0.081	0.08129	B	.	.	0.492418	0.08614	5.385	0.24663769466538482	0.01101	0.59598	0.30959	D	AEFBI	0.044685	0.07219	N	-0.713318205008224	0.15647	0.7903664	-0.611369057415954	0.19201	1.029131	2.15830143590011E-4	0.05997	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.14	0.35196	0.389000	0.20478	-0.518000	0.08706	-0.235000	0.07621	0.821000	0.30003	0.000000	0.08366	0.314000	0.24830	0.0:0.6815:0.0:0.3185	7.959	0.29219	830	0.39242	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1895.83	39	chr3	196472630	.	C	T	1895.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=339;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.07;SOR=0.827	GT:AD:DP:GQ:PL	0/1:63,77:140:99:1906,0,1508	5	0	1	0
chr3	196561459	196561459	G	A	exonic	WDR53	.	nonsynonymous SNV	WDR53:NM_001345907:exon2:c.C17T:p.T6M,WDR53:NM_001345906:exon3:c.C17T:p.T6M,WDR53:NM_001345908:exon3:c.C17T:p.T6M,WDR53:NM_001345909:exon3:c.C17T:p.T6M,WDR53:NM_001345910:exon3:c.C17T:p.T6M,WDR53:NM_001345917:exon3:c.C17T:p.T6M,WDR53:NM_001345918:exon3:c.C17T:p.T6M,WDR53:NM_182627:exon3:c.C17T:p.T6M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0639160580207	0.0002	.	0.0001	9.923e-05	8.66e-05	0	0	0.0002	0.0011	0.0001	0.0001229	19	154602	rs148755612	0.0001	0.0001	7.767e-05	0.0001	0.0006	9.101e-05	8.607e-05	0.0002	9.607e-05	0	0	0	0	0	0.0006	0.0001	8.292e-05	0.0001	7.233e-05	7.225e-05	6.426e-05	8.078e-05	0.0002	3.974e-05	3.129e-05	5.292e-05	2.837e-05	7.244e-05	0	0.0002	0	0	0	0	7.351e-05	0	0	0.034	0.44029	D	0.046	0.49120	D	0.943	0.53072	P	0.355	0.42984	B	0.003790	0.34487	N	0.317648	1	0.81001	D	1.935	0.51832	L	-0.75	0.73311	T	-0.19	0.09965	N	0.257	0.29081	-0.6020	0.64735	T	0.276	0.64804	T	10	0.18032834	0.33210	T	0.063916	0.69115	D	0.124	0.34239	.	.	0.748998116933	0.74673	0.18772272066175438	0.18690	0.412975415952	0.42019	0.445170134306	0.31284	T	0.014862	0.12575	T	-0.221279	0.17819	T	-0.2912	0.45648	T	0.0290633362509524	0.01847	T	0.715028	0.32735	T	0.021826362	0.00807	0.03868066	0.03789	0.021826362	0.00807	0.03868066	0.03789	-7.543	0.57912	D	.	.	0.084	0.26700	B	.;.;.	.;.;.	3.409103	0.47284	22.4	0.99854459655682659	0.93368	0.78165	0.38524	D	AEFBI	0.178668	0.30594	N	0.155972239245228	0.49095	3.113777	0.158924034414669	0.47617	2.98924	0.99781633589701	0.36062	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	6.02	3.08	0.34576	0.937000	0.28549	5.122000	0.47594	-0.103000	0.15852	0.728000	0.28902	1.000000	0.68203	0.819000	0.38590	0.0636:0.1058:0.5133:0.3174	6.329	0.20465	804	0.43891	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	802.83	33	chr3	196561459	.	G	A	802.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=240;ExcessHet=0;FS=3.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.077;SOR=1.313	GT:AD:DP:GQ:PL	0/1:36,30:66:99:813,0,915	5	0	1	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	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	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.3333	1894.94	34	chr4	1081428	.	G	C	1894.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.08;DP=187;ExcessHet=0.1336;FS=4.375;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=0.325;SOR=1.22	GT:AD:DP:GQ:PL	0/1:19,18:37:99:566,0,496	3	1	2	0
chr4	1723432	1723432	A	G	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon2:c.A11G:p.Q4R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0648605208433	0.0006	.	0.0007	9.792e-05	0	0.0001	0	0.0012	0	6.227e-05	0.0006145	95	154602	rs145470576	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0002	0.0001	0	0	0.0165	2.519e-05	0	0.0007	8.005e-05	0.0012	4.638e-05	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	6.811e-05	2.851e-05	9.644e-05	0	0	0.0158	0.0004	0	0	8.82e-05	0.0005	0	0.048	0.51248	D	0.036	0.55759	D	0.989	0.62824	D	0.843	0.60313	P	0.089204	0.20439	N	0.399017	0.964693	0.38422	D	2.005	0.54552	M	0.76	0.52416	T	-2.84	0.62151	D	0.527	0.55626	-0.6506	0.62688	T	0.231	0.59670	T	10	0.004968792	0.00107	T	0.064861	0.69406	D	0.135	0.36572	.	.	0.64922787489	0.64631	0.09941457129130962	0.09872	0.277238113227	0.30200	0.308177351952	0.11631	T	0.213549	0.70615	T	-0.311167	0.07646	T	-0.429701	0.29969	T	0.0613882570302075	0.07386	T	0.616038	0.24174	T	0.20778756	0.42995	0.23533086	0.48773	0.20778756	0.42995	0.23533086	0.48772	-4.539	0.31395	T	.	.	0.127	0.39865	B	.;.;.;.;.;.	.;.;.;.;.;.	2.261423	0.28895	17.95	0.99608051359350869	0.74634	0.85424	0.44555	D	ALL	0.280330	0.39417	N	0.292286038609052	0.55758	3.739825	0.212314336258528	0.50529	3.244079	0.999999999948615	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.09	3.88	0.43959	2.931000	0.48625	2.849000	0.35128	0.756000	0.94297	0.992000	0.37556	0.969000	0.29651	0.635000	0.32288	0.8622:0.0:0.0:0.1378	11.182	0.47860	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	651.83	35	chr4	1723432	.	A	G	651.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.821;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.322;SOR=0.914	GT:AD:DP:GQ:PL	0/1:18,26:44:99:662,0,467	5	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	71.99	69	chr4	2662992	.	G	C	71.99	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.278;DP=437;ExcessHet=0;FS=155.759;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.813;SOR=7.7	GT:AD:DP:GQ:PL	0/1:46,25:71:80:80,0,799	3	0	1	2
chr4	6301089	6301089	C	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C1294G:p.L432V,WFS1:NM_006005:exon8:c.C1294G:p.L432V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1483	39	0	0	39	0.0129784	.	.	.	141616	not_provided|Meniere_disease|Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Monogenic_diabetes|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified	MedGen:C3661900|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.631986708747	0.0038	0.00279553	0.0036	0.0006	0.0034	0	0.0002	0.0054	0.0022	0.0020	0.0035963	556	154602	rs35031397	0.0038	0.0038	0.0038	0.0038	0.0147	0.0037	0.0037	0.0122	0.0113	0.0008	0.0044	0.0148	2.519e-05	0.0004	0.0147	0.0039	0.0050	0.0020	0.0031	0.0031	0.0031	0.0031	0.0044	0.0029	0.0028	0.0039	0.0037	0.0008	0.0022	0.0044	0.0141	0.0002	0	0.0238	0.0043	0.0099	0.0008	0.027	0.46513	D	0.013	0.63109	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999822	0.49512	D	2.83	0.82355	M	-3.13	0.92829	D	-2.27	0.50666	N	0.782	0.77883	0.668	0.92777	D	0.792	0.92945	D	10	0.03004542	0.01131	T	0.631987	0.96842	D	0.799	0.93425	.	.	0.954339803291	0.95385	0.8094131245064289	0.80896	.	.	0.549522697926	0.45791	T	0.404214	0.76074	T	-0.020888	0.48728	T	0.200945	0.83179	D	0.040408633033633	0.03765	T	0.882012	0.60217	D	0.15146889	0.34432	0.15146093	0.35677	0.16020355	0.35944	0.15783978	0.36888	-3.917	0.22557	T	0.8131656937764546	0.88769	0.353	0.58446	A	.;.	.;.	3.074315	0.41339	21.3	0.99665888994743779	0.78266	0.91363	0.53383	D	AEFBI	0.483112	0.52369	N	0.579516302491356	0.71896	5.72132	0.509547715557786	0.68631	5.246821	0.818714971318017	0.24485	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	1.740000	0.37852	4.898000	0.45831	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.8975:0.0:0.1025	10.341	0.43062	970	0.06235	.;.	.	.	.	.	.	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	0.012588	0.000000	0.017663	0.000000	0.000000	0.017241	0.009146	0.022727	0.08333	2856.83	146	chr4	6301089	.	C	G	2856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.321;DP=933;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.168;SOR=0.668	GT:AD:DP:GQ:PL	0/1:82,100:182:99:2867,0,2341	5	0	1	0
chr4	8228326	8228326	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2404T:p.R802W,SH3TC1:NM_018986:exon12:c.C2632T:p.R878W	.	405	1069	45	3	0	51	0.0232983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0080	0.00379393	0.0085	0.0024	0.0107	0	0.0017	0.0110	0.0114	0.0079	0.008247	1275	154602	rs116515695	0.0099	0.0099	0.0099	0.0100	0.0162	0.0098	0.0097	0.0135	0.0125	0.0018	0.0120	0.0133	0.0002	0.0026	0.0162	0.0109	0.0094	0.0075	0.0083	0.0083	0.0085	0.0081	0.0155	0.0079	0.0077	0.0139	0.0132	0.0023	0.0022	0.0155	0.0156	0	0.0028	0.0102	0.0116	0.0104	0.0064	0.018	0.50676	D	0.062	0.45318	T	0.864	0.47514	P	0.263	0.39594	B	0.005741	0.32538	N	0.326308	1	0.08975	N	2.885	0.83555	M	-0.26	0.67187	T	-5.73	0.87611	D	0.505	0.53708	-0.8657	0.50849	T	0.112	0.40006	T	10	0.009637147	0.00217	T	.	.	.	0.278	0.59497	.	.	0.484913652648	0.48122	0.46698923295145245	0.46617	0.218053028388	0.24340	0.481912225485	0.36321	T	0.240283	0.60858	T	-0.428911	0.01505	T	-0.375252	0.36277	T	0.1097481939629	0.13398	T	0.847115	0.52772	T	0.059006594	0.11940	0.089378275	0.20897	0.059006594	0.11940	0.089378275	0.20896	-8.491	0.64370	D	.	.	0.108	0.20430	B	.	.	1.805067	0.22940	15.82	0.93402194401286565	0.23161	0.03711	0.08995	N	AEFDBHCI	0.344076	0.43968	N	-1.09239725191294	0.06782	0.3132109	-1.29245337101502	0.04532	0.2139726	0.999999999899822	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.603688	0.36954	0	0.683672	0.66515	0	.	.	4.54	-9.07	0.00619	-0.033000	0.12196	0.036000	0.13800	-0.316000	0.05924	0.001000	0.13787	0.096000	0.22607	0.002000	0.04165	0.2556:0.442:0.0:0.3024	8.168	0.30395	988	0.01987	.	.	.	.	.	rs116515695	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	0.012614	0.015152	0.010870	0.000000	0.000000	0.000000	0.024540	0.015152	0.08333	779.83	58	chr4	8228326	.	C	T	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.565;DP=267;ExcessHet=0;FS=2.913;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.053;SOR=1.349	GT:AD:DP:GQ:PL	0/1:15,27:42:99:790,0,371	5	0	1	0
chr4	8232023	8232023	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2770G:p.M924V,SH3TC1:NM_018986:exon13:c.A2998G:p.M1000V	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0076	0.00439297	0.0075	0.0020	0.0104	0.0001	0.0015	0.0099	0.0088	0.0054	0.0074126	1146	154602	rs146877451	0.0093	0.0093	0.0094	0.0093	0.0147	0.0092	0.0092	0.0122	0.0113	0.0019	0.0110	0.0044	0.0001	0.0024	0.0147	0.0105	0.0088	0.0060	0.0079	0.0079	0.0081	0.0077	0.0169	0.0075	0.0074	0.0152	0.0146	0.0020	0.0022	0.0169	0.0075	0	0.0024	0.0102	0.0112	0.0095	0.0050	1.0	0.00964	T	0.545	0.09588	T	0.001	0.07471	B	0.006	0.12133	B	0.869057	0.07164	N	1.059180	1	0.08975	N	0.885	0.21608	L	-0.9	0.74896	T	-0.59	0.17624	N	0.32	0.36043	-1.0194	0.23910	T	0.133	0.44524	T	10	0.005713284	0.00127	T	.	.	.	0.126	0.34673	.	.	0.407767136052	0.40396	0.19877772153993326	0.19794	0.0269784543744	0.02755	0.347499221563	0.17553	T	0.001755	0.01176	T	-0.421108	0.01683	T	-0.365993	0.37356	T	0.00322139377332797	0.00034	T	0.693931	0.30359	T	0.10272062	0.24275	0.06241503	0.12208	0.10272062	0.24274	0.06241503	0.12208	-6.655	0.51471	T	.	.	0.083	0.09143	B	.	.	-0.771593	0.01164	0.055	0.61548457451166827	0.06736	0.08101	0.14071	N	AEFBCI	0.107787	0.21463	N	-1.03118552391547	0.07962	0.3716787	-1.01041299243722	0.09555	0.4760869	0.999664706146666	0.41534	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	-0.534	0.11289	-0.658000	0.05429	-0.211000	0.10853	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.2259:0.3133:0.3324:0.1283	2.062	0.03375	988	0.01987	.	.	.	.	.	.	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	0.009567	0.010101	0.010870	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	1161.83	33	chr4	8232023	.	A	G	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=328;ExcessHet=0;FS=0.65;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=1.33;SOR=0.587	GT:AD:DP:GQ:PL	0/1:81,55:136:99:1172,0,1916	5	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.08333	1225.83	127	chr4	8614433	.	C	G	1225.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=563;ExcessHet=0;FS=0.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.271;SOR=0.827	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1236,0,1781	5	0	1	0
chr4	41661472	41661472	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon8:c.G1436A:p.G479E,LIMCH1:NM_001330674:exon8:c.G1436A:p.G479E,LIMCH1:NM_001112719:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330793:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330982:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330983:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330786:exon11:c.G1457A:p.G486E,LIMCH1:NM_001289122:exon13:c.G1898A:p.G633E,LIMCH1:NM_001289124:exon13:c.G1421A:p.G474E,LIMCH1:NM_001330791:exon13:c.G1898A:p.G633E,LIMCH1:NM_001330792:exon13:c.G1898A:p.G633E,LIMCH1:NM_001112717:exon14:c.G1934A:p.G645E,LIMCH1:NM_001112718:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330784:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330787:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330788:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330789:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330790:exon14:c.G1934A:p.G645E,LIMCH1:NM_014988:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330672:exon19:c.G3089A:p.G1030E	.	437	1075	10	0	0	10	0.00462963	.	.	.	2359435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.017278060795	0.0002	0.000998403	0.0007	0	0.0015	0	0	0.0005	0	0.0023	0.0006145	95	154602	rs139738687	0.0004	0.0005	0.0004	0.0005	0.0120	0.0004	0.0004	0.0097	0.0089	0.0007	0.0011	0.0003	0	0	0.0120	0.0003	0.0009	0.0019	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0007	7.256e-05	0	0.0013	0.0009	0	0	0.0034	0.0004	0.0029	0.0017	1.0	0.03134	T	1.0	0.01155	T	0.0	0.19866	B	0.005	0.25116	B	0.475741	0.04952	N	1.268860	1	0.08975	N	0.55	0.14455	N	1.03	0.41058	T	-0.84	0.36385	N	0.133	0.17691	-1.0348	0.18920	T	0.072	0.29098	T	10	0.005301237	0.00116	T	0.017278	0.38914	T	0.045	0.12272	.	.	0.273495378476	0.26946	0.17602910183137407	0.17521	0.199855231726	0.22388	0.236144483089	0.02453	T	0.001999	0.15591	T	-0.506419	0.00526	T	-0.506997	0.21623	T	0.00419244470011947	0.00045	T	0.867613	0.56877	D	0.05348158	0.10128	0.07243641	0.15627	0.05348158	0.10127	0.07243641	0.15626	-2.241	0.04958	T	.	.	0.072	0.06942	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.085417	0.04903	1.485	0.49634637687878252	0.04244	0.32322	0.24557	N	AEFGBHCI	0.059624	0.11274	N	-1.15439357667363	0.05708	0.2609212	-1.16725399291273	0.06463	0.3112156	0.992672551104467	0.32927	0.696267	0.57585	0	0.600433	0.49495	0	0.67347	0.61138	0	0.629945	0.49285	0	.	.	5.05	-1.35	0.08638	0.689000	0.25118	0.985000	0.23152	-0.148000	0.12190	0.387000	0.26063	0.410000	0.24754	0.001000	0.02609	0.3495:0.0:0.5064:0.1441	5.266	0.14911	688	0.59122	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.012601	0.000000	0.024457	0.014620	0.050000	0.000000	0.003067	0.003788	0.08333	782.83	33	chr4	41661472	.	G	A	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.792;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.457;SOR=0.776	GT:AD:DP:GQ:PL	0/1:27,33:60:99:793,0,675	5	0	1	0
chr4	47896558	47896558	G	A	exonic	NFXL1	.	nonsynonymous SNV	NFXL1:NM_001278623:exon10:c.C1294T:p.R432C,NFXL1:NM_001278624:exon10:c.C1294T:p.R432C,NFXL1:NM_152995:exon10:c.C1294T:p.R432C	.	430	1084	8	0	0	8	0.00367647	.	.	.	3199169	NFXL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.368	0.0972091449998	0.0035	0.000199681	0.0025	0.0006	0.0011	0	0.0009	0.0042	0	0.0002	0.0024126	373	154602	rs35139099	0.0034	0.0034	0.0035	0.0033	0.0042	0.0033	0.0033	0.0041	0.0040	0.0004	0.0017	0.0004	0	0.0008	0.0017	0.0042	0.0028	0.0004	0.0023	0.0023	0.0026	0.0020	0.0040	0.0021	0.0020	0.0036	0.0035	0.0005	0	0.0021	0.0006	0	0.0013	0	0.0040	0.0024	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	0.14	0.60854	T	-6.76	0.93509	D	0.865	0.86191	-0.2152	0.77279	T	0.335	0.70207	T	10	0.07701364	0.12103	T	0.097209	0.76734	D	0.368	0.68757	.	.	0.962926417621	0.96253	0.5571280347882771	0.55639	1.20430854673	0.80639	0.770583868027	0.77513	T	0.102055	0.40942	T	-0.113301	0.34225	T	0.0643299	0.74532	D	0.0961802798851535	0.11931	T	0.976302	0.91743	D	0.7472992	0.80711	0.6190657	0.77815	0.7472992	0.80713	0.6190657	0.77816	-11.47	0.82173	D	.	.	0.688	0.77353	P	.;.;.	.;.;.	5.864635	0.93869	33	0.99933035821039484	0.99488	0.93910	0.59546	D	AEFBI	0.463620	0.51246	N	0.774008674939467	0.84455	8.293078	0.692239276961129	0.81789	7.60954	0.0456698043794123	0.14661	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	4.22	0.49153	4.196000	0.58203	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.077:0.0:0.7776:0.1455	8.875	0.34495	373	0.84140	Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	508.83	42	chr4	47896558	.	G	A	508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.187;DP=258;ExcessHet=0;FS=3.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.293;SOR=0.521	GT:AD:DP:GQ:PL	0/1:34,23:57:99:519,0,855	5	0	1	0
chr4	48576043	48576043	C	T	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon24:c.G2708A:p.S903N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0494439697129	8.4e-05	.	1.692e-05	0	0	0	0	3.026e-05	0	0	1.29e-05	2	154602	rs372864812	3.434e-06	3.42e-06	0	6.903e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.25154	T	0.228	0.25286	T	0.0	0.22227	B	0.003	0.28043	B	0.001788	0.37998	U	0.248331	0.72503	0.81001	D	1.495	0.37439	L	0.42	0.56937	T	-1.33	0.33197	N	0.243	0.31590	-0.8479	0.52113	T	0.192	0.54492	T	10	0.1485379	0.28127	T	0.049444	0.63815	D	0.152	0.39956	.	.	0.376790727695	0.37294	0.4287136341751686	0.42788	0.237969757966	0.26348	0.593066573143	0.51927	T	0.037108	0.24353	T	-0.238521	0.15538	T	-0.51675	0.20625	T	0.251357346773148	0.22934	T	0.905509	0.67118	D	0.16027993	0.35958	0.12941508	0.31119	0.16027993	0.35958	0.12941508	0.31118	-4.214	0.26954	T	.	.	0.125	0.26607	B	.;.;.	.;.;.	3.498957	0.48948	22.7	0.95050721520800119	0.26067	0.95332	0.64308	D	AEFDBCIJ	0.691381	0.65140	D	-0.0759106935766193	0.38452	2.252256	0.0316032856639839	0.41192	2.470584	0.99999999715671	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	4.680000	0.61346	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	18.861	0.92242	140	0.94439	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	369.83	33	chr4	48576043	.	C	T	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.022;DP=197;ExcessHet=0;FS=3.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.113;SOR=1.55	GT:AD:DP:GQ:PL	0/1:15,17:32:99:380,0,329	5	0	1	0
chr4	51995454	51995454	G	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C1568A:p.A523E	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0618831402051	.	0.000199681	0.0004	0	0	0	0	0	0	0.0026	0.0002911	45	154602	rs573477178	0.0002	0.0002	7.759e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	8.993e-07	0.0002	0.0026	6.569e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.008	0.58626	D	0.038	0.51421	D	0.745	0.43117	P	0.265	0.39681	B	0.141883	0.18262	N	0.464413	1	0.08975	N	1.545	0.39105	L	-1.48	0.81150	T	-2.22	0.49846	N	0.198	0.21839	-0.7697	0.56874	T	0.257	0.62699	T	10	0.00684762	0.00156	T	0.061883	0.68475	D	0.247	0.55478	0.432	0.48171	0.141422826196	0.13715	0.21716891052361245	0.21632	0.041373833253	0.04440	0.270082950592	0.06152	T	0.035542	0.23758	T	-0.350477	0.04698	T	-0.280827	0.46720	T	0.0587370527906906	0.06967	T	0.389261	0.09643	T	0.24026535	0.46928	0.19073656	0.42494	0.24026535	0.46928	0.19073656	0.42493	-3.843	0.21448	T	.	.	0.2	0.42361	B	.	.	1.294876	0.16958	12.87	0.93641397437980445	0.23520	0.09818	0.15487	N	AEFDBI	0.071046	0.14126	N	-0.804007625703936	0.13208	0.6490386	-0.931840472468407	0.11344	0.5773867	0.7700275760245	0.23656	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.21	0.413	0.15619	0.427000	0.21098	1.942000	0.29835	0.618000	0.50648	0.000000	0.06391	0.009000	0.19889	0.001000	0.02609	0.2931:0.164:0.5428:0.0	4.756	0.12459	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2288.83	38	chr4	51995454	.	G	T	2288.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.082;DP=345;ExcessHet=0;FS=1.915;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.632;SOR=0.635	GT:AD:DP:GQ:PL	0/1:83,84:167:99:2299,0,2243	5	0	1	0
chr4	69096588	69096588	G	A	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon1:c.G68A:p.C23Y,UGT2B7:NM_001330719:exon1:c.G68A:p.C23Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00764518485843	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs758225308	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.76473	D	0.998	0.77913	D	0.91	0.71741	D	0.008382	0.30866	U	0.212566	0.999985	0.18198	N	3.505	0.92816	H	0.22	0.59851	T	-7.93	0.97055	D	0.307	0.37197	-0.6243	0.63810	T	0.369	0.72872	T	9	0.38769707	0.54662	T	0.007645	0.20272	T	0.184	0.45763	0.607	0.73945	0.363356657567	0.35953	0.19520745691601044	0.19437	0.213722745734	0.23893	0.41863232851	0.27649	T	0.590001	0.86704	D	-0.137719	0.30252	T	-0.254072	0.49415	T	0.927849948406219	0.59095	D	0.973503	0.94842	D	0.95871013	0.97150	0.92639863	0.96844	0.95871013	0.97150	0.92639863	0.96845	-10.805	0.78577	D	.	.	0.266	0.58901	B	.;.;.	.;.;.	3.627461	0.51366	23.1	0.90660313755497524	0.19912	0.84525	0.43607	D	AEFDBHCI	0.947238	0.95757	D	0.0879390952401803	0.45902	2.838995	-0.155733462587689	0.33188	1.895885	0.999999979412557	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	2.54	1.59	0.22622	2.977000	0.48988	.	.	0.373000	0.20310	0.296000	0.25288	0.122000	0.22912	0.138000	0.19872	0.0:0.5399:0.46:0.0	9.156	0.36158	676	0.60355	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	2165.83	40	chr4	69096588	.	G	A	2165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.076;DP=429;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.11;SOR=0.81	GT:AD:DP:GQ:PL	0/1:127,87:214:99:2176,0,3485	5	0	1	0
chr4	70979150	70979150	C	G	exonic	MOB1B	.	nonsynonymous SNV	MOB1B:NM_173468:exon5:c.C432G:p.F144L,MOB1B:NM_001244766:exon6:c.C447G:p.F149L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.0446643290812	.	0.000199681	8.245e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs537448770	2.19e-05	2.189e-05	2.043e-05	2.339e-05	0.0003	1.585e-05	1.356e-05	0.0003	0.0002	0	0	0	0	0	0.0003	0	0	0.0003	1.314e-05	1.313e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	.	.	.	-5.85	0.88495	D	0.913	0.91505	0.261	0.86925	D	0.567	0.84308	D	9	0.94517875	0.93843	D	0.044664	0.61602	D	0.498	0.78226	0.961	0.99598	0.870820795557	0.86956	0.7943924099786789	0.79392	0.61259746828	0.55850	0.929564833641	0.98963	D	0.369688	0.73436	T	0.223315	0.76090	D	0.413002	0.92526	D	0.985566973686218	0.76521	D	0.90251	0.65969	D	0.8160815	0.84957	0.7030602	0.82499	0.8160815	0.84958	0.7030602	0.82500	-11.728	0.83502	D	.	.	0.999	0.98907	P	.;.	.;.	3.735619	0.53465	23.4	0.99870109964520681	0.94815	0.93327	0.57920	D	AEFGBI	0.382523	0.46437	N	0.69713723295266	0.79444	7.078991	0.58457437081127	0.73834	6.03569	0.997931021417655	0.36211	0.732398	0.92422	0	0.53679	0.11191	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.26	4.42	0.52775	2.024000	0.40670	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8453:0.0:0.1547	10.034	0.41293	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	689.83	33	chr4	70979150	.	C	G	689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.662;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=1.25;SOR=0.616	GT:AD:DP:GQ:PL	0/1:12,27:39:99:700,0,273	5	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	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	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.08333	913.83	34	chr4	73442372	.	A	C	913.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.91;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.08;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,36:70:99:924,0,810	5	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	32.39	39	chr4	82485718	.	G	C	32.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.976;DP=209;ExcessHet=0;FS=42.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.924;SOR=5.653	GT:AD:DP:GQ:PL	0/1:20,8:28:42:42,0,424	5	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,13:33:99:.:.:441,0,786:.	1	3	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,13:33:99:.:.:441,0,786:.	1	3	2	0
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	605.62	35	chr4	87615952	.	GCGA	G	605.62	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.586;DP=113;ExcessHet=0;FS=4.195;MLEAC=1;MLEAF=0.125;MQ=58.82;MQRankSum=-0.31;QD=6.66;ReadPosRankSum=-0.755;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,17:31:99:1|0:87615911_A_C:612,0,536:87615911	3	0	1	2
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1186.42	35	chr4	87615956	.	TAGCAGC	T	1186.42	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.38;DP=110;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=57.61;MQRankSum=1.38;QD=11.19;ReadPosRankSum=0.21;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,17:31:99:.:.:614,0,490:.	4	0	1	1
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	433.66	35	chr4	87615962	.	C	*	433.66	.	AC=5;AF=0.5;AN=10;DP=109;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=54.4;MQRankSum=1.47;QD=4.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,17:31:99:.:.:614,0,490:.	2	2	1	1
chr4	88436928	88436928	A	C	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon18:c.A2333C:p.D778A,HERC6:NM_017912:exon19:c.A2441C:p.D814A	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00764746963329	0.0030	0.00219649	0.0022	0.0003	0.0007	0.0002	0.0018	0.0027	0.0011	0.0040	0.0022057	341	154602	rs77703113	0.0031	0.0031	0.0030	0.0032	0.0052	0.0031	0.0030	0.0048	0.0046	0.0008	0.0007	0.0052	7.611e-05	0.0017	0.0023	0.0033	0.0025	0.0052	0.0022	0.0022	0.0022	0.0021	0.0037	0.0020	0.0019	0.0031	0.0030	0.0006	0	0.0007	0.0081	0.0004	0.0006	0	0.0035	0.0009	0.0037	0.128	0.26965	T	0.173	0.30241	T	0.112	0.27347	B	0.019	0.22329	B	0.446787	0.04792	N	1.331910	1	0.08975	N	1.455	0.36767	L	1.07	0.39586	T	-4.26	0.76174	D	0.394	0.43514	-1.0499	0.14425	T	0.043	0.18451	T	10	0.0058585703	0.00131	T	0.007647	0.20299	T	0.116	0.32463	.	.	0.385578977469	0.38175	0.14228820830661637	0.14151	0.330719497895	0.35150	0.266767144203	0.05723	T	0.00611	0.05549	T	-0.493644	0.00621	T	-0.481458	0.24292	T	0.0147490318806332	0.00308	T	0.446155	0.12501	T	0.17309174	0.38037	0.1552933	0.36408	0.17309174	0.38037	0.1552933	0.36407	-11.728	0.84522	D	.	.	0.109	0.23883	B	.;.	.;.	1.630960	0.20822	14.93	0.94878007144657628	0.25707	0.41061	0.26574	N	AEFBI	0.073730	0.14757	N	-0.835618691560002	0.12406	0.6045722	-0.834692125299726	0.13655	0.7095907	0.00456896855272219	0.10618	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.95	-0.482	0.11476	2.564000	0.45593	2.610000	0.33572	0.683000	0.82448	0.203000	0.24344	1.000000	0.68203	0.156000	0.20513	0.5336:0.1642:0.3022:0.0	4.54	0.11453	739	0.53257	.;HECT domain|HECT domain|HECT domain|HECT 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	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	157.83	32	chr4	88436928	.	A	C	157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=157;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.296;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,7:19:99:168,0,288	5	0	1	0
chr4	88487133	88487133	T	C	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon15:c.T1916C:p.L639P	.	.	.	.	.	.	.	.	.	.	.	2765498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0312620701662	.	.	5.971e-05	0	0	0	0	6.23e-05	0	0.0002	5.17e-05	8	154602	rs573916867	5.35e-05	5.472e-05	4.232e-05	6.477e-05	0.0006	4.355e-05	4.028e-05	0.0002	0.0002	2.995e-05	4.475e-05	0	0	0	0.0006	3.696e-05	4.98e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.069	0.35537	T	0.06	0.45744	T	0.102	0.25827	B	0.067	0.27542	B	0.135089	0.18493	N	0.430143	0.955899	0.38564	D	1	0.25136	L	-1.07	0.76948	T	0.03	0.10308	N	0.409	0.45047	-0.7634	0.57220	T	0.265	0.63630	T	10	0.2009036	0.36154	T	0.031262	0.53383	D	0.441	0.74447	0.627	0.76254	0.725946090427	0.72351	0.6269993717378657	0.62632	0.771200395479	0.64771	0.494559705257	0.38071	T	0.008561	0.07851	T	-0.0613188	0.42700	T	-0.0464216	0.67266	D	0.0116838216781616	0.00179	T	0.518148	0.18433	T	0.046345983	0.07740	0.050834462	0.08060	0.046345983	0.07740	0.050834462	0.08059	-5.538	0.42222	T	.	.	0.110	0.29697	B	.;.	.;.	0.814306	0.11854	8.421	0.96526521460611303	0.30136	0.08342	0.14284	N	AEFBI	0.065426	0.12761	N	-0.667901432079233	0.16941	0.8675219	-0.668363723643196	0.17753	0.9454204	0.214342033445717	0.18278	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.33	3.12	0.34986	0.474000	0.21858	0.484000	0.18835	0.502000	0.22824	0.006000	0.17386	0.186000	0.23459	0.309000	0.24713	0.0:0.0997:0.201:0.6993	4.495	0.11247	823	0.40596	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1000.83	33	chr4	88487133	.	T	C	1000.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.655;DP=284;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.561;SOR=0.812	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1011,0,1478	5	0	1	0
chr4	89953411	89953411	G	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.G3680T:p.R1227L,MMRN1:NM_001371403:exon9:c.G3680T:p.R1227L	.	435	1079	8	0	0	8	0.00369344	.	.	.	2820033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.704	.	0.0048	0.00459265	0.0034	0.0092	0.0048	0	0.0002	0.0036	0.0108	0.0006	0.0033893	524	154602	rs147451161	0.0023	0.0024	0.0023	0.0023	0.0182	0.0023	0.0022	0.0154	0.0143	0.0066	0.0065	0.0270	0	0.0002	0.0182	0.0015	0.0066	0.0005	0.0048	0.0048	0.0048	0.0048	0.0092	0.0045	0.0044	0.0080	0.0075	0.0075	0	0.0092	0.0302	0	0.0002	0.0204	0.0021	0.0090	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000010	0.62929	D	0.000000	0.977947	0.46733	D	1.5	0.37844	L	-2.05	0.85799	D	-3.89	0.73579	D	0.704	0.87265	0.400	0.89097	D	0.633	0.87131	D	10	0.010451436	0.00232	T	.	.	.	0.704	0.89376	.	.	0.928513143006	0.92778	0.723997401901554	0.72343	0.0867948037447	0.09792	0.685833334923	0.65106	T	0.437702	0.78363	T	-0.0756161	0.40425	T	0.124297	0.78519	D	0.0235939277011258	0.01094	T	0.89481	0.64041	D	0.52166826	0.68355	0.4430225	0.67533	0.52166826	0.68356	0.4430225	0.67533	-6.173	0.47704	T	.	.	0.890	0.84549	P	.;.;.	.;.;.	4.504053	0.70476	25.5	0.99760481233316733	0.85011	0.98264	0.81063	D	AEFDBI	0.819297	0.74035	D	0.611869349107216	0.73923	6.046213	0.555673810495086	0.71794	5.709302	0.98018772161836	0.30108	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	6.367000	0.73038	10.909000	0.84175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.651	0.88066	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q 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	0.021148	0.055556	0.025815	0.017544	0.000000	0.008621	0.003049	0.003788	0.08333	306.83	39	chr4	89953411	.	G	T	306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-1.562;SOR=0.614	GT:AD:DP:GQ:PL	0/1:24,12:36:99:317,0,683	5	0	1	0
chr4	102315811	102315811	A	G	exonic	SLC39A8	.	nonsynonymous SNV	SLC39A8:NM_001135148:exon2:c.T38C:p.I13T,SLC39A8:NM_022154:exon2:c.T239C:p.I80T,SLC39A8:NM_001135146:exon3:c.T239C:p.I80T,SLC39A8:NM_001135147:exon3:c.T239C:p.I80T	Congenital disorder of glycosylation, type IIn, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.0547269526892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.095	0.39492	T	0.454	0.36182	P	0.235	0.38432	B	0.000005	0.62929	D	0.059639	0.999973	0.53665	D	1.04	0.26193	L	-0.63	0.73523	T	-2.34	0.52776	N	0.759	0.76296	-0.0336	0.81554	T	0.500	0.81096	T	10	0.81113684	0.80396	D	0.054727	0.65965	D	0.629	0.85718	0.743	0.87486	0.509303607079	0.50571	0.7574058626543675	0.75688	1.52008781448	0.87410	0.744469761848	0.73631	T	0.048175	0.27941	T	0.314568	0.84084	D	0.214078	0.83876	D	0.952965259552002	0.63916	D	0.812919	0.46506	T	0.15637036	0.35291	0.21945827	0.46686	0.15637036	0.35290	0.21945827	0.46685	-8.167	0.62202	D	0.32473927401986685	0.42288	0.913	0.83704	P	.;.;.	.;.;.	3.928592	0.57408	23.9	0.99237757057739706	0.56437	0.97000	0.72113	D	AEFBI	0.790297	0.71923	D	0.417550413400364	0.62387	4.453799	0.482127056741689	0.66807	5.000307	0.999999590624202	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.36	5.36	0.76624	6.628000	0.74125	10.938000	0.84325	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	14.536	0.67551	923	0.18507	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1666.04	33	chr4	102315811	.	A	G	1666.04	.	AC=2;AF=0.167;AN=12;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.75;SOR=1.781	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1686,167,0	5	1	0	0
chr4	113354704	113354704	T	G	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.T6086G:p.V2029G	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0286702887082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.001	0.83351	D	.	.	.	.	.	.	0.273879	0.03789	N	1.555020	0.999999	0.08975	N	0.745	0.18958	N	-0.33	0.68474	T	-2.84	0.59873	D	0.094	0.13911	-0.9946	0.31405	T	0.215	0.57692	T	9	0.07202044	0.10694	T	0.02867	0.51308	D	0.068	0.19811	.	.	0.433847406099	0.43006	0.10532806005537113	0.10462	0.103297151089	0.11683	0.22677116096	0.01737	T	0.439285	0.78462	T	-0.136746	0.30408	T	-0.434202	0.29460	T	0.104405984282494	0.12834	T	0.465553	0.13627	T	0.19362557	0.41080	0.24311325	0.49748	0.19362557	0.41080	0.24311325	0.49746	-3.322	0.14022	T	0.12191335677195375	0.11623	0.074	0.05145	B	.;.	.;.	0.341076	0.07149	3.728	0.78075348530033739	0.12145	0.18078	0.20110	N	AEFBI	0.200773	0.32748	N	-0.979640985447426	0.09039	0.4261737	-1.05040319997707	0.08699	0.4289843	0.999710124545336	0.42101	0.446893	0.09132	0	0.491513	0.07743	0	0.463624	0.06942	0	0.530356	0.10902	0	.	.	5.53	-1.75	0.07598	-0.390000	0.07392	-0.307000	0.10069	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.788000	0.37229	0.0:0.3237:0.2209:0.4554	6.547	0.21611	643	0.63827	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.125	31.68	34	chr4	113354704	.	T	G	31.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.059;DP=294;ExcessHet=0;FS=34.24;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.322;SOR=4.608	GT:AD:DP:GQ:PL	0/1:33,9:42:40:40,0,785	3	0	1	2
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	45.68	41	chr4	134199956	.	C	T	45.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.334;DP=291;ExcessHet=0;FS=26.142;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.506;SOR=4.82	GT:AD:DP:GQ:PL	0/1:38,14:52:54:54,0,618	3	0	1	2
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,20:56:99:0|1:140563137_C_G:249,0,1119:140563137	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,20:56:99:0|1:140563137_C_G:249,0,1119:140563137	0	0	6	0
chr4	143187879	143187879	C	T	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon2:c.C736T:p.L246F,USP38:NM_032557:exon2:c.C736T:p.L246F	.	429	1092	1	0	0	1	0.000457666	.	.	.	4094049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0224088172508	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866210305	4.79e-06	4.788e-06	2.723e-06	6.877e-06	2.988e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.988e-05	0	0	0	1.873e-05	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.044	0.63918	D	0.992	0.64738	D	0.839	0.60107	P	0.000292	0.46274	D	0.085998	0.999878	0.50225	D	2.045	0.56016	M	0.96	0.42888	T	-1.86	0.45404	N	0.612	0.62866	-0.8257	0.53575	T	0.176	0.51974	T	10	0.37747425	0.53942	T	0.022409	0.45296	T	0.061	0.17616	0.22	0.14224	0.500488203797	0.49686	0.3439566903169494	0.34309	0.546934130114	0.51673	0.686873555183	0.65256	T	0.094569	0.39443	T	-0.0994531	0.36516	T	-0.380634	0.35647	T	0.889133751392365	0.53981	D	0.907509	0.67274	D	0.36581692	0.58274	0.19834225	0.43661	0.36581692	0.58274	0.19834225	0.43660	-5.996	0.46313	T	.	.	0.355	0.56869	A	.;.	.;.	5.547942	0.92026	32	0.99896275182867555	0.96895	0.77735	0.38256	D	AEFDGBI	0.195049	0.32210	N	0.526762337247954	0.68678	5.250319	0.514711539352014	0.68979	5.295355	0.999995595108857	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.657601	0.63696	0	.	.	5.2	4.35	0.51454	2.235000	0.42690	4.870000	0.45558	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.719:0.0:0.281	7.025	0.24113	803	0.44167	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1424.06	38	chr4	143187879	.	C	T	1424.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=338;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=0.783;SOR=0.725	GT:AD:DP:GQ:PL	0/1:56,34:90:99:825,0,1424	4	0	2	0
chr4	166099403	166099403	G	A	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon20:c.G2783A:p.R928Q	Atrial septal defect 6, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2414105	Atrial_septal_defect_6|not_provided|TLL1-related_disorder	MONDO:MONDO:0013123,MedGen:C2751315,OMIM:613087,Orphanet:1478|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.00873841127277	0.0010	0.000998403	0.0006	0.0003	0.0005	0.0001	0.0002	0.0008	0.0011	6.056e-05	0.0005757	89	154602	rs116616112	0.0006	0.0006	0.0006	0.0006	0.0012	0.0006	0.0005	0.0007	0.0007	0.0001	0.0010	0	2.521e-05	0.0001	0.0012	0.0007	0.0006	8.117e-05	0.0006	0.0006	0.0008	0.0004	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0.0044	0.0005	0	0.0002	0.0002	0	0.0010	0.0005	0.0004	0.177	0.23541	T	0.306	0.20100	T	0.729	0.44062	P	0.395	0.47621	B	0.013347	0.28869	U	0.323587	0.981555	0.39790	D	1.565	0.39561	L	2.27	0.17431	T	-0.6	0.17834	N	0.438	0.47672	-1.1490	0.01055	T	0.044	0.18948	T	10	0.033042967	0.01470	T	0.008738	0.23074	T	0.222	0.51872	.	.	0.503063991398	0.49945	0.3162779438732847	0.31540	0.426674521669	0.43039	0.344030320644	0.17039	T	0.043531	0.26531	T	-0.415716	0.01822	T	-0.433303	0.29561	T	0.037443054339881	0.03234	T	0.793521	0.43550	T	0.14457048	0.33178	0.106167816	0.25534	0.14457048	0.33178	0.106167816	0.25534	-6.871	0.53085	T	.	.	0.087	0.11414	B	.;.	.;.	4.651916	0.74163	26.1	0.99866210506431563	0.94457	0.98009	0.78839	D	AEFI	0.922621	0.89787	D	0.289271167855838	0.55604	3.724431	0.303693461057577	0.55755	3.738462	0.380373065547268	0.19955	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	4.89	0.63387	6.817000	0.75042	4.922000	0.46051	0.672000	0.70159	1.000000	0.71638	0.968000	0.29604	0.003000	0.05239	0.0:0.1275:0.8725:0.0	18.449	0.90643	874	0.30607	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1138.83	33	chr4	166099403	.	G	A	1138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.86;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.425;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1149,0,1575	5	0	1	0
chr4	168139524	168139524	C	T	exonic	ANXA10	.	nonsynonymous SNV	ANXA10:NM_007193:exon3:c.C139T:p.R47C	.	437	1008	71	6	0	83	0.0395426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	0.0043	0.00658946	0.0077	0.0007	0.0014	0	0.0023	0.0078	0.0122	0.0222	0.0072185	1116	154602	rs111362741	0.0057	0.0058	0.0049	0.0065	0.0217	0.0056	0.0056	0.0209	0.0205	0.0006	0.0019	0.0136	0.0001	0.0031	0.0148	0.0049	0.0067	0.0217	0.0046	0.0046	0.0044	0.0048	0.0234	0.0043	0.0042	0.0199	0.0186	0.0005	0	0.0018	0.0142	0	0.0027	0.0034	0.0066	0.0043	0.0234	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.938	0.67350	D	0.001107	0.40219	N	0.211827	0.999991	0.58761	D	3.255	0.89877	M	2.64	0.12780	T	-7.05	0.93856	D	0.721	0.72299	-0.9796	0.35094	T	0.084	0.32929	T	10	0.009128243	0.00206	T	.	.	.	0.256	0.56694	.	.	0.465038187318	0.46130	0.81682934986423	0.81638	0.350543890961	0.36897	0.3914103508	0.23867	T	0.104133	0.41341	T	-0.337168	0.05586	T	-0.240175	0.50781	T	0.0607729894804198	0.07290	T	0.934107	0.75346	D	0.5716051	0.71148	0.5231502	0.72450	0.5716051	0.71150	0.5231502	0.72451	-9.039	0.67948	D	.	.	0.358	0.57091	A	.	.	4.892365	0.80333	27.3	0.99907038915296165	0.97726	0.86418	0.45694	D	ALL	0.395577	0.47238	N	0.593391845017597	0.72762	5.856912	0.478414431137515	0.66563	4.968259	0.999999999979975	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	4.85	0.62375	3.998000	0.56736	5.926000	0.51241	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1424:0.8576:0.0:0.0	15.067	0.71673	975	0.05339	.	.	.	.	.	.	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	0.011593	0.010101	0.004076	0.008772	0.050000	0.017241	0.018405	0.015152	0.08333	639.83	37	chr4	168139524	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.383;DP=250;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.16;SOR=0.532	GT:AD:DP:GQ:PL	0/1:38,30:68:99:650,0,1016	5	0	1	0
chr5	192256	192256	C	T	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.C718T:p.R240W	.	427	1094	1	0	0	1	0.00045683	.	.	.	4160728	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0212389285348	8e-05	.	0.0001	0	0.0006	0	0	0.0001	0.0027	0	5.82e-05	9	154602	rs377130453	0.0001	0.0001	0.0001	0.0001	0.0003	9.221e-05	8.721e-05	0.0002	0.0002	0	4.653e-05	0	0	0	0	0.0001	3.359e-05	0.0003	3.282e-05	3.937e-05	2.569e-05	4.028e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.015	0.52492	D	0.02	0.58613	D	0.997	0.70673	D	0.648	0.52381	P	0.232320	0.15893	N	0.651527	1	0.08975	N	1.5	0.37844	L	0.6	0.53731	T	-3.16	0.64246	D	0.285	0.32259	-0.9123	0.46569	T	0.192	0.54463	T	10	0.21805635	0.38436	T	0.021239	0.43978	T	0.133	0.36157	.	.	0.389596023526	0.38570	0.4655510411962424	0.46474	0.602039044817	0.55232	0.435776978731	0.30000	T	0.066939	0.33072	T	-0.339934	0.05392	T	-0.435925	0.29265	T	0.326973050832748	0.26103	T	0.894311	0.63332	D	0.14725848	0.33672	0.19091831	0.42521	0.14725848	0.33672	0.19091831	0.42521	-6.761	0.52268	T	.	.	0.121	0.25166	B	.	.	2.860667	0.37796	20.6	0.99669257803353761	0.78458	0.19858	0.20823	N	AEFDGBCI	0.401343	0.47587	N	-0.271553114810775	0.30252	1.685047	-0.36296543611438	0.26111	1.440165	0.999917094546583	0.45857	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	3.54	0.39650	0.678000	0.24956	1.022000	0.23413	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.295000	0.24381	0.3032:0.6968:0.0:0.0	12.549	0.55563	867	0.32089	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1789.83	34	chr5	192256	.	C	T	1789.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.87;DP=295;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.6;SOR=0.864	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1800,0,1307	5	0	1	0
chr5	618996	618996	T	G	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon2:c.T89G:p.L30R	.	436	1085	1	0	0	1	0.000460617	.	.	.	2311258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.00845172351543	.	.	4.123e-05	0	0	0	0	2.999e-05	0.0011	0.0001	5.17e-05	8	154602	rs745962439	1.717e-05	1.71e-05	1.094e-05	2.346e-05	0.0002	1.179e-05	9.96e-06	7.144e-05	5.496e-05	0	0	0	0	0	0.0002	8.131e-06	6.642e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.98	0.74843	D	0.000081	0.52346	D	0.080822	0.993966	0.42113	D	2.38	0.68558	M	1.47	0.31987	T	-3.58	0.69118	D	0.855	0.85132	-0.9484	0.41245	T	0.121	0.42208	T	10	0.96088153	0.95497	D	0.008452	0.22357	T	0.414	0.72479	0.802	0.92089	0.545475791818	0.54202	0.7579926188907801	0.75747	0.424414455339	0.42871	0.748805642128	0.74271	T	0.396187	0.75488	T	-0.0767899	0.40235	T	-0.0559311	0.66615	D	0.895860910415649	0.54749	D	0.627737	0.24333	T	0.6304544	0.74322	0.516641	0.72072	0.6304544	0.74324	0.516641	0.72073	-12.941	0.89118	D	.	.	0.693	0.72675	P	.	.	4.224316	0.63925	24.6	0.99682286546443166	0.79307	0.89649	0.50249	D	AEFDBCI	0.510494	0.53952	D	0.417816794798607	0.62402	4.455496	0.392556619481928	0.61104	4.306132	0.999999999967476	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	4.029000	0.56964	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:0.0:0.0:1.0	12.985	0.57988	929	0.16858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	976.83	33	chr5	618996	.	T	G	976.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.089;DP=232;ExcessHet=0;FS=4.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=1.46;SOR=0.284	GT:AD:DP:GQ:PL	0/1:20,41:61:99:987,0,486	5	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC 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	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1667	86.06	43	chr5	840546	.	A	G	86.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.14;DP=882;ExcessHet=0.4139;FS=8.623;MLEAC=2;MLEAF=0.167;MQ=58.52;MQRankSum=-13.13;QD=0.12;ReadPosRankSum=-1.758;SOR=1.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,14:186:60:0|1:840529_G_C:60,0,6930:840529	4	0	2	0
chr5	13859595	13859595	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon30:c.C4807A:p.P1603T	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1513	8	1	0	10	0.00329381	.	.	.	521032	DNAH5-related_disorder|Primary_ciliary_dyskinesia_3|not_provided|Primary_ciliary_dyskinesia	.|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.544	.	.	0.00599042	0.0027	9.615e-05	0.0002	0	0	0	0.0011	0.0197	0.0024062	372	154602	rs369137751	0.0012	0.0012	0.0007	0.0016	0.0184	0.0011	0.0011	0.0176	0.0173	2.988e-05	6.708e-05	0	0	0	0.0007	7.196e-06	0.0014	0.0184	0.0008	0.0008	0.0004	0.0011	0.0239	0.0006	0.0006	0.0203	0.0190	0	0	0	0	0	0	0	0	0	0.0239	0.003	0.68238	D	.	.	.	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.04	0.96988	H	0.08	0.61559	T	-7.34	0.94594	D	0.871	0.86833	0.448	0.89805	D	0.576	0.84694	D	10	0.015208662	0.00319	T	.	.	.	0.544	0.81018	.	.	0.893911037781	0.89286	0.6982850765530428	0.69769	0.45399419746	0.45084	0.550978839397	0.45995	T	0.700706	0.91380	D	-0.124498	0.32390	T	0.063986	0.74510	D	0.28669547683361	0.24451	T	0.907809	0.67374	D	0.8978088	0.91188	0.89369696	0.94529	0.8978088	0.91189	0.89369696	0.94529	-10.005	0.73942	D	0.6717298407254222	0.74679	0.346	0.56337	A	.	.	3.854694	0.55867	23.7	0.99666913795704126	0.78330	0.96807	0.71045	D	AEFDGCI	0.913125	0.87469	D	1.03530043822916	0.96730	15.06755	0.936292751152072	0.96969	15.39783	0.999999999999998	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.34	5.34	0.75982	7.903000	0.86133	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.462	0.94913	754	0.51307	Dynein heavy chain, domain-2	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	624.83	33	chr5	13859595	.	G	T	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.839;DP=230;ExcessHet=0;FS=7.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.186;SOR=1.96	GT:AD:DP:GQ:PL	0/1:35,21:56:99:635,0,979	5	0	1	0
chr5	21752146	21752146	T	A	exonic	CDH12	.	nonsynonymous SNV	CDH12:NM_001364109:exon10:c.A1304T:p.H435L,CDH12:NM_001317227:exon12:c.A1976T:p.H659L,CDH12:NM_001317228:exon12:c.A1856T:p.H619L,CDH12:NM_001364107:exon13:c.A1976T:p.H659L,CDH12:NM_001364108:exon13:c.A1976T:p.H659L,CDH12:NM_001364104:exon14:c.A1976T:p.H659L,CDH12:NM_001364106:exon15:c.A1976T:p.H659L,CDH12:NM_004061:exon15:c.A1976T:p.H659L,CDH12:NM_001364105:exon16:c.A1976T:p.H659L	.	423	1098	1	0	0	1	0.000455166	.	.	.	2340505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.603	0.120992982541	0.0002	.	0.0002	0	8.675e-05	0	0	0.0002	0	0.0009	0.0002005	31	154602	rs143993546	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0008	2.988e-05	0.0001	0.0002	0	0	0.0002	0.0001	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0012	7.092e-05	5.749e-05	0.0005	0.0004	2.413e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0012	0.144	0.25255	T	0.413	0.14412	T	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-1.0	0.76037	T	-2.84	0.59873	D	0.766	0.76853	-0.0601	0.80991	T	0.500	0.81091	T	10	0.45164293	0.58735	T	0.120993	0.80166	D	0.603	0.84345	.	.	0.887749475733	0.88664	0.8109729007249156	0.81052	0.39660407487	0.40771	0.888002634048	0.95010	D	0.028566	0.20663	T	0.0136242	0.53518	T	0.196353	0.82928	D	0.0866120438186073	0.10811	T	0.910509	0.70110	D	0.37565973	0.59000	0.28814846	0.54830	0.37565973	0.59001	0.28814846	0.54829	-7.001	0.54449	T	.	.	0.317	0.63390	B	.;.;.	.;.;.	4.405954	0.68124	25.2	0.97590327698685986	0.34786	0.95584	0.65306	D	AEFBI	0.761875	0.69946	D	0.299898552324778	0.56145	3.77873	0.361157751802012	0.59182	4.094013	0.999999585343346	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.248000	0.51131	4.256000	0.42782	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	15.196	0.72774	854	0.34840	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1019.83	37	chr5	21752146	.	T	A	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.52;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.91;SOR=0.788	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1030,0,1188	5	0	1	0
chr5	21802392	21802392	T	A	exonic	CDH12	.	nonsynonymous SNV	CDH12:NM_001364109:exon5:c.A359T:p.Y120F,CDH12:NM_001317227:exon7:c.A1031T:p.Y344F,CDH12:NM_001317228:exon7:c.A911T:p.Y304F,CDH12:NM_001364107:exon8:c.A1031T:p.Y344F,CDH12:NM_001364108:exon8:c.A1031T:p.Y344F,CDH12:NM_001364104:exon9:c.A1031T:p.Y344F,CDH12:NM_001364106:exon10:c.A1031T:p.Y344F,CDH12:NM_004061:exon10:c.A1031T:p.Y344F,CDH12:NM_001364105:exon11:c.A1031T:p.Y344F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0404131964854	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777806564	7.526e-06	7.525e-06	6.808e-06	8.252e-06	0.0001	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.165	0.31125	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.59	0.40313	L	-0.34	0.68474	T	-3.34	0.66325	D	0.684	0.70966	-0.2241	0.77042	T	0.413	0.76109	T	10	0.90991807	0.90356	D	0.040413	0.59364	D	0.527	0.80007	0.861	0.95829	0.784457406344	0.78246	0.4728102629901273	0.47200	0.337204829591	0.35714	0.733317315578	0.71991	T	0.188818	0.54284	T	-0.093356	0.37521	T	-0.169222	0.57514	T	0.498588085174561	0.32578	T	0.975036	0.91141	D	0.5977706	0.72571	0.30149227	0.56181	0.5977706	0.72572	0.30149227	0.56180	-5.971	0.46036	T	.	.	0.088	0.14431	B	.;.;.	.;.;.	4.533866	0.71201	25.6	0.98239834273259807	0.39467	0.99678	0.98592	D	AEFGI	0.922209	0.89685	D	0.497977753079478	0.66970	5.019841	0.544445282409279	0.71010	5.590439	0.999999967552444	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	7.561000	0.81256	7.785000	0.68758	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	16.096	0.80931	872	0.31118	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	752.83	40	chr5	21802392	.	T	A	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.525;DP=231;ExcessHet=0;FS=2.841;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.939;SOR=0.312	GT:AD:DP:GQ:PL	0/1:22,31:53:99:763,0,624	5	0	1	0
chr5	23527360	23527360	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2272A:p.R758S,PRDM9:NM_001376900:exon11:c.C2272A:p.R758S,PRDM9:NM_020227:exon11:c.C2272A:p.R758S	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0157748	7.574e-05	0.0009	0	0	0	0	0	6.089e-05	0.0009573	148	154602	rs112501567	0.0007	0.0021	0.0006	0.0008	0.0035	0.0006	0.0006	0.0029	0.0026	0.0035	0.0014	0.0022	0.0014	0.0004	0.0028	0.0004	0.0013	0.0018	0.0014	0.0020	0.0014	0.0013	0.0026	0.0011	0.0010	0.0010	0.0009	0.0018	0	0.0016	0	0	0.0011	0	0.0014	0	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.15	0.00907	N	1.3	0.35590	T	1.49	0.00747	N	0.044	0.01658	-1.0171	0.24657	T	0.001	0.00438	T	8	0.0039440393	0.00076	T	.	.	.	0.031	0.07369	.	.	0.0611884634855	0.05136	0.03481781596185732	0.03428	0.139674272888	0.15743	0.465482741594	0.34061	T	0.019719	0.15658	T	-0.709207	0.00032	T	-0.765043	0.02935	T	0.00023669731066395	0.00001	T	0.0772923	0.00570	T	0.47630665	0.65676	0.09665705	0.22975	0.47630665	0.65676	0.09665705	0.22975	-0.271	0.00460	T	.	.	0.281	0.51367	B	.	.	0.532115	0.09008	5.790	0.55493317965200339	0.05354	0.00050	0.00389	N	AEFDGBIJ	0.017414	0.00455	N	-1.36982181412534	0.02925	0.1298806	-1.37235076037868	0.03549	0.1657935	0.307357789252236	0.19251	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.65	2.65	0.30588	0.907000	0.28154	-2.751000	0.03399	-0.767000	0.03477	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.534:0.2366:0.0:0.2294	3.486	0.07182	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.016437	0.015306	0.013587	0.020492	0.050000	0.025862	0.024540	0.003817	0.08333	1412.83	91	chr5	23527360	.	C	A	1412.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.957;DP=645;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=50.68;MQRankSum=-0.326;QD=11.21;ReadPosRankSum=0.132;SOR=0.719	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1423,0,1301	5	0	1	0
chr5	35876422	35876422	C	G	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1316G:p.T439S	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	721440	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00974582969322	0.0002	0.000199681	0.0004	0.0002	0.0005	0	0	0.0005	0.0011	0.0005	0.0003881	60	154602	rs148931962	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0032	2.987e-05	0.0005	0	0	0	0.0052	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0.0102	0.0004	0.0009	0.0004	0.41	0.10148	T	0.663	0.06448	T	0.024	0.19075	B	0.005	0.11217	B	0.840524	0.09037	N	0.933160	1	0.30258	N	1.095	0.27400	L	1.83	0.24841	T	-0.25	0.11008	N	0.05	0.02179	-0.9711	0.36967	T	0.103	0.37969	T	10	0.025248855	0.00725	T	0.009746	0.25449	T	0.113	0.31778	0.59	0.71874	0.491317756052	0.48765	0.33545629895792106	0.33458	0.0165124899938	0.01591	0.342507779598	0.16813	T	0.145413	0.48253	T	-0.446732	0.01180	T	-0.538927	0.18402	T	0.0183760260577019	0.00555	T	0.437256	0.12012	T	0.08174318	0.18799	0.048332345	0.07155	0.07035484	0.15490	0.052422184	0.08632	-2.977	0.09935	T	0.4053687355797069	0.49654	0.094	0.14568	B	.	.	0.845452	0.12176	8.721	0.89456034914060323	0.18812	0.08904	0.14761	N	AEFGBCI	0.061057	0.11646	N	-0.66506239173422	0.17023	0.8724526	-0.673575151583588	0.17623	0.937902	0.999998903750716	0.74766	0.653281	0.48532	0	0.616935	0.53198	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.46	4.57	0.55860	0.426000	0.21081	1.775000	0.28667	0.599000	0.40250	0.049000	0.21372	0.277000	0.24084	0.082000	0.17360	0.0:0.8264:0.1736:0.0	12.068	0.52899	645	0.63593	.	.	.	.	.	.	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	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1091.83	36	chr5	35876422	.	C	G	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.719;DP=266;ExcessHet=0;FS=3.081;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.044;SOR=0.371	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1102,0,1099	5	0	1	0
chr5	39308321	39308321	A	T	exonic	C9	.	stopgain	C9:NM_001737:exon8:c.T1149A:p.Y383X	C9 deficiency	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.128e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs552350601	8.277e-06	8.211e-06	5.497e-06	1.108e-05	0.0002	4.41e-06	3.49e-06	5.411e-05	4.053e-05	0	0	0	0	0	0.0002	0	3.337e-05	0.0001	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.509416	0.11861	N	0.796012	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.745	0.74462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172807	0.71381	D	0.284749	0.87377	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.941552	0.94132	33	0.9899920751374075	0.50106	0.66759	0.33190	D	AEFI	0.028625	0.02556	N	0.268390900741182	0.54553	3.620675	0.000221777772007825	0.39728	2.359919	0.993126789615628	0.33094	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.3	0.50540	3.407000	0.52394	1.486000	0.26855	-0.093000	0.16093	0.562000	0.27441	0.000000	0.08366	0.094000	0.17991	0.9137:0.0:0.0863:0.0	8.843	0.34312	739	0.53257	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	923.83	34	chr5	39308321	.	A	T	923.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=252;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.457;SOR=0.506	GT:AD:DP:GQ:PL	0/1:35,40:75:99:934,0,904	5	0	1	0
chr5	43174892	43174892	A	G	exonic	ZNF131	.	nonsynonymous SNV	ZNF131:NM_001330705:exon6:c.A794G:p.H265R,ZNF131:NM_001330710:exon6:c.A794G:p.H265R,ZNF131:NM_001297548:exon7:c.A1631G:p.H544R,ZNF131:NM_001330707:exon7:c.A1631G:p.H544R,ZNF131:NM_001330708:exon7:c.A1631G:p.H544R,ZNF131:NM_001330709:exon7:c.A794G:p.H265R,ZNF131:NM_001330712:exon7:c.A1631G:p.H544R,ZNF131:NM_001330714:exon7:c.A1631G:p.H544R,ZNF131:NM_001330704:exon8:c.A794G:p.H265R,ZNF131:NM_001330706:exon8:c.A1529G:p.H510R,ZNF131:NM_001330711:exon8:c.A1529G:p.H510R,ZNF131:NM_001330713:exon8:c.A1529G:p.H510R,ZNF131:NM_001330715:exon8:c.A1529G:p.H510R,ZNF131:NM_001330716:exon8:c.A1442G:p.H481R,ZNF131:NM_001330717:exon8:c.A1292G:p.H431R,ZNF131:NM_003432:exon8:c.A1529G:p.H510R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0024	0.000798722	0.0035	0.0006	0	0	0.0185	0.0040	0.0067	0.0012	0.003467	536	154602	rs192740954	0.0043	0.0043	0.0044	0.0042	0.0046	0.0042	0.0042	0.0045	0.0044	0.0003	0.0003	0.0001	0	0.0176	0.0003	0.0046	0.0028	0.0008	0.0034	0.0034	0.0029	0.0038	0.0040	0.0031	0.0030	0.0036	0.0034	0.0008	0	0.0005	0	0	0.0184	0	0.0040	0.0033	0	0.015	0.52492	D	0.008	0.67890	D	0.596	0.39217	P	0.328	0.42011	B	0.000002	0.62929	D	0.057830	0.986287	0.81001	D	1.04	0.26193	L	-0.8	0.73845	T	-0.56	0.27669	N	0.187	0.20395	-0.5487	0.66836	T	0.229	0.59447	T	10	0.008504897	0.00193	T	.	.	.	0.294	0.61388	.	.	0.668288140291	0.66548	0.34984333933484196	0.34898	0.52376291053	0.50081	0.715525150299	0.69395	T	0.027493	0.20123	T	-0.30669	0.08043	T	-0.211811	0.53522	T	0.0168935101104606	0.00441	T	0.783822	0.42110	T	0.12560485	0.29439	0.20228784	0.44250	0.12560485	0.29439	0.20228784	0.44249	-4.123	0.25892	T	.	.	0.108	0.36335	B	.;.;.;.	.;.;.;.	3.542467	0.49755	22.8	0.99631863735025494	0.76081	0.99126	0.91608	D	AEFGBI	0.665555	0.63433	D	0.20869411029715	0.51618	3.341802	0.343715211933586	0.58131	3.981824	0.999999970549395	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.932000	0.63178	9.190000	0.79125	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.751	0.77753	475	0.77788	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	991.83	42	chr5	43174892	.	A	G	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.838;DP=279;ExcessHet=0;FS=1.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.363;SOR=0.878	GT:AD:DP:GQ:PL	0/1:54,40:94:99:1002,0,1568	5	0	1	0
chr5	57482088	57482088	C	T	exonic	ACTBL2	.	nonsynonymous SNV	ACTBL2:NM_001017992:exon1:c.G620A:p.R207Q	.	44	1461	16	1	0	18	0.00612245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.106796901498	0.0019	0.00199681	0.0018	0.0007	0.0013	0	0.0015	0.0023	0.0033	0.0021	0.001824	282	154602	rs146468598	0.0032	0.0032	0.0031	0.0032	0.0075	0.0031	0.0031	0.0057	0.0051	0.0009	0.0010	0.0045	2.519e-05	0.0018	0.0075	0.0035	0.0040	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0004	0.0011	0.0010	0.0055	0	0.0010	0	0.0031	0.0019	0.0025	.	.	.	0.084	0.41239	T	0.461	0.36363	P	0.182	0.35926	B	0.000010	0.62929	D	0.000000	0.999197	0.46300	D	2.57	0.75187	M	-3.44	0.94428	D	-2.61	0.56144	D	0.774	0.77132	0.773	0.94084	D	0.806	0.93436	D	10	0.055581927	0.06097	T	0.106797	0.78257	D	0.836	0.94840	.	.	0.747451845535	0.74517	0.28090319973566225	0.28003	0.220639000335	0.24609	0.737995624542	0.72677	T	0.553979	0.84948	D	0.0171969	0.54004	T	0.248875	0.85569	D	0.0449145518903926	0.04586	T	0.959604	0.84807	D	0.7950199	0.83589	0.6102615	0.77329	0.7950199	0.83591	0.6102615	0.77330	-10.825	0.78689	D	.	.	0.224	0.45556	B	.	.	5.162625	0.86510	28.9	0.99195892694610466	0.55112	0.97433	0.74719	D	AEFGBI	.	.	.	0.543825191585582	0.69708	5.395345	0.577221676404053	0.73311	5.94959	0.999999999998623	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.91	4.91	0.63897	7.899000	0.85994	2.719000	0.34297	0.599000	0.40250	1.000000	0.71638	0.034000	0.21380	0.967000	0.53440	0.0:1.0:0.0:0.0	15.631	0.76657	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1323.83	35	chr5	57482088	.	C	T	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=296;ExcessHet=0;FS=15.497;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.504;SOR=1.945	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1334,0,1685	5	0	1	0
chr5	60904854	60904854	A	C	exonic	ERCC8	.	nonsynonymous SNV	ERCC8:NM_000082:exon5:c.T419G:p.F140C,ERCC8:NM_001007234:exon5:c.T419G:p.F140C,ERCC8:NM_001007233:exon6:c.T245G:p.F82C	Cockayne syndrome, type A, Autosomal recessive;UV-sensitive syndrome 2, Autosomal recessive	10	1508	4	0	0	4	0.0013245	.	.	.	894591	Cockayne_syndrome_type_1	MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.763	0.0985938140006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs373783755	2.329e-05	2.259e-05	2.397e-05	2.261e-05	0.0005	1.661e-05	1.461e-05	0.0001	7.649e-05	0	0	0	0	0	0.0005	2.147e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.041	0.50514	D	0.999	0.77913	D	0.883	0.62698	P	0.000001	0.84330	D	0.097044	1	0.81001	D	2.555	0.74557	M	-1.47	0.81067	T	-3.05	0.71276	D	0.864	0.86085	0.234	0.86482	D	0.619	0.86580	D	10	0.82368124	0.81558	D	0.098594	0.76968	D	0.763	0.91962	0.598	0.72862	0.941272155106	0.94066	0.5620659559288889	0.56133	0.383352055737	0.39662	0.643458843231	0.59056	T	0.376679	0.74002	T	0.311187	0.83833	D	0.316879	0.88960	D	0.918565571308136	0.57688	D	0.918208	0.71352	D	0.56503034	0.70787	0.30576244	0.56602	0.56503034	0.70788	0.30576244	0.56601	-9.842	0.72960	D	.	.	0.721	0.75630	P	.;.	.;.	5.128837	0.85820	28.7	0.99192666458894341	0.55024	0.99650	0.98341	D	AEI	0.898767	0.84241	D	0.752756090809216	0.83083	7.925642	0.757429600903741	0.86709	8.977548	0.999832674669067	0.43792	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	7.725000	0.83768	11.030000	0.85052	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.743	0.69089	838	0.37812	WD40-repeat-containing domain;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	251.83	20	chr5	60904854	.	A	C	251.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.788;DP=164;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.09;SOR=0.56	GT:AD:DP:GQ:PL	0/1:8,13:21:99:262,0,168	5	0	1	0
chr5	66917015	66917015	A	G	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_015183:exon3:c.A104G:p.K35R,MAST4:NM_198828:exon5:c.A707G:p.K236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0393878540967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967963563	2.474e-05	2.227e-05	1.919e-05	2.948e-05	0.0002	1.435e-05	1.122e-05	2.29e-05	1.234e-05	0	8.641e-05	0	0	0	0.0002	2.525e-05	6.52e-05	0	1.971e-05	1.969e-05	1.285e-05	2.687e-05	0.0002	5.24e-06	2.45e-06	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.672	0.12246	T	0.996	0.68779	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	1.49	0.63738	T	-0.46	0.50337	N	0.394	0.43514	-0.9097	0.46891	T	0.167	0.50567	T	9	0.1498991	0.28928	T	0.039388	0.58779	D	0.135	0.36572	0.333	0.32005	0.595101170395	0.59188	.	.	.	.	.	.	.	0.050346	0.28569	T	-0.157841	0.27092	T	-0.270855	0.47734	T	0.243044525384903	0.22558	T	0.432757	0.25296	T	.	.	.	.	.	.	.	.	-2.587	0.10300	T	.	.	0.118	0.46825	B	.;.;.;.;.	.;.;.;.;.	2.873399	0.38005	20.6	0.51594811915073657	0.04591	0.83194	0.42332	D	AEFI	0.372380	0.45805	N	-0.151723472898742	0.35162	2.016147	-0.001376423090309	0.39653	2.354438	0.316561488195486	0.19341	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.22	4.22	0.49153	3.533000	0.53317	10.224000	0.83249	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	9.989	0.41032	861	0.33516	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	706.83	33	chr5	66917015	.	A	G	706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=239;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.008;SOR=0.856	GT:AD:DP:GQ:PL	0/1:29,29:58:99:717,0,720	5	0	1	0
chr5	73885876	73885876	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon17:c.C2143T:p.R715C,ARHGEF28:NM_001080479:exon25:c.C3082T:p.R1028C,ARHGEF28:NM_001177693:exon25:c.C3082T:p.R1028C	.	438	1082	2	0	0	2	0.000923361	.	.	.	3210257	ARHGEF28-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0194158631385	0.0006	0.000399361	0.0004	0	8.875e-05	0.0002	0	0.0004	0.0034	0.0007	0.0003816	59	154602	rs201386583	0.0006	0.0006	0.0006	0.0006	0.0087	0.0006	0.0006	0.0067	0.0060	6e-05	0.0002	7.663e-05	0.0001	0	0.0087	0.0007	0.0008	0.0003	0.0005	0.0005	0.0005	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0001	0.0033	0.0004	0	0	0	0.0204	0.0007	0	0.0002	1.0	0.00964	T	0.777	0.21545	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	0.676167	0.33189	D	-0.345	0.03330	N	-0.05	0.63403	T	3.24	0.00111	N	0.279	0.33030	-0.9824	0.34445	T	0.086	0.33522	T	9	0.013210118	0.00281	T	0.019416	0.41777	T	0.079	0.23065	.	.	0.212008924253	0.20833	0.1306337542982497	0.12988	0.0942058110094	0.10638	0.409478843212	0.26384	T	0.008068	0.07427	T	-0.437353	0.01340	T	-0.499562	0.22394	T	0.0326819877655445	0.02419	T	0.0633937	0.00855	T	0.042871688	0.06580	0.058115724	0.10685	0.042871688	0.06580	0.058115724	0.10684	0.632	0.00209	T	.	.	0.052	0.00341	B	.;.;.;.;.;.	.;.;.;.;.;.	2.511432	0.32436	19.04	0.080976575327245129	0.00057	0.13149	0.17691	N	AEFBI	0.072283	0.14419	N	-0.762856687257516	0.14286	0.7104234	-0.522480996234574	0.21543	1.165934	0.83339454330034	0.24733	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.74	4.59	0.56297	1.471000	0.34973	2.388000	0.32524	-0.690000	0.04136	0.937000	0.32526	0.999000	0.35428	0.912000	0.44740	0.0:0.1381:0.0:0.8619	9.796	0.39901	831	0.39019	.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	0.008081	0.010204	0.004076	0.035088	0.000000	0.008621	0.000000	0.000000	0.08333	876.83	35	chr5	73885876	.	C	T	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.453;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.451;SOR=0.881	GT:AD:DP:GQ:PL	0/1:31,31:62:99:887,0,854	5	0	1	0
chr5	80437800	80437800	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C1115T:p.P372L,ZFYVE16:NM_014733:exon3:c.C1115T:p.P372L,ZFYVE16:NM_001105251:exon4:c.C1115T:p.P372L,ZFYVE16:NM_001284236:exon4:c.C1115T:p.P372L,ZFYVE16:NM_001349434:exon4:c.C1115T:p.P372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0102667721194	.	0.000199681	1.651e-05	9.653e-05	0	0	0	0	0	6.076e-05	1.94e-05	3	154602	rs552749201	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	2.995e-05	2.038e-05	8.962e-05	2.236e-05	0	2.519e-05	0	0.0002	8.993e-07	1.656e-05	6.957e-05	1.314e-05	1.312e-05	2.57e-05	0	4.816e-05	2.18e-06	8.2e-07	7.98e-06	2.99e-06	4.816e-05	0	0	0	0	0	0	0	0	0	0.301	0.14449	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.158441	0.03019	N	1.724340	1	0.08975	N	0.345	0.11182	N	1.24	0.36691	T	-1.85	0.43334	N	0.07	0.07262	-1.0340	0.19173	T	0.058	0.24354	T	10	0.02803284	0.00940	T	0.010267	0.26610	T	0.023	0.04649	0.152	0.05544	0.372087925617	0.36815	0.04951685289557896	0.04894	0.0460240649489	0.04998	0.214086413383	0.00997	T	0.005607	0.05061	T	-0.449107	0.01143	T	-0.679288	0.07027	T	0.014422748014418	0.00291	T	0.448055	0.12582	T	0.025969911	0.01596	0.024362959	0.00454	0.025969911	0.01595	0.024362959	0.00454	-2.922	0.09365	T	0.20550888505764425	0.27418	0.070	0.04198	B	.;.;.	.;.;.	0.764462	0.11341	7.961	0.34596013982793317	0.02125	0.10568	0.16038	N	AEFGBI	0.067271	0.13216	N	-1.16591215548909	0.05523	0.2520091	-1.14776516057411	0.06808	0.3289739	0.0838868320673337	0.15940	0.719381	0.83141	0	0.546412	0.12157	0	0.608884	0.39905	0	0.733575	0.97253	0	.	.	5.1	1.67	0.23149	1.158000	0.31347	2.109000	0.30648	-0.059000	0.16651	0.001000	0.13787	0.001000	0.17328	0.011000	0.09372	0.4981:0.4149:0.087:0.0	7.072	0.24360	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1297.83	33	chr5	80437800	.	C	T	1297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.91;DP=368;ExcessHet=0;FS=3.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.03;SOR=0.69	GT:AD:DP:GQ:PL	0/1:66,45:111:99:1308,0,1738	5	0	1	0
chr5	80654905	80654905	G	C	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.G178C:p.A60P	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	516	765	147	13	81	254	0.101585	.	.	.	623004	not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|Constitutional_megaloblastic_anemia_with_severe_neurologic_disease	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	Cavernous_sinus_meningioma	MONDO:MONDO:0002996,MedGen:C1332865	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	0.220	.	.	0.0207668	0.0123	0.0041	0.0068	0.0047	0.0046	0.0162	0.0290	0.0093	0.0086674	1340	154602	rs2001675	0.0093	0.0093	0.0093	0.0092	0.0146	0.0091	0.0091	0.0121	0.0111	0.0032	0.0045	0.0159	0.0065	0.0048	0.0146	0.0099	0.0086	0.0069	0.0095	0.0091	0.0103	0.0088	0.0139	0.0090	0.0088	0.0131	0.0127	0.0050	0	0.0039	0.0192	0.0021	0.0050	0.0165	0.0139	0.0160	0.0085	1.0	0.00964	T	0.308	0.19845	T	0.131	0.27154	B	0.07	0.27859	B	.	.	.	.	3.9078e-08	0.58761	P	0	0.06538	N	-2.23	0.87116	D	0.72	0.02099	N	0.246	0.27792	-1.1240	0.02093	T	0.000	0.00075	T	7	0.0024684668	0.00037	T	.	.	.	0.220	0.51569	.	.	.	.	0.22548222237945684	0.22463	0.0300485160316	0.03099	0.584103405476	0.50664	T	0.076215	0.35366	T	-0.357316	0.04284	T	-0.271756	0.47641	T	0.00287325160120042	0.00030	T	0.214779	0.02659	T	0.07356919	0.16447	0.17325433	0.39639	0.07559062	0.17040	0.17325433	0.39638	-5.993	0.46221	T	.	.	0.081	0.08465	B	.	.	1.027988	0.14078	10.65	0.7648625718472859	0.11487	0.08520	0.14438	N	AEFGBHCIJ	0.100693	0.20241	N	-1.1288704806175	0.06134	0.2815814	-1.15061482071042	0.06757	0.3263275	0.999999999949268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.67	-0.189	0.12608	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.003000	0.16062	0.349000	0.24462	0.046000	0.14843	0.0:0.0:0.6183:0.3817	8.804	0.34086	883	0.28872	.	.	.	.	.	.	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	0.090522	0.147727	0.077348	0.080420	0.150000	0.045455	0.075472	0.073077	0.08333	421.05	33	chr5	80654905	.	G	C	421.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.929;DP=215;ExcessHet=0.4139;FS=4.011;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.534;SOR=0.529	GT:AD:DP:GQ:PL	0/1:32,7:39:99:107,0,1272	5	0	1	0
chr5	122818919	122818919	G	A	exonic	SNX2	.	nonsynonymous SNV	SNX2:NM_001278199:exon11:c.G757A:p.V253I,SNX2:NM_003100:exon11:c.G1108A:p.V370I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0312249071417	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375160918	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	3.597e-06	0	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.048	0.40068	D	0.178	0.29639	T	0.645	0.40526	P	0.643	0.52216	P	0.000001	0.62929	D	0.056210	1	0.81001	D	1.765	0.45800	L	1.26	0.36330	T	-0.7	0.20145	N	0.547	0.57860	-0.8532	0.51746	T	0.182	0.53011	T	10	0.47190896	0.59913	T	0.031225	0.53360	D	0.265	0.57870	.	.	0.446476282341	0.44268	0.24500452282084878	0.24414	0.476211014082	0.46760	0.765872359276	0.76806	T	0.170082	0.51770	T	-0.102058	0.36082	T	-0.287522	0.46029	T	0.654758421982265	0.38667	D	0.973103	0.90315	D	0.15179546	0.34490	0.18057777	0.40866	0.15179546	0.34490	0.18057777	0.40865	-8.435	0.63997	D	.	.	0.359	0.57174	A	.;.	.;.	4.279383	0.65178	24.8	0.9985373456241361	0.93279	0.99200	0.92708	D	AEFBI	0.896207	0.83704	D	0.692541340416775	0.79144	7.016001	0.755742460802549	0.86584	8.936746	0.999999999955056	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	10.003000	0.99689	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.825	0.96608	587	0.69154	Sorting nexin Vps5-like, C-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	.	.	.	.	.	.	.	.	0.08333	511.83	36	chr5	122818919	.	G	A	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.974;DP=232;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.553;SOR=0.617	GT:AD:DP:GQ:PL	0/1:29,26:55:99:522,0,700	5	0	1	0
chr5	126552104	126552104	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001202404:exon12:c.A1042G:p.T348A,ALDH7A1:NM_001182:exon14:c.A1234G:p.T412A,ALDH7A1:NM_001201377:exon14:c.A1150G:p.T384A	Epilepsy, pyridoxine-dependent, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	YES	133794	not_specified|Inborn_genetic_diseases|Pyridoxine-dependent_epilepsy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.589	.	0.0004	0.0163738	0.0067	0.0004	0.0004	0.0832	0.0006	0.0009	0.0033	0.0013	0.0062354	964	154602	rs2306618	0.0023	0.0024	0.0024	0.0023	0.0645	0.0023	0.0023	0.0624	0.0616	0.0002	0.0002	0.0118	0.0645	0.0002	0	0.0001	0.0045	0.0013	0.0033	0.0033	0.0029	0.0037	0.0773	0.0031	0.0030	0.0711	0.0686	0.0006	0	0.0002	0.0118	0.0773	0	0	0.0002	0.0009	0.0050	0.59	0.05808	T	0.897	0.06090	T	0.281	0.32101	B	0.184	0.35999	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	-1.54	0.81640	D	-4.86	0.81187	D	0.481	0.54409	-0.6508	0.62679	T	0.085	0.33043	T	10	0.005655259	0.00125	T	.	.	.	0.589	0.83582	.	.	0.865300290144	0.86399	0.8630171240334765	0.86265	0.272181185656	0.29729	0.454950153828	0.32620	T	0.160176	0.93346	T	-0.254188	0.13589	T	-0.0778877	0.65058	T	0.102172486695747	0.12595	T	0.893511	0.70203	D	0.70715445	0.78451	0.45207185	0.68124	0.8147498	0.84869	0.4790709	0.69827	-8.342	0.63377	D	.	.	0.098	0.45726	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.186929	0.43288	21.7	0.76749523439415024	0.11594	0.97400	0.74509	D	AEFBI	0.745787	0.68836	D	-0.00244245080552062	0.41744	2.502501	0.058254955904975	0.42473	2.569531	0.881485250916648	0.25632	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	5.051000	0.64074	6.173000	0.54519	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.226000	0.22626	0.0:0.081:0.0:0.919	9.924	0.40647	700	0.57880	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	555.83	41	chr5	126552104	.	T	C	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.481;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.101;SOR=0.638	GT:AD:DP:GQ:PL	0/1:14,21:35:99:566,0,367	5	0	1	0
chr5	130184400	130184400	C	T	exonic	CHSY3	.	nonsynonymous SNV	CHSY3:NM_175856:exon3:c.C1258T:p.R420C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0284427701124	0.0002	.	2.479e-05	0.0002	0	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs367575486	1.163e-05	1.163e-05	1.362e-05	9.629e-06	0.0001	7.09e-06	5.79e-06	3.984e-05	2.374e-05	0.0001	2.237e-05	0	0	0	0	8.997e-06	0	2.319e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	7.242e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.959	0.70163	D	0.000020	0.62929	D	0.000000	1	0.81001	D	2.695	0.78878	M	2.3	0.16953	T	-4.95	0.81910	D	0.774	0.77132	-0.9836	0.34164	T	0.125	0.43028	T	9	0.76117265	0.76357	D	0.028443	0.51122	D	0.321	0.64318	.	.	0.685252170855	0.68256	0.70672212115354	0.70614	0.562084491644	0.52702	0.734488487244	0.72163	T	0.217728	0.58025	T	-0.0195201	0.48922	T	0.0401609	0.72938	D	0.969836413860321	0.68732	D	0.987968	0.95938	D	0.62483364	0.74022	0.54765695	0.73850	0.62483364	0.74023	0.54765695	0.73850	-12.753	0.88320	D	.	.	0.188	0.40570	B	.	.	5.253267	0.88202	29.5	0.9992393437618613	0.98917	0.94083	0.60061	D	AEFBI	0.720159	0.67081	D	0.660330278204748	0.77039	6.598564	0.607537432621474	0.75486	6.319086	0.592473358051395	0.21658	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.5	4.5	0.54382	3.913000	0.56106	5.961000	0.51824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.512	0.90870	506	0.75555	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1069.83	34	chr5	130184400	.	C	T	1069.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=250;ExcessHet=0;FS=1.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.11;SOR=0.954	GT:AD:DP:GQ:PL	0/1:40,38:78:99:1080,0,981	5	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	9	1496	15	2	0	19	0.0063102	.	.	YES	133469	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified|Nijmegen_breakage_syndrome-like_disorder|not_provided	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	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	0.006552	0.005102	0.001359	0.023392	0.000000	0.008621	0.003049	0.000000	0.08333	422.83	34	chr5	132575843	.	A	C	422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.122;SOR=0.538	GT:AD:DP:GQ:PL	0/1:12,15:27:99:433,0,274	5	0	1	0
chr5	133980948	133980948	T	C	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon6:c.A332G:p.N111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00258831308093	.	.	8.27e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs766920098	1.371e-06	1.369e-06	2.729e-06	0	2.992e-05	2.3e-07	9e-08	.	.	2.992e-05	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.135513	0.99997	0.53665	D	-0.615	0.02190	N	1.1	0.39050	T	1.62	0.00637	N	0.087	0.06454	-1.0458	0.15592	T	0.042	0.17994	T	10	0.06088668	0.07549	T	0.002588	0.05235	T	0.074	0.21613	0.304	0.27325	0.0675242888579	0.06100	0.08056874537585877	0.07991	0.482273238325	0.47187	0.614805519581	0.54995	T	0.125378	0.45105	T	-0.423232	0.01632	T	-0.676591	0.07193	T	0.0467978306114674	0.04929	T	0.874313	0.58483	D	0.0836645	0.19330	0.046968322	0.06662	0.0836645	0.19329	0.046968322	0.06661	-4.476	0.30573	T	.	.	0.060	0.01075	B	.;.;.;.	.;.;.;.	2.386554	0.30640	18.50	0.33812217019766699	0.02034	0.85919	0.45109	D	AEFBI	0.322581	0.42503	N	-0.399755358985018	0.25478	1.383351	-0.141197528238839	0.33748	1.933792	0.999999881982768	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	3.007000	0.49223	5.014000	0.46692	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.1196:0.0:0.8804	8.256	0.30917	182	0.92924	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	840.83	34	chr5	133980948	.	T	C	840.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.494;DP=229;ExcessHet=0;FS=2.635;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=0.7;SOR=1.148	GT:AD:DP:GQ:PL	0/1:16,32:48:99:851,0,403	5	0	1	0
chr5	135008069	135008069	C	T	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon4:c.C605T:p.P202L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0288933265844	7.7e-05	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs143295660	5.473e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.799e-06	0	5.797e-05	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.241	0.17643	T	0.047	0.48855	D	0.001	0.07471	B	0.005	0.11217	B	0.040991	0.01885	N	2.028920	1	0.08975	N	0.375	0.12094	N	-4.86	0.98263	D	-1.12	0.28906	N	0.078	0.05287	0.364	0.88557	D	0.807	0.93464	D	9	0.09122592	0.15962	T	0.028893	0.51501	D	0.301	0.62179	.	.	0.388174495139	0.38433	0.6886089555846406	0.68800	0.102169319623	0.11567	0.27179723978	0.06377	T	0.414128	0.76778	T	-0.0707007	0.41214	T	-0.242479	0.50558	T	0.0412327498197556	0.03914	T	0.550545	0.18982	T	0.048110034	0.08333	0.039929517	0.04200	0.048110034	0.08333	0.039929517	0.04200	-1.884	0.02772	T	.	.	0.104	0.18910	B	.	.	0.650490	0.10190	6.930	0.52301427946590417	0.04722	0.03446	0.08587	N	AEFI	0.063221	0.12204	N	-1.24639644257113	0.04347	0.1960334	-1.25540858406923	0.05051	0.2397827	9.28295493737625E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.33	0.13	0.14046	0.393000	0.20543	.	.	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.3057:0.5368:0.0:0.1575	4.709	0.12245	791	0.46100	Ion transport domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2050.83	142	chr5	135008069	.	C	T	2050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.348;DP=630;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.138;SOR=0.68	GT:AD:DP:GQ:PL	0/1:103,81:184:99:2061,0,2726	5	0	1	0
chr5	138391908	138391908	A	G	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.A2276G:p.N759S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00774545142773	.	0.000399361	0.0002	0	0	0.0017	0	1.51e-05	0	0.0002	0.0001423	22	154602	rs201353286	0.0001	0.0001	0.0001	0.0001	0.0026	8.783e-05	8.27e-05	0.0022	0.0020	5.976e-05	2.237e-05	0	0.0026	0	0	2.429e-05	8.283e-05	0.0001	9.195e-05	9.188e-05	7.711e-05	0.0001	0.0021	5.525e-05	4.363e-05	0.0012	0.0009	2.407e-05	0	0	0	0.0021	9.423e-05	0	1.47e-05	0	0	0.18	0.21968	T	0.664	0.06427	T	0.01	0.15535	B	0.003	0.08700	B	0.000064	0.52346	N	0.168399	0.997334	0.81001	D	0.46	0.12951	N	0.15	0.60734	T	-0.14	0.09135	N	0.288	0.32591	-0.9939	0.31591	T	0.140	0.45941	T	10	0.010304391	0.00230	T	0.007745	0.20536	T	0.049	0.13647	.	.	0.182106788282	0.17826	0.2866840183537042	0.28581	0.456773643813	0.45333	0.62025141716	0.55765	T	0.010276	0.09295	T	-0.467774	0.00878	T	-0.48008	0.24438	T	0.0357194787840299	0.02932	T	0.936606	0.76191	D	0.08739731	0.20350	0.056149933	0.09982	0.08739731	0.20349	0.056149933	0.09981	-3.651	0.18597	T	.	.	0.091	0.13221	B	.	.	3.141368	0.42488	21.5	0.99627751173120083	0.75837	0.96904	0.71575	D	AEFBIJ	0.470067	0.51618	N	-0.373981408703591	0.26399	1.44049	-0.168792494309204	0.32692	1.86247	0.999997373325997	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	4.09	0.47038	2.387000	0.44043	8.038000	0.76302	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9262:0.0:0.0738:0.0	10.956	0.46571	389	0.83303	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1143.83	34	chr5	138391908	.	A	G	1143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.315;DP=258;ExcessHet=0;FS=1.77;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.863;SOR=0.9	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1154,0,1098	5	0	1	0
chr5	141122032	141122032	C	-	exonic	PCDHB4	.	frameshift deletion	PCDHB4:NM_018938:exon1:c.34delC:p.Q12Kfs*7	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	1.368e-06	1.365e-06	0	9.01e-07	0	0	.	.	0	0	0	0	0	0	9.01e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	681.79	40	chr5	141122031	.	GC	G	681.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.434;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.308;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19:54:99:0|1:141122031_GC_G:692,0,1412:141122031	5	0	1	0
chr5	141122035	141122035	G	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G37A:p.V13M	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0362114283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.012	0.54683	D	0.043	0.49942	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	0.805897	0.34574	D	2.275	0.64647	M	0.7	0.51474	T	-2.5	0.54382	D	0.481	0.51583	-0.5031	0.68538	T	0.224	0.58767	T	9	0.47711188	0.60209	T	0.036211	0.56843	D	0.214	0.50650	0.506	0.60078	0.497613835824	0.49397	0.46641732189019125	0.46560	.	.	0.400044679642	0.25074	T	0.032642	0.22574	T	-0.0602253	0.42873	T	-0.324286	0.42103	T	0.969948709011078	0.68771	D	0.624837	0.24114	T	0.1577232	0.35524	0.23236866	0.48396	0.1577232	0.35524	0.23236866	0.48395	-4.784	0.34404	T	.	.	0.225	0.45690	B	.	.	4.420255	0.68456	25.2	0.9985433000830084	0.93368	0.59533	0.30942	D	AEFDBCI	0.366642	0.45439	N	0.599423034114239	0.73140	5.917528	0.572927260183208	0.73006	5.900326	0.999989647746386	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	1.751000	0.37967	.	.	0.590000	0.31872	0.996000	0.39380	1.000000	0.68203	0.889000	0.42754	0.0:0.0:1.0:0.0	16.834	0.85817	514	0.74853	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	713.83	40	chr5	141122035	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.216;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.562;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,20:56:99:0|1:141122031_GC_G:724,0,1444:141122031	5	0	1	0
chr5	141122036	141122036	T	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.T38A:p.V13E	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.111361618208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.662	0.40950	P	0.141	0.33616	B	.	.	.	.	0.587837	0.32430	D	2.825	0.82220	M	0.7	0.51474	T	-4.55	0.78553	D	0.807	0.80278	-0.5369	0.67281	T	0.167	0.50583	T	9	0.90568715	0.89933	D	0.111362	0.78911	D	0.178	0.44724	0.685	0.82271	0.698982913941	0.69638	0.7094724308434486	0.70889	.	.	0.391356229782	0.23860	T	0.131898	0.46166	T	0.0712143	0.60995	D	-0.135482	0.60507	T	0.960061430931091	0.65703	D	0.478252	0.14398	T	0.7024246	0.78189	0.6492682	0.79483	0.7024246	0.78190	0.6492682	0.79484	-6.562	0.50762	T	.	.	0.333	0.55424	B	.	.	3.855515	0.55878	23.7	0.98678150345799553	0.44568	0.87509	0.47071	D	AEFDBCI	0.146772	0.27031	N	0.137770860471301	0.48232	3.038232	0.109134746190382	0.45015	2.772283	0.943022005891732	0.27549	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.66	3.48	0.38946	1.048000	0.29989	.	.	0.580000	0.29708	0.802000	0.29747	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.312:0.688	10.366	0.43206	514	0.74853	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	713.83	40	chr5	141122036	.	T	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.659;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,20:56:99:0|1:141122031_GC_G:724,0,1444:141122031	5	0	1	0
chr5	141202101	141202101	C	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2327T:p.A776V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0035910569437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.506	0.10967	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.53	0.13656	N	2.6	0.13204	T	-0.27	0.11366	N	0.031	0.01068	-0.9554	0.40024	T	0.014	0.05753	T	9	0.065282404	0.08785	T	0.003591	0.08216	T	0.033	0.08068	0.336	0.32491	0.26547132957	0.26150	0.056786485591518124	0.05619	0.226704076737	0.25215	0.228944689035	0.01891	T	0.021159	0.16527	T	-0.350549	0.04693	T	-0.741316	0.03835	T	0.0196874444336411	0.00671	T	0.19978	0.02250	T	0.020979611	0.00678	0.032835342	0.02081	0.020979611	0.00678	0.032835342	0.02081	-4.054	0.25201	T	.	.	0.082	0.08948	B	.;.	.;.	-0.196798	0.03105	0.493	0.17743985735225701	0.00530	0.00615	0.02724	N	AEFDI	0.027984	0.02383	N	-1.14031289166643	0.05941	0.2721971	-1.15261695493409	0.06720	0.3244589	0.027062329292893	0.13751	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.29	2.29	0.27658	-2.240000	0.01280	.	.	0.316000	0.19262	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6813:0.0:0.3187	4.287	0.10304	664	0.61548	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1478.83	92	chr5	141202101	.	C	T	1478.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.71;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-1.369;SOR=0.726	GT:AD:DP:GQ:PL	0/1:89,60:149:99:1489,0,2641	5	0	1	0
chr5	141225482	141225482	C	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.C1977A:p.H659Q	.	99	1419	3	0	1	4	0.00105597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.016289164744	0.0011	0.000399361	0.0009	0.0005	0.0006	0.0001	0.0003	0.0013	0	0.0002	5.82e-05	9	154602	rs142121806	0.0010	0.0010	0.0010	0.0010	0.0032	0.0010	0.0010	0.0019	0.0016	0.0004	0.0006	0.0053	5.04e-05	0.0002	0.0032	0.0011	0.0010	0.0002	0.0009	0.0009	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0009	0.0005	0	0.0006	0.0060	0	9.413e-05	0.0034	0.0011	0.0014	0.0002	0.169	0.22920	T	0.174	0.30045	T	0.104	0.25941	B	0.092	0.30031	B	.	.	.	.	0.920773	0.27298	N	0.73	0.18813	N	0.75	0.50192	T	-5.92	0.88963	D	0.082	0.16864	-0.9877	0.33175	T	0.118	0.41429	T	9	0.014046013	0.00296	T	0.016289	0.37474	T	0.075	0.21907	0.442	0.49811	0.349429436713	0.34558	0.1427720536024847	0.14200	0.26085393997	0.28643	0.577068328857	0.49672	T	0.025853	0.19251	T	-0.469578	0.00855	T	-0.492844	0.23094	T	0.0349679670934078	0.02803	T	0.463654	0.13513	T	0.2131337	0.43683	0.2868609	0.54695	0.2131337	0.43683	0.2868609	0.54695	-10.343	0.76893	D	.	.	0.150	0.36495	B	.;.	.;.	1.479803	0.19053	14.06	0.96793990690442477	0.31124	0.17980	0.20069	N	AEFI	0.111834	0.22127	N	-0.390303019639772	0.25812	1.404082	-0.351166575584386	0.26473	1.462459	1.0724342369506E-4	0.05123	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.83	2.62	0.30337	-1.967000	0.01598	.	.	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.271000	0.23793	0.0:0.7681:0.0:0.2319	8.288	0.31102	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	0.002818	0.000000	0.002732	0.004274	0.000000	0.017544	0.000000	0.000000	0.08333	1001.83	91	chr5	141225482	.	C	A	1001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.58;MQRankSum=1.07;QD=13.91;ReadPosRankSum=0.22;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,38:72:99:1|0:141225458_T_G:1012,0,1201:141225458	5	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	G	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,32:133:99:0|1:141303079_C_G:454,0,3549:141303079	4	0	2	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	861.73	33	chr5	141303081	.	A	G	861.73	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.225;DP=788;ExcessHet=1.383;FS=172.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.59;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,32:133:99:0|1:141303079_C_G:454,0,3549:141303079	2	0	3	1
chr5	141408397	141408397	G	C	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.G195C:p.K65N,PCDHGB6:NM_032100:exon1:c.G195C:p.K65N	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00899266648523	8.2e-05	0.000199681	0.0003	0	0	0.0031	0	3e-05	0.0011	6.056e-05	0.000207	32	154602	rs376067853	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0050	0.0048	0	0	0	0.0056	0	0.0002	1.439e-05	0.0001	3.478e-05	7.874e-05	7.873e-05	5.137e-05	0.0001	0.0023	4.491e-05	3.508e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0	0.445	0.09128	T	0.366	0.16668	T	0.058	0.28027	B	0.065	0.35187	B	.	.	.	.	1	0.81001	D	1.02	0.25474	L	1.64	0.27822	T	-1.81	0.42575	N	0.412	0.49146	-1.0062	0.28095	T	0.054	0.22770	T	9	0.012593955	0.00270	T	0.008993	0.23678	T	0.062	0.17934	0.61	0.74300	0.554640639675	0.55122	0.6446117674095414	0.64396	0.57321118132	0.53386	.	.	.	0.005901	0.05345	T	-0.562951	0.00244	T	-0.585094	0.14094	T	0.0265339997588801	0.01479	T	0.510949	0.16331	T	0.06370539	0.13441	0.09538345	0.22620	0.06370539	0.13441	0.09538345	0.22619	-8.197	0.64462	D	.	.	0.339	0.55842	B	.;.	.;.	1.440196	0.18595	13.82	0.9746145993745442	0.34084	0.30328	0.24054	N	AEFDGBI	0.266436	0.38335	N	-0.467370308737467	0.23155	1.241472	-0.378317620900665	0.25645	1.411558	0.999883372122261	0.44867	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	3.16	0.35406	-0.197000	0.09519	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.826000	0.38927	0.2436:0.1249:0.4274:0.2042	1.454	0.02237	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	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	0.001523	0.000000	0.000000	0.003067	0.000000	0.000000	0.000000	0.007576	0.08333	1528.83	42	chr5	141408397	.	G	C	1528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=325;ExcessHet=0;FS=6.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.02;SOR=0.862	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1539,0,1575	5	0	1	0
chr5	141528455	141528455	C	T	exonic	DIAPH1	.	nonsynonymous SNV	DIAPH1:NM_001079812:exon22:c.G3119A:p.R1040Q,DIAPH1:NM_001314007:exon23:c.G3146A:p.R1049Q,DIAPH1:NM_005219:exon23:c.G3146A:p.R1049Q	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.8939	0.722	YES	1998966	Autosomal_dominant_nonsyndromic_hearing_loss_1|Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome	MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635|MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0149706596744	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755247462	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.055	0.47097	T	0.63	0.40197	P	0.038	0.23361	B	0.000001	0.84330	D	0.000000	0.999781	0.51308	D	2.335	0.66956	M	2.36	0.16089	T	-1.87	0.43717	N	0.449	0.50056	-1.1198	0.02344	T	0.039	0.16806	T	10	0.34757835	0.51689	T	0.014971	0.35426	T	0.196	0.47777	0.54	0.65161	0.622101920318	0.61903	0.22114100016214017	0.22029	1.39354771118	0.85045	0.491130888462	0.37595	T	0.19915	0.55634	T	0.138631	0.68194	D	-0.0386431	0.67793	D	0.948454082012177	0.62899	D	0.937406	0.76468	D	0.4605614	0.64706	0.30687708	0.56711	0.4605614	0.64706	0.30687708	0.56710	-14.725	0.95175	D	.	.	0.287	0.55760	B	.;.;.;.;.;.	.;.;.;.;.;.	5.237167	0.87916	29.4	0.99887611714682289	0.96204	0.88100	0.47882	D	AEFDGBCIJ	0.614537	0.60182	D	0.269897620616111	0.54630	3.628066	0.374716073708867	0.60011	4.184082	0.999999999447762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	3.383000	0.52206	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.9202:0.0:0.0798	12.618	0.55944	704	0.57414	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	.	.	.	.	.	.	.	.	0.08333	1277.83	37	chr5	141528455	.	C	T	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=1.83;SOR=0.727	GT:AD:DP:GQ:PL	0/1:89,50:139:99:1288,0,2338	5	0	1	0
chr5	142770851	142770851	C	A	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon1:c.C90A:p.D30E,ARHGAP26:NM_015071:exon1:c.C90A:p.D30E	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0126595742037	.	.	8.313e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs769376651	6.85e-07	6.84e-07	0	1.377e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.031	0.20130	B	0.039	0.23607	B	0.000001	0.84330	D	0.052698	0.999753	0.48800	D	0.44	0.12706	N	1.74	0.26301	T	0.66	0.02297	N	0.091	0.06990	-1.0111	0.26573	T	0.021	0.08778	T	10	0.06280911	0.08088	T	0.01266	0.31427	T	0.081	0.23632	0.257	0.19845	0.382940591053	0.37911	0.31117191971497926	0.31030	1.12549069196	0.78439	0.693325102329	0.66183	T	0.084764	0.37350	T	-0.211262	0.19200	T	-0.440609	0.28740	T	0.198714618110869	0.20345	T	0.831917	0.49916	T	0.20455274	0.42568	0.13955624	0.33294	0.20455274	0.42568	0.13955624	0.33293	-3.819	0.21089	T	.	.	0.127	0.27039	B	.;.;.	.;.;.	2.566318	0.33247	19.28	0.9066747695182098	0.19918	0.72003	0.35260	D	ALL	0.208050	0.33417	N	-0.881586154428409	0.11281	0.5435636	-0.651704776311111	0.18174	0.9696775	0.999992696364091	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.61	2.4	0.28568	0.054000	0.14087	1.985000	0.30052	0.598000	0.34611	0.859000	0.30595	1.000000	0.68203	0.997000	0.79791	0.0:0.6261:0.14:0.2339	6.863	0.23258	570	0.70478	GRAF, BAR domain;GRAF, BAR domain;GRAF, BAR domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1232.83	33	chr5	142770851	.	C	A	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.282;DP=295;ExcessHet=0;FS=2.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.243;SOR=0.955	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1243,0,1875	5	0	1	0
chr5	149944375	149944375	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G299A:p.R100Q	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	298113	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	0.0613741473385	7.7e-05	0.000599042	0.0005	9.612e-05	8.639e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199738915	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	6.709e-05	3.826e-05	2.519e-05	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	4.816e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0.0005	0.0037	0.052	0.39097	T	0.049	0.48336	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.355	0.67662	M	-0.41	0.69413	T	-3.22	0.64939	D	0.896	0.89577	-0.1886	0.77963	T	0.460	0.79066	T	10	0.096933514	0.17421	T	0.061374	0.68310	D	0.620	0.85249	.	.	0.919440382184	0.91862	0.3172496280650157	0.31637	0.530887566626	0.50614	0.45652359724	0.32834	T	0.29179	0.85714	T	-0.0983919	0.36693	T	0.0825257	0.75747	D	0.162289581350882	0.18039	T	0.990041	0.96927	D	0.67535186	0.76720	0.47112358	0.69334	0.67535186	0.76721	0.47112358	0.69335	-11.141	0.80425	D	0.3554479733420268	0.45233	0.756	0.75317	P	.;.;.	.;.;.	5.246197	0.88079	29.5	0.99955934460348494	0.99975	0.98544	0.83920	D	AEFBI	0.937248	0.93476	D	0.77976261141028	0.84823	8.397035	0.76699137000927	0.87421	9.21608	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	527.83	44	chr5	149944375	.	C	T	527.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.082;DP=267;ExcessHet=0;FS=3.431;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.128;SOR=0.544	GT:AD:DP:GQ:PL	0/1:45,23:68:99:538,0,1233	5	0	1	0
chr5	149944400	149944400	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G274A:p.D92N	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	296294	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.784	0.113893226854	7.7e-05	0.000599042	0.0005	9.612e-05	8.637e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199924410	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.987e-05	6.708e-05	3.826e-05	0	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0.0003	0	0	0	0.0001	0.0005	0.0037	0.014	0.53172	D	0.004	0.76473	D	0.828	0.46021	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.555	0.93317	H	-0.79	0.73739	T	-4.06	0.74582	D	0.897	0.90025	0.401	0.89115	D	0.586	0.85167	D	10	0.15233639	0.28777	T	0.113893	0.79256	D	0.784	0.92827	.	.	0.959201930552	0.95876	0.46917647258422523	0.46836	0.492454931877	0.47890	0.571771860123	0.48929	T	0.477473	0.93548	T	-0.286847	0.09955	T	-0.188177	0.55760	T	0.322011649589756	0.25903	T	0.975602	0.91418	D	0.7080398	0.78500	0.6784628	0.81113	0.7080398	0.78501	0.6784628	0.81113	-11.987	0.84788	D	0.5802175747067403	0.64707	0.301	0.53080	B	.;.;.	.;.;.	4.771144	0.77233	26.7	0.99902036683565598	0.97350	0.98544	0.83920	D	AEFBI	0.940572	0.94270	D	0.809232720125816	0.86682	8.963824	0.788593331931833	0.88989	9.794523	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF 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	.	.	.	.	.	.	.	.	0.08333	488.83	44	chr5	149944400	.	C	T	488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=268;ExcessHet=0;FS=2.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.933;SOR=0.592	GT:AD:DP:GQ:PL	0/1:48,21:69:99:499,0,1397	5	0	1	0
chr5	151666438	151666438	G	T	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309443:exon8:c.C654A:p.D218E,SPARC:NM_001309444:exon8:c.C657A:p.D219E,SPARC:NM_003118:exon8:c.C657A:p.D219E	Osteogenesis imperfecta, type XVII, Autosomal recessive	430	1088	4	0	0	4	0.00183486	.	.	.	589088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0225487785132	0.0008	0.000599042	0.0006	0	0.0003	0	0	0.0010	0	0.0005	0.0006015	93	154602	rs141567625	0.0006	0.0006	0.0006	0.0006	0.0023	0.0006	0.0006	0.0013	0.0011	0.0002	0.0005	0.0003	2.519e-05	0	0.0023	0.0007	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0001	0.0143	0.0012	0.0009	0	0	0.0034	0.0007	0.0014	0.0006	0.185	0.23450	T	0.0	0.92824	D	0.48	0.36739	P	0.349	0.42787	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.145	0.60081	M	1.8	0.25344	T	-2.86	0.60188	D	0.732	0.73285	-1.1277	0.01896	T	0.077	0.30920	T	10	0.01856038	0.00405	T	0.022549	0.45449	T	0.166	0.42578	0.557	0.67547	0.383609287871	0.37977	0.6481346045907727	0.64749	1.08819762492	0.77359	0.75154364109	0.74675	T	0.334009	0.70379	T	-0.26782	0.12002	T	-0.224957	0.52260	T	0.0715786176602894	0.08871	T	0.928907	0.73860	D	0.78650045	0.83056	0.61793244	0.77752	0.78650045	0.83057	0.61793244	0.77753	-8.927	0.67226	D	0.4649499817309045	0.54647	0.983	0.94651	P	.;.	.;.	4.140654	0.62030	24.4	0.99742616402470352	0.83629	0.93772	0.59147	D	AEFDBCI	0.877850	0.80274	D	0.327112635259625	0.57544	3.922134	0.455720666874259	0.65083	4.779332	0.999999999075543	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	5.64	0.86480	6.210000	0.72114	7.590000	0.61220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.698	0.96030	878	0.29785	SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain	.	.	.	.	.	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	297.83	37	chr5	151666438	.	G	T	297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.531;DP=197;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.128;SOR=1.058	GT:AD:DP:GQ:PL	0/1:21,15:36:99:308,0,558	5	0	1	0
chr5	154713056	154713056	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367717:exon1:c.C131T:p.A44V,LARP1:NM_015315:exon1:c.C131T:p.A44V	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0237734671981	0.0018	0.000599042	0.0020	0.0005	0.0022	0	0.0003	0.0031	0.0022	0.0005	0.0019405	300	154602	rs148235669	0.0029	0.0029	0.0030	0.0028	0.0038	0.0028	0.0028	0.0034	0.0033	0.0007	0.0016	0.0014	2.519e-05	0.0004	0.0038	0.0035	0.0024	0.0008	0.0018	0.0018	0.0020	0.0016	0.0029	0.0016	0.0016	0.0026	0.0024	0.0006	0	0.0021	0.0020	0	0.0002	0.0068	0.0029	0.0038	0.0006	0.304	0.14303	T	0.056	0.46632	T	0.197	0.29559	B	0.099	0.30579	B	.	.	.	.	0.999973	0.18612	N	.	.	.	1.82	0.25018	T	-0.56	0.17003	N	0.375	0.41656	-1.0304	0.20325	T	0.042	0.18160	T	8	0.0072264075	0.00164	T	0.023773	0.46744	T	0.048	0.13305	.	.	0.435088243681	0.43129	0.05618138633720036	0.05559	0.623265000944	0.56557	0.386894404888	0.23231	T	.	.	.	-0.509165	0.00507	T	-0.506578	0.21668	T	0.0207578805197638	0.00775	T	0.448055	0.12582	T	.	.	.	.	.	.	.	.	-4.092	0.25172	T	.	.	0.082	0.08609	B	.	.	1.876866	0.23837	16.17	0.95729724347972733	0.27669	0.70415	0.34581	D	AEFDBHCI	0.139694	0.26137	N	-0.495662974619216	0.22223	1.185069	-0.458879772951925	0.23297	1.269748	0.999997668802424	0.74766	0.40479	0.06251	1	0.573888	0.26702	0	0.685912	0.62441	0	0.631631	0.49550	0	.	.	3.81	2.94	0.33188	2.844000	0.47946	0.920000	0.22697	-0.218000	0.08083	0.961000	0.33663	0.172000	0.23351	0.002000	0.04165	0.2222:0.7778:0.0:0.0	8.889	0.34585	912	0.21483	.	.	.	.	.	.	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	0.005539	0.005051	0.004076	0.011696	0.000000	0.000000	0.003049	0.003788	0.08333	596.83	34	chr5	154713056	.	C	T	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.084;DP=251;ExcessHet=0;FS=2.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.758;SOR=1.061	GT:AD:DP:GQ:PL	0/1:44,27:71:99:607,0,1093	5	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	448.6	129	chr5	154834880	.	G	C	448.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.142;DP=810;ExcessHet=1.383;FS=305.479;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.852;SOR=9.712	GT:AD:DP:GQ:PL	0/1:80,36:123:99:123,0,1758	3	0	3	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	40846.1	393	chr5	157052557	.	C	*	40846.1	.	AC=4;AF=0.333;AN=12;DP=2554;ExcessHet=1.383;FS=2.719;MLEAC=4;MLEAF=0.333;MQ=60;QD=17.49;SOR=0.518	GT:AD:DP:GQ:PL	0/1:195,147:342:99:5523,0,7677	2	0	4	0
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-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	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.08333	803.83	34	chr5	159323321	.	C	T	803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=251;ExcessHet=0;FS=1.867;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.01;SOR=0.968	GT:AD:DP:GQ:PL	0/1:48,33:81:99:814,0,1160	5	0	1	0
chr5	163478715	163478715	G	A	exonic	HMMR	.	nonsynonymous SNV	HMMR:NM_001142557:exon9:c.G1039A:p.A347T,HMMR:NM_012485:exon11:c.G1252A:p.A418T,HMMR:NM_001142556:exon12:c.G1300A:p.A434T,HMMR:NM_012484:exon12:c.G1297A:p.A433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00296335146627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.736e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.22920	T	0.588	0.12072	T	0.147	0.40281	B	0.05	0.32546	B	0.348895	0.13847	N	0.672783	0.996223	0.26678	N	2.505	0.72935	M	3.21	0.07125	T	-0.8	0.22078	N	0.184	0.23632	-1.0114	0.26478	T	0.020	0.08593	T	10	0.094124794	0.16713	T	0.002963	0.06309	T	0.073	0.21317	0.066	0.00312	0.541376754579	0.53790	0.041801672150613915	0.04125	0.0711864951861	0.07972	0.286653876305	0.08436	T	0.232591	0.59919	T	-0.296394	0.09005	T	-0.663526	0.08031	T	0.1490148662738	0.17024	T	0.724128	0.33779	T	0.038203783	0.05044	0.060690712	0.11598	0.038203783	0.05044	0.060690712	0.11598	-3.947	0.27341	T	.	.	0.081	0.09288	B	.;.;.;.	.;.;.;.	1.668638	0.21274	15.13	0.63257777029276374	0.07176	0.34817	0.25157	N	AEFBCI	0.055071	0.10069	N	-0.305210902986116	0.28949	1.601138	-0.277646016851173	0.28836	1.610903	0.999856655661129	0.44174	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	4.43	3.56	0.39892	0.610000	0.23950	3.337000	0.37675	0.590000	0.31872	0.713000	0.28751	0.983000	0.30585	0.059000	0.15899	0.1826:0.1587:0.6587:0.0	6.125	0.19395	935	0.14827	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	724.83	36	chr5	163478715	.	G	A	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.886;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.943;SOR=0.762	GT:AD:DP:GQ:PL	0/1:36,33:69:99:735,0,928	5	0	1	0
chr5	168529692	168529761	GCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA	-	exonic	FBLL1	.	frameshift deletion	FBLL1:NM_001355274:exon1:c.188_257del:p.R64Afs*35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	206.08	20	chr5	168529691	.	GGCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA	G	206.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=54;ExcessHet=0;FS=2.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.309;SOR=1.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,6:18:99:0|1:168529691_GGCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA_G:216,0,486:168529691	5	0	1	0
chr5	168529714	168529714	C	0	exonic	FBLL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	363.41	30	chr5	168529714	.	C	*	363.41	.	AC=1;AF=0.083;AN=12;DP=72;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=20.19;SOR=3.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:13:99:1|0:168529691_GGCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA_G:449,217,318:168529691	5	0	1	0
chr5	171298776	171298776	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon28:c.T3185C:p.L1062P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.0629243440437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.966	0.71341	D	0.070468	0.21537	N	0.389211	0.999999	0.58761	D	2.515	0.73286	M	1.19	0.37578	T	-5.76	0.87835	D	0.835	0.83066	-0.6875	0.61024	T	0.218	0.58085	T	10	0.92304945	0.91656	D	0.062924	0.68806	D	0.493	0.77910	0.739	0.87147	0.514127983839	0.51054	0.7970649270949042	0.79659	0.0906167406109	0.10225	0.617792129517	0.55417	T	0.241049	0.60950	T	0.252154	0.78802	D	0.124425	0.78527	D	0.987900495529175	0.78316	D	0.973703	0.90499	D	0.8941516	0.90866	0.896922	0.94758	0.8941516	0.90868	0.896922	0.94758	-13.628	0.91785	D	.	.	0.995	0.95728	P	.	.	4.263107	0.64809	24.8	0.99841238342801919	0.92143	0.96999	0.72108	D	AEFBI	0.723185	0.67288	D	0.582041614517454	0.72054	5.745787	0.522870119231729	0.69533	5.373814	0.999999785133579	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.49644	0.08281	0	0.645948	0.59608	0	.	.	5.87	5.87	0.94266	4.678000	0.61331	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:0.0:0.0:1.0	14.510	0.67368	676	0.60355	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1031.83	35	chr5	171298776	.	T	C	1031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.209;DP=267;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.124;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1042,0,1280	5	0	1	0
chr5	177592285	177592285	C	T	exonic	TMED9	.	nonsynonymous SNV	TMED9:NM_017510:exon1:c.C71T:p.T24I	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00402724667803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753401092	1.37e-06	2.052e-06	0	2.756e-06	2.991e-05	2.3e-07	9e-08	.	.	2.991e-05	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.335	0.18286	T	0.0	0.02946	B	0.001	0.04355	B	0.082081	0.02365	N	2.051990	1	0.08975	N	0	0.06538	N	2.51	0.14284	T	0.07	0.06138	N	0.195	0.21449	-0.9973	0.30673	T	0.018	0.07423	T	10	0.07565138	0.11718	T	0.004027	0.09587	T	0.014	0.01968	0.465	0.53566	0.0846915920261	0.08053	0.33740531346551306	0.33653	0.436663621925	0.43751	0.455023467541	0.32630	T	0.014127	0.12084	T	-0.297908	0.08858	T	-0.665701	0.07886	T	0.0703189969062805	0.08696	T	0.385961	0.09480	T	0.040866278	0.05912	0.042268585	0.04997	0.040866278	0.05912	0.042268585	0.04996	-5.058	0.37463	T	.	.	0.103	0.18456	B	.	.	0.826607	0.11982	8.538	0.78658806901707523	0.12396	0.09981	0.15610	N	ALL	0.416301	0.48481	N	-1.28480730244418	0.03858	0.1730922	-1.24756278058537	0.05167	0.2455589	0.999999999997853	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.84	2.09	0.26154	-0.116000	0.10697	1.143000	0.24420	-1.054000	0.01632	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1665:0.4932:0.1615:0.1788	1.800	0.02883	809	0.43032	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	593.83	37	chr5	177592285	.	C	T	593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=246;ExcessHet=0;FS=1.22;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-1.21;SOR=0.994	GT:AD:DP:GQ:PL	0/1:31,22:53:99:604,0,831	5	0	1	0
chr5	179878341	179878341	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon10:c.G1750A:p.A584T,TBC1D9B:NM_198868:exon10:c.G1750A:p.A584T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.027961883818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.505	0.72935	M	3.35	0.05989	T	-3.57	0.68999	D	0.967	0.97750	0.124	0.84609	D	0.528	0.82443	D	10	0.9189639	0.91253	D	0.027962	0.50703	D	0.545	0.81077	0.747	0.87821	0.554037457546	0.55062	0.7169074536632921	0.71633	0.763568361251	0.64387	0.855542063713	0.90449	D	0.236309	0.60376	T	0.233519	0.77051	D	0.0976579	0.76752	D	0.997601926326752	0.91964	D	.	.	.	0.8530789	0.87564	0.8953557	0.94646	0.8530789	0.87565	0.8953557	0.94646	-11.35	0.81543	D	.	.	0.729	0.78591	P	.;.	.;.	5.287868	0.88783	29.7	0.99937997311934057	0.99698	0.94898	0.62713	D	AEFDBHCI	0.896410	0.83745	D	0.551856022470688	0.70195	5.466021	0.585173983589697	0.73877	6.042798	1.0	0.98316	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.830000	0.84907	7.636000	0.62963	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.936	0.92558	912	0.21483	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	.	.	.	.	.	.	.	.	0.08333	544.83	38	chr5	179878341	.	C	T	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.093;DP=221;ExcessHet=0;FS=1.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.191;SOR=1.051	GT:AD:DP:GQ:PL	0/1:16,20:36:99:555,0,459	5	0	1	0
chr6	16327687	16327687	C	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	9	1350	129	8	26	171	0.0509666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	628.0	65	chr6	16327687	.	C	*	628.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.495;DP=316;ExcessHet=0.4139;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.114;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,14:37:99:0|1:16327675_CTGA_C:727,0,817:16327675	5	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	503.44	70	chr6	24145554	.	C	T	503.44	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,19:46:99:0|1:24145553_A_G:271,0,381:24145553	3	0	3	0
chr6	27867079	27867079	C	A	exonic	H1-5	.	nonsynonymous SNV	H1-5:NM_005322:exon1:c.G451T:p.A151S	.	424	1061	36	0	1	37	0.0166821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0013	0.00678914	0.0063	0.0004	0.0013	0.0007	0.0002	0.0011	0.0110	0.0391	0.0054204	838	154602	rs145278803	0.0029	0.0029	0.0018	0.0041	0.0377	0.0029	0.0028	0.0366	0.0362	2.993e-05	0.0005	0.0062	0.0013	7.49e-05	0.0071	0.0005	0.0036	0.0377	0.0019	0.0019	0.0013	0.0024	0.0350	0.0017	0.0016	0.0307	0.0290	0.0003	0	0.0005	0.0052	0.0021	0.0002	0.0068	0.0008	0.0038	0.0350	0.459	0.08762	T	0.461	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.004793	0.33389	N	0.239133	0.999983	0.18198	N	-0.08	0.04796	N	2.42	0.15376	T	0.27	0.04306	N	0.174	0.18649	-0.9314	0.43933	T	0.005	0.01578	T	10	0.0012731254	0.00014	T	.	.	.	0.045	0.12272	.	.	0.158540857583	0.15491	0.0680979719865761	0.06747	0.00356511220385	0.00305	0.347121953964	0.17497	T	0.026524	0.19611	T	-0.588763	0.00171	T	-0.589925	0.13672	T	0.00960118568006993	0.00125	T	0.191481	0.02052	T	0.054947678	0.10612	0.051040016	0.08132	0.054947678	0.10611	0.051040016	0.08132	-6.708	0.51870	T	.	.	0.079	0.07507	B	.	.	1.074452	0.14567	11.13	0.90195530381334532	0.19470	0.00198	0.01140	N	AEFDBHCIJ	0.147822	0.27158	N	-0.932036297178994	0.10099	0.4810131	-0.848803464731251	0.13317	0.6901348	0.999999950206103	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.19	0.00442	0.13380	-0.182000	0.09720	-10.258000	0.00721	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.1976:0.3537:0.0:0.4487	3.023	0.05713	477	0.77662	.	.	.	.	.	.	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	0.009567	0.000000	0.005435	0.020468	0.050000	0.000000	0.006098	0.015152	0.08333	545.83	43	chr6	27867079	.	C	A	545.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.771;DP=230;ExcessHet=0;FS=6.25;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.418;SOR=0.855	GT:AD:DP:GQ:PL	0/1:24,22:46:99:556,0,658	5	0	1	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R,HLA-A:NM_002116:exon2:c.A200G:p.Q67R	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0	0	0.041195	0.050505	0.065217	0.020000	0.050000	0.034483	0.012270	0.018939	0.08333	859.83	94	chr6	29942883	.	A	G	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.166;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-1.973;QD=11.62;ReadPosRankSum=0.168;SOR=0.688	GT:AD:DP:GQ:PL	0/1:36,38:74:99:870,0,837	5	0	1	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	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	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.08333	1349.83	33	chr6	30137212	.	C	A	1349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.069;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.803;SOR=0.778	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1360,0,1289	5	0	1	0
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	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	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.08333	1269.83	35	chr6	30552590	.	C	T	1269.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.38;DP=241;ExcessHet=0;FS=6.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.807;SOR=1.131	GT:AD:DP:GQ:PL	0/1:14,47:61:99:1280,0,352	5	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6609.04	475	chr6	31026275	.	A	*	6609.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.096;DP=2099;ExcessHet=0.4139;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.221;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,101:316:99:0|1:31026245_ACCACAGGCT_A:3564,0,8724:31026245	5	0	1	0
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	710398	not_provided|CDSN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	929	0.16858	.	.	.	.	.	.	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	0.000533	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.08333	707.83	78	chr6	31116313	.	G	T	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.77;DP=323;ExcessHet=0;FS=5.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.774;SOR=1.274	GT:AD:DP:GQ:PL	0/1:35,27:62:99:718,0,1007	5	0	1	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,21:151:99:.:.:222,0,4206:.	1	0	5	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1898.64	36	chr6	31356431	.	G	*	1898.64	.	AC=4;AF=0.333;AN=12;DP=258;ExcessHet=1.383;FS=0.513;MLEAC=4;MLEAF=0.333;MQ=55.96;QD=7.45;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,22:36:99:.:.:882,0,522:.	2	0	4	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,18:48:99:0|1:31356711_C_CGGAG:666,0,1206:31356711	1	2	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,18:49:99:0|1:31356711_C_CGGAG:663,0,1248:31356711	1	2	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:57:99:1|1:31356711_C_CGGAG:2565,172,0:31356711	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:31356711_C_CGGAG:3870,259,0:31356711	0	3	3	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	881.01	55	chr6	31412383	.	TG	*	881.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.062;DP=316;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.447;SOR=0.737	GT:AD:DP:GQ:PL	0/1:21,10:31:99:357,0,848	5	0	1	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7740.85	55	chr6	31412384	.	G	*	7740.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=321;ExcessHet=1.383;FS=1.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=0.664;SOR=0.845	GT:AD:DP:GQ:PL	0/1:0,10:31:99:1399,882,848	4	0	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,14:77:99:0|1:31625601_T_C:197,0,2315:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,14:77:99:0|1:31625601_T_C:197,0,2315:31625601	0	0	6	0
chr6	31659104	31659104	C	T	exonic	C6orf47	.	nonsynonymous SNV	C6orf47:NM_021184:exon1:c.G844A:p.E282K	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00589343319346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035256936	3.423e-06	4.104e-06	1.362e-06	5.504e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.072	0.34982	T	0.298	0.20486	T	0.033	0.20350	B	0.027	0.21085	B	0.052796	0.22864	N	0.386550	0.99064	0.24145	N	1.245	0.31408	L	1.0	0.41392	T	-2.74	0.58248	D	0.169	0.17966	-1.0538	0.13359	T	0.045	0.19356	T	10	0.07083699	0.10361	T	0.005893	0.15340	T	0.037	0.09474	.	.	0.238096912614	0.23440	0.09539720249146658	0.09471	0.35609624487	0.37361	.	.	.	0.010537	0.09506	T	-0.201299	0.20618	T	-0.511443	0.21168	T	0.81723815202713	0.47568	D	0.628837	0.24395	T	0.07021855	0.15448	0.16867372	0.38844	0.07021855	0.15447	0.16867372	0.38843	-5.105	0.37960	T	.	.	0.091	0.12985	B	.	.	3.042394	0.40790	21.2	0.99331196730854221	0.59777	0.25057	0.22584	N	AEFDBCI	0.075019	0.15053	N	-0.311262385525933	0.28720	1.586425	-0.219821527051205	0.30825	1.739024	0.999999873367174	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	5.57	4.67	0.58089	1.651000	0.36918	.	.	0.592000	0.32167	0.045000	0.21207	0.025000	0.21018	0.830000	0.39126	0.0:0.8917:0.0:0.1083	9.069	0.35645	889	0.27310	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	914.83	35	chr6	31659104	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.456;DP=244;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.141;SOR=0.984	GT:AD:DP:GQ:PL	0/1:22,37:59:99:925,0,583	5	0	1	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	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	0	0	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.25	175.01	38	chr6	31996544	.	T	C	175.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.39;DP=346;ExcessHet=1.383;FS=57.608;MLEAC=3;MLEAF=0.25;MQ=58.11;MQRankSum=-8.207;QD=0.74;ReadPosRankSum=-0.554;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:0|1:31996539_G_C:135,0,1035:31996539	3	0	3	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	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	0	0	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.25	456.03	38	chr6	31996553	.	T	G	456.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.494;DP=361;ExcessHet=1.383;FS=61.519;MLEAC=3;MLEAF=0.25;MQ=57.98;MQRankSum=-8.669;QD=1.85;ReadPosRankSum=-1.019;SOR=5.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,7:32:99:0|1:31996539_G_C:219,0,1029:31996539	3	0	3	0
chr6	32041093	32041093	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon9:c.C1357T:p.P453S,CYP21A2:NM_001368144:exon9:c.C1042T:p.P348S,CYP21A2:NM_000500:exon10:c.C1447T:p.P483S,CYP21A2:NM_001368143:exon10:c.C1042T:p.P348S	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	7	1504	10	1	0	12	0.00397351	.	.	YES	587370	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|Congenital_adrenal_hyperplasia|CYP21A2-related_disorder|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.510	0.726462387047	.	.	0.0010	0	0.0013	0	0	0.0015	0.0044	0.0004	0.0004592	71	154602	rs776989258	0.0005	0.0005	0.0005	0.0005	0.0102	0.0005	0.0004	0.0079	0.0070	0.0006	0.0009	0.0006	0	0	0.0102	0.0005	0.0007	0.0002	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0067	0.0007	0.0006	0	0	0	0.0005	0.0010	0.0004	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.008303	0.30907	N	0.151867	0.978404	0.39459	D	.	.	.	-1.49	0.81235	T	-3.61	0.72710	D	0.719	0.72120	-0.3104	0.74693	T	0.314	0.68361	T	10	0.19951808	0.35963	T	0.726462	0.97794	D	0.510	0.78971	0.762	0.89053	0.798317084126	0.79643	0.7628597569142505	0.76233	0.0610399350882	0.06795	0.436037421227	0.30035	T	.	.	.	-0.225893	0.17195	T	-0.198093	0.54826	T	0.100600972771645	0.12423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.39254	B	.;.;.;.	.;.;.;.	4.660068	0.74370	26.1	0.99903007287085799	0.97426	0.96959	0.71882	D	AEFGI	0.773592	0.70756	D	0.284674302490804	0.55371	3.701219	0.294644100257834	0.55227	3.685858	0.460908789788945	0.20623	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	4.43	0.52967	2.136000	0.41744	.	.	0.592000	0.32167	0.997000	0.40164	1.000000	0.68203	0.577000	0.30821	0.0:0.9069:0.0:0.0931	10.142	0.41915	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0.006889	0.006098	0.013699	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	183.83	31	chr6	32041093	.	C	T	183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.234;DP=197;ExcessHet=0;FS=1.585;MLEAC=1;MLEAF=0.083;MQ=54.73;MQRankSum=0.355;QD=5.74;ReadPosRankSum=-0.44;SOR=1.284	GT:AD:DP:GQ:PL	0/1:23,9:32:99:194,0,602	5	0	1	0
chr6	32096594	32096594	A	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.T1259C:p.V420A,TNXB:NM_019105:exon3:c.T1259C:p.V420A	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	491445	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.171	0.0376530423833	8.6e-05	0.000998403	0.0010	0	0	0.0007	0	0.0010	0.0031	0.0019	0.0005304	82	154602	rs200226242	0.0004	0.0004	0.0004	0.0005	0.0022	0.0004	0.0004	0.0019	0.0018	3.04e-05	0.0002	0	7.83e-05	2.196e-05	0.0014	0.0003	0.0011	0.0022	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.412e-05	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0037	0.02	0.49613	D	0.05	0.48080	T	.	.	.	.	.	.	0.001375	0.39242	N	0.000000	0.840601	0.40859	D	.	.	.	3.16	0.11082	T	-2.09	0.65858	N	0.338	0.37923	-1.1057	0.03467	T	0.024	0.10013	T	10	0.021895856	0.00534	T	0.037653	0.57750	D	0.171	0.43483	.	.	0.260580752073	0.25663	.	.	.	.	0.823105454445	0.85504	D	0.169836	0.51737	T	-0.438358	0.01322	T	-0.408305	0.32420	T	0.0763345630058551	0.09512	T	0.728227	0.34274	T	0.16489172	0.36727	0.1925641	0.42778	0.15592863	0.35215	0.20120125	0.44088	-8.289	0.63022	D	0.12458666258456502	0.12248	0.317	0.63750	B	.;.;.;.;.	.;.;.;.;.	4.420496	0.68469	25.2	0.97061141808910001	0.32197	0.94377	0.60971	D	AEFDBHCI	0.776753	0.70977	D	0.247701462633987	0.53526	3.520994	0.206530853061734	0.50209	3.215408	0.999999999986826	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.616487	0.41570	0	0.562822	0.20929	0	.	.	4.6	4.6	0.56512	4.032000	0.56985	.	.	0.686000	0.82685	0.952000	0.33172	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.934	0.52150	906	0.23090	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain	.	.	.	.	.	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	0.002753	0.000000	0.002717	0.005319	0.000000	0.008621	0.006250	0.000000	0.08333	1035.83	35	chr6	32096594	.	A	G	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.488;DP=294;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.17;SOR=0.789	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1046,0,1388	5	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3279.47	221	chr6	32521970	.	G	*	3279.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.4;DP=1298;ExcessHet=2.3007;FS=7.707;MLEAC=3;MLEAF=0.3;MQ=55.24;MQRankSum=-8.518;QD=3.33;ReadPosRankSum=-5.796;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,51:112:99:0|1:32521957_G_A:1958,0,2408:32521957	3	1	1	1
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5529.95	226	chr6	32521977	.	TG	*	5529.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.354;DP=1213;ExcessHet=0.095;FS=21.521;MLEAC=2;MLEAF=0.167;MQ=50.64;MQRankSum=-3.365;QD=8.63;ReadPosRankSum=-0.822;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,45:96:99:.:.:3672,1806,1670:.	4	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3949.97	227	chr6	32521978	.	GT	*	3949.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=5.69;DP=1225;ExcessHet=0.7136;FS=4.129;MLEAC=3;MLEAF=0.3;MQ=53.85;MQRankSum=-9.209;QD=4.15;ReadPosRankSum=-5.919;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,87:96:99:0|1:32521957_G_A:4008,361,116:32521957	3	1	1	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6769.44	219	chr6	32521981	.	T	*	6769.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.806;DP=1195;ExcessHet=0.7136;FS=5.046;MLEAC=4;MLEAF=0.4;MQ=51.87;MQRankSum=-7.363;QD=7.31;ReadPosRankSum=-4.572;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:94:99:0|1:32521957_G_A:3927,3569,3542:32521957	1	0	4	1
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1694.13	112	chr6	32522157	.	C	*	1694.13	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.942;DP=854;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.88;MQRankSum=-13.46;QD=3.25;ReadPosRankSum=1.33;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:88:99:0|1:32522157_C_*:152,0,3122:32522157	4	0	2	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1705.45	112	chr6	32522159	.	T	*	1705.45	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.675;DP=846;ExcessHet=0.7136;FS=0.702;MLEAC=2;MLEAF=0.167;MQ=54.94;MQRankSum=-13.42;QD=3.34;ReadPosRankSum=1.46;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,9:85:99:0|1:32522157_C_*:161,0,2996:32522157	4	0	2	0
chr6	32530183	32530183	C	A	exonic	HLA-DRB5	.	nonsynonymous SNV	HLA-DRB5:NM_002125:exon1:c.G42T:p.K14N	.	91	491	549	255	136	1195	0.518863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	.	0.0043	0.0163	0.0031	0.0047	0.0031	0.0036	0.0038	0.0010	0.0061088	159	26028	rs75457801	0.0005	0.0017	0.0005	0.0005	0.0029	0.0005	0.0004	0.0024	0.0022	0.0029	0.0011	0.0007	0.0011	0.0005	0.0008	0.0003	0.0007	0.0010	0.0047	0.0090	0.0045	0.0049	0.0102	0.0044	0.0043	0.0093	0.0090	0.0102	0	0.0035	0.0032	0.0029	0.0022	0.0108	0.0025	0.0060	0.0036	0.0	0.91255	D	0.004	0.74150	D	0.0	0.02946	B	0.0	0.01387	B	0.936540	0.08383	N	0.968061	1	0.08975	N	0	0.06538	N	8.41	0.00237	T	-0.51	0.15986	N	0.207	0.22998	-1.0753	0.08287	T	0.000	0.00039	T	10	0.015625268	0.00328	T	.	.	.	0.067	0.19503	0.2	0.11384	0.0401082797425	0.02173	0.2424787498478645	0.24161	0.0178308956706	0.01746	0.253584623337	0.04154	T	0.010409	0.09402	T	-0.591256	0.00165	T	-0.622913	0.10958	T	0.029669057789863	0.01939	T	0.925407	0.72589	D	0.08798817	0.20509	0.07488305	0.16428	0.08798817	0.20509	0.07488305	0.16428	-3.31	0.13866	T	.	.	0.195	0.41678	B	.	.	1.253906	0.16507	12.59	0.46772957177307106	0.03772	0.00099	0.00643	N	ALL	0.043122	0.06779	N	-1.88726384082248	0.00365	0.01567132	-1.86170671968711	0.00581	0.02581019	0.999994673573998	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.54	-2.98	0.05179	1.165000	0.31432	.	.	-1.632000	0.00852	0.223000	0.24568	0.000000	0.08366	0.000000	0.00833	0.5447:0.3723:0.0829:0.0	7.522	0.26801	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2611.43	155	chr6	32530183	.	C	A	2611.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=584;ExcessHet=2.3007;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-11.28;QD=4.89;ReadPosRankSum=-1.436;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,13:78:99:.:.:359,0,2533:.	5	0	1	0
chr6	32530205	32530205	-	CCA	exonic	HLA-DRB5	.	nonframeshift insertion	HLA-DRB5:NM_002125:exon1:c.19_20insTGG:p.P7delinsLA	.	3	1475	44	0	0	44	0.0146961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.504e-05	0.0002	0	0	0	1.514e-05	0	0	0.0044567	116	26028	rs774116269	7.428e-07	2.14e-05	0	1.484e-06	1.224e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.224e-05	1.323e-05	0.0002	1.294e-05	1.354e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	473.03	102	chr6	32530205	.	G	GCCA	473.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.45;DP=437;ExcessHet=0.4139;FS=17.04;MLEAC=2;MLEAF=0.167;MQ=55.95;MQRankSum=-5.898;QD=2.6;ReadPosRankSum=0.193;SOR=2.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,12:71:99:0|1:32530195_G_A:326,0,2441:32530195	4	0	2	0
chr6	32530207	32530207	-	C	exonic	HLA-DRB5	.	frameshift insertion	HLA-DRB5:NM_002125:exon1:c.17_18insG:p.G8Wfs*34	.	91	1381	43	0	7	50	0.0153298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.516e-05	0.0002	0	0	0	1.521e-05	0	0	0.0043415	113	26028	rs747906579	7.473e-07	2.278e-05	0	1.493e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.594e-05	0.0002	1.559e-05	1.631e-05	0.0002	2.65e-06	9.9e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	485.03	102	chr6	32530207	.	G	GC	485.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=433;ExcessHet=0.4139;FS=14.958;MLEAC=2;MLEAF=0.167;MQ=55.94;MQRankSum=-5.969;QD=2.72;ReadPosRankSum=0.055;SOR=2.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,12:70:99:0|1:32530195_G_A:329,0,2399:32530195	4	0	2	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	4554.09	210	chr6	32581836	.	G	A	4554.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=1380;ExcessHet=0.4139;FS=2.168;MLEAC=1;MLEAF=0.083;MQ=57.56;MQRankSum=-6.148;QD=9.04;ReadPosRankSum=4.69;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:254,40:294:99:.:.:915,0,10545:.	5	0	1	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	3487.75	124	chr6	32584158	.	G	T	3487.75	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.456;DP=758;ExcessHet=0;FS=7.331;MLEAC=1;MLEAF=0.083;MQ=45.4;MQRankSum=5.07;QD=16.93;ReadPosRankSum=1.63;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,45:162:99:0|1:32584143_G_A:1537,0,4777:32584143	5	0	1	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6197.24	167	chr6	32584177	.	CG	*	6197.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=1145;ExcessHet=1.383;FS=0.544;MLEAC=1;MLEAF=0.083;MQ=53.57;MQRankSum=-5.544;QD=8.6;ReadPosRankSum=-0.344;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,62:194:99:0|1:32584161_G_A:2274,0,3625:32584161	5	0	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10658.6	301	chr6	32584370	.	G	*	10658.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.44;DP=1462;ExcessHet=0.7136;FS=8.32;MLEAC=4;MLEAF=0.333;MQ=55;MQRankSum=-13.72;QD=7.58;ReadPosRankSum=-0.126;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,46:142:99:.:.:6143,4043,3893:.	2	0	4	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	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	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.08333	872.83	185	chr6	32589684	.	A	G	872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=929;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.083;MQ=46.79;MQRankSum=1.17;QD=4.72;ReadPosRankSum=1.28;SOR=0.781	GT:AD:DP:GQ:PL	0/1:153,32:185:99:883,0,6303	5	0	1	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1141.06	247	chr6	32641444	.	G	*	1141.06	.	AC=5;AF=0.417;AN=12;DP=896;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=56.04;QD=1.86;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,52:83:99:0|1:32641436_G_A:3485,1302,1145:32641436	2	1	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1183.06	247	chr6	32641445	.	A	*	1183.06	.	AC=5;AF=0.417;AN=12;DP=897;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=55.97;QD=1.93;SOR=1.335	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,52:84:99:0|1:32641436_G_A:3527,1344,1187:32641436	2	1	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1300.06	247	chr6	32641462	.	G	*	1300.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=19.881;MLEAC=5;MLEAF=0.417;MQ=57.02;QD=2.04;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,55:90:99:0|1:32641436_G_A:3869,1476,1304:32641436	2	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1258.06	247	chr6	32641464	.	T	*	1258.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=20.275;MLEAC=5;MLEAF=0.417;MQ=57.32;QD=1.98;SOR=1.48	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,55:89:99:0|1:32641436_G_A:3872,1437,1262:32641436	2	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2032.06	247	chr6	32641501	.	G	*	2032.06	.	AC=5;AF=0.417;AN=12;DP=938;ExcessHet=0.095;FS=5.105;MLEAC=5;MLEAF=0.417;MQ=57.94;QD=3.1;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,49:101:99:0|1:32641501_G_*:4241,2183,2036:32641501	2	1	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2341.06	247	chr6	32641522	.	A	*	2341.06	.	AC=5;AF=0.417;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=5;MLEAF=0.417;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,44:103:99:0|1:32641501_G_*:4596,2504,2345:32641501	2	1	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	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	0	0	.	.	.	.	.	.	.	.	0.08333	2341.06	247	chr6	32641522	.	A	G	2341.06	.	AC=1;AF=0.083;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=1;MLEAF=0.083;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,59:103:99:0|1:32641501_G_*:4596,1875,1670:32641501	5	0	1	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N,HLA-DQB1:NM_002123:exon2:c.C308A:p.T103N	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, 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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.83	180	chr6	32664869	.	G	T	75.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.959;DP=1011;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.083;MQ=58.18;MQRankSum=-8.63;QD=1;ReadPosRankSum=-0.24;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,7:76:86:0|1:32664851_G_C:86,0,2876:32664851	5	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, 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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	20659.0	229	chr6	32664917	.	C	A	20659.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=7.76;DP=1471;ExcessHet=0.095;FS=1.748;MLEAC=2;MLEAF=0.167;MQ=59.42;MQRankSum=-1.372;QD=20.12;ReadPosRankSum=-0.716;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,20:118:99:.:.:4948,4108,4049:.	4	0	2	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	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	0	0	.	.	.	.	.	.	.	.	0.1667	923.06	229	chr6	32664926	.	G	A	923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=8.52;DP=1419;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.76;MQRankSum=-7.886;QD=1.92;ReadPosRankSum=-2.575;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,26:122:99:0|1:32664911_T_G:803,0,3953:32664911	4	0	2	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V,TAP2:NM_018833:exon10:c.A1729G:p.M577V	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1499	20	2	0	24	0.00794176	.	.	.	1155335	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0008	0.0301518	0.0135	0.0012	0.0005	0.0914	0.0002	0.0006	0.0229	0.0440	0.0119468	1847	154602	rs2228391	0.0054	0.0054	0.0043	0.0065	0.0808	0.0053	0.0053	0.0785	0.0775	0.0010	0.0004	0.0003	0.0808	7.64e-05	0.0040	0.0004	0.0083	0.0427	0.0055	0.0055	0.0040	0.0071	0.0948	0.0052	0.0051	0.0879	0.0851	0.0007	0	0.0005	0.0012	0.0948	0	0.0034	0.0004	0.0080	0.0532	0.798	0.18122	T	0.59	0.12037	T	0.003	0.11197	B	0.007	0.12992	B	0.420975	0.12871	N	0.701585	.	.	.	-0.655	0.02084	N	-2.56	0.89627	D	-0.38	0.13805	N	0.035	0.01004	-1.0652	0.10502	T	0.177	0.52146	T	9	0.0018317103	0.00024	T	.	.	.	0.245	0.55201	.	.	.	.	0.39621706378244653	0.39536	0.463953477707	0.45884	0.289935529232	0.08913	T	0.194478	0.55027	T	-0.443903	0.01227	T	-0.33566	0.40836	T	0.00255174892571557	0.00027	T	0.455254	0.13018	T	0.050581872	0.09161	0.10338751	0.24805	0.050581872	0.09161	0.10338751	0.24804	-4.227	0.28816	T	.	.	0.101	0.17402	B	.;.;.;.	.;.;.;.	-0.409092	0.02180	0.214	0.55239157411957363	0.05301	0.18226	0.20172	N	AEFBI	0.087900	0.17821	N	-1.27513763532247	0.03977	0.1786684	-1.27220721765469	0.04810	0.2277881	0.999976508814831	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.17	-4.93	0.02839	-1.770000	0.01889	.	.	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.0745:0.6262:0.2994	11.115	0.47476	934	0.15400	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	rs2228391	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	0.009259	0.000000	0.004076	0.005319	0.050000	0.000000	0.003049	0.018939	0.08333	1392.83	33	chr6	32829996	.	T	C	1392.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=292;ExcessHet=0;FS=4.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.28;SOR=1.028	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1403,0,934	5	0	1	0
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	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	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1667	2968.06	34	chr6	34871686	.	A	G	2968.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.28;DP=377;ExcessHet=0.4139;FS=4.317;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.77;SOR=0.863	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1337,0,1101	4	0	2	0
chr6	35017781	35017781	C	G	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon11:c.C1732G:p.R578G	.	413	1056	52	1	0	54	0.0249307	.	.	.	710467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0050	0.00638978	0.0069	0.0010	0.0025	0.0007	0.0018	0.0066	0.0089	0.0199	0.0066041	1021	154602	rs62402705	0.0078	0.0078	0.0073	0.0084	0.0225	0.0077	0.0077	0.0217	0.0213	0.0010	0.0035	0.0143	0.0006	0.0014	0.0116	0.0074	0.0083	0.0225	0.0055	0.0055	0.0057	0.0054	0.0151	0.0052	0.0051	0.0123	0.0113	0.0010	0.0395	0.0056	0.0147	0.0012	0.0025	0.0102	0.0074	0.0061	0.0151	0.058	0.37750	T	0.028	0.54934	D	0.028	0.19712	B	0.037	0.23121	B	0.058918	0.22364	N	0.316487	1	0.81001	D	1.5	0.37844	L	1.15	0.38236	T	-0.48	0.15379	N	0.153	0.15749	-1.0507	0.14203	T	0.035	0.15074	T	10	0.0024096668	0.00036	T	.	.	.	0.014	0.01968	.	.	0.264728329957	0.26087	0.17498850738318864	0.17417	0.443632335628	0.44285	0.220682531595	0.01350	T	0.059741	0.31197	T	-0.496311	0.00600	T	-0.469437	0.25576	T	0.0163629167346407	0.00405	T	0.758124	0.38180	T	0.07298053	0.16274	0.08732158	0.20290	0.07298053	0.16274	0.08732158	0.20289	-3.293	0.13647	T	.	.	0.073	0.04723	B	.;.	.;.	2.571998	0.33327	19.31	0.99408043257429679	0.63122	0.89785	0.50476	D	AEFDBHCI	0.375513	0.46001	N	-0.236487996720974	0.31647	1.776601	-0.104423887788837	0.35211	2.034469	0.99999969448561	0.74766	0.626454	0.40138	0	0.653731	0.59785	0	0.80507	0.99327	0	0.372554	0.06265	0	.	.	5.29	4.39	0.52211	2.559000	0.45550	2.269000	0.31817	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.3184:0.6816:0.0:0.0	12.251	0.53914	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	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.011696	0.000000	0.000000	0.012195	0.003788	0.08333	565.83	35	chr6	35017781	.	C	G	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.566;SOR=0.741	GT:AD:DP:GQ:PL	0/1:48,26:74:99:576,0,1270	5	0	1	0
chr6	36963873	36963873	C	G	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon6:c.C1321G:p.P441A,PI16:NM_001199159:exon7:c.C1321G:p.P441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00391011613149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.07	0.43721	T	0.243	0.30970	B	0.054	0.25828	B	0.830933	0.06941	N	1.094980	1	0.08975	N	1.78	0.46185	L	3.22	0.07024	T	-0.8	0.22078	N	0.229	0.25745	-0.9143	0.46311	T	0.006	0.02168	T	10	0.078158796	0.12424	T	0.00391	0.09211	T	0.016	0.02506	0.455	0.51938	0.230578612272	0.22657	0.16519078818047536	0.16439	0.304447295284	0.32750	0.28757494688	0.08570	T	0.008939	0.08170	T	-0.291157	0.09520	T	-0.656004	0.08539	T	0.0558541706268698	0.06499	T	0.466353	0.13696	T	0.037378915	0.04780	0.029669136	0.01330	0.037378915	0.04780	0.029669136	0.01330	-5.266	0.39606	T	.	.	0.064	0.01577	B	.;.;.	.;.;.	-0.196059	0.03111	0.494	0.89631702621279741	0.18964	0.03395	0.08508	N	AEFDGBI	0.040758	0.06105	N	-0.768422788117701	0.14137	0.7018532	-0.829361614471576	0.13784	0.7169674	0.999995793504319	0.74766	0.615755	0.39536	0	0.616935	0.53198	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	4.97	2.18	0.26813	-0.275000	0.08557	-1.825000	0.04657	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.6472:0.1686:0.1842	5.249	0.14829	846	0.36215	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	419.83	38	chr6	36963873	.	C	G	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.12;SOR=0.749	GT:AD:DP:GQ:PL	0/1:31,19:50:99:430,0,734	5	0	1	0
chr6	43187980	43187980	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1849A:p.E617K	.	436	1053	33	0	0	33	0.0154278	.	.	.	710526	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.154	.	0.0066	0.00219649	0.0064	0.0018	0.0052	0	0.0032	0.0092	0.0144	0.0028	0.006617	1023	154602	rs145911635	0.0092	0.0092	0.0094	0.0090	0.0198	0.0091	0.0090	0.0168	0.0157	0.0016	0.0052	0.0217	5.038e-05	0.0030	0.0198	0.0103	0.0113	0.0024	0.0064	0.0064	0.0070	0.0057	0.0099	0.0060	0.0059	0.0093	0.0091	0.0013	0	0.0077	0.0205	0	0.0023	0.0238	0.0099	0.0066	0.0015	0.084	0.32929	T	0.445	0.13140	T	0.0	0.02946	B	0.001	0.04355	B	0.054435	0.02061	N	1.879480	1	0.08975	N	0.255	0.09829	N	-0.73	0.73100	T	-0.92	0.24676	N	0.104	0.08786	-0.9962	0.30974	T	0.110	0.39580	T	10	0.003047973	0.00050	T	.	.	.	0.154	0.40340	.	.	0.320526991862	0.31653	0.29360034138945273	0.29273	0.382302591889	0.39563	0.327387154102	0.14539	T	0.099379	0.40414	T	-0.465329	0.00910	T	-0.43337	0.29553	T	0.00907265032461915	0.00114	T	0.69563	0.30512	T	0.04994291	0.08945	0.057893068	0.10604	0.04994291	0.08945	0.057893068	0.10603	-6.217	0.48061	T	.	.	0.074	0.04932	B	.;.	.;.	1.648985	0.21042	15.02	0.99332969980838004	0.59856	0.13633	0.17966	N	AEFBI	0.051366	0.09068	N	-0.640155276472199	0.17747	0.915861	-0.597608556380353	0.19555	1.049719	0.999800144230069	0.43304	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.72	2.9	0.32809	1.739000	0.37842	1.449000	0.26590	0.618000	0.50648	0.566000	0.27473	0.122000	0.22912	0.549000	0.30150	0.1878:0.1703:0.6419:0.0	5.388	0.15527	309	0.87553	.;.	.	.	.	.	.	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	0.021148	0.005051	0.021739	0.035088	0.000000	0.034483	0.018293	0.011364	0.08333	1633.83	36	chr6	43187980	.	G	A	1633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.901;SOR=0.669	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1644,0,1616	5	0	1	0
chr6	46829424	46829424	C	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon10:c.C997G:p.R333G	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	.	.	0.00199681	0.0007	0	8.637e-05	0	0	1.498e-05	0	0.0054	0.0006533	101	154602	rs201186238	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0003	0	0	0	0.0005	2.698e-06	0.0004	0.0045	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0.0001	0	0	0	0	0	0	0.0058	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.985	0.85602	M	4.51	0.02015	T	-6.61	0.92086	D	0.859	0.87373	-1.1447	0.01192	T	0.024	0.10329	T	10	0.04244271	0.02994	T	.	.	.	0.484	0.77335	0.694	0.83126	0.674972744706	0.67221	0.5363943928423892	0.53564	0.584147767262	0.54101	0.639661848545	0.58516	T	0.289172	0.66196	T	-0.131432	0.31265	T	0.0396594	0.72905	D	0.153814071111954	0.17403	T	0.958304	0.84304	D	0.9174281	0.92999	0.8762551	0.93301	0.9174281	0.93000	0.8762551	0.93301	-10.656	0.77738	D	.	.	0.693	0.78681	P	.;.	.;.	4.406280	0.68124	25.2	0.99906449858902402	0.97726	0.97303	0.73904	D	AEFDBHI	0.706781	0.66173	D	0.747708703243536	0.82754	7.841664	0.698254221804271	0.82247	7.719733	0.701624990667849	0.22707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.67	4.73	0.59485	2.703000	0.46778	2.184000	0.31153	0.599000	0.40250	0.984000	0.35821	0.972000	0.29809	0.990000	0.65344	0.1334:0.8665:0.0:0.0	17.353	0.87217	618	0.66225	MAM domain|MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	897.83	35	chr6	46829424	.	C	G	897.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=248;ExcessHet=0;FS=3.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.295;SOR=1.13	GT:AD:DP:GQ:PL	0/1:42,32:74:99:908,0,1065	5	0	1	0
chr6	47879229	47879229	T	C	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_001013732:exon3:c.A1615G:p.R539G,PTCHD4:NM_001384253:exon5:c.A1606G:p.R536G	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	.	.	0.00359425	0.0027	9.905e-05	0.0006	0	0	3.084e-05	0.0068	0.0187	0.0023156	358	154602	rs554563949	0.0010	0.0010	0.0006	0.0015	0.0153	0.0010	0.0010	0.0146	0.0144	5.979e-05	0.0002	3.83e-05	2.521e-05	0	0.0003	6.927e-05	0.0017	0.0153	0.0006	0.0006	0.0003	0.0008	0.0166	0.0005	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	5.884e-05	0	0.0166	0.28	0.15509	T	0.099	0.38891	T	0.003	0.11197	B	0.027	0.21085	B	0.000024	0.55875	D	0.113761	0.999955	0.19072	N	0	0.06538	N	-1.98	0.85247	D	-1.69	0.40274	N	0.302	0.34120	-0.9555	0.40006	T	0.175	0.51911	T	10	0.0047989488	0.00102	T	.	.	.	0.237	0.54074	0.551	0.66716	0.379020345274	0.37515	0.35319058205563153	0.35233	0.13409771517	0.15106	0.316842019558	0.12943	T	0.331446	0.70152	T	-0.355914	0.04367	T	-0.271049	0.47714	T	0.0100113445564684	0.00134	T	0.893511	0.63097	D	0.11656942	0.27494	0.15231244	0.35840	0.11656942	0.27493	0.15231244	0.35839	-4.927	0.36037	T	.	.	0.191	0.41047	B	.	.	2.026673	0.25753	16.88	0.81369127065807101	0.13651	0.78547	0.38768	D	AEFBI	0.354947	0.44685	N	-1.06099961976373	0.07373	0.342321	-0.936646649742527	0.11234	0.5710547	2.85252191466908E-4	0.06355	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.48	1.06	0.19341	2.967000	0.48908	3.552000	0.39052	-0.876000	0.02500	0.753000	0.29166	0.801000	0.26950	0.836000	0.39433	0.0:0.0:0.2247:0.7753	15.295	0.73601	661	0.61838	.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	2226.83	34	chr6	47879229	.	T	C	2226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.611;DP=354;ExcessHet=0;FS=3.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.394;SOR=0.606	GT:AD:DP:GQ:PL	0/1:78,77:155:99:2237,0,2263	5	0	1	0
chr6	52896870	52896870	C	G	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon6:c.G455C:p.S152T,GSTA3:NM_000847:exon7:c.G605C:p.S202T	.	421	1087	14	0	0	14	0.00639854	.	.	.	735704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0005	0.00419329	0.0036	0.0002	0.0036	0.0001	0	0.0006	0.0022	0.0208	0.0030271	468	154602	rs149910347	0.0016	0.0016	0.0010	0.0022	0.0192	0.0015	0.0015	0.0184	0.0181	2.988e-05	0.0022	0.0057	2.519e-05	0	0.0052	0.0003	0.0018	0.0192	0.0011	0.0011	0.0007	0.0015	0.0164	0.0009	0.0009	0.0135	0.0124	0.0002	0	0.0023	0.0052	0	0	0	0.0003	0.0009	0.0164	0.026	0.49117	D	0.035	0.53788	D	0.996	0.68779	D	0.821	0.59116	P	0.000000	0.84330	D	0.000000	0.721008	0.33617	D	4.045	0.97016	H	3.8	0.03781	T	-2.83	0.59710	D	0.317	0.36148	-1.0528	0.13628	T	0.035	0.15204	T	10	0.004918754	0.00105	T	.	.	.	0.191	0.46948	.	.	0.319970858106	0.31615	0.2172488376076375	0.21640	0.0374744692565	0.03975	0.483047127724	0.36475	T	0.258356	0.62950	T	-0.473515	0.00808	T	-0.438011	0.29031	T	0.118626559516602	0.14295	T	0.974503	0.90930	D	0.69049233	0.77538	0.39724603	0.64344	0.69049233	0.77540	0.39724603	0.64344	-7.608	0.58367	D	.	.	0.259	0.54198	B	.;.	.;.	3.128571	0.42264	21.5	0.99453496129180641	0.65427	0.97502	0.75165	D	AEFBI	0.632597	0.61315	D	0.645146737021222	0.76056	6.416434	0.503221332057515	0.68208	5.18825	0.0280851422141881	0.13811	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	5.859000	0.69288	6.483000	0.55742	0.599000	0.40250	1.000000	0.71638	0.821000	0.27127	0.746000	0.35646	0.0:1.0:0.0:0.0	12.793	0.56925	499	0.76092	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	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	0.006546	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.022727	0.08333	571.83	33	chr6	52896870	.	C	G	571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.396;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.151;SOR=0.708	GT:AD:DP:GQ:PL	0/1:21,21:42:99:582,0,515	5	0	1	0
chr6	54354599	54354599	T	C	exonic	TINAG	.	nonsynonymous SNV	TINAG:NM_014464:exon9:c.T1213C:p.Y405H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0606732578809	.	0.000399361	7.539e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs561602659	1.714e-05	1.779e-05	1.637e-05	1.791e-05	0.0003	1.176e-05	9.94e-06	0.0002	0.0002	0	0	0	0	0	0	0	3.323e-05	0.0003	1.317e-05	1.313e-05	0	2.694e-05	0.0004	2.19e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.064	0.36509	T	0.128	0.34959	T	0.998	0.73220	D	0.876	0.62173	P	0.000025	0.55875	D	0.000000	0.825054	0.28833	N	0.67	0.16346	N	-1.77	0.83660	D	-1.74	0.41239	N	0.332	0.37301	-0.3640	0.73144	T	0.369	0.72880	T	10	0.07186422	0.10652	T	0.060673	0.68080	D	0.356	0.67691	0.36	0.36385	0.537356456974	0.53385	0.7469859268014984	0.74644	0.00922494675709	0.00836	0.602947831154	0.53320	T	0.213426	0.57474	T	-0.280701	0.10593	T	-0.319017	0.42682	T	0.372292548418045	0.27885	T	0.690631	0.30012	T	0.10017042	0.23649	0.11975008	0.28901	0.10017042	0.23649	0.11975008	0.28901	-5.801	0.44583	T	.	.	0.109	0.20896	B	.	.	2.743938	0.35944	20.1	0.99657715948312575	0.77694	0.76795	0.37693	D	AEFGBI	0.164534	0.29094	N	0.192938695035556	0.50860	3.272076	0.167293933183611	0.48066	3.027611	0.00572003649094246	0.11022	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.54	4.37	0.51830	2.741000	0.47100	5.081000	0.47267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.1684:0.0:0.8316	7.457	0.26444	833	0.38804	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-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	.	.	.	.	.	.	.	.	0.08333	1325.83	34	chr6	54354599	.	T	C	1325.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.039;DP=264;ExcessHet=0;FS=2.798;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=1.3;SOR=0.449	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1336,0,797	5	0	1	0
chr6	57606426	57606426	C	T	exonic	PRIM2	.	nonsynonymous SNV	PRIM2:NM_000947:exon12:c.C1199T:p.S400L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.928e-07	1.368e-06	0	1.395e-06	2.543e-05	0	0	.	.	0	0	0	2.543e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.44702	T	0.708	0.42036	P	0.392	0.44215	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.33030	.	.	.	.	.	.	.	0.22984129	0.39922	T	.	.	.	.	.	.	.	0.583052320349	0.57977	0.39233447209689587	0.39148	.	.	0.423824578524	0.28363	T	0.020551	0.16160	T	-0.0516694	0.44194	T	-0.311996	0.43443	T	.	.	.	0.860114	0.55285	D	0.39527145	0.60403	0.5562562	0.74334	0.39527145	0.60404	0.5562562	0.74335	-7.725	0.59181	D	.	.	0.09	0.12607	B	.	.	2.568455	0.33279	19.29	0.70571058195452097	0.09339	0.89095	0.49358	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999996578383	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.292527	0.05481	0	0.266559	0.05369	1	0.802457	0.47526	5.91	5.05	0.67566	3.507000	0.53128	3.322000	0.37553	0.423000	0.20817	0.997000	0.40164	0.998000	0.33993	0.982000	0.59238	0.0:0.9321:0.0:0.0679	15.061	0.71618	718	0.55760	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	614.83	34	chr6	57606426	.	C	T	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.969;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.52;MQRankSum=-0.555;QD=16.62;ReadPosRankSum=-0.334;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,24:37:99:625,0,317	5	0	1	0
chr6	75134749	75134749	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.G2009A:p.R670Q,COL12A1:NM_004370:exon32:c.G5501A:p.R1834Q	Bethlem myopathy 2	427	1094	1	0	0	1	0.00045683	.	.	.	522137	Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2|not_provided	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.012993467692	0.0002	0.000199681	0.0003	0.0001	0.0013	0.0002	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs182768408	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0003	0.0011	0	0.0003	1.885e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.631e-05	0	0.0007	0	0.0002	0	0.0068	0.0002	0.0005	0	0.356	0.12592	T	0.237	0.27767	T	0.043	0.21573	B	0.007	0.12992	B	0.070429	0.21540	N	0.427942	1	0.08975	N	0.14	0.08730	N	0.63	0.53088	T	-0.33	0.12472	N	0.373	0.41459	-0.9852	0.33784	T	0.025	0.10821	T	10	0.011271119	0.00247	T	0.012993	0.32036	T	0.043	0.11576	.	.	0.187035705434	0.18338	0.4868259123386073	0.48602	0.141389581085	0.15943	0.312972575426	0.12356	T	0.00797	0.31612	T	-0.505273	0.00534	T	-0.539099	0.18385	T	0.0195343381003936	0.00657	T	0.89811	0.64401	D	0.023861703	0.01163	0.028938122	0.01178	0.023861703	0.01163	0.028938122	0.01178	-3.551	0.20969	T	0.10397440299484514	0.08080	0.079	0.08320	B	.;.;.;.;.	.;.;.;.;.	3.226967	0.43993	21.8	0.94732414246328023	0.25416	0.07461	0.13478	N	AEFBI	0.079997	0.16167	N	-0.991155232712783	0.08792	0.4135861	-0.869615287031499	0.12817	0.6615003	0.999925720922169	0.46280	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	3.18	0.35615	2.410000	0.44245	3.263000	0.37105	-0.180000	0.10397	0.339000	0.25666	0.996000	0.32793	0.969000	0.54022	0.0:0.6593:0.0:0.3407	8.900	0.34649	845	0.36510	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	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	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	789.83	34	chr6	75134749	.	C	T	789.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.204;DP=243;ExcessHet=0;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.474;SOR=0.374	GT:AD:DP:GQ:PL	0/1:38,34:72:99:800,0,956	5	0	1	0
chr6	84152708	84152708	T	G	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.A3238C:p.S1080R,CEP162:NM_014895:exon23:c.A3466C:p.S1156R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00728508070162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.487	0.11656	T	0.113	0.26349	B	0.037	0.23121	B	0.804541	0.06789	N	1.087340	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	-1.23	0.33598	N	0.193	0.25989	-0.9449	0.41830	T	0.014	0.05753	T	10	0.1229122	0.23325	T	0.007285	0.19307	T	0.026	0.05648	0.158	0.06178	0.0482279557977	0.04254	0.14281800754448878	0.14204	0.0226536047655	0.02288	0.247102752328	0.03469	T	0.020535	0.16154	T	-0.296381	0.09006	T	-0.663507	0.08032	T	0.0676487684249878	0.08318	T	0.737326	0.35372	T	0.09207325	0.21592	0.0910751	0.21393	0.09207325	0.21591	0.0910751	0.21393	-4.238	0.27298	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	1.226115	0.16205	12.39	0.77327836076152723	0.11830	0.21369	0.21377	N	AEFBI	0.125263	0.24169	N	-0.953952551814535	0.09604	0.4552653	-0.987017548675938	0.10076	0.5052437	1.15749270027658E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	-1.56	0.08080	0.598000	0.23774	0.678000	0.20656	0.663000	0.56723	0.216000	0.24491	0.000000	0.08366	0.025000	0.12405	0.0:0.6022:0.0:0.3978	12.033	0.52701	562	0.71143	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	980.83	34	chr6	84152708	.	T	G	980.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.228;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.986;SOR=0.628	GT:AD:DP:GQ:PL	0/1:28,38:66:99:991,0,686	5	0	1	0
chr6	98834883	98834883	G	A	exonic	POU3F2	.	nonsynonymous SNV	POU3F2:NM_005604:exon1:c.G10A:p.A4T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.218431281936	.	0.000399361	0.0007	0	0	0	0	0	0	0.0050	0.0005369	83	154602	rs201781902	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	6.002e-05	2.24e-05	0	0	0	0	0	0.0004	0.0046	0.0001	0.0001	7.711e-05	0.0002	0.0041	9.744e-05	8.258e-05	0.0027	0.0023	4.812e-05	0	0	0	0	0	0	0	0	0.0041	0.197	0.20607	T	0.277	0.21880	T	0.251	0.31212	B	0.006	0.12133	B	0.000198	0.48115	U	0.084010	0.984762	0.40190	D	0.92	0.23413	L	-2.82	0.91192	D	-0.91	0.24460	N	0.158	0.16447	-0.4387	0.70774	T	0.353	0.71635	T	10	0.0061026216	0.00137	T	0.218431	0.87658	D	0.309	0.63055	0.223	0.14665	0.818975432973	0.81726	0.6090459226266717	0.60836	.	.	0.863023757935	0.91556	D	0.120744	0.44321	T	-0.312148	0.07561	T	-0.220202	0.52718	T	0.093007280839195	0.11569	T	0.934906	0.75551	D	0.15597703	0.35224	0.20688348	0.44922	0.15597703	0.35223	0.20688348	0.44921	-4.076	0.24935	T	.	.	0.105	0.19154	B	.	.	4.150006	0.62247	24.4	0.98401749665532179	0.41073	0.74263	0.36327	D	ALL	0.110938	0.21981	N	-0.303528349103253	0.29014	1.605243	-0.23307678321224	0.30360	1.708658	0.999994844098296	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.06	3.06	0.34374	2.728000	0.46990	9.276000	0.79675	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1288:0.0:0.8712:0.0	7.892	0.28845	871	0.31377	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	282.83	33	chr6	98834883	.	G	A	282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.364;DP=201;ExcessHet=0;FS=3.622;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.232;SOR=1.609	GT:AD:DP:GQ:PL	0/1:16,12:28:99:293,0,436	5	0	1	0
chr6	110357998	110357998	G	C	exonic	METTL24	.	nonsynonymous SNV	METTL24:NM_001123364:exon1:c.C275G:p.P92R	.	450	1066	6	0	0	6	0.00280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0305144355037	.	0.000599042	0	0	0	0	0	0	0	0	0.0002689	7	26028	rs555527864	0.0008	0.0006	0.0008	0.0008	0.0017	0.0008	0.0007	0.0013	0.0011	0.0001	0.0003	0	0	5.794e-05	0.0011	0.0008	0.0008	0.0017	0.0004	0.0004	0.0005	0.0004	0.0015	0.0004	0.0003	0.0007	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0.0015	0.1	0.30515	T	0.205	0.27145	T	0.372	0.34134	B	0.154	0.34351	B	0.518797	0.11765	N	0.715503	0.950133	0.26514	N	0.805	0.20218	L	0.94	0.43672	T	-0.51	0.15986	N	0.109	0.09490	-1.0247	0.22181	T	0.037	0.15899	T	10	0.018948019	0.00417	T	0.030514	0.52811	D	0.043	0.11576	.	.	0.186928172975	0.18263	0.29992390401776264	0.29905	0.237689050953	0.26313	0.824627280235	0.85739	D	0.004463	0.03867	T	-0.499892	0.00572	T	-0.606406	0.12278	T	0.17248797416687	0.18748	T	0.381662	0.09243	T	0.050009925	0.08968	0.08205092	0.18695	0.050009925	0.08968	0.08205092	0.18694	-3.776	0.20446	T	.	.	0.065	0.02038	B	.	.	1.641128	0.20944	14.98	0.9536945482840864	0.26779	0.57480	0.30388	D	AEFDBHCI	0.067538	0.13282	N	-0.631812094607372	0.17994	0.9306531	-0.651026033125123	0.18190	0.9706715	0.998704153026539	0.37498	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.61	0.753	0.17552	-0.498000	0.06502	0.992000	0.23199	-0.320000	0.05874	0.167000	0.23894	0.927000	0.28453	0.909000	0.44452	0.2266:0.0:0.5758:0.1976	3.452	0.07070	775	0.48401	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	48.86	21	chr6	110357998	.	G	C	48.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.022;DP=103;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=0.992;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:59:59,0,115	5	0	1	0
chr6	112081199	112081199	C	A	exonic	TUBE1	.	nonsynonymous SNV	TUBE1:NM_016262:exon5:c.G219T:p.L73F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.0655411015563	.	0.000199681	8.272e-06	0	8.669e-05	0	0	0	0	0	1.29e-05	2	154602	rs200730464	8.44e-06	9.581e-06	7.018e-06	9.869e-06	4.575e-05	4.5e-06	3.56e-06	7.58e-06	2.84e-06	0	4.575e-05	0	0	0	0	8.32e-06	1.698e-05	0	1.315e-05	1.313e-05	1.286e-05	1.345e-05	6.545e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	6.545e-05	0	0	0	0	0	0	0	0.014	0.53172	D	0.011	0.64786	D	0.992	0.64738	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.805	0.47535	L	-0.69	0.72678	T	-3.11	0.63669	D	0.805	0.80083	-0.1663	0.78517	T	0.384	0.74024	T	10	0.75291926	0.75769	D	0.065541	0.69610	D	0.626	0.85563	0.717	0.85230	0.848825281127	0.84737	0.6555770499981919	0.65493	0.333532222954	0.35392	0.796778321266	0.81472	T	0.377916	0.74100	T	0.247446	0.78362	D	0.117663	0.78080	D	0.986359417438507	0.77094	D	0.966503	0.87759	D	0.48315352	0.66091	0.38047245	0.63079	0.48315352	0.66092	0.38047245	0.63079	-11.941	0.84562	D	.	.	0.575	0.67844	P	.	.	4.081138	0.60712	24.3	0.99901736954200093	0.97350	0.93368	0.58030	D	AEFBI	0.689974	0.65046	D	0.521043842082281	0.68337	5.203106	0.509132070493989	0.68602	5.242896	0.999404118107163	0.39524	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	4.96	0.65153	1.993000	0.40367	1.754000	0.28498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9315:0.0:0.0685	14.919	0.70471	696	0.58299	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	385.83	32	chr6	112081199	.	C	A	385.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.049;DP=217;ExcessHet=0;FS=4.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=1.05;SOR=0.25	GT:AD:DP:GQ:PL	0/1:26,19:45:99:396,0,778	5	0	1	0
chr6	118314152	118314152	C	A	exonic	SLC35F1	.	nonsynonymous SNV	SLC35F1:NM_001029858:exon8:c.C1127A:p.P376H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2338942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.00778263692364	0.0003	0.000199681	0.0006	9.61e-05	0.0010	0	0	0.0009	0.0011	0.0002	0.0005175	80	154602	rs141802559	0.0006	0.0006	0.0005	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0001	0.0009	0.0018	0	1.872e-05	0.0005	0.0006	0.0006	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0007	0.0020	0.0002	0	0.0034	0.0007	0.0019	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.905	0.49920	P	0.656	0.52685	P	0.000487	0.43931	D	0.195714	0.995537	0.42735	D	0.69	0.16971	N	.	.	.	-1.09	0.28290	N	0.41	0.46274	-0.8915	0.48802	T	0.147	0.47273	T	9	0.030665606	0.01195	T	0.007783	0.20642	T	0.142	0.37995	.	.	0.377274123778	0.37341	0.5196943832880454	0.51892	1.35157809382	0.84090	0.626753628254	0.56684	T	0.017094	0.14006	T	-0.321793	0.06752	T	-0.309124	0.43753	T	0.156244307756424	0.17590	T	0.808019	0.45805	T	0.22786006	0.45494	0.20672989	0.44899	0.22786006	0.45494	0.20672989	0.44898	-5.103	0.37939	T	.	.	0.133	0.28863	B	.;.	.;.	4.473027	0.69718	25.4	0.99461728822432471	0.65840	0.91049	0.52760	D	AEFI	0.440960	0.49931	N	0.353708503955724	0.58934	4.069038	0.395376440442431	0.61278	4.325854	0.999876443930036	0.44625	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.426000	0.59629	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:1.0:0.0:0.0	19.533	0.95230	764	0.49969	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1115.83	34	chr6	118314152	.	C	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.032;DP=297;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.984;SOR=0.675	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1126,0,1718	5	0	1	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	59.83	83	chr6	121447059	.	C	T	59.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.447;DP=318;ExcessHet=0;FS=22.498;MLEAC=1;MLEAF=0.083;MQ=57.02;MQRankSum=-0.774;QD=0.72;ReadPosRankSum=0;SOR=4.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:70:0|1:121447059_C_T:70,0,3052:121447059	5	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	60.7	86	chr6	121447061	.	A	G	60.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.904;DP=415;ExcessHet=0;FS=22.498;MLEAC=1;MLEAF=0.1;MQ=57.02;MQRankSum=-0.774;QD=0.73;ReadPosRankSum=-0.305;SOR=4.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:70:0|1:121447059_C_T:70,0,3052:121447059	4	0	1	1
chr6	121447063	121447063	C	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C216G:p.I72M	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.722767548319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	2.532e-05	4.093e-06	2.755e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.705e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.001142	0.40056	N	0.240936	1	0.81001	D	3.31	0.90591	M	-5.85	0.99402	D	-2.75	0.58407	D	0.797	0.79310	1.056	0.98248	D	0.985	0.99554	D	10	0.9695214	0.96513	D	0.722768	0.97760	D	0.854	0.95507	0.824	0.93592	0.976463472848	0.97621	0.9546582355619724	0.95450	1.38342801897	0.84833	0.786057114601	0.79844	T	0.965674	0.99588	D	0.397641	0.89779	D	0.333407	0.89651	D	0.986483871936798	0.77190	D	0.908009	0.67517	D	0.740348	0.80312	0.6526063	0.79669	0.740348	0.80313	0.6526063	0.79670	-9.012	0.67775	D	0.9259814856590484	0.96879	0.690	0.72528	P	.;.;.;.;.	.;.;.;.;.	3.844646	0.55656	23.6	0.99761649806460251	0.85091	0.92478	0.55805	D	AEFBCI	0.650822	0.62479	D	0.716717483120291	0.80726	7.359028	0.661243353982356	0.79450	7.085109	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	1.401000	0.34198	4.077000	0.41709	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	62.83	81	chr6	121447063	.	C	G	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.721;DP=365;ExcessHet=0;FS=22.621;MLEAC=1;MLEAF=0.083;MQ=57.02;MQRankSum=-0.743;QD=0.77;ReadPosRankSum=-0.198;SOR=4.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:73:0|1:121447059_C_T:73,0,3021:121447059	5	0	1	0
chr6	125889450	125889450	G	A	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199621:exon8:c.G1051A:p.A351T,NCOA7:NM_001122842:exon9:c.G1363A:p.A455T,NCOA7:NM_181782:exon9:c.G1396A:p.A466T,NCOA7:NM_001199619:exon10:c.G1396A:p.A466T,NCOA7:NM_001199620:exon11:c.G1396A:p.A466T	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00286975955899	0.0002	0.000199681	0.0003	0.0002	8.673e-05	0	0	0.0004	0.0011	0.0004	0.0003234	50	154602	rs149505195	0.0003	0.0003	0.0003	0.0003	0.0054	0.0003	0.0003	0.0039	0.0034	0.0003	0.0003	0	0	7.49e-05	0.0054	0.0003	0.0004	0.0004	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0001	0	0	0	0.0170	0.0003	0.0009	0.0010	0.292	0.14894	T	0.547	0.09522	T	0.003	0.11197	B	0.002	0.06944	B	0.050560	0.23060	N	0.455677	1	0.08975	N	1.2	0.30300	L	2.73	0.11839	T	-0.18	0.12847	N	0.03	0.00825	-0.9398	0.42648	T	0.011	0.04134	T	10	0.015536219	0.00326	T	0.00287	0.06044	T	0.008	0.00669	.	.	0.082315109003	0.07666	0.2051399256909472	0.20430	0.0859450684059	0.09713	0.246005982161	0.03359	T	0.008346	0.07671	T	-0.514585	0.00473	T	-0.636393	0.09935	T	0.00362349092029035	0.00038	T	0.69713	0.30670	T	0.016662547	0.00213	0.035369337	0.02775	0.016662547	0.00213	0.035369337	0.02775	-3.131	0.13063	T	.	.	0.068	0.15251	B	.;.;.	.;.;.	-0.194846	0.03116	0.497	0.81707823359704745	0.13820	0.05683	0.11601	N	ALL	0.046064	0.07608	N	-1.23178805035654	0.04545	0.2053654	-1.20442411756332	0.05838	0.2793248	0.999999999709965	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.691665	0.62940	0	0.825845	0.99933	0	.	.	5.28	1.47	0.21832	0.574000	0.23416	0.771000	0.21396	-0.113000	0.14837	0.005000	0.17040	0.000000	0.08366	0.040000	0.14268	0.216:0.0:0.536:0.248	5.205	0.14610	797	0.45241	.;.;.	.	.	.	.	.	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	0	0	0.003525	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	689.83	34	chr6	125889450	.	G	A	689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.052;DP=256;ExcessHet=0;FS=1.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.004;SOR=0.477	GT:AD:DP:GQ:PL	0/1:30,28:58:99:700,0,839	5	0	1	0
chr6	128089726	128089726	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon7:c.G1042A:p.E348K,PTPRK:NM_001135648:exon8:c.G1429A:p.E477K,PTPRK:NM_001291981:exon8:c.G1429A:p.E477K,PTPRK:NM_001291982:exon8:c.G1429A:p.E477K,PTPRK:NM_001291984:exon8:c.G1429A:p.E477K,PTPRK:NM_002844:exon8:c.G1429A:p.E477K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0550317864603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.65419	D	0.003	0.79402	D	0.785	0.90584	P	0.311	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.24	0.63355	M	0.54	0.54911	T	-3.21	0.64826	D	0.836	0.83885	-0.5533	0.66661	T	0.297	0.66801	T	10	0.6400481	0.69004	D	0.055032	0.66082	D	0.293	0.61272	0.39	0.41279	0.426936546926	0.42313	0.7329004032241517	0.73235	1.38852244081	0.84936	0.799007177353	0.81811	T	0.083194	0.59330	T	0.138088	0.68142	D	-0.0394224	0.67740	D	0.959181997050465	0.65467	D	.	.	.	0.49871716	0.67020	0.41079798	0.65330	0.49871716	0.67021	0.41079798	0.65330	-11.355	0.81700	D	.	.	0.628	0.75213	P	.;.;.;.;.;.	.;.;.;.;.;.	5.028470	0.83620	28.1	0.99934555696117278	0.99535	0.98957	0.89158	D	AEFBI	0.922185	0.89678	D	0.640970733744058	0.75784	6.367818	0.69677697030496	0.82131	7.692377	0.999999999084309	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.871000	0.85545	7.689000	0.65692	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.894	0.96941	694	0.58444	.;.;.;Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	995.83	39	chr6	128089726	.	C	T	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=239;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=1.1;SOR=1.022	GT:AD:DP:GQ:PL	0/1:24,34:58:99:1006,0,605	5	0	1	0
chr6	142402658	142402658	A	G	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon12:c.A1699G:p.T567A,ADGRG6:NM_001032395:exon12:c.A1699G:p.T567A,ADGRG6:NM_020455:exon13:c.A1783G:p.T595A,ADGRG6:NM_198569:exon13:c.A1783G:p.T595A	Lethal congenital contracture syndrome 9, Autosomal recessive	443	1078	1	0	0	1	0.000463607	.	.	.	795759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0227045308331	0.0005	0.000599042	0.0008	0	0	0	0.0022	0.0008	0	0.0015	0.0004851	75	154602	rs193295605	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	5.998e-05	2.262e-05	0	0	0.0024	0.0003	0.0006	0.0008	0.0009	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	7.215e-05	0	6.542e-05	0	0	0.0016	0	0.0007	0.0005	0.0006	0.04	0.49613	D	.	.	.	0.989	0.66517	D	0.849	0.66279	P	0.000003	0.62929	D	0.000000	0.995461	0.42703	D	.	.	.	1.48	0.32958	T	-1.44	0.35399	N	0.592	0.70439	-0.9335	0.43620	T	0.132	0.44366	T	10	0.03447181	0.01657	T	0.022705	0.45623	T	0.197	0.47942	.	.	0.418095516054	0.41424	0.7861913320537105	0.78571	0.553608707389	0.52127	0.506709575653	0.39763	T	0.279838	0.65253	T	-0.196394	0.21325	T	-0.105323	0.62982	T	0.144040261009384	0.16618	T	0.865913	0.56597	D	0.30111846	0.53005	0.13283588	0.31867	0.17585097	0.38466	0.16342546	0.37910	-6.519	0.51750	T	.	.	0.351	0.65230	A	.;.;.;.	.;.;.;.	3.723043	0.53211	23.3	0.99617491972223815	0.75233	0.98369	0.82077	D	AEBI	0.655618	0.62789	D	0.597343306507141	0.73009	5.896482	0.545196684102909	0.71063	5.598237	0.999998923248225	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.66	5.66	0.87293	6.137000	0.71462	9.248000	0.79469	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	15.906	0.79213	709	0.56835	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1268.83	33	chr6	142402658	.	A	G	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.185;SOR=0.732	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1279,0,1227	5	0	1	0
chr6	150021019	150021019	C	T	exonic	RAET1L	.	nonsynonymous SNV	RAET1L:NM_130900:exon3:c.G517A:p.E173K	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00172519237424	0.0072	0.00319489	0.0052	0.0016	0.0014	0	0.0029	0.0077	0.0011	0.0037	0.0054268	839	154602	rs148198102	0.0081	0.0081	0.0083	0.0078	0.0093	0.0080	0.0079	0.0092	0.0091	0.0010	0.0021	0.0123	5.038e-05	0.0030	0.0017	0.0093	0.0084	0.0037	0.0048	0.0048	0.0056	0.0039	0.0077	0.0045	0.0044	0.0072	0.0070	0.0018	0	0.0022	0.0124	0.0002	0.0021	0	0.0077	0.0033	0.0050	0.003	0.68238	D	0.004	0.74150	D	0.983	0.60381	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	.	.	.	2.98	0.09356	T	-3.33	0.66206	D	0.168	0.17828	-1.0707	0.09260	T	0.026	0.11087	T	9	0.00672698	0.00153	T	0.001725	0.02882	T	0.043	0.11576	.	.	0.254244900254	0.25046	0.23325492473537512	0.23240	0.192957473328	0.21626	0.316740572453	0.12927	T	0.01837	0.14822	T	-0.620221	0.00110	T	-0.65265	0.08769	T	0.0207443749061396	0.00774	T	0.920908	0.71352	D	0.310507	0.53830	0.34226173	0.59955	0.310507	0.53830	0.34226173	0.59954	-6.86	0.53004	T	.	.	0.196	0.41798	B	.;.	.;.	1.899746	0.24129	16.28	0.99206706091487862	0.55442	0.00753	0.03128	N	AEFI	0.023743	0.01365	N	-0.367198781803063	0.26644	1.455756	-0.681990130928375	0.17411	0.9256887	1.15833776898731E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.91	-0.0121	0.13314	-0.062000	0.11631	-4.266000	0.02248	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.6012:0.0:0.3988	4.177	0.09818	299	0.88026	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.001511	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	2446.83	163	chr6	150021019	.	C	T	2446.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=707;ExcessHet=0;FS=4.791;MLEAC=1;MLEAF=0.083;MQ=59.93;MQRankSum=0;QD=11.71;ReadPosRankSum=0.547;SOR=0.671	GT:AD:DP:GQ:PL	0/1:118,91:209:99:2457,0,3041	5	0	1	0
chr6	160586587	160586587	G	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon25:c.C3991A:p.R1331S	.	1	1518	3	0	0	3	0.000987167	.	.	.	2828110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.193	0.00849922304771	0.0018	0.000599042	0.0017	0.0005	0.0023	0	0.0003	0.0024	0.0044	0	0.0017141	265	154602	rs147936725	0.0022	0.0022	0.0022	0.0022	0.0027	0.0021	0.0021	0.0026	0.0026	0.0003	0.0022	7.657e-05	0	0.0004	0.0009	0.0027	0.0015	4.637e-05	0.0018	0.0018	0.0017	0.0019	0.0040	0.0016	0.0016	0.0032	0.0029	0.0008	0	0.0040	0	0	0	0	0.0026	0.0009	0	0.443	0.09182	T	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	-0.73	0.20576	N	0.047	0.01911	-0.9639	0.38428	T	0.121	0.42079	T	9	0.017247856	0.00367	T	0.008499	0.22482	T	0.193	0.47281	.	.	0.0611884634855	0.05136	0.5740356840002586	0.57332	0.103582890826	0.11719	0.515439510345	0.40985	T	.	.	.	-0.623658	0.00104	T	-0.667665	0.07759	T	0.0321944707182085	0.02337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.80694	P	.;.	.;.	-0.422607	0.02129	0.203	0.68488824179843077	0.08674	0.00307	0.01628	N	AEFDI	0.064092	0.12424	N	-0.763556516131837	0.14267	0.7093302	-1.07229981305319	0.08249	0.4047467	0.0014357831446104	0.08535	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	-5.12	0.02674	-2.620000	0.00952	-20.000000	0.00162	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3933:0.1726:0.4341	6.228	0.19931	889	0.27310	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2115.83	36	chr6	160586587	.	G	T	2115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=343;ExcessHet=0;FS=4.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.055;SOR=1.08	GT:AD:DP:GQ:PL	0/1:73,81:154:99:2126,0,1989	5	0	1	0
chr6	160633809	160633809	-	GCTT	exonic	LPA	.	frameshift insertion	LPA:NM_005577:exon8:c.1178_1179insAAGC:p.W394Sfs*11	.	25	1478	19	0	0	19	0.00638655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0009	0.0008	0	0.0004	0.0039	0.0032	0.0001	0.0006662	103	154602	rs762351463	0.0008	0.0027	0.0008	0.0008	0.0016	0.0007	0.0007	0.0009	0.0009	0	0.0002	0.0004	0	4.749e-05	0.0016	0.0010	0.0006	0	0.0008	0.0022	0.0010	0.0006	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0007	0.0012	0	0	0.0054	0.0013	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	633.79	36	chr6	160633809	.	A	AGCTT	633.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.293;DP=492;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.083;MQ=34.83;MQRankSum=-0.209;QD=1.91;ReadPosRankSum=0.057;SOR=0.702	GT:AD:DP:GQ:PL	0/1:295,37:332:99:644,0,12244	5	0	1	0
chr6	160731053	160731053	G	A	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon11:c.G1259A:p.G420D	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	2	1499	20	1	0	22	0.00728477	.	.	.	721862	Plasminogen_deficiency,_type_I|Angioedema,_hereditary,_4|not_provided|not_specified|PLG-related_disorder	MONDO:MONDO:0009009,MedGen:C1968804,OMIM:217090,Orphanet:722|MONDO:MONDO:0025712,MedGen:C5543503,OMIM:619360|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0130933545777	0.0015	0.000798722	0.0019	0.0006	0.0022	0	0.0003	0.0028	0.0022	0.0004	0.0018693	289	154602	rs139071351	0.0024	0.0024	0.0024	0.0023	0.0054	0.0023	0.0023	0.0039	0.0034	0.0006	0.0015	0.0052	0	0.0003	0.0054	0.0026	0.0028	0.0009	0.0018	0.0018	0.0020	0.0016	0.0028	0.0017	0.0016	0.0025	0.0024	0.0006	0	0.0014	0.0055	0	0.0007	0.0068	0.0028	0.0052	0.0006	0.872	0.02594	T	1.0	0.01155	T	0.035	0.20614	B	0.107	0.31211	B	0.178306	0.17173	N	0.410936	1	0.08975	N	0.64	0.16041	N	-0.18	0.65747	T	-0.39	0.13611	N	0.072	0.04547	-0.9163	0.46050	T	0.058	0.24465	T	10	0.01172924	0.00255	T	0.013093	0.32217	T	0.236	0.53931	.	.	0.450733807028	0.44697	0.6920846132018005	0.69148	0.291264107057	0.31533	0.384721755981	0.22923	T	0.08321	0.37003	T	-0.55329	0.00279	T	-0.571217	0.15337	T	0.00293976838002257	0.00031	T	0.727127	0.34152	T	0.17778583	0.38763	0.1150387	0.27769	0.17778583	0.38763	0.1150387	0.27768	-4.054	0.24609	T	0.1016413119542937	0.07635	0.073	0.04477	B	.	.	-0.522332	0.01796	0.139	0.67395102283672681	0.08342	0.02844	0.07597	N	ALL	0.577191	0.57889	D	-1.31449162864766	0.03508	0.1568487	-1.36706235653217	0.03609	0.1686872	0.990549622000207	0.32188	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.11	-2.13	0.06745	0.034000	0.13663	-0.051000	0.12545	-0.378000	0.05405	0.031000	0.20493	0.000000	0.08366	0.308000	0.24690	0.7148:0.0:0.2852:0.0	11.49	0.49623	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	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	0.001521	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.003846	0.08333	556.83	38	chr6	160731053	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.925;DP=237;ExcessHet=0;FS=4.015;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.106;SOR=0.273	GT:AD:DP:GQ:PL	0/1:34,23:57:99:567,0,1029	5	0	1	0
chr6	160731787	160731787	C	T	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon12:c.C1481T:p.A494V	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	679945	Otitis_media,_susceptibility_to|not_provided	MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	.	0.0085	0.00898562	0.0082	0.0153	0.0310	0.0007	0	0.0067	0.0154	0.0002	0.007943	1228	154602	rs4252128	0.0048	0.0048	0.0049	0.0047	0.0294	0.0047	0.0046	0.0281	0.0275	0.0161	0.0294	0.0588	0.0013	3.744e-05	0.0274	0.0024	0.0121	0.0004	0.0097	0.0097	0.0099	0.0095	0.0189	0.0093	0.0091	0.0171	0.0164	0.0165	0	0.0189	0.0606	0.0015	0	0.0442	0.0035	0.0147	0.0012	0.014	0.53172	D	0.301	0.20293	T	0.992	0.64738	D	0.928	0.66279	D	0.051001	0.23021	U	0.204869	0.871976	0.28192	N	2.835	0.82492	M	-0.05	0.63403	T	-2.38	0.52451	N	0.319	0.35938	-0.5027	0.68553	T	0.354	0.71735	T	10	0.006421864	0.00145	T	.	.	.	0.281	0.59861	.	.	0.879256654498	0.87807	0.9470999344416133	0.94692	0.764815853878	0.64440	0.386979937553	0.23243	T	0.170333	0.51804	T	-0.462974	0.00942	T	-0.415494	0.31594	T	0.0510961458304338	0.05691	T	0.865613	0.56501	D	0.40057975	0.60773	0.28265077	0.54254	0.40057975	0.60773	0.28265077	0.54253	-9.693	0.72053	D	0.09881414717756476	0.07107	0.330	0.55194	B	.	.	3.859389	0.55956	23.7	0.99877461595648165	0.95410	0.77636	0.38195	D	AEFBI	0.941528	0.94492	D	0.442024568810016	0.63752	4.615072	0.261246359392058	0.53291	3.498781	0.999588408453391	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	5.708000	0.68030	4.639000	0.44147	0.449000	0.21268	0.995000	0.38783	1.000000	0.68203	0.002000	0.04165	0.0:1.0:0.0:0.0	12.491	0.55240	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	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	0.045821	0.111111	0.051630	0.020468	0.000000	0.025862	0.027439	0.018939	0.08333	861.83	38	chr6	160731787	.	C	T	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.992;DP=245;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.289;SOR=0.505	GT:AD:DP:GQ:PL	0/1:31,35:66:99:872,0,799	5	0	1	0
chr6	165392781	165392781	C	A	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon16:c.G1521T:p.K507N,PDE10A:NM_001385079:exon16:c.G2319T:p.K773N,PDE10A:NM_006661:exon17:c.G1491T:p.K497N	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0416252036857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229026933	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.015	0.17086	B	0.009	0.14300	B	0.000002	0.62929	D	0.130364	0.99927	0.46519	D	1.95	0.52479	M	-1.16	0.78082	T	-4.87	0.81269	D	.	.	-0.7638	0.57198	T	0.182	0.52904	T	10	0.29654253	0.47218	T	0.041625	0.60030	D	0.196	0.47777	0.55	0.66576	0.648415186659	0.64550	0.9004474980275059	0.90016	1.10781785835	0.77950	0.740118801594	0.72990	T	0.013296	0.50957	T	-0.0913658	0.37851	T	-0.272163	0.47600	T	0.355610907077789	0.27238	T	0.969103	0.88867	D	0.4635326	0.64890	0.15367876	0.36103	0.4635326	0.64891	0.15367876	0.36102	-5.854	0.45042	T	.	.	0.847	0.79626	P	.;.;.;.;.;.	.;.;.;.;.;.	3.545825	0.49816	22.8	0.99428695923094956	0.64130	0.88030	0.47783	D	AEFBI	0.502752	0.53503	D	-0.132856687249546	0.35966	2.072741	-0.0328643312560443	0.38241	2.250152	5.58965143579051E-4	0.07304	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.43	3.24	0.36257	1.307000	0.33121	0.111000	0.14782	0.549000	0.26987	0.996000	0.39380	0.003000	0.18671	0.998000	0.85391	0.0:0.6172:0.0:0.3828	7.351	0.25866	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1039.83	40	chr6	165392781	.	C	A	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.762;DP=255;ExcessHet=0;FS=3.164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.901;SOR=1.127	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1050,0,830	5	0	1	0
chr7	195687	195687	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G739A:p.E247K	Raine syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	425745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0880899506735	0.0002	0.000599042	0.0004	0.0001	8.66e-05	0	0.0002	0.0001	0	0.0021	0.0003169	49	154602	rs374098657	0.0001	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	8.976e-05	6.731e-05	3.833e-05	2.528e-05	3.812e-05	0.0002	2.701e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.696e-05	0.0014	0.0011	0.0001	0	0.0002	0	0	9.416e-05	0	4.41e-05	0	0.0025	0.238	0.17821	T	0.284	0.21411	T	0.226	0.30455	B	0.026	0.20792	B	0.023599	0.26414	N	0.228496	0.55817	0.31279	N	.	.	.	-1.02	0.76300	T	-1.99	0.45949	N	0.364	0.40565	-0.4596	0.70081	T	0.301	0.67195	T	10	0.017036289	0.00362	T	0.08809	0.75065	D	0.242	0.54781	.	.	0.215239754934	0.21150	0.43518058081431044	0.43435	0.550286484915	0.51898	0.433739870787	0.29721	T	0.00691	0.06335	T	-0.392971	0.02574	T	-0.356267	0.38486	T	0.0316362716257572	0.02247	T	0.910309	0.68205	D	0.15260598	0.34633	0.104235	0.25030	0.15260598	0.34633	0.104235	0.25029	-10.487	0.76772	D	.	.	0.081	0.08224	B	.	.	3.238080	0.44185	21.9	0.98816681608441526	0.46704	0.87131	0.46579	D	AEFDBCI	0.620358	0.60545	D	-0.241857553892081	0.31430	1.76226	-0.191720203428999	0.31840	1.805702	0.999999999642179	0.74766	0.706548	0.73137	0	0.578056	0.33634	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	3.291000	0.51470	6.528000	0.55850	0.674000	0.70861	0.915000	0.31815	1.000000	0.68203	0.049000	0.15107	0.084:0.0:0.916:0.0	12.352	0.54484	988	0.01987	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	510.83	35	chr7	195687	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.515;DP=251;ExcessHet=0;FS=0.915;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.31;ReadPosRankSum=0.025;SOR=0.899	GT:AD:DP:GQ:PL	0/1:55,26:81:99:521,0,1458	5	0	1	0
chr7	852813	852813	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001171944:exon7:c.G605A:p.G202D,SUN1:NM_001367708:exon8:c.G347A:p.G116D,SUN1:NM_025154:exon8:c.G665A:p.G222D,SUN1:NM_001130965:exon9:c.G914A:p.G305D,SUN1:NM_001367639:exon9:c.G455A:p.G152D,SUN1:NM_001367648:exon9:c.G776A:p.G259D,SUN1:NM_001367660:exon9:c.G764A:p.G255D,SUN1:NM_001367662:exon9:c.G761A:p.G254D,SUN1:NM_001367670:exon9:c.G764A:p.G255D,SUN1:NM_001367671:exon9:c.G761A:p.G254D,SUN1:NM_001367686:exon9:c.G746A:p.G249D,SUN1:NM_001367633:exon10:c.G914A:p.G305D,SUN1:NM_001367642:exon10:c.G899A:p.G300D,SUN1:NM_001367644:exon10:c.G845A:p.G282D,SUN1:NM_001367645:exon10:c.G875A:p.G292D,SUN1:NM_001367653:exon10:c.G914A:p.G305D,SUN1:NM_001367665:exon10:c.G911A:p.G304D,SUN1:NM_001367667:exon10:c.G875A:p.G292D,SUN1:NM_001367669:exon10:c.G941A:p.G314D,SUN1:NM_001367672:exon10:c.G914A:p.G305D,SUN1:NM_001367679:exon10:c.G872A:p.G291D,SUN1:NM_001367680:exon10:c.G848A:p.G283D,SUN1:NM_001367681:exon10:c.G962A:p.G321D,SUN1:NM_001367689:exon10:c.G875A:p.G292D,SUN1:NM_001367694:exon10:c.G911A:p.G304D,SUN1:NM_001367695:exon10:c.G836A:p.G279D,SUN1:NM_001367701:exon10:c.G848A:p.G283D,SUN1:NM_001367702:exon10:c.G926A:p.G309D,SUN1:NM_001367704:exon10:c.G926A:p.G309D,SUN1:NM_001367634:exon11:c.G914A:p.G305D,SUN1:NM_001367635:exon11:c.G563A:p.G188D,SUN1:NM_001367638:exon11:c.G1022A:p.G341D,SUN1:NM_001367640:exon11:c.G1094A:p.G365D,SUN1:NM_001367646:exon11:c.G1043A:p.G348D,SUN1:NM_001367647:exon11:c.G956A:p.G319D,SUN1:NM_001367649:exon11:c.G959A:p.G320D,SUN1:NM_001367664:exon11:c.G1025A:p.G342D,SUN1:NM_001367668:exon11:c.G956A:p.G319D,SUN1:NM_001367673:exon11:c.G1046A:p.G349D,SUN1:NM_001367674:exon11:c.G1112A:p.G371D,SUN1:NM_001367675:exon11:c.G1097A:p.G366D,SUN1:NM_001367676:exon11:c.G1097A:p.G366D,SUN1:NM_001367683:exon11:c.G998A:p.G333D,SUN1:NM_001367684:exon11:c.G1073A:p.G358D,SUN1:NM_001367685:exon11:c.G1025A:p.G342D,SUN1:NM_001367688:exon11:c.G995A:p.G332D,SUN1:NM_001367696:exon11:c.G1025A:p.G342D,SUN1:NM_001367700:exon11:c.G1124A:p.G375D,SUN1:NM_001367706:exon11:c.G1046A:p.G349D,SUN1:NM_001367636:exon12:c.G1154A:p.G385D,SUN1:NM_001367641:exon12:c.G1196A:p.G399D,SUN1:NM_001367643:exon12:c.G1106A:p.G369D,SUN1:NM_001367651:exon12:c.G1328A:p.G443D,SUN1:NM_001367655:exon12:c.G1157A:p.G386D,SUN1:NM_001367666:exon12:c.G1157A:p.G386D,SUN1:NM_001367677:exon12:c.G1220A:p.G407D,SUN1:NM_001367682:exon12:c.G1196A:p.G399D,SUN1:NM_001367690:exon12:c.G1205A:p.G402D,SUN1:NM_001367691:exon12:c.G1154A:p.G385D,SUN1:NM_001367692:exon12:c.G1223A:p.G408D,SUN1:NM_001367693:exon12:c.G1109A:p.G370D,SUN1:NM_001367697:exon12:c.G1109A:p.G370D,SUN1:NM_001367698:exon12:c.G1193A:p.G398D,SUN1:NM_001367678:exon13:c.G1304A:p.G435D,SUN1:NM_001367687:exon13:c.G1304A:p.G435D,SUN1:NM_001367699:exon13:c.G1304A:p.G435D,SUN1:NM_001367703:exon13:c.G1307A:p.G436D,SUN1:NM_001367705:exon13:c.G1307A:p.G436D	.	431	1088	3	0	0	3	0.00137678	.	.	.	1363527	Emery-Dreifuss_muscular_dystrophy	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0129529059266	.	.	2.487e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs781390393	3.424e-06	4.104e-06	1.362e-06	5.509e-06	4.647e-05	1e-06	7.3e-07	1.585e-05	9.31e-06	0	0	0	0	0	0	9.002e-07	0	4.647e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.65419	T	0.025	0.67890	D	1.0	0.90584	D	0.993	0.81110	D	0.004268	0.33923	N	0.365001	0.999996	0.08975	N	.	.	.	2.05	0.26885	T	-4.75	0.84035	D	0.871	0.86833	-1.0379	0.17954	T	0.115	0.40853	T	10	0.35424358	0.52212	T	0.012953	0.31963	T	0.162	0.41843	.	.	0.431114715335	0.42728	0.7620975714698097	0.76157	0.436034313164	0.43706	0.372851073742	0.21240	T	0.311356	0.68325	T	-0.109875	0.34789	T	-0.192004	0.55401	T	0.855277955532074	0.50626	D	0.776522	0.45053	T	.	.	.	.	.	.	.	.	-14.533	0.94660	D	.	.	0.770	0.75913	P	.;.;.;.;.;.	.;.;.;.;.;.	3.220461	0.43878	21.8	0.99689114061869688	0.79775	0.83781	0.42877	D	AEFGBI	0.305053	0.41258	N	0.184608472665149	0.50461	3.235798	0.0767542807877799	0.43383	2.641126	0.679719719569011	0.22465	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.52	0.54797	3.833000	0.55492	5.820000	0.50076	0.676000	0.76740	0.887000	0.31133	1.000000	0.68203	0.505000	0.29129	0.0841:0.0:0.9159:0.0	11.691	0.50778	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	988.83	36	chr7	852813	.	G	A	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.295;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-1.114;SOR=0.738	GT:AD:DP:GQ:PL	0/1:22,36:58:99:999,0,622	5	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.08333	778.83	44	chr7	1434651	.	T	G	778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.968;DP=272;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.111;SOR=0.569	GT:AD:DP:GQ:PL	0/1:43,35:78:99:789,0,1063	5	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.25	2089.03	62	chr7	1440649	.	C	T	2089.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.54;DP=272;ExcessHet=1.383;FS=0.585;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.332;SOR=0.635	GT:AD:DP:GQ:PL	0/1:24,15:39:99:392,0,574	3	0	3	0
chr7	3967322	3967322	C	G	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon10:c.C1434G:p.I478M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00199681	0.0012	0	8.637e-05	0	0	0	0	0.0087	0.001022	158	154602	rs527487069	0.0005	0.0005	0.0003	0.0007	0.0083	0.0005	0.0005	0.0078	0.0076	0	0	0	0	0	0.0005	2.703e-06	0.0004	0.0083	0.0003	0.0003	0.0002	0.0004	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.137	0.26085	T	0.184	0.29153	T	0.028	0.19712	B	0.009	0.14300	B	0.040637	0.24037	N	0.371038	0.999994	0.08975	N	0.825	0.20901	L	-3.9	0.96015	D	-0.75	0.21003	N	0.374	0.41557	-0.5785	0.65676	T	0.502	0.81218	D	10	0.007853299	0.00178	T	.	.	.	0.273	0.58883	0.436	0.48828	0.343101102393	0.33919	0.4438150469648736	0.44299	0.0787918062119	0.08867	0.285283118486	0.08240	T	0.028614	0.20688	T	-0.338614	0.05485	T	-0.252349	0.49585	T	0.0539649895247358	0.06183	T	0.883612	0.60617	D	0.073734656	0.16497	0.049960468	0.07742	0.073734656	0.16497	0.049960468	0.07742	-6.221	0.48093	T	.	.	0.091	0.20078	B	.;.;.	.;.;.	-1.760669	0.00171	0.003	0.86319561071092799	0.16457	0.03770	0.09084	N	AEFGBI	0.074032	0.14827	N	-1.72158043511646	0.00768	0.03317358	-1.82966906176687	0.00669	0.02974827	0.999999999888175	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.65	-11.3	0.00084	-1.520000	0.02345	-7.789000	0.01086	-0.827000	0.02907	0.005000	0.17040	0.000000	0.08366	0.444000	0.27761	0.078:0.3921:0.2027:0.3271	4.447	0.11026	912	0.21483	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1445.83	35	chr7	3967322	.	C	G	1445.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.039;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1456,0,1297	5	0	1	0
chr7	6154192	6154192	G	C	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon15:c.G2638C:p.A880P,USP42:NM_032172:exon15:c.G2638C:p.A880P	.	.	.	.	.	.	.	.	.	.	.	2339847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0244403867907	0.0002	.	0.0002	0	9.081e-05	0	0	0.0004	0	0	0.0001617	25	154602	rs201567953	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	4.513e-05	0.0051	0	0	0.0007	4.061e-05	0.0005	0	0.0001	0.0001	0.0001	0.0002	4.411e-05	9.743e-05	8.257e-05	1.171e-05	6.25e-06	2.411e-05	0	0	0.0049	0	0	0	4.411e-05	0.0005	0	0.036	0.43393	D	0.289	0.21078	T	0.167	0.28604	B	0.049	0.25116	B	0.852015	0.08956	N	0.938103	1	0.08975	N	0	0.06538	N	0.66	0.52416	T	-1.3	0.32590	N	0.082	0.05799	-1.0435	0.16265	T	0.047	0.20275	T	10	0.0061540008	0.00138	T	0.02444	0.47428	T	0.046	0.12618	.	.	0.123314135267	0.11883	0.18753117934340424	0.18671	0.0759444557685	0.08528	0.299917459488	0.10389	T	0.017832	0.14480	T	-0.369372	0.03626	T	-0.572719	0.15202	T	0.0213835445808508	0.00841	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	-3.407	0.15150	T	.	.	0.067	0.03736	B	.;.	.;.	0.334457	0.07081	3.654	0.93666214687309857	0.23558	0.03385	0.08491	N	AEFDBCI	0.044032	0.07036	N	-1.58986058654798	0.01316	0.05730841	-1.65718021301302	0.01339	0.06045008	0.287161897738172	0.19048	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	4.22	-5.1	0.02691	-0.411000	0.07205	.	.	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1125:0.0846:0.5064:0.2965	4.380	0.10721	613	0.66686	.;.	.	.	.	.	.	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	0	0	0.001010	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	659.83	38	chr7	6154192	.	G	C	659.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.693;DP=223;ExcessHet=0;FS=2.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.39;SOR=0.34	GT:AD:DP:GQ:PL	0/1:15,24:39:99:670,0,429	5	0	1	0
chr7	7969649	7969649	C	T	exonic	GLCCI1	.	nonsynonymous SNV	GLCCI1:NM_138426:exon1:c.C299T:p.A100V	.	544	956	18	4	0	26	0.0134159	.	.	.	2828319	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0686408083084	.	0.00179712	0	.	.	.	.	.	.	.	0.0016136	42	26028	rs545986371	0.0052	0.0038	0.0051	0.0052	0.0133	0.0050	0.0050	0.0091	0.0077	0.0006	0.0027	0.0035	0	0.0016	0.0133	0.0052	0.0057	0.0064	0.0042	0.0041	0.0045	0.0039	0.0093	0.0039	0.0038	0.0072	0.0064	0.0014	0	0.0037	0.0035	0	0.0033	0	0.0062	0.0044	0.0093	0.098	0.30800	T	0.12	0.35970	T	0.133	0.27236	B	0.037	0.23121	B	0.575456	0.11196	U	0.753024	0.999998	0.08975	N	0.55	0.14455	N	.	.	.	-1.04	0.27259	N	0.07	0.04307	-1.0273	0.21331	T	0.065	0.26878	T	9	0.0012222826	0.00013	T	0.068641	0.70508	D	0.029	0.06676	.	.	.	.	0.36313711105675534	0.36227	0.704620403043	0.61339	0.869236528873	0.92459	D	0.028456	0.20609	T	-0.6065	0.00133	T	-0.643018	0.09451	T	0.100193137873478	0.12378	T	0.50295	0.15803	T	0.041186877	0.06020	0.051433187	0.08275	0.041186877	0.06020	0.051433187	0.08274	-5.935	0.45733	T	.	.	0.101	0.17742	B	.	.	2.708300	0.35391	19.89	0.99231310907088921	0.56214	0.01392	0.04728	N	AEFDBHCI	0.043369	0.06847	N	-0.665260610469291	0.17017	0.8721214	-0.651388387608389	0.18181	0.9701436	0.999999978869478	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.231153	0.04653	2	0.554799	0.18163	0	.	.	2.7	0.63	0.16865	0.191000	0.16883	2.136000	0.30812	0.464000	0.21668	0.230000	0.24643	1.000000	0.68203	0.956000	0.50813	0.0:0.3585:0.4875:0.154	4.584	0.11666	924	0.18029	.	.	.	.	.	.	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	1	0	0.010989	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.062500	0.1	63.85	21	chr7	7969649	.	C	T	63.85	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.524;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:73,0,34	4	0	1	1
chr7	16600937	16600937	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1150T:p.L384F	.	427	1087	8	0	0	8	0.00366636	.	.	.	2385510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0136870305644	.	.	8.452e-05	0	0	0.0002	0	4.564e-05	0	0.0003	7.12e-05	11	154602	rs201863855	6.088e-05	6.293e-05	5.135e-05	7.057e-05	0.0016	4.995e-05	4.666e-05	0.0008	0.0006	0	2.566e-05	0.0003	5.125e-05	0	0.0016	2.648e-05	0.0001	0.0004	4.603e-05	4.598e-05	2.571e-05	6.732e-05	0.0006	2.111e-05	1.528e-05	0.0002	9.003e-05	0	0	0	0.0006	0	0	0	1.47e-05	0.0005	0.0006	0.14	0.25664	T	0.088	0.40586	T	0.214	0.30086	B	0.07	0.27859	B	0.444346	0.04778	N	1.303420	0.999902	0.19694	N	1.245	0.31408	L	-0.58	0.71425	T	-1.62	0.38924	N	0.08	0.05542	-0.9400	0.42616	T	0.190	0.54198	T	10	0.040706664	0.02663	T	0.013687	0.33283	T	0.103	0.29403	0.089	0.00982	0.627878856413	0.62484	0.11700394179336271	0.11628	0.068787038064	0.07702	0.300751328468	0.10512	T	0.013161	0.11438	T	-0.357304	0.04284	T	-0.450695	0.27620	T	0.021150966567398	0.00817	T	0.679032	0.28770	T	0.04604887	0.07641	0.06541775	0.13256	0.04604887	0.07640	0.06541775	0.13256	-6.442	0.49836	T	.	.	0.071	0.03887	B	.	.	1.691972	0.21554	15.25	0.98852641643805272	0.47322	0.11201	0.16476	N	AEFBI	0.063998	0.12402	N	-0.687944334588868	0.16364	0.8330771	-0.669170788666536	0.17734	0.9442391	0.00325566253908062	0.10018	0.706548	0.73137	0	0.627178	0.54094	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	1.56	0.22423	1.331000	0.33398	1.256000	0.25200	0.676000	0.76740	0.218000	0.24513	0.001000	0.17328	0.894000	0.43146	0.1664:0.297:0.5366:0.0	5.925	0.18339	939	0.14249	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	705.83	41	chr7	16600937	.	G	A	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.782;DP=234;ExcessHet=0;FS=8.257;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.616;SOR=0.171	GT:AD:DP:GQ:PL	0/1:26,29:55:99:716,0,733	5	0	1	0
chr7	37850628	37850628	G	A	splicing	NME8	NM_016616:exon5:c.92-1G>A	.	.	Ciliary dyskinesia, primary, 6, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400809471	1.382e-06	2.052e-06	2.754e-06	0	5.046e-05	2.3e-07	9e-08	8.36e-06	3.13e-06	0	0	0	5.046e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500301	0.94294	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.763939	0.93445	33	0.99490553319530195	0.67403	0.96163	0.67822	D	AEFBI	.	.	.	1.10831221323337	0.98285	17.87328	0.947137568967406	0.97317	15.92928	0.998414618167551	0.36924	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.987656	0.96192	5.01	5.01	0.66477	7.303000	0.78192	11.692000	0.94371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.435	0.87443	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	579.83	38	chr7	37850628	.	G	A	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.075;DP=225;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.48;SOR=0.91	GT:AD:DP:GQ:PL	0/1:27,23:50:99:590,0,814	5	0	1	0
chr7	39339680	39339680	-	A	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.637_638insA:p.L213Hfs*94,POU6F2:NM_001166018:exon6:c.550_551insA:p.L184Hfs*94,POU6F2:NM_007252:exon6:c.550_551insA:p.L184Hfs*94	.	1	1503	15	0	3	18	0.00496524	.	.	.	4008052	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0018	0.0002	0.0038	0.0033	0.0004398	68	154602	rs766603583	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0008	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1174.79	35	chr7	39339680	.	C	CA	1174.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=275;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=2.32;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,33:96:99:0|1:39339680_C_CA:1185,0,2546:39339680	5	0	1	0
chr7	39339681	39339681	T	G	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T638G:p.L213R,POU6F2:NM_001166018:exon6:c.T551G:p.L184R,POU6F2:NM_007252:exon6:c.T551G:p.L184R	.	1	1503	14	1	3	19	0.00529451	.	.	.	722503	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0745331248071	.	.	0.0006	0	0	0	0.0018	0.0002	0.0039	0.0032	0.0004269	66	154602	rs566759150	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	0.05	0.51248	D	0.384	0.17750	T	0.995	0.77913	D	0.979	0.84481	D	0.003268	0.00950	U	5.088810	0.957031	0.38004	D	0.345	0.11182	N	0.93	0.86349	T	0.27	0.06868	N	0.711	0.75101	-0.2995	0.74999	T	0.576	0.84685	D	10	0.008406937	0.00191	T	0.074533	0.72064	D	0.297	0.61730	.	.	0.902403036094	0.90142	0.13895129386167432	0.13818	0.188262878971	0.21156	0.73977124691	0.72940	T	0.052548	0.29192	T	0.0947825	0.63724	D	-0.101628	0.63272	T	0.0788612767488848	0.09841	T	0.480052	0.14930	T	0.313356	0.54075	0.32990277	0.58865	0.4213184	0.62180	0.32705986	0.58606	-7.142	0.57933	T	.	.	0.136	0.39064	B	.;.;.;.;.	.;.;.;.;.	2.936691	0.39031	20.9	0.98927095159951717	0.48676	0.99051	0.90508	D	AEFDBI	0.822586	0.74288	D	0.268068562511938	0.54539	3.619105	0.319795148205281	0.56704	3.834135	0.743475314039906	0.23249	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	6.366000	0.73033	4.896000	0.45813	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.541	0.61136	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.08333	982.04	35	chr7	39339681	.	T	G	982.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.48;DP=274;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=2.48;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,23:86:99:0|1:39339680_C_CA:1185,0,2546:39339680	5	0	1	0
chr7	39339682	39339682	-	AG	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.639_640insAG:p.Q214Sfs*118,POU6F2:NM_001166018:exon6:c.552_553insAG:p.Q185Sfs*118,POU6F2:NM_007252:exon6:c.552_553insAG:p.Q185Sfs*118	.	1	1503	2	0	16	18	0.000664894	.	.	.	4008053	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0005	0.0001	0.0013	0.0031	3.84e-05	1	26028	rs754399260	0.0009	0.0013	0.0007	0.0011	0.0064	0.0009	0.0008	0.0059	0.0058	0.0001	0.0006	0.0007	0	0.0005	0.0026	0.0006	0.0008	0.0064	0.0010	0.0011	0.0009	0.0012	0.0073	0.0009	0.0009	0.0054	0.0047	0.0002	0	0.0009	0.0009	0	0.0005	0	0.0014	0.0009	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	983.01	35	chr7	39339682	.	C	CAG	983.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=271;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=2.52;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,23:86:99:0|1:39339680_C_CA:1185,0,2546:39339680	5	0	1	0
chr7	39339687	39339687	T	A	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T644A:p.L215H,POU6F2:NM_001166018:exon6:c.T557A:p.L186H,POU6F2:NM_007252:exon6:c.T557A:p.L186H	.	2	1502	14	1	3	19	0.00529801	.	.	.	722504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.173	0.128482008254	.	0.00219649	0.0008	0	0	0	0.0019	0.0003	0.0040	0.0045	0.0006662	103	154602	rs558679060	0.0012	0.0014	0.0010	0.0014	0.0072	0.0011	0.0011	0.0068	0.0066	0.0001	0.0006	0.0007	0	0.0021	0.0035	0.0008	0.0010	0.0072	0.0013	0.0014	0.0011	0.0015	0.0078	0.0012	0.0011	0.0058	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0015	0.0014	0.0078	0.013	0.68238	D	0.091	0.41405	T	0.0	0.02946	B	0.0	0.04355	B	0.526992	0.11679	U	0.674572	0.687166	0.33290	D	0	0.06538	N	0.99	0.86283	T	0.44	0.04091	N	0.472	0.55799	-0.6724	0.61720	T	0.344	0.70899	T	10	0.0053934455	0.00118	T	0.128482	0.81043	D	0.173	0.43840	.	.	0.795581171059	0.79368	0.2851193258759142	0.28424	0.164144482972	0.18523	0.573362588882	0.49153	T	0.081322	0.36571	T	0.0179733	0.54108	T	-0.211959	0.53507	T	0.0254729737496765	0.01335	T	0.329867	0.07558	T	0.11896534	0.28020	0.18976596	0.42341	0.14952165	0.34083	0.16491888	0.38178	-5.183	0.39235	T	.	.	0.233	0.48572	B	.;.;.;.;.	.;.;.;.;.	2.685035	0.35034	19.79	0.95294137525612943	0.26605	0.86589	0.45901	D	AEFDBI	0.091232	0.18482	N	-0.65631439813835	0.17276	0.8876356	-0.530111321139244	0.21337	1.15378	2.95067598432571E-4	0.06406	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.39	1.85	0.24418	2.459000	0.44680	2.056000	0.30370	0.665000	0.62972	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.6554:0.0:0.0:0.3446	8.716	0.33575	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005699	0.010101	0.002717	0.006993	0.000000	0.025862	0.000000	0.007576	0.08333	764.83	35	chr7	39339687	.	T	A	764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=272;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=2.54;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,23:86:99:0|1:39339680_C_CA:775,0,2577:39339680	5	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	90.2	105	chr7	43624718	.	C	G	90.2	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.563;DP=532;ExcessHet=0.4139;FS=295.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.16;SOR=8.567	GT:AD:DP:GQ:PL	0/1:38,16:60:48:48,0,936	4	0	2	0
chr7	47344757	47344757	C	T	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon20:c.G2648A:p.R883H	.	427	1084	11	0	0	11	0.00504819	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.117891833213	0.0002	0.000399361	0.0004	0.0002	8.664e-05	0	0	0.0004	0	0.0016	0.0003752	58	154602	rs200980382	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0022	0.0001	0.0002	0	0	0	0.0041	0.0002	0.0004	0.0013	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.404e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0017	0.805	0.03642	T	0.228	0.25286	T	0.0	0.02946	B	0.0	0.01387	B	0.680532	0.06089	N	1.215580	1	0.08975	N	-0.695	0.01866	N	-2.92	0.92158	D	0.57	0.02721	N	0.095	0.07535	-0.5212	0.67870	T	0.408	0.75734	T	10	0.0065677464	0.00149	T	0.117892	0.79779	D	0.241	0.54641	.	.	0.200294437569	0.19612	0.14802012598127917	0.14724	.	.	0.289016723633	0.08780	T	0.037265	0.24412	T	-0.381049	0.03069	T	-0.355505	0.38573	T	0.00855496471707305	0.00104	T	0.711029	0.32195	T	0.020555025	0.00618	0.022777382	0.00297	0.020555025	0.00618	0.022777382	0.00297	-4.733	0.33801	T	.	.	0.066	0.05360	B	.;.	.;.	0.397629	0.07692	4.364	0.43730734630115159	0.03312	0.00361	0.01848	N	AEFDBI	0.035843	0.04681	N	-1.39174202705502	0.02715	0.1202698	-1.40676126905753	0.03184	0.1480013	0.999990671226792	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	-5.53	0.02351	-0.339000	0.07878	-2.318000	0.03907	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2359:0.1073:0.3856:0.2713	1.630	0.02566	855	0.34697	.;.	.	.	.	.	.	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	0	0	0.002528	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.003817	0.08333	1012.83	37	chr7	47344757	.	C	T	1012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=279;ExcessHet=0;FS=3.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.901;SOR=0.487	GT:AD:DP:GQ:PL	0/1:67,39:106:99:1023,0,1782	5	0	1	0
chr7	47369283	47369283	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1363T:p.R455C	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.27006216484	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.000401	62	154602	rs148721285	0.0003	0.0003	0.0003	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	0.0002	0.0005	0	2.519e-05	0	0.0040	0.0002	0.0006	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.623e-05	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0017	0.0	0.91255	D	0.007	0.92824	D	0.999	0.77913	D	0.732	0.55359	P	0.009228	0.30456	N	0.254913	0.997792	0.81001	D	2.6	0.76081	M	2.02	0.95422	T	-5.16	0.85468	D	0.393	0.43417	0.816	0.94611	D	0.861	0.95387	D	10	0.05390227	0.06305	T	0.270062	0.89844	D	0.262	0.57482	.	.	0.763170643102	0.76101	0.17440321087642913	0.17359	.	.	0.419878840446	0.27818	T	0.35614	0.72304	T	0.0249762	0.55051	T	0.227722	0.84558	D	0.118032040293728	0.14236	T	0.922608	0.74183	D	0.27323943	0.50392	0.2262455	0.47596	0.27323943	0.50392	0.2262455	0.47595	-9.944	0.73576	D	.	.	0.107	0.19998	B	.;.;.	.;.;.	4.089820	0.60902	24.3	0.99911027498506333	0.98022	0.95738	0.65944	D	AEFGBI	0.761565	0.69924	D	0.434415363766789	0.63326	4.564066	0.383335588669547	0.60537	4.242372	0.999999944380405	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	3.142000	0.50296	8.609000	0.77761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.1724:0.8276:0.0	12.193	0.53588	899	0.25060	.;.;.	.	.	.	.	.	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	0.004028	0.005051	0.005435	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	2181.83	86	chr7	47369283	.	G	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=543;ExcessHet=0;FS=0.572;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.709;SOR=0.644	GT:AD:DP:GQ:PL	0/1:80,82:162:99:2192,0,1898	5	0	1	0
chr7	56058445	56058445	G	A	exonic	CCT6A	.	nonsynonymous SNV	CCT6A:NM_001009186:exon6:c.G674A:p.R225K,CCT6A:NM_001762:exon7:c.G809A:p.R270K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.025972956284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.888e-07	1.368e-06	0	1.385e-06	9.027e-07	0	0	.	.	0	0	0	0	0	0	9.027e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02084	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.000000	0.84330	N	0.086474	0.999646	0.48019	D	0.415	0.12483	N	-1.02	0.76300	T	-0.38	0.17417	N	0.345	0.38643	-0.8598	0.51277	T	0.227	0.59158	T	10	0.07614726	0.11858	T	0.025973	0.48910	D	0.231	0.53208	0.478	0.55663	0.364535869594	0.36064	0.6234249207194661	0.62275	0.176366275699	0.19851	0.572799146175	0.49073	T	0.215696	0.57765	T	-0.0539215	0.43849	T	-0.315231	0.43094	T	0.148524463176727	0.16985	T	0.788221	0.42806	T	0.5734434	0.71249	0.3611045	0.61540	0.5734434	0.71250	0.3611045	0.61540	-7.527	0.57801	D	.	.	0.230	0.56959	B	.;.	.;.	2.624194	0.34107	19.53	0.78409749581840682	0.12289	0.97288	0.73812	D	AEFBI	0.847875	0.76471	D	-0.850250608884306	0.12043	0.5847017	-0.618956590618475	0.19007	1.01787	0.999974570028558	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	3.86	0.43689	5.854000	0.69242	.	.	-0.297000	0.06226	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1394:0.0:0.8606:0.0	14.025	0.64099	610	0.67008	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	467.83	33	chr7	56058445	.	G	A	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.77;DP=222;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.705;SOR=0.967	GT:AD:DP:GQ:PL	0/1:25,17:42:99:478,0,580	5	0	1	0
chr7	64831587	64831587	T	G	exonic	ZNF138	.	nonsynonymous SNV	ZNF138:NM_006524:exon3:c.T267G:p.D89E,ZNF138:NM_001271638:exon4:c.T249G:p.D83E,ZNF138:NM_001271639:exon4:c.T345G:p.D115E,ZNF138:NM_001367572:exon5:c.T174G:p.D58E	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0009	0.00239617	0.0018	0	0.0013	0	0	0.0010	0.0011	0.0080	0.0016041	248	154602	rs147588810	0.0011	0.0011	0.0009	0.0014	0.0079	0.0011	0.0011	0.0074	0.0072	8.965e-05	0.0009	0.0020	5.042e-05	7.492e-05	0.0033	0.0007	0.0011	0.0079	0.0008	0.0008	0.0007	0.0008	0.0075	0.0006	0.0006	0.0055	0.0049	0.0002	0	0.0007	0.0023	0.0002	0.0002	0.0034	0.0007	0.0005	0.0075	0.008	0.61437	D	0.358	0.23638	T	0.864	0.47514	P	0.437	0.45591	B	.	.	.	.	1	0.08975	N	.	.	.	3.51	0.04959	T	-3.12	0.65972	D	0.046	0.02088	-1.0198	0.23780	T	0.021	0.08963	T	9	0.004234642	0.00085	T	.	.	.	0.035	0.08770	0.16	0.06396	0.117506650769	0.11410	0.0040252320605216035	0.00377	0.122585095412	0.13814	.	.	.	.	.	.	-0.70477	0.00034	T	-0.781124	0.02419	T	0.0317831349857848	0.02271	T	0.60264	0.22576	T	.	.	.	.	.	.	.	.	-6.637	0.51335	T	.	.	0.115	0.31228	B	.;.;.	.;.;.	0.464503	0.08344	5.092	0.96346750343163889	0.29503	0.00501	0.02358	N	AEFBI	0.038064	0.05330	N	-0.892165934712263	0.11027	0.5300173	-1.1145648777584	0.07422	0.3609264	0.0194890606020563	0.13166	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.85	-1.7	0.07721	-2.206000	0.01315	.	.	-0.695000	0.04090	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4886:0.5114	2.920	0.05411	769	0.49307	.;.;.	.	.	.	.	.	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	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.08333	1535.83	38	chr7	64831587	.	T	G	1535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.334;DP=285;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=1.13;SOR=0.455	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1546,0,1052	5	0	1	0
chr7	74376754	74376754	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.G2248A:p.E750K,CLIP2:NM_003388:exon10:c.G2353A:p.E785K	.	426	1093	3	0	0	3	0.00137049	.	.	.	3305638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0125921285795	.	0.000199681	0.0001	0	0.0001	0	0	0.0002	0.0015	0	7.12e-05	11	154602	rs199947783	8.219e-05	8.209e-05	7.631e-05	8.814e-05	0.0005	7.011e-05	6.561e-05	0.0001	7.541e-05	2.988e-05	9.006e-05	0	0	0.0001	0.0005	7.827e-05	9.946e-05	0.0001	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.087e-05	5.744e-05	0.0001	9.901e-05	2.405e-05	0	0	0	0	0	0	0.0002	0.0005	0.0002	0.112	0.29158	T	0.319	0.19188	T	0.668	0.41123	P	0.355	0.42984	B	0.014501	0.28517	N	0.373626	0.999649	0.51612	D	2.295	0.65404	M	0.19	0.60236	T	-1.87	0.47344	N	0.767	0.76481	-0.7273	0.59099	T	0.254	0.62360	T	10	0.4227434	0.56973	T	0.012592	0.31297	T	0.139	0.37390	.	.	0.508148174324	0.50453	0.3239795739203378	0.32310	0.650682689082	0.58340	0.639001607895	0.58422	T	0.138468	0.47198	T	-0.0721062	0.40990	T	-0.126017	0.61305	T	0.125339105725288	0.14945	T	0.766923	0.39491	T	0.12656818	0.29641	0.14647627	0.34701	0.12656818	0.29640	0.14647627	0.34700	-8.285	0.62995	D	.	.	0.223	0.45483	B	.;.;.	.;.;.	3.734355	0.53434	23.4	0.9987285333908964	0.94989	0.90287	0.51344	D	AEFDBHCI	0.716450	0.66828	D	0.276735176492867	0.54972	3.661673	0.346061775038808	0.58272	3.996692	0.996763074762689	0.34990	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	6.560000	0.73846	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.741	0.85320	917	0.20147	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	557.83	39	chr7	74376754	.	G	A	557.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=238;ExcessHet=0;FS=1.082;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.036;SOR=0.908	GT:AD:DP:GQ:PL	0/1:30,23:53:99:568,0,734	5	0	1	0
chr7	77537635	77537635	G	A	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_002835:exon1:c.G89A:p.R30Q	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.231543618518	0.0002	0.000199681	0.0009	0.0002	0.0003	0	0.0004	0.0009	0	0.0024	0.0004786	74	154602	rs138381153	0.0005	0.0006	0.0004	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	9.476e-05	2.323e-05	0.0002	0	0.0005	0.0002	0.0005	0.0004	0.0027	0.0005	0.0005	0.0006	0.0004	0.0019	0.0004	0.0004	0.0010	0.0007	7.218e-05	0	0	0.0006	0	0.0006	0	0.0008	0.0005	0.0019	0.476	0.08335	T	0.343	0.17857	T	0.439	0.35873	B	0.02	0.19048	B	0.368019	0.13570	N	0.673120	0.781724	0.29325	N	0.77	0.19370	N	1.62	0.28189	T	0.06	0.06253	N	0.237	0.26717	-1.0630	0.11021	T	0.034	0.14596	T	10	0.011890203	0.00258	T	0.231544	0.88281	D	0.078	0.22779	.	.	0.51375633675	0.51017	0.279720681006298	0.27885	1.20263528524	0.80585	0.732449114323	0.71865	T	0.060007	0.31270	T	-0.495545	0.00606	T	-0.488896	0.23506	T	0.0651863024058845	0.07958	T	0.89721	0.64041	D	0.2001326	0.41977	0.12520786	0.30172	0.2001326	0.41977	0.12520786	0.30171	-2.752	0.07750	T	.	.	0.111	0.21428	B	.	.	3.857368	0.55922	23.7	0.88681212660094078	0.18170	0.81158	0.40622	D	AEFDBHCIJ	0.522894	0.54672	D	-0.339408372944977	0.27664	1.519571	-0.26984179756363	0.29097	1.627492	0.99999993643164	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.98	2.98	0.33575	3.447000	0.52699	10.885000	0.84068	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.2074:0.7926:0.0	10.035	0.41297	339	0.86048	PTP type protein phosphatase|PTP type protein phosphatase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	328.83	34	chr7	77537635	.	G	A	328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=201;ExcessHet=0;FS=6.779;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.205;SOR=0.105	GT:AD:DP:GQ:PL	0/1:10,14:24:99:339,0,221	5	0	1	0
chr7	80671008	80671008	A	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.A733C:p.N245H,CD36:NM_001371080:exon7:c.A385C:p.N129H,CD36:NM_001127444:exon8:c.A850C:p.N284H,CD36:NM_001289909:exon8:c.A670C:p.N224H,CD36:NM_001289911:exon8:c.A622C:p.N208H,CD36:NM_001127443:exon9:c.A850C:p.N284H,CD36:NM_000072:exon10:c.A850C:p.N284H,CD36:NM_001001547:exon10:c.A850C:p.N284H,CD36:NM_001001548:exon10:c.A850C:p.N284H,CD36:NM_001371074:exon10:c.A850C:p.N284H,CD36:NM_001371075:exon10:c.A850C:p.N284H,CD36:NM_001371077:exon10:c.A850C:p.N284H,CD36:NM_001371078:exon10:c.A850C:p.N284H,CD36:NM_001371079:exon10:c.A748C:p.N250H,CD36:NM_001371081:exon10:c.A385C:p.N129H	Platelet glycoprotein IV deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0367667101625	.	.	8.24e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768809508	2.601e-05	2.668e-05	3.133e-05	2.064e-05	3.239e-05	1.933e-05	1.693e-05	2.371e-05	2.104e-05	0	0	0	0	0	0	3.239e-05	1.657e-05	1.16e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.039	0.49613	D	0.117	0.39340	T	0.703	0.41913	P	0.54	0.48825	P	0.001109	0.40219	N	0.283599	1	0.21810	N	2.75	0.80375	M	-0.61	0.71779	T	-2.72	0.57920	D	0.357	0.42050	-0.6202	0.63980	T	0.315	0.68504	T	9	0.21077952	0.37483	T	0.036767	0.57199	D	0.269	0.58381	0.4	0.42917	0.130388298395	0.12655	0.7499346495559543	0.74940	3.71968781554E-4	0.00038	0.347700089216	0.17583	T	0.13585	0.46790	T	-0.105591	0.35497	T	-0.292596	0.45501	T	0.786999106407166	0.45494	D	0.889111	0.63379	D	0.482962	0.66080	0.29364994	0.55393	0.482962	0.66080	0.29364994	0.55393	-6.551	0.50678	T	0.3594371646804513	0.45600	0.090	0.12465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.369616	0.17795	13.37	0.99236062075628162	0.56373	0.20315	0.20995	N	AEFCI	0.375547	0.46004	N	-0.646079361111405	0.17574	0.905494	-0.799998878018092	0.14496	0.7576667	0.118817501089885	0.16831	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.85	-2.72	0.05616	-0.267000	0.08648	-0.404000	0.09391	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.829000	0.39076	0.379:0.1386:0.4824:0.0	9.664	0.39138	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	656.83	34	chr7	80671008	.	A	C	656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=220;ExcessHet=0;FS=2.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.599;SOR=1.255	GT:AD:DP:GQ:PL	0/1:23,25:48:99:667,0,593	5	0	1	0
chr7	94551390	94551390	G	A	exonic	CASD1	.	nonsynonymous SNV	CASD1:NM_001363427:exon15:c.G1046A:p.R349H,CASD1:NM_001363428:exon15:c.G1313A:p.R438H,CASD1:NM_022900:exon15:c.G1868A:p.R623H,CASD1:NM_001363426:exon16:c.G1439A:p.R480H	.	.	.	.	.	.	.	.	.	.	.	3295423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00487971575508	0.0002	0.000199681	0.0001	0.0001	0	0.0001	0.0002	7.827e-05	0	0.0003	0.0001423	22	154602	rs150476678	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	3.096e-05	0	2.773e-05	5.69e-05	0	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0002	0.0005	0	0.293	0.14843	T	0.3	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	0.005216	0.32996	N	0.355822	0.728742	0.29850	N	-0.165	0.04321	N	0.95	0.43279	T	1.69	0.00584	N	0.123	0.11483	-1.0644	0.10689	T	0.029	0.12409	T	10	0.023097754	0.00594	T	0.00488	0.12255	T	0.055	0.15663	.	.	0.178374595973	0.17440	0.27836419279855873	0.27749	0.483244084845	0.47279	0.330159366131	0.14958	T	0.014914	0.12608	T	-0.43269	0.01428	T	-0.594877	0.13246	T	0.0498514321869069	0.05475	T	0.89791	0.64303	D	0.03074472	0.02791	0.044710573	0.05855	0.03074472	0.02790	0.044710573	0.05855	-2.126	0.03697	T	.	.	0.078	0.07036	B	.	.	3.272394	0.44800	22.0	0.9532166722083949	0.26668	0.85830	0.45008	D	AEFBI	0.110944	0.21982	N	-0.553337662976097	0.20380	1.073872	-0.291075563231098	0.28390	1.582695	4.27615317986064E-4	0.06935	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.63	2.83	0.32150	2.423000	0.44361	5.854000	0.50366	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.966000	0.53164	0.3617:0.0:0.6383:0.0	8.333	0.31356	632	0.64850	Cas1p 10 TM acyl transferase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	460.83	33	chr7	94551390	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.183;DP=213;ExcessHet=0;FS=1.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.709;SOR=1.002	GT:AD:DP:GQ:PL	0/1:26,20:46:99:471,0,668	5	0	1	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	840	0.37365	.	.	.	.	.	.	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	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.08333	929.83	34	chr7	95311568	.	A	C	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.12;SOR=0.655	GT:AD:DP:GQ:PL	0/1:40,36:76:99:940,0,953	5	0	1	0
chr7	99493951	99493951	G	A	exonic	ZNF394	.	nonsynonymous SNV	ZNF394:NM_032164:exon3:c.C1264T:p.R422C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00375366063368	7.7e-05	.	4.942e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs140280438	3.352e-05	3.352e-05	2.722e-05	3.988e-05	0.0002	2.566e-05	2.312e-05	2.985e-05	2.022e-05	2.987e-05	8.944e-05	0	0	0	0.0002	3.147e-05	9.934e-05	2.319e-05	2.629e-05	2.627e-05	5.139e-05	0	6.55e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.55e-05	0	0	0	0	4.41e-05	0	0	0.063	0.36709	T	0.149	0.32568	T	0.0	0.02946	B	0.001	0.04355	B	0.551188	0.11434	N	0.784778	1	0.08975	N	1.91	0.51138	L	2.1	0.19990	T	1.15	0.01151	N	0.045	0.01740	-1.0124	0.26165	T	0.022	0.09193	T	10	0.088547975	0.15256	T	0.003754	0.08713	T	0.017	0.02790	.	.	0.19670166235	0.19296	.	.	0.397479418646	0.40839	0.26919978857	0.06037	T	0.014238	0.12157	T	-0.51566	0.00466	T	-0.780843	0.02427	T	0.0341095013909232	0.02657	T	0.681032	0.28992	T	0.043449283	0.06772	0.037724234	0.03487	0.043449283	0.06771	0.037724234	0.03487	-4.128	0.25701	T	.	.	0.128	0.27403	B	.	.	0.957291	0.13337	9.840	0.80649634807155735	0.13303	0.02431	0.06858	N	AEFDBHCI	0.047429	0.07985	N	-1.33367483512086	0.03297	0.1470403	-1.38160823819252	0.03448	0.1608555	0.999993208697839	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.54	-2.24	0.06518	-0.862000	0.04371	-3.554000	0.02700	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.276000	0.23917	0.4535:0.0:0.2336:0.3129	4.089	0.09437	329	0.86514	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1125.83	34	chr7	99493951	.	G	A	1125.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=284;ExcessHet=0;FS=6.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.099;SOR=1.347	GT:AD:DP:GQ:PL	0/1:66,41:107:99:1136,0,1806	5	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	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	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.08333	956.83	33	chr7	100029881	.	C	G	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.92;DP=266;ExcessHet=0;FS=3.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.303;SOR=1.134	GT:AD:DP:GQ:PL	0/1:59,38:97:99:967,0,1437	5	0	1	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	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	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.08333	861.83	37	chr7	100220255	.	C	T	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=236;ExcessHet=0;FS=4.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=1.94;SOR=0.268	GT:AD:DP:GQ:PL	0/1:19,29:48:99:872,0,451	5	0	1	0
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I,LRCH4:NM_002319:exon5:c.G646A:p.V216I	.	415	1068	36	3	0	42	0.0192837	.	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	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	1	0	0.017120	0.005051	0.021739	0.005882	0.000000	0.043103	0.018293	0.018939	0.08333	596.83	38	chr7	100578739	.	C	T	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=230;ExcessHet=0;FS=4.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.321;SOR=0.293	GT:AD:DP:GQ:PL	0/1:28,24:52:99:607,0,637	5	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1519.29	59	chr7	100773851	.	A	*	1519.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=392;ExcessHet=0.7136;FS=2.532;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-1.128;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,34:67:99:0|1:100773849_CCAT_C:1328,0,1283:100773849	2	2	2	0
chr7	100786066	100786066	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon37:c.G6904A:p.G2302R,ZAN:NM_173059:exon37:c.G6904A:p.G2302R	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.00141368348533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200555930	2.395e-05	2.463e-05	2.45e-05	2.338e-05	0.0002	1.739e-05	1.539e-05	1.83e-05	1.582e-05	0	0	0	0	1.874e-05	0.0002	2.608e-05	6.626e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	0.903	0.03021	T	0.001	0.07471	B	0.001	0.04355	B	0.397035	0.04512	N	1.461850	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.097	0.10626	-0.9357	0.43288	T	0.007	0.02321	T	9	0.050958455	0.04906	T	0.001414	0.02088	T	0.265	0.57870	0.432	0.48171	0.117506650769	0.11410	0.5240625416487723	0.52330	0.0818412678812	0.09219	0.184047847986	0.00137	T	0.002266	0.01662	T	0.368157	0.87893	D	0.291055	0.87737	D	0.085916556417942	0.10725	T	0.760924	0.38541	T	0.04107942	0.05984	0.07233965	0.15594	0.04107942	0.05984	0.07233965	0.15593	-0.221	0.00437	T	.	.	0.059	0.00742	B	.;.;.;.	.;.;.;.	-0.974872	0.00808	0.027	0.87126042349072164	0.17006	0.00757	0.03139	N	AEFDBIJ	0.018016	0.00514	N	-1.37357511696995	0.02887	0.1281718	-1.42227487066613	0.03030	0.1405792	0.0255053720944553	0.13653	0.053988	0.00671	0	0.059962	0.00310	0	0.050388	0.00267	0	0.058706	0.01089	0	.	.	4.77	-3.44	0.04493	-1.848000	0.01766	-6.572000	0.01362	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.377000	0.26268	0.3587:0.2435:0.2418:0.1559	1.227	0.01819	697	0.58201	TILa domain|VWFC domain|VWFC domain;TILa domain|VWFC domain;TILa domain|VWFC domain|VWFC domain;TILa domain|VWFC 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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	296.83	41	chr7	100786066	.	G	A	296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=230;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.44;SOR=0.928	GT:AD:DP:GQ:PL	0/1:26,12:38:99:307,0,616	5	0	1	0
chr7	100819734	100819734	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon6:c.G1120A:p.G374R	.	427	1092	3	0	0	3	0.00137174	.	.	.	2858811	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.548	0.178587345	.	0.000998403	0.0010	0.0001	0.0012	0	0	4.273e-05	0	0.0051	0.0006404	99	154602	rs534368922	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	2.993e-05	0.0009	0	0	0	0.0007	3.961e-05	0.0003	0.0041	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	9.618e-05	0	0.0008	0	0	0	0	7.35e-05	0.0005	0.0052	0.03	0.45393	D	0.085	0.41074	T	0.981	0.59675	D	0.73	0.55268	P	0.004217	0.33991	N	0.137133	0.987292	0.24531	N	1.63	0.41750	L	-4.4	0.97419	D	-3.49	0.69593	D	0.34	0.38129	0.542	0.91127	D	0.891	0.96382	D	10	0.014349163	0.00302	T	0.178587	0.85366	D	0.548	0.81252	0.59	0.71874	0.942627131603	0.94202	0.5405495959261755	0.53979	1.0380228498	0.75678	0.660882771015	0.61535	T	0.273468	0.64591	T	-0.0448753	0.45224	T	0.161925	0.80925	D	0.314560621976852	0.25600	T	0.818018	0.49436	T	0.22113293	0.44684	0.2083226	0.45130	0.20166036	0.42184	0.19923347	0.43795	-7.239	0.55761	T	0.2109400763986856	0.28271	0.137	0.29887	B	.;.	.;.	3.818768	0.55127	23.6	0.99854537233845608	0.93368	0.82015	0.41310	D	AEFDBI	0.274137	0.38939	N	0.301704343220864	0.56237	3.788016	0.22092247390116	0.51011	3.287318	0.999999337613891	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.46	4.57	0.55860	2.625000	0.46117	5.788000	0.49850	0.599000	0.40250	0.016000	0.19238	1.000000	0.68203	0.015000	0.10482	0.1845:0.7236:0.0:0.0918	6.294	0.20283	691	0.58815	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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	1342.83	34	chr7	100819734	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=287;ExcessHet=0;FS=9.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.91;SOR=1.557	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1353,0,1397	5	0	1	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,102:439:99:0|1:100953098_G_C:3377,0,12332:100953098	0	0	6	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	926.04	586	chr7	100953494	.	C	*	926.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.326;DP=4210;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.79;MQRankSum=-7.231;QD=0.59;ReadPosRankSum=1.92;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:634,87:721:99:.:.:1715,0,26780:.	5	0	1	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	4486.23	721	chr7	100953548	.	C	T	4486.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=4439;ExcessHet=3.1439;FS=0.937;MLEAC=1;MLEAF=0.083;MQ=55.42;MQRankSum=-6.083;QD=1.39;ReadPosRankSum=2.16;SOR=0.901	GT:AD:DP:GQ:PL	0/1:628,96:728:99:2141,0,26081	5	0	1	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1194.83	740	chr7	100953580	.	T	G	1194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.449;DP=4385;ExcessHet=0;FS=6.275;MLEAC=1;MLEAF=0.083;MQ=55.81;MQRankSum=-3.608;QD=1.73;ReadPosRankSum=2.53;SOR=1.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:618,73:691:99:0|1:100953515_C_T:1205,0,25730:100953515	5	0	1	0
chr7	101013966	101013966	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon9:c.T15692C:p.I5231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0104223073806	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs369951785	5.346e-05	5.062e-05	4.278e-05	6.442e-05	0.0004	4.356e-05	3.99e-05	6.163e-05	3.857e-05	3.166e-05	0	0	0	0	0.0004	5.377e-05	0.0001	7.596e-05	3.943e-05	3.94e-05	3.856e-05	4.035e-05	8.822e-05	1.716e-05	1.13e-05	3.763e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.074	0.34621	T	0.173	0.30143	T	.	.	.	.	.	.	0.647761	0.05905	N	1.259530	1	0.08975	N	0.2	0.09183	N	0.94	0.43672	T	-1.0	0.26422	N	0.123	0.15328	-1.0201	0.23682	T	0.050	0.21222	T	8	0.069351286	0.09939	T	0.010422	0.26937	T	0.013	0.01715	.	.	0.0482279557977	0.04254	0.7772171344829375	0.77671	.	.	0.344941675663	0.17175	T	0.00456	0.03968	T	-0.540119	0.00334	T	-0.721471	0.04725	T	0.017502619367934	0.00485	T	0.336666	0.07200	T	0.041218217	0.06030	0.052898753	0.08807	0.041218217	0.06030	0.052898753	0.08807	-5.276	0.39705	T	.	.	0.251	0.48531	B	.;.	.;.	0.712497	0.10815	7.495	0.28143278524012461	0.01431	0.00305	0.01619	N	AEFDBI	0.034875	0.04397	N	-1.26536683678459	0.04100	0.1844128	-1.4306362240064	0.02950	0.1367013	0.12576338254589	0.16985	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.86	-3.94	0.03856	-0.579000	0.05927	-0.579000	0.08386	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6958:0.0:0.3042	8.829	0.34233	824	0.40336	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	930.83	35	chr7	101013966	.	T	C	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.557;DP=240;ExcessHet=0;FS=0.994;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.547;SOR=0.487	GT:AD:DP:GQ:PL	0/1:26,35:61:99:941,0,642	5	0	1	0
chr7	101034592	101034592	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3176T:p.T1059M	.	416	1069	37	0	0	37	0.0170115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	.	0.0067	0.0017	0.0048	0.0001	0.0009	0.0083	0.0088	0.0103	0.0057114	883	154602	rs144904263	0.0073	0.0083	0.0072	0.0075	0.0200	0.0072	0.0072	0.0170	0.0159	0.0013	0.0043	0.0176	2.534e-05	0.0011	0.0200	0.0077	0.0088	0.0088	0.0042	0.0063	0.0047	0.0037	0.0068	0.0039	0.0038	0.0063	0.0061	0.0009	0.0011	0.0024	0.0143	0	0.0006	0.0105	0.0068	0.0076	0.0051	0.012	0.54683	D	.	.	.	0.968	0.56581	D	0.105	0.31087	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.26	0.02538	T	-0.77	0.21429	N	0.047	0.01911	-0.8863	0.49248	T	0.004	0.01192	T	9	0.0051009655	0.00110	T	.	.	.	0.095	0.27398	.	.	0.0138822411134	0.00435	0.002995186224735075	0.00279	.	.	0.21727925539	0.01159	T	0.017352	0.14172	T	-0.692104	0.00041	T	-0.760963	0.03078	T	0.0075188941836622	0.00087	T	0.435556	0.11926	T	0.020548632	0.00617	0.035751507	0.02887	0.020548632	0.00616	0.035751507	0.02886	-6.792	0.52500	T	.	.	0.097	0.15743	B	.	.	0.283147	0.06599	3.091	0.37993982564826517	0.02536	0.00308	0.01632	N	AEFGBI	0.039571	0.05765	N	-1.39427633929123	0.02691	0.1191954	-1.57979180434879	0.01779	0.08096282	0.00153576149883892	0.08622	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.481	-0.962	0.09806	0.275000	0.18461	-9.209000	0.00852	-0.650000	0.04392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3323:0.0:0.6677	5.534	0.16292	830	0.39242	.	.	.	.	.	.	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	0.016913	0.005051	0.005435	0.045082	0.000000	0.043103	0.027439	0.011364	0.08333	6086.83	33	chr7	101034592	.	C	T	6086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.55;DP=4912;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.083;MQ=59.32;MQRankSum=-3.172;QD=5.44;ReadPosRankSum=-1.707;SOR=0.678	GT:AD:DP:GQ:PL	0/1:841,277:1118:99:6097,0,22774	5	0	1	0
chr7	102317213	102317213	G	A	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon7:c.G1213A:p.E405K,SH2B2:NM_001359229:exon7:c.G1213A:p.E405K,SH2B2:NM_001359230:exon7:c.G1210A:p.E404K,SH2B2:NM_001359231:exon7:c.G1210A:p.E404K,SH2B2:NM_020979:exon7:c.G1342A:p.E448K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0737424495379	.	.	4.498e-05	0	0.0002	0	0	0	0.0020	9.217e-05	1.94e-05	3	154602	rs782777792	1.442e-05	1.505e-05	1.502e-05	1.382e-05	6.821e-05	9.27e-06	7.87e-06	2.217e-05	1.447e-05	0	6.821e-05	0	0	0	0	1.172e-05	0	5.878e-05	6.574e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.436e-05	0	0	0	0	0.165	0.23271	T	0.317	0.19304	T	.	.	.	.	.	.	0.000294	0.46274	D	0.216956	.	.	.	.	.	.	0.9	0.45248	T	-1.33	0.33197	N	0.164	0.17278	-0.8879	0.49113	T	0.072	0.29098	T	9	0.1578736	0.29700	T	0.073742	0.71866	D	0.146	0.38789	.	.	0.646995065335	0.64406	0.37465928050806746	0.37379	0.17292932455	0.19480	0.37109130621	0.20988	T	.	.	.	-0.259969	0.12904	T	-0.412211	0.31971	T	0.390815943479538	0.28596	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	-13.728	0.92139	D	.	.	0.084	0.09868	B	.	.	2.457454	0.31654	18.81	0.99659404803556573	0.77820	0.80393	0.40043	D	AEFDBCI	0.173627	0.30071	N	-0.482557271336236	0.22653	1.211069	-0.585874490463021	0.19861	1.06751	0.687896045603733	0.22555	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	3.8	0.85	0.18119	1.589000	0.36253	3.064000	0.36172	0.675000	0.71128	0.847000	0.30396	0.999000	0.35428	0.002000	0.04165	0.0849:0.2956:0.6194:0.0	8.359	0.31508	759	0.50631	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	743.83	34	chr7	102317213	.	G	A	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.775;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,30:60:99:754,0,700	5	0	1	0
chr7	102468293	102468293	C	G	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon7:c.C379G:p.L127V,LRWD1:NM_152892:exon7:c.C835G:p.L279V	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.158904088497	0.0018	0.000599042	0.0035	0.0004	0.0003	0	0.0024	0.0049	0	0.0035	0.0024321	376	154602	rs148425285	0.0025	0.0025	0.0024	0.0025	0.0031	0.0024	0.0024	0.0028	0.0027	0.0002	0.0006	0.0318	2.524e-05	0.0015	0.0017	0.0019	0.0049	0.0031	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0018	0.0003	0	0.0007	0.0276	0	0.0008	0	0.0019	0.0028	0.0035	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	2.16	0.60381	M	-0.84	0.74265	T	-1.36	0.33798	N	0.524	0.55366	-0.2259	0.76995	T	0.487	0.80491	T	10	0.008157939	0.00185	T	0.158904	0.83920	D	0.469	0.76355	.	.	0.833474424401	0.83189	0.6904765006523477	0.68987	0.338710026487	0.35836	0.575519323349	0.49455	T	0.052061	0.29053	T	-0.277646	0.10920	T	-0.17496	0.56987	T	0.0400554426226445	0.03700	T	0.876112	0.69967	D	0.44136426	0.63490	0.358931	0.61360	0.44136426	0.63491	0.358931	0.61360	-9.934	0.73516	D	.	.	0.415	0.68198	A	.;.	.;.	3.826703	0.55292	23.6	0.99804638777583465	0.88906	0.95416	0.64634	D	AEFDBCI	0.735877	0.68155	D	0.321266493118608	0.57241	3.89076	0.301940180032929	0.55653	3.728212	0.999998830705925	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.04	4.17	0.48303	4.964000	0.63410	3.317000	0.37513	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9223:0.0:0.0777	12.947	0.57776	524	0.74079	.;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	362.83	34	chr7	102468293	.	C	G	362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.332;DP=171;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=-0.933;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,14:21:99:0|1:102468293_C_G:373,0,227:102468293	5	0	1	0
chr7	116796087	116796087	T	G	exonic	MET	.	nonsynonymous SNV	MET:NM_001324402:exon20:c.T2846G:p.V949G,MET:NM_000245:exon21:c.T4136G:p.V1379G,MET:NM_001127500:exon21:c.T4190G:p.V1397G	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1521	1	0	0	1	0.000328623	.	.	.	1044590	Hereditary_cancer-predisposing_syndrome|not_provided|Renal_cell_carcinoma	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	0.0157620198462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.435	0.13518	T	0.0	0.02946	B	0.0	0.01387	B	0.210677	0.16373	N	0.669254	0.983433	0.43626	D	0	0.06538	N	-0.78	0.73631	T	-0.49	0.15578	N	0.068	0.12627	-1.0172	0.24625	T	0.177	0.52272	T	10	0.07837874	0.12485	T	0.015762	0.36670	T	0.145	0.38592	0.308	0.27967	0.452476734342	0.44872	0.6178991278886501	0.61722	1.00905915386	0.74685	0.267533689737	0.05821	T	0.293877	0.66657	T	-0.0652781	0.42077	T	-0.331544	0.41297	T	0.0492458529770374	0.05366	T	0.208679	0.02500	T	0.05912511	0.11979	0.0438646	0.05553	0.05912511	0.11979	0.0438646	0.05553	-3.262	0.13252	T	.	.	0.062	0.01328	B	.;.	.;.	0.895990	0.12696	9.219	0.81052768644004425	0.13496	0.78801	0.38934	D	AEFBI	0.283981	0.39696	N	-0.692279811078883	0.16241	0.8256814	-0.567152230387967	0.20352	1.096117	0.994560936662363	0.33696	0.722319	0.85440	0	0.563428	0.19063	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	4.43	1.99	0.25423	0.446000	0.21410	1.716000	0.28228	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.287000	0.24188	0.0:0.1645:0.1524:0.6831	5.216	0.14666	703	0.57489	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1497.83	47	chr7	116796087	.	T	G	1497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=322;ExcessHet=0;FS=3.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.38;SOR=1.056	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1508,0,1471	5	0	1	0
chr7	121124461	121124461	A	C	exonic	CPED1	.	nonsynonymous SNV	CPED1:NM_001105533:exon7:c.A1049C:p.K350T,CPED1:NM_024913:exon8:c.A1049C:p.K350T	.	435	1085	2	0	0	2	0.00092081	.	.	.	2333784	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.015666289211	7.7e-05	0.000199681	0.0003	0	0.0002	0	0.0006	0.0003	0	0.0005	0.0002199	34	154602	rs200186503	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	0.0003	0.0007	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	7.221e-05	0	0.0001	0	0	0.0006	0	0.0003	0	0.0006	0.029	0.54683	D	0.08	0.47828	T	0.219	0.73220	B	0.061	0.68536	B	0.012007	0.29322	N	0.339227	0.842129	0.35084	D	2.84	0.82582	M	0.78	0.49358	T	-1.53	0.69118	N	0.325	0.38438	-0.5715	0.65955	T	0.273	0.64515	T	10	0.077049404	0.12114	T	0.015666	0.36531	T	0.091	0.26358	.	.	0.242825505644	0.23883	0.4278098411833417	0.42697	0.0869547142286	0.09809	0.501538872719	0.39042	T	0.059874	0.38036	T	-0.220472	0.17928	T	-0.205038	0.54169	T	0.0619388859839075	0.07471	T	0.868613	0.57103	D	0.20081358	0.42070	0.124403775	0.29986	0.20081358	0.42070	0.124403775	0.29985	-0.843	0.00841	T	.	.	0.199	0.42259	B	.;.;.;.;.	.;.;.;.;.	3.114401	0.42023	21.5	0.99384839343024844	0.62068	0.90110	0.51034	D	AEFBI	0.673406	0.63948	D	0.211104139224444	0.51735	3.352587	0.25377809775778	0.52866	3.458518	0.999998854754102	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	4.228000	0.58419	6.174000	0.54533	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	1.0:0.0:0.0:0.0	13.367	0.60133	883	0.28872	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	279.83	30	chr7	121124461	.	A	C	279.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.604;DP=170;ExcessHet=0;FS=1.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.488;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,13:26:99:290,0,397	5	0	1	0
chr7	121339164	121339164	A	G	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon4:c.A887G:p.Q296R,WNT16:NM_057168:exon4:c.A917G:p.Q306R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00707722374607	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168501365	4.104e-06	4.104e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	0.05420	T	0.98	0.02423	T	0.001	0.07471	B	0.002	0.06944	B	0.000485	0.43931	N	0.263887	0.596084	0.32497	D	-0.65	0.02095	N	-0.95	0.75438	T	-0.64	0.18670	N	0.145	0.14622	-0.8988	0.48115	T	0.139	0.45810	T	10	0.19924125	0.35926	T	0.007077	0.18759	T	0.130	0.35528	0.575	0.69957	0.883659811782	0.88252	0.49947047618281687	0.49868	0.166182025418	0.18754	0.479666173458	0.36010	T	0.382596	0.74464	T	-0.23396	0.16127	T	-0.476989	0.24768	T	0.0341178569489577	0.02658	T	0.839216	0.51320	T	0.08249704	0.19006	0.07639971	0.16916	0.08249704	0.19006	0.07639971	0.16916	-2.71	0.07387	T	.	.	0.061	0.02518	B	.;.	.;.	1.315346	0.17185	13.01	0.91411881985884802	0.20679	0.59154	0.30837	D	AEFHCI	0.162161	0.28831	N	-0.600823006671817	0.18921	0.9861644	-0.371102058913237	0.25862	1.424931	0.999999811198856	0.74766	0.581397	0.33459	0	0.187218	0.04217	2	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.81	3.49	0.39065	2.376000	0.43947	3.689000	0.39491	0.756000	0.94297	0.704000	0.28664	1.000000	0.68203	0.999000	0.91618	0.8603:0.0:0.1397:0.0	9.662	0.39123	804	0.43891	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1576.83	94	chr7	121339164	.	A	G	1576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.278;DP=419;ExcessHet=0;FS=12.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.934;SOR=1.485	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1587,0,1830	5	0	1	0
chr7	128677743	128677743	C	T	exonic	FAM71F2	.	nonsynonymous SNV	FAM71F2:NM_001012454:exon3:c.C545T:p.T182I,FAM71F2:NM_001128926:exon3:c.C518T:p.T173I,FAM71F2:NM_001290254:exon4:c.C260T:p.T87I,FAM71F2:NM_001290255:exon4:c.C260T:p.T87I	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0060	0.00738818	0.0098	0.0013	0.0035	0.0001	0.0020	0.0089	0.0056	0.0312	0.0091202	1410	154602	rs201533178	0.0088	0.0088	0.0080	0.0096	0.0311	0.0087	0.0086	0.0301	0.0297	0.0015	0.0029	0.0068	7.557e-05	0.0013	0.0139	0.0082	0.0079	0.0311	0.0056	0.0056	0.0056	0.0056	0.0288	0.0053	0.0052	0.0249	0.0234	0.0015	0.0241	0.0029	0.0066	0.0002	0.0006	0.0136	0.0081	0.0028	0.0288	0.03	0.45393	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000113	0.50451	D	0.000000	0.80703	0.81001	D	2.14	0.59869	M	2.08	0.20255	T	-2.68	0.57275	D	.	.	-0.8908	0.48864	T	0.097	0.36341	T	10	0.00919649	0.00208	T	.	.	.	0.110	0.31079	.	.	.	.	0.5546752896110517	0.55394	.	.	0.627503037453	0.56791	T	0.082458	0.36831	T	-0.349493	0.04759	T	-0.252487	0.49571	T	0.0126631620357627	0.00212	T	0.782522	0.41827	T	0.44731474	0.63871	0.39873335	0.64455	0.44731474	0.63872	0.39873335	0.64455	-8.007	0.63169	D	.	.	0.717	0.73971	P	.;.	.;.	4.118072	0.61526	24.3	0.99909957456325926	0.97949	0.79437	0.39362	D	AEFBI	0.286245	0.39868	N	0.690633544851522	0.79018	6.990073	0.679180252109865	0.80802	7.380318	0.99989815711009	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.7	5.7	0.88690	2.480000	0.44865	4.835000	0.45233	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	15.345	0.74043	428	0.80967	Domain of unknown function DUF3699;.	.	.	.	.	.	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	0.011078	0.005051	0.005435	0.000000	0.000000	0.017241	0.018293	0.034091	0.08333	649.83	37	chr7	128677743	.	C	T	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.163;DP=239;ExcessHet=0;FS=8.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.558;SOR=1.938	GT:AD:DP:GQ:PL	0/1:27,26:53:99:660,0,689	5	0	1	0
chr7	129203555	129203555	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G503A:p.R168H	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	430	1061	29	2	0	33	0.0153132	.	.	.	139005	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0021	0.00958466	0.0095	0.0004	0.0013	0	0.0002	0.0032	0.0158	0.0532	0.0069339	1072	154602	rs61746143	0.0047	0.0047	0.0032	0.0061	0.0462	0.0046	0.0045	0.0450	0.0445	0.0005	0.0017	0.0053	0	0.0006	0.0153	0.0020	0.0048	0.0462	0.0030	0.0030	0.0022	0.0038	0.0458	0.0028	0.0027	0.0408	0.0389	0.0002	0	0.0023	0.0078	0.0004	0	0.0068	0.0024	0.0014	0.0458	0.007	0.59928	D	0.018	0.59732	D	0.768	0.43819	P	0.372	0.43610	B	0.000012	0.62929	D	0.099149	0.954403	0.37876	D	1.64	0.41913	L	-1.34	0.79944	T	-3.08	0.63323	D	0.36	0.40164	-0.2252	0.77013	T	0.322	0.69056	T	10	0.017337203	0.00370	T	.	.	.	0.426	0.73372	.	.	0.856339808068	0.85495	0.4635699264073164	0.46275	1.68521837868	0.90051	0.456530988216	0.32835	T	0.787159	0.94435	D	-0.362033	0.04016	T	-0.260677	0.48757	T	0.0523352547188831	0.05905	T	0.89581	0.63671	D	0.26048836	0.49105	0.115611814	0.27908	0.3058411	0.53423	0.115611814	0.27907	-6.068	0.46844	T	.	.	0.094	0.14293	B	.	.	5.101587	0.85237	28.5	0.99953317081244297	0.99957	0.66007	0.32930	D	AEFDBI	0.238549	0.36065	N	0.434301182156193	0.63319	4.563295	0.492786399810357	0.67511	5.093808	0.999239072247611	0.38840	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	4.43	0.52967	5.280000	0.65411	8.352000	0.77014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.181:0.0:0.819:0.0	8.401	0.31747	714	0.56256	Frizzled domain|Frizzled domain|Frizzled 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	0.009119	0.010309	0.002717	0.011834	0.000000	0.000000	0.006173	0.026515	0.08333	719.83	34	chr7	129203555	.	G	A	719.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.262;DP=231;ExcessHet=0;FS=2.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.402;SOR=0.302	GT:AD:DP:GQ:PL	0/1:19,27:46:99:730,0,556	5	0	1	0
chr7	134536754	134536754	T	G	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon5:c.T534G:p.Y178X	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0005	0	8.639e-05	0	0.0002	0.0002	0	0.0023	0.0004269	66	154602	rs150738610	0.0003	0.0003	0.0002	0.0005	0.0036	0.0003	0.0003	0.0031	0.0029	0	0.0002	3.827e-05	0	3.744e-05	0.0036	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000427	0.44522	D	0.236906	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176159	0.71689	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.092638	0.96132	35	0.9908041505210391	0.51954	0.69411	0.34177	D	AEFCI	0.310110	0.41622	N	-0.018785366680861	0.41006	2.445101	-0.288767321328559	0.28467	1.587499	0.999905019883353	0.45458	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.68	-3.56	0.04330	0.007000	0.13074	-5.727000	0.01616	-0.234000	0.07639	0.921000	0.31989	0.000000	0.08366	0.996000	0.76049	0.0:0.7532:0.0:0.2468	14.435	0.66849	822	0.40702	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	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	0.001775	0.000000	0.001366	0.000000	0.000000	0.000000	0.003623	0.004237	0.08333	1220.83	33	chr7	134536754	.	T	G	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=290;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-0.356;QD=14.36;ReadPosRankSum=-1.447;SOR=0.761	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1231,0,1018	5	0	1	0
chr7	141919054	141919054	T	C	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.T179C:p.F60S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00327194008206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286817106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-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	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.762	0.56524	P	.	.	.	.	0.831947	0.28748	N	2.96	0.85114	M	6.62	0.00515	T	-7.06	0.93879	D	0.382	0.42345	-1.1060	0.03437	T	0.006	0.02168	T	9	0.6451462	0.69283	D	0.003272	0.07237	T	0.179	0.44899	0.577	0.70217	0.610979500378	0.60784	0.2988721825737309	0.29800	0.333137343093	0.35351	0.248419106007	0.03603	T	0.034775	0.23458	T	-0.0229301	0.48434	T	-0.270714	0.47747	T	0.981489956378937	0.73938	D	0.790621	0.43132	T	0.37908354	0.59250	0.63010573	0.78424	0.37908354	0.59250	0.63010573	0.78425	-8.572	0.64904	D	.	.	0.340	0.55909	B	.;.	.;.	3.694538	0.52654	23.3	0.99828666610906613	0.91026	0.98086	0.79479	D	AEFI	0.574962	0.57754	D	0.460857301675108	0.64823	4.745556	0.317124283775484	0.56546	3.81803	0.379782192425482	0.19950	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	3.88	0.43959	3.546000	0.53409	.	.	0.654000	0.53741	0.981000	0.35396	1.000000	0.68203	0.035000	0.13729	0.0:0.0:0.0:1.0	10.985	0.46733	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1542.83	35	chr7	141919054	.	T	C	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.138;DP=311;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.253;SOR=0.582	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1553,0,1683	5	0	1	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q,TMEM139:NM_153345:exon2:c.G245A:p.R82Q,TMEM139:NM_001242773:exon3:c.G245A:p.R82Q,TMEM139:NM_001242775:exon3:c.G245A:p.R82Q,TMEM139:NM_001282877:exon3:c.G245A:p.R82Q,TMEM139:NM_001242774:exon4:c.G245A:p.R82Q	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	.	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	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	0.007553	0.005051	0.009511	0.008772	0.000000	0.008621	0.012195	0.003788	0.08333	289.83	35	chr7	143286202	.	G	A	289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.352;DP=218;ExcessHet=0;FS=3.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=1.76;SOR=0.283	GT:AD:DP:GQ:PL	0/1:24,14:38:99:300,0,627	5	0	1	0
chr7	149006052	149006052	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon8:c.G1136T:p.G379V,PDIA4:NM_001371245:exon8:c.G1064T:p.G355V,PDIA4:NM_004911:exon8:c.G1133T:p.G378V	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00913991251055	.	.	0.0004	0	0	0	0	0.0002	0.0067	0.0018	0.000304	47	154602	rs374904189	0.0001	0.0001	7.077e-05	0.0002	0.0010	0.0001	9.894e-05	0.0008	0.0007	0	0	0	0	3.809e-05	0.0002	6.232e-05	0.0004	0.0010	5.913e-05	5.91e-05	5.137e-05	6.725e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.879e-05	0.0005	0.0008	0.088	0.32296	T	0.069	0.43913	T	0.011	0.15914	B	0.005	0.11217	B	0.047296	0.23358	N	0.489229	0.999824	0.49512	D	1.195	0.30194	L	2.17	0.19020	T	-3.02	0.62630	D	0.316	0.35620	-1.0827	0.06833	T	0.038	0.16333	T	10	0.02521503	0.00723	T	0.00914	0.24036	T	0.027	0.05988	0.345	0.33950	0.389283895039	0.38539	.	.	0.105681853306	0.11943	0.254233837128	0.04227	T	0.09834	0.40207	T	-0.533994	0.00364	T	-0.5752	0.14976	T	0.0215518811329841	0.00859	T	0.585341	0.21331	T	0.13728964	0.31794	0.14012216	0.33410	0.13728964	0.31794	0.14012216	0.33409	-6.262	0.48421	T	.	.	.	.	.	.	.	1.223842	0.16181	12.37	0.80368516223857656	0.13170	0.63720	0.32177	D	ALL	0.817578	0.73903	D	-0.519934542841312	0.21435	1.137588	-0.485862399280656	0.22542	1.224898	0.999999999998743	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.11	1.76	0.23776	1.165000	0.31432	-1.179000	0.06102	0.599000	0.40250	0.966000	0.33990	0.000000	0.08366	0.210000	0.22183	0.0:0.3486:0.0:0.6514	5.722	0.17264	884	0.28482	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	447.83	35	chr7	149006052	.	C	A	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=219;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.93;SOR=0.384	GT:AD:DP:GQ:PL	0/1:24,18:42:99:458,0,699	5	0	1	0
chr7	149765079	149765079	C	T	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1423A:p.V475I	.	425	1061	34	2	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00139776	0.0049	0.0015	0.0114	0	0	0.0099	0	0.0016	0.0017982	278	154602	rs200292588	0.0052	0.0049	0.0052	0.0051	0.0133	0.0050	0.0050	0.0108	0.0098	0.0017	0.0039	0.0049	3.083e-05	0.0003	0.0133	0.0058	0.0054	0.0016	0.0036	0.0036	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0035	0.0081	0	0.0007	0.0274	0.0058	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.124	0.26825	B	0.037	0.23121	B	0.141921	0.18261	U	0.290048	1	0.20048	N	-0.05	0.04954	N	2.48	0.14657	T	-0.08	0.08187	N	0.036	0.01068	-0.9619	0.38819	T	0.015	0.05849	T	10	0.0051863194	0.00113	T	.	.	.	0.028	0.06331	.	.	0.110078149338	0.10416	0.12038871058306477	0.11965	0.90605360512	0.70852	0.896112501621	0.95997	D	0.002422	0.01816	T	-0.710448	0.00032	T	-0.790813	0.02142	T	0.0120901311861236	0.00192	T	0.452755	0.12846	T	0.02658357	0.01734	0.05044717	0.07918	0.02658357	0.01734	0.05044717	0.07917	-5.618	0.42956	T	.	.	0.161	0.35643	B	.	.	1.442480	0.18620	13.84	0.97761160531471991	0.35807	0.05583	0.11485	N	AEFDBHCI	0.075218	0.15099	N	-0.867315500954441	0.11627	0.5620979	-0.751374697420605	0.15689	0.8263525	0.999999362224792	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	3.82	2.94	0.33188	-0.181000	0.09734	3.219000	0.36843	-0.193000	0.09282	0.000000	0.06391	0.282000	0.24114	0.046000	0.14843	0.0:0.8983:0.0:0.1017	10.110	0.41728	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.012605	0.011494	0.015449	0.012121	0.000000	0.000000	0.025806	0.000000	0.08333	180.83	39	chr7	149765079	.	C	T	180.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.428;DP=179;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=1.07;SOR=0.368	GT:AD:DP:GQ:PL	0/1:12,9:21:99:191,0,329	5	0	1	0
chr7	149892335	149892335	A	G	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon3:c.T173C:p.V58A,ACTR3C:NM_001351028:exon8:c.T143C:p.V48A	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs200817159	0.0049	0.0049	0.0034	0.0063	0.0519	0.0048	0.0047	0.0507	0.0501	0.0003	0.0012	0.0002	5.08e-05	0.0002	0.0092	0.0020	0.0048	0.0519	0.0031	0.0031	0.0025	0.0038	0.0538	0.0029	0.0028	0.0483	0.0461	0.0008	0	0.0026	0	0	0	0.0035	0.0020	0.0049	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1180.83	97	chr7	149892335	.	A	G	1180.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.79;DP=532;ExcessHet=0;FS=1.528;MLEAC=1;MLEAF=0.083;MQ=53.66;MQRankSum=-0.712;QD=10.45;ReadPosRankSum=-0.21;SOR=0.551	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1191,0,1724	5	0	1	0
chr7	152002716	152002716	G	A	exonic	GALNTL5	.	nonsynonymous SNV	GALNTL5:NM_145292:exon6:c.G661A:p.D221N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0480302560697	7.7e-05	.	1.653e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs151275982	6.157e-06	6.156e-06	5.445e-06	6.876e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	0.994	0.66517	D	0.918	0.65394	D	0.004466	0.33710	N	0.135832	0.998	0.44028	D	3.17	0.88688	M	-0.21	0.66294	T	-3.4	0.67014	D	0.372	0.41360	-0.0937	0.80243	T	0.445	0.78185	T	10	0.41683343	0.56598	T	0.04803	0.63188	D	0.415	0.72555	.	.	0.767558170736	0.76543	0.3625019771762731	0.36164	0.0974379367118	0.11007	0.397118419409	0.24667	T	0.024661	0.18589	T	-0.0960551	0.37078	T	-0.312107	0.43432	T	0.944168746471405	0.62005	D	0.863414	0.55914	D	0.43155634	0.62854	0.4212321	0.66061	0.43155634	0.62854	0.4212321	0.66062	-6.208	0.47988	T	.	.	0.093	0.14201	B	.;.;.	.;.;.	4.289576	0.65412	24.8	0.9989808959285158	0.97048	0.88919	0.49085	D	AEFBI	0.400900	0.47561	N	0.713691542775593	0.80529	7.314535	0.643932357158116	0.78160	6.820637	0.016388083691489	0.12825	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.83	4.83	0.61880	2.030000	0.40728	7.198000	0.57790	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.975000	0.56047	0.0987:0.1876:0.7137:0.0	6.478	0.21244	643	0.63827	Glycosyltransferase 2-like;Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	503.83	34	chr7	152002716	.	G	A	503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.323;DP=218;ExcessHet=0;FS=3.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.844;SOR=0.188	GT:AD:DP:GQ:PL	0/1:24,19:43:99:514,0,817	5	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,63:185:99:.:.:1219,0,4202:.	0	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	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	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.1667	79.06	49	chr7	152235831	.	C	G	79.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.48;DP=331;ExcessHet=0.4139;FS=19.603;MLEAC=2;MLEAF=0.167;MQ=50.95;MQRankSum=-2.334;QD=0.64;ReadPosRankSum=-1.322;SOR=2.81	GT:AD:DP:GQ:PL	0/1:46,8:54:66:66,0,1776	4	0	2	0
chr8	1668406	1668406	A	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon9:c.A1888T:p.T630S	.	418	1098	6	0	0	6	0.0027248	.	.	.	2337886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0219923309443	8.1e-05	.	0.0006	0	0.0002	0	0	0.0010	0	0.0003	0.0002975	46	154602	rs377576966	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	3.018e-05	0.0001	0.0017	5.133e-05	0	0.0012	0.0003	0.0004	0.0002	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.424e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0010	0.0004	.	.	.	0.021	0.58089	D	0.749	0.43231	P	0.257	0.39298	B	0.000000	0.84330	D	0.043664	0.999457	0.47118	D	3.31	0.90591	M	.	.	.	.	.	.	0.742	0.74189	-0.1388	0.79195	T	0.426	0.76930	T	10	0.060617	0.07474	T	0.021992	0.44830	T	0.256	0.56694	.	.	0.355511061997	0.35164	0.35805920735082397	0.35719	0.214803422188	0.24017	0.823596179485	0.85580	D	0.341799	0.82878	T	-0.262411	0.12619	T	-0.294702	0.45282	T	0.177487890575197	0.19075	T	0.949405	0.80515	D	0.32659137	0.55190	0.3373146	0.59523	0.32659137	0.55190	0.3373146	0.59522	-9.617	0.71585	D	.	.	0.479	0.68048	A	.;.;.	.;.;.	4.239153	0.64256	24.7	0.99607651619720983	0.74634	0.98404	0.82430	D	AEFDBI	0.816839	0.73847	D	0.508025941219022	0.67563	5.098398	0.55107998785456	0.71471	5.660089	0.999999645250006	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.793000	0.74917	7.493000	0.59393	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.655	0.76884	964	0.07719	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	918.83	33	chr8	1668406	.	A	T	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.108;DP=283;ExcessHet=0;FS=6.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-2.17;SOR=1.347	GT:AD:DP:GQ:PL	0/1:56,41:97:99:929,0,1407	5	0	1	0
chr8	3106536	3106536	G	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon46:c.C6941G:p.T2314R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.022129989045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.089	0.48855	T	0.549	0.38101	P	0.322	0.41795	B	0.010892	0.29744	N	0.300687	1	0.08975	N	.	.	.	-0.14	0.65006	T	-3.22	0.66436	D	0.524	0.58543	-0.9387	0.42822	T	0.166	0.50405	T	10	0.40573835	0.55879	T	0.02213	0.44986	T	0.218	0.51265	0.547	0.66156	0.407632638399	0.40377	0.4008383888407469	0.39998	.	.	0.342022061348	0.16740	T	0.045794	0.27287	T	-0.0817816	0.39425	T	-0.35525	0.38603	T	0.586394906044006	0.35865	D	0.89611	0.63771	D	0.1111617	0.26270	0.1867523	0.41866	0.1111617	0.26270	0.1867523	0.41865	-5.456	0.41455	T	.	.	0.085	0.10208	B	.;.;.;.;.;.	.;.;.;.;.;.	3.231397	0.44070	21.9	0.82965572456449177	0.14469	0.19263	0.20592	N	AEFI	0.259012	0.37744	N	-0.445717779790239	0.23886	1.285847	-0.46036687722603	0.23255	1.267256	0.0834183564291608	0.15927	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	1.449000	0.34734	1.514000	0.27045	-0.108000	0.15293	0.003000	0.16062	0.002000	0.18203	0.011000	0.09372	0.1256:0.0:0.721:0.1535	7.088	0.24444	940	0.13648	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;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;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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	822.83	40	chr8	3106536	.	G	C	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.369;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.494;SOR=0.578	GT:AD:DP:GQ:PL	0/1:16,31:47:99:833,0,381	5	0	1	0
chr8	3107796	3107796	A	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon45:c.T6757C:p.F2253L	.	.	.	.	.	.	.	.	.	.	.	751102	CSMD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.291	0.0321387943421	0.0008	0.00119808	0.0003	0.0037	0.0002	0	0	0	0	0	0.0002846	44	154602	rs182371880	8.119e-05	8.757e-05	8.3e-05	7.937e-05	0.0030	6.88e-05	6.4e-05	0.0025	0.0023	0.0030	0.0004	0	0	0	0.0002	0	0.0002	0	0.0008	0.0008	0.0008	0.0009	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0004	0	0	0	0	0	0.0005	0	0.016	0.61437	D	0.004	0.74150	D	0.969	0.56768	D	0.914	0.64984	D	0.000033	0.55875	D	0.074160	0.99993	0.51612	D	.	.	.	0.27	0.59176	T	-3.52	0.69950	D	0.359	0.46649	-0.9106	0.46781	T	0.162	0.49715	T	10	0.011229485	0.00246	T	0.032139	0.54044	D	0.291	0.61040	0.485	0.56780	0.498830998431	0.49518	0.4446479742133524	0.44382	.	.	0.685541927814	0.65065	T	0.097682	0.40382	T	-0.345302	0.05030	T	-0.270885	0.47730	T	0.0896929089962171	0.11181	T	0.919908	0.72788	D	0.45935628	0.64631	0.38398314	0.63349	0.45935628	0.64631	0.38398314	0.63349	-13.885	0.92677	D	.	.	0.956	0.87601	P	.;.;.;.;.;.	.;.;.;.;.;.	4.538755	0.71321	25.7	0.99466377463415001	0.66102	0.97359	0.74250	D	AEFBCIJ	0.918636	0.88799	D	0.463789021320719	0.64990	4.766451	0.455373025718303	0.65062	4.776538	0.999999999574311	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.11	5.11	0.69188	8.268000	0.89807	11.015000	0.84894	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	1.0:0.0:0.0:0.0	14.890	0.70240	940	0.13648	CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB 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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2890.83	40	chr8	3107796	.	A	G	2890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.453;DP=403;ExcessHet=0;FS=3.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.03;SOR=0.479	GT:AD:DP:GQ:PL	0/1:85,112:197:99:2901,0,2151	5	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1500.83	38	chr8	6445112	.	G	A	1500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=304;ExcessHet=0;FS=2.38;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.639;SOR=0.501	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1511,0,1320	5	0	1	0
chr8	11838472	11838472	A	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287756:exon5:c.A616G:p.N206D,FDFT1:NM_001287750:exon7:c.A1294G:p.N432D,FDFT1:NM_001287751:exon7:c.A862G:p.N288D,FDFT1:NM_001287744:exon8:c.A925G:p.N309D,FDFT1:NM_001287747:exon8:c.A925G:p.N309D,FDFT1:NM_001287748:exon8:c.A925G:p.N309D,FDFT1:NM_001287749:exon8:c.A925G:p.N309D,FDFT1:NM_004462:exon8:c.A1117G:p.N373D,FDFT1:NM_001287743:exon9:c.A1117G:p.N373D,FDFT1:NM_001287745:exon9:c.A925G:p.N309D,FDFT1:NM_001287742:exon10:c.A1117G:p.N373D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00642284844805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373133591	6.875e-07	6.84e-07	0	1.384e-06	9.028e-07	0	0	.	.	0	0	0	0	0	0	9.028e-07	0	0	6.574e-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	0.14	0.25664	T	0.455	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.865157	0.07140	N	1.052520	0.999997	0.18878	N	0.345	0.11182	N	1.57	0.41750	T	-0.34	0.17417	N	0.075	0.10626	-1.0193	0.23943	T	0.060	0.25163	T	10	0.048363864	0.04276	T	0.006423	0.16899	T	0.025	0.05312	0.247	0.18293	0.144782658237	0.14088	0.2333710558690042	0.23252	.	.	0.281569838524	0.07712	T	0.185689	0.53874	T	-0.342449	0.05221	T	-0.729681	0.04342	T	0.0310740702048689	0.02158	T	0.678032	0.28700	T	0.059218846	0.12008	0.051983092	0.08476	0.059218846	0.12007	0.051983092	0.08475	-3.271	0.15835	T	.	.	0.063	0.01884	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.837901	0.23349	15.98	0.96820111452851043	0.31221	0.39731	0.26278	N	AEFBHCI	0.432608	0.49441	N	-0.992421475490481	0.08764	0.4122215	-0.906247847177337	0.11947	0.6117188	0.999918202002774	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	3.12	0.34986	0.617000	0.24053	.	.	-0.122000	0.13826	0.004000	0.16614	0.998000	0.33993	0.848000	0.40082	0.6939:0.0:0.3061:0.0	8.013	0.29526	970	0.06235	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2283.83	42	chr8	11838472	.	A	G	2283.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.224;DP=425;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.23;SOR=0.714	GT:AD:DP:GQ:PL	0/1:128,99:227:99:2294,0,3148	5	0	1	0
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2710.75	.	chr8	12132989	.	C	T	2710.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.225;DP=776;ExcessHet=0;FS=2.501;MLEAC=1;MLEAF=0.1;MQ=51.86;MQRankSum=-5.133;QD=14.19;ReadPosRankSum=-1.062;SOR=0.518	GT:AD:DP:GQ:PL	0/1:92,99:191:99:2720,0,2667	4	0	1	1
chr8	17874493	17874493	A	T	exonic	FGL1	.	stopgain	FGL1:NM_004467:exon4:c.T273A:p.Y91X,FGL1:NM_147203:exon4:c.T273A:p.Y91X,FGL1:NM_201552:exon5:c.T273A:p.Y91X,FGL1:NM_201553:exon5:c.T273A:p.Y91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.267e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs773110889	4.803e-06	4.788e-06	5.46e-06	4.14e-06	6.305e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.305e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512635	0.11828	N	0.797812	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.743	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357448	0.87056	D	0.275673	0.86888	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High;High;High	7.575720	0.96655	36	0.99074377898242949	0.51810	0.08034	0.14010	N	AEFBI	0.359716	0.44994	N	-0.118529932708923	0.36587	2.116765	-0.477677614269446	0.22769	1.238404	0.222722463866124	0.18374	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.36	-2.9	0.05310	0.162000	0.16318	1.734000	0.28349	0.756000	0.94297	0.010000	0.18352	0.994000	0.32194	0.813000	0.38311	0.458:0.0:0.5419:0.0	13.263	0.59548	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	808.83	35	chr8	17874493	.	A	T	808.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=224;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.714;SOR=0.973	GT:AD:DP:GQ:PL	0/1:27,29:56:99:819,0,719	5	0	1	0
chr8	21909720	21909720	G	A	exonic	DOK2	.	nonsynonymous SNV	DOK2:NM_001317800:exon3:c.C368T:p.S123L,DOK2:NM_201349:exon4:c.C368T:p.S123L,DOK2:NM_003974:exon5:c.C830T:p.S277L	.	421	1097	4	0	0	4	0.00181984	.	.	.	2436647	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0367037663758	.	.	0.0001	0	0	0	0	3.015e-05	0.0011	0.0007	3.84e-05	1	26028	rs779927750	0.0001	0.0001	9.806e-05	0.0001	0.0014	0.0001	9.971e-05	0.0007	0.0006	0	4.473e-05	0	0	0	0.0014	7.194e-05	0.0002	0.0009	3.282e-05	3.28e-05	0	6.712e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.409e-05	0	0.0002	0.035	0.43708	D	0.116	0.47336	T	0.028	0.19712	B	0.006	0.12133	B	0.033392	0.24904	N	0.382752	0.896362	0.30259	N	2.175	0.60977	M	1.87	0.45636	T	-2.41	0.52938	N	0.088	0.06587	-0.8601	0.51256	T	0.131	0.44108	T	10	0.06895843	0.09826	T	0.036704	0.57161	D	0.090	0.26093	0.245	0.17984	0.663891511034	0.66106	0.3743292025830164	0.37346	0.041373833253	0.04440	0.532435894012	0.43378	T	0.29326	0.66596	T	-0.47136	0.00833	T	-0.554058	0.16939	T	0.0515422783792019	0.05769	T	0.779122	0.41282	T	0.08820024	0.20567	0.08435696	0.19400	0.08820024	0.20567	0.08435696	0.19400	-2.387	0.05053	T	.	.	0.135	0.36214	B	.;.	.;.	3.531891	0.49562	22.8	0.98706515243087478	0.44982	0.57984	0.30520	D	AEFDBHCI	0.282455	0.39578	N	-0.196242130849216	0.33291	1.887019	-0.146097606025094	0.33558	1.920882	0.999999999995611	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.42	4.55	0.55429	1.470000	0.34963	9.934000	0.82603	0.676000	0.76740	0.199000	0.24297	1.000000	0.68203	0.098000	0.18187	0.0859:0.0:0.9141:0.0	11.742	0.51066	774	0.48577	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	866.83	35	chr8	21909720	.	G	A	866.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.879;DP=267;ExcessHet=0;FS=8.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.758;SOR=2.007	GT:AD:DP:GQ:PL	0/1:23,28:51:99:877,0,627	5	0	1	0
chr8	22034509	22034509	-	A	splicing	NPM2	NM_001286680:exon8:c.532-1->A;NM_001286681:exon6:c.365-1->A;NM_182795:exon7:c.532-1->A	.	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	4.51e-05	0.0011	0.0006	0.00011	17	154602	rs770540772	0.0001	0.0004	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	6.043e-05	4.585e-05	7.702e-05	2.522e-05	0	0.0014	9.745e-05	0.0002	0.0007	4.614e-05	5.259e-05	2.577e-05	6.747e-05	0.0002	2.115e-05	1.531e-05	1.174e-05	6.26e-06	4.832e-05	0	0	0	0.0002	0	0	4.423e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	406.79	34	chr8	22034509	.	G	GA	406.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.782;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.215;SOR=0.784	GT:AD:DP:GQ:PL	0/1:17,18:35:99:417,0,406	5	0	1	0
chr8	30132316	30132316	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon3:c.G935A:p.R312Q	.	432	1069	21	0	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0011	0.00259585	0.0062	0	0.0024	0	0.0012	0.0026	0.0041	0.0135	0.0010931	169	154602	rs147712548	0.0020	0.0019	0.0016	0.0025	0.0146	0.0019	0.0019	0.0139	0.0136	0.0002	0.0010	0.0024	0	0.0008	0.0070	0.0012	0.0024	0.0146	0.0014	0.0014	0.0012	0.0016	0.0145	0.0012	0.0012	0.0118	0.0108	9.621e-05	0	0.0018	0.0035	0	0.0006	0	0.0013	0.0019	0.0145	0.697	0.04213	T	0.616	0.07543	T	0.027	0.19556	B	0.012	0.16012	B	0.261604	0.03712	N	1.604190	1	0.08975	N	0.29	0.10111	N	-0.71	0.72889	T	-0.34	0.12661	N	0.056	0.02759	-1.0408	0.17071	T	0.117	0.41341	T	9	0.006554872	0.00149	T	.	.	.	0.061	0.17616	.	.	0.374255764437	0.37033	0.3869578746534554	0.38610	.	.	0.213384717703	0.00963	T	0.059465	0.31122	T	-0.530605	0.00381	T	-0.523278	0.19964	T	0.00626107664933781	0.00069	T	0.488651	0.14976	T	0.024338823	0.01255	0.032818653	0.02076	0.024338823	0.01255	0.032818653	0.02076	-4.223	0.27083	T	.	.	0.070	0.03336	B	.	.	-0.738689	0.01234	0.063	0.86212942198657228	0.16386	0.01673	0.05349	N	AEFGBI	.	.	.	-1.31547530602023	0.03497	0.1563344	-1.34201333366928	0.03900	0.1829128	0.978163069639916	0.29893	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.16	-2.61	0.05811	-2.511000	0.01035	-3.773000	0.02547	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.2385:0.44:0.0:0.3215	4.624	0.11857	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	0	0	0	1	0	0	0	0.008621	0.005319	0.000000	0.000000	0.000000	0.000000	0.005882	0.051282	0.08333	2144.83	49	chr8	30132316	.	C	T	2144.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.15;DP=348;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.418;SOR=0.692	GT:AD:DP:GQ:PL	0/1:64,74:138:99:2155,0,1612	5	0	1	0
chr8	31080997	31080997	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.A970G:p.T324A	Werner syndrome, Autosomal recessive	1	1464	56	1	0	58	0.019424	.	.	YES	139188	Wiskott-Aldrich_syndrome|Werner_syndrome|not_specified|not_provided|Malignant_tumor_of_breast	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00505079907063	0.0030	0.00299521	0.0036	0.0008	0.0019	0.0006	0.0002	0.0037	0.0044	0.0091	0.0035252	545	154602	rs1800390	0.0034	0.0034	0.0032	0.0035	0.0168	0.0033	0.0033	0.0141	0.0131	0.0009	0.0027	0.0031	5.045e-05	0.0001	0.0168	0.0032	0.0043	0.0090	0.0027	0.0027	0.0024	0.0030	0.0085	0.0025	0.0024	0.0064	0.0057	0.0009	0	0.0033	0.0026	0.0002	0.0002	0.0068	0.0038	0.0038	0.0085	0.359	0.11957	T	0.432	0.13634	T	0.003	0.11197	B	0.004	0.10090	B	0.286245	0.03865	N	1.445540	1	0.08975	N	0.075	0.08292	N	1.0	0.41392	T	-0.85	0.23156	N	0.026	0.00527	-1.0313	0.20034	T	0.056	0.23753	T	10	0.0030954778	0.00051	T	0.005051	0.12784	T	0.018	0.03083	.	.	0.214338557667	0.21045	0.14327334679901807	0.14250	0.0637302715162	0.07097	0.230082198977	0.01974	T	0.102429	0.41014	T	-0.67586	0.00051	T	-0.737063	0.04015	T	0.00531589299191147	0.00057	T	0.305869	0.05863	T	0.022202376	0.00867	0.0239113	0.00404	0.022202376	0.00867	0.0239113	0.00404	-3.795	0.20730	T	.	.	0.064	0.01715	B	.	.	-1.003236	0.00766	0.024	0.55756443819337698	0.05409	0.01764	0.05543	N	AEFDBI	0.019684	0.00706	N	-1.35196350224658	0.03105	0.1381541	-1.4355450691311	0.02904	0.1344473	0.488924830504959	0.20846	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	-6.52	0.01703	-1.501000	0.02385	-1.533000	0.05227	-0.589000	0.04658	0.000000	0.06391	0.000000	0.08366	0.221000	0.22489	0.4115:0.0:0.4829:0.1056	9.139	0.36052	912	0.21483	.	.	.	.	.	.	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	0.015609	0.015152	0.013587	0.020468	0.000000	0.017241	0.009146	0.030303	0.1667	1652.06	33	chr8	31080997	.	A	G	1652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=262;ExcessHet=0.4139;FS=3.444;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.654;SOR=1.035	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1107,0,922	4	0	2	0
chr8	37835213	37835213	C	T	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon12:c.C1648T:p.P550S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	7.7e-05	0.00579073	0.0030	0.0002	0.0003	0	0	1.526e-05	0.0023	0.0211	0.0025873	400	154602	rs200624144	0.0013	0.0013	0.0007	0.0018	0.0200	0.0012	0.0012	0.0192	0.0189	0.0001	6.708e-05	0	2.519e-05	0	0.0005	9.892e-06	0.0018	0.0200	0.0009	0.0009	0.0005	0.0013	0.0270	0.0008	0.0007	0.0232	0.0218	7.218e-05	0	6.534e-05	0	0	0	0.0034	0	0	0.0270	0.22	0.18956	T	0.241	0.24334	T	0.506	0.37245	P	0.12	0.32230	B	0.001620	0.38497	N	0.219125	0.999107	0.81001	D	.	.	.	0.47	0.56114	T	-2.75	0.58407	D	0.737	0.73735	-0.9734	0.36474	T	0.134	0.44817	T	10	0.008160889	0.00185	T	.	.	.	0.083	0.24192	.	.	0.395894371353	0.39203	0.7590296466410396	0.75850	0.703163881875	0.61253	0.594106912613	0.52073	T	0.55147	0.84821	D	-0.39929	0.02340	T	-0.330073	0.41460	T	0.0227330802238697	0.00992	T	0.607439	0.22904	T	0.15712915	0.35422	0.15926391	0.37152	0.15712915	0.35422	0.15926391	0.37151	-9.977	0.73774	D	.	.	0.462	0.62786	A	.	.	3.830622	0.55368	23.6	0.99542247246413829	0.70586	0.87079	0.46512	D	AEFDBCI	0.546155	0.56037	D	0.124930273047473	0.47628	2.985836	0.257509888275316	0.53077	3.478588	0.999999868757477	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	2.589000	0.45810	5.968000	0.51946	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.635	0.91332	788	0.46569	.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	1079.83	40	chr8	37835213	.	C	T	1079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.698;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.845;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1090,0,927	5	0	1	0
chr8	38105674	38105674	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_004674:exon1:c.C124T:p.P42S	.	387	1126	9	0	0	9	0.00398054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0218130502301	7.7e-05	.	0.0002	0	9.094e-05	0	0	5.083e-05	0	0.0013	0.0001488	23	154602	rs367605367	7.031e-05	7.319e-05	4.702e-05	9.391e-05	0.0010	5.881e-05	5.486e-05	0.0005	0.0004	0	0.0004	4.103e-05	0	0	0.0010	1.726e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	8.665e-05	7.257e-05	0.0004	0.0003	2.412e-05	0	0.0007	0.0003	0	0	0	7.349e-05	0.0010	0.0002	0.075	0.41915	T	0.227	0.25362	T	0.075	0.24198	B	0.027	0.21085	B	0.340980	0.13964	N	0.710208	0.999383	0.46865	D	1.245	0.31408	L	-0.02	0.62918	T	-0.48	0.15379	N	0.114	0.10198	-0.9991	0.30171	T	0.138	0.45545	T	10	0.019585103	0.00439	T	0.021813	0.44628	T	0.039	0.10176	.	.	0.284112513307	0.28011	0.2041916935709072	0.20336	0.0113752822125	0.01063	0.542414963245	0.44786	T	0.116386	0.43569	T	-0.390668	0.02663	T	-0.420674	0.30999	T	0.0432792604497326	0.04289	T	0.671933	0.28057	T	0.057558633	0.11469	0.12123233	0.29251	0.057377696	0.11411	0.11232863	0.27102	-3.668	0.18847	T	.	.	0.058	0.05060	B	.;.	.;.	2.083031	0.26494	17.14	0.99858047024745122	0.93639	0.18120	0.20128	N	ALL	0.070839	0.14078	N	-0.71952635335122	0.15473	0.7801015	-0.689708336030547	0.17217	0.9145062	0.999999999999968	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.94	4.07	0.46726	1.286000	0.32877	0.163000	0.15428	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.006000	0.07323	0.0:0.9018:0.0:0.0982	9.597	0.38743	172	0.93355	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	213.83	34	chr8	38105674	.	C	T	213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.502;DP=143;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.572;SOR=0.743	GT:AD:DP:GQ:PL	0/1:6,9:15:99:224,0,137	5	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	65.07	156	chr8	39963621	.	A	G	65.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.13;DP=652;ExcessHet=0.4139;FS=103.292;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.81;SOR=8.862	GT:AD:DP:GQ:PL	0/1:89,18:107:20:20,0,1684	4	0	2	0
chr8	68108323	68108323	C	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_024870:exon24:c.C2930T:p.S977L	.	434	1040	45	3	0	51	0.0239324	.	.	.	723175	PREX2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0069	0.00419329	0.0059	0.0017	0.0039	0	0.0014	0.0090	0.0079	0.0025	0.0060931	942	154602	rs61753700	0.0073	0.0073	0.0072	0.0074	0.0320	0.0072	0.0072	0.0282	0.0267	0.0017	0.0057	0.0292	0	0.0007	0.0320	0.0078	0.0083	0.0027	0.0057	0.0057	0.0061	0.0053	0.0093	0.0054	0.0053	0.0080	0.0076	0.0013	0	0.0093	0.0254	0	0.0014	0.0272	0.0078	0.0113	0.0012	0.034	0.44029	D	0.705	0.05622	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.99748	0.22640	N	0	0.06538	N	1.29	0.35775	T	-1.05	0.27463	N	0.122	0.11340	-1.0365	0.18388	T	0.034	0.14726	T	9	0.0042907298	0.00086	T	.	.	.	0.033	0.08068	.	.	0.187945064343	0.18414	0.17599731828383275	0.17518	0.129204883604	0.14567	0.468185156584	0.34431	T	0.052767	0.29254	T	-0.610609	0.00125	T	-0.644747	0.09326	T	0.0118460378374581	0.00184	T	0.506149	0.16021	T	0.043264266	0.06712	0.07784652	0.17381	0.043264266	0.06712	0.07784652	0.17381	-3.919	0.22587	T	0.10005616733180377	0.07338	0.063	0.01449	B	.	.	1.298181	0.17000	12.90	0.99085105092494219	0.52075	0.72002	0.35260	D	AEFBI	0.163207	0.28946	N	-0.661565505330665	0.17123	0.8784968	-0.497489690309836	0.22223	1.205998	0.144898504644221	0.17340	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	2.76	0.31527	0.981000	0.29124	-0.000000	0.13247	-0.806000	0.03109	0.346000	0.25726	0.004000	0.18990	0.699000	0.34110	0.0:0.7417:0.1214:0.1368	9.068	0.35637	97	0.95994	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.030303	0.031250	0.026316	0.000000	0.025862	0.012195	0.007576	0.08333	395.83	42	chr8	68108323	.	C	T	395.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.842;DP=205;ExcessHet=0;FS=3.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.878;SOR=0.2	GT:AD:DP:GQ:PL	0/1:19,16:35:99:406,0,507	5	0	1	0
chr8	80486926	80486926	C	T	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.C116T:p.P39L,ZBTB10:NM_023929:exon1:c.C116T:p.P39L	.	.	.	.	.	.	.	.	.	.	.	3627624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.532215882642	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1441486338	1.843e-05	1.984e-05	1.89e-05	1.795e-05	0.0005	1.265e-05	1.069e-05	8.486e-05	3.535e-05	0	9.198e-05	0	3.166e-05	0	0.0005	1.503e-05	3.548e-05	1.318e-05	2.642e-05	2.628e-05	2.58e-05	2.706e-05	0.0001	8.17e-06	5.16e-06	2.267e-05	9.1e-06	0	0	0.0001	0	0	0	0	2.959e-05	0	0	0.0	0.91255	D	0.06	0.45744	T	0.001	0.09854	B	0.0	0.04355	B	.	.	.	.	0.595088	0.81001	D	0	0.06538	N	2.48	0.15608	T	-0.53	0.16393	N	0.126	0.17278	-1.0728	0.08808	T	0.024	0.10103	T	9	0.09013006	0.15674	T	0.532216	0.95605	D	0.058	0.16647	0.145	0.04843	0.043077524339	0.03247	0.15506763189132516	0.15427	0.761718942184	0.64298	0.874441027641	0.93197	D	0.005088	0.04527	T	-0.430848	0.01465	T	-0.703354	0.05645	T	0.169818031345385	0.18568	T	0.766923	0.39491	T	0.13550793	0.31448	0.12727728	0.30640	0.13550793	0.31447	0.12727728	0.30640	-4.276	0.27839	T	.	.	0.184	0.39932	B	.;.;.	.;.;.	3.819786	0.55149	23.6	0.99707882528440883	0.81143	0.38765	0.26062	N	AEFDBHCI	0.050746	0.08899	N	-0.570454759480828	0.19847	1.041927	-0.488682979485022	0.22464	1.220289	0.999999398523324	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.621717	0.48901	0	.	.	2.18	2.18	0.26813	-0.187000	0.09652	4.152000	0.42155	0.397000	0.20528	0.560000	0.27425	1.000000	0.68203	0.830000	0.39126	0.0:0.8423:0.0:0.1577	6.785	0.22850	858	0.34001	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	171.83	36	chr8	80486926	.	C	T	171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=157;ExcessHet=0;FS=1.527;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.37;ReadPosRankSum=-1.784;SOR=1.061	GT:AD:DP:GQ:PL	0/1:23,9:32:99:182,0,523	5	0	1	0
chr8	81671002	81671002	G	A	exonic	IMPA1	.	nonsynonymous SNV	IMPA1:NM_005536:exon7:c.C503T:p.T168I,IMPA1:NM_001144878:exon8:c.C680T:p.T227I	Mental retardation, autosomal recessive 59, Autosomal recessive	439	1072	9	2	0	13	0.00602689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0161915108403	0.0002	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0055	0.0007374	114	154602	rs148950764	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0041	0.0039	7.169e-05	0.0002	0	0	0	0.0048	0.0001	0.0005	0.0045	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.221e-05	0	0.0005	0	0	0	0	0.0003	0.0005	0.0025	0.003	0.68238	D	0.009	0.66756	D	0.088	0.25022	B	0.068	0.27651	B	0.201186	0.16596	N	0.625996	1	0.81001	D	1.165	0.29723	L	0.66	0.52416	T	-1.98	0.51478	N	0.237	0.26717	-1.0029	0.29080	T	0.094	0.35738	T	10	0.011553228	0.00252	T	0.016192	0.37323	T	0.036	0.09122	.	.	0.660644780661	0.65780	0.5545667876305154	0.55383	0.123502751491	0.13904	0.396727532148	0.24614	T	0.400385	0.75798	T	-0.459902	0.00985	T	-0.432578	0.29643	T	0.0409013131765717	0.03854	T	0.89811	0.64401	D	0.33410552	0.55805	0.24734825	0.50263	0.37741506	0.59129	0.23773234	0.49076	-3.084	0.14896	T	.	.	0.229	0.47986	B	.;.;.;.	.;.;.;.	3.005572	0.40175	21.1	0.99238177236615399	0.56437	0.74076	0.36233	D	AEFBI	0.359663	0.44991	N	-0.243995322399795	0.31343	1.756549	-0.166132050605109	0.32791	1.869139	0.170529903057637	0.17729	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.16	2.08	0.26079	1.605000	0.36426	4.939000	0.46195	0.606000	0.46413	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.4757:0.5243	11.306	0.48570	688	0.59122	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.25	1459.03	34	chr8	81671002	.	G	A	1459.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.748;DP=268;ExcessHet=1.383;FS=2.755;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.482;SOR=0.594	GT:AD:DP:GQ:PL	0/1:32,23:55:99:494,0,792	3	0	3	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	.	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	614.83	33	chr8	109452281	.	G	A	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=217;ExcessHet=0;FS=9.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.263;SOR=2.147	GT:AD:DP:GQ:PL	0/1:28,21:49:99:625,0,760	5	0	1	0
chr8	109454805	109454805	A	G	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon45:c.A6827G:p.Y2276C	.	435	1086	1	0	0	1	0.000460193	.	.	.	3460505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.877	0.0471301102648	.	.	1.66e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs761128271	1.095e-05	1.094e-05	1.498e-05	6.877e-06	4.473e-05	6.48e-06	5.25e-06	7.41e-06	5.03e-06	2.987e-05	4.473e-05	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.998181	0.44603	D	3.595	0.93690	H	-2.53	0.89430	D	-8.04	0.96594	D	0.959	0.96871	0.887	0.95501	D	0.844	0.94798	D	10	0.89361715	0.88710	D	0.04713	0.62778	D	0.877	0.96354	0.608	0.74063	0.421060224861	0.41726	0.8154547802882404	0.81501	0.252784853795	0.27842	0.783619105816	0.79474	T	0.594205	0.86900	D	0.324467	0.84785	D	0.404145	0.92247	D	0.99383956193924	0.84805	D	0.950205	0.80929	D	0.9035254	0.91701	0.92608064	0.96822	0.9035254	0.91702	0.92608064	0.96823	-12.721	0.88180	D	.	.	0.687	0.72413	P	.	.	4.858096	0.79476	27.1	0.99815917465838266	0.89885	0.96786	0.70931	D	AEFI	0.914848	0.87880	D	0.897101883769352	0.91616	10.97483	0.845920085612052	0.92776	11.62476	0.999998748545906	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.609000	0.82142	11.209000	0.89330	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.149	0.64902	685	0.59416	G8 domain|G8 domain|G8 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	.	.	.	.	.	.	.	.	0.08333	1872.83	34	chr8	109454805	.	A	G	1872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.039;DP=298;ExcessHet=0;FS=1.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.05;SOR=0.893	GT:AD:DP:GQ:PL	0/1:53,72:125:99:1883,0,1277	5	0	1	0
chr8	124076322	124076322	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon32:c.G4217A:p.G1406E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.0781053936767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.205	0.62170	M	-1.33	0.79854	T	-7.54	0.95160	D	0.874	0.87157	0.360	0.88494	D	0.659	0.88163	D	10	0.8942176	0.88772	D	0.078105	0.72926	D	0.823	0.94353	0.614	0.74768	0.52297913765	0.51942	0.6347747319034354	0.63411	0.608326245006	0.55607	0.774493932724	0.78097	T	0.552581	0.84877	D	0.398545	0.89830	D	0.334706	0.89703	D	0.999058067798615	0.96022	D	0.958004	0.84234	D	0.8952279	0.90960	0.9295668	0.97064	0.8952279	0.90962	0.9295668	0.97065	-15.128	0.96145	D	.	.	0.988	0.93122	P	.	.	5.187145	0.86985	29.1	0.99775916803840259	0.86346	0.99095	0.91152	D	AEFGBI	0.943317	0.94900	D	0.880089642326928	0.90750	10.54837	0.870765424647811	0.94170	12.55529	0.999999999712128	0.74766	0.516011	0.20929	0	0.588764	0.42986	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	10.003000	0.99689	11.756000	0.95519	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	19.702	0.96053	809	0.43032	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 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	.	.	.	.	.	.	.	.	0.08333	663.83	33	chr8	124076322	.	G	A	663.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.181;DP=215;ExcessHet=0;FS=4.461;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.298;SOR=0.836	GT:AD:DP:GQ:PL	0/1:17,26:43:99:674,0,441	5	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	207.59	102	chr8	132010871	.	G	C	207.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.486;DP=687;ExcessHet=1.383;FS=212.538;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.918;SOR=9.926	GT:AD:DP:GQ:PL	0/1:61,24:87:45:45,0,883	2	0	3	1
chr8	141218541	141218541	C	T	exonic	SLC45A4	.	nonsynonymous SNV	SLC45A4:NM_001080431:exon4:c.G946A:p.A316T,SLC45A4:NM_001286648:exon4:c.G946A:p.A316T,SLC45A4:NM_001286646:exon5:c.G1099A:p.A367T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0065088512367	0.0028	0.00239617	0.0007	0.0083	0.0003	0	0	1.525e-05	0	0	0.0006792	105	154602	rs61995887	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0051	0.0061	0.0004	0	0	0	0.0007	2.248e-05	0.0004	3.478e-05	0.0018	0.0018	0.0020	0.0017	0.0063	0.0016	0.0016	0.0057	0.0055	0.0063	0	0.0007	0	0	0	0	1.47e-05	0.0014	0	0.649	0.11550	T	0.461	0.14865	T	0.004	0.22733	B	0.002	0.11217	B	0.787986	0.06694	N	1.100310	1	0.08975	N	.	.	.	2.56	0.14038	T	-0.11	0.09297	N	0.103	0.18103	-0.9554	0.40024	T	0.012	0.04416	T	10	0.0038675368	0.00073	T	0.006509	0.17157	T	0.005	0.00259	.	.	0.0716867268079	0.06686	0.3290844275407139	0.32821	0.285314286895	0.30943	0.25253456831	0.04039	T	0.00568	0.05129	T	-0.713918	0.00030	T	-0.794125	0.02054	T	0.000909776049981543	0.00009	T	0.518148	0.20130	T	.	.	.	.	.	.	.	.	-3.728	0.19865	T	.	.	0.068	0.02733	B	.;.;.	.;.;.	-0.409064	0.02180	0.214	0.89589579351847326	0.18927	0.19582	0.20717	N	AEFBCI	0.037228	0.05088	N	-1.13845037847263	0.05972	0.2737019	-1.13034036551176	0.07126	0.3454565	0.991474477598644	0.32501	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.79	0.841	0.18052	0.158000	0.16239	-2.702000	0.03451	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.628:0.1174:0.2546	6.906	0.23489	963	0.08280	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	893.83	34	chr8	141218541	.	C	T	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=292;ExcessHet=0;FS=11.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.33;SOR=0.738	GT:AD:DP:GQ:PL	0/1:25,31:56:99:904,0,665	5	0	1	0
chr8	141218829	141218829	C	T	exonic	SLC45A4	.	nonsynonymous SNV	SLC45A4:NM_001080431:exon4:c.G658A:p.A220T,SLC45A4:NM_001286648:exon4:c.G658A:p.A220T,SLC45A4:NM_001286646:exon5:c.G811A:p.A271T	.	429	1092	0	1	0	2	0.000914913	.	.	.	2678161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00332730671169	.	.	5.011e-05	9.846e-05	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs756143827	2.875e-05	2.873e-05	2.452e-05	3.302e-05	0.0003	2.153e-05	1.909e-05	7.125e-05	5.483e-05	0	4.474e-05	0	2.519e-05	3.806e-05	0.0003	1.619e-05	9.938e-05	0.0001	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0004	1.714e-05	1.128e-05	7.296e-05	3.031e-05	4.81e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.684	0.06086	T	0.631	0.07173	T	0.002	0.23796	B	0.009	0.14941	B	0.000059	0.00414	N	2587.460000	1	0.08975	N	.	.	.	2.56	0.42502	T	0.31	0.04022	N	0.059	0.12055	-1.0938	0.04929	T	0.049	0.20711	T	10	0.041532874	0.02818	T	0.003327	0.07421	T	0.015	0.02232	0.334	0.32167	0.0716867268079	0.06686	0.20677370744863963	0.20593	0.283711145729	0.30804	0.334583342075	0.15625	T	0.003031	0.02432	T	-0.445652	0.01198	T	-0.618246	0.11323	T	0.0108366807014061	0.00154	T	0.517348	0.17685	T	.	.	.	.	.	.	.	.	-4.056	0.25614	T	.	.	0.066	0.02428	B	.;.;.;.	.;.;.;.	-0.259676	0.02800	0.384	0.76902183383641121	0.11656	0.30659	0.24139	N	AEFDGBCI	0.071585	0.14258	N	-1.2969088157518	0.03713	0.1663442	-1.33398367265784	0.03998	0.1876842	0.999837784482828	0.43792	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.09	-2.8	0.05477	-0.304000	0.08238	-0.446000	0.09129	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.148:0.357:0.2095:0.2856	1.002	0.01385	963	0.08280	.;.;.;.	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1292.83	34	chr8	141218829	.	C	T	1292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.82;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.463;SOR=0.682	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1303,0,986	5	0	1	0
chr8	142875830	142875830	T	C	exonic	CYP11B1	.	nonsynonymous SNV	CYP11B1:NM_000497:exon6:c.A1003G:p.N335D,CYP11B1:NM_001026213:exon6:c.A1003G:p.N335D	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Autosomal recessive;Aldosteronism, glucocorticoid-remediable, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	44641	not_specified|not_provided|Congenital_adrenal_hyperplasia|Glucocorticoid-remediable_aldosteronism|Deficiency_of_steroid_11-beta-monooxygenase	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.0026	0.00279553	0.0012	0.0115	0.0006	0.0002	0	0.0001	0.0011	0.0004	0.0011061	171	154602	rs61752766	0.0003	0.0004	0.0003	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0004	0	0.0001	1.873e-05	0	4.946e-05	0.0005	0.0002	0.0023	0.0024	0.0023	0.0022	0.0076	0.0021	0.0020	0.0070	0.0067	0.0076	0	0.0016	0	0.0002	0.0002	0	2.942e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.116882	0.02690	N	1.897250	1	0.08975	N	-1.655	0.00384	N	-0.08	0.63911	T	1.4	0.00936	N	0.093	0.07262	-1.0021	0.29313	T	0.045	0.19437	T	10	0.012870431	0.00275	T	.	.	.	0.017	0.02790	.	.	0.480274617672	0.47656	0.6461935221990315	0.64554	0.0960441938547	0.10841	0.632202386856	0.57457	T	0.099966	0.40529	T	-0.642146	0.00081	T	-0.689625	0.06410	T	0.00139546130952381	0.00014	T	0.00360873	0.00039	T	0.11409973	0.26940	0.07639056	0.16913	0.1003987	0.23705	0.11643791	0.28108	0.161	0.00831	T	.	.	0.048	0.01428	B	.;.;.	.;.;.	-1.335472	0.00409	0.008	0.46723027083485563	0.03764	0.00113	0.00716	N	AEFDGBI	0.024334	0.01490	N	-1.80989377264299	0.00521	0.02244069	-1.74573194822372	0.00949	0.04250722	3.96880493378859E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.42	-0.977	0.09757	-1.543000	0.02298	-3.832000	0.02508	-4.761000	0.00021	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2528:0.497:0.0:0.2502	4.823	0.12766	987	0.02648	.;.;.	.	.	.	.	.	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	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1571.83	36	chr8	142875830	.	T	C	1571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=347;ExcessHet=0;FS=4.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.938;SOR=1.059	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1582,0,2030	5	0	1	0
chr8	142914761	142914761	A	G	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon4:c.T743C:p.I248T	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	711339	not_provided|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyl_oxidase_type_II_deficiency	MedGen:C3661900|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0491592199511	.	.	0.0004	0.0006	9.283e-05	0	0.0011	0.0005	0.0012	0	0.0016136	42	26028	rs4547	0.0009	0.0020	0.0010	0.0009	0.0086	0.0009	0.0009	0.0078	0.0075	0.0086	0.0019	0	7.557e-05	0.0012	0.0009	0.0007	0.0022	8.126e-05	0.0057	0.0069	0.0059	0.0055	0.0149	0.0054	0.0053	0.0139	0.0135	0.0149	0.0033	0.0042	0	0.0004	0.0014	0.0068	0.0025	0.0033	0.0002	0.556	0.06461	T	0.091	0.40110	T	0.0	0.02946	B	0.005	0.11217	B	0.756477	0.06515	N	1.139050	1	0.08975	N	-0.695	0.01866	N	-0.38	0.69027	T	0.74	0.02038	N	0.051	0.02272	-1.0278	0.21168	T	0.104	0.38144	T	10	0.0040483177	0.00079	T	0.049159	0.63689	D	0.032	0.07718	.	.	0.27132560031	0.26736	0.20737873784778507	0.20653	0.286842265143	0.31076	0.317195743322	0.12996	T	0.114507	0.43238	T	-0.592472	0.00162	T	-0.619816	0.11199	T	0.00299051845383322	0.00031	T	0.0984901	0.00732	T	0.19973059	0.41923	0.08223399	0.18752	0.19973059	0.41923	0.08223399	0.18752	-3.284	0.13532	T	.	.	0.073	0.04477	B	.	.	0.442760	0.08128	4.859	0.73437403192244166	0.10328	0.01019	0.03833	N	AEFDGBI	0.028360	0.02483	N	-1.33586310131483	0.03274	0.1459594	-1.30383715217491	0.04381	0.2064848	4.74470483388935E-4	0.07095	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.69	0.07747	0.144000	0.15956	0.072000	0.14274	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.755000	0.35964	0.5414:0.0:0.4586:0.0	8.683	0.33380	983	0.02875	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	160.83	75	chr8	142914761	.	A	G	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=337;ExcessHet=0;FS=4.786;MLEAC=1;MLEAF=0.083;MQ=47.56;MQRankSum=-4.293;QD=1.99;ReadPosRankSum=-1.269;SOR=1.163	GT:AD:DP:GQ:PL	0/1:70,11:81:99:171,0,1978	5	0	1	0
chr8	142917752	142917752	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G89A:p.R30Q	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	313479	not_provided|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_methyl_oxidase_type_II_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	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00199681	0.0011	0.0109	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0009961	154	154602	rs6441	0.0005	0.0005	0.0005	0.0004	0.0127	0.0005	0.0004	0.0117	0.0113	0.0127	0.0010	0	5.038e-05	0	0.0017	0.0001	0.0013	9.275e-05	0.0037	0.0037	0.0037	0.0038	0.0127	0.0035	0.0034	0.0118	0.0114	0.0127	0	0.0014	0	0.0002	0	0.0068	0.0001	0.0043	0	0.593	0.05755	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	0.080754	0.02351	U	2.457000	1	0.08975	N	-0.69	0.01958	N	-0.82	0.74053	T	-0.17	0.09627	N	0.031	0.00770	-0.9998	0.29973	T	0.086	0.33522	T	10	0.006872624	0.00156	T	.	.	.	0.113	0.31778	.	.	0.441949972293	0.43817	0.3279911864277752	0.32712	0.261723685699	0.28725	0.411951065063	0.26727	T	0.088526	0.38178	T	-0.611105	0.00125	T	-0.640198	0.09655	T	0.00150298370214804	0.00015	T	0.349965	0.07784	T	0.030228583	0.02650	0.03148591	0.01744	0.030228583	0.02649	0.03148591	0.01744	-3.734	0.19821	T	.	.	0.074	0.05274	B	.	.	-0.691650	0.01340	0.074	0.68884413144555334	0.08797	0.00390	0.01961	N	AEFDBI	0.016559	0.00380	N	-1.6700705384338	0.00953	0.04129815	-1.66122479467032	0.01319	0.05951107	1.27112602497627E-4	0.05386	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-1.82	0.07433	-0.288000	0.08412	0.588000	0.19789	-2.618000	0.00231	0.000000	0.06391	0.045000	0.21693	0.000000	0.00833	0.1936:0.2079:0.205:0.3935	0.354	0.00329	986	0.02773	.	.	.	.	.	.	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	1	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	2680.83	39	chr8	142917752	.	C	T	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=379;ExcessHet=0;FS=9.964;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.335;SOR=0.317	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2691,0,2095	5	0	1	0
chr8	143379503	143379503	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon8:c.G940A:p.A314T	.	418	1077	23	4	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.101666304702	0.0019	0.00179712	0.0048	0.0006	0.0033	0	0	0.0044	0.0066	0.0073	0.0018176	281	154602	rs199609984	0.0031	0.0031	0.0031	0.0032	0.0140	0.0030	0.0030	0.0113	0.0103	0.0009	0.0020	0.0001	2.782e-05	8.308e-05	0.0140	0.0033	0.0033	0.0048	0.0022	0.0022	0.0022	0.0022	0.0056	0.0020	0.0019	0.0039	0.0034	0.0008	0.0033	0.0039	0.0003	0	0	0.0204	0.0029	0.0028	0.0056	0.044	0.41096	D	0.113	0.36901	T	.	.	.	.	.	.	0.000004	0.62929	N	0.061048	0.999449	0.47080	D	2.93	0.84523	M	2.07	0.20387	T	-3.34	0.66325	D	0.364	0.40565	-1.0938	0.04929	T	0.062	0.25672	T	10	0.012050003	0.00261	T	0.101666	0.77468	D	0.127	0.34888	.	.	0.235664433957	0.23186	0.39779810247814446	0.39694	0.0755392110658	0.08479	0.558147668839	0.47006	T	0.159767	0.50334	T	-0.484472	0.00697	T	-0.468283	0.25702	T	0.045643406678797	0.04719	T	0.819918	0.47811	T	0.30405015	0.53266	0.31682783	0.57661	0.30405015	0.53266	0.31682783	0.57661	-7.704	0.59035	D	.	.	0.115	0.23041	B	.	.	3.532197	0.49562	22.8	0.99507392132967576	0.68381	0.32998	0.24722	N	AEFDGBCI	0.084361	0.17098	N	0.109763883042408	0.46917	2.924881	0.0379858628087101	0.41495	2.49388	0.999998653722359	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.28	3.38	0.37806	4.331000	0.59057	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0868:0.0:0.7625:0.1507	8.509	0.32367	976	0.04745	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	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	0.016163	0.000000	0.015193	0.020958	0.000000	0.063636	0.012739	0.011811	0.08333	587.83	37	chr8	143379503	.	G	A	587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.313;DP=219;ExcessHet=0;FS=3.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.263;SOR=1.358	GT:AD:DP:GQ:PL	0/1:15,22:37:99:598,0,365	5	0	1	0
chr8	143729191	143729191	C	T	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon3:c.G580A:p.D194N	Amelogenesis imperfecta, type III, Autosomal dominant	0	1517	4	0	1	5	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00530019816674	.	0.000199681	0.0002	0	8.643e-05	0	0	6.016e-05	0	0.0013	0.0001811	28	154602	rs573911470	9.717e-05	9.714e-05	5.447e-05	0.0001	0.0012	8.379e-05	7.918e-05	0.0010	0.0009	2.987e-05	6.708e-05	0	0	0	0.0012	2.248e-05	9.936e-05	0.0012	4.596e-05	4.593e-05	3.855e-05	5.372e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.486	0.08091	T	0.309	0.19782	T	0.282	0.32132	B	0.039	0.23607	B	0.329260	0.14141	N	0.693899	0.993524	0.23696	N	0.175	0.09039	N	2.57	0.13552	T	-1.79	0.42191	N	0.367	0.40864	-1.0047	0.28547	T	0.018	0.07706	T	10	0.021614105	0.00521	T	0.005	0.13556	T	0.111	0.31313	0.499	0.58991	0.043077524339	0.03247	0.6126121247954278	0.61193	0.512335266044	0.49279	0.46539413929	0.34049	T	0.006224	0.05657	T	-0.603375	0.00139	T	-0.685034	0.06681	T	0.0340536051066237	0.02646	T	.	.	.	0.15666044	0.35342	0.14352663	0.34107	0.15666044	0.35342	0.14352663	0.34106	-11.162	0.80539	D	.	.	0.118	0.24123	B	.	.	2.827754	0.37270	20.5	0.99543450482193874	0.70648	0.24956	0.22553	N	AEFDGBCI	0.167654	0.29434	N	-0.539342687134472	0.20819	1.100368	-0.406470671071873	0.24806	1.360527	0.999999538006824	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	5.11	5.11	0.69188	0.704000	0.25336	.	.	0.599000	0.40250	0.007000	0.17678	0.999000	0.35428	0.568000	0.30603	0.0:1.0:0.0:0.0	17.873	0.88730	884	0.28482	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1844.83	41	chr8	143729191	.	C	T	1844.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.32;DP=364;ExcessHet=0;FS=2.829;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.395;SOR=0.957	GT:AD:DP:GQ:PL	0/1:87,71:158:99:1855,0,2079	5	0	1	0
chr8	143869817	143869817	T	C	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.A3437G:p.D1146G	.	9	1498	15	0	0	15	0.00498173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0850123823838	.	0.000199681	0.0004	0	0	0	0	0.0002	0	0.0018	0.0002458	38	154602	rs550193229	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0013	0.0012	0	0	0.0016	0	0	0.0017	8.953e-05	0.0005	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.903e-05	2.409e-05	0	0.0001	0.0014	0	0	0	0.0002	0.0009	0.0006	.	.	.	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.559902	0.31265	N	1.935	0.51832	L	.	.	.	.	.	.	0.137	0.13484	-0.4737	0.69594	T	0.246	0.61448	T	9	0.020823896	0.00487	T	0.085012	0.74444	D	.	.	0.417	0.45709	0.539021108785	0.53553	0.5878565971503928	0.58715	.	.	0.358269631863	0.19133	T	0.238216	0.60607	T	-0.297333	0.08914	T	-0.240408	0.50758	T	0.0564648110523214	0.06600	T	0.470053	0.13899	T	0.2669983	0.49771	0.33755985	0.59545	0.2669983	0.49770	0.33755985	0.59544	-4.816	0.34777	T	.	.	0.188	0.40473	B	.;.	.;.	3.571259	0.50303	22.9	0.99142544217980011	0.53573	0.98563	0.84133	D	AEFDBI	0.510188	0.53934	D	0.0667623417616852	0.44917	2.757148	0.0752599690186802	0.43308	2.635281	0.999999999882575	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	1.530000	0.35613	.	.	0.651000	0.53179	0.946000	0.32893	0.998000	0.33993	0.942000	0.48361	0.0:0.0:0.0:1.0	11.848	0.51673	964	0.07719	.;.	.	.	.	.	.	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	0.002028	0.000000	0.002740	0.002941	0.000000	0.008621	0.000000	0.011364	0.08333	1013.83	62	chr8	143869817	.	T	C	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.22;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.56;SOR=0.715	GT:AD:DP:GQ:PL	0/1:23,36:59:99:1024,0,629	5	0	1	0
chr8	143984248	143984248	G	A	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon5:c.C1678T:p.R560C,PARP10:NM_032789:exon6:c.C1642T:p.R548C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0276891072692	.	.	8.274e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs781787443	1.642e-05	1.642e-05	1.634e-05	1.65e-05	1.619e-05	1.111e-05	9.34e-06	1.012e-05	8.35e-06	0	0	0.0001	0	1.874e-05	0	1.619e-05	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.019	0.59159	D	0.997	0.70673	D	0.841	0.60228	P	0.541068	0.11536	N	0.729179	0.999361	0.21303	N	2.045	0.56016	M	2.84	0.10674	T	-2.77	0.65397	D	0.344	0.38541	-1.0438	0.16177	T	0.039	0.16806	T	10	0.18438965	0.33811	T	0.027689	0.50469	D	0.072	0.21020	0.409	0.44395	0.530160902827	0.52664	0.40213413301546846	0.40129	0.53408203819	0.50830	0.2816619277	0.07725	T	0.031563	0.45255	T	-0.155806	0.27407	T	-0.446095	0.28129	T	0.699567437171936	0.40698	D	0.848015	0.52922	T	0.20674428	0.42859	0.11204782	0.27033	0.20674428	0.42859	0.11204782	0.27033	-6.896	0.53269	T	.	.	0.129	0.28750	B	.;.;.	.;.;.	4.813952	0.78345	26.9	0.99903379986973972	0.97502	0.47397	0.27974	N	AEFDGBI	0.200273	0.32702	N	0.186631276734946	0.50558	3.244585	0.176264894810778	0.48550	3.069395	0.99999866967667	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.21	3.28	0.36691	1.897000	0.39430	.	.	0.674000	0.70861	0.777000	0.29437	0.964000	0.29435	0.991000	0.66497	0.0:0.1788:0.8212:0.0	11.749	0.51108	970	0.06235	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1291.83	34	chr8	143984248	.	G	A	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.664;DP=260;ExcessHet=0;FS=4.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.823;SOR=0.477	GT:AD:DP:GQ:PL	0/1:28,50:78:99:1302,0,633	5	0	1	0
chr9	3225197	3225197	G	C	exonic	RFX3	.	nonsynonymous SNV	RFX3:NM_001282116:exon17:c.C2095G:p.L699V,RFX3:NM_001377999:exon18:c.C2158G:p.L720V,RFX3:NM_134428:exon18:c.C2095G:p.L699V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00835186018555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.822	0.03806	T	0.063	0.23376	B	0.026	0.20792	B	0.000016	0.62929	D	0.070275	0.824151	0.34820	D	0.785	0.19527	N	0.35	0.58029	T	-0.08	0.08187	N	0.212	0.23632	-1.0887	0.05752	T	0.076	0.30429	T	10	0.058725	0.06948	T	0.008352	0.22105	T	0.048	0.13305	0.178	0.08503	0.0675242888579	0.06100	0.22380602583561743	0.22295	0.20912996966	0.23382	0.619146466255	0.55609	T	0.116113	0.43520	T	-0.118134	0.33430	T	-0.407468	0.32517	T	0.315888404846191	0.25655	T	0.831217	0.49813	T	0.034553353	0.03900	0.04894143	0.07375	0.034553353	0.03900	0.04894143	0.07375	-2.571	0.06286	T	.	.	0.062	0.01491	B	.;.	.;.	3.827017	0.55292	23.6	0.91261780743241228	0.20520	0.93970	0.59723	D	AEFDI	0.561483	0.56946	D	-0.453433814525086	0.23624	1.269917	-0.238998041681517	0.30153	1.695272	0.971982173326987	0.29333	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.670209	0.66018	0	.	.	5.7	3.87	0.43823	4.265000	0.58663	6.760000	0.56533	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1384:0.0:0.7298:0.1318	7.869	0.28719	829	0.39537	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	473.83	35	chr9	3225197	.	G	C	473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.174;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.731;SOR=0.813	GT:AD:DP:GQ:PL	0/1:37,19:56:99:484,0,1056	5	0	1	0
chr9	5361077	5361077	C	T	splicing	PLGRKT	NM_018465:exon5:c.322+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.88e-07	4.804e-06	1.593e-06	0	1.061e-06	0	0	.	.	0	0	0	0	0	0	1.061e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445956	0.92298	D	0.402809	0.92203	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.244460	0.88051	29.5	0.99523063493214003	0.69346	0.95451	0.64773	D	AEFBI	.	.	.	1.11973412876572	0.98483	18.40675	0.965662740892542	0.97845	16.88146	0.999999999999253	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.078618	0.02440	0	0.092715	0.02821	0	0.981726	0.87622	5.62	5.62	0.85714	5.996000	0.70309	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:1.0:0.0:0.0	19.300	0.94129	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	48.83	36	chr9	5361077	.	C	T	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.205;DP=198;ExcessHet=0;FS=47.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.24;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:59:0|1:5361077_C_T:59,0,704:5361077	5	0	1	0
chr9	5361078	5361078	C	G	exonic	PLGRKT	.	nonsynonymous SNV	PLGRKT:NM_018465:exon5:c.G322C:p.G108R	.	.	.	.	.	.	.	.	0.6978	0.508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0269434286985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.125	0.35330	T	0.81	0.45366	P	0.361	0.43233	B	0.000006	0.62929	D	0.107097	0.994667	0.42368	D	2.65	0.77586	M	.	.	.	-1.28	0.32185	N	0.229	0.25745	-0.8169	0.54127	T	0.200	0.55625	T	8	0.22344047	0.39122	T	0.026943	0.49802	D	0.116	0.32463	0.372	0.38340	0.200317383148	0.19677	0.6948187419262146	0.69422	0.00371297511254	0.00321	0.415260434151	0.27183	T	0.016131	0.13395	T	-0.00531633	0.50918	T	-0.245413	0.50269	T	0.602801203727722	0.36511	D	0.889911	0.62289	D	0.060877305	0.12541	0.08912161	0.20822	0.060877305	0.12541	0.08912161	0.20821	-0.942	0.00937	T	.	.	0.134	0.29032	B	.	.	3.256464	0.44521	22.0	0.97827082792533704	0.36233	0.86257	0.45503	D	AEFBI	0.460789	0.51082	N	0.029802109406783	0.43214	2.618748	0.024762218448693	0.40868	2.446	0.99990049510247	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.62	2.79	0.31792	1.512000	0.35420	.	.	-0.864000	0.02607	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.699:0.0:0.301	9.092	0.35776	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	48.83	36	chr9	5361078	.	C	G	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.531;DP=207;ExcessHet=0;FS=47.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.27;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:59:0|1:5361077_C_T:59,0,704:5361077	5	0	1	0
chr9	6553429	6553429	G	C	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon20:c.C2396G:p.T799S	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1909586	Glycine_encephalopathy	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.0718770584642	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs772015252	2.395e-05	2.394e-05	1.362e-05	3.438e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.16	0.31427	T	0.07	0.23866	B	0.018	0.18489	B	0.000000	0.84330	N	0.048817	0.999999	0.58761	D	0.045	0.08109	N	-4.6	0.97849	D	-0.9	0.24244	N	0.699	0.70351	0.469	0.90102	D	0.804	0.93386	D	10	0.23110601	0.40077	T	0.071877	0.71387	D	0.348	0.66956	0.285	0.24280	0.944151601113	0.94356	0.8561111430446099	0.85574	0.0467582809392	0.05084	0.468905568123	0.34530	T	0.285794	0.65858	T	-0.0424881	0.45577	T	0.0117108	0.71092	D	0.139483683762711	0.16230	T	0.969503	0.89043	D	0.26949129	0.50022	0.15574133	0.36493	0.26949129	0.50021	0.15574133	0.36492	-5.035	0.37218	T	0.12362965076534467	0.12010	0.176	0.38462	B	.;.;.;.	.;.;.;.	2.280586	0.29163	18.03	0.86821972999672092	0.16796	0.93468	0.58298	D	AEFGBCI	0.919938	0.89118	D	-0.335512699274866	0.27809	1.528693	-0.249453906034163	0.29791	1.671918	0.999999999050553	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.375	0.06713	1	.	.	4.84	3.91	0.44383	7.780000	0.84290	9.958000	0.82775	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0:0.1436:0.8564:0.0	14.987	0.71008	768	0.49510	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2239.83	33	chr9	6553429	.	G	C	2239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=356;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.083;MQ=59.96;MQRankSum=0.92;QD=12.51;ReadPosRankSum=0.658;SOR=0.97	GT:AD:DP:GQ:PL	0/1:98,81:179:99:2250,0,2563	5	0	1	0
chr9	15874587	15874587	T	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon23:c.T3548G:p.L1183R,CCDC171:NM_173550:exon24:c.T3524G:p.L1175R,CCDC171:NM_001348002:exon25:c.T3269G:p.L1090R	.	429	1031	59	3	0	65	0.0305595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0051	0.00678914	0.0095	0.0007	0.0044	0.0002	0.0047	0.0090	0.0166	0.0271	0.0091784	1419	154602	rs149814894	0.0092	0.0093	0.0086	0.0099	0.0278	0.0091	0.0091	0.0269	0.0265	0.0012	0.0041	0.0207	2.55e-05	0.0037	0.0173	0.0085	0.0093	0.0278	0.0067	0.0067	0.0062	0.0072	0.0276	0.0064	0.0062	0.0238	0.0224	0.0014	0	0.0044	0.0213	0.0004	0.0046	0.0272	0.0090	0.0081	0.0276	0.089	0.32141	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000020	0.62929	D	0.000000	0.994351	0.42251	D	2.095	0.58118	M	2.11	0.19860	T	-1.04	0.27259	N	0.91	0.91162	-0.9070	0.47215	T	0.142	0.46220	T	10	0.008025855	0.00182	T	.	.	.	0.224	0.52174	.	.	0.154104182512	0.14974	0.45066847768622825	0.44984	.	.	0.552870512009	0.46263	T	0.050963	0.28745	T	-0.161557	0.26520	T	0.0147549	0.71290	D	0.0191352506970154	0.00621	T	0.824018	0.48536	T	0.4105033	0.61452	0.33814338	0.59596	0.4105033	0.61453	0.33814338	0.59595	-5.374	0.40669	T	.	.	0.676	0.71974	P	.	.	4.848866	0.79229	27.1	0.99786180405727065	0.87219	0.90879	0.52434	D	AEFBCI	0.686121	0.64790	D	0.279908937397231	0.55131	3.677424	0.400830299741183	0.61618	4.364282	0.998148247876127	0.36487	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.638833	0.57524	0	.	.	5.74	5.74	0.90070	5.177000	0.64870	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.105	0.81025	573	0.70213	.	.	.	.	.	.	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	0.018127	0.010101	0.017663	0.032164	0.000000	0.017241	0.006098	0.015152	0.08333	845.83	35	chr9	15874587	.	T	G	845.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.373;SOR=0.646	GT:AD:DP:GQ:PL	0/1:38,37:75:99:856,0,915	5	0	1	0
chr9	33038862	33038862	G	A	exonic	DNAJA1	.	nonsynonymous SNV	DNAJA1:NM_001314039:exon8:c.G682A:p.E228K,DNAJA1:NM_001539:exon9:c.G1153A:p.E385K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.020140001493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.268	0.31720	B	0.236	0.38470	B	0.000020	0.62929	D	0.153332	0.999984	0.54805	D	3.005	0.85968	M	0.01	0.62459	T	-3.02	0.62630	D	0.184	0.19995	-0.3658	0.73089	T	0.319	0.68813	T	10	0.30200276	0.47740	T	0.02014	0.42672	T	0.223	0.52023	0.471	0.54537	0.814083760786	0.81233	0.643771417573487	0.64312	0.5337776408	0.50804	0.625844478607	0.56556	T	0.705314	0.91550	D	0.0469076	0.57944	T	-0.170397	0.57408	T	0.979708135128021	0.72970	D	0.877412	0.59112	D	0.51355946	0.67887	0.3464543	0.60313	0.51355946	0.67888	0.3464543	0.60312	-17.492	0.99266	D	.	.	0.609	0.69263	P	.	.	3.720937	0.53168	23.3	0.99802400981199679	0.88728	0.98420	0.82592	D	AEFBCI	0.944523	0.95171	D	0.393353093085732	0.61061	4.302334	0.455746382743495	0.65087	4.779549	0.999999999353663	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.87	4.87	0.62877	8.746000	0.91292	9.379000	0.80502	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.863	0.78816	542	0.72843	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	48.83	33	chr9	33038862	.	G	A	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.176;DP=232;ExcessHet=0;FS=8.255;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.701;SOR=2.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:59:0|1:33038861_T_C:59,0,1083:33038861	5	0	1	0
chr9	67859537	67859537	C	-	exonic	ANKRD20A1	.	frameshift deletion	ANKRD20A1:NM_032250:exon1:c.111delC:p.H38Tfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	218.47	.	chr9	67859536	.	TC	T	218.47	.	AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=42.57;QD=30.37;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:225,18,0	0	1	0	5
chr9	77356866	77356866	C	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon54:c.C7688T:p.P2563L,VPS13A:NM_001018038:exon55:c.C7805T:p.P2602L,VPS13A:NM_015186:exon55:c.C7805T:p.P2602L,VPS13A:NM_033305:exon55:c.C7805T:p.P2602L	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	0.0034	0.128	YES	2447237	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0055796038906	.	0.000199681	8.45e-05	9.919e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs141031668	3.353e-05	3.352e-05	3.404e-05	3.302e-05	0.0002	2.567e-05	2.313e-05	8.214e-05	5.794e-05	5.976e-05	0	0	0.0002	3.75e-05	0	3.148e-05	4.97e-05	0	6.573e-05	6.564e-05	5.145e-05	8.066e-05	0.0004	3.518e-05	2.617e-05	6.852e-05	2.866e-05	7.225e-05	0	6.548e-05	0	0.0004	0	0	4.412e-05	0	0.0002	0.135	0.28148	T	0.424	0.14412	T	0.005	0.12996	B	0.002	0.08700	B	0.011360	0.29565	N	0.358364	0.999997	0.58761	D	1.01	0.25309	L	1.04	0.46412	T	-2.46	0.53736	N	0.249	0.28616	-1.0905	0.05449	T	0.057	0.23828	T	9	0.059055448	0.07038	T	0.00558	0.14409	T	0.017	0.02790	.	.	0.515036129008	0.51145	0.2938617707077042	0.29299	0.131949428448	0.14876	0.287018239498	0.08490	T	0.321793	0.69286	T	-0.371365	0.03526	T	-0.573574	0.15123	T	0.112874999642372	0.13719	T	0.738026	0.35686	T	0.0452288	0.07368	0.050498504	0.07939	0.0452288	0.07368	0.050498504	0.07939	-1.775	0.02436	T	.	.	0.068	0.02702	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.695738	0.21600	15.27	0.92554211911183693	0.22005	0.46984	0.27881	N	AEFGI	0.181578	0.30890	N	-0.431292197211786	0.24379	1.315926	-0.295862173464352	0.28234	1.572642	0.0180388587859802	0.13015	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	2.82	0.32061	0.407000	0.20770	2.213000	0.31384	-0.240000	0.07525	0.876000	0.30908	1.000000	0.68203	0.945000	0.48827	0.3761:0.4806:0.0:0.1432	5.960	0.18528	548	0.72362	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	305.83	33	chr9	77356866	.	C	T	305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.03;DP=210;ExcessHet=0;FS=1.339;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=0.989;SOR=1.015	GT:AD:DP:GQ:PL	0/1:31,12:43:99:316,0,789	5	0	1	0
chr9	90844157	90844157	G	A	exonic	SYK	.	nonsynonymous SNV	SYK:NM_001135052:exon2:c.G259A:p.D87N,SYK:NM_001174167:exon2:c.G259A:p.D87N,SYK:NM_001174168:exon2:c.G259A:p.D87N,SYK:NM_003177:exon2:c.G259A:p.D87N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0315740420601	.	0.000399361	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs201177148	0.0002	0.0002	7.895e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0003	9.892e-06	0.0001	0.0028	9.846e-05	9.842e-05	8.991e-05	0.0001	0.0023	6.001e-05	4.875e-05	0.0013	0.0010	4.809e-05	0	0	0	0.0004	0	0	0	0	0.0023	0.003	0.68238	D	0.071	0.43531	T	0.522	0.39540	P	0.358	0.43079	B	0.000039	0.55875	D	0.160602	0.999997	0.58761	D	2.64	0.77224	M	1.62	0.28189	T	-1.64	0.39314	N	0.173	0.27077	-0.8467	0.52195	T	0.132	0.44347	T	10	0.014643639	0.00308	T	0.031574	0.53626	D	0.176	0.44373	.	.	0.607244974009	0.60409	0.4899533693493624	0.48915	0.201567771287	0.22553	0.522092819214	0.41921	T	0.474961	0.80620	T	-0.460308	0.00979	T	-0.436713	0.29176	T	0.283723109656166	0.24327	T	0.889011	0.62289	D	0.74848753	0.80780	0.4884488	0.70399	0.74848753	0.80782	0.4884488	0.70399	-10.466	0.76651	D	.	.	0.150	0.34026	B	.;.;.;.	.;.;.;.	4.272483	0.65018	24.8	0.99876838635080156	0.95410	0.99122	0.91549	D	AEFDBI	0.914536	0.87804	D	0.464344124717533	0.65021	4.770416	0.482506010004803	0.66832	5.003599	0.999999999999734	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.417000	0.79365	11.548000	0.93166	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.0:0.0:1.0:0.0	18.043	0.89248	964	0.07719	SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1029.83	39	chr9	90844157	.	G	A	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.095;SOR=0.635	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1040,0,804	5	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:182,115:318:99:593,0,3297	0	0	6	0
chr9	94098538	94098538	G	A	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.G1972A:p.V658I,PTPDC1:NM_152422:exon6:c.G1966A:p.V656I,PTPDC1:NM_001253830:exon7:c.G1810A:p.V604I,PTPDC1:NM_177995:exon7:c.G1810A:p.V604I	.	430	1080	8	4	0	16	0.00735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0079	0.00439297	0.0067	0.0024	0.0040	0	0.0051	0.0101	0.0044	0.0019	0.0068693	1062	154602	rs61755091	0.0083	0.0083	0.0084	0.0082	0.0116	0.0082	0.0081	0.0096	0.0095	0.0021	0.0042	0.0084	0	0.0039	0.0116	0.0097	0.0075	0.0016	0.0069	0.0069	0.0072	0.0067	0.0111	0.0066	0.0065	0.0104	0.0102	0.0019	0.0044	0.0071	0.0084	0	0.0052	0.0204	0.0111	0.0085	0.0012	0.347	0.15717	T	0.616	0.07543	T	0.001	0.11197	B	0.003	0.12992	B	0.200180	0.16620	N	0.592582	0.998846	0.21861	N	1.435	0.35949	L	2.3	0.16953	T	-0.13	0.08971	N	0.03	0.01068	-0.9858	0.33639	T	0.015	0.05849	T	10	0.006323844	0.00143	T	.	.	.	0.033	0.08068	.	.	0.429203605099	0.42540	0.03665613889443326	0.03612	0.10803942518	0.12183	0.310288310051	0.11951	T	0.014937	0.12621	T	-0.712919	0.00031	T	-0.785159	0.02301	T	0.00446982036657947	0.00048	T	0.657134	0.26688	T	0.027024174	0.01836	0.021128692	0.00175	0.027024174	0.01835	0.021128692	0.00175	-4.152	0.27026	T	.	.	0.093	0.13969	B	.;.;.;.	.;.;.;.	1.392444	0.18056	13.52	0.71815514447516693	0.09758	0.83304	0.42432	D	AEFBI	0.114995	0.22628	N	-0.627957895652806	0.18108	0.9374672	-0.453060302588684	0.23462	1.279625	0.999533828832629	0.40238	0.632932	0.41330	0	0.588015	0.36545	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	5.76	1.65	0.23015	0.222000	0.17482	2.027000	0.30236	-0.119000	0.14319	0.995000	0.38783	0.699000	0.26222	0.978000	0.57271	0.1456:0.3373:0.405:0.1122	3.914	0.08716	870	0.31527	.;.;.;.	.	.	.	.	.	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	0	0	0.008056	0.015152	0.006793	0.011696	0.050000	0.008621	0.003049	0.000000	0.08333	727.83	36	chr9	94098538	.	G	A	727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.61;DP=221;ExcessHet=0;FS=6.396;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=2.21;SOR=0.201	GT:AD:DP:GQ:PL	0/1:22,27:49:99:738,0,569	5	0	1	0
chr9	94928437	94928437	G	A	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_001193329:exon6:c.G1567A:p.E523K,AOPEP:NM_001193331:exon7:c.G1567A:p.E523K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0173412498679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894162990	0.0002	0.0001	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	9.497e-05	0	0	0	0	0.0002	0.0002	0.0003	0	7.885e-05	7.88e-05	8.993e-05	6.725e-05	0.0002	4.497e-05	3.512e-05	9.046e-05	7.011e-05	2.413e-05	0	0	0	0	0	0	0.0002	0	0	0.059	0.42199	T	0.1	0.54159	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.65	0.15028	T	-2.16	0.48850	N	0.438	0.47672	-1.0477	0.15045	T	0.111	0.39794	T	10	0.32045305	0.49420	T	0.017341	0.38999	T	0.197	0.47942	.	.	0.304760801415	0.30091	0.4485523929885274	0.44773	0.369964310443	0.38527	.	.	.	.	.	.	-0.121213	0.32925	T	-0.242763	0.50528	T	0.739244341850281	0.42697	D	0.861114	0.56692	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.;.	.;.;.	3.504473	0.49049	22.7	0.99788043032842677	0.87396	0.98863	0.87857	D	AEFDBI	0.701463	0.65815	D	0.148971212319137	0.48764	3.08466	0.203237532726475	0.50028	3.199098	0.999999999999919	0.74766	0.600919	0.35232	0	0.588015	0.36545	0	0.608075	0.38828	0	0.620204	0.46100	0	.	.	5.01	5.01	0.66477	5.999000	0.70334	7.528000	0.59870	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	0.0:0.0:1.0:0.0	18.863	0.92247	716	0.55970	.;.;Peptidase M1, membrane alanine aminopeptidase, 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	.	.	.	.	.	.	.	.	0.08333	188.83	27	chr9	94928437	.	G	A	188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.996;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.753;SOR=0.518	GT:AD:DP:GQ:PL	0/1:19,7:26:99:199,0,605	5	0	1	0
chr9	103005182	103005182	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G551A:p.G184D	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0043	0.00319489	0.0037	0.0012	0.0035	0	0.0006	0.0059	0.0057	6.261e-05	0.0034993	541	154602	rs10990424	0.0050	0.0050	0.0052	0.0048	0.0059	0.0049	0.0049	0.0058	0.0057	0.0013	0.0040	0.0031	5.051e-05	0.0012	0.0051	0.0059	0.0053	0.0002	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0013	0.0022	0.0048	0.0046	0	0.0005	0.0068	0.0052	0.0057	0	0.431	0.09514	T	0.843	0.03579	T	0.047	0.21998	B	0.045	0.24526	B	0.929657	0.07527	N	1.043410	1	0.08975	N	-0.075	0.04822	N	2.54	0.13916	T	1.15	0.01151	N	0.083	0.05929	-0.9386	0.42837	T	0.013	0.04890	T	10	0.0052046776	0.00113	T	.	.	.	0.094	0.27141	.	.	0.0716867268079	0.06686	3.314550284973656E-4	0.00030	0.00189985442068	0.00161	0.267156481743	0.05773	T	0.002139	0.01547	T	-0.731476	0.00023	T	-0.821572	0.01421	T	0.0130609101285253	0.00228	T	0.357364	0.08134	T	0.033441957	0.03564	0.06643014	0.13606	0.033441957	0.03564	0.06643014	0.13605	-3.054	0.10775	T	.	.	0.080	0.07985	B	.;.;.	.;.;.	-0.971801	0.00812	0.027	0.24856002066686481	0.01119	0.00185	0.01079	N	AEFGI	0.038695	0.05515	N	-1.55910071499965	0.01482	0.06469483	-1.61273809705862	0.01580	0.07162994	6.62113550440601E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	-4.78	0.02975	-1.507000	0.02373	-11.495000	0.00600	-0.279000	0.06446	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1828:0.0:0.8172:0.0	15.733	0.77589	506	0.75555	.;.;.	.	.	.	.	.	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	0	0	0.009063	0.010101	0.013587	0.008772	0.000000	0.008621	0.003049	0.000000	0.08333	712.83	33	chr9	103005182	.	G	A	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=235;ExcessHet=0;FS=5.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.42;SOR=0.426	GT:AD:DP:GQ:PL	0/1:32,27:59:99:723,0,803	5	0	1	0
chr9	104526284	104526284	T	C	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.A926G:p.Y309C	.	.	.	.	.	.	.	.	.	.	.	3466046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00792634460891	.	.	5.168e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs763903725	3.315e-05	3.352e-05	1.237e-05	5.417e-05	0.0005	2.568e-05	2.271e-05	0.0004	0.0004	3.075e-05	0	0	0	0	0.0002	0	3.356e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.006	0.70582	D	0.92	0.51019	P	0.24	0.38599	B	0.026295	0.25944	U	0.172974	1	0.08975	N	0.255	0.09829	N	1.21	0.37230	T	-1.21	0.30762	N	0.399	0.43995	-1.0257	0.21853	T	0.056	0.23488	T	10	0.13247585	0.25215	T	0.007926	0.21033	T	0.143	0.38195	0.506	0.60078	0.536474986538	0.53298	0.12085492895482007	0.12012	0.224564625669	0.24988	0.31965470314	0.13369	T	0.003577	0.02980	T	-0.348451	0.04825	T	-0.430885	0.29835	T	0.128734165586984	0.15264	T	0.0722928	0.00527	T	0.1601036	0.35928	0.10665017	0.25660	0.1601036	0.35927	0.10665017	0.25660	-2.199	0.04035	T	.	.	0.103	0.18331	B	.	.	2.652567	0.34540	19.66	0.97809307287816605	0.36116	0.06181	0.12165	N	AEFBI	0.101246	0.20340	N	-0.242867083379482	0.31388	1.759541	-0.316303303672748	0.27572	1.530875	1.14636412095647E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.02	4.02	0.45968	1.628000	0.36672	1.735000	0.28356	0.661000	0.55757	0.005000	0.17040	0.017000	0.20586	0.263000	0.23594	0.0:0.0:0.0:1.0	9.506	0.38213	637	0.64373	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	476.83	33	chr9	104526284	.	T	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=192;ExcessHet=0;FS=3.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.787;SOR=1.911	GT:AD:DP:GQ:PL	0/1:21,15:36:99:487,0,629	5	0	1	0
chr9	110496861	110496861	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon8:c.A1754G:p.N585S	.	438	1082	2	0	0	2	0.000923361	.	.	.	2427624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.00947903690562	0.0006	0.000199681	0.0007	0	0.0020	0	0	0.0013	0.0038	0	0.0003881	60	154602	rs199618001	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	6.19e-05	0.0002	0	0	0.0007	0	0.0009	0.0008	2.507e-05	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	9.618e-05	0	0.0004	0	0	0.0004	0	0.0010	0	0	0.617	0.05357	T	0.02	0.58613	D	0.993	0.65571	D	0.841	0.60228	P	0.000001	0.84330	D	0.092019	0.922586	0.29211	N	1.385	0.34509	L	1.93	0.22881	T	-1.27	0.31981	N	0.48	0.55540	-1.0854	0.06335	T	0.066	0.27087	T	10	0.028874516	0.01016	T	0.009479	0.24832	T	0.134	0.36365	.	.	0.143184338766	0.13958	0.15945695633202217	0.15866	0.0965475191183	0.10902	0.413789838552	0.26981	T	0.012967	0.11300	T	-0.550312	0.00290	T	-0.613703	0.11685	T	0.0734299570322037	0.09124	T	0.849515	0.53247	T	0.2370901	0.46568	0.24958476	0.50533	0.2370901	0.46568	0.24958476	0.50532	-5.187	0.38809	T	.	.	0.086	0.10835	B	.;.;.	.;.;.	3.459544	0.48208	22.6	0.99803031132626341	0.88728	0.90509	0.51744	D	AEFBI	0.476320	0.51978	N	0.298016496458074	0.56047	3.769054	0.376181247682835	0.60098	4.193931	0.0821690839798335	0.15893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.71	5.71	0.89031	3.698000	0.54504	6.197000	0.54843	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1481:0.0:0.0:0.8519	10.235	0.42452	973	0.05605	HYR domain|HYR domain;HYR domain|HYR domain;.	.	.	.	.	.	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	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.08333	370.83	36	chr9	110496861	.	T	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.821;DP=228;ExcessHet=0;FS=4.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.29;SOR=0.293	GT:AD:DP:GQ:PL	0/1:36,18:54:99:381,0,1005	5	0	1	0
chr9	113522987	113522987	C	T	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276261:exon8:c.C973T:p.R325C,RGS3:NM_001322214:exon8:c.C973T:p.R325C,RGS3:NM_130795:exon8:c.C973T:p.R325C,RGS3:NM_001282923:exon15:c.C1486T:p.R496C,RGS3:NM_017790:exon15:c.C1480T:p.R494C,RGS3:NM_144488:exon18:c.C1816T:p.R606C	.	432	1089	1	0	0	1	0.000458926	.	.	.	2673859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.101797132516	0.0002	.	0.0002	0	0.0008	0	0.0003	0.0002	0	0	0.0001488	23	154602	rs138006273	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0004	2.987e-05	0.0006	0	7.557e-05	0.0001	0.0009	0.0002	0.0001	4.637e-05	5.915e-05	5.91e-05	2.57e-05	9.417e-05	7.35e-05	3.078e-05	2.21e-05	2.847e-05	1.858e-05	2.414e-05	0	0	0	0	0.0003	0	7.35e-05	0	0	0.024	0.50132	D	0.026	0.57587	D	0.681	0.49677	P	0.115	0.40572	B	0.000000	0.84330	D	0.000000	0.999979	0.54805	D	2.205	0.62170	M	-0.11	0.64445	T	-2.93	0.82341	D	0.592	0.65159	-0.2125	0.77348	T	0.412	0.76034	T	10	0.26286805	0.43759	T	0.101797	0.77489	D	0.386	0.70276	.	.	0.747085183379	0.74480	0.6995176667637157	0.69892	0.386515749672	0.39939	0.735539734364	0.72316	T	0.205812	0.74580	T	-0.0101487	0.50246	T	0.109556	0.77544	D	0.43609407544136	0.30285	T	0.968903	0.89869	D	0.35277724	0.57282	0.22076213	0.46863	0.35277724	0.57282	0.22076213	0.46863	-9.153	0.72972	D	.	.	0.215	0.45433	B	.;.;.;.;.;.	.;.;.;.;.;.	5.273909	0.88551	29.6	0.99854433083484262	0.93368	0.76670	0.37621	D	AEFDGBCI	0.722792	0.67261	D	0.401433411565498	0.61503	4.352118	0.476949056256874	0.66466	4.955683	0.999999999966912	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.46	5.46	0.80021	3.265000	0.51264	7.695000	0.65987	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.452	0.83835	817	0.41665	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	919.83	34	chr9	113522987	.	C	T	919.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.781;DP=255;ExcessHet=0;FS=4.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.295;SOR=0.308	GT:AD:DP:GQ:PL	0/1:39,39:78:99:930,0,962	5	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N,RGS3:NM_001322215:exon2:c.C440A:p.T147N,RGS3:NM_001282922:exon3:c.C386A:p.T129N,RGS3:NM_001351526:exon4:c.C386A:p.T129N,RGS3:NM_130795:exon11:c.C1580A:p.T527N,RGS3:NM_001282923:exon18:c.C2093A:p.T698N,RGS3:NM_144488:exon21:c.C2423A:p.T808N	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	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	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1529.83	34	chr9	113583835	.	C	A	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.45;DP=283;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.322;SOR=0.761	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1540,0,1521	5	0	1	0
chr9	115078080	115078080	C	T	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon7:c.G2537A:p.R846H	Deafness, autosomal dominant 56, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	2334371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0318808107262	.	0.000399361	0.0001	0	0	0.0001	0	2.997e-05	0	0.0008	0.0001294	20	154602	rs201633665	8.961e-05	8.961e-05	5.173e-05	0.0001	0.0010	7.689e-05	7.233e-05	0.0008	0.0008	2.987e-05	0	0	0.0001	5.617e-05	0.0005	2.338e-05	0.0001	0.0010	6.569e-05	6.563e-05	6.427e-05	6.717e-05	0.0006	3.516e-05	2.615e-05	0.0002	9.003e-05	0	0	0	0	0.0004	0	0	7.352e-05	0	0.0006	0.23	0.22224	T	0.069	0.47828	T	0.9	0.54400	P	0.459	0.50218	P	0.000034	0.55875	D	0.107986	0.975046	0.39155	D	1.83	0.48079	L	0.44	0.56609	T	-3.17	0.72594	D	0.413	0.51405	-0.8618	0.51133	T	0.147	0.47273	T	10	0.084314644	0.14119	T	0.031881	0.53851	D	0.153	0.40148	.	.	0.765835553066	0.76369	0.4344904454221818	0.43366	0.570027948751	0.53169	0.373452216387	0.21325	T	0.367762	0.73278	T	-0.343191	0.05170	T	-0.326345	0.41875	T	0.320856183767319	0.25857	T	0.854814	0.69301	D	0.58672184	0.71974	0.25406516	0.51065	0.58672184	0.71975	0.25406516	0.51064	-9.004	0.67723	D	0.20942059097913696	0.28036	0.089	0.14339	B	.;.;.;.;.;.	.;.;.;.;.;.	4.322822	0.66170	24.9	0.99939222977028008	0.99734	0.79447	0.39369	D	AEFBI	0.226320	0.35029	N	0.278835802048731	0.55076	3.67207	0.30471833046166	0.55816	3.744476	0.999150543978878	0.38592	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.48	3.51	0.39297	0.804000	0.26758	3.222000	0.36859	0.599000	0.40250	0.075000	0.22209	1.000000	0.68203	0.931000	0.46843	0.1491:0.7743:0.0:0.0766	8.753	0.33790	551	0.72115	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;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	0.002014	0.015152	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	685.83	36	chr9	115078080	.	C	T	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.973;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.987;SOR=0.696	GT:AD:DP:GQ:PL	0/1:47,30:77:99:696,0,1282	5	0	1	0
chr9	120976794	120976794	G	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon29:c.C3788G:p.T1263S,C5:NM_001735:exon29:c.C3770G:p.T1257S	C5 deficiency	.	.	.	.	.	.	.	.	.	.	1156068	not_provided|C5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	0.00891766350348	0.0019	0.00199681	0.0007	0.0074	0.0003	0	0	2.997e-05	0	0	0.0006209	96	154602	rs141704823	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0002	1.799e-06	0.0004	2.319e-05	0.0019	0.0019	0.0020	0.0017	0.0066	0.0017	0.0016	0.0060	0.0057	0.0066	0	0.0004	0	0	0	0	2.94e-05	0.0009	0	0.293	0.14843	T	0.441	0.13290	T	0.051	0.22415	B	0.049	0.25116	B	0.049133	0.23188	N	0.485116	1	0.08975	N	1.215	0.30540	L	1.25	0.36512	T	-0.95	0.25332	N	0.305	0.34444	-1.0157	0.25110	T	0.035	0.14987	T	10	0.008971542	0.00203	T	0.008918	0.23511	T	0.073	0.21317	0.671	0.80903	0.556891854595	0.55349	0.32896293947467853	0.32809	0.163953475148	0.18498	0.388000965118	0.23389	T	0.056605	0.30334	T	-0.542668	0.00323	T	-0.549253	0.17397	T	0.00737774366612917	0.00085	T	0.50435	0.15896	T	0.22160736	0.44742	0.07215013	0.15532	0.22160736	0.44742	0.07215013	0.15531	-4.66	0.32917	T	.	.	0.142	0.31125	B	.	.	3.021402	0.40437	21.2	0.96928861901227226	0.31648	0.67136	0.33324	D	AEFGBI	0.434091	0.49528	N	-0.237821323293741	0.31593	1.773021	-0.0238542299289419	0.38639	2.279442	0.999686114906353	0.41756	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	4.58	0.56077	2.636000	0.46211	9.738000	0.81424	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.980000	0.58198	0.0772:0.1476:0.7752:0.0	9.111	0.35891	958	0.09170	Alpha-macroglobulin complement component	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1088.83	33	chr9	120976794	.	G	C	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.671;DP=266;ExcessHet=0;FS=3.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.61;SOR=1.127	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1099,0,1583	5	0	1	0
chr9	123371518	123371518	G	T	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon8:c.G2376T:p.E792D	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	711753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0087	0.00898562	0.0024	0.0277	0.0010	0	0	1.547e-05	0.0011	6.064e-05	0.0022639	350	154602	rs75370841	0.0007	0.0007	0.0008	0.0006	0.0266	0.0007	0.0007	0.0251	0.0246	0.0266	0.0009	0	0	0	0.0003	7.194e-06	0.0012	0.0001	0.0078	0.0078	0.0085	0.0070	0.0274	0.0074	0.0072	0.0261	0.0256	0.0274	0	0.0017	0	0	0	0	7.349e-05	0.0052	0	0.416	0.09958	T	0.094	0.40267	T	0.019	0.17989	B	0.009	0.14300	B	0.876814	0.07210	N	1.077170	1	0.08975	N	2.135	0.59519	M	-2.09	0.86077	D	-1.19	0.30346	N	0.152	0.15609	-0.7747	0.56598	T	0.219	0.58163	T	10	0.0031944513	0.00054	T	.	.	.	0.103	0.29403	0.274	0.22528	0.639984247256	0.63702	0.2445636293814715	0.24370	0.352060780645	0.37045	0.23600307107	0.02442	T	0.030342	0.21531	T	-0.471786	0.00828	T	-0.429514	0.29991	T	0.00316335646721672	0.00033	T	0.556544	0.19325	T	0.06049578	0.12420	0.03941994	0.04030	0.06631601	0.14256	0.043028623	0.05262	-5.821	0.45238	T	0.3214951566224772	0.41962	0.092	0.14293	B	.;.	.;.	0.539916	0.09088	5.868	0.89592069473845981	0.18930	0.16547	0.19439	N	AEFDGBC	0.109120	0.21684	N	-1.16789947518687	0.05491	0.2504891	-1.20627491142999	0.05808	0.277808	0.999989234089861	0.51787	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.62	-0.108	0.12926	0.652000	0.24573	1.800000	0.28874	-0.110000	0.15115	0.000000	0.06391	0.079000	0.22353	0.009000	0.08673	0.4394:0.0:0.4278:0.1329	5.663	0.16957	371	0.84287	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1360.83	33	chr9	123371518	.	G	T	1360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.257;DP=286;ExcessHet=0;FS=5.627;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.23;SOR=0.315	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1371,0,1059	5	0	1	0
chr9	128311584	128311584	T	C	exonic	TRUB2	.	nonsynonymous SNV	TRUB2:NM_001329861:exon5:c.A346G:p.K116E,TRUB2:NM_001329862:exon6:c.A310G:p.K104E,TRUB2:NM_015679:exon6:c.A478G:p.K160E,TRUB2:NM_001329863:exon7:c.A166G:p.K56E	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0166156503272	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002329	36	154602	rs575974527	0.0001	0.0001	5.99e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	0	1.656e-05	0.0022	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.015	0.52492	D	0.025	0.56192	D	0.978	0.58756	D	0.762	0.56524	P	0.000036	0.55875	D	0.161291	0.998974	0.45795	D	2.2	0.62015	M	0.73	0.50721	T	-2.82	0.59545	D	0.65	0.66101	-0.8519	0.51837	T	0.178	0.52287	T	10	0.07613608	0.11855	T	0.016616	0.37963	T	0.230	0.53062	0.49	0.57573	0.267299060538	0.26338	0.7242953382321677	0.72373	0.825195395317	0.67364	0.600800812244	0.53018	T	0.065929	0.32814	T	-0.303109	0.08368	T	-0.214648	0.53251	T	0.213776212730444	0.21148	T	0.857914	0.54791	D	0.48039392	0.65924	0.42905128	0.66599	0.48039392	0.65925	0.42905128	0.66600	-14.336	0.94097	D	.	.	0.345	0.56265	A	.	.	3.879494	0.56379	23.7	0.99856815659502651	0.93548	0.93647	0.58792	D	AEFDGBCI	0.682679	0.64562	D	0.276120751816232	0.54942	3.658651	0.288211106330725	0.54848	3.64891	0.999999999882497	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.41	0.52588	3.838000	0.55532	3.630000	0.39313	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.1394:0.8606	12.538	0.55499	315	0.87208	Pseudouridine synthase II, 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	.	.	.	.	.	.	.	.	0.08333	327.83	34	chr9	128311584	.	T	C	327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.978;DP=202;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.307;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,16:29:99:338,0,284	5	0	1	0
chr9	128656662	128656662	G	A	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon1:c.C65T:p.A22V	.	431	1074	17	0	0	17	0.00785219	.	.	YES	919188	DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|not_provided|See_cases	.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0039	0.00139776	0.0147	0	0.0172	0	0.0048	0.0333	0.0167	0.0051	0.0026455	409	154602	rs201715229	0.0032	0.0032	0.0031	0.0033	0.0137	0.0031	0.0031	0.0110	0.0100	0.0005	0.0027	0.0215	0	0.0008	0.0137	0.0030	0.0047	0.0031	0.0026	0.0026	0.0026	0.0026	0.0039	0.0024	0.0023	0.0031	0.0028	0.0005	0.0044	0.0039	0.0228	0	0.0006	0.0068	0.0031	0.0019	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.969	0.60036	D	0.304	0.50647	B	0.063802	0.21998	N	0.327042	0.949009	0.26551	N	1.04	0.26193	L	-0.99	0.75911	T	-0.85	0.24026	N	0.257	0.29081	-0.6570	0.62408	T	0.264	0.63469	T	10	0.0067727864	0.00154	T	.	.	.	0.256	0.56694	.	.	0.762820204418	0.76066	0.345762334584744	0.34490	0.50621119283	0.48837	0.814750313759	0.84221	D	0.033738	0.23038	T	-0.331137	0.06026	T	-0.247478	0.50065	T	0.0607750055070488	0.07290	T	0.578142	0.20837	T	0.175322	0.38385	0.3908777	0.63872	0.19349916	0.41062	0.39782614	0.64387	-4.447	0.30189	T	.	.	0.202	0.48561	B	.;.;.	.;.;.	3.824749	0.55248	23.6	0.99313947490755272	0.59129	0.11453	0.16644	N	ALL	0.149779	0.27394	N	0.133431610482081	0.48027	3.020442	0.0530551527143404	0.42220	2.549916	0.999999999999788	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.74	2.83	0.32150	1.687000	0.37298	8.784000	0.78249	0.640000	0.52149	0.924000	0.32081	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7737:0.2263	8.695	0.33453	0	0.99858	.;.;.	.	.	.	.	.	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	0.016940	0.005319	0.021978	0.008876	0.100000	0.053571	0.009554	0.003788	0.08333	749.83	41	chr9	128656662	.	G	A	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.158;DP=250;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.275;SOR=0.914	GT:AD:DP:GQ:PL	0/1:22,33:55:99:760,0,435	5	0	1	0
chr9	128822602	128822605	AGTA	-	exonic	ENDOG	.	frameshift deletion	ENDOG:NM_004435:exon3:c.886_889del:p.K297Efs*6	.	428	1088	6	0	0	6	0.00274977	.	.	.	215391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00419329	0.0025	0.0006	0.0109	0.0047	0	0.0040	0	0.0005	0.0001537	4	26028	rs1353989257	0.0021	0.0021	0.0022	0.0021	0.0233	0.0021	0.0021	0.0201	0.0189	0.0010	0.0071	0.0046	0.0016	0	0.0233	0.0020	0.0027	0.0007	0.0022	0.0022	0.0021	0.0024	0.0086	0.0021	0.0020	0.0074	0.0070	0.0008	0	0.0086	0.0066	0.0014	0	0.0204	0.0019	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021761	0.000000	0.016349	0.070588	0.050000	0.008772	0.009259	0.011450	0.08333	1099.79	37	chr9	128822601	.	CAGTA	C	1099.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=236;ExcessHet=0;FS=2.465;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22;ReadPosRankSum=0.088;SOR=1.143	GT:AD:DP:GQ:PL	0/1:22,28:50:99:1110,0,839	5	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G,FIBCD1:NM_001145106:exon6:c.C907G:p.R303G	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	.	.	.	.	.	.	.	.	0.08333	555.83	34	chr9	130911831	.	G	C	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.483;DP=282;ExcessHet=0;FS=5.291;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.923;SOR=1.033	GT:AD:DP:GQ:PL	0/1:31,25:56:99:566,0,1227	5	0	1	0
chr9	136504898	136504898	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon26:c.G4793A:p.R1598H	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	510069	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Aortic_valve_disease_1|Adams-Oliver_syndrome_5	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.140346222394	.	.	0.0001	0.0003	0	0	0	0.0002	0	0.0001	3.88e-05	6	154602	rs755124691	7.679e-05	8.345e-05	7.473e-05	7.888e-05	0.0003	6.512e-05	6.06e-05	6.869e-05	6.361e-05	3.028e-05	7.428e-05	0	0	2.018e-05	0.0003	8.286e-05	0.0001	7.29e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	5.284e-05	2.834e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	0.188	0.21304	T	0.759	0.04652	T	0.093	0.25333	B	0.02	0.19048	B	0.000023	0.55875	N	0.120960	0.999997	0.58761	D	1.21	0.30464	L	-2.0	0.85393	D	-0.16	0.09460	N	0.266	0.30118	-0.6430	0.63018	T	0.354	0.71696	T	10	0.2406252	0.41225	T	0.140346	0.82280	D	0.206	0.49396	0.662	0.79996	0.743473773353	0.74117	.	.	1.02302341206	0.75177	0.534981548786	0.43736	T	0.299808	0.67232	T	-0.0317255	0.47167	T	-0.283348	0.46459	T	0.0261470783072617	0.01425	T	0.715028	0.32735	T	0.20531413	0.42669	0.09250828	0.21805	0.20531413	0.42669	0.09250828	0.21805	-6.091	0.47035	T	.	.	.	.	.	.	.	2.890232	0.38275	20.7	0.39446284370798851	0.02722	0.93561	0.58553	D	AEFDGBHI	0.597087	0.59101	D	-0.337405448879681	0.27737	1.524266	-0.218936637762059	0.30856	1.741076	0.999999498337819	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.17	3.25	0.36363	4.774000	0.62033	0.052000	0.14014	0.535000	0.24933	1.000000	0.71638	0.001000	0.17328	0.628000	0.32104	0.0:0.8959:0.0:0.1041	9.988	0.41025	934	0.15400	Notch, NOD domain|Notch, NOD domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1767.83	33	chr9	136504898	.	C	T	1767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.274;DP=295;ExcessHet=0;FS=1.474;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.355;SOR=0.899	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1778,0,1367	5	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	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	0.011581	0.015152	0.010870	0.014620	0.000000	0.000000	0.006098	0.022901	0.08333	735.83	37	chr9	137306981	.	G	A	735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.267;DP=227;ExcessHet=0;FS=2.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.388;SOR=0.404	GT:AD:DP:GQ:PL	0/1:24,26:50:99:746,0,650	5	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:41,19:60:91:91,0,718	1	0	5	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, 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	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	3500.03	51	chr10	3138965	.	G	C	3500.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.91;DP=419;ExcessHet=1.383;FS=9.383;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.474;SOR=1.169	GT:AD:DP:GQ:PL	0/1:32,33:65:99:1029,0,744	3	0	3	0
chr10	7756111	7756111	A	G	exonic	KIN	.	nonsynonymous SNV	KIN:NM_012311:exon13:c.T1151C:p.I384T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0039368840257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.399e-05	0.0003	4.18e-05	2.612e-05	8.079e-05	2.619e-05	2.347e-05	2.855e-05	2.514e-05	6.374e-05	0	4.066e-05	8.079e-05	1.971e-05	0	3.789e-05	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.006	0.61437	D	0.021	0.58089	D	0.508	0.37280	P	0.363	0.43280	B	0.000000	0.84330	D	0.052984	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.65	0.56787	D	0.722	0.72388	-0.5308	0.67511	T	0.274	0.64546	T	9	0.7252121	0.73927	D	0.003937	0.09305	T	0.314	0.63588	0.537	0.64730	0.741118493395	0.73879	0.7471248489971644	0.74658	0.510940460383	0.49191	0.853174448013	0.90093	D	0.576494	0.86063	D	0.386477	0.89117	D	0.317371	0.88980	D	0.955519378185272	0.64527	D	0.937406	0.76468	D	0.5480004	0.69844	0.38756275	0.63621	0.5480004	0.69845	0.38756275	0.63621	-8.613	0.65175	D	.	.	0.672	0.71831	P	.	.	4.067428	0.60402	24.2	0.99631331253261091	0.76081	0.98487	0.83297	D	AEFBI	0.734415	0.68055	D	0.428576080001684	0.62999	4.525481	0.526030091445756	0.69748	5.404778	0.977746965970882	0.29851	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.81	5.81	0.92413	7.258000	0.77783	11.135000	0.86907	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.158	0.81492	797	0.45241	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	109.06	35	chr10	7756111	.	A	G	109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=290;ExcessHet=0.4139;FS=50.627;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.839;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,5:43:76:0|1:7756110_A_G:76,0,1504:7756110	4	0	2	0
chr10	13110382	13110382	A	T	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon3:c.A275T:p.E92V,OPTN:NM_001008212:exon4:c.A275T:p.E92V,OPTN:NM_001008211:exon5:c.A275T:p.E92V,OPTN:NM_001008213:exon5:c.A275T:p.E92V	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	513590	not_provided|Glaucoma_1,_open_angle,_E|Amyotrophic_lateral_sclerosis_type_12|Primary_open_angle_glaucoma|Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis	MedGen:C3661900|MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.552	0.245342433157	0.0002	.	8.289e-05	0	8.678e-05	0	0	3.014e-05	0	0.0004	6.47e-05	10	154602	rs202044898	5.13e-05	5.13e-05	3.948e-05	6.325e-05	0.0010	4.192e-05	3.823e-05	0.0005	0.0003	8.961e-05	8.944e-05	0.0003	0	0	0.0010	2.158e-05	0.0002	0.0002	3.939e-05	3.937e-05	3.854e-05	4.028e-05	5.88e-05	1.714e-05	1.129e-05	1.972e-05	1.124e-05	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000008	0.62929	D	0.175841	0.999993	0.58761	D	2.57	0.75187	M	-2.52	0.89363	D	-4.73	0.80085	D	0.586	0.70351	0.743	0.93703	D	0.798	0.93163	D	10	0.7344347	0.74522	D	0.245342	0.88882	D	0.552	0.81485	.	.	0.985968990554	0.98581	0.5325789762629505	0.53182	0.639214891415	0.57598	0.412130177021	0.26752	T	0.721785	0.92143	D	0.0380823	0.56794	T	0.11725	0.78052	D	0.898508369922638	0.55062	D	0.834017	0.50309	T	0.8892774	0.90445	0.6687421	0.80569	0.8892774	0.90446	0.6687421	0.80570	-7.995	0.61784	D	0.6424808526083101	0.71340	0.196	0.41813	B	.;.;.;.;.;.	.;.;.;.;.;.	4.217485	0.63767	24.6	0.9923460429432982	0.56342	0.95317	0.64251	D	AEFGBI	0.635791	0.61518	D	0.66932502101077	0.77624	6.710682	0.629105703071549	0.77065	6.607814	0.993101583902399	0.33087	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.298000	0.65504	8.036000	0.76294	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	1.0:0.0:0.0:0.0	13.985	0.63846	952	0.10565	NF-kappa-B essential modulator NEMO, N-terminal;.;NF-kappa-B essential modulator NEMO, N-terminal;.;NF-kappa-B essential modulator NEMO, N-terminal;NF-kappa-B essential modulator NEMO, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	399.83	37	chr10	13110382	.	A	T	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.95;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.821;SOR=0.578	GT:AD:DP:GQ:PL	0/1:29,18:47:99:410,0,891	5	0	1	0
chr10	17866565	17866565	G	A	exonic	MRC1	.	nonsynonymous SNV	MRC1:NM_002438:exon12:c.G1787A:p.R596Q	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00920790702949	0.0016	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs141126876	0.0024	0.0024	0.0024	0.0024	0.0034	0.0023	0.0023	0.0033	0.0032	0.0007	0.0005	0.0001	0	0.0022	0.0010	0.0034	0.0017	0.0014	0.0018	0.0018	0.0020	0.0016	0.0030	0.0016	0.0015	0.0027	0.0025	0.0006	0.0022	0.0006	0	0	0.0022	0	0.0030	0.0009	0.0010	0.098	0.30800	T	0.155	0.31936	T	1.0	0.90584	D	0.998	0.88582	D	0.000142	0.49130	U	0.000000	0.999984	0.54805	D	0.805	0.20218	L	2.23	0.18083	T	-0.85	0.23156	N	0.253	0.28616	-1.0846	0.06480	T	0.049	0.20908	T	10	0.0084498525	0.00192	T	0.020178	0.42720	T	.	.	.	.	0.33174030287	0.32783	0.5757872907288191	0.57507	.	.	0.490102231503	0.37452	T	0.073413	0.34691	T	-0.539113	0.00339	T	-0.597616	0.13012	T	0.0270902598089905	0.01557	T	0.941806	0.78262	D	0.2872504	0.51736	0.107755624	0.25945	0.2872504	0.51736	0.107755624	0.25945	-8.126	0.61926	D	.	.	0.110	0.21049	B	.	.	5.100630	0.85226	28.5	0.9992766759737659	0.99163	0.71429	0.35009	D	AEFI	0.158459	0.28411	N	0.025905714576666	0.43035	2.604453	-0.0364214014129402	0.38083	2.238743	1.51361127134561E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	5.652000	0.67632	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.091:0.0:0.909:0.0	11.222	0.48089	900	0.24599	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	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	0.002475	0.000000	0.001712	0.015385	0.000000	0.000000	0.000000	0.011628	0.08333	484.83	43	chr10	17866565	.	G	A	484.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.489;SOR=0.614	GT:AD:DP:GQ:PL	0/1:24,19:43:99:495,0,619	5	0	1	0
chr10	37219886	37219886	G	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.G4006C:p.A1336P	.	559	961	2	0	0	2	0.0010395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00229684252699	0.0002	0.000199681	0.0005	0	0.0003	0	0	0.0003	0	0.0019	0.0002135	33	154602	rs201764363	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	0.0003	4.499e-05	0	0	0.0011	0.0002	0.0002	0.0017	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	8.913e-05	0.0004	0.0003	4.903e-05	0	0.0003	0	0	0	0.0070	0.0001	0	0.0010	0.002	0.72154	D	0.007	0.72224	D	0.969	0.56768	D	0.651	0.52497	P	.	.	.	.	0.996661	0.22942	N	2.37	0.68279	M	2.31	0.16794	T	-4.03	0.74348	D	0.139	0.13769	-1.0654	0.10456	T	0.067	0.27434	T	9	0.017991722	0.00388	T	0.002297	0.04424	T	0.032	0.07718	.	.	0.115124310173	0.11017	0.0021689379279710447	0.00200	0.0546325042967	0.06044	0.697071671486	0.66722	T	0.058666	0.40608	T	-0.551628	0.00285	T	-0.605685	0.12339	T	0.246383265919249	0.22710	T	0.458654	0.13238	T	0.18570754	0.39946	0.3954661	0.64213	0.18570754	0.39946	0.3954661	0.64213	-5.438	0.41284	T	.	.	0.760	0.75495	P	.;.;.;.	.;.;.;.	1.533691	0.19678	14.38	0.9927950291438743	0.57869	0.13409	0.17839	N	AEFI	0.292720	0.40352	N	-0.288162678505378	0.29603	1.643201	-0.536621110524367	0.21161	1.143497	0.998259362674075	0.36648	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.65	1.72	0.23498	0.275000	0.18461	-0.629000	0.08134	0.319000	0.19345	0.081000	0.22364	0.000000	0.08366	0.118000	0.19084	0.1506:0.0:0.8494:0.0	6.898	0.23445	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil 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	1	0	0	0	0.004578	0.000000	0.002725	0.005882	0.000000	0.008621	0.003145	0.011450	0.08333	568.83	18	chr10	37219886	.	G	C	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.783;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.771;SOR=0.48	GT:AD:DP:GQ:PL	0/1:14,20:34:99:579,0,413	5	0	1	0
chr10	38118649	38118649	T	C	exonic	ZNF37A	.	nonsynonymous SNV	ZNF37A:NM_001178101:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324245:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324248:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324249:exon7:c.T1498C:p.C500R,ZNF37A:NM_003421:exon7:c.T1498C:p.C500R,ZNF37A:NM_001007094:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324246:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324247:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324250:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324251:exon8:c.T1498C:p.C500R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0122642170545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.932	0.66722	D	.	.	.	.	0.999	0.45307	D	4.505	0.98992	H	0.28	0.59037	T	-11.84	0.99564	D	0.616	0.67908	-0.2993	0.75004	T	0.394	0.74721	T	9	0.81698203	0.80929	D	0.012264	0.30673	T	0.342	0.66392	0.674	0.81200	0.765230945877	0.76308	0.1623753690396243	0.16157	0.296373391645	0.32023	0.734372496605	0.72146	T	0.484733	0.81192	T	0.159039	0.70112	D	-0.0093283	0.69728	D	0.998791038990021	0.95188	D	0.588241	0.21547	T	0.8706033	0.88909	0.79100853	0.87708	0.8706033	0.88911	0.79100853	0.87709	-11.804	0.83883	D	.	.	0.929	0.86225	P	.;.	.;.	3.688236	0.52538	23.2	0.99623808886880871	0.75594	0.00125	0.00780	N	AEFGBHCI	0.245706	0.36659	N	0.5468345307865	0.69888	5.421659	0.361858499962466	0.59225	4.098593	0.00202698501741518	0.09096	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	2.34	1.21	0.20240	3.552000	0.53452	4.137000	0.42065	0.604000	0.46097	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.1647:0.0:0.8353	5.235	0.14762	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	567.83	36	chr10	38118649	.	T	C	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.827;DP=242;ExcessHet=0;FS=3.613;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.506;SOR=0.354	GT:AD:DP:GQ:PL	0/1:36,24:60:99:578,0,965	5	0	1	0
chr10	47761593	47761595	CAG	-	exonic	LOC102724488;SYT15	.	nonframeshift deletion	LOC102724488:NM_001370183:exon2:c.58_60del:p.L21del,LOC102724488:NM_001370184:exon2:c.58_60del:p.L21del,SYT15:NM_031912:exon2:c.58_60del:p.L21del,SYT15:NM_181519:exon2:c.58_60del:p.L21del	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309361127	0.0005	0.0028	0.0005	0.0005	0.0008	0.0005	0.0004	0.0005	0.0005	0.0003	0.0006	0.0004	0.0005	0.0005	0.0008	0.0005	0.0003	0.0004	2.077e-05	5.947e-05	4.022e-05	0	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.931e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	85.03	10	chr10	47761592	.	ACAG	A	85.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.707;DP=137;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=36.05;MQRankSum=1.33;QD=2.02;ReadPosRankSum=-1.289;SOR=0.865	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,413	4	0	2	0
chr10	47922539	47922539	C	-	exonic	NPY4R;NPY4R2	.	frameshift deletion	NPY4R:NM_001278794:exon2:c.552delC:p.H185Tfs*76,NPY4R2:NM_001278795:exon2:c.552delC:p.H185Tfs*76	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs557565719	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0024	0.0023	0	3.154e-05	0	0	8.057e-05	0.0002	5.465e-05	0.0003	0.0028	4.893e-05	0.0001	3.135e-05	6.8e-05	0.0011	2.056e-05	1.453e-05	0.0003	0.0002	0	0	8.879e-05	0	0	0	0	3.517e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	787.79	36	chr10	47922538	.	TC	T	787.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.643;DP=256;ExcessHet=0;FS=5.373;MLEAC=1;MLEAF=0.083;MQ=26.93;MQRankSum=-1.248;QD=11.1;ReadPosRankSum=0.053;SOR=2.538	GT:AD:DP:GQ:PL	0/1:44,27:71:99:798,0,1432	5	0	1	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	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	0.046078	0.069149	0.032787	0.079832	0.000000	0.023810	0.015957	0.000000	0.08333	1035.83	39	chr10	49132145	.	C	T	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.931;DP=392;ExcessHet=0;FS=2.639;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.079;SOR=0.556	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1046,0,1500	5	0	1	0
chr10	50095686	50095686	-	CC	exonic	WASHC2A	.	frameshift insertion	WASHC2A:NM_001005751:exon15:c.1328_1329insCC:p.G444Lfs*54,WASHC2A:NM_001291398:exon15:c.1328_1329insCC:p.G444Lfs*54,WASHC2A:NM_001330102:exon15:c.1328_1329insCC:p.G444Lfs*54	.	523	986	13	0	0	13	0.00654912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	.	.	.	.	0.0018	0.0021	0.0017	0.0020	0.0080	0.0018	0.0018	0.0059	0.0051	0.0004	0.0010	0.0016	7.557e-05	0.0013	0.0080	0.0017	0.0022	0.0055	0.0022	0.0022	0.0020	0.0024	0.0094	0.0020	0.0019	0.0072	0.0065	0.0007	0	0.0016	0.0020	0	0.0010	0.0170	0.0030	0.0029	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1506.79	59	chr10	50095686	.	A	ACC	1506.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.326;DP=375;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.31;MQRankSum=-2.998;QD=19.07;ReadPosRankSum=0.593;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,39:79:99:0|1:50095686_A_ACC:1517,0,1542:50095686	5	0	1	0
chr10	50095688	50095689	GG	-	exonic	WASHC2A	.	frameshift deletion	WASHC2A:NM_001005751:exon15:c.1330_1331del:p.G444Sfs*8,WASHC2A:NM_001291398:exon15:c.1330_1331del:p.G444Sfs*8,WASHC2A:NM_001330102:exon15:c.1330_1331del:p.G444Sfs*8	.	523	986	13	0	0	13	0.00654912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	4.53e-05	7	154602	.	0.0016	0.0021	0.0015	0.0018	0.0073	0.0016	0.0016	0.0053	0.0046	0.0003	0.0010	0.0014	7.557e-05	0.0012	0.0073	0.0015	0.0019	0.0051	0.0022	0.0022	0.0020	0.0024	0.0094	0.0020	0.0019	0.0072	0.0064	0.0007	0	0.0016	0.0020	0	0.0010	0.0170	0.0030	0.0028	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1503.79	59	chr10	50095687	.	TGG	T	1503.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.45;MQRankSum=-3.089;QD=18.8;ReadPosRankSum=0.751;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,39:80:99:0|1:50095686_A_ACC:1514,0,1584:50095686	5	0	1	0
chr10	50095689	50095689	G	0	exonic	WASHC2A	.	.	.	.	566	659	223	63	11	360	0.209358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	10308.3	107	chr10	50095689	.	G	*	10308.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.434;DP=487;ExcessHet=0.095;FS=0.402;MLEAC=1;MLEAF=0.083;MQ=52.08;MQRankSum=-0.435;QD=25.77;ReadPosRankSum=0.555;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,39:78:99:1|0:50095686_A_ACC:3244,1619,1581:50095686	5	0	1	0
chr10	60084743	60084743	C	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon10:c.G1335A:p.M445I,ANK3:NM_001320874:exon32:c.G3933A:p.M1311I,ANK3:NM_020987:exon32:c.G3933A:p.M1311I,ANK3:NM_001204403:exon33:c.G3915A:p.M1305I,ANK3:NM_001204404:exon33:c.G3936A:p.M1312I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0117073885359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.09	0.72224	T	0.524	0.37583	P	0.095	0.30245	B	0.000096	0.51296	D	0.000000	1	0.81001	D	1.73	0.44655	L	1.54	0.30133	T	-3.47	0.67824	D	0.876	0.87373	-1.0530	0.13574	T	0.114	0.40536	T	10	0.42482513	0.57104	T	0.011707	0.29605	T	0.375	0.69358	0.509	0.60540	0.6846367038	0.68194	0.6755682541630594	0.67494	0.345293510897	0.36438	0.817125320435	0.84587	D	0.800802	0.94919	D	0.154675	0.69705	D	-0.0155963	0.69318	D	0.986304223537445	0.77057	D	0.975402	0.91282	D	0.25492194	0.48523	0.30202013	0.56234	0.25492194	0.48523	0.30202013	0.56234	-10.165	0.77913	D	0.6421463896036133	0.71302	0.963	0.88414	P	.;.;.;.	.;.;.;.	4.041217	0.59833	24.1	0.99272175769788307	0.57593	0.98297	0.81376	D	AEFGBI	0.926981	0.90893	D	0.43198136910289	0.63188	4.547875	0.572379252509277	0.72967	5.894011	0.999999999996405	0.74766	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.04	6.04	0.98025	7.905000	0.86479	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.579	0.99382	742	0.52873	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1529.83	33	chr10	60084743	.	C	T	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.933;DP=331;ExcessHet=0;FS=3.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.209;SOR=0.968	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1540,0,2147	5	0	1	0
chr10	62050888	62050888	C	T	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon2:c.C5T:p.A2V,ARID5B:NM_032199:exon5:c.C734T:p.A245V	.	.	.	.	.	.	.	.	0.9972	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0345551945743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	0.996	0.86255	D	0.000633	0.42799	D	0.263748	1	0.81001	D	.	.	.	1.87	0.24085	T	-3.11	0.63669	D	0.858	0.93959	-0.9468	0.41515	T	0.182	0.52904	T	9	0.6473517	0.73744	D	0.034555	0.55756	D	0.251	0.56024	0.192	0.10304	0.497815358078	0.49418	0.8860143109140984	0.88570	1.74758098799	0.90959	0.752103924751	0.74757	T	0.64333	0.89089	D	0.0651925	0.60259	T	-0.144132	0.59759	T	0.98307192325592	0.74879	D	0.90231	0.65919	D	0.18590957	0.39975	0.21277419	0.45760	0.18590957	0.39975	0.21277419	0.45759	-7.324	0.56366	T	.	.	0.922	0.87779	P	.;.	.;.	5.409781	0.90554	31	0.99932754441599558	0.99439	0.94082	0.60058	D	AEFBCIJ	0.798950	0.72535	D	0.864186983444474	0.89900	10.16595	0.861435259526614	0.93666	12.19622	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.491513	0.07944	0	0.665054	0.64577	0	.	.	6.03	6.03	0.97798	6.414000	0.73231	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.557	0.99307	727	0.54702	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	817.83	33	chr10	62050888	.	C	T	817.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=216;ExcessHet=0;FS=2.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.973;SOR=0.392	GT:AD:DP:GQ:PL	0/1:21,29:50:99:828,0,542	5	0	1	0
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C,ADAMTS14:NM_139155:exon6:c.C988T:p.R330C	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	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	0.004040	0.000000	0.004076	0.000000	0.000000	0.000000	0.009259	0.007576	0.08333	1045.83	34	chr10	70730135	.	C	T	1045.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=249;ExcessHet=0;FS=6.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.423;SOR=1.445	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1056,0,787	5	0	1	0
chr10	80132770	80132796	CCCTGCTCTGCGCGCTGACCGGACTGG	-	exonic	PLAC9	.	nonframeshift deletion	PLAC9:NM_001012973:exon1:c.8_34del:p.C6_L14del,PLAC9:NM_001331125:exon1:c.8_34del:p.C6_L14del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433307342	1.497e-06	1.368e-06	2.952e-06	0	6.668e-05	2.5e-07	9e-08	1.104e-05	4.13e-06	0	0	0	6.668e-05	0	0	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	6.806e-05	2.849e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	58.83	17	chr10	80132769	.	CCCCTGCTCTGCGCGCTGACCGGACTGG	C	58.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=65;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,204	5	0	1	0
chr10	90872018	90872018	C	T	exonic	RPP30	.	nonsynonymous SNV	RPP30:NM_001104546:exon1:c.C32T:p.A11V,RPP30:NM_006413:exon1:c.C32T:p.A11V	.	425	1066	30	1	0	32	0.0147874	.	.	.	2809458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00875228163209	0.0016	0.00139776	0.0019	0.0004	0.0016	0	0.0005	0.0026	0.0077	0.0017	0.0017788	275	154602	rs41286916	0.0017	0.0017	0.0016	0.0018	0.0161	0.0017	0.0016	0.0135	0.0125	0.0006	0.0024	0.0039	0	0.0004	0.0161	0.0017	0.0025	0.0022	0.0014	0.0014	0.0013	0.0014	0.0029	0.0012	0.0011	0.0018	0.0015	0.0003	0	0.0022	0.0014	0.0002	9.413e-05	0.0136	0.0019	0.0038	0.0029	0.5	0.07895	T	0.467	0.12776	T	0.378	0.34287	B	0.033	0.22329	B	0.281878	0.14930	N	0.675479	1	0.08975	N	0.345	0.11182	N	0.93	0.47130	T	-0.56	0.17003	N	0.116	0.19459	-1.0269	0.21462	T	0.024	0.10103	T	10	0.0033192933	0.00057	T	0.008752	0.23099	T	0.056	0.15993	.	.	0.221019684889	0.21715	0.4582648281748094	0.45744	0.0202821939172	0.01990	0.388315975666	0.23432	T	0.093489	0.39221	T	-0.568584	0.00226	T	-0.594746	0.13257	T	0.00655352430683368	0.00073	T	0.605739	0.22785	T	0.09061524	0.21209	0.048392978	0.07179	0.09061524	0.21209	0.048392978	0.07179	-4.272	0.27783	T	.	.	0.117	0.35581	B	.;.;.	.;.;.	0.625966	0.09942	6.701	0.9060409793012727	0.19857	0.01468	0.04899	N	ALL	0.064470	0.12520	N	-1.15574555951079	0.05685	0.2598519	-1.21311743078272	0.05699	0.272256	0.999999999976575	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.41	-2.26	0.06478	-0.315000	0.08122	-0.238000	0.10617	-0.916000	0.02226	0.001000	0.13787	0.062000	0.22056	0.030000	0.13115	0.3003:0.2656:0.134:0.3002	0.274	0.00219	916	0.20744	.;.;.	.	.	.	.	.	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	0.019134	0.015152	0.032609	0.023392	0.000000	0.008621	0.006098	0.007576	0.08333	579.83	33	chr10	90872018	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.713;DP=229;ExcessHet=0;FS=2.33;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.566;SOR=0.41	GT:AD:DP:GQ:PL	0/1:33,24:57:99:590,0,862	5	0	1	0
chr10	104315511	104315511	G	A	exonic	ITPRIP	.	nonsynonymous SNV	ITPRIP:NM_001272012:exon2:c.C541T:p.R181W,ITPRIP:NM_001272013:exon2:c.C541T:p.R181W,ITPRIP:NM_033397:exon3:c.C541T:p.R181W	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0306755218873	0.0011	0.00179712	0.0020	9.667e-05	0.0010	0	0.0064	0.0015	0.0033	0.0054	0.0019146	296	154602	rs151176986	0.0020	0.0020	0.0019	0.0021	0.0055	0.0019	0.0019	0.0051	0.0049	0.0002	0.0011	0	2.519e-05	0.0056	0.0014	0.0018	0.0018	0.0055	0.0016	0.0016	0.0013	0.0019	0.0039	0.0014	0.0014	0.0026	0.0021	0.0003	0	0.0024	0	0	0.0058	0.0034	0.0016	0.0014	0.0039	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.914	0.64984	D	0.000451	0.44317	D	0.188338	0.976548	0.25367	N	2.455	0.71248	M	1.74	0.26301	T	-4.27	0.76254	D	0.374	0.44090	-0.9879	0.33126	T	0.096	0.36263	T	10	0.0067732036	0.00154	T	0.030676	0.52936	D	0.146	0.38789	.	.	0.334161072951	0.33023	0.5544097152114268	0.55367	0.694266774681	0.60757	0.535265505314	0.43777	T	0.556955	0.85100	D	-0.384844	0.02903	T	-0.323798	0.42157	T	0.0643895491591312	0.07841	T	0.920508	0.71260	D	0.15818763	0.35601	0.15538894	0.36427	0.15818763	0.35601	0.15538894	0.36426	-6.608	0.51115	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	4.188283	0.63110	24.5	0.99891717176940842	0.96589	0.87875	0.47567	D	AEFDGBCI	0.739746	0.68420	D	0.349294427674438	0.58703	4.044158	0.275779106565319	0.54129	3.578842	0.999993976257333	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.68	2.21	0.27042	1.552000	0.35852	3.349000	0.37769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1048:0.6959:0.1994	12.111	0.53141	140	0.94439	.;.;.;.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	1675.83	37	chr10	104315511	.	G	A	1675.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.15;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-2.251;SOR=0.657	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1686,0,1932	5	0	1	0
chr10	122579682	122579682	T	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_001320644:exon10:c.T784A:p.Y262N,DMBT1:NM_001377530:exon10:c.T784A:p.Y262N,DMBT1:NM_004406:exon10:c.T784A:p.Y262N,DMBT1:NM_007329:exon10:c.T784A:p.Y262N,DMBT1:NM_017579:exon10:c.T784A:p.Y262N	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.00559105	0.0027	0	8.657e-05	0	0	0	0.0011	0.0193	0.0010758	28	26028	rs201456825	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0175	5.975e-05	0.0002	0	5.038e-05	0	0.0005	1.259e-05	0.0015	0.0186	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0002	0	0.0002	0	0	2.94e-05	0.0009	0.0207	0.325	0.13349	T	0.313	0.19539	T	0.003	0.41496	B	0.017	0.38566	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	1.73	0.26445	T	-0.25	0.11008	N	0.085	0.11054	-0.9596	0.39255	T	0.013	0.05177	T	9	0.0069723427	0.00159	T	.	.	.	0.025	0.05312	.	.	0.104622674875	0.10061	0.09361959604983935	0.09293	0.0816263488406	0.09187	0.503531813622	0.39319	T	0.018238	0.14740	T	-0.673427	0.00052	T	-0.727134	0.04459	T	0.0305798334706229	0.02080	T	0.0817918	0.00624	T	0.03247091	0.03279	0.042905748	0.05217	0.03247091	0.03278	0.042905748	0.05217	-2.171	0.50124	T	.	.	0.083	0.21766	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.682613	0.00202	0.003	0.44129467927241522	0.03371	0.00844	0.03380	N	AEFBI	0.076482	0.15388	N	-2.40409834480792	0.00026	0.001143536	-2.43944287999266	0.00032	0.001401808	0.999846902823751	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.07	-8.14	0.00941	-7.571000	0.00043	.	.	-1.932000	0.00498	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4369:0.0:0.1901:0.3729	5.245	0.14810	832	0.38914	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	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	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3212.83	36	chr10	122579682	.	T	A	3212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.497;DP=401;ExcessHet=0;FS=5.423;MLEAC=1;MLEAF=0.083;MQ=56.19;MQRankSum=-5.93;QD=18.9;ReadPosRankSum=0.781;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,83:170:99:0|1:122579675_T_C:3223,0,3374:122579675	5	0	1	0
chr10	122579683	122579683	A	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_001320644:exon10:c.A785G:p.Y262C,DMBT1:NM_001377530:exon10:c.A785G:p.Y262C,DMBT1:NM_004406:exon10:c.A785G:p.Y262C,DMBT1:NM_007329:exon10:c.A785G:p.Y262C,DMBT1:NM_017579:exon10:c.A785G:p.Y262C	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00559105	0.0027	0	8.64e-05	0.0001	0	0	0.0011	0.0193	0.0010758	28	26028	rs199611914	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0175	5.975e-05	0.0002	0	5.038e-05	0	0.0005	1.259e-05	0.0015	0.0186	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0002	0	0.0002	0	0	2.94e-05	0.0009	0.0207	0.175	0.22400	T	0.177	0.30143	T	0.867	0.64070	P	0.77	0.59150	P	.	.	.	.	0.973673	0.39043	D	2.44	0.70756	M	1.6	0.28604	T	-1.66	0.41809	N	0.196	0.28965	-0.8665	0.50790	T	0.071	0.29001	T	9	0.009742469	0.00219	T	.	.	.	0.098	0.28162	.	.	0.137902524267	0.13322	0.11397847306384282	0.11325	0.340323633844	0.35971	0.500779211521	0.38937	T	0.078338	0.35868	T	-0.644662	0.00078	T	-0.685815	0.06634	T	0.0489055190853179	0.05306	T	0.112489	0.00893	T	0.058377314	0.11738	0.10576186	0.25429	0.058377314	0.11737	0.10576186	0.25429	-5.962	0.76956	T	.	.	0.420	0.68813	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.151696	0.05437	1.910	0.81666837710790441	0.13799	0.01281	0.04472	N	AEFBI	0.074985	0.15045	N	-1.4256618569216	0.02415	0.1066133	-1.64254689613368	0.01415	0.06396438	0.990602129350424	0.32208	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.07	-6.64	0.01635	-4.399000	0.00275	.	.	-2.627000	0.00229	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.424:0.3155:0.2604:0.0	7.858	0.28655	832	0.38914	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	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	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3212.83	36	chr10	122579683	.	A	G	3212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=401;ExcessHet=0;FS=5.423;MLEAC=1;MLEAF=0.083;MQ=56.19;MQRankSum=-5.93;QD=18.9;ReadPosRankSum=1.07;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,83:170:99:0|1:122579675_T_C:3223,0,3374:122579675	5	0	1	0
chr10	122990362	122990362	A	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon6:c.A1066C:p.K356Q	.	506	1012	4	0	0	4	0.00197239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	.	0.0004	0	0.0037	0	0	0	0	0.0009	5.17e-05	8	154602	rs759581703	7.636e-05	7.868e-05	5.583e-05	9.782e-05	0.0012	6.392e-05	5.931e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0012	6.037e-05	0.0001	0.0003	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	.	.	.	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030785054	0.01207	T	.	.	.	.	.	.	.	.	.	0.1839233886505689	0.18311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550545	0.18982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.	.	3.496916	0.48908	22.7	0.99149545716180632	0.53765	0.92411	0.55650	D	AEFDBI	0.301201	0.40978	N	0.227461860354794	0.52533	3.426923	0.291158319244811	0.55023	3.665791	0.999965265329729	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.92	4.92	0.64147	2.195000	0.42310	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8431:0.1568:0.0:0.0	10.937	0.46461	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	558.83	42	chr10	122990362	.	A	C	558.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.061;DP=223;ExcessHet=0;FS=3.062;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.468;SOR=0.303	GT:AD:DP:GQ:PL	0/1:17,22:39:99:569,0,444	5	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-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	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,18:106:99:0|1:124989533_G_A:360,0,3617:124989533	0	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:100,13:113:99:146,0,3396	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding 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	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,8:94:73:0|1:124994523_G_A:73,0,3506:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding 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	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:84,9:93:26:26,0,2620	0	0	6	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding 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	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,9:106:86:0|1:124994577_C_A:86,0,3978:124994577	0	0	6	0
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	45.69	144	chr10	125003062	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.274;DP=740;ExcessHet=0.4139;FS=16.691;MLEAC=2;MLEAF=0.25;MQ=57.04;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.39;SOR=1.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,5:67:23:0|1:125003062_T_A:23,0,2569:125003062	2	0	2	2
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	45.69	140	chr10	125003065	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.037;DP=736;ExcessHet=0.4139;FS=16.543;MLEAC=2;MLEAF=0.25;MQ=57.06;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.12;SOR=1.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,5:67:23:0|1:125003062_T_A:23,0,2569:125003062	2	0	2	2
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	207.7	149	chr10	131970666	.	G	A	207.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.118;DP=455;ExcessHet=0;FS=183.766;MLEAC=1;MLEAF=0.1;MQ=59.83;MQRankSum=-0.344;QD=1.27;ReadPosRankSum=-0.262;SOR=7.978	GT:AD:DP:GQ:PL	0/1:110,53:163:99:217,0,2206	4	0	1	1
chr10	133129175	133129198	CAGCTCGCGCACAGACAGCCCCCC	-	exonic	ADGRA1	.	nonframeshift deletion	ADGRA1:NM_001291085:exon4:c.1056_1079del:p.R355_S362del,ADGRA1:NM_001083909:exon7:c.1347_1370del:p.R452_S459del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.43e-06	1.368e-06	2.822e-06	0	1.261e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.266e-07	0	1.261e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	672.79	33	chr10	133129174	.	GCAGCTCGCGCACAGACAGCCCCCC	G	672.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=226;ExcessHet=0;FS=1.235;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.304;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,18:39:99:683,0,756	5	0	1	0
chr11	557469	557469	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon7:c.G643A:p.V215M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0150298998923	7.7e-05	.	3.352e-05	0.0004	0	0	0	0	0	0	1.94e-05	3	154602	rs148920876	1.165e-05	1.163e-05	4.091e-06	1.93e-05	0.0002	7.1e-06	5.8e-06	7.721e-05	5.311e-05	0.0002	0	0	2.524e-05	0	0.0002	5.402e-06	1.659e-05	2.328e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-05	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.005	0.91255	D	0.02	0.60972	D	0.984	0.60733	D	0.222	0.37884	B	0.699403	0.06193	N	1.222870	0.999281	0.21411	N	.	.	.	1.47	0.31987	T	-1.1	0.51811	N	0.481	0.51583	-1.0226	0.22866	T	0.048	0.20474	T	10	0.08046287	0.13063	T	0.01503	0.35522	T	0.098	0.28162	.	.	0.28722502521	0.28325	0.08877719080426505	0.08810	0.222060016739	0.24739	.	.	.	0.044193	0.29186	T	-0.289171	0.09720	T	-0.404841	0.32822	T	0.138692836788967	0.16162	T	0.759024	0.38317	T	0.10810985	0.25563	0.09498403	0.22506	0.10810985	0.25563	0.09498403	0.22505	-7.782	0.59574	D	.	.	0.201	0.53618	B	.;.;.	.;.;.	3.297930	0.45254	22.1	0.99707201457395467	0.81074	0.33266	0.24787	N	AEFDBHCI	0.119956	0.23390	N	-0.474168611779943	0.22929	1.227773	-0.586390744882981	0.19847	1.06672	0.999999663085889	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.493711	0.08198	1	0.620976	0.48614	0	.	.	4.16	2.29	0.27658	0.737000	0.25812	2.988000	0.35869	0.576000	0.29215	0.000000	0.06391	0.996000	0.32793	0.088000	0.17685	0.0:0.7969:0.0:0.2031	7.829	0.28492	912	0.21483	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1298.83	37	chr11	557469	.	C	T	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.072;DP=269;ExcessHet=0;FS=5.443;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.665;SOR=1.255	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1309,0,1035	5	0	1	0
chr11	1016833	1016833	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5968A:p.Q1990K	.	281	1179	59	3	0	65	0.0268262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.0066	0.0054	0.0137	0.0052	0.0059	0.0068	0.0066	0.0025	0.0052134	806	154602	rs71472140	3.434e-06	0.0017	1.367e-06	5.521e-06	2.519e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	2.519e-05	1.879e-05	0	1.807e-06	1.661e-05	0	2.069e-05	0.0071	1.351e-05	2.818e-05	8.309e-05	5.5e-06	2.53e-06	2.202e-05	1.11e-05	8.309e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.06	0.08197	N	2.13	0.19588	T	-0.27	0.11366	N	0.04	0.01347	-0.9752	0.36082	T	0.017	0.07187	T	9	0.0052206814	0.00114	T	.	.	.	0.007	0.00512	.	.	0.144782658237	0.14088	0.13176804686492347	0.13101	0.15740334082	0.17771	0.169174268842	0.00029	T	0.02147	0.16712	T	-0.367096	0.03743	T	-0.765084	0.02933	T	0.0911382230154741	0.11353	T	.	.	.	0.054971293	0.10621	0.04779059	0.06962	0.054971293	0.10621	0.04779059	0.06962	-4.265	0.27683	T	.	.	0.066	0.02228	B	.	.	-0.805330	0.01096	0.049	0.58088108874946298	0.05914	0.01441	0.04838	N	AEFDGBCI	0.026879	0.02097	N	-1.70474050646289	0.00825	0.0356758	-1.75322499355266	0.00921	0.04121295	0.999999157703228	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	2.97	-4.45	0.03298	-1.290000	0.02886	-8.924000	0.00893	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3598:0.3829:0.2573	6.937	0.23652	830	0.39242	.	.	.	.	.	.	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	0.010585	0.005051	0.000000	0.052941	0.000000	0.008621	0.003049	0.003788	0.08333	908.83	1002	chr11	1016833	.	G	T	908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.997;DP=3866;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=55.22;MQRankSum=-5.443;QD=1.93;ReadPosRankSum=-0.694;SOR=0.695	GT:AD:DP:GQ:PL	0/1:420,52:472:99:919,0,17360	5	0	1	0
chr11	1016836	1016836	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5965C:p.F1989L	.	286	1207	4	2	23	31	0.00330306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0026347019277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767686248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.691	0.05901	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.03	0.25572	L	2.51	0.14284	T	0.23	0.04613	N	0.094	0.07398	-0.9351	0.43379	T	0.020	0.08593	T	9	0.046284944	0.03800	T	0.002635	0.05349	T	0.006	0.00375	0.186	0.09517	0.159798565429	0.15598	0.12369059151633219	0.12295	0.495164995704	0.48060	0.229721695185	0.01947	T	0.010995	0.09867	T	-0.297947	0.08855	T	-0.665757	0.07882	T	0.0600685606641668	0.07180	T	.	.	.	0.034599863	0.03913	0.03794508	0.03556	0.034599863	0.03912	0.03794508	0.03556	-7.999	0.61064	D	.	.	0.616	0.69538	P	.	.	0.875729	0.12489	9.019	0.82907023799693025	0.14439	0.02097	0.06220	N	AEFDGBCI	0.028451	0.02507	N	-1.28950065290998	0.03800	0.1704365	-1.41303969728106	0.03121	0.1449693	0.999996397100607	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	3.08	-3.37	0.04591	-0.635000	0.05568	-7.718000	0.01099	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4262:0.1596:0.1036:0.3107	0.911	0.01214	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	113.83	1058	chr11	1016836	.	A	G	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.137;DP=3983;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=55.27;MQRankSum=-5.494;QD=0.25;ReadPosRankSum=-0.364;SOR=0.698	GT:AD:DP:GQ:PL	0/1:417,33:469:99:124,0,17474	5	0	1	0
chr11	1016853	1016853	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5948G:p.P1983R	.	277	1238	5	2	0	9	0.00362173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00488159289563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160258722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.054	0.47097	T	0.937	0.52445	P	0.328	0.42011	B	.	.	.	.	1	0.08975	N	2.275	0.64647	M	2.17	0.19020	T	-2.13	0.48354	N	0.177	0.19055	-1.0224	0.22932	T	0.038	0.16376	T	9	0.14435574	0.27396	T	0.004882	0.12255	T	0.057	0.16321	.	.	0.434384183301	0.43057	0.20827652666858598	0.20743	0.494461366654	0.48007	0.180036306381	0.00094	T	0.069987	0.33847	T	-0.276129	0.11083	T	-0.634417	0.10081	T	0.574060618877411	0.35390	D	.	.	.	0.06282277	0.13162	0.07220002	0.15548	0.06282277	0.13162	0.07220002	0.15547	-8.999	0.67691	D	.	.	0.094	0.14568	B	.	.	1.807542	0.22973	15.83	0.98805973977460848	0.46541	0.06358	0.12358	N	AEFDGBCI	0.031678	0.03434	N	-0.696097616425934	0.16133	0.8192559	-0.920967182544047	0.11600	0.5919439	0.999987668818231	0.51787	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.76	-0.959	0.09816	-0.120000	0.10633	-1.142000	0.06206	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.287:0.0:0.5109:0.2021	3.316	0.06621	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	207.83	1056	chr11	1016853	.	G	C	207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.32;DP=3957;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.19;MQRankSum=-4.834;QD=0.43;ReadPosRankSum=-0.738;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:443,37:480:99:0|1:1016837_G_A:218,0,18439:1016837	5	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	492.83	929	chr11	1016881	.	C	T	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.765;DP=3373;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.38;MQRankSum=-4.384;QD=1.23;ReadPosRankSum=-0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:363,38:401:99:503,0,15128	5	0	1	0
chr11	1016905	1016905	A	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5896A:p.F1966I	.	296	1216	10	0	0	10	0.004095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00421767754056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369592014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.395	0.15255	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.16	0.19166	T	-0.63	0.18459	N	0.144	0.14480	-0.9809	0.34794	T	0.022	0.09147	T	9	0.046243697	0.03791	T	0.004218	0.10184	T	0.002	0.00045	.	.	0.119812018005	0.11559	0.13677124270889138	0.13601	0.530745344026	0.50606	0.203865617514	0.00578	T	0.028633	0.20698	T	-0.335171	0.05730	T	-0.719227	0.04833	T	0.0654084905982018	0.07992	T	.	.	.	0.035379708	0.04153	0.033076324	0.02143	0.035379708	0.04153	0.033076324	0.02143	-9.016	0.67800	D	.	.	0.105	0.19398	B	.	.	0.557307	0.09259	6.041	0.85651716146356816	0.16026	0.01975	0.05977	N	AEFDGBCI	0.028454	0.02510	N	-1.53454620578347	0.01627	0.0711344	-1.60038129960586	0.01653	0.07503599	0.99999748474377	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-3.31	0.04677	-3.997000	0.00358	-12.137000	0.00548	-1.664000	0.00809	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3258:0.0:0.3614:0.3128	3.382	0.06835	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	547.0	856	chr11	1016905	.	A	T	547.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.805;DP=3047;ExcessHet=0;FS=1.022;MLEAC=1;MLEAF=0.083;MQ=56.37;MQRankSum=-3.786;QD=1.49;ReadPosRankSum=0.644;SOR=0.842	GT:AD:DP:GQ:PL	0/1:331,37:368:99:557,0,13787	5	0	1	0
chr11	1016947	1016947	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5854A:p.A1952T	.	310	1208	4	0	0	4	0.00165289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00510987525816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231704494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.321e-05	0.0031	2.585e-05	0	2.421e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	0	0	0	0	0	1.48e-05	0	0	0.084	0.32929	T	0.89	0.03134	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.16	0.19166	T	0.03	0.06612	N	0.021	0.00339	-0.9517	0.40678	T	0.028	0.12014	T	9	0.056096375	0.06235	T	0.00511	0.12970	T	0.005	0.00259	.	.	0.143124449307	0.13826	0.0819202071560189	0.08127	0.449518881182	0.44739	0.16749317944	0.00024	T	0.008032	0.07391	T	-0.41748	0.01775	T	-0.837458	0.01138	T	0.0973756408423132	0.12065	T	.	.	.	0.035765704	0.04273	0.054211512	0.09279	0.035765704	0.04273	0.054211512	0.09279	-6.49	0.50209	T	.	.	0.073	0.04477	B	.	.	-0.259542	0.02800	0.384	0.90664406899768024	0.19915	0.00422	0.02082	N	AEFDGBCI	0.016128	0.00345	N	-1.28484675540521	0.03857	0.1730705	-1.37142780317007	0.03560	0.166289	0.999991833278382	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-2.1	0.06809	-1.116000	0.03397	-9.636000	0.00795	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5005:0.1801:0.3194	4.543	0.11466	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	541.83	631	chr11	1016947	.	C	T	541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.066;DP=2238;ExcessHet=0;FS=4.797;MLEAC=1;MLEAF=0.083;MQ=55.29;MQRankSum=-3.425;QD=2.04;ReadPosRankSum=0.554;SOR=1.148	GT:AD:DP:GQ:PL	0/1:235,30:265:99:552,0,9777	5	0	1	0
chr11	1016967	1016967	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5834G:p.T1945R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00294092464031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760386606	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.233e-05	0.0038	4.74e-05	1.655e-05	8.59e-05	1.055e-05	6.09e-06	6e-06	2.25e-06	2.903e-05	0	8.59e-05	0	0	0	0	3.618e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.85	0.21244	L	1.79	0.25509	T	-1.1	0.28497	N	0.044	0.01658	-0.9870	0.33347	T	0.023	0.09878	T	9	0.05158657	0.05064	T	0.002941	0.06250	T	0.007	0.00512	.	.	0.12205267543	0.11705	0.16424486959422518	0.16344	0.498535268662	0.48324	0.165782406926	0.00019	T	0.026805	0.19761	T	-0.344018	0.05115	T	-0.731934	0.04241	T	0.0622811331207156	0.07524	T	.	.	.	0.11414501	0.26949	0.083269864	0.19070	0.11414501	0.26949	0.083269864	0.19070	-9.476	0.70710	D	.	.	0.067	0.02518	B	.	.	0.892625	0.12662	9.186	0.46603592230845092	0.03746	0.02299	0.06611	N	AEFDGBCI	0.025476	0.01750	N	-1.69281530757839	0.00868	0.0375355	-1.77067688520535	0.00858	0.03832809	0.999999764164092	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	2.73	-5.46	0.02404	-0.944000	0.04022	-12.379000	0.00529	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1774:0.5973:0.2253	8.098	0.30001	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	344.83	570	chr11	1016967	.	G	C	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.613;DP=2070;ExcessHet=0;FS=8.683;MLEAC=1;MLEAF=0.083;MQ=55.89;MQRankSum=-4.638;QD=1.43;ReadPosRankSum=2.41;SOR=1.521	GT:AD:DP:GQ:PL	0/1:217,24:241:99:355,0,9040	5	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	1655.92	269	chr11	1018290	.	G	A	1655.92	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.99;DP=909;ExcessHet=6.1542;FS=19.265;MLEAC=3;MLEAF=0.25;MQ=55.23;MQRankSum=-5.755;QD=2.02;ReadPosRankSum=0.586;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,18:115:99:.:.:485,0,3725:.	3	0	3	0
chr11	1085156	1085156	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.412e-05	0.0001	0	0.0002	0	1.601e-05	0	6.27e-05	3.23e-05	5	154602	rs761764745	4.453e-05	4.446e-05	5.18e-05	3.718e-05	0.0011	3.58e-05	3.262e-05	0.0008	0.0008	0.0004	0	0	0.0011	0	0	3.598e-06	1.657e-05	4.639e-05	5.252e-05	5.249e-05	5.138e-05	5.371e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.384e-05	9.621e-05	0	6.532e-05	0	0.0006	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1051.83	33	chr11	1085156	.	C	T	1051.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.997;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1062,0,1237	5	0	1	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3664.91	254	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3664.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.45;DP=2819;ExcessHet=1.7609;FS=0.538;MLEAC=1;MLEAF=0.1;MQ=55.64;MQRankSum=0.809;QD=3.11;ReadPosRankSum=3.7;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,101:274:99:.:.:3437,0,5571:.	4	0	1	1
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	113.79	81	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	113.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.095;DP=361;ExcessHet=0;FS=1.036;MLEAC=1;MLEAF=0.083;MQ=58.91;MQRankSum=-6.509;QD=1.81;ReadPosRankSum=0.649;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,7:63:99:0|1:1598173_A_AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG:124,0,2331:1598173	5	0	1	0
chr11	2413155	2413155	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon14:c.C2075A:p.P692Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.293869719443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200948792	7.137e-07	5.472e-06	0	1.446e-06	2.754e-05	0	0	.	.	0	0	0	2.754e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.19569	T	0.299	0.20422	T	0.012	0.23277	B	0.002	0.12133	B	0.307514	0.14491	U	0.503112	0.999987	0.18198	N	0	0.06538	N	-0.64	0.72125	T	-0.89	0.24026	N	0.154	0.22998	-0.9782	0.35413	T	0.145	0.46859	T	10	0.06850022	0.09695	T	0.29387	0.90656	D	0.070	0.20419	0.252	0.19067	0.0884992946249	0.08302	0.24893244875185266	0.24807	0.148584724531	0.16762	0.447237581015	0.31567	T	0.09826	0.40191	T	-0.104548	0.35671	T	-0.387953	0.34793	T	0.106949865238358	0.13105	T	0.360864	0.08314	T	0.031854834	0.03102	0.05567839	0.09811	0.031854834	0.03102	0.05567839	0.09811	-8.313	0.63183	D	.	.	0.085	0.15025	B	.;.;.;.	.;.;.;.	1.139981	0.15271	11.72	0.18036308546091193	0.00550	0.09568	0.15295	N	AEFDBI	0.108503	0.21582	N	-1.1046934060112	0.06559	0.3022872	-1.08687870969935	0.07958	0.3892295	0.0614909238699841	0.15232	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.97	1.34	0.21018	0.183000	0.16729	1.205000	0.24865	-0.138000	0.12486	0.009000	0.18154	0.854000	0.27420	0.039000	0.14166	0.6935:0.1963:0.1102:0.0	4.523	0.11372	988	0.01987	.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	35	chr11	2413155	.	G	T	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.567;DP=206;ExcessHet=0;FS=16.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.245;SOR=0.029	GT:AD:DP:GQ:PL	0/1:14,20:34:99:572,0,422	5	0	1	0
chr11	3683236	3683236	G	A	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon29:c.C4741T:p.R1581C,NUP98:NM_139132:exon29:c.C4660T:p.R1554C,NUP98:NM_001365126:exon30:c.C4933T:p.R1645C,NUP98:NM_001365127:exon30:c.C4858T:p.R1620C,NUP98:NM_001365128:exon30:c.C4831T:p.R1611C,NUP98:NM_016320:exon30:c.C4882T:p.R1628C,NUP98:NM_001365125:exon31:c.C4975T:p.R1659C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00403312838018	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372994507	1.026e-05	1.026e-05	1.089e-05	9.625e-06	5.974e-05	6.16e-06	4.89e-06	9.89e-06	4.55e-06	5.974e-05	0	0	0	0	0	1.079e-05	1.656e-05	0	1.315e-05	1.97e-05	1.285e-05	1.346e-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	0.075	0.34444	T	0.008	0.67890	D	0.005	0.25382	B	0.002	0.16460	B	0.282609	0.14917	N	0.669254	0.732682	0.30163	N	1.355	0.33814	L	.	.	.	-3.01	0.62518	D	0.193	0.24634	-0.9780	0.35458	T	0.086	0.33298	T	9	0.22408038	0.39203	T	0.004033	0.09587	T	0.141	0.37795	.	.	0.174091166621	0.17034	0.17469496401256876	0.17388	0.25891999186	0.28446	0.218123584986	0.01204	T	0.466137	0.80100	T	-0.0150209	0.49560	T	-0.259353	0.48888	T	0.884000062942505	0.53420	D	0.932107	0.74741	D	0.047266774	0.08051	0.065368585	0.13239	0.047266774	0.08051	0.065368585	0.13239	-7.967	0.60845	D	.	.	0.088	0.27880	B	.;.;.	.;.;.	3.871645	0.56212	23.7	0.99542598131906868	0.70586	0.97579	0.75677	D	AEFGBHI	0.541375	0.55755	D	-0.0999656868558597	0.37395	2.174935	0.0817673104621178	0.43632	2.660975	0.99267165669529	0.32927	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.14	4.21	0.48984	4.669000	0.61269	6.362000	0.55510	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0763:0.1319:0.6554:0.1364	6.225	0.19915	604	0.67577	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	774.83	33	chr11	3683236	.	G	A	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=2.16;SOR=0.716	GT:AD:DP:GQ:PL	0/1:47,32:79:99:785,0,1162	5	0	1	0
chr11	5178588	5178588	C	0	exonic	OR52Z1	.	.	.	.	442	140	439	496	5	1436	0.836353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	555.01	40	chr11	5178588	.	C	*	555.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.439;DP=240;ExcessHet=2.3007;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=-1.301;SOR=0.425	GT:AD:DP:GQ:PL	0/1:14,17:31:99:537,0,428	2	1	3	0
chr11	5226576	5226576	C	T	splicing	HBB	NM_000518:exon2:c.315+1G>A	.	.	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-	1	1514	7	0	0	7	0.00230643	1.0000	0.948	YES	30477	Beta-thalassemia_HBB/LCRB|Erythrocytosis,_familial,_6|METHEMOGLOBINEMIA,_BETA_TYPE|Hb_SS_disease|Heinz_body_anemia|Hereditary_persistence_of_fetal_hemoglobin|Malaria,_susceptibility_to|Dominant_beta-thalassemia|not_specified|Beta_zero_thalassemia|not_provided|beta_Thalassemia	MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985|MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980|MedGen:C1840779,OMIM:617971|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848|MedGen:CN169374|MedGen:C0271980|MedGen:C3661900|MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.125e-05	0.0002	0	0	0	3.003e-05	0	6.057e-05	3.23e-05	5	154602	rs33945777	3.08e-05	3.078e-05	2.451e-05	3.714e-05	0.0010	2.348e-05	2.096e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0010	1.35e-05	0.0002	0.0001	4.601e-05	4.597e-05	5.138e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	7.893e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9103708	0.90401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409586	0.90459	D	0.63	0.97656	D	.	.	.	0.230677	0.03117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73458	P	.	.	5.304481	0.89052	29.8	0.99344039951916285	0.60291	0.96075	0.67419	D	AEFGBHCI	.	.	.	1.02008625056633	0.96331	14.56554	0.822344664021486	0.91300	10.81854	0.999999700040334	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.977528	0.81219	4.69	4.69	0.58546	5.658000	0.67673	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.517000	0.29406	0.0:1.0:0.0:0.0	15.933	0.79471	862	0.33134	Globin|Globin	.	.	.	.	.	Pathogenic	1	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	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	92	chr11	5226576	.	C	T	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=654;ExcessHet=0;FS=2.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.074;SOR=1.15	GT:AD:DP:GQ:PL	0/1:48,29:77:99:803,0,1323	5	0	1	0
chr11	5422907	5422907	G	A	exonic	OR51Q1	.	nonsynonymous SNV	OR51Q1:NM_001004757:exon1:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	3370764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0016574770183	0.0002	.	0.0003	0	8.639e-05	0	0.0015	0.0004	0	0	0.0003687	57	154602	rs141547549	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0001	0	0.0002	0.0012	0.0009	0.0003	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	7.222e-05	0	0.0003	0	0.0002	0.0016	0	0.0003	0	0	0.089	0.32141	T	0.191	0.28391	T	1.0	0.90584	D	0.999	0.92359	D	0.019593	0.27223	N	0.244803	0.999981	0.18198	N	1.85	0.49092	L	8.15	0.00286	T	-3.5	0.68178	D	0.157	0.16308	-0.8853	0.49332	T	0.002	0.00526	T	10	0.025961041	0.00775	T	0.001657	0.02728	T	0.132	0.35948	.	.	0.243398259712	0.23965	0.1627407421260048	0.16194	0.0116065001452	0.01090	0.243144780397	0.03081	T	0.011876	0.10530	T	-0.39751	0.02404	T	-0.480811	0.24361	T	0.109037866715275	0.13324	T	0.90161	0.65783	D	0.20688199	0.42877	0.15204774	0.35789	0.20688199	0.42877	0.15204774	0.35789	-4.414	0.29746	T	.	.	0.082	0.08851	B	.	.	2.137012	0.27209	17.38	0.9984443720308056	0.92489	0.21507	0.21426	N	AEFDGBHCI	0.104983	0.20989	N	-0.0626458537621814	0.39039	2.295909	-0.266194586486341	0.29220	1.635317	0.782755017465769	0.23874	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	1.839000	0.38861	.	.	0.385000	0.20450	0.013000	0.18845	0.000000	0.08366	0.017000	0.10941	0.1627:0.0:0.8373:0.0	10.251	0.42548	667	0.61242	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1951.83	94	chr11	5422907	.	G	A	1951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.53;DP=669;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.29;SOR=1.085	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1962,0,3320	5	0	1	0
chr11	5489613	5489613	A	G	exonic	OR52D1	.	nonsynonymous SNV	OR52D1:NM_001005163:exon1:c.A907G:p.I303V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0129441342365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.996	0.68779	D	0.99	0.78936	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.015	0.55033	M	1.25	0.36512	T	-0.89	0.24026	N	0.177	0.19055	-0.6746	0.61620	T	0.198	0.55357	T	10	0.37442216	0.53722	T	0.012944	0.31944	T	0.313	0.63482	0.613	0.74652	0.165133752707	0.16062	0.1039914159082935	0.10329	0.0171766405274	0.01662	0.35869115591	0.19194	T	0.002097	0.01499	T	-0.0970486	0.36914	T	-0.37718	0.36051	T	0.861193895339966	0.51160	D	0.809419	0.45992	T	0.3607741	0.57895	0.28939247	0.54959	0.3607741	0.57895	0.28939247	0.54959	-5.55	0.42333	T	.	.	0.333	0.55459	B	.	.	4.292425	0.65474	24.8	0.99837353505834381	0.91800	0.96036	0.67243	D	AEFGBHCI	0.748150	0.68999	D	0.552486894109694	0.70235	5.471662	0.48243959389732	0.66829	5.003019	0.999999999945584	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	3.623000	0.53964	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.617000	0.31819	1.0:0.0:0.0:0.0	14.723	0.68932	695	0.58372	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1022.83	45	chr11	5489613	.	A	G	1022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.52;SOR=0.59	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1033,0,1147	5	0	1	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	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	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.08333	929.83	34	chr11	17169343	.	A	C	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.828;DP=253;ExcessHet=0;FS=5.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.295;SOR=0.812	GT:AD:DP:GQ:PL	0/1:42,37:79:99:940,0,1213	5	0	1	0
chr11	18536418	18536418	T	G	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon8:c.A722C:p.Q241P,UEVLD:NM_001261382:exon9:c.A1046C:p.Q349P,UEVLD:NM_001261383:exon9:c.A1046C:p.Q349P,UEVLD:NM_001040697:exon10:c.A1112C:p.Q371P,UEVLD:NM_001261385:exon10:c.A998C:p.Q333P,UEVLD:NM_018314:exon10:c.A1112C:p.Q371P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.21845378033	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs748427358	8.895e-06	8.893e-06	8.169e-06	9.628e-06	0.0005	4.96e-06	3.82e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	6.296e-06	0	3.478e-05	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	0.056	0.57480	T	0.139	0.42086	T	0.003	0.51791	B	0.012	0.50566	B	0.010458	0.29920	N	0.351400	0.999014	0.81001	D	2.15	0.60148	M	-0.29	0.82897	T	-2.43	0.53258	N	0.672	0.71055	-0.0676	0.80832	T	0.509	0.81556	D	10	0.6854317	0.71533	D	0.218454	0.87659	D	0.451	0.75143	.	.	0.932228256787	0.93153	0.8386657762499397	0.83826	0.118816684937	0.13377	0.422471940517	0.28177	T	0.075494	0.35190	T	0.129095	0.67273	D	0.0553167	0.73933	D	0.475587636232376	0.31736	T	0.80112	0.57574	T	0.77881736	0.82581	0.59974384	0.76749	0.77881736	0.82583	0.59974384	0.76750	-6.328	0.50464	T	.	.	0.089	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.830182	0.37313	20.5	0.92661553882990999	0.22142	0.80407	0.40053	D	ALL	0.656011	0.62815	D	0.0541006133159418	0.44332	2.709157	0.136632947412659	0.46437	2.889744	0.99995297989965	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	4.202000	0.58243	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.0:0.0:1.0	12.063	0.52872	569	0.70546	Lactate/malate dehydrogenase, C-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	.	.	.	.	.	.	.	.	0.08333	1120.83	36	chr11	18536418	.	T	G	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.669;DP=266;ExcessHet=0;FS=0.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.64;SOR=0.85	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1131,0,1214	5	0	1	0
chr11	21370879	21370879	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon14:c.G1405A:p.G469S,NELL1:NM_006157:exon15:c.G1576A:p.G526S,NELL1:NM_201551:exon15:c.G1576A:p.G526S,NELL1:NM_001288713:exon16:c.G1660A:p.G554S	.	.	.	.	.	.	.	.	.	.	.	2816532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.740	0.275163330425	0.0003	0.00139776	0.0007	0.0003	0	0	0	0.0005	0.0012	0.0031	0.0006598	102	154602	rs8176788	0.0008	0.0009	0.0008	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0002	0.0001	0	2.529e-05	0	0.0003	0.0009	0.0012	0.0019	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0003	0	0	0	0	0.0008	0	0.0017	0.0	0.91255	D	0.075	0.58613	T	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-1.51	0.93291	D	-4.62	0.79399	D	0.734	0.78356	1.001	0.97197	D	0.914	0.97167	D	10	0.057688713	0.06664	T	0.275163	0.90027	D	0.740	0.90982	.	.	0.969889004412	0.96956	0.6082885983573966	0.60760	0.44573178934	0.44459	0.529697835445	0.42991	T	0.107027	0.75768	T	0.0367028	0.56612	T	0.274707	0.86833	D	0.130252653631119	0.15405	T	0.948805	0.85785	D	0.45702574	0.64486	0.4500253	0.67991	0.45702574	0.64486	0.4500253	0.67992	-8.89	0.66985	D	.	.	0.166	0.45372	B	.;.;.;.	.;.;.;.	5.170362	0.86660	29.0	0.99894476410976019	0.96742	0.98499	0.83426	D	AEFDIJ	0.933363	0.92515	D	0.927450331185441	0.93038	11.78275	0.864539922029506	0.93836	12.31449	0.999869752848136	0.44398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	8.777000	0.91421	11.686000	0.94288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.704	0.91594	981	0.03995	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like 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	.	.	.	.	.	.	.	.	0.08333	768.83	33	chr11	21370879	.	G	A	768.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=221;ExcessHet=0;FS=10.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.151;SOR=0.874	GT:AD:DP:GQ:PL	0/1:24,25:49:99:779,0,621	5	0	1	0
chr11	34957475	34957475	A	G	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001135024:exon4:c.A389G:p.K130R,PDHX:NM_003477:exon4:c.A434G:p.K145R	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1898945	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0070515273862	.	.	1.648e-05	9.626e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs371030372	2.737e-06	2.736e-06	1.361e-06	4.126e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	3.286e-05	3.284e-05	5.14e-05	1.345e-05	4.828e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.828e-05	0	0	0	0	0	0	4.41e-05	0	0	0.12	0.27904	T	0.196	0.27943	T	0.457	0.36287	P	0.119	0.32162	B	0.014052	0.28650	N	0.394655	1	0.81001	D	2.615	0.76484	M	2.65	0.25182	T	-0.96	0.25770	N	0.162	0.17002	-1.0924	0.05144	T	0.034	0.14552	T	10	0.11598998	0.21868	T	0.007052	0.18676	T	0.019	0.03383	0.314	0.28935	0.401042353794	0.39719	0.3302058579611989	0.32933	0.037617210021	0.03990	0.384444594383	0.22885	T	0.022908	0.63954	T	-0.265713	0.12238	T	-0.437927	0.29041	T	0.221016943454742	0.21515	T	0.726327	0.35246	T	0.05471112	0.10533	0.07317235	0.15872	0.05471112	0.10532	0.07317235	0.15871	-6.799	0.56231	T	0.16493990485406312	0.20416	0.084	0.12797	B	.;.;.;.	.;.;.;.	2.450888	0.31561	18.78	0.989336674071563	0.48807	0.80591	0.40189	D	AEFDBI	0.177363	0.30460	N	-0.0320362436018763	0.40408	2.399185	0.093502754033943	0.44220	2.708067	0.999915516054865	0.45857	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.93	4.8	0.61157	1.862000	0.39088	3.629000	0.39309	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.7881:0.0:0.2119:0.0	7.588	0.27171	719	0.55657	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	691.83	39	chr11	34957475	.	A	G	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.888;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.11;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,28:56:99:702,0,764	5	0	1	0
chr11	57320343	57320343	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon3:c.G464A:p.R155H	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0039	0.00499201	0.0039	0.0008	0.0089	0	0.0005	0.0052	0.0066	0.0006	0.0043272	669	154602	rs143756483	0.0055	0.0055	0.0057	0.0052	0.0095	0.0054	0.0053	0.0087	0.0084	0.0007	0.0095	0.0005	0	0.0004	0.0057	0.0064	0.0051	0.0007	0.0043	0.0043	0.0044	0.0043	0.0097	0.0040	0.0039	0.0084	0.0079	0.0014	0.0022	0.0097	0.0012	0.0002	0.0010	0.0068	0.0059	0.0142	0.0002	0.0	0.91255	D	0.042	0.50226	D	1.0	0.90584	D	0.999	0.92359	D	0.004443	0.33730	N	0.000000	0.619212	0.32690	D	0.895	0.22405	L	0.16	0.60610	T	-2.23	0.50012	N	0.733	0.77789	-0.5144	0.68124	T	0.143	0.46532	T	10	0.009022921	0.00204	T	.	.	.	0.221	0.51721	.	.	0.846546307626	0.84507	0.20284812259349452	0.20201	0.484280987442	0.47343	0.645635604858	0.59365	T	0.092855	0.39091	T	-0.198847	0.20971	T	-0.0510153	0.66953	D	0.0488599579127443	0.05299	T	0.875312	0.58632	D	0.23972932	0.46867	0.20592102	0.44784	0.23972932	0.46867	0.20592102	0.44783	-7.705	0.59042	D	.	.	0.268	0.50185	B	.;.	.;.	5.010629	0.83209	28.0	0.99950285317325982	0.99938	0.91034	0.52731	D	AEFDBI	0.627922	0.61020	D	0.462419241521181	0.64911	4.756657	0.462738237709951	0.65537	4.836587	0.999999934949015	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	4.491000	0.60048	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	14.857	0.69982	440	0.80101	.;.	.	.	.	.	.	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	0.004532	0.015152	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.08333	1013.83	33	chr11	57320343	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.049;DP=226;ExcessHet=0;FS=4.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=-0.413;SOR=1.308	GT:AD:DP:GQ:PL	0/1:18,35:53:99:1024,0,435	5	0	1	0
chr11	57460884	57460884	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon1:c.C19T:p.R7C	.	0	225	1	0	0	1	0.00221729	.	.	.	3909913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.980752407623	.	0.000599042	0.0004	0.0054	0	0	0	0	0	0	7.76e-05	12	154602	rs111949084	0.0001	0.0001	0.0001	8.619e-05	0.0038	9.759e-05	9.221e-05	0.0032	0.0030	0.0038	0.0001	0	0	0	0.0005	1.302e-05	0.0005	4.855e-05	0.0008	0.0008	0.0007	0.0008	0.0026	0.0007	0.0006	0.0022	0.0021	0.0026	0	0.0003	0	0	0	0	1.472e-05	0.0014	0	0.001	0.91255	D	0.177	0.30143	T	0.663	0.40973	P	0.183	0.35961	B	.	.	.	.	0.528845	0.31508	N	1.59	0.40313	L	0.11	0.65563	T	-1.05	0.28906	N	0.134	0.26475	-0.8378	0.52793	T	0.127	0.43380	T	9	0.015383929	0.00323	T	0.980752	0.99899	D	0.161	0.41658	.	.	0.408277909041	0.40440	0.7017304103523145	0.70114	2.23748090164	0.95990	0.873041152954	0.93001	D	0.115435	0.43402	T	-0.314502	0.07358	T	-0.229152	0.51853	T	0.0634614237309183	0.07702	T	0.845515	0.52437	T	0.28011706	0.51060	0.18425809	0.41467	0.28011706	0.51060	0.18425809	0.41466	-4.982	0.36644	T	.	.	0.300	0.55610	B	.;.;.	.;.;.	4.815524	0.78386	26.9	0.99869166775452922	0.94726	0.63815	0.32207	D	AEFDGBCI	0.116451	0.22854	N	-0.265709476208274	0.30480	1.700016	-0.238135842669714	0.30183	1.697189	0.99999995431284	0.74766	0.72623	0.87236	0	0.606814	0.50340	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.95	3.01	0.33872	1.634000	0.36736	2.088000	0.30532	0.452000	0.21348	0.941000	0.32681	1.000000	0.68203	0.937000	0.47636	0.2446:0.7554:0.0:0.0	8.644	0.33158	71	0.96981	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	91.84	20	chr11	57460884	.	C	T	91.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=66;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.144;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,4:8:99:102,0,108	5	0	1	0
chr11	59639340	59639340	T	A	exonic	PATL1	.	nonsynonymous SNV	PATL1:NM_152716:exon17:c.A2093T:p.D698V	.	440	1081	1	0	0	1	0.000462321	.	.	.	3466679	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0203975013669	.	.	4.723e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754969221	3.361e-05	3.352e-05	3.245e-05	3.479e-05	0.0006	2.59e-05	2.321e-05	0.0002	8.981e-05	0	0	0	0	0	0.0006	3.522e-05	8.632e-05	1.263e-05	3.943e-05	3.94e-05	3.855e-05	4.035e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.197	0.20607	T	0.063	0.45110	T	0.393	0.34680	B	0.141	0.33616	B	0.000056	0.53742	D	0.195541	1	0.81001	D	1.1	0.28011	L	1.02	0.40749	T	-1.66	0.39692	N	0.438	0.47672	-1.0708	0.09238	T	0.076	0.30584	T	10	0.21574384	0.38135	T	0.020398	0.42987	T	0.070	0.20419	.	.	0.0675242888579	0.06100	0.3334326729856068	0.33256	0.470588042752	0.46329	0.372203111649	0.21148	T	0.025527	0.19070	T	-0.212528	0.19025	T	-0.348087	0.39423	T	0.143036134227483	0.16533	T	0.927007	0.73102	D	0.41865522	0.62002	0.4056217	0.64957	0.41865522	0.62002	0.4056217	0.64957	-4.517	0.31110	T	.	.	0.122	0.25592	B	.	.	3.841889	0.55601	23.6	0.98178104998127036	0.38925	0.98730	0.86119	D	AEFBI	0.628116	0.61032	D	0.0241428832087368	0.42955	2.597998	0.201777530050978	0.49947	3.191932	0.998011162107758	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.677000	0.46558	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.591	0.76270	754	0.51307	mRNA decay factor PAT1 domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	340.83	40	chr11	59639340	.	T	A	340.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.735;DP=206;ExcessHet=0;FS=3.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.684;SOR=1.609	GT:AD:DP:GQ:PL	0/1:15,12:27:99:351,0,428	5	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,10:57:99:.:.:221,0,1372:.	1	0	5	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,15:60:99:.:.:242,0,1365:.	0	0	6	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	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	0.018127	0.005051	0.010870	0.014620	0.100000	0.000000	0.030488	0.037879	0.08333	421.83	45	chr11	64344322	.	G	A	421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.321;DP=227;ExcessHet=0;FS=2.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.034;SOR=0.317	GT:AD:DP:GQ:PL	0/1:26,19:45:99:432,0,682	5	0	1	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	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	0.018274	0.005208	0.010870	0.008772	0.100000	0.000000	0.037037	0.038168	0.08333	849.83	34	chr11	64352209	.	C	T	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.95;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.172;SOR=0.752	GT:AD:DP:GQ:PL	0/1:31,32:63:99:860,0,821	5	0	1	0
chr11	65537979	65537979	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon16:c.G1993A:p.D665N,SCYL1:NM_020680:exon16:c.G2044A:p.D682N	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	426	1076	18	2	0	22	0.0101196	.	.	.	724599	SCYL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	0.00966244421481	0.0012	0.000399361	0.0013	0.0004	0.0015	0	0	0.0019	0.0016	0.0005	0.000925	143	154602	rs199946104	0.0011	0.0011	0.0010	0.0011	0.0206	0.0010	0.0010	0.0176	0.0165	0.0009	0.0008	0.0111	0	5.635e-05	0.0206	0.0008	0.0025	0.0004	0.0009	0.0009	0.0011	0.0008	0.0009	0.0008	0.0008	0.0007	0.0006	0.0004	0	0.0009	0.0121	0	0	0.0136	0.0009	0.0043	0.0002	0.733	0.08813	T	0.592	0.09795	T	0.186	0.29254	B	0.006	0.16862	B	0.544722	0.05334	N	1.301530	1	0.08975	N	.	.	.	2.33	0.31731	T	0.87	0.04613	N	0.178	0.24758	-1.0390	0.17617	T	0.038	0.16548	T	10	0.004027277	0.00078	T	0.009662	0.25245	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.15940107347417007	0.15861	0.363482546623	0.37975	0.278186440468	0.07240	T	0.037192	0.24383	T	-0.651841	0.00071	T	-0.759542	0.03129	T	0.00163861668264738	0.00017	T	0.780122	0.41972	T	0.032872062	0.03395	0.024632156	0.00486	0.03128957	0.02942	0.02929668	0.01253	-3.44	0.17539	T	.	.	0.067	0.05623	B	.;.;.;.;.;.	.;.;.;.;.;.	1.855739	0.23572	16.07	0.38239398921408457	0.02567	0.14239	0.18297	N	AEFDGBCI	0.165939	0.29247	N	-1.37697946463596	0.02855	0.1266677	-1.42258336447293	0.03027	0.1404354	0.999990312932974	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.12	-1.38	0.08554	0.734000	0.25769	3.667000	0.39425	-0.132000	0.13132	0.001000	0.13787	0.905000	0.28034	0.005000	0.06747	0.1104:0.3129:0.3425:0.2343	2.047	0.03346	278	0.89047	.;.;.;.;.;.	.	.	.	.	.	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	0.024673	0.025253	0.027174	0.055556	0.000000	0.034483	0.003049	0.007576	0.08333	1038.83	33	chr11	65537979	.	G	A	1038.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=249;ExcessHet=0;FS=1.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.07;SOR=0.932	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1049,0,932	5	0	1	0
chr11	66555362	66555362	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon7:c.C713T:p.A238V,ACTN3:NM_001258371:exon7:c.C842T:p.A281V	.	296	1199	25	2	0	29	0.0119489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	0.00359425	0.0068	0.0025	0.0043	0	0.0009	0.0099	0.0066	0.0046	0.0069404	1073	154602	rs144340728	0.0084	0.0084	0.0084	0.0083	0.0163	0.0083	0.0082	0.0136	0.0126	0.0016	0.0050	0.0205	0	0.0016	0.0163	0.0094	0.0086	0.0040	0.0064	0.0064	0.0068	0.0060	0.0097	0.0061	0.0060	0.0091	0.0089	0.0019	0.0033	0.0074	0.0222	0	0.0007	0.0102	0.0097	0.0066	0.0037	.	.	.	0.859	0.10429	T	0.416	0.35222	B	0.312	0.41466	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	0.013723195	0.00290	T	.	.	.	.	.	.	.	0.618057396677	0.61496	0.6843920444954242	0.68378	.	.	0.745128154755	0.73728	T	0.384957	0.93084	T	0.0370574	0.56659	T	0.294734	0.87949	D	.	.	.	0.975469	0.91344	D	0.26528773	0.49597	0.43358165	0.66906	0.26528773	0.49597	0.43358165	0.66906	-9.369	0.70041	D	.	.	0.252	0.56959	B	.;.	.;.	4.469163	0.69627	25.4	0.99661219910328513	0.77947	0.98007	0.78823	D	AEFDBI	0.924860	0.90353	D	.	.	.	.	.	.	0.999999002257923	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.69	4.69	0.58546	7.844000	0.85149	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.190	0.72721	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	rs144340728	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	0	0	0.016616	0.005051	0.028533	0.020468	0.000000	0.017241	0.012195	0.003788	0.08333	1888.83	34	chr11	66555362	.	C	T	1888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.34;DP=347;ExcessHet=0;FS=4.164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.478;SOR=1.083	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1899,0,2421	5	0	1	0
chr11	66561343	66561343	G	A	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon16:c.G1977A:p.W659X,ACTN3:NM_001258371:exon16:c.G2106A:p.W702X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.378e-06	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.93487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.767403	0.99844	49	0.99004904028019325	0.50231	0.98742	0.86270	D	AEFDGBI	0.403925	0.47741	N	.	.	.	.	.	.	0.999999927846786	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.062806	0.01542	0	.	.	4.64	4.64	0.57399	10.003000	0.99689	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:1.0:0.0	15.041	0.71452	59	0.97452	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	725.83	86	chr11	66561343	.	G	A	725.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.698;DP=306;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.253;SOR=0.617	GT:AD:DP:GQ:PL	0/1:31,25:56:99:736,0,882	5	0	1	0
chr11	68804031	68804031	G	T	exonic	CPT1A	.	nonsynonymous SNV	CPT1A:NM_001031847:exon5:c.C524A:p.P175Q,CPT1A:NM_001876:exon5:c.C524A:p.P175Q	CPT deficiency, hepatic, type IA, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.766714460368	.	0.000199681	8.242e-05	0	0	0	0	2.999e-05	0	0.0005	7.12e-05	11	154602	rs561244283	1.163e-05	1.231e-05	1.225e-05	1.1e-05	0.0001	7.09e-06	5.79e-06	7.998e-05	6.237e-05	0	0	0	0	0	0	1.799e-06	4.968e-05	0.0001	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.035	0.96960	H	-5.19	0.98838	D	-5.72	0.88289	D	0.839	0.83576	1.036	0.97824	D	0.982	0.99453	D	10	0.97734874	0.97562	D	0.766714	0.98152	D	0.960	0.99376	0.851	0.95260	0.971374388957	0.97106	0.9108423430555826	0.91058	1.21106681549	0.80841	0.551061749458	0.46007	T	0.972988	0.99717	D	0.335807	0.85553	D	0.566554	0.96104	D	0.936500430107117	0.60554	D	0.988601	0.96130	D	0.7188033	0.79095	0.76061416	0.85856	0.7188033	0.79096	0.76061416	0.85857	-11.794	0.84172	D	0.6964449946220405	0.77486	0.597	0.68751	P	.;.;.;.	.;.;.;.	4.634185	0.73709	26.0	0.98979757056005402	0.49700	0.98034	0.79045	D	AEFDBHI	0.930538	0.91799	D	0.762121812684434	0.83690	8.08439	0.585359068861909	0.73888	6.04498	0.998463833065968	0.37014	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.11	4.16	0.48138	6.622000	0.74100	11.550000	0.93175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.0:0.1418:0.8582:0.0	15.182	0.72653	873	0.30802	.;.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase 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	.	.	.	.	.	.	.	.	0.08333	1650.83	34	chr11	68804031	.	G	T	1650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.347;SOR=0.671	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1661,0,1210	5	0	1	0
chr11	76513454	76513454	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon10:c.C1435G:p.P479A,EMSY:NM_020193:exon10:c.C1432G:p.P478A,EMSY:NM_001300942:exon11:c.C1477G:p.P493A,EMSY:NM_001300944:exon11:c.C1477G:p.P493A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00382547113171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.52492	T	0.078	0.47336	T	0.478	0.36706	P	0.13	0.32896	B	0.000000	0.84330	D	0.050794	0.997807	0.51968	D	0.805	0.20218	L	.	.	.	-1.94	0.89534	N	0.417	0.52829	-0.8941	0.48567	T	0.147	0.47255	T	9	0.24682313	0.41953	T	0.003825	0.08930	T	0.097	0.27909	0.242	0.17524	0.0675242888579	0.06100	0.17967006694623153	0.17886	1.24959129164	0.81768	.	.	.	0.028626	0.39657	T	-0.00613085	0.50807	T	-0.246583	0.50155	T	0.9045569896698	0.55805	D	0.939506	0.78138	D	0.27501443	0.50566	0.2721056	0.53118	0.27501443	0.50566	0.2721056	0.53117	-6.846	0.53306	T	.	.	0.172	0.44293	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.576654	0.72255	25.8	0.98811010871014882	0.46623	0.86952	0.46351	D	AEFGBHCI	0.624023	0.60775	D	0.190817396607802	0.50758	3.262855	0.340955517890798	0.57965	3.964449	0.997607743441855	0.35808	0.758104	0.99027	0	0.653731	0.59785	0	0.630245	0.45026	0	0.665031	0.64506	0	.	.	5.46	5.46	0.80021	4.673000	0.61297	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.316	0.94199	872	0.31118	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	759.83	36	chr11	76513454	.	C	G	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.866;SOR=0.844	GT:AD:DP:GQ:PL	0/1:27,27:54:99:770,0,764	5	0	1	0
chr11	77040152	77040152	C	T	exonic	B3GNT6	.	nonsynonymous SNV	B3GNT6:NM_138706:exon2:c.C601T:p.H201Y	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00564726144653	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916807620	6.219e-06	7.525e-06	2.752e-06	9.715e-06	8.117e-05	2.93e-06	2.12e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	8.997e-07	1.66e-05	8.117e-05	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	.	.	.	0.015	0.61642	D	0.836	0.46303	P	0.366	0.43381	B	0.002991	0.35606	N	0.279124	0.973775	0.39051	D	2.3	0.65703	M	.	.	.	.	.	.	0.283	0.32037	-0.7827	0.56149	T	0.139	0.45640	T	10	0.3380911	0.50920	T	0.005647	0.14621	T	.	.	0.598	0.72862	0.395894371353	0.39203	0.6721951907526512	0.67157	.	.	0.77609705925	0.78339	T	0.060356	0.31366	T	-0.176287	0.24291	T	-0.309473	0.43716	T	0.920013725757599	0.57900	D	0.865113	0.56350	D	0.32901496	0.55390	0.496593	0.70889	0.32901496	0.55390	0.496593	0.70889	-8.582	0.64970	D	0.2440257969883037	0.33054	0.512	0.65136	A	.	.	3.827559	0.55303	23.6	0.99602761438727383	0.74338	0.84870	0.43963	D	AEFDBCI	0.390386	0.46924	N	0.212327681241837	0.51797	3.358126	0.17250151370201	0.48347	3.051761	0.999725024697252	0.42220	0.615755	0.39536	0	0.618376	0.53248	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.28	3.28	0.36691	0.042000	0.13834	2.569000	0.33354	0.520000	0.23804	0.877000	0.30928	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	12.828	0.57112	502	0.75873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1543.83	33	chr11	77040152	.	C	T	1543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.331;DP=322;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.664;SOR=0.831	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1554,0,1461	5	0	1	0
chr11	78465958	78465958	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon11:c.A401G:p.N134S,NARS2:NM_024678:exon11:c.A1082G:p.N361S	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	414	1097	11	0	0	11	0.00498866	.	.	.	713196	not_specified|NARS2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	0.0246044422804	0.0008	0.000399361	0.0015	0	0.0003	0	0.0005	0.0009	0.0044	0.0068	0.0012872	199	154602	rs150355410	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0068	0.0066	5.976e-05	0.0005	0.0038	0	0.0004	0.0033	0.0004	0.0010	0.0073	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	9.623e-05	0	0.0012	0.0026	0	0.0002	0.0034	0.0007	0.0005	0.0056	0.068	0.36310	T	0.056	0.46862	T	0.001	0.07471	B	0.009	0.14300	B	0.006470	0.32011	N	0.382752	0.924485	0.36776	D	0.87	0.21467	L	-1.84	0.84195	D	-1.14	0.29323	N	0.176	0.19593	-0.4542	0.70261	T	0.409	0.75810	T	10	0.008098215	0.00184	T	0.024604	0.47597	T	0.186	0.46104	.	.	0.647459595057	0.64453	0.4144245884794886	0.41358	0.0400337810157	0.04279	0.285364836454	0.08251	T	0.34181	0.75956	T	-0.469702	0.00854	T	-0.443046	0.28468	T	0.0222564231528155	0.00937	T	0.847515	0.55085	T	0.07305988	0.16298	0.058001664	0.10643	0.04312842	0.06665	0.051105518	0.08157	-5.742	0.44066	T	0.2106537040487836	0.28228	0.100	0.17317	B	.;.;.	.;.;.	1.454477	0.18762	13.91	0.88522829126518043	0.18043	0.77924	0.38373	D	AEFDGBCI	0.247440	0.36802	N	-0.472361943260293	0.22989	1.231411	-0.348210770589493	0.26564	1.468124	0.999991960091654	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.59	2.27	0.27501	2.491000	0.44961	0.922000	0.22712	-0.176000	0.10722	0.763000	0.29277	0.718000	0.26334	0.992000	0.67800	0.0:0.1694:0.0:0.8306	8.268	0.30984	668	0.61153	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.;Aminoacyl-tRNA synthetase, class II (D/K/N)	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	945.83	35	chr11	78465958	.	T	C	945.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=242;ExcessHet=0;FS=3.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.844;SOR=0.384	GT:AD:DP:GQ:PL	0/1:31,37:68:99:956,0,804	5	0	1	0
chr11	92800389	92800389	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A7376G:p.Q2459R,FAT3:NM_001367949:exon10:c.A7376G:p.Q2459R	.	432	1086	4	0	0	4	0.00183824	.	.	.	2813662	not_provided|FAT3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.298	0.0186122392787	0.0044	0.00139776	0.0032	0.0010	0.0007	0	0.0011	0.0052	0.0011	0.0004	0.0034023	526	154602	rs118056487	0.0051	0.0051	0.0052	0.0050	0.0062	0.0050	0.0050	0.0061	0.0061	0.0009	0.0010	0.0039	2.52e-05	0.0015	0.0010	0.0062	0.0036	0.0004	0.0032	0.0031	0.0035	0.0027	0.0053	0.0029	0.0028	0.0049	0.0047	0.0010	0	0.0032	0.0035	0	0.0011	0	0.0053	0.0005	0.0004	0.664	0.04757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998595	0.45136	D	-1.105	0.00963	N	1.16	0.38073	T	-0.69	0.20145	N	0.609	0.65245	-0.9611	0.38974	T	0.049	0.20908	T	9	0.011182457	0.00246	T	0.018612	0.40730	T	0.298	0.61843	.	.	0.627396708286	0.62436	0.40443235341498107	0.40359	.	.	0.61015021801	0.54337	T	0.028454	0.20609	T	-0.328659	0.06214	T	-0.240026	0.50796	T	0.039666963874011	0.03630	T	.	.	.	0.09794656	0.23094	0.11483706	0.27721	0.09794656	0.23094	0.11483706	0.27720	-4.568	0.31767	T	.	.	0.145	0.31857	B	.;.	.;.	3.214525	0.43774	21.8	0.99579087464316673	0.72861	0.98153	0.80057	D	AEFBI	0.926340	0.90729	D	0.243054584716182	0.53296	3.499136	0.35420808389342	0.58763	4.048764	0.996300357473739	0.34656	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.95	4.81	0.61401	7.393000	0.79126	7.076000	0.57456	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8688:0.1312:0.0:0.0	13.403	0.60340	906	0.23090	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.001511	0.005051	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.08333	1433.83	132	chr11	92800389	.	A	G	1433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.606;DP=676;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=2.3;SOR=0.644	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1444,0,1717	5	0	1	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	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	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.1667	2218.04	35	chr11	94104605	.	C	A	2218.04	.	AC=2;AF=0.167;AN=12;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.69;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2238,210,0	5	1	0	0
chr11	102331119	102331119	G	A	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.G1202A:p.R401K,BIRC3:NM_182962:exon7:c.G1202A:p.R401K	.	438	1053	29	2	0	33	0.0154278	.	.	.	701528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00581824617469	0.0060	0.00379393	0.0059	0.0016	0.0025	0	0.0003	0.0090	0.0011	0.0038	0.0060154	930	154602	rs17881197	0.0082	0.0083	0.0084	0.0081	0.0149	0.0081	0.0081	0.0124	0.0114	0.0018	0.0031	0.0172	2.525e-05	0.0011	0.0149	0.0094	0.0076	0.0042	0.0054	0.0054	0.0059	0.0049	0.0082	0.0051	0.0050	0.0076	0.0074	0.0017	0	0.0082	0.0138	0	0.0005	0.0034	0.0082	0.0033	0.0025	0.152	0.24468	T	0.972	0.02471	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.145662	0.961759	0.26094	N	1.04	0.26193	L	2.07	0.20387	T	-0.25	0.11008	N	0.094	0.12055	-1.0247	0.22181	T	0.020	0.08500	T	10	0.006362766	0.00144	T	0.005818	0.15131	T	0.071	0.20720	.	.	0.435704348906	0.43193	0.40042119535168097	0.39957	0.29034342778	0.31437	0.306683242321	0.11406	T	0.07694	0.35537	T	-0.584895	0.00180	T	-0.601906	0.12652	T	0.01499739911791	0.00322	T	0.775222	0.40690	T	0.20565298	0.42714	0.16079606	0.37434	0.20565298	0.42713	0.16079606	0.37433	-3.354	0.14444	T	.	.	0.086	0.10449	B	.;.;.	.;.;.	3.123896	0.42190	21.5	0.96012916723923669	0.28451	0.90447	0.51630	D	AEFBCI	0.766927	0.70296	D	-0.401411524183567	0.25421	1.379769	-0.209592202056092	0.31189	1.762884	0.999934364952795	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.19	4.28	0.50183	6.630000	0.74133	7.575000	0.60810	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0741:0.0:0.9259:0.0	13.686	0.61996	789	0.46346	.;.;.	.	.	.	.	.	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	0.013092	0.010101	0.012228	0.023392	0.000000	0.017241	0.003049	0.003788	0.08333	460.83	33	chr11	102331119	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=236;ExcessHet=0;FS=3.809;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.859;SOR=1.066	GT:AD:DP:GQ:PL	0/1:38,20:58:99:471,0,958	5	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	446.8	129	chr11	106010659	.	C	T	446.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.161;DP=813;ExcessHet=1.383;FS=238.988;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.99;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,14:111:99:.:.:153,0,2789:.	2	0	3	1
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	756.44	129	chr11	106010660	.	C	G	756.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-3.078;DP=816;ExcessHet=3.1439;FS=243.716;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.98;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,25:111:99:.:.:250,0,2781:.	1	0	4	1
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	970.83	33	chr11	108304736	.	A	T	970.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=278;ExcessHet=0;FS=1.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.05;SOR=0.913	GT:AD:DP:GQ:PL	0/1:52,42:94:99:981,0,1262	5	0	1	0
chr11	117219154	117219154	C	T	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon11:c.G1334A:p.R445H	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00678914	0.0040	0	0	0.0001	0	1.792e-05	0.0041	0.0288	0.0030207	467	154602	rs139555790	0.0017	0.0017	0.0008	0.0025	0.0266	0.0016	0.0016	0.0257	0.0253	2.991e-05	2.243e-05	0	0.0001	0	0.0014	9.908e-06	0.0016	0.0266	0.0010	0.0010	0.0006	0.0014	0.0290	0.0008	0.0008	0.0251	0.0236	9.62e-05	0	0	0	0	0	0	2.94e-05	0	0.0290	0.262	0.16466	T	0.141	0.34837	T	0.003	0.11197	B	0.004	0.10090	B	0.000505	0.43753	N	0.233534	0.999971	0.19599	N	-0.03	0.05048	N	-1.44	0.80815	T	-0.32	0.12283	N	0.172	0.19995	-0.8579	0.51413	T	0.244	0.61237	T	10	0.00224936	0.00033	T	.	.	.	0.108	0.30607	.	.	0.481393932785	0.47771	0.5249313837551314	0.52417	0.648183044756	0.58173	0.221892893314	0.01422	T	0.019134	0.15298	T	-0.409593	0.02000	T	-0.341531	0.40171	T	0.0340348025916292	0.02643	T	0.812719	0.46458	T	0.060162373	0.12311	0.0399855	0.04217	0.060162373	0.12311	0.0399855	0.04217	-3.23	0.12851	T	.	.	0.066	0.02065	B	.;.	.;.	2.139018	0.27237	17.39	0.9862796910792786	0.43866	0.13493	0.17887	N	AEFBI	0.067795	0.13343	N	-0.916955437733202	0.10445	0.499179	-0.837406223478595	0.13590	0.7058474	0.999583278636023	0.40607	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.2	0.028	0.13474	0.181000	0.16691	-0.353000	0.09730	-0.266000	0.06809	0.680000	0.28438	0.095000	0.22593	0.965000	0.52897	0.0:0.611:0.0:0.389	9.467	0.37982	610	0.67008	Peptidase S8/S53 domain;Peptidase S8/S53 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	1	0	0	0	0.002520	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.011364	0.08333	879.83	35	chr11	117219154	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.112;SOR=0.714	GT:AD:DP:GQ:PL	0/1:30,35:65:99:890,0,680	5	0	1	0
chr11	118144015	118144015	G	A	exonic	SCN4B	.	nonsynonymous SNV	SCN4B:NM_174934:exon3:c.C281T:p.T94M	Atrial fibrillation, familial, 17, Autosomal dominant;Long QT syndrome-10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	188496	Cardiovascular_phenotype|Long_QT_syndrome_10|not_provided	MedGen:CN230736|MONDO:MONDO:0012737,MedGen:C2678484,OMIM:611819,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0120303929527	.	.	3.295e-05	0	8.637e-05	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs768926261	1.71e-05	1.71e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	2.194e-05	1.43e-05	0	2.236e-05	0	5.038e-05	0	0.0002	1.439e-05	0	5.797e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.109	0.29288	T	0.119	0.36101	T	0.927	0.51527	P	0.224	0.37970	B	0.287990	0.03875	N	1.441340	1	0.18198	N	1.15	0.29295	L	-0.26	0.67187	T	-0.08	0.08187	N	0.136	0.13341	-0.9564	0.39843	T	0.105	0.38440	T	10	0.06816167	0.09600	T	0.01203	0.30231	T	0.135	0.36572	0.231	0.15855	0.0482279557977	0.04254	0.5602926047369109	0.55956	0.151135903681	0.17061	0.31937789917	0.13326	T	0.234608	0.60168	T	-0.329517	0.06148	T	-0.614251	0.11642	T	0.13422030210495	0.15766	T	0.762324	0.38756	T	0.029986007	0.02585	0.052921046	0.08814	0.033647276	0.03624	0.069404095	0.14618	-5.962	0.45960	T	0.09866249393941408	0.07081	0.081	0.08368	B	.	.	1.350817	0.17583	13.25	0.96480440276540547	0.29970	0.01434	0.04823	N	AEFDGBI	0.036265	0.04805	N	-1.06287006640251	0.07337	0.3405167	-1.16952333804715	0.06425	0.3091991	0.999513804135462	0.40117	0.625279	0.40028	0	0.59043	0.45803	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	4.82	-3.75	0.04087	-0.307000	0.08206	-0.411000	0.09346	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.683000	0.33629	0.3466:0.2539:0.1245:0.275	0.485	0.00516	438	0.80235	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1083.83	34	chr11	118144015	.	G	A	1083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.11;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.609;SOR=0.733	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1094,0,1686	5	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	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	0	0	0.040785	0.050505	0.044837	0.058480	0.000000	0.043103	0.036585	0.022727	0.08333	1682.83	33	chr11	123943013	.	C	T	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=313;ExcessHet=0;FS=4.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.184;SOR=0.938	GT:AD:DP:GQ:PL	0/1:76,62:138:99:1693,0,1963	5	0	1	0
chr11	125777489	125777489	A	G	exonic	PATE2	.	nonsynonymous SNV	PATE2:NM_212555:exon4:c.T235C:p.S79P	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.648	0.147586393632	.	.	9.901e-05	0	0	0	0	0.0002	0	6.058e-05	8.41e-05	13	154602	rs749172683	5.953e-05	5.951e-05	5.038e-05	6.877e-05	0.0007	4.884e-05	4.562e-05	0.0002	0.0001	0	0	0.0016	0	0	0.0007	1.349e-05	0.0002	0.0001	7.232e-05	7.225e-05	5.141e-05	9.422e-05	0.0002	3.973e-05	3.129e-05	4.88e-06	1.83e-06	0	0	0	0.0023	0	0	0	2.941e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002897	0.35770	N	0.128963	0.567848	0.31203	N	2.215	0.62545	M	-3.1	0.92667	D	-3.53	0.75695	D	0.538	0.70702	0.870	0.95280	D	0.845	0.94816	D	10	0.24269801	0.41471	T	0.147586	0.82960	D	0.648	0.86686	0.305	0.27485	0.765747982069	0.76361	0.6458868688036026	0.64523	0.339029982443	0.35864	0.52401804924	0.42192	T	0.247038	0.61661	T	0.285791	0.81807	D	0.375396	0.91268	D	0.217635106527815	0.21345	T	0.684832	0.29327	T	0.73039335	0.79746	0.6674818	0.80498	0.73039335	0.79747	0.6674818	0.80499	-7.58	0.58171	D	.	.	0.986	0.92504	P	.;.	.;.	4.351603	0.66846	25.0	0.99806965320043173	0.89085	0.67739	0.33542	D	ALL	0.413276	0.48301	N	0.643351494965573	0.75940	6.395468	0.593475389706485	0.74471	6.142581	0.999999998860204	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.616919	0.45865	0	.	.	5.07	5.07	0.68106	2.051000	0.40932	6.197000	0.54843	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	11.404	0.49126	560	0.71333	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1232.83	34	chr11	125777489	.	A	G	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.637;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.69;SOR=0.763	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1243,0,1691	5	0	1	0
chr11	128486110	128486110	G	A	exonic	ETS1	.	nonsynonymous SNV	ETS1:NM_001330451:exon4:c.C440T:p.P147L,ETS1:NM_005238:exon4:c.C440T:p.P147L,ETS1:NM_001143820:exon6:c.C572T:p.P191L	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00881096584523	7.7e-05	.	3.305e-05	0.0004	0	0	0	0	0	0	4.53e-05	7	154602	rs138956441	1.781e-05	1.847e-05	2.182e-05	1.377e-05	0.0005	1.239e-05	1.053e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0.0001	0	9.856e-05	9.845e-05	0.0001	8.064e-05	0.0004	6.006e-05	4.88e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.048	0.41637	D	0.275	0.25210	T	0.002	0.09854	B	0.002	0.06944	B	0.442179	0.12613	N	0.774566	1	0.81001	D	1.39	0.34934	L	2.75	0.44856	T	-1.36	0.35597	N	0.238	0.27435	-1.0881	0.05856	T	0.091	0.34737	T	10	0.09655687	0.17327	T	0.008811	0.23245	T	0.096	0.27654	.	.	0.536393136767	0.53290	0.6585819998863615	0.65795	0.409640644394	0.41775	0.430390119553	0.29261	T	0.497023	0.81907	T	-0.327003	0.06340	T	-0.428058	0.30156	T	0.253806544656764	0.23043	T	0.953905	0.82456	D	0.1015415	0.23985	0.10449677	0.25098	0.1015415	0.23985	0.10449677	0.25097	-5.451	0.41407	T	.	.	0.071	0.08081	B	.;.;.;.	.;.;.;.	4.110533	0.61357	24.3	0.99052457132097382	0.51275	0.98466	0.83072	D	AEFDBI	0.874873	0.79797	D	-0.132074800637487	0.36000	2.075132	-0.000434391451302515	0.39697	2.357647	0.999999980969128	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	3.88	0.43959	9.446000	0.96756	11.759000	0.95586	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1261:0.7427:0.1313	12.746	0.56658	957	0.09725	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	864.83	39	chr11	128486110	.	G	A	864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=259;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.98;SOR=0.816	GT:AD:DP:GQ:PL	0/1:41,35:76:99:875,0,950	5	0	1	0
chr12	2679471	2679471	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129838:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129839:exon41:c.G5137A:p.V1713I,CACNA1C:NM_001129846:exon41:c.G5086A:p.V1696I,CACNA1C:NM_001167625:exon41:c.G5086A:p.V1696I,CACNA1C:NM_000719:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129829:exon42:c.G5242A:p.V1748I,CACNA1C:NM_001129830:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129833:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129834:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129835:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129836:exon42:c.G5170A:p.V1724I,CACNA1C:NM_001129840:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129841:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129842:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129843:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129844:exon42:c.G5110A:p.V1704I,CACNA1C:NM_001167623:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001167624:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129831:exon43:c.G5203A:p.V1735I,CACNA1C:NM_001129832:exon43:c.G5179A:p.V1727I,CACNA1C:NM_001129827:exon44:c.G5263A:p.V1755I,CACNA1C:NM_199460:exon44:c.G5263A:p.V1755I	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	188609	not_specified|not_provided|Long_QT_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.502	0.173233641019	8.1e-05	0.000199681	0.0007	0	0.0005	0	0	0.0008	0	0.0016	0.0002652	41	154602	rs147896322	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0037	0.0032	6.063e-05	0.0002	8.041e-05	7.682e-05	1.923e-05	0.0051	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.25255	T	0.564	0.13140	T	0.999	0.90584	D	0.987	0.82059	D	0.000000	0.00162	N	135.237000	0.999999	0.58761	D	2.32	0.66415	M	-3.92	0.96308	D	-0.59	0.17624	N	0.664	0.70615	0.500	0.90549	D	0.935	0.97846	D	10	0.15100849	0.28552	T	0.173234	0.84999	D	0.502	0.78475	.	.	0.846321943348	0.84484	0.4400439593453724	0.43921	0.425654640639	0.42967	0.617051482201	0.55312	T	0.004665	0.11001	T	0.00869578	0.52846	T	0.0806911	0.75624	D	0.0925779055125915	0.11520	T	.	.	.	.	.	.	.	.	.	.	.	-4.754	0.35825	T	.	.	0.126	0.35829	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.963306	0.82083	27.7	0.99848922393875916	0.92838	0.98787	0.86849	D	AEFDBI	0.926719	0.90827	D	0.505362786194092	0.67405	5.077439	0.512934559137171	0.68858	5.278617	0.999999999947849	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.301000	0.95253	11.722000	0.94835	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.178	0.86727	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.003788	0.08333	506.83	34	chr12	2679471	.	G	A	506.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.86;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.697;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:517,0,442	5	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	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	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1667	63.06	90	chr12	10930916	.	C	T	63.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=344;ExcessHet=0.4139;FS=1.166;MLEAC=2;MLEAF=0.167;MQ=40.91;MQRankSum=-0.305;QD=0.42;ReadPosRankSum=0.743;SOR=0.858	GT:AD:DP:GQ:PL	0/1:51,8:59:47:47,0,1500	4	0	2	0
chr12	11267441	11267441	G	0	exonic	PRB3	.	.	.	.	1030	18	92	373	9	847	0.95881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12772.5	159	chr12	11267441	.	G	*	12772.5	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.76;DP=573;ExcessHet=0;FS=6.265;MLEAC=1;MLEAF=0.125;MQ=56.86;MQRankSum=-0.537;QD=31.31;ReadPosRankSum=0.41;SOR=0.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,30:60:99:1|0:11267401_GGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA_G:2145,1024,1162:11267401	3	0	1	2
chr12	11267457	11267583	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	0	exonic	PRB3	.	.	.	.	450	833	197	30	12	269	0.133645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8387.68	172	chr12	11267457	.	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	*	8387.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.597;DP=484;ExcessHet=0.1336;FS=7.52;MLEAC=1;MLEAF=0.083;MQ=53.73;MQRankSum=2.74;QD=24.24;ReadPosRankSum=-0.763;SOR=0.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,47:75:99:1|0:11267401_GGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA_G:2048,897,980:11267401	5	0	1	0
chr12	14885769	14885769	G	A	exonic	MGP	.	nonsynonymous SNV	MGP:NM_000900:exon1:c.C23T:p.A8V,MGP:NM_001190839:exon1:c.C23T:p.A8V	Keutel syndrome, Autosomal recessive	1	1506	14	1	0	16	0.00528402	.	.	.	190292	not_specified|Keutel_syndrome|MGP-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.0153754	0.0087	0.0013	0.0003	0.0258	0.0118	0.0013	0.0134	0.0393	0.0076454	1182	154602	rs142330429	0.0040	0.0040	0.0029	0.0051	0.0394	0.0039	0.0039	0.0383	0.0379	0.0007	0.0003	3.829e-05	0.0280	0.0099	0.0014	0.0004	0.0056	0.0394	0.0033	0.0033	0.0023	0.0043	0.0420	0.0031	0.0030	0.0373	0.0355	0.0008	0	0.0003	0	0.0218	0.0100	0	0.0005	0.0038	0.0420	1.0	0.46513	T	1.0	0.06469	T	0.018	0.17786	B	0.016	0.17743	B	0.168558	0.17444	N	0.572076	1	0.08975	N	0.55	0.14455	N	1.63	0.36330	T	0.71	0.04861	N	0.124	0.17416	-1.0610	0.11508	T	0.021	0.08917	T	10	0.0028949082	0.00046	T	.	.	.	0.051	0.14325	.	.	0.256793551483	0.25290	0.3697347310419195	0.36887	0.218503164228	0.24388	0.272802770138	0.06508	T	0.041667	0.25932	T	-0.533278	0.00367	T	-0.510225	0.21292	T	0.0170042470556583	0.00449	T	0.711829	0.32321	T	0.04403011	0.06967	0.060595833	0.11566	0.05456559	0.10486	0.053801343	0.09132	-3.864	0.21764	T	.	.	0.123	0.27039	B	.;.	.;.	1.351151	0.17589	13.25	0.71949568773004902	0.09804	0.43434	0.27097	N	AEFGBHCIJ	0.537293	0.55515	D	-0.41703934664876	0.24871	1.346068	-0.304299233110757	0.27959	1.555264	0.99999999858413	0.74766	0.730579	0.87903	0	0.563428	0.19063	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.22	5.22	0.72285	1.780000	0.38264	3.354000	0.37808	0.676000	0.76740	0.012000	0.18695	0.498000	0.25189	0.056000	0.15673	0.0:0.0:1.0:0.0	14.152	0.64924	692	0.58729	.;.	.	.	.	.	rs142330429	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	0.006303	0.005747	0.001374	0.005952	0.000000	0.000000	0.006623	0.019231	0.08333	534.83	34	chr12	14885769	.	G	A	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.541;DP=218;ExcessHet=0;FS=1.092;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.211;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,22:49:99:545,0,741	5	0	1	0
chr12	14917253	14917253	T	C	exonic	ERP27	.	nonsynonymous SNV	ERP27:NM_001300784:exon3:c.A198G:p.I66M,ERP27:NM_152321:exon5:c.A501G:p.I167M	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.0167732	0.0104	0.0012	0.0002	0.0353	0.0547	0.0032	0.0198	0.0213	0.0090749	1403	154602	rs79989395	0.0052	0.0052	0.0047	0.0058	0.0404	0.0051	0.0051	0.0388	0.0381	0.0005	0.0001	0.0003	0.0404	0.0518	0.0009	0.0007	0.0072	0.0232	0.0072	0.0073	0.0047	0.0099	0.0352	0.0069	0.0067	0.0310	0.0294	0.0006	0	0.0006	0	0.0352	0.0553	0	0.0022	0.0052	0.0284	0.4	0.10588	T	0.354	0.17804	T	0.036	0.20732	B	0.015	0.17295	B	0.134197	0.18525	N	0.598338	1	0.08975	N	-0.21	0.04010	N	1.4	0.33630	T	-0.39	0.13611	N	0.25	0.28849	-1.0899	0.05549	T	0.007	0.02558	T	10	0.0027365685	0.00043	T	.	.	.	0.034	0.08419	.	.	.	.	0.6379539404617037	0.63729	0.045523645184	0.04937	0.315013676882	0.12665	T	0.020484	0.16118	T	-0.61282	0.00122	T	-0.627982	0.10568	T	3.6474120861385e-05	0.00000	T	0.585041	0.22576	T	0.21867391	0.44381	0.059703737	0.11248	0.21867391	0.44380	0.059703737	0.11248	-7.614	0.58408	D	.	.	0.054	0.00361	B	.;.	.;.	0.377832	0.07500	4.142	0.83653740641089447	0.14845	0.00801	0.03263	N	AEFGBI	0.039172	0.05650	N	-1.29603762527472	0.03723	0.1668104	-1.28633740044139	0.04614	0.2180703	0.999887314145941	0.44867	0.615465	0.37627	0	0.653731	0.59785	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.36	-6.13	0.01937	-0.848000	0.04435	-3.928000	0.02447	-0.349000	0.05595	0.214000	0.24469	0.000000	0.08366	0.992000	0.67800	0.2276:0.2012:0.1121:0.4592	1.616	0.02540	653	0.62661	.;.	.	.	.	.	rs79989395	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	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.08333	465.83	34	chr12	14917253	.	T	C	465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=232;ExcessHet=0;FS=6.133;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.4;SOR=1.158	GT:AD:DP:GQ:PL	0/1:31,19:50:99:476,0,788	5	0	1	0
chr12	18081418	18081418	G	A	exonic	RERGL	.	stopgain	RERGL:NM_001286201:exon5:c.C388T:p.R130X,RERGL:NM_024730:exon6:c.C391T:p.R131X	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0011	0.0005	0	0.0001	0	0.0016	0.0022	0.0008	0.0011643	180	154602	rs73063263	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0004	6.708e-05	0	2.519e-05	0.0003	0.0003	0.0019	0.0008	0.0010	0.0009	0.0009	0.0010	0.0007	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0	0	0	0	0.0002	0	0.0016	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228168	0.76548	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.521790	0.95345	34	0.98929694493280473	0.48713	0.67251	0.33365	D	AEFI	0.295076	0.40528	N	-0.00302644330928675	0.41719	2.500429	-0.280442050904326	0.28742	1.604954	2.68543704864855E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	-2.84	0.05408	0.234000	0.17708	0.805000	0.21696	-0.251000	0.07141	0.847000	0.30396	0.426000	0.24831	0.909000	0.44452	0.0729:0.0:0.3074:0.6197	10.209	0.42303	952	0.10565	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1281.83	33	chr12	18081418	.	G	A	1281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.285;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=2.48;SOR=0.692	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1292,0,1310	5	0	1	0
chr12	18503325	18503325	C	T	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_004570:exon22:c.C2938T:p.H980Y,PIK3C2G:NM_001288772:exon23:c.C3061T:p.H1021Y,PIK3C2G:NM_001288774:exon23:c.C2395T:p.H799Y	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.0612139718654	0.0008	0.000798722	0.0007	0	0.0003	0	0.0005	0.0008	0.0011	0.0012	0.0007244	112	154602	rs201569993	0.0010	0.0010	0.0009	0.0010	0.0015	0.0009	0.0009	0.0013	0.0012	0.0002	0.0002	0	0	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0008	0.0006	0.0009	0.0023	0.0006	0.0006	0.0013	0.0010	0.0001	0	0.0009	0.0003	0	0.0010	0	0.0011	0.0005	0.0023	0.007	0.59928	D	0.096	0.39340	T	1.0	0.90584	D	0.982	0.78396	D	0.000127	0.49741	D	0.136888	0.999846	0.49770	D	1.245	0.31408	L	-1.22	0.78752	T	-2.45	0.53577	N	0.614	0.63035	0.177	0.85515	D	0.557	0.83817	D	10	0.10832471	0.20160	T	0.061214	0.68258	D	0.628	0.85666	.	.	0.811717376858	0.80994	0.5975211642208804	0.59683	0.0886662407375	0.10026	0.498883903027	0.38672	T	0.148773	0.48748	T	-0.268837	0.11886	T	-0.157989	0.58532	T	0.146644130349159	0.16833	T	0.905209	0.66592	D	0.346549	0.56797	0.5089819	0.71624	0.346549	0.56797	0.5089819	0.71624	-9.52	0.70983	D	.	.	0.665	0.72782	P	.;.;.	.;.;.	4.617384	0.73285	26.0	0.99723670742592063	0.82266	0.97602	0.75831	D	AEFBI	0.879948	0.80624	D	0.562196806349839	0.70828	5.559192	0.467213244557907	0.65831	4.873593	0.992675562203726	0.32927	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.88	3.88	0.43959	7.478000	0.80087	7.069000	0.57433	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:1.0:0.0:0.0	14.165	0.65009	826	0.39940	Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain	.	.	.	.	.	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	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	729.83	36	chr12	18503325	.	C	T	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.95;DP=227;ExcessHet=0;FS=1.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.05;SOR=0.922	GT:AD:DP:GQ:PL	0/1:15,29:44:99:740,0,390	5	0	1	0
chr12	31980974	31980974	C	A	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.C19A:p.P7T	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0002	0.00259585	0.0026	0	0.0008	0.0001	0	0.0003	0.0012	0.0212	0.0021022	325	154602	rs150927474	0.0012	0.0012	0.0006	0.0017	0.0167	0.0011	0.0011	0.0160	0.0157	6.068e-05	0.0002	3.917e-05	0	3.764e-05	0.0065	0.0002	0.0013	0.0167	0.0007	0.0007	0.0004	0.0009	0.0139	0.0006	0.0005	0.0112	0.0103	0	0.0011	0.0003	0	0	0	0.0034	0.0004	0	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.785	0.57495	P	0.059557	0.22315	N	0.381540	1	0.08975	N	1.79	0.46772	L	2.86	0.22270	T	-8.0	0.96495	D	0.274	0.31027	-1.0895	0.05616	T	0.067	0.27572	T	10	0.0033395588	0.00058	T	.	.	.	0.078	0.22779	.	.	0.215109475489	0.21095	0.38457686279474934	0.38372	0.0490504788645	0.05365	0.345513343811	0.17260	T	0.08574	0.37569	T	-0.480207	0.00737	T	-0.449587	0.27742	T	0.153821343422295	0.17404	T	0.734027	0.37241	T	0.30231315	0.53112	0.22810557	0.47841	0.30231315	0.53112	0.22810557	0.47840	-3.89	0.22152	T	.	.	0.097	0.36811	B	.;.;.	.;.;.	3.370509	0.46573	22.3	0.99347992340563462	0.60452	0.85999	0.45201	D	AEFBI	0.063058	0.12162	N	-0.00214455778623099	0.41759	2.503551	-0.101655823674498	0.35323	2.042288	0.997642465401557	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.3	0.50540	1.825000	0.38720	2.598000	0.33506	0.599000	0.40250	0.957000	0.33433	0.975000	0.29991	0.851000	0.40252	0.0:0.9179:0.0:0.0821	11.982	0.52413	958	0.09170	.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.015152	0.08333	1125.83	33	chr12	31980974	.	C	A	1125.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.441;DP=279;ExcessHet=0;FS=7.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-1.272;SOR=0.267	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1136,0,1431	5	0	1	0
chr12	40479617	40479617	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	565	948	9	0	0	9	0.00472441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0638185984586	.	0.000798722	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs193276049	9.362e-05	6.156e-05	9.367e-05	9.357e-05	0.0018	7.619e-05	7.046e-05	0.0013	0.0011	0	0	0	0	0	0.0006	5.381e-05	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	7.225e-05	0	0	0	0	0	0.0034	0.0001	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	5602.83	353	chr12	40479617	.	C	A	5602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.04;DP=1884;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.91;SOR=0.689	GT:AD:DP:GQ:PL	0/1:192,200:392:99:5613,0,5596	5	0	1	0
chr12	40480581	40480581	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	556	962	4	0	0	4	0.00207469	.	.	.	2806875	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0	.	.	.	.	.	.	.	0.0067619	176	26028	rs149170137	0.0088	0.0051	0.0090	0.0087	0.0091	0.0087	0.0086	0.0089	0.0088	0.0011	0.0041	0.0256	0	0.0109	0.0043	0.0091	0.0082	0.0039	0.0057	0.0057	0.0064	0.0050	0.0086	0.0054	0.0053	0.0081	0.0078	0.0016	0.0022	0.0047	0.0288	0	0.0018	0.0034	0.0086	0.0066	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	4079.83	250	chr12	40480581	.	T	C	4079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.56;DP=1622;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.457;SOR=0.684	GT:AD:DP:GQ:PL	0/1:157,148:305:99:4090,0,4096	5	0	1	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	8243.04	572	chr12	40483220	.	T	A	8243.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=3891;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.819;SOR=0.664	GT:AD:DP:GQ:PL	0/1:227,295:522:99:8253,0,6106	5	0	1	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:674,375:1049:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13789,0,27017:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:674,375:1049:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13789,0,27017:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:674,375:1049:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13789,0,27017:40486484	1	0	5	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1020,42:1062:99:.:.:1735,0,42396:.	1	0	5	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:966,32:998:99:.:.:1659,0,39582:.	1	0	5	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1055.7	313	chr12	40488250	.	A	T	1055.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.925;DP=3776;ExcessHet=0;FS=10.227;MLEAC=1;MLEAF=0.1;MQ=58.95;MQRankSum=-14.25;QD=1.75;ReadPosRankSum=-6.17;SOR=1.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,64:603:99:0|1:40488222_A_G:1065,0,22440:40488222	4	0	1	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	140.7	313	chr12	40488255	.	G	T	140.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.121;DP=3751;ExcessHet=0;FS=31.822;MLEAC=1;MLEAF=0.1;MQ=58.99;MQRankSum=-12.36;QD=0.24;ReadPosRankSum=-6.361;SOR=4.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:536,42:578:99:0|1:40488222_A_G:150,0,22380:40488222	4	0	1	1
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5873.7	621	chr12	40490978	.	G	A	5873.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.337;DP=3351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=59.64;MQRankSum=-2.999;QD=11.23;ReadPosRankSum=1.99;SOR=0.71	GT:AD:DP:GQ:PL	0/1:296,227:523:99:5883,0,8246	4	0	1	1
chr12	40535941	40535941	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00459265	0.0065	0.0052	0.0034	0	0.0025	0.0115	0.0136	0.0040	0.0019793	306	154602	rs117275013	0.0086	0.0082	0.0088	0.0084	0.0099	0.0085	0.0084	0.0097	0.0097	0.0018	0.0034	0.0070	8.395e-05	0.0027	0.0063	0.0099	0.0078	0.0045	0.0059	0.0059	0.0066	0.0053	0.0100	0.0056	0.0055	0.0093	0.0091	0.0021	0	0.0039	0.0061	0.0006	0.0017	0.0137	0.0100	0.0099	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1073.83	40	chr12	40535941	.	C	T	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=255;ExcessHet=0;FS=6.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.035;SOR=0.289	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1084,0,849	5	0	1	0
chr12	49556437	49556437	T	C	exonic	KCNH3	.	nonsynonymous SNV	KCNH3:NM_001314030:exon13:c.T2356C:p.S786P,KCNH3:NM_012284:exon13:c.T2536C:p.S846P	.	429	1078	14	1	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	.	0.0012	0.00259585	0.0031	0.0004	0.0012	0	0.0005	0.0022	0.0055	0.0124	0.0027296	422	154602	rs148051821	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0055	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.295	0.14743	T	0.276	0.21947	T	0.0	0.02946	B	0.0	0.01387	B	0.331584	0.14105	N	0.630201	0.942104	0.26760	N	0.345	0.11182	N	-5.15	0.98780	D	-1.17	0.29933	N	0.121	0.11197	0.265	0.86987	D	0.794	0.93025	D	10	0.0043319166	0.00088	T	.	.	.	0.345	0.66676	.	.	0.335408717102	0.33150	0.2503842600601469	0.24952	0.197926337022	0.22167	0.426624059677	0.28747	T	0.124711	0.44993	T	-0.373289	0.03431	T	-0.298592	0.44874	T	0.00673740653116864	0.00076	T	0.537746	0.18100	T	0.17111765	0.37726	0.15133056	0.35652	0.17111765	0.37725	0.15133056	0.35651	-2.388	0.05060	T	.	.	0.061	0.01179	B	.	.	1.978526	0.25134	16.65	0.97804569176901268	0.36084	0.12966	0.17585	N	AEFDBCI	0.095084	0.19217	N	-0.842254027099442	0.12240	0.5954797	-0.733479497031439	0.16130	0.8517694	0.999238427337869	0.38840	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	6.04	-0.853	0.10167	-0.063000	0.11612	0.448000	0.18493	0.665000	0.62972	0.001000	0.13787	0.912000	0.28152	0.995000	0.73285	0.0:0.464:0.0:0.536	9.876	0.40371	181	0.92953	.	.	.	.	.	.	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	0.010081	0.015306	0.004076	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	592.83	35	chr12	49556437	.	T	C	592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.358;DP=237;ExcessHet=0;FS=5.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.521;SOR=1.358	GT:AD:DP:GQ:PL	0/1:36,25:61:99:603,0,998	5	0	1	0
chr12	49587731	49587731	C	G	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon7:c.G2556C:p.E852D	.	438	1069	14	1	0	16	0.00742804	.	.	.	1537360	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00259585	0.0032	0.0004	0.0012	0	0.0005	0.0022	0.0056	0.0128	0.0027749	429	154602	rs144854212	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0011	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.053	0.41096	T	0.0	0.92824	D	0.997	0.70673	D	0.921	0.65636	D	0.021531	0.26815	N	0.181745	0.999966	0.28338	N	2.115	0.58683	M	1.81	0.25182	T	-2.32	0.51478	N	0.388	0.42931	-0.8289	0.53371	T	0.176	0.51974	T	10	0.0042442977	0.00085	T	.	.	.	0.087	0.25287	0.693	0.83032	0.0297737177859	0.01360	0.37489820795600587	0.37403	0.563040792911	0.52758	0.323195874691	0.13905	T	0.054959	0.29870	T	-0.533521	0.00366	T	-0.529748	0.19311	T	0.0279865270322701	0.01686	T	0.574842	0.20648	T	0.08981976	0.20998	0.10498092	0.25225	0.10011285	0.23634	0.09886605	0.23584	-4.524	0.31201	T	.	.	0.281	0.51411	B	.;.	.;.	2.304664	0.29492	18.14	0.99765063224884831	0.85417	0.15078	0.18733	N	AEFDBHCI	0.068262	0.13457	N	-0.376212069457169	0.26320	1.435497	-0.507274566916856	0.21954	1.190188	0.889547586395909	0.25815	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.4	-0.887	0.10051	-0.272000	0.08591	-0.981000	0.06712	0.599000	0.40250	0.160000	0.23797	0.000000	0.08366	0.893000	0.43066	0.0:0.3613:0.0:0.6387	8.380	0.31625	197	0.92378	.;.	.	.	.	.	.	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	0.009063	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	622.83	33	chr12	49587731	.	C	G	622.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.046;DP=253;ExcessHet=0;FS=1.992;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.174;SOR=1.044	GT:AD:DP:GQ:PL	0/1:40,31:71:99:633,0,1048	5	0	1	0
chr12	49600271	49600271	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon4:c.T1369G:p.F457V	.	419	1088	14	1	0	16	0.00729927	.	.	.	1604670	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0012	0.00259585	0.0031	0.0004	0.0013	0	0.0005	0.0022	0.0055	0.0124	0.0027684	428	154602	rs148848955	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.528	0.07163	T	0.615	0.08189	T	0.002	0.09854	B	0.004	0.10090	B	0.131584	0.02813	N	1.964920	1	0.08975	N	1.245	0.31408	L	2.85	0.10578	T	0.2	0.07590	N	0.063	0.03502	-0.9985	0.30339	T	0.015	0.05897	T	9	0.0038258433	0.00072	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.02506022555357011	0.02457	0.170960860832	0.19261	0.25391843915	0.04192	T	0.006459	0.05891	T	-0.713695	0.00030	T	-0.787562	0.02232	T	0.00239852839324041	0.00025	T	0.414759	0.10842	T	0.030541174	0.02737	0.030046115	0.01411	0.039639454	0.05511	0.040686384	0.04452	-2.123	0.03684	T	.	.	0.104	0.18746	B	.;.	.;.	-0.576906	0.01636	0.114	0.60102682728397716	0.06382	0.09813	0.15483	N	AEFDGBHCI	.	.	.	-1.31707158443633	0.03480	0.1555046	-1.42515154234731	0.03002	0.1392343	0.535150626161564	0.21207	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.37	-7.64	0.01146	-0.463000	0.06773	-0.879000	0.07072	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3358:0.1945:0.3604:0.1093	2.685	0.04790	233	0.90919	.;.	.	.	.	.	.	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	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.018939	0.08333	1015.83	33	chr12	49600271	.	A	C	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.751;DP=256;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.242;SOR=0.935	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1026,0,1046	5	0	1	0
chr12	49604314	49604314	C	G	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon2:c.G321C:p.W107C	.	429	1078	14	1	0	16	0.00736648	0.9937	0.852	.	1618721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.497	.	0.0011	0.00259585	0.0031	0.0004	0.0012	0	0.0005	0.0022	0.0055	0.0127	0.0027037	418	154602	rs141974060	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0004	0	0.0006	0.0056	0.0017	0.0023	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001172	0.39978	N	0.000000	0.999999	0.58761	D	2.695	0.78878	M	-1.08	0.77078	T	-13.0	0.99878	D	0.771	0.76853	0.159	0.85208	D	0.604	0.85915	D	9	0.013077259	0.00279	T	.	.	.	0.497	0.78163	0.712	0.84781	0.745851321466	0.74356	0.3999457641578697	0.39909	0.749224044332	0.63684	0.499333530664	0.38735	T	0.163862	0.50909	T	0.0296349	0.55674	T	0.28018	0.87133	D	0.0662726229737814	0.08118	T	0.859314	0.55085	D	0.7051304	0.78338	0.798298	0.88163	0.74540913	0.80604	0.66761976	0.80507	-2.59	0.06428	T	.	.	0.909	0.84083	P	.;.	.;.	5.137794	0.86009	28.8	0.98973024641190199	0.49580	0.96060	0.67351	D	AEFDGI	0.497005	0.53170	N	0.696368580114305	0.79394	7.068448	0.674667878706576	0.80459	7.303645	0.99450599743449	0.33667	0.554377	0.28877	0	0.588066	0.40923	0	0.408882	0.06424	0	0.645665	0.59343	0	.	.	5.56	5.56	0.83678	2.575000	0.45689	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	15.415	0.74680	240	0.90628	.;.	.	.	.	.	.	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	0.009586	0.010101	0.004076	0.005882	0.000000	0.008621	0.015244	0.018939	0.08333	524.83	35	chr12	49604314	.	C	G	524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.917;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.166;SOR=0.68	GT:AD:DP:GQ:PL	0/1:27,21:48:99:535,0,785	5	0	1	0
chr12	49707142	49707142	C	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_001367835:exon1:c.G39T:p.E13D,FMNL3:NM_175736:exon1:c.G39T:p.E13D,FMNL3:NM_198900:exon1:c.G39T:p.E13D	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0010	0.00299521	0.0043	0.0004	0.0021	0	0.0012	0.0029	0.0089	0.0174	0.0024126	373	154602	rs200294583	0.0021	0.0021	0.0018	0.0024	0.0120	0.0021	0.0020	0.0113	0.0111	0.0006	0.0007	0.0004	0	0.0006	0.0054	0.0016	0.0024	0.0120	0.0013	0.0013	0.0012	0.0014	0.0110	0.0011	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0014	0.0110	0.512	0.07449	T	0.553	0.09725	T	0.0	0.02946	B	0.001	0.04355	B	0.056225	0.22577	N	0.445694	0.999974	0.18612	N	0.695	0.17993	N	-1.27	0.80387	T	-0.74	0.20791	N	0.129	0.25499	-0.9819	0.34561	T	0.181	0.52752	T	10	0.0050670207	0.00109	T	.	.	.	0.128	0.35103	0.106	0.01810	0.56265594507	0.55928	0.16400723662352634	0.16320	0.356036802147	0.37358	0.803074836731	0.82433	D	0.010304	0.09320	T	-0.475635	0.00785	T	-0.446598	0.28074	T	0.00898858313818023	0.00112	T	0.622938	0.24812	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.072	0.04436	B	.;.;.	.;.;.	1.685121	0.21476	15.21	0.91890903621303188	0.21209	0.72995	0.35713	D	AEFDBHCIJ	0.159408	0.28521	N	-0.86912710523105	0.11582	0.5597224	-0.705541733789153	0.16822	0.8917362	0.99999876687679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.61	0.207	0.14491	0.593000	0.23700	0.117000	0.14863	-0.351000	0.05566	0.938000	0.32564	0.944000	0.28851	0.892000	0.42986	0.0:0.4614:0.286:0.2526	5.020	0.13698	379	0.83778	.;.;.	.	.	.	.	.	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	0	0	0.010606	0.015152	0.004076	0.011765	0.000000	0.017241	0.015337	0.011364	0.08333	167.83	34	chr12	49707142	.	C	A	167.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.091;DP=183;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.719;SOR=0.754	GT:AD:DP:GQ:PL	0/1:12,7:19:99:178,0,348	5	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	428.48	78	chr12	54363394	.	G	A	428.48	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.22;DP=463;ExcessHet=1.383;FS=284.876;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.03;SOR=8.739	GT:AD:DP:GQ:PL	0/1:51,23:74:99:126,0,1084	3	0	3	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	458.83	37	chr12	57526581	.	C	G	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.16;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.558;SOR=0.862	GT:AD:DP:GQ:PL	0/1:17,21:38:99:469,0,385	5	0	1	0
chr12	57601013	57601013	A	T	exonic	PIP4K2C	.	nonsynonymous SNV	PIP4K2C:NM_001146260:exon7:c.A872T:p.H291L,PIP4K2C:NM_001146258:exon8:c.A1016T:p.H339L,PIP4K2C:NM_001146259:exon8:c.A962T:p.H321L,PIP4K2C:NM_024779:exon8:c.A1016T:p.H339L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0085633161104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276050714	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.04832	T	0.664	0.06511	T	0.0	0.02946	B	0.006	0.12133	B	0.008882	0.30616	N	0.370948	0.639289	0.32861	D	0.18	0.09070	N	1.73	0.26445	T	-1.32	0.32991	N	0.182	0.19728	-1.0472	0.15188	T	0.040	0.17191	T	10	0.07540253	0.11648	T	0.008563	0.22631	T	0.127	0.34888	0.503	0.59615	0.235664433957	0.23186	0.6525420379417889	0.65190	0.505556540671	0.48791	0.603750824928	0.53433	T	0.034329	0.23278	T	-0.146724	0.28825	T	-0.448536	0.27859	T	0.468894094228745	0.31490	T	0.791221	0.43226	T	0.13858318	0.32045	0.06265997	0.12295	0.13858318	0.32044	0.06265997	0.12294	-2.874	0.08886	T	.	.	0.120	0.30264	B	.;.;.;.	.;.;.;.	2.328049	0.29821	18.24	0.92673601016730567	0.22157	0.15608	0.18995	N	AEFBI	0.174005	0.30111	N	-0.561688581431752	0.20118	1.058247	-0.422117857681877	0.24350	1.332882	0.992178330901489	0.32745	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.38	4.38	0.52019	1.149000	0.31238	11.240000	0.90396	0.691000	0.84096	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.992	0.58031	309	0.87553	.;Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.;Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	754.83	33	chr12	57601013	.	A	T	754.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=247;ExcessHet=0;FS=3.308;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.997;SOR=0.365	GT:AD:DP:GQ:PL	0/1:47,28:75:99:765,0,1273	5	0	1	0
chr12	75293261	75293261	A	G	exonic	CAPS2	.	nonsynonymous SNV	CAPS2:NM_001355026:exon8:c.T797C:p.L266S,CAPS2:NM_001355030:exon9:c.T512C:p.L171S,CAPS2:NM_001355031:exon10:c.T512C:p.L171S,CAPS2:NM_001355033:exon10:c.T512C:p.L171S,CAPS2:NM_001286547:exon11:c.T962C:p.L321S,CAPS2:NM_001355032:exon11:c.T512C:p.L171S,CAPS2:NM_001355024:exon12:c.T1058C:p.L353S,CAPS2:NM_001355027:exon12:c.T950C:p.L317S,CAPS2:NM_001286548:exon13:c.T512C:p.L171S,CAPS2:NM_001355023:exon13:c.T1076C:p.L359S,CAPS2:NM_001355025:exon13:c.T950C:p.L317S,CAPS2:NM_032606:exon13:c.T1208C:p.L403S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00781534306865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.40068	T	0.105	0.38450	T	0.014	0.20002	B	0.008	0.18140	B	0.043572	0.23726	N	0.320832	1	0.81001	D	1.465	0.36909	L	1.96	0.22270	T	-0.74	0.21003	N	0.353	0.39457	-1.0916	0.05270	T	0.039	0.16806	T	10	0.15068394	0.28495	T	0.007815	0.20720	T	0.081	0.23632	0.638	0.77470	0.393006254552	0.38910	0.5002233799500293	0.49943	0.101150159241	0.11438	0.307729125023	0.11564	T	0.073626	0.34744	T	-0.141589	0.29637	T	-0.441159	0.28677	T	0.126364710380478	0.15042	T	0.518148	0.16784	T	0.06493272	0.13827	0.08368607	0.19197	0.06493272	0.13827	0.08368607	0.19197	-3.3	0.43845	T	.	.	0.193	0.41310	B	.;.;.	.;.;.	1.840350	0.23383	16.00	0.97587334834492867	0.34769	0.82599	0.41804	D	AEFI	0.425161	0.49004	N	-0.403868700368459	0.25334	1.374424	-0.309730289310234	0.27784	1.544159	8.6000240531324E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.6	3.45	0.38602	1.402000	0.34209	6.043000	0.53031	0.677000	0.82338	0.889000	0.31176	1.000000	0.68203	0.269000	0.23743	0.7709:0.1491:0.0799:0.0	6.982	0.23885	880	0.29376	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	867.83	34	chr12	75293261	.	A	G	867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.444;DP=247;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1;SOR=0.811	GT:AD:DP:GQ:PL	0/1:40,38:78:99:878,0,924	5	0	1	0
chr12	95263020	95263020	T	C	exonic	VEZT	.	nonsynonymous SNV	VEZT:NM_001352090:exon3:c.T283C:p.S95P,VEZT:NM_001352089:exon4:c.T373C:p.S125P,VEZT:NM_001352091:exon4:c.T280C:p.S94P,VEZT:NM_001352097:exon4:c.T139C:p.S47P,VEZT:NM_001352098:exon4:c.T373C:p.S125P,VEZT:NM_001352108:exon4:c.T373C:p.S125P,VEZT:NM_001352109:exon4:c.T373C:p.S125P,VEZT:NM_001352110:exon4:c.T373C:p.S125P,VEZT:NM_001352111:exon4:c.T373C:p.S125P,VEZT:NM_001352112:exon4:c.T280C:p.S94P,VEZT:NM_017599:exon4:c.T373C:p.S125P,VEZT:NM_001352088:exon5:c.T430C:p.S144P,VEZT:NM_001352092:exon5:c.T229C:p.S77P,VEZT:NM_001352093:exon5:c.T229C:p.S77P,VEZT:NM_001352096:exon5:c.T229C:p.S77P,VEZT:NM_001352100:exon5:c.T430C:p.S144P,VEZT:NM_001352113:exon5:c.T229C:p.S77P,VEZT:NM_001352094:exon6:c.T229C:p.S77P,VEZT:NM_001352095:exon6:c.T229C:p.S77P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00395812368713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.769	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.008756	0.30686	N	0.381310	0.999998	0.08975	N	-0.975	0.01213	N	2.49	0.48142	T	-0.25	0.11185	N	0.071	0.04426	-1.0234	0.22606	T	0.028	0.11971	T	10	0.012732089	0.00272	T	0.003958	0.09368	T	0.024	0.04979	0.217	0.13788	0.340032825777	0.33618	0.35849927452813346	0.35763	0.0721623688548	0.08090	0.30971968174	0.11865	T	0.024671	0.18594	T	-0.247288	0.14434	T	-0.592988	0.13408	T	0.118479184806347	0.14281	T	0.553645	0.20837	T	0.04675905	0.07881	0.069307156	0.14584	0.04675905	0.07881	0.069307156	0.14584	-3.62	0.18147	T	.	.	0.050	0.00505	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.874435	0.12472	9.006	0.65367840648272224	0.07752	0.03874	0.09239	N	ALL	0.080508	0.16278	N	-1.49391941609904	0.01893	0.08304394	-1.3532976257953	0.03767	0.1764018	0.999999958823441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.74	1.6	0.22686	0.015000	0.13250	0.060000	0.14119	-0.954000	0.02017	0.004000	0.16614	0.001000	0.17328	0.802000	0.37819	0.3693:0.3622:0.1204:0.1482	2.200	0.03682	850	0.35610	.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	409.83	35	chr12	95263020	.	T	C	409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.082;DP=208;ExcessHet=0;FS=1.271;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.839;SOR=0.465	GT:AD:DP:GQ:PL	0/1:20,17:37:99:420,0,592	5	0	1	0
chr12	101757267	101757267	G	A	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon18:c.C3379T:p.R1127C	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0664392343708	.	.	8.27e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs770952898	6.862e-06	8.893e-06	9.56e-06	4.137e-06	2.993e-05	3.47e-06	2.53e-06	1.32e-06	9.6e-07	2.993e-05	2.237e-05	0	0	5.625e-05	0	4.51e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.968	0.71741	D	0.000002	0.62929	D	0.103596	1	0.81001	D	2.175	0.60977	M	-1.65	0.82625	D	-4.5	0.78135	D	0.872	0.86941	-0.3898	0.72349	T	0.409	0.75782	T	10	0.82880616	0.82050	D	0.066439	0.69876	D	0.679	0.88205	0.445	0.50302	0.922133125138	0.92134	0.7861915661612964	0.78571	0.958108681369	0.72899	0.868327498436	0.92329	D	0.680694	0.90621	D	0.412038	0.90595	D	0.354087	0.90477	D	0.994026303291321	0.85086	D	0.979002	0.92669	D	0.35670832	0.57585	0.4478734	0.67852	0.35670832	0.57585	0.4478734	0.67852	-11.587	0.82781	D	0.7642746028802162	0.84584	0.934	0.85387	P	.	.	5.754276	0.93398	33	0.99935412730299933	0.99579	0.97243	0.73538	D	AEFBI	0.831447	0.74998	D	0.545224053357425	0.69791	5.407543	0.62996040945182	0.77125	6.619674	0.998451865919762	0.36996	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	6.293000	0.72717	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.628	0.99524	470	0.78111	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	274.84	7	chr12	101757267	.	G	A	274.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.745;DP=131;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.176;SOR=1.27	GT:AD:DP:GQ:PL	0/1:10,11:21:99:285,0,232	5	0	1	0
chr12	106240132	106240132	T	C	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.A701G:p.E234G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.0995561308731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.36	0.67893	M	-1.97	0.85173	D	-4.04	0.74427	D	0.824	0.81957	0.529	0.90953	D	0.743	0.91209	D	10	0.87471294	0.86755	D	0.099556	0.77128	D	0.846	0.95212	0.662	0.79996	0.738620126976	0.73628	.	.	0.984526789669	0.73857	0.667167425156	0.62435	T	0.35045	0.71816	T	0.381799	0.88824	D	0.310652	0.88683	D	0.995723724365234	0.87953	D	0.692631	0.30204	T	0.3809813	0.59387	0.45651385	0.68411	0.3809813	0.59387	0.45651385	0.68411	-10.114	0.74591	D	.	.	0.791	0.76892	P	.	.	4.604276	0.72959	25.9	0.99908474890935917	0.97875	0.98908	0.88470	D	AEFBI	0.931449	0.92028	D	0.776162166670644	0.84596	8.331782	0.759827247817542	0.86888	9.036412	0.999999991918944	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.384000	0.79020	6.128000	0.53877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	16.161	0.81518	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1999.83	41	chr12	106240132	.	T	C	1999.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=306;ExcessHet=0;FS=3.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.355;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,54:124:99:0|1:106240131_C_T:2010,0,2751:106240131	5	0	1	0
chr12	109798808	109798808	G	A	exonic	TRPV4	.	stopgain	TRPV4:NM_001177428:exon4:c.C817T:p.R273X,TRPV4:NM_001177433:exon4:c.C817T:p.R273X,TRPV4:NM_147204:exon5:c.C958T:p.R320X,TRPV4:NM_001177431:exon6:c.C856T:p.R286X,TRPV4:NM_021625:exon6:c.C958T:p.R320X	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	462180	not_provided|Scapuloperoneal_spinal_muscular_atrophy|Brachyrachia_(short_spine_dysplasia)|Spondylometaphyseal_dysplasia,_Kozlowski_type|Metatropic_dysplasia|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8|Charcot-Marie-Tooth_disease_axonal_type_2C|not_specified|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease	MedGen:C3661900|MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255|MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304|MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314|MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635|MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216|MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.946e-05	0	0	0	0	9.002e-05	0	0	3.88e-05	6	154602	rs142902080	9.03e-05	9.029e-05	0.0001	7.425e-05	0.0002	7.756e-05	7.299e-05	9.611e-05	8.958e-05	5.974e-05	2.236e-05	0	0	0	0.0002	0.0001	3.311e-05	1.159e-05	5.257e-05	5.253e-05	8.991e-05	1.345e-05	0.0001	2.557e-05	1.83e-05	4.764e-05	3.338e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.972	0.98563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345987	0.86236	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;.	High;High;.;.;.;.	8.328558	0.97435	37	0.99818041780347622	0.90150	0.94139	0.60230	D	AEFDBI	0.169765	0.29662	N	0.541410342778937	0.69559	5.37441	0.270191062622782	0.53806	3.547888	0.00997145105837718	0.11944	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.37	3.45	0.38602	1.880000	0.39263	4.948000	0.46261	0.676000	0.76740	0.623000	0.27939	1.000000	0.68203	0.328000	0.25156	0.0:0.0:0.828:0.172	12.668	0.56217	704	0.57414	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1258.83	38	chr12	109798808	.	G	A	1258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.114;DP=302;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.181;SOR=1.075	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1269,0,1561	5	0	1	0
chr12	110403634	110403634	C	G	exonic	ANAPC7	.	nonsynonymous SNV	ANAPC7:NM_001137664:exon1:c.G96C:p.Q32H	.	431	1082	8	1	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0109	0.0113818	0.0078	0.0492	0.0094	0	0	0.0045	0.0105	0.0004	0.004062	628	154602	rs138457092	0.0021	0.0021	0.0022	0.0020	0.0301	0.0020	0.0020	0.0286	0.0279	0.0301	0.0041	0.0156	0	3.864e-05	0.0126	0.0010	0.0048	0.0003	0.0098	0.0098	0.0101	0.0096	0.0291	0.0094	0.0092	0.0278	0.0272	0.0291	0	0.0065	0.0199	0	0	0.0408	0.0013	0.0085	0.0002	0.168	0.23007	T	0.119	0.36101	T	0.042	0.23930	B	0.025	0.25995	B	.	.	.	.	0.999841	0.20103	N	0	0.06538	N	-0.06	0.63568	T	0.0	0.07008	N	0.081	0.19728	-1.0555	0.12908	T	0.050	0.21300	T	9	0.002744764	0.00043	T	.	.	.	0.057	0.16321	0.313	0.28774	0.439949123286	0.43613	0.12583829450916081	0.12509	0.640425930925	0.57674	0.345411896706	0.17244	T	0.051436	0.28879	T	-0.474772	0.00794	T	-0.430379	0.29891	T	0.0315332421110311	0.02231	T	0.366763	0.08556	T	0.1453602	0.33325	0.20709682	0.44954	0.1453602	0.33325	0.20709682	0.44953	-3.461	0.15890	T	.	.	0.140	0.32202	B	.;.	.;.	1.077992	0.14608	11.17	0.8714836067367332	0.17021	0.18998	0.20487	N	ALL	0.107204	0.21366	N	-0.514084524135217	0.21623	1.148949	-0.391964502692429	0.25235	1.386576	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.21	5.21	0.72005	0.519000	0.22570	-0.142000	0.11507	0.599000	0.40250	0.029000	0.20367	0.000000	0.08366	0.049000	0.15107	0.1604:0.8396:0.0:0.0	13.034	0.58265	222	0.91398	.;.	.	.	.	.	.	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	0.023162	0.071429	0.027248	0.017544	0.050000	0.017241	0.012195	0.011364	0.08333	265.83	33	chr12	110403634	.	C	G	265.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=0.142;SOR=0.801	GT:AD:DP:GQ:PL	0/1:19,12:31:99:276,0,503	5	0	1	0
chr12	110468566	110468566	C	T	exonic	GPN3	.	nonsynonymous SNV	GPN3:NM_001164372:exon1:c.G71A:p.G24E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00123166981038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217722335	7.221e-07	6.84e-07	0	1.463e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999895	0.22287	N	.	.	.	1.71	0.26737	T	-0.25	0.11008	N	0.083	0.05929	-1.0057	0.28247	T	0.024	0.10329	T	7	0.06769633	0.09470	T	0.001232	0.01633	T	0.021	0.04004	0.25	0.18757	0.144782658237	0.14088	0.06806804752868734	0.06744	0.256200401106	0.28190	0.222963660955	0.01488	T	.	.	.	-0.299123	0.08743	T	-0.667446	0.07773	T	0.0896306051680423	0.11174	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.083	0.09045	B	.	.	0.309121	0.06842	3.372	0.86557924032985434	0.16617	0.01744	0.05500	N	ALL	0.026477	0.01996	N	-1.05849825374322	0.07421	0.3447192	-1.20376519053375	0.05849	0.2798699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.45	-4.07	0.03707	-0.193000	0.09572	-0.029000	0.12820	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2386:0.3172:0.1872:0.257	0.438	0.00448	223	0.91367	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1641.83	34	chr12	110468566	.	C	T	1641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.337;SOR=0.702	GT:AD:DP:GQ:PL	0/1:78,66:144:99:1652,0,1864	5	0	1	0
chr12	111756411	111756411	G	A	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon21:c.G3118A:p.D1040N,ACAD10:NM_001136538:exon22:c.G3211A:p.D1071N	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0317752660154	0.0005	0.000798722	0.0003	0.0007	0.0002	0	0	0.0004	0	6.583e-05	0.0002846	44	154602	rs142030532	0.0002	0.0002	0.0003	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0006	0.0002	0	0.0002	3.805e-05	0.0014	0.0002	0.0004	9.303e-05	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0003	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999701	0.81001	D	.	.	.	-3.93	0.96111	D	-4.22	0.75854	D	0.686	0.69213	1.096	0.99499	D	0.958	0.98639	D	10	0.43377528	0.57660	T	0.031775	0.53776	D	0.696	0.89007	.	.	0.904383710221	0.90342	0.7187078924800595	0.71813	0.16433557484	0.18543	0.591018974781	0.51637	T	0.752825	0.93241	D	-0.103616	0.35826	T	-0.0201715	0.69017	D	0.121477037616666	0.14573	T	0.991801	0.97430	D	0.4205179	0.62126	0.42083362	0.66034	0.4205179	0.62127	0.42083362	0.66034	-13.452	0.91494	D	.	.	0.726	0.75157	P	.;.	.;.	3.565450	0.50190	22.9	0.99893285300126622	0.96666	0.93092	0.57307	D	AEFDBI	0.486636	0.52572	N	0.78721040606921	0.85296	8.534669	0.637637391135748	0.77691	6.728724	0.999999987847054	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	4.899000	0.62932	1.425000	0.26398	0.672000	0.70159	0.999000	0.42656	0.853000	0.27411	0.225000	0.22599	0.0:0.0:1.0:0.0	18.567	0.91075	435	0.80441	.;Acyl-CoA dehydrogenase/oxidase C-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	.	.	.	.	.	.	.	.	0.08333	775.83	35	chr12	111756411	.	G	A	775.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.594;DP=240;ExcessHet=0;FS=8.966;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.15;SOR=0.939	GT:AD:DP:GQ:PL	0/1:31,30:61:99:786,0,829	5	0	1	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N,WSB2:NM_018639:exon3:c.G358A:p.D120N	.	427	1051	42	2	0	46	0.0214153	.	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	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	0.010070	0.005051	0.017663	0.000000	0.000000	0.025862	0.006098	0.007576	0.25	5872.0	34	chr12	118043202	.	C	T	5872.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.53;DP=397;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=-0.125;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1482,0,1482	4	1	1	0
chr12	121780955	121780955	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon4:c.G388A:p.G130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.131079426331	7.7e-05	.	2.525e-05	9.948e-05	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs148962846	2.873e-05	2.873e-05	2.995e-05	2.75e-05	0.0002	2.151e-05	1.908e-05	7.282e-05	5.161e-05	0	0.0002	0	0	0	0	3.148e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.003	0.92824	D	0.998	0.77913	D	0.797	0.63100	P	0.000001	0.84330	D	0.054537	1	0.81001	D	3.86	0.95841	H	-1.98	0.85247	D	-5.54	0.86149	D	0.914	0.97317	0.819	0.94639	D	0.798	0.93170	D	10	0.9162528	0.90985	D	0.131079	0.81330	D	0.854	0.95507	.	.	0.944546744417	0.94396	0.9057710632172282	0.90550	0.852135342546	0.68586	0.710303664207	0.68637	T	0.747448	0.95830	D	0.306017	0.83441	D	0.377643	0.91348	D	0.989755928516388	0.79975	D	0.952705	0.90967	D	0.6393334	0.74795	0.62237537	0.77997	0.6393334	0.74797	0.62237537	0.77998	-10.447	0.76542	D	.	.	0.868	0.82620	P	.;.;.;.;.	.;.;.;.;.	5.669238	0.92926	33	0.99849421018950157	0.92925	0.95258	0.64026	D	AEFDGBCI	0.908261	0.86333	D	0.801879230494897	0.86222	8.817081	0.711236337228785	0.83231	7.968	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	7.568000	0.81546	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.605	0.91218	662	0.61715	Small GTP-binding protein 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	.	.	.	.	.	.	.	.	0.08333	1206.83	33	chr12	121780955	.	C	T	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=257;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.209;SOR=0.83	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1217,0,917	5	0	1	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V,LRRC43:NM_152759:exon5:c.A256G:p.I86V	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	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	0	0	0.014602	0.005051	0.010870	0.040936	0.000000	0.025862	0.009146	0.000000	0.25	3175.0	37	chr12	122190278	.	A	G	3175.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.442;DP=336;ExcessHet=0;FS=2.153;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=1.7;SOR=0.506	GT:AD:DP:GQ:PL	0/1:49,30:79:99:687,0,1335	4	1	1	0
chr12	123309375	123309375	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon28:c.G3565A:p.E1189K,SBNO1:NM_018183:exon28:c.G3562A:p.E1188K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0836229736956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.34621	T	0.076	0.43531	T	0.001	0.09854	B	0.001	0.08700	B	0.000721	0.42129	D	0.200475	0.999997	0.58761	D	1.385	0.34509	L	-1.71	0.83157	D	-2.2	0.49519	N	0.396	0.43706	-0.3798	0.72657	T	0.423	0.76776	T	10	0.27244127	0.44788	T	0.083623	0.74153	D	0.378	0.69612	0.5	0.59147	0.362933182269	0.35899	0.7401398360415128	0.73958	0.763264637565	0.64376	0.718657791615	0.69850	T	0.179444	0.53043	T	0.104379	0.64763	D	-0.0878435	0.64323	T	0.860445857048035	0.51092	D	0.983102	0.94254	D	0.21058935	0.43359	0.18665552	0.41850	0.21058935	0.43359	0.18665552	0.41849	-7.979	0.60927	D	.	.	0.197	0.41843	B	.;.;.	.;.;.	4.391786	0.67780	25.1	0.99787204557545572	0.87308	0.98916	0.88583	D	AEFBI	0.825011	0.74479	D	0.0574862380157154	0.44489	2.721896	0.236895074315678	0.51906	3.36933	0.99734358728419	0.35520	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	7.879000	0.85694	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.736	0.91717	458	0.78890	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	901.83	36	chr12	123309375	.	C	T	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=279;ExcessHet=0;FS=10.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.56;SOR=1.576	GT:AD:DP:GQ:PL	0/1:65,34:99:99:912,0,1757	5	0	1	0
chr12	124993835	124993835	-	CTGCTGCTG	exonic	BRI3BP	.	nonframeshift insertion	BRI3BP:NM_080626:exon1:c.45_46insCTGCTGCTG:p.L25_G26insLLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0	0	.	0	0	0	0.0038	3.88e-05	6	154602	rs546819378	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0019	0.0017	0.0002	0.0002	9.764e-05	0.0016	0.0002	0.0008	0.0004	0.0004	0.0024	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0002	0	0.0012	0.0001	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	893.27	22	chr12	124993835	.	C	CCTGCTGCTG	893.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.566;DP=70;ExcessHet=0.7136;FS=3.528;MLEAC=1;MLEAF=0.083;MQ=59.48;MQRankSum=0;QD=27.07;ReadPosRankSum=-1.292;SOR=1.476	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	5	0	1	0
chr12	131136098	131136098	G	A	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.G2329A:p.V777M,ADGRD1:NM_001330497:exon23:c.G2425A:p.V809M	.	411	1110	1	0	0	1	0.000450248	.	.	.	2198795	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0308879221469	0.0004	0.000199681	0.0003	0.0010	0.0003	0	0.0002	0.0003	0	6.066e-05	0.0002523	39	154602	rs144814859	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0009	0.0008	0.0012	0.0005	0	5.038e-05	0.0001	0.0005	7.374e-05	0.0002	9.275e-05	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0009	0.0008	0.0011	0	0.0014	0	0.0004	0	0	5.879e-05	0.0019	0	0.045	0.43393	D	0.007	0.69154	D	0.968	0.56581	D	0.582	0.50238	P	0.000238	0.47286	D	0.137256	0.994619	0.42349	D	.	.	.	0.92	0.44461	T	-1.21	0.31576	N	0.742	0.75009	-0.9324	0.43785	T	0.106	0.38709	T	10	0.16570267	0.30964	T	0.030888	0.53099	D	0.178	0.44724	.	.	0.473538153929	0.46983	0.5393595857540632	0.53860	0.585778978891	0.54207	0.667350590229	0.62460	T	0.034772	0.23454	T	-0.364174	0.03899	T	-0.331265	0.41328	T	0.0631727281977282	0.07658	T	0.966303	0.87634	D	0.07759161	0.17622	0.10558186	0.25383	0.07759161	0.17621	0.10558186	0.25382	-7.491	0.59754	T	.	.	0.279	0.51245	B	.;.;.;.	.;.;.;.	3.913055	0.57078	23.8	0.99421815540811964	0.63790	.	.	.	.	0.527186	0.54923	D	0.13724623098167	0.48208	3.036083	0.0432979939897672	0.41750	2.513435	0.00317635277101382	0.09972	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	3.71	0.41733	3.818000	0.55378	7.198000	0.57790	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.098:0.0:0.902:0.0	10.360	0.43167	988	0.01987	GPCR, family 2-like;.;GPCR, family 2-like;.	.	.	.	.	.	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	0.001512	0.000000	0.002725	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	567.83	48	chr12	131136098	.	G	A	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.573;DP=274;ExcessHet=0;FS=2.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-1.954;SOR=0.411	GT:AD:DP:GQ:PL	0/1:27,24:51:99:578,0,690	5	0	1	0
chr12	132020126	132020126	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon22:c.C4355T:p.T1452M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0131172845394	.	0.000199681	0.0002	0	0	0.0021	0	1.518e-05	0	6.199e-05	0.0001358	21	154602	rs553207849	8.772e-05	8.961e-05	9.681e-05	7.854e-05	0.0029	7.501e-05	7.048e-05	0.0025	0.0023	2.992e-05	0	0	0.0029	1.877e-05	0	4.5e-06	8.288e-05	2.338e-05	9.191e-05	9.842e-05	0.0001	8.056e-05	0.0019	5.523e-05	4.361e-05	0.0010	0.0008	2.406e-05	0	0	0	0.0019	9.411e-05	0	1.47e-05	0	0.0002	0.287	0.15149	T	0.222	0.25748	T	0.145	0.27759	B	0.03	0.21741	B	0.079267	0.20995	N	0.503154	0.971049	0.25673	N	.	.	.	-2.69	0.90451	D	-2.3	0.51157	N	0.278	0.35727	-0.4582	0.70128	T	0.495	0.80854	T	10	0.01616615	0.00340	T	0.013117	0.32271	T	0.175	0.44197	.	.	0.28494636882	0.28116	0.2244083020278702	0.22355	0.465098065425	0.45962	0.41351723671	0.26943	T	.	.	.	-0.34795	0.04857	T	-0.279846	0.46820	T	0.0466436070349301	0.04900	T	0.715028	0.32735	T	.	.	.	.	.	.	.	.	-5.862	0.45110	T	.	.	0.112	0.22024	B	.;.	.;.	3.012969	0.40302	21.1	0.95830495151823247	0.27936	0.98252	0.80950	D	AEFDBI	0.403313	0.47705	N	-0.242987801900162	0.31383	1.759217	-0.0889530542397591	0.35846	2.078713	0.986625158121177	0.31096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.56	4.66	0.57857	2.631000	0.46169	4.795000	0.44928	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.458000	0.28074	0.0:0.8423:0.0:0.1577	9.834	0.40124	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1119.83	34	chr12	132020126	.	C	T	1119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.932;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.042;SOR=0.77	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1130,0,1175	5	0	1	0
chr13	19825016	19825016	A	G	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001142684:exon8:c.T1471C:p.S491P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00244905693269	9.7e-05	.	9.456e-05	0	0.0002	0	0	0.0001	0	6.396e-05	9.06e-05	14	154602	rs201812068	8.146e-05	6.977e-05	7.341e-05	8.966e-05	0.0007	6.819e-05	6.327e-05	0.0002	9.695e-05	3.802e-05	0.0002	5.923e-05	0	0	0.0007	7.129e-05	0.0002	0.0001	0.0001	0.0001	7.71e-05	0.0001	0.0004	6.512e-05	5.323e-05	7.293e-05	5.087e-05	0	0	0.0001	0.0003	0	0	0	0.0001	0.0010	0.0004	0.276	0.15717	T	0.308	0.19845	T	0.842	0.46562	P	0.1	0.30674	B	0.005613	0.32654	N	0.323197	1	0.08975	N	0.345	0.11182	N	2.13	0.19588	T	-1.17	0.29933	N	0.046	0.01825	-1.0043	0.28666	T	0.027	0.11751	T	10	0.070673585	0.10313	T	0.002449	0.04840	T	0.024	0.04979	.	.	0.0138822411134	0.00435	.	.	.	.	0.257537126541	0.04602	T	0.011589	0.14916	T	-0.519435	0.00443	T	-0.71948	0.04821	T	0.043981748819377	0.04417	T	0.251875	0.03822	T	0.0906185	0.21209	0.06722578	0.13879	0.0906185	0.21209	0.06722578	0.13879	-3.301	0.13750	T	.	.	0.069	0.03162	B	.;.	.;.	-0.635852	0.01477	0.091	0.3765111614522032	0.02494	0.00777	0.03195	N	AEFDBI	0.030256	0.03009	N	-1.47702608194445	0.02013	0.08844644	-1.68556720451351	0.01202	0.05413561	0.0045692570263823	0.10618	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.18	-2.09	0.06831	-0.389000	0.07401	-1.406000	0.05514	-4.912000	0.00018	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5544:0.0:0.4456:0.0	4.332	0.10508	917	0.20147	.;.	.	.	.	.	.	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	0	0	0.002068	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1154.83	37	chr13	19825016	.	A	G	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.262;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.35;SOR=0.682	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1165,0,983	5	0	1	0
chr13	25313698	25313698	C	G	exonic	NUP58	.	nonsynonymous SNV	NUP58:NM_001008564:exon4:c.C485G:p.A162G,NUP58:NM_014089:exon5:c.C521G:p.A174G	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00696796405771	0.0008	0.00139776	0.0005	0.0020	8.651e-05	0.0003	0	0.0004	0	0.0005	0.000511	79	154602	rs150394051	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0018	0.0002	0.0041	0.0002	0	0.0014	6.27e-05	0.0005	0.0003	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0001	0.0038	0.0002	0	0	0.0002	0.0009	0.0002	0.177	0.30515	T	0.744	0.20745	T	0.001	0.07471	B	0.0	0.08700	B	0.022559	0.26612	N	0.401211	0.853727	0.31351	N	.	.	.	1.42	0.49919	T	-0.27	0.15178	N	0.251	0.29313	-0.9222	0.45252	T	0.119	0.41799	T	10	0.007694006	0.00175	T	0.006968	0.18458	T	0.086	0.25016	.	.	0.537170616986	0.53368	0.6012586780583602	0.60056	0.326578704726	0.34803	0.346839815378	0.17455	T	0.00843	0.07741	T	-0.424912	0.01592	T	-0.390397	0.34506	T	0.00883578472236739	0.00109	T	0.740526	0.37241	T	0.10707253	0.25318	0.10730375	0.25829	0.10707253	0.25318	0.10730375	0.25828	-0.947	0.00942	T	.	.	0.096	0.20313	B	.;.;.;.;.	.;.;.;.;.	2.878950	0.38092	20.7	0.99218258527020542	0.55808	0.97041	0.72348	D	AEFBI	0.359126	0.44956	N	-0.118630834725553	0.36582	2.116455	0.0635071717060345	0.42729	2.589632	0.999985293289281	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.83	4.98	0.65679	4.162000	0.57962	3.299000	0.37367	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.874:0.126:0.0	17.179	0.86730	809	0.43032	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	638.83	34	chr13	25313698	.	C	G	638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.256;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.189;SOR=0.743	GT:AD:DP:GQ:PL	0/1:20,24:44:99:649,0,525	5	0	1	0
chr13	41470479	41470479	T	G	exonic	RGCC	.	nonsynonymous SNV	RGCC:NM_014059:exon5:c.T408G:p.S136R	.	434	1087	1	0	0	1	0.00045977	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0167972644062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313568082	2.053e-06	2.052e-06	4.085e-06	0	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.015	0.61642	D	0.98	0.59353	D	0.711	0.54536	P	0.000000	0.84330	D	0.041945	0.999121	0.46125	D	2.25	0.63811	M	.	.	.	-3.19	0.64593	D	0.383	0.42443	-0.6750	0.61602	T	0.226	0.59070	T	9	0.23686495	0.40776	T	0.016797	0.38225	T	0.214	0.50650	0.258	0.20002	0.301122078929	0.29733	0.2549246940620098	0.25406	0.756635898776	0.64038	0.670550048351	0.62917	T	0.105736	0.41647	T	0.0212697	0.54554	T	-0.207224	0.53961	T	0.874912142753601	0.52478	D	0.411359	0.10665	T	0.48766646	0.66363	0.37145063	0.62374	0.48766646	0.66364	0.37145063	0.62374	-6.936	0.53566	T	.	.	0.691	0.72581	P	.	.	3.275776	0.44858	22.0	0.99562950512568416	0.71892	0.71199	0.34911	D	AEFDBCI	0.204946	0.33134	N	-0.084506928416323	0.38071	2.224266	-0.181488267034237	0.32217	1.830753	0.998586369604977	0.37247	0.67177	0.52595	0	0.53679	0.11191	0	0.408882	0.06424	0	0.711	0.71501	0	.	.	5.52	-1.43	0.08418	0.646000	0.24486	0.421000	0.18220	-0.144000	0.12334	1.000000	0.71638	0.999000	0.35428	0.840000	0.39645	0.0:0.4056:0.0:0.5944	9.633	0.38958	670	0.60992	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	874.83	42	chr13	41470479	.	T	G	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.168;DP=277;ExcessHet=0;FS=7.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.365;SOR=0.567	GT:AD:DP:GQ:PL	0/1:47,37:84:99:885,0,1202	5	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,32:94:99:.:.:291,0,1592:.	1	0	5	0
chr13	45968948	45968948	C	T	exonic	ZC3H13	.	nonsynonymous SNV	ZC3H13:NM_001382214:exon11:c.G3095A:p.R1032H,ZC3H13:NM_001076788:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330564:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330565:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330567:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382207:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382208:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382210:exon14:c.G3596A:p.R1199H,ZC3H13:NM_015070:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330566:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382206:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382209:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382211:exon15:c.G3680A:p.R1227H,ZC3H13:NM_001382212:exon15:c.G3680A:p.R1227H,ZC3H13:NM_001382213:exon15:c.G3680A:p.R1227H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0117972233931	.	.	0.0001	0	0	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs755691752	9.85e-05	9.919e-05	0.0001	9.213e-05	0.0031	8.511e-05	7.981e-05	0.0020	0.0017	0	8.944e-05	0	5.038e-05	0	0.0031	8.993e-05	9.934e-05	0.0002	7.884e-05	7.88e-05	0.0001	5.381e-05	0.0001	4.496e-05	3.512e-05	7.907e-05	5.993e-05	0	0	6.545e-05	0	0	0	0	0.0001	0.0005	0	0.006	0.65419	D	0.329	0.18732	T	0.835	0.46254	P	0.096	0.36635	B	0.000038	0.55875	D	0.000000	0.994098	0.48270	D	1.5	0.37844	L	2.42	0.33189	T	-1.16	0.29727	N	0.418	0.45803	-1.0993	0.04177	T	0.051	0.21495	T	10	0.132943	0.25302	T	0.011797	0.29782	T	0.119	0.33137	0.206	0.12216	0.0934897674506	0.08844	0.15033481653800987	0.14955	0.427248383646	0.43073	.	.	.	0.011043	0.09905	T	-0.254685	0.13530	T	-0.311465	0.43502	T	0.0567163681261978	0.06641	T	0.80032	0.44603	T	0.11735209	0.27666	0.08528229	0.19679	0.11735209	0.27666	0.08528229	0.19678	-4.863	0.38128	T	.	.	0.336	0.56258	B	.;.	.;.	5.160472	0.86467	28.9	0.99858934175971492	0.93729	0.95051	0.63259	D	AEFBI	0.376418	0.46057	N	0.258626216865516	0.54067	3.573264	0.382155839163605	0.60464	4.234356	0.999235778477	0.38840	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	3.531000	0.53302	7.660000	0.64180	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.235	0.73115	677	0.60274	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1315.83	34	chr13	45968948	.	C	T	1315.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.263;DP=269;ExcessHet=0;FS=14.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.172;SOR=0.572	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1326,0,1187	5	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.1667	111.06	73	chr13	48459808	.	T	C	111.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.727;DP=395;ExcessHet=0.4139;FS=123.222;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.184;SOR=7.853	GT:AD:DP:GQ:PL	0/1:77,29:106:56:56,0,1270	4	0	2	0
chr13	49630512	49630512	C	T	exonic	ARL11	.	nonsynonymous SNV	ARL11:NM_138450:exon2:c.C65T:p.S22L	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0355520124619	0.0005	0.00119808	0.0002	0.0011	0.0006	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs147389782	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0.0002	0	7.557e-05	0	0.0002	0.0002	0.0005	2.319e-05	0.0005	0.0005	0.0005	0.0005	0.0013	0.0004	0.0004	0.0009	0.0007	0.0009	0	0.0013	0	0.0002	0	0	0.0002	0.0014	0	0.115	0.28520	T	0.201	0.27503	T	0.008	0.14655	B	0.012	0.16012	B	0.025374	0.26100	N	0.380209	0.977281	0.25322	N	1.04	0.26193	L	-1.66	0.82715	D	-3.61	0.69477	D	0.103	0.08646	-0.5770	0.65736	T	0.388	0.74268	T	10	0.018146217	0.00392	T	0.035552	0.56423	D	0.137	0.36984	.	.	0.834768861439	0.83319	0.5944531154528	0.59375	0.138887644583	0.15665	0.381043791771	0.22404	T	0.067553	0.33232	T	-0.380195	0.03107	T	-0.354279	0.38715	T	0.0061764401909781	0.00068	T	0.790621	0.43132	T	0.055327956	0.10739	0.0841555	0.19337	0.055327956	0.10738	0.0841555	0.19337	-6.048	0.46679	T	.	.	0.183	0.39664	B	.	.	0.585865	0.09544	6.319	0.92158612121770689	0.21520	0.12846	0.17514	N	AEFBCI	0.116667	0.22888	N	-0.880783240820179	0.11301	0.544608	-0.936208587335492	0.11244	0.5716414	0.999680419922664	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.601832	0.32385	0	0.620204	0.46100	0	.	.	5.09	1.38	0.21262	0.001000	0.12940	0.040000	0.13855	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.1353:0.4125:0.1319:0.3203	1.523	0.02367	414	0.81871	Small GTP-binding protein 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	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	797.83	33	chr13	49630512	.	C	T	797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=240;ExcessHet=0;FS=2.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.99;SOR=1.022	GT:AD:DP:GQ:PL	0/1:32,29:61:99:808,0,845	5	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	490.96	102	chr13	69882456	.	G	A	490.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.995;DP=617;ExcessHet=3.1439;FS=210.877;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.597;SOR=10.694	GT:AD:DP:GQ:PL	0/1:64,36:107:73:73,0,1095	2	0	4	0
chr13	71489056	71489056	A	G	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_004392:exon3:c.T1057C:p.S353P,DACH1:NM_080760:exon4:c.T1219C:p.S407P,DACH1:NM_080759:exon7:c.T1663C:p.S555P,DACH1:NM_001366712:exon8:c.T1819C:p.S607P	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00429439363154	0.0007	.	0.0008	0.0001	0.0006	0	0	0.0010	0.0044	0.0011	0.0006986	108	154602	rs199546133	0.0005	0.0005	0.0005	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0.0002	0.0010	0.0041	0	0	0.0068	0.0004	0.0014	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0001	0.0011	0.0014	0.0032	0	9.434e-05	0.0068	0.0006	0.0014	0.0008	.	.	.	0.136	0.35970	T	0.12	0.26678	B	0.047	0.24832	B	0.000001	0.62929	N	0.059502	0.999996	0.58761	D	.	.	.	.	.	.	.	.	.	0.401	0.79022	-1.0050	0.28457	T	0.079	0.31314	T	10	0.012323052	0.00265	T	0.004294	0.10404	T	.	.	.	.	0.0675242888579	0.06100	0.8185780371334843	0.81814	.	.	0.805096030235	0.82739	D	.	.	.	-0.0947545	0.37290	T	0.0406745	0.72971	D	0.0401901627869894	0.03725	T	0.70483	0.31518	T	0.3478821	0.56901	0.4192196	0.65922	0.3478821	0.56902	0.4192196	0.65923	-10.107	0.74550	D	.	.	0.114	0.22537	B	.;.;.;.	.;.;.;.	3.097411	0.41726	21.4	0.99508693225757616	0.68499	0.94465	0.61253	D	AEFI	0.909504	0.86623	D	-0.0712733207485795	0.38657	2.267412	0.0668463055004484	0.42895	2.602562	0.180185007941854	0.17861	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.11	3.93	0.44666	5.720000	0.68118	8.067000	0.76424	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9256:0.0:0.0744:0.0	10.885	0.46172	965	0.07246	.;.;.;.	.	.	.	.	.	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	0.005544	0.005051	0.004076	0.005848	0.000000	0.008621	0.009202	0.003788	0.08333	372.83	37	chr13	71489056	.	A	G	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.764;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.753;SOR=0.567	GT:AD:DP:GQ:PL	0/1:23,17:40:99:383,0,642	5	0	1	0
chr13	72998849	72998849	G	A	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon17:c.G2077A:p.V693I,PIBF1:NM_001349655:exon18:c.G2164A:p.V722I	.	.	.	.	.	.	.	.	.	.	.	2679836	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.00289344395587	7.7e-05	0.000199681	6.659e-05	0	0.0002	0	0	6.066e-05	0	0.0001	5.82e-05	9	154602	rs148502626	6.783e-05	6.84e-05	5.726e-05	7.85e-05	0.0004	5.678e-05	5.268e-05	0.0003	0.0002	0.0004	0.0002	0.0015	5.068e-05	0	0.0003	1.26e-05	0.0002	3.495e-05	0.0003	0.0003	0.0002	0.0004	0.0020	0.0002	0.0002	0.0015	0.0013	4.819e-05	0	0.0020	0.0023	0	0	0	0	0	0	0.993	0.01954	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.614843	0.10833	N	0.807286	1	0.08975	N	-1.445	0.00556	N	2.16	0.19166	T	0.24	0.04533	N	0.068	0.08506	-0.9869	0.33371	T	0.016	0.06616	T	10	0.0077511966	0.00176	T	0.002893	0.06104	T	0.066	0.19193	.	.	0.0954503805726	0.09146	0.037732014732913675	0.03719	0.0408442198111	0.04386	0.27326887846	0.06571	T	0.002082	0.01490	T	-0.587308	0.00174	T	-0.779683	0.02463	T	0.00688233376867419	0.00078	T	0.716128	0.32863	T	0.013680956	0.00066	0.024693979	0.00494	0.013680956	0.00066	0.024693979	0.00494	-3.323	0.18876	T	.	.	0.065	0.02578	B	.;.	.;.	0.743011	0.11122	7.769	0.52596189041552888	0.04778	0.07917	0.13904	N	AEFI	0.025345	0.01720	N	-1.05360313124428	0.07516	0.3494539	-0.904945163158809	0.11977	0.6134549	0.0376639426188313	0.14309	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.64	0.252	0.14804	1.806000	0.38530	0.977000	0.23099	-0.633000	0.04490	0.991000	0.37257	0.132000	0.23010	0.919000	0.45453	0.4447:0.2365:0.2039:0.1149	1.482	0.02291	951	0.11083	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	686.83	33	chr13	72998849	.	G	A	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.172;DP=217;ExcessHet=0;FS=1.335;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.661;SOR=0.437	GT:AD:DP:GQ:PL	0/1:18,27:45:99:697,0,421	5	0	1	0
chr13	76957861	76957861	T	C	exonic	ACOD1	.	nonsynonymous SNV	ACOD1:NM_001258406:exon5:c.T1322C:p.I441T	.	425	1087	9	0	1	10	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00804448323855	.	0.00119808	0.0020	0.0009	0.0033	0	0.0012	0.0025	0	0.0020	0.0006792	105	154602	rs116937385	0.0034	0.0032	0.0034	0.0033	0.0047	0.0033	0.0032	0.0037	0.0036	0.0007	0.0018	0.0002	5.596e-05	0.0041	0.0047	0.0038	0.0029	0.0019	0.0026	0.0026	0.0026	0.0025	0.0038	0.0024	0.0023	0.0034	0.0033	0.0008	0.0011	0.0020	0	0.0002	0.0048	0	0.0038	0.0038	0.0017	0.428	0.09717	T	0.436	0.13518	T	.	.	.	.	.	.	0.413653	0.12963	N	0.768382	1	0.08975	N	-0.145	0.04423	N	.	.	.	-0.22	0.10480	N	0.052	0.02366	-0.9808	0.34817	T	0.032	0.13811	T	7	0.0068241954	0.00155	T	0.008044	0.21316	T	0.069	0.20116	.	.	0.0297737177859	0.01360	0.287436990976089	0.28656	.	.	0.284151256084	0.08077	T	0.005906	0.05354	T	-0.591143	0.00165	T	-0.623069	0.10946	T	0.00374820132370884	0.00040	T	0.572743	0.20478	T	0.064329855	0.13637	0.048274547	0.07137	0.064329855	0.13637	0.048274547	0.07137	-2.655	0.06933	T	.	.	0.073	0.04723	B	.;.	.;.	-0.425891	0.02117	0.201	0.39198070028937465	0.02690	0.05145	0.10956	N	AEFDBI	0.094890	0.19179	N	-0.84459848173983	0.12182	0.5923094	-0.902796803682885	0.12027	0.6163549	0.999817226941302	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	-2.67	0.05703	0.813000	0.26883	-1.117000	0.06280	-0.672000	0.04293	0.010000	0.18352	0.000000	0.08366	0.237000	0.22922	0.0:0.6171:0.1598:0.2231	8.709	0.33535	933	0.16026	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	743.83	36	chr13	76957861	.	T	C	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.3;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.3;SOR=0.673	GT:AD:DP:GQ:PL	0/1:39,26:65:99:754,0,1053	5	0	1	0
chr13	99295395	99295395	C	T	exonic	GPR183	.	nonsynonymous SNV	GPR183:NM_004951:exon2:c.G751A:p.V251I	.	425	1095	2	0	0	2	0.000912409	.	.	.	2349817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00303175810419	.	.	0.0001	9.81e-05	0	0	0	0.0002	0	6.066e-05	0.0001164	18	154602	rs201755595	7.867e-05	7.867e-05	7.215e-05	8.526e-05	9.353e-05	6.667e-05	6.201e-05	7.861e-05	7.345e-05	0	4.472e-05	3.826e-05	0	0	0	9.353e-05	8.279e-05	3.478e-05	0.0001	0.0001	0.0001	9.423e-05	0.0002	7.584e-05	6.288e-05	0.0001	9.9e-05	2.416e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.884	0.02519	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.021541	0.26810	N	0.380251	0.795042	0.29181	N	-0.02	0.05091	N	1.24	0.36691	T	0.19	0.04947	N	0.102	0.08506	-0.9974	0.30646	T	0.027	0.11485	T	9	0.023148626	0.00597	T	0.003032	0.06517	T	0.036	0.09122	0.624	0.75916	0.0920862733494	0.08535	0.11807231241806063	0.11734	0.2501032942	0.27591	0.332118272781	0.15254	T	0.081301	0.36566	T	-0.453312	0.01080	T	-0.629249	0.10472	T	0.00858541456567678	0.00105	T	0.672333	0.28093	T	0.03422338	0.03798	0.039931975	0.04200	0.03422338	0.03797	0.039931975	0.04200	-3.567	0.17381	T	.	.	0.091	0.12938	B	.	.	1.340187	0.17468	13.18	0.76210588567059234	0.11377	0.26438	0.22993	N	AEFDGBCI	0.091306	0.18496	N	-0.733491324009042	0.15085	0.7571635	-0.556847097222618	0.20624	1.112024	0.999999791426997	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.91	1.72	0.23498	-0.009000	0.12703	0.833000	0.21967	0.599000	0.40250	0.323000	0.25529	0.000000	0.08366	0.994000	0.71098	0.0:0.5602:0.138:0.3018	6.603	0.21905	912	0.21483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1132.83	36	chr13	99295395	.	C	T	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.832;DP=284;ExcessHet=0;FS=3.698;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.718;SOR=0.992	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1143,0,1879	5	0	1	0
chr14	19781253	19781253	G	A	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.G931A:p.E311K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00318015179772	0.0002	0.000399361	0.0005	0.0001	0.0004	0	0	0.0003	0	0.0025	0.000401	62	154602	rs2318549	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.02e-05	0.0002	0.0002	0	0	0.0035	0.0002	0.0004	0.0023	0.0002	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.404e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0009	0.0021	1.0	0.00964	T	0.951	0.02610	T	0.0	0.02946	B	0.0	0.01387	B	0.013227	0.28908	N	0.244803	0.999986	0.18198	N	-0.205	0.04094	N	9.91	0.00000	T	0.41	0.03407	N	0.149	0.15187	-1.1481	0.01083	T	0.000	0.00039	T	10	0.0059630275	0.00134	T	0.00318	0.06966	T	0.080	0.23350	.	.	0.33835085245	0.33439	0.1229335702098152	0.12219	0.00235242544378	0.00204	0.417993187904	0.27561	T	0.001081	0.00603	T	-0.654698	0.00068	T	-0.719372	0.04826	T	0.0086430702238138	0.00106	T	0.344066	0.07525	T	0.03778965	0.04913	0.051260136	0.08214	0.03778965	0.04913	0.051260136	0.08214	-1.404	0.01579	T	.	.	0.060	0.00919	B	.;.	.;.	0.744457	0.11139	7.782	0.55914138705577587	0.05442	0.00847	0.03386	N	AEFGI	0.026292	0.01947	N	-0.857016938671583	0.11878	0.5757078	-0.693444924623671	0.17123	0.9091206	4.45107030509885E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	2.88	0.32617	0.679000	0.24971	2.853000	0.35153	-0.067000	0.16409	0.001000	0.13787	0.999000	0.35428	0.266000	0.23669	0.7275:0.1747:0.0977:0.0	5.457	0.15894	994	0.00715	.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.1667	6094.04	162	chr14	19781253	.	G	A	6094.04	.	AC=2;AF=0.167;AN=12;DP=804;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.88;QD=33.3;SOR=2.316	GT:AD:DP:GQ:PL	1/1:0,183:183:99:6114,548,0	5	1	0	0
chr14	23143162	23143162	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267036:exon2:c.C236A:p.T79N,SLC7A8:NM_001267037:exon2:c.C33A:p.H11Q,SLC7A8:NM_012244:exon4:c.C551A:p.T184N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.176988216526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044936	0.999998	0.81001	D	.	.	.	-2.55	0.89561	D	-4.64	0.79316	D	0.882	0.88027	0.980	0.96856	D	0.843	0.94753	D	10	0.892818	0.88629	D	0.176988	0.85257	D	0.723	0.90235	0.594	0.72371	0.950281912177	0.94976	0.911442705074045	0.91118	0.606375499986	0.55488	0.703430771828	0.67640	T	0.882033	0.97535	D	0.290747	0.82217	D	0.179861	0.81987	D	0.99386897933883	0.84849	D	0.970203	0.89869	D	0.8861081	0.90176	0.7960101	0.88020	0.8861081	0.90177	0.7960101	0.88020	-11.119	0.85469	D	.	.	0.872	0.81000	P	.;.;.	.;.;.	4.955148	0.81888	27.7	0.99383149229002599	0.61979	0.96838	0.71213	D	AEFGBI	0.920645	0.89293	D	0.935299273819419	0.93378	12.00047	0.902619910490726	0.95685	13.86441	0.999999999994924	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	5.75	0.90390	7.677000	0.83348	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.102	0.93259	882	0.29131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	113.83	34	chr14	23143162	.	G	T	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.988;DP=269;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.7;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,9:90:99:0|1:23143162_G_T:124,0,3374:23143162	5	0	1	0
chr14	23143164	23143164	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon2:c.C31A:p.H11N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0612071783793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.04	0.85703	D	-1.21	0.30762	N	0.557	0.58202	-0.5067	0.68406	T	0.424	0.76850	T	8	0.30361968	0.47892	T	0.061207	0.68255	D	0.249	0.55752	0.26	0.20315	0.77086461317	0.76876	.	.	.	.	.	.	.	.	.	.	0.195092	0.73434	D	0.0424595	0.73088	D	0.261628549795234	0.23386	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-4.526	0.31227	T	.	.	0.074	0.04975	B	.	.	1.105303	0.14901	11.42	0.9727068673379361	0.33135	0.79891	0.39680	D	AEFGBI	0.079748	0.16113	N	-0.150168534927963	0.35227	2.020759	-0.00403354956185389	0.39534	2.345408	0.99999755809117	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	3.94	0.44807	0.809000	0.26827	4.617000	0.44060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1475:0.0:0.712:0.1405	6.897	0.23443	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	113.87	34	chr14	23143164	.	G	T	113.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=321;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=1.7;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,9:90:99:0|1:23143162_G_T:124,0,3374:23143162	5	0	1	0
chr14	23143165	23143165	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267036:exon2:c.C233A:p.A78D,SLC7A8:NM_012244:exon4:c.C548A:p.A183D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.229488306318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	0.999	0.90584	D	0.993	0.84481	D	0.000000	0.84330	D	0.047261	1	0.81001	D	.	.	.	-2.69	0.90451	D	-4.51	0.78222	D	0.98	0.99015	0.984	0.96921	D	0.895	0.96515	D	10	0.93358636	0.92692	D	0.229488	0.88186	D	0.889	0.96799	0.78	0.90465	0.958641560465	0.95819	0.98668754098432	0.98661	0.740032899241	0.63203	0.786031365395	0.79840	T	0.958716	0.99454	D	0.48386	0.93828	D	0.457255	0.93750	D	0.996586493308438	0.89651	D	0.964304	0.87759	D	0.86718875	0.88640	0.8976682	0.94810	0.86718875	0.88642	0.8976682	0.94810	-12.588	0.90173	D	.	.	0.998	0.97663	P	.;.;.	.;.;.	5.504082	0.91614	32	0.99761876486497847	0.85091	0.98338	0.81774	D	AEFGBI	0.946184	0.95535	D	1.06433164613606	0.97415	16.08972	1.00845615009723	0.98783	19.36713	1.0	0.98316	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	5.75	0.90390	9.602000	0.97623	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.102	0.93259	882	0.29131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	113.83	34	chr14	23143165	.	G	T	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.81;DP=279;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.65;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,9:90:99:0|1:23143162_G_T:124,0,3374:23143162	5	0	1	0
chr14	50756886	50756886	G	C	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon18:c.C4144G:p.H1382D,NIN:NM_182944:exon18:c.C4144G:p.H1382D,NIN:NM_182946:exon18:c.C4144G:p.H1382D	.	9	1497	16	0	0	16	0.00531561	.	.	.	2091525	not_provided|NIN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.071	.	.	0.00698882	0.0110	0.0007	0.0037	0.0013	0	0	0.0047	0.0305	0.0024579	380	154602	rs546908598	0.0016	0.0017	0.0009	0.0024	0.0269	0.0016	0.0016	0.0259	0.0255	0	5.579e-05	0	2.787e-05	2.011e-05	0.0019	5.186e-05	0.0015	0.0269	0.0009	0.0009	0.0006	0.0012	0.0286	0.0008	0.0008	0.0248	0.0233	0	0	6.534e-05	0	0.0002	0	0	0	0.0005	0.0286	0.159	0.65419	T	0.542	0.15109	T	0.082	0.26577	B	0.058	0.26451	B	0.948615	0.07640	N	1.022000	1	0.08975	N	1.905	0.50856	L	3.5	0.06931	T	-2.14	0.64826	N	0.352	0.47301	-1.0079	0.27572	T	0.125	0.42987	T	10	0.0030695498	0.00051	T	.	.	.	0.071	0.20720	.	.	0.386395597597	0.38251	0.19714892489671657	0.19631	0.20977462565	0.23452	0.227173894644	0.01766	T	0.030069	0.21402	T	-0.493551	0.00622	T	-0.460779	0.26514	T	0.024850427341836	0.01253	T	0.805019	0.45286	T	0.14870267	0.33935	0.13659291	0.32672	0.11017169	0.26042	0.11440207	0.27614	-2.861	0.08759	T	.	.	0.111	0.21503	B	.;.;.;.	.;.;.;.	0.916396	0.12909	9.420	0.84300232834108746	0.15212	0.29613	0.23868	N	AEFGBCI	0.091808	0.18592	N	-0.336608419728441	0.27767	1.526117	-0.457149651979535	0.23346	1.272683	0.999968616000337	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	3.09	0.34677	1.315000	0.33214	3.218000	0.36838	0.676000	0.76740	0.002000	0.15269	0.354000	0.24487	0.010000	0.09038	0.2006:0.0:0.7994:0.0	8.700	0.33484	435	0.80441	.;.;.;.	.	.	.	.	.	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	0.004752	0.000000	0.001441	0.000000	0.000000	0.000000	0.000000	0.027344	0.08333	1391.83	33	chr14	50756886	.	G	C	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=269;ExcessHet=0;FS=3.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.811;SOR=0.443	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1402,0,1090	5	0	1	0
chr14	50901857	50901857	G	A	exonic	ABHD12B	.	nonsynonymous SNV	ABHD12B:NM_181814:exon8:c.G578A:p.R193H,ABHD12B:NM_181533:exon9:c.G488A:p.R163H,ABHD12B:NM_001206673:exon10:c.G809A:p.R270H	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00576809820441	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002264	35	154602	rs528682615	0.0001	0.0001	5.396e-05	0.0002	0.0018	9.83e-05	9.3e-05	0.0016	0.0015	3.108e-05	0	0	0	0	0	8.144e-06	0.0001	0.0018	7.904e-05	8.539e-05	3.865e-05	0.0001	0.0021	4.507e-05	3.52e-05	0.0011	0.0009	0	0	0	0	0	9.513e-05	0	1.472e-05	0	0.0021	0.455	0.08865	T	0.542	0.09690	T	0.011	0.20732	B	0.009	0.19653	B	0.462560	0.12373	N	0.762041	1	0.08975	N	1.895	0.50365	L	2.05	0.45248	T	-0.41	0.14978	N	0.084	0.06059	-1.0111	0.26573	T	0.040	0.17106	T	10	0.008230567	0.00187	T	0.005768	0.14982	T	0.028	0.06331	0.585	0.71245	0.163833314356	0.15978	0.6234428230642683	0.62277	0.0852180447712	0.09633	0.205771654844	0.00644	T	0.003298	0.02708	T	-0.578242	0.00198	T	-0.610644	0.11932	T	0.00895745783929578	0.00112	T	0.636736	0.26451	T	0.024280123	0.01244	0.029675461	0.01332	0.024280123	0.01243	0.029675461	0.01332	-4.539	0.33319	T	.	.	0.076	0.06159	B	.;.	.;.	1.324168	0.17287	13.07	0.67766861812829815	0.08454	0.04561	0.10203	N	AEFBI	0.058406	0.10956	N	-1.34876352078021	0.03138	0.1396852	-1.3541391797667	0.03757	0.1759315	0.109150710585066	0.16600	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.24	-2.2	0.06601	-0.333000	0.07938	-0.156000	0.11370	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.5129:0.0:0.3378:0.1493	5.076	0.13968	365	0.84644	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	272.83	45	chr14	50901857	.	G	A	272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=232;ExcessHet=0;FS=1.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.122;SOR=0.96	GT:AD:DP:GQ:PL	0/1:35,14:49:99:283,0,769	5	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:37,20:57:99:222,0,741	1	0	5	0
chr14	58487145	58487145	A	C	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244193:exon19:c.A2863C:p.K955Q,KIAA0586:NM_014749:exon21:c.A3055C:p.K1019Q,KIAA0586:NM_001244191:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001329943:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329944:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329945:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001329946:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329947:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001364700:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001364701:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001244190:exon23:c.A3238C:p.K1080Q,KIAA0586:NM_001244192:exon23:c.A3151C:p.K1051Q,KIAA0586:NM_001244189:exon24:c.A3442C:p.K1148Q	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	427	1082	13	0	0	13	0.00597152	.	.	.	429581	not_provided|Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly|KIAA0586-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0032	0.00439297	0.0023	0.0101	0.0013	0	0	0.0007	0.0022	0.0069	0.0019987	309	154602	rs140565291	0.0009	0.0009	0.0007	0.0012	0.0091	0.0009	0.0009	0.0083	0.0080	0.0091	0.0015	0.0019	5.04e-05	0	0.0040	0.0002	0.0016	0.0074	0.0034	0.0034	0.0032	0.0036	0.0100	0.0031	0.0030	0.0092	0.0089	0.0100	0	0.0017	0.0020	0	0	0	0.0003	0.0019	0.0081	0.153	0.29823	T	0.171	0.30339	T	0.194	0.29493	B	0.107	0.31211	B	0.123285	0.18924	N	0.547984	1	0.08975	N	2.25	0.63811	M	0.72	0.50976	T	-1.81	0.45042	N	0.208	0.23125	-1.0392	0.17556	T	0.096	0.36185	T	10	0.0059957504	0.00135	T	.	.	.	0.021	0.04004	.	.	0.225902525712	0.22197	0.1196008008462466	0.11887	0.0881719619469	0.09959	0.344280302525	0.17077	T	0.027943	0.43140	T	-0.541992	0.00326	T	-0.544062	0.17899	T	0.011756925480172	0.00181	T	0.774123	0.40598	T	0.058359217	0.11731	0.0374547	0.03401	0.051227033	0.09376	0.039019693	0.03900	-3.761	0.22092	T	0.5222751351253089	0.59436	0.123	0.26388	B	.;.;.;.;.;.	.;.;.;.;.;.	0.376937	0.07489	4.132	0.81928919189485072	0.13931	0.22691	0.21831	N	AEFBI	0.037618	0.05201	N	-0.730905057182507	0.15156	0.7614148	-0.786998738853719	0.14814	0.776008	0.60447148366141	0.21754	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.33	1.33	0.20958	0.599000	0.23788	1.104000	0.24096	-0.050000	0.17177	0.069000	0.22043	0.473000	0.25062	0.007000	0.07825	0.4944:0.4178:0.0878:0.0	6.393	0.20798	802	0.44336	.;.;.;.;.;.	.	.	.	.	.	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	0.003021	0.005051	0.000000	0.005848	0.000000	0.008621	0.000000	0.007576	0.08333	776.83	38	chr14	58487145	.	A	C	776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.105;DP=248;ExcessHet=0;FS=1.141;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.239;SOR=0.495	GT:AD:DP:GQ:PL	0/1:18,31:49:99:787,0,422	5	0	1	0
chr14	59932022	59932022	C	G	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon6:c.C526G:p.Q176E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0297966943791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.29	0.21011	T	.	.	.	.	.	.	.	.	.	.	0.949647	0.26530	N	.	.	.	0.47	0.56114	T	-0.83	0.22727	N	0.131	0.12627	.	.	.	.	.	.	.	0.18517718	0.33927	T	0.029797	0.52238	D	.	.	.	.	0.45746916685	0.45369	0.31310385813983677	0.31223	.	.	.	.	.	0.00219	0.01594	T	-0.15926	0.26873	T	-0.466542	0.25889	T	.	.	.	0.762924	0.38892	T	0.14076339	0.32464	0.17997512	0.40766	0.14076339	0.32463	0.17997512	0.40766	-6.004	0.46313	T	.	.	0.092	0.13503	B	.;.	.;.	3.173889	0.43051	21.7	0.97576812619139519	0.34714	0.78723	0.38883	D	AEFBI	0.306148	0.41338	N	.	.	.	.	.	.	6.61078416532104E-4	0.07551	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	4.72	0.59248	1.867000	0.39137	2.622000	0.33640	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1454:0.7141:0.1405:0.0	10.848	0.45956	506	0.75555	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	449.83	33	chr14	59932022	.	C	G	449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.756;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.656;SOR=0.69	GT:AD:DP:GQ:PL	0/1:46,23:69:99:460,0,1210	5	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	76.21	134	chr14	63599584	.	C	T	76.21	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.25;DP=660;ExcessHet=0.4139;FS=14.467;MLEAC=1;MLEAF=0.083;MQ=58.96;MQRankSum=-10.37;QD=0.27;ReadPosRankSum=-0.643;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,12:151:85:0|1:63599584_C_T:85,0,5768:63599584	4	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	157.07	136	chr14	63599585	.	T	G	157.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=787;ExcessHet=0.4139;FS=10.74;MLEAC=2;MLEAF=0.167;MQ=58.94;MQRankSum=-10.37;QD=0.55;ReadPosRankSum=-1.662;SOR=2.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,12:151:85:0|1:63599584_C_T:85,0,5768:63599584	4	0	2	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	360.03	184	chr14	63599753	.	G	A	360.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.25;DP=771;ExcessHet=1.383;FS=10.169;MLEAC=3;MLEAF=0.25;MQ=58.75;MQRankSum=-9.732;QD=0.76;ReadPosRankSum=-1.642;SOR=1.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,13:149:99:0|1:63599753_G_A:136,0,5666:63599753	3	0	3	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,21:69:99:.:.:157,0,930:.	1	0	5	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	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	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.08333	692.83	35	chr14	64468430	.	C	G	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=229;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.402;SOR=1.054	GT:AD:DP:GQ:PL	0/1:25,27:52:99:703,0,639	5	0	1	0
chr14	74511307	74511307	G	C	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon19:c.C2966G:p.P989R	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1483	37	2	0	41	0.0136349	.	.	.	702986	not_provided|Weill-Marchesani_syndrome|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.0011	0.00559105	0.0055	0.0002	0.0018	0.0002	0.0002	0.0021	0.0122	0.0300	0.0049094	759	154602	rs76172717	0.0034	0.0034	0.0026	0.0043	0.0294	0.0034	0.0033	0.0284	0.0280	0.0004	0.0028	0.0041	0.0001	7.497e-05	0.0111	0.0017	0.0039	0.0294	0.0025	0.0025	0.0018	0.0031	0.0232	0.0022	0.0022	0.0197	0.0184	0.0004	0	0.0059	0.0052	0.0004	9.411e-05	0.0170	0.0018	0.0028	0.0232	0.025	0.47320	D	0.03	0.54159	D	0.953	0.54283	P	0.895	0.63489	P	0.017802	0.27632	N	0.173155	0.744398	0.33858	D	1.955	0.52871	M	-2.9	0.91643	D	-6.92	0.93366	D	0.465	0.55799	0.416	0.89333	D	0.803	0.93326	D	10	0.010016173	0.00224	T	.	.	.	0.503	0.78538	.	.	0.859434438275	0.85807	0.5135926169408016	0.51281	0.565440799471	0.52883	0.484133929014	0.36627	T	0.783003	0.94289	D	-0.230146	0.16629	T	-0.0810524	0.64827	T	0.0762015710983203	0.09494	T	0.887511	0.62412	D	0.2485262	0.47839	0.26377156	0.52187	0.2298873	0.45733	0.26377156	0.52186	-9.346	0.69896	D	.	.	0.093	0.13923	B	.;.	.;.	4.090586	0.60914	24.3	0.99823361191097992	0.90590	0.68807	0.33942	D	AEFGBI	0.224743	0.34893	N	0.145442281603709	0.48597	3.069959	0.0987253262848525	0.44484	2.729357	0.999999962438133	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.36	4.47	0.53770	2.161000	0.41985	11.820000	0.97208	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.979000	0.57723	0.1594:0.0:0.8406:0.0	9.942	0.40754	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.000000	0.013587	0.020468	0.050000	0.000000	0.006098	0.026515	0.08333	928.83	35	chr14	74511307	.	G	C	928.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.903;DP=262;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.085;SOR=0.968	GT:AD:DP:GQ:PL	0/1:46,41:87:99:939,0,1294	5	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	321.03	129	chr14	78297852	.	G	A	321.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.202;DP=747;ExcessHet=1.383;FS=240.602;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.123;SOR=10.76	GT:AD:DP:GQ:PL	0/1:77,34:119:71:71,0,1496	3	0	3	0
chr14	94443168	94443168	G	T	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon4:c.C975A:p.D325E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0457898341786	.	.	8.249e-06	0	0	0	0	0	0	6.088e-05	6.5e-06	1	154602	rs776006390	6.157e-06	6.156e-06	1.361e-06	1.1e-05	6.957e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	2.698e-06	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.006	0.12133	B	0.075787	0.21202	N	0.434725	0.999998	0.08975	N	-1.245	0.00777	N	-2.23	0.87116	D	0.07	0.06138	N	0.107	0.09207	-0.8704	0.50499	T	0.237	0.60403	T	10	0.026727498	0.00833	T	0.04579	0.62147	D	0.179	0.44899	0.37	0.38013	0.457197642564	0.45345	0.22354304039047163	0.22269	0.0508364684559	0.05582	0.306249260902	0.11340	T	0.023728	0.18060	T	-0.349487	0.04760	T	-0.53619	0.18673	T	0.0185210283293497	0.00568	T	0.462454	0.13421	T	0.0433722	0.06748	0.03328159	0.02197	0.0433722	0.06748	0.03328159	0.02197	-4.046	0.24489	T	.	.	0.082	0.08899	B	.	.	0.208866	0.05926	2.367	0.58398587305192262	0.05984	0.02866	0.07635	N	AEFBI	0.120974	0.23541	N	-1.21596124197101	0.04768	0.2159001	-1.08616054124411	0.07972	0.389981	0.73329070860141	0.23087	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	0.132	0.14061	-1.173000	0.03217	-0.040000	0.12681	-0.179000	0.10443	0.000000	0.06391	0.174000	0.23367	0.469000	0.28319	0.1038:0.4175:0.2166:0.2621	2.805	0.05092	895	0.25842	Serpin domain|Serpin 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	0	0	.	.	.	.	.	.	.	.	0.08333	459.83	48	chr14	94443168	.	G	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.45;DP=226;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.46;SOR=0.307	GT:AD:DP:GQ:PL	0/1:22,18:40:99:470,0,627	5	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1167.3	85	chr14	94497802	.	C	T	1167.3	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.282;DP=483;ExcessHet=3.1439;FS=349.365;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.071;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,22:76:99:0|1:94497802_C_T:284,0,1577:94497802	0	0	4	2
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R,SERPINA12:NM_001382267:exon2:c.G595C:p.G199R,SERPINA12:NM_173850:exon3:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	434.32	85	chr14	94497803	.	C	G	434.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.911;DP=482;ExcessHet=0.4139;FS=136.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.123;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,22:76:99:0|1:94497802_C_T:284,0,1577:94497802	5	0	1	0
chr14	104594306	104594306	C	G	exonic	TMEM179	.	nonsynonymous SNV	TMEM179:NM_001286390:exon4:c.G612C:p.K204N	.	511	1007	4	0	0	4	0.00198216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs61745821	0.0009	0.0007	0.0009	0.0009	0.0124	0.0008	0.0008	0.0092	0.0081	0.0006	0.0002	0.0191	0	0	0.0124	0.0006	0.0022	0.0010	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0007	0.0005	0.0005	0.0002	0	0.0005	0.0176	0	0	0.0205	0.0007	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.0077750683	0.00177	T	.	.	.	.	.	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	.	.	.	-0.737734	0.00021	T	-0.906594	0.00457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.46505	B	.	.	0.765788	0.11358	7.973	0.47864348023927489	0.03948	0.01051	0.03915	N	AEFDBI	.	.	.	.	.	.	.	.	.	6.97415211356231E-4	0.07645	0.055982	0.00716	0	0.059962	0.00310	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0498113	0.09340	2.49	-0.616	0.11002	0.364000	0.20053	-1.724000	0.04844	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4834:0.2281:0.2885	3.142	0.06072	862	0.33134	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1162.83	41	chr14	104594306	.	C	G	1162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.667;DP=310;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.551;SOR=0.58	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1173,0,1464	5	0	1	0
chr14	104709620	104709620	A	G	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon12:c.A2053G:p.I685V,INF2:NM_022489:exon12:c.A2053G:p.I685V	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	0	1505	16	1	0	18	0.00594452	0	0.008	.	320228	Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.013117265279	8.3e-05	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0002	0.0001682	26	154602	rs199526439	0.0003	0.0003	0.0002	0.0003	0.0120	0.0002	0.0002	0.0097	0.0089	0.0006	0.0002	0.0001	0	0	0.0120	0.0002	0.0007	0.0004	0.0002	0.0002	0.0002	0.0003	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0.0238	0.0002	0.0005	0.0004	0.325	0.14694	T	0.16	0.31427	T	0.047	0.22967	B	0.02	0.22546	B	0.000091	0.51296	U	0.127551	0.914351	0.36497	D	0.835	0.21042	L	2.35	0.16217	T	-0.52	0.19933	N	0.125	0.11769	-1.0284	0.20973	T	0.027	0.11707	T	9	0.04631102	0.03807	T	0.013117	0.32271	T	0.025	0.05312	.	.	0.193917141947	0.19028	0.2804306880011572	0.27956	0.206038772455	0.23027	0.381326824427	0.22445	T	0.031427	0.22039	T	-0.497721	0.00589	T	-0.655159	0.08596	T	0.00993273182115023	0.00132	T	0.754325	0.43953	T	0.02905946	0.02339	0.029722253	0.01343	0.02905946	0.02339	0.029722253	0.01343	-5.963	0.45969	T	0.3326147830562283	0.43060	0.080	0.11124	B	.;.;.	.;.;.	0.963761	0.13404	9.911	0.51470064624187606	0.04569	0.83380	0.42501	D	AEFDBCI	0.239344	0.36132	N	-0.60452852861894	0.18807	0.9794055	-0.586645354771787	0.19841	1.066342	0.999586847085766	0.40607	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.17	1.79	0.23992	0.701000	0.25293	2.078000	0.30479	0.756000	0.94297	0.219000	0.24524	0.995000	0.32472	0.724000	0.34901	0.707:0.0:0.293:0.0	6.511	0.21419	957	0.09725	.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	1	0	0	0	0.011581	0.010101	0.017663	0.023392	0.000000	0.008621	0.000000	0.000000	0.08333	497.83	34	chr14	104709620	.	A	G	497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.335;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,20:48:99:508,0,760	5	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.75	3065.37	1	chr15	22081297	.	T	C	3065.37	.	AC=6;AF=0.75;AN=8;BaseQRankSum=4.73;DP=636;ExcessHet=0.2119;FS=43.298;MLEAC=7;MLEAF=0.875;MQ=47.14;MQRankSum=-7.298;QD=7.44;ReadPosRankSum=-0.342;SOR=2.907	GT:AD:DP:GQ:PL	0/1:142,25:167:99:306,0,4186	0	2	2	2
chr15	22495611	22495611	A	C	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.507e-06	6.674e-06	3.267e-06	1.111e-05	1.237e-05	2.2e-06	1.6e-06	4.62e-06	2.63e-06	0	0	0	0	0	0	1.237e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	128.29	20	chr15	22495611	.	A	C	128.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.501;DP=64;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=23.91;MQRankSum=-0.465;QD=12.83;ReadPosRankSum=0.21;SOR=0.223	GT:AD:DP:GQ:PL	0/1:3,7:10:57:138,0,57	5	0	1	0
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	75.77	20	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	75.77	.	AC=2;AF=0.2;AN=10;DP=61;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.1;QD=33.6;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:23327342_GTATCTTCTCCTCCTGCTCCCT_G:90,6,0:23327342	4	1	0	1
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.5	95	chr15	23361385	.	C	*	468.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.948;DP=430;ExcessHet=3.1439;FS=1.576;MLEAC=3;MLEAF=0.25;MQ=57.4;MQRankSum=0.836;QD=1.43;ReadPosRankSum=2.96;SOR=0.688	GT:AD:DP:GQ:PL	0/1:81,26:107:99:830,0,3227	3	0	3	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:1,60:110:99:4066,1693,2020	1	0	5	0
chr15	23647105	23647134	GGAGGATGAGCCATCGGTGTCCCCGGAGGG	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.609_638del:p.H221_A230del	Schaaf-Yang syndrome, Autosomal dominant	2	1505	6	0	9	15	0.00198939	.	.	.	2092358	Inborn_genetic_diseases|Schaaf-Yang_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs758291032	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0002	0.0013	0.0010	0.0004	0.0005	0.0010	0.0004	0	0.0023	0.0002	0.0007	0.0008	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0005	0.0006	0.0005	0.0008	0	0.0010	0.0026	0.0011	0	0.0055	0.0005	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	480.79	35	chr15	23647104	.	TGGAGGATGAGCCATCGGTGTCCCCGGAGGG	T	480.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.72;MQRankSum=-1.212;QD=12.33;ReadPosRankSum=1.7;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,15:39:99:0|1:23647104_TGGAGGATGAGCCATCGGTGTCCCCGGAGGG_T:491,0,822:23647104	5	0	1	0
chr15	32158451	32158451	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon7:c.G638A:p.C213Y,CHRNA7:NM_001190455:exon7:c.G725A:p.C242Y	Schizophrenia, neurophysiologic defect in	1	1513	8	0	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.14326958586	.	0.000199681	0.0002	0	0.0003	0	0	7.492e-05	0.0011	0.0012	3.84e-05	1	26028	rs200236230	0.0001	0.0002	9.258e-05	0.0002	0.0016	0.0001	0.0001	0.0011	0.0011	0	0.0002	0	0	0	0.0016	4.677e-05	0.0002	0.0013	4.599e-05	7.873e-05	5.141e-05	4.032e-05	0.0004	2.109e-05	1.527e-05	7.321e-05	3.04e-05	0	0	6.539e-05	0	0.0002	0	0.0034	2.94e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	-1.15	0.77964	T	-10.19	0.99014	D	0.969	0.97961	0.632	0.92312	D	0.706	0.89878	D	10	0.7818934	0.77923	D	0.14327	0.82560	D	0.907	0.97474	0.838	0.94479	0.884513965206	0.88337	0.9384024244952771	0.93821	.	.	0.871368587017	0.92764	D	0.885243	0.97625	D	0.129267	0.67290	D	0.377529	0.91345	D	0.453825771056193	0.30938	T	0.911409	0.68582	D	0.96451247	0.97731	0.93054396	0.97132	0.96451247	0.97731	0.93054396	0.97133	-19.038	0.99825	D	.	.	0.992	0.97755	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.702837	0.93125	33	0.99790057126457987	0.87572	0.98666	0.85331	D	AEFGI	0.935151	0.92957	D	0.945991301625209	0.93824	12.303	0.850334316163072	0.93036	11.784	0.999875949705081	0.44625	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.51	4.51	0.54589	9.478000	0.96869	11.732000	0.95017	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.112	0.72042	963	0.08280	Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	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	0	0	0.002680	0.000000	0.001366	0.004132	0.000000	0.008621	0.000000	0.003817	0.08333	816.83	46	chr15	32158451	.	G	A	816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=492;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.083;MQ=39.4;MQRankSum=-2.533;QD=3.22;ReadPosRankSum=0.929;SOR=0.798	GT:AD:DP:GQ:PL	0/1:198,56:254:99:827,0,4773	5	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1724.01	37	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	1724.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.24;DP=364;ExcessHet=0.4139;FS=9.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.468;SOR=0.741	GT:AD:DP:GQ:PL	0/1:69,26:95:99:875,0,2792	5	0	1	0
chr15	42087702	42087702	T	-	splicing	PLA2G4D	NM_178034:exon2:c.46-2A>-	.	.	.	414	1078	28	2	0	32	0.0146252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00259585	0.0039	0.0011	0.0020	0	0.0005	0.0052	0.0079	0.0052	0.0004786	74	154602	rs561132236	0.0043	0.0043	0.0042	0.0045	0.0144	0.0043	0.0042	0.0119	0.0110	0.0009	0.0030	0.0096	0	0.0007	0.0144	0.0045	0.0048	0.0058	0.0039	0.0039	0.0037	0.0042	0.0086	0.0037	0.0036	0.0074	0.0069	0.0008	0	0.0086	0.0084	0.0002	0.0008	0.0102	0.0051	0.0095	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	546.79	37	chr15	42087701	.	CT	C	546.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.622;DP=217;ExcessHet=0;FS=2.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.927;SOR=1.371	GT:AD:DP:GQ:PL	0/1:24,17:41:99:557,0,822	5	0	1	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	175.24	35	chr15	42417393	.	G	C	175.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.728;DP=234;ExcessHet=0.4139;FS=92.815;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.972;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,10:31:99:0|1:42417393_G_C:103,0,484:42417393	4	0	1	1
chr15	43600906	43600906	C	G	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon25:c.G4810C:p.E1604Q	Deafness, autosomal recessive 16, Autosomal recessive	8	1496	16	2	0	20	0.00664011	.	.	.	2367230	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.173338599262	7.7e-05	.	0.0002	0.0001	0.0002	0	0	0.0002	0.0011	0.0007	0.0001876	29	154602	rs193034976	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0003	0	5.039e-05	0	0.0047	7.645e-05	0.0005	0.0009	8.61e-05	8.542e-05	7.759e-05	9.504e-05	0.0004	4.995e-05	3.992e-05	8.923e-05	5.417e-05	4.893e-05	0	0.0003	0	0	0	0	7.374e-05	0	0.0004	0.067	0.35918	T	0.057	0.46406	T	0.844	0.62325	P	0.528	0.59919	P	0.106447	0.19614	N	0.475055	1	0.81001	D	.	.	.	-1.17	0.78199	T	-0.83	0.22944	N	0.387	0.45047	-0.4511	0.70364	T	0.397	0.74951	T	10	0.23735124	0.40835	T	0.173339	0.85006	D	0.206	0.49396	.	.	0.795319321131	0.79341	0.19506635889689938	0.19424	.	.	0.584268093109	0.50686	T	0.05702	0.30451	T	-0.30102	0.08563	T	-0.302578	0.44452	T	0.071591013011756	0.08873	T	0.805819	0.45382	T	0.16722868	0.37107	0.0865275	0.20051	0.16722868	0.37107	0.0865275	0.20051	-4.418	0.29800	T	0.5105695755445007	0.58438	0.131	0.28232	B	.;.	.;.	4.552980	0.71668	25.7	0.9975587966031535	0.84615	0.78800	0.38933	D	AEFGBI	0.624919	0.60831	D	0.227568560519406	0.52539	3.42742	0.27058083464517	0.53828	3.550048	0.0116965623771096	0.12222	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	3.485000	0.52972	5.831000	0.50164	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.856	0.69972	10	0.99061	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	885.83	69	chr15	43600906	.	C	G	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.239;DP=407;ExcessHet=0;FS=4.138;MLEAC=1;MLEAF=0.083;MQ=54.68;MQRankSum=-1.119;QD=9.84;ReadPosRankSum=0.952;SOR=0.368	GT:AD:DP:GQ:PL	0/1:53,37:90:99:896,0,1495	5	0	1	0
chr15	51474379	51474379	A	G	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon25:c.T5156C:p.V1719A,DMXL2:NM_001174117:exon26:c.T5267C:p.V1756A,DMXL2:NM_001378464:exon27:c.T6935C:p.V2312A,DMXL2:NM_001174116:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378457:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378458:exon28:c.T7175C:p.V2392A,DMXL2:NM_001378459:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378461:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378462:exon28:c.T7175C:p.V2392A,DMXL2:NM_001378463:exon28:c.T7178C:p.V2393A,DMXL2:NM_015263:exon28:c.T7175C:p.V2392A	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00486516474695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.17126	T	0.299	0.20422	T	0.006	0.13644	B	0.014	0.16862	B	0.000025	0.55875	D	0.118665	0.996119	0.43025	D	0.95	0.23787	L	2.04	0.23486	T	-1.43	0.36980	N	0.577	0.59901	-1.1171	0.02524	T	0.055	0.23072	T	10	0.23746762	0.40848	T	0.004865	0.12192	T	0.109	0.30843	0.312	0.28612	0.043077524339	0.03247	0.3168735961979606	0.31600	0.282826410038	0.30739	0.430783361197	0.29316	T	0.025889	0.19267	T	-0.116802	0.33647	T	-0.405554	0.32739	T	0.808065712451935	0.46911	D	0.915108	0.69728	D	0.14230023	0.32754	0.17005937	0.39087	0.14230023	0.32754	0.17005937	0.39087	-3.225	0.12976	T	.	.	0.191	0.41063	B	.;.;.	.;.;.	3.836860	0.55501	23.6	0.97854621322084234	0.36418	0.99768	0.99325	D	AEFBI	0.933126	0.92452	D	0.092942856613802	0.46134	2.85854	0.285323083012815	0.54680	3.632439	0.999995993195496	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	8.947000	0.92735	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.520	0.75592	502	0.75873	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	465.83	42	chr15	51474379	.	A	G	465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=217;ExcessHet=0;FS=1.472;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-2.112;SOR=1.154	GT:AD:DP:GQ:PL	0/1:25,16:41:99:476,0,673	5	0	1	0
chr15	59618702	59618702	C	G	exonic	GCNT3	.	nonsynonymous SNV	GCNT3:NM_004751:exon3:c.C464G:p.A155G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0114648947771	.	.	8.24e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749201782	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.139	0.33666	T	0.958	0.54977	D	0.657	0.52725	P	0.000249	0.46924	D	0.223513	0.997945	0.44345	D	3.14	0.88230	M	2.78	0.11298	T	-2.13	0.48354	N	0.418	0.45803	-1.0990	0.04214	T	0.051	0.21883	T	10	0.36899155	0.53326	T	0.011465	0.29107	T	0.161	0.41658	0.612	0.74535	0.430351802785	0.42654	0.4832345367188522	0.48243	.	.	0.284675449133	0.08153	T	0.240892	0.60930	T	-0.162218	0.26420	T	-0.470791	0.25432	T	0.915435016155243	0.57246	D	0.777622	0.41060	T	0.5749586	0.71333	0.6555911	0.79835	0.5749586	0.71334	0.6555911	0.79836	-9.349	0.69915	D	.	.	0.192	0.41187	B	.;.	.;.	2.927041	0.38873	20.8	0.99673456959630102	0.78717	0.69797	0.34331	D	AEFDGBI	0.599560	0.59253	D	0.126900675035129	0.47720	2.993818	0.0503265112384819	0.42088	2.53963	0.999999973198649	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.16	3.06	0.34374	1.770000	0.38162	1.366000	0.25918	0.599000	0.40250	0.014000	0.18986	0.718000	0.26334	0.857000	0.40602	0.0:0.7907:0.0:0.2093	11.114	0.47469	897	0.25382	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr15	59618702	.	C	G	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.951;DP=298;ExcessHet=0;FS=4.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.937;SOR=0.91	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1472,0,1418	5	0	1	0
chr15	63305632	63305632	T	C	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon5:c.T502C:p.Y168H,APH1B:NM_031301:exon6:c.T625C:p.Y209H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0200730242816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.50132	D	0.006	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.83	0.82355	M	0.95	0.43279	T	-4.24	0.76015	D	0.253	0.35620	-0.5600	0.66404	T	0.269	0.64034	T	10	0.96512383	0.95980	D	0.020073	0.42586	T	0.487	0.77528	0.936	0.99075	0.676123130162	0.67337	0.6530591540569206	0.65241	0.13876508777	0.15646	0.488448679447	0.37223	T	0.325541	0.82333	T	0.0552157	0.59011	T	-0.158463	0.58490	T	0.995865106582642	0.88213	D	0.680832	0.28956	T	0.39659306	0.60496	0.31133705	0.57141	0.39659306	0.60496	0.31133705	0.57140	-4.845	0.35111	T	.	.	0.094	0.35077	B	.;.;.	.;.;.	3.947184	0.57797	23.9	0.99563025871799471	0.71892	0.93651	0.58804	D	AEFBI	0.440070	0.49879	N	0.390602554580698	0.60913	4.285611	0.243592602924973	0.52284	3.404435	0.999999957157898	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	4.793000	0.62168	3.423000	0.38265	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.0:0.0:1.0	11.236	0.48168	749	0.51929	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	523.83	33	chr15	63305632	.	T	C	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.772;DP=218;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.25;SOR=1.329	GT:AD:DP:GQ:PL	0/1:22,22:44:99:534,0,488	5	0	1	0
chr15	65076532	65076532	G	A	exonic	RASL12	.	stopgain	RASL12:NM_001379429:exon1:c.C67T:p.R23X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs762030544	4.017e-05	3.466e-05	3.183e-05	4.723e-05	0.0002	2.628e-05	2.244e-05	0.0001	8.719e-05	0	2.916e-05	0	0	0	0	1.266e-05	0.0002	0.0002	3.942e-05	3.94e-05	0	8.071e-05	0.0002	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0.0002	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0769416	0.61681	D	0.0710619	0.74980	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.217587	0.97308	37	0.99539310489757027	0.70398	0.06249	0.12239	N	AEFBIJ	0.049015	0.08423	N	-0.47389133572303	0.22938	1.228344	-0.646623630063832	0.18302	0.9770904	0.0167346138333663	0.12866	0.59774	0.34471	0	0.547309	0.14657	0	0.514364	0.09456	0	0.63947	0.58350	0	.	.	.	.	.	0.798000	0.26674	0.097000	0.14596	0.098000	0.17617	0.995000	0.38783	0.291000	0.24165	0.447000	0.27828	.	.	.	315	0.87208	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	334.83	34	chr15	65076532	.	G	A	334.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-1.685;SOR=0.674	GT:AD:DP:GQ:PL	0/1:25,14:39:99:345,0,633	5	0	1	0
chr15	71771124	71771129	ATGACT	-	exonic	THSD4	.	nonframeshift deletion	THSD4:NM_001286429:exon11:c.1750_1755del:p.M584_T585del,THSD4:NM_024817:exon16:c.2830_2835del:p.M944_T945del	.	428	1091	3	0	0	3	0.001373	.	.	.	2476596	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0020	0.0007	0.0027	0	0.0006	0.0029	0.0011	6.056e-05	0.0003842	10	26028	rs577772364	0.0024	0.0024	0.0024	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0004	0.0024	0.0041	0	0.0004	0.0014	0.0028	0.0020	9.275e-05	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0028	0.0027	0.0006	0	0.0026	0.0032	0	9.427e-05	0	0.0031	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1148.79	35	chr15	71771123	.	CATGACT	C	1148.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.259;SOR=0.73	GT:AD:DP:GQ:PL	0/1:38,32:70:99:1159,0,1494	5	0	1	0
chr15	72666280	72666280	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon18:c.C2020T:p.P674S	.	376	1136	9	1	0	11	0.00481822	.	.	.	2814296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0010	0.00179712	0.0021	0.0013	0.0070	0	0.0004	0.0022	0.0058	0.0007	0.0005763	15	26028	rs200621607	0.0019	0.0019	0.0019	0.0019	0.0048	0.0018	0.0018	0.0039	0.0037	0.0004	0.0044	0.0015	2.547e-05	0.0002	0.0048	0.0020	0.0023	0.0006	0.0015	0.0016	0.0014	0.0016	0.0050	0.0013	0.0013	0.0041	0.0037	0.0005	0	0.0050	0.0006	0	0	0	0.0018	0.0035	0.0002	0.66	0.04699	T	0.076	0.42614	T	0.859	0.47319	P	0.744	0.55835	P	.	.	.	.	1	0.08975	N	2.57	0.75187	M	1.91	0.23283	T	-4.47	0.77881	D	0.129	0.12341	-1.0001	0.29888	T	0.098	0.36728	T	9	0.0058475137	0.00131	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.10641298346349394	0.10571	.	.	0.296045929193	0.09813	T	0.039579	0.25236	T	-0.631578	0.00093	T	-0.679591	0.07008	T	0.049693697766378	0.05446	T	0.711729	0.32279	T	0.058731303	0.11850	0.11965609	0.28880	0.058731303	0.11850	0.11965609	0.28880	-3.378	0.14762	T	.	.	0.101	0.17488	B	.	.	0.582757	0.09512	6.289	0.97782818453179132	0.35944	0.00528	0.02449	N	AEFI	0.023757	0.01370	N	-0.547848073690352	0.20551	1.084207	-0.881336682063675	0.12537	0.6454333	9.96221243378444E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	1.650000	0.36908	-2.209000	0.04054	0.298000	0.18894	0.258000	0.24929	0.000000	0.08366	0.002000	0.04165	0.0:0.3356:0.3437:0.3207	2.155	0.03576	431	0.80762	.	.	.	.	.	.	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	1	0	0.005895	0.000000	0.006812	0.004167	0.050000	0.008621	0.006250	0.007752	0.08333	372.83	39	chr15	72666280	.	C	T	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.5;MQRankSum=0.918;QD=7.77;ReadPosRankSum=0.227;SOR=0.752	GT:AD:DP:GQ:PL	0/1:31,17:48:99:383,0,733	5	0	1	0
chr15	75211058	75211058	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon3:c.G3086A:p.R1029K	.	414	1060	46	2	0	50	0.0230415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0039	0.00698882	0.0070	0.0029	0.0024	0.0083	0.0011	0.0061	0.0114	0.0178	0.0062742	970	154602	rs149175372	0.0053	0.0053	0.0049	0.0057	0.0155	0.0052	0.0052	0.0148	0.0145	0.0031	0.0025	0.0374	0.0140	0.0013	0.0148	0.0035	0.0090	0.0155	0.0049	0.0049	0.0048	0.0050	0.0133	0.0046	0.0045	0.0107	0.0097	0.0030	0	0.0044	0.0317	0.0087	0.0010	0.0476	0.0039	0.0203	0.0133	0.229	0.18371	T	0.103	0.38305	T	0.782	0.44333	P	0.309	0.41361	B	0.177696	0.17190	N	0.492645	1	0.27708	N	0	0.06538	N	2.31	0.16794	T	-0.28	0.11547	N	0.093	0.07262	-1.0571	0.12491	T	0.015	0.06234	T	10	0.0023316443	0.00034	T	.	.	.	0.030	0.07022	.	.	0.123314135267	0.11883	0.2174115423798215	0.21657	0.389086492998	0.40161	.	.	.	1.73E-4	0.00028	T	-0.641493	0.00082	T	-0.680611	0.06946	T	0.0068233635844981	0.00077	T	0.585341	0.21331	T	0.117705666	0.27745	0.09711565	0.23102	0.117705666	0.27744	0.09711565	0.23101	-4.093	0.25187	T	.	.	0.101	0.17742	B	.;.	.;.	2.510164	0.32421	19.04	0.98633525383095277	0.43947	0.21679	0.21486	N	AEFGBHCI	0.107958	0.21493	N	-0.569397808336719	0.19879	1.043867	-0.614254087800542	0.19127	1.024856	0.999999795639644	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.24	3.29	0.36801	1.812000	0.38590	5.183000	0.47871	0.654000	0.53741	0.104000	0.22875	1.000000	0.68203	0.485000	0.28678	0.0:0.2055:0.7945:0.0	10.021	0.41216	422	0.81333	.;.	.	.	.	.	.	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	0.013595	0.015152	0.014946	0.011696	0.000000	0.008621	0.015244	0.018939	0.08333	940.83	37	chr15	75211058	.	G	A	940.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.849;DP=256;ExcessHet=0;FS=3.694;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.182;SOR=1.292	GT:AD:DP:GQ:PL	0/1:27,34:61:99:951,0,690	5	0	1	0
chr15	79463241	79463241	C	T	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon3:c.C2473T:p.R825W	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.167036482788	0.0029	0.00139776	0.0019	0.0010	0.0004	0	0.0006	0.0029	0.0022	0.0005	0.0019211	297	154602	rs61746211	0.0030	0.0030	0.0030	0.0029	0.0037	0.0029	0.0028	0.0036	0.0035	0.0004	0.0007	0	0.0001	0.0004	0.0019	0.0037	0.0023	0.0003	0.0021	0.0021	0.0021	0.0021	0.0034	0.0019	0.0018	0.0030	0.0029	0.0007	0.0033	0.0033	0	0	0.0003	0	0.0034	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.59	0.53943	T	-6.36	0.91017	D	0.772	0.76946	-0.6645	0.62077	T	0.228	0.59334	T	9	0.031874537	0.01328	T	0.167036	0.84551	D	0.465	0.76089	.	.	0.292423486923	0.28857	0.6384187266458748	0.63775	0.396251822541	0.40742	0.724040865898	0.70636	T	.	.	.	-0.143353	0.29358	T	0.0204684	0.71660	D	0.0514842322984893	0.05758	T	0.954605	0.82717	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	3.889968	0.56592	23.8	0.99701670728480363	0.80660	0.79781	0.39602	D	AEFDBHCI	0.761398	0.69912	D	-0.051780452715395	0.39522	2.332093	-0.0925992323301375	0.35695	2.068183	0.970594554542202	0.29219	0.65861	0.49226	0	0.588015	0.36545	0	0.725225	0.93170	0	0.620846	0.47308	0	.	.	5.19	4.27	0.50009	4.245000	0.58529	3.190000	0.36699	-0.829000	0.02890	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.1239:0.8761:0.0:0.0	17.970	0.89030	951	0.11083	.	.	.	.	.	.	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	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1582.83	36	chr15	79463241	.	C	T	1582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-1.428;SOR=0.754	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1593,0,981	5	0	1	0
chr15	81299821	81299823	CCT	-	exonic	IL16	.	nonframeshift deletion	IL16:NM_004513:exon2:c.392_394del:p.S137del,IL16:NM_001172128:exon14:c.2495_2497del:p.S838del,IL16:NM_001352686:exon14:c.2648_2650del:p.S889del,IL16:NM_172217:exon14:c.2495_2497del:p.S838del,IL16:NM_001352684:exon15:c.665_667del:p.S228del,IL16:NM_001352685:exon15:c.1985_1987del:p.S668del	.	33	1482	3	0	4	7	0.00101112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0119	.	0.0038	0.0035	0.0032	0.0021	0.0009	0.0035	0.0011	0.0078	0.0029301	453	154602	rs562825970	0.0008	0.0033	0.0007	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	9.03e-05	0.0051	0	0.0005	0.0002	0.0007	0.0011	0.0015	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0022	0.0018	0.0002	0	6.544e-05	0.0043	0	9.459e-05	0	0.0008	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018630	0.000000	0.020380	0.014620	0.000000	0.034483	0.012195	0.034091	0.08333	1742.79	41	chr15	81299820	.	GCCT	G	1742.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.218;DP=297;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.319;SOR=0.831	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1753,0,2001	5	0	1	0
chr15	84512150	84512150	G	A	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1373962524	0.0006	0.0013	0.0005	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0013	0.0004	0.0004	0.0006	3.343e-05	0.0005	0.0004	0.0008	0.0016	0.0014	0.0018	0.0012	0.0016	0.0038	0.0012	0.0011	0.0030	0.0028	0.0038	0	0.0005	0.0014	0.0014	0	0	0.0004	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	187.84	24	chr15	84512150	.	G	A	187.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=99;ExcessHet=0;FS=3.854;MLEAC=1;MLEAF=0.083;MQ=34.01;MQRankSum=1.24;QD=11.05;ReadPosRankSum=-1.123;SOR=0.096	GT:AD:DP:GQ:PL	0/1:10,7:17:99:198,0,247	5	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4264.94	39	chr15	89776903	.	AGGGCAGGGGCAG	*	4264.94	.	AC=6;AF=0.5;AN=12;DP=215;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,11:24:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1045,546,508:89776889	2	2	2	0
chr15	89806274	89806274	T	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.A310C:p.K104Q,ANPEP:NM_001150:exon2:c.A310C:p.K104Q,ANPEP:NM_001381923:exon2:c.A310C:p.K104Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00433035184597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05183	T	0.685	0.06014	T	0.002	0.09854	B	0.009	0.14300	B	0.154332	0.02988	N	1.686570	1	0.08975	N	-0.535	0.02521	N	4.17	0.02767	T	-0.19	0.09965	N	0.056	0.02759	-0.9242	0.44971	T	0.006	0.02018	T	10	0.13873816	0.26384	T	0.00433	0.10529	T	0.006	0.00375	0.514	0.61307	0.242244723065	0.23846	0.5533401327356962	0.55260	0.273113222108	0.29815	0.242199838161	0.02991	T	0.136364	0.46869	T	-0.397501	0.02404	T	-0.808759	0.01693	T	0.0578614324331284	0.06828	T	0.630737	0.24588	T	0.2899558	0.51988	0.065843835	0.13404	0.2899558	0.51988	0.065843835	0.13403	-4.039	0.24385	T	.	.	0.086	0.10835	B	.	.	-0.400611	0.02210	0.221	0.52225883996111888	0.04708	0.20941	0.21224	N	AEFDGBCI	0.351420	0.44453	N	-1.60236304902423	0.01253	0.05450213	-1.69340977965447	0.01167	0.0524944	0.999999973383802	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.94	-7.4	0.01252	-1.389000	0.02636	-8.021000	0.01043	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1065:0.1983:0.4339:0.2613	3.301	0.06573	448	0.79501	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	65.83	39	chr15	89806274	.	T	G	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.453;DP=322;ExcessHet=0;FS=57.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.643;SOR=5.993	GT:AD:DP:GQ:PL	0/1:52,19:71:76:76,0,1180	5	0	1	0
chr15	101642618	101642618	T	C	exonic	TM2D3	.	nonsynonymous SNV	TM2D3:NM_025141:exon5:c.A527G:p.D176G,TM2D3:NM_078474:exon6:c.A605G:p.D202G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.0229517141497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	.	.	.	-6.71	0.92518	D	0.932	0.95021	-0.2176	0.77215	T	0.390	0.74445	T	9	0.935084	0.92840	D	0.022952	0.45881	T	0.739	0.90939	0.863	0.95940	0.16115917748	0.15686	0.9638469720786492	0.96371	0.463450813185	0.45851	0.87603366375	0.93419	D	0.294513	0.66720	T	0.449468	0.92459	D	0.407853	0.92366	D	0.998668789863586	0.94798	D	0.997504	0.98978	D	0.9096961	0.92266	0.8214364	0.89631	0.9096961	0.92267	0.8214364	0.89631	-11.356	0.81574	D	.	.	0.997	0.97084	P	.;.;.	.;.;.	5.457139	0.91119	32	0.99858863152920496	0.93729	0.97495	0.75119	D	AEFDGBHIJ	0.919251	0.88950	D	0.755815245447654	0.83283	7.977087	0.732754355254825	0.84865	8.412721	0.999999999999781	0.74766	0.75658	0.98901	0	0.698795	0.70079	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.34	5.34	0.75982	7.812000	0.84643	7.859000	0.71346	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.559	0.61239	940	0.13648	.;TM2 domain;TM2 domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1226.83	34	chr15	101642618	.	T	C	1226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=262;ExcessHet=0;FS=4.518;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.688;SOR=0.349	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1237,0,1127	5	0	1	0
chr16	503035	503035	G	A	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001142272:exon5:c.G403A:p.E135K,RAB11FIP3:NM_014700:exon7:c.G1333A:p.E445K,RAB11FIP3:NM_001370401:exon8:c.G1468A:p.E490K	.	371	1149	2	0	0	2	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.00740918990839	0.0003	0.000199681	0.0002	9.718e-05	0.0002	0	0	0.0003	0.0011	0.0002	0.0001876	29	154602	rs143162766	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	2.988e-05	0.0001	0	0	0	0.0031	0.0001	0.0002	0.0005	8.536e-05	9.186e-05	7.709e-05	9.4e-05	0.0002	4.954e-05	3.96e-05	9.049e-05	7.013e-05	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.143	0.41915	T	0.209	0.45110	T	0.956	0.54666	P	0.275	0.40079	B	.	.	.	.	0.982724	0.39926	D	2.075	0.57047	M	.	.	.	-1.71	0.51646	N	0.26	0.30914	-0.7760	0.56526	T	0.227	0.59196	T	8	0.117593735	0.22213	T	0.007409	0.19657	T	0.222	0.51872	.	.	0.228066490088	0.22430	0.2647456587708972	0.26387	0.423747058533	0.42824	0.532874643803	0.43439	T	0.031667	0.22147	T	-0.182073	0.23428	T	-0.183156	0.56229	T	0.0697041159921108	0.08609	T	.	.	.	0.26452324	0.49519	0.27445152	0.53373	0.26452324	0.49519	0.27445152	0.53372	-5.29	0.39844	T	.	.	0.255	0.49018	B	.;.;.;.;.	.;.;.;.;.	4.439820	0.68917	25.3	0.99920182065051955	0.98721	0.97140	0.72924	D	AEFDBCI	0.842777	0.75986	D	0.42600783198415	0.62856	4.508674	0.529943737931578	0.70015	5.443328	0.999999999999759	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	5.001000	0.63693	11.515000	0.93020	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	16.761	0.85372	819	0.41190	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1197.83	39	chr16	503035	.	G	A	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.369;DP=301;ExcessHet=0;FS=3.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.056;SOR=0.813	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1208,0,1692	5	0	1	0
chr16	984940	984940	C	T	exonic	SOX8	.	nonsynonymous SNV	SOX8:NM_014587:exon3:c.C895T:p.P299S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0258133012599	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372013567	1.381e-06	4.789e-06	1.372e-06	1.389e-06	1.809e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.809e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.304	0.14303	T	0.188	0.28669	T	0.036	0.20732	B	0.012	0.16012	B	0.401776	0.04538	N	1.339300	0.999935	0.19363	N	-0.69	0.01958	N	-0.97	0.75670	T	-0.83	0.22727	N	0.063	0.03502	-0.9503	0.40920	T	0.179	0.52489	T	10	0.071636826	0.10587	T	0.025813	0.48759	D	0.154	0.40340	0.185	0.09388	0.236619781664	0.23270	0.18593160483531868	0.18511	0.213037995034	0.23811	0.734236478806	0.72125	T	0.106817	0.41849	T	-0.133824	0.30879	T	-0.430006	0.29935	T	0.0762357860803604	0.09498	T	0.358964	0.08219	T	0.025838785	0.01567	0.03310397	0.02151	0.025838785	0.01567	0.03310397	0.02151	-5.408	0.40996	T	.	.	0.063	0.01512	B	.	.	1.182873	0.15737	12.07	0.8119996578779265	0.13568	0.19236	0.20582	N	AEFDBI	0.142623	0.26512	N	-1.06363350956727	0.07322	0.3397999	-0.968816921368048	0.10490	0.5286514	0.99954096017712	0.40300	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.95	2.99	0.33673	0.551000	0.23068	0.364000	0.17606	-0.198000	0.09030	0.748000	0.29111	0.882000	0.27718	0.004000	0.06068	0.0:0.7511:0.1576:0.0913	8.241	0.30822	917	0.20147	.	.	.	.	.	.	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	0.000507	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	964.83	37	chr16	984940	.	C	T	964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.252;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.26;SOR=0.793	GT:AD:DP:GQ:PL	0/1:36,38:74:99:975,0,989	5	0	1	0
chr16	1211517	1211517	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon23:c.G4387A:p.D1463N,CACNA1H:NM_021098:exon23:c.G4387A:p.D1463N	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	714724	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.559	0.107019379893	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0015	0.0002005	31	154602	rs542245543	0.0001	0.0001	6.405e-05	0.0001	0.0013	8.79e-05	8.276e-05	0.0011	0.0011	0	2.237e-05	0	5.039e-05	0	0.0003	1.979e-05	9.944e-05	0.0013	9.849e-05	9.844e-05	7.708e-05	0.0001	0.0014	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0.0001	0	0.0002	0	0	5.881e-05	0.0005	0.0014	0.197	0.20607	T	0.179	0.29540	T	0.999	0.77913	D	0.962	0.70672	D	0.036259	0.24545	N	0.436139	0.999295	0.46578	D	1.085	0.27262	L	-4.89	0.98313	D	-4.18	0.75537	D	0.605	0.68169	1.047	0.98048	D	0.926	0.97568	D	10	0.2946446	0.47036	T	0.107019	0.78290	D	0.559	0.81888	0.773	0.89924	0.882057289649	0.88090	0.7304608920110456	0.72991	.	.	0.708253145218	0.68341	T	0.776562	0.94063	D	-0.231673	0.16429	T	-0.140937	0.60036	T	0.274511307477951	0.23939	T	0.972203	0.89922	D	0.27241325	0.50311	0.23776823	0.49082	0.2666221	0.49733	0.236766	0.48956	-7.467	0.59008	T	0.2926297351955737	0.38935	0.159	0.35183	B	.;.;.;.	.;.;.;.	4.599355	0.72823	25.9	0.99423473693900821	0.63887	0.94538	0.61490	D	AEFBCI	0.899163	0.84324	D	0.236166521376934	0.52959	3.467065	0.231000056233872	0.51576	3.338923	0.999990341096675	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.99	3.99	0.45527	7.910000	0.86855	9.745000	0.81450	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:1.0:0.0	15.576	0.76129	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	605.83	37	chr16	1211517	.	G	A	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.644;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.222;SOR=0.577	GT:AD:DP:GQ:PL	0/1:20,26:46:99:616,0,456	5	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2638.05	74	chr16	1397277	.	A	*	2638.05	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.44;DP=305;ExcessHet=0.2119;FS=2.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.99;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,23:24:32:.:.:870,32,0:.	3	1	1	1
chr16	1911870	1911870	T	C	exonic	HS3ST6	.	nonsynonymous SNV	HS3ST6:NM_001009606:exon2:c.A749G:p.E250G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.240693453082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	2.733e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	3.883e-05	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.53426	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.050712	1	0.81001	D	3.16	0.88528	M	.	.	.	.	.	.	0.911	0.91276	0.381	0.88808	D	0.595	0.85543	D	10	0.9943797	0.99939	D	0.240693	0.88685	D	0.817	0.94123	0.927	0.98806	0.775605188755	0.77353	0.7649399129830365	0.76442	.	.	0.550078868866	0.45869	T	0.651821	0.89444	D	0.328958	0.85091	D	0.234749	0.84895	D	0.993109583854675	0.83778	D	.	.	.	0.75215644	0.80993	0.743278	0.84825	0.75215644	0.80995	0.743278	0.84826	-10.766	0.78359	D	.	.	0.833	0.78873	P	.	.	4.658163	0.74329	26.1	0.99863344443137736	0.94184	0.90018	0.50874	D	AEFDBHCI	0.770004	0.70508	D	0.66513735147567	0.77354	6.658216	0.541315990847542	0.70795	5.558009	0.999998903875755	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	7.810000	0.84617	7.694000	0.65937	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0:0.0:0.0:1.0	13.641	0.61723	623	0.65786	Sulfotransferase 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	.	.	.	.	.	.	.	.	0.08333	1193.83	83	chr16	1911870	.	T	C	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.564;DP=384;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.939;SOR=0.626	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1204,0,1319	5	0	1	0
chr16	2020104	2020104	C	T	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.C203T:p.A68V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0402748117764	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1280448650	4.434e-06	1.163e-05	1.459e-06	7.487e-06	2.646e-05	1.6e-06	1.05e-06	4.39e-06	1.64e-06	0	0	0	0	0	0	3.743e-06	0	2.646e-05	6.589e-06	6.572e-06	1.287e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.088	0.32296	T	0.273	0.22154	T	0.818	0.45651	P	0.103	0.30945	B	0.674865	0.06057	U	1.227470	1	0.08975	N	0.55	0.14455	N	0.78	0.49358	T	-2.92	0.61129	D	.	.	-1.0481	0.14932	T	0.048	0.20395	T	10	0.12540063	0.23829	T	0.040275	0.59286	D	0.021	0.04004	.	.	0.333154297509	0.32921	0.07452638727128963	0.07388	.	.	0.735386788845	0.72294	T	0.009202	0.08389	T	-0.256155	0.13354	T	-0.605726	0.12335	T	0.0678110427140385	0.08341	T	0.354665	0.08016	T	0.027654776	0.01988	0.045634784	0.06183	0.027654776	0.01988	0.045634784	0.06182	-5.679	0.43506	T	.	.	0.151	0.33458	B	.;.	.;.	1.674270	0.21346	15.16	0.98527382119140827	0.42545	0.06439	0.12445	N	AEFDBCI	0.041009	0.06178	N	-0.759407416074323	0.14379	0.7157883	-0.863984892262917	0.12952	0.6692186	0.999999964038638	0.74766	0.65757	0.49021	0	0.627178	0.54094	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	3.46	1.38	0.21262	0.031000	0.13598	0.012000	0.13456	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6274:0.239:0.1336	4.634	0.11900	702	0.57624	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	422.83	34	chr16	2020104	.	C	T	422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=190;ExcessHet=0;FS=3.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.933;SOR=0.204	GT:AD:DP:GQ:PL	0/1:8,17:25:99:433,0,115	5	0	1	0
chr16	3583210	3583210	C	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040T:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	985339	Fanconi_anemia_complementation_group_P|Fanconi_anemia	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.076486118063	.	.	0.0001	0	0	0	0	4.495e-05	0	0.0008	0.00011	17	154602	rs199592185	6.977e-05	6.977e-05	3.267e-05	0.0001	0.0017	5.846e-05	5.457e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.888e-05	0.0001	0.0007	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0012	4.954e-05	3.961e-05	0.0005	0.0004	4.81e-05	0	6.54e-05	0	0	0	0	4.411e-05	0.0005	0.0012	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.017328382	0.00369	T	0.076486	0.72544	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921265212138792	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.531422	0.00377	T	-0.636965	0.09891	T	0.0362832247252377	0.03030	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.084879	0.04899	1.482	0.91676041476106818	0.20967	0.21132	0.21293	N	AEFDBI	0.094389	0.19085	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1525.09	90	chr16	3583210	.	C	A	1525.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=282;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.61;SOR=0.645	GT:AD:DP:GQ:PL	0/1:29,20:49:99:486,0,745	5	0	1	0
chr16	3727885	3727885	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G7048A:p.A2350T,CREBBP:NM_004380:exon31:c.G7162A:p.A2388T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	578530	Inborn_genetic_diseases|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.374	0.0109225825308	.	.	1.656e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs756011865	1.985e-05	2.121e-05	2.043e-05	1.926e-05	0.0005	1.393e-05	1.204e-05	0.0001	7.544e-05	0	0	0	2.52e-05	0	0.0005	8.097e-06	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.511	0.10930	T	0.702	0.41889	P	0.067	0.27542	B	0.000001	0.84330	D	0.000000	0.999342	0.46733	D	0.805	0.20218	L	-1.73	0.83327	D	-1.07	0.28497	N	0.28	0.51226	-0.5584	0.66465	T	0.280	0.65199	T	10	0.24583763	0.41838	T	0.010923	0.28000	T	0.374	0.69273	0.233	0.16155	0.827118703706	0.82548	0.18796383770417247	0.18714	0.368016935598	0.38361	0.73094445467	0.71644	T	0.394697	0.75377	T	-0.0366975	0.46437	T	-0.108962	0.62694	T	0.295550346374512	0.24820	T	0.744226	0.36463	T	0.11158837	0.26369	0.13188466	0.31660	0.11158837	0.26369	0.13188466	0.31660	-3.989	0.23639	T	.	.	0.178	0.38853	B	.;.	.;.	4.033945	0.59668	24.1	0.94209520530980817	0.24450	0.95566	0.65232	D	AEFDGBCI	0.641922	0.61908	D	0.0401985156919138	0.43693	2.657251	0.166385397579493	0.48016	3.023437	0.998722609921002	0.37539	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.35	4.38	0.52019	6.054000	0.70719	.	.	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.977000	0.56843	0.1466:0.8534:0.0:0.0	14.639	0.68310	633	0.64743	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	2104.83	37	chr16	3727885	.	C	T	2104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.432;DP=464;ExcessHet=0;FS=0.566;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.199;SOR=0.604	GT:AD:DP:GQ:PL	0/1:99,83:182:99:2115,0,2641	5	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:85,34:147:21:21,0,1543	1	0	5	0
chr16	19456878	19456878	G	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon1:c.G172C:p.V58L	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0184716012957	0.0029	0.00139776	0.0033	0.0003	0.0007	0	0.0050	0.0050	0.0044	0.0007	0.0032535	503	154602	rs148716221	0.0042	0.0042	0.0042	0.0042	0.0054	0.0041	0.0041	0.0046	0.0045	0.0004	0.0013	0.0143	0	0.0036	0.0054	0.0047	0.0033	0.0008	0.0030	0.0030	0.0029	0.0031	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0039	0.0181	0	0.0026	0.0034	0.0039	0.0019	0.0025	0.6	0.05635	T	0.733	0.05109	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.19	0.04947	N	0.077	0.05162	-1.0230	0.22736	T	0.106	0.38587	T	9	0.00557822	0.00123	T	0.018472	0.40544	T	0.016	0.02506	.	.	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.630081	0.00095	T	-0.676616	0.07192	T	0.0013078764114417	0.00013	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-2.966	0.09819	T	.	.	0.087	0.10979	B	.	.	-0.101045	0.03634	0.722	0.85946810061934309	0.16214	0.01925	0.05876	N	AEFBI	0.058377	0.10948	N	-1.38344818759726	0.02793	0.1238391	-1.3631786860953	0.03653	0.170846	0.00586523105539814	0.11064	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.76	1.45	0.21708	-0.294000	0.08346	-0.031000	0.12795	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4362:0.5638	8.156	0.30332	653	0.62661	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1418.83	36	chr16	19456878	.	G	C	1418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.02;SOR=0.693	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1429,0,1610	5	0	1	0
chr16	20840358	20840358	A	G	exonic	REXO5	.	nonsynonymous SNV	REXO5:NM_001144924:exon15:c.A1516G:p.T506A,REXO5:NM_001199053:exon15:c.A1516G:p.T506A,REXO5:NM_030941:exon15:c.A1516G:p.T506A	.	441	1077	4	0	0	4	0.00185357	.	.	.	3312575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0230801504104	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.0001682	26	154602	rs147583085	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0004	0.0002	9.132e-05	0.0003	0.0006	0	0	0.0009	0.0002	0.0003	5.115e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.718e-05	0.0001	8.876e-05	7.237e-05	0	0.0003	0.0003	0	0	0	0.0002	0.0005	0	0.0	0.91255	D	0.013	0.63109	D	0.999	0.90584	D	0.961	0.86255	D	0.001144	0.40056	N	0.251209	1	0.81001	D	.	.	.	3.16	0.36691	T	-1.7	0.40468	N	0.509	0.54322	-0.7416	0.58370	T	0.174	0.51753	T	10	0.35085383	0.51948	T	0.02308	0.46020	T	0.148	0.39182	.	.	0.781317675968	0.77929	0.5745605669788275	0.57385	0.680500345339	0.59996	0.456307291985	0.32806	T	0.033391	0.22893	T	-0.298546	0.08798	T	-0.371783	0.36680	T	0.0983934689660932	0.12179	T	0.568143	0.20156	T	0.23340611	0.46144	0.1938836	0.42981	0.23340611	0.46144	0.1938836	0.42980	-6.384	0.49384	T	.	.	0.096	0.25785	B	.;.;.	.;.;.	3.693370	0.52633	23.3	0.99728209755707464	0.82549	0.81986	0.41286	D	AEFBI	0.204973	0.33136	N	0.431641825677674	0.63169	4.545654	0.379985528740297	0.60330	4.219542	0.996170839109409	0.34572	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.98	3.89	0.44098	3.637000	0.54065	3.290000	0.37298	-0.205000	0.08568	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.906:0.0:0.094:0.0	8.101	0.30015	143	0.94301	RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1570.83	39	chr16	20840358	.	A	G	1570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.784;SOR=0.754	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1581,0,1248	5	0	1	0
chr16	21836585	21836585	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon8:c.G1664A:p.R555H,NPIPB4:NM_001310148:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384979:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384980:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384981:exon9:c.G1793A:p.R598H,NPIPB4:NM_001384982:exon9:c.G1745A:p.R582H,NPIPB3:NM_130464:exon9:c.G1790A:p.R597H	.	662	859	1	0	0	1	0.000581734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0446521985209	.	0.000998403	0.0013	0.0008	0	0.0012	0	0.0019	0	0.0009	0.0001921	5	26028	rs547149791	0.0006	0.0004	0.0007	0.0006	0.0009	0.0006	0.0006	0.0008	0.0008	0.0002	0.0003	0.0002	0.0001	2.758e-05	0.0004	0.0009	0.0006	0.0004	0.0004	0.0004	0.0006	0.0003	0.0011	0.0003	0.0002	0.0002	0.0002	0.0004	0	0.0011	0	0	0	0	0.0005	0	0	0.117	0.28271	T	0.463	0.12491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.08	0.20255	T	-0.7	0.19933	N	0.066	0.03841	-1.0120	0.26291	T	0.050	0.21143	T	2	0.015508652	0.00325	T	0.044652	0.61597	D	0.040	0.10527	.	.	0.0954503805726	0.09146	0.017123909537193265	0.01667	.	.	.	.	.	0.015205	0.12798	T	-0.580581	0.00191	T	-0.72901	0.04372	T	0.0319597719246615	0.02300	T	0.70043	0.31009	T	0.032574374	0.03308	0.06311197	0.12451	0.032574374	0.03307	0.06311197	0.12451	-10.338	0.75910	D	.	.	0.138	0.30184	B	.	.	1.851930	0.23525	16.05	0.98964411120997076	0.49403	0.00092	0.00608	N	AEFDBI	0.034814	0.04376	N	-0.265799993426706	0.30478	1.699789	-0.384927938072897	0.25445	1.399401	1.64775418838586E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.147000	0.16021	0.356000	0.17526	0.156000	0.17708	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	612	0.66786	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1081.83	37	chr16	21836585	.	C	T	1081.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=292;ExcessHet=0;FS=4.117;MLEAC=1;MLEAF=0.083;MQ=43.5;MQRankSum=-1.147;QD=11.27;ReadPosRankSum=-0.044;SOR=1.164	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1092,0,1033	5	0	1	0
chr16	30722220	30722220	A	T	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon22:c.A3640T:p.N1214Y	Floating-Harbor syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.173058254266	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs758085903	2.257e-05	2.257e-05	2.314e-05	2.2e-05	0.0002	1.61e-05	1.416e-05	0.0001	9.45e-05	0	0	0	0	0	0	1.529e-05	0	0.0002	6.571e-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	0.0	0.91255	D	0.316	0.30828	T	0.999	0.77913	D	0.956	0.69739	D	0.000047	0.53742	D	0.000000	0.912589	0.36451	D	1.445	0.36358	L	-3.75	0.95528	D	-1.98	0.45769	N	0.647	0.65844	0.316	0.87806	D	0.830	0.94288	D	10	0.55072236	0.64240	D	0.173058	0.84986	D	0.669	0.87722	0.432	0.48171	0.411923116668	0.40804	0.6250736440495511	0.62440	1.331011174	0.83652	0.815822780132	0.84387	D	0.046928	0.27572	T	0.173461	0.71441	D	0.192916	0.82736	D	0.778744220733643	0.44972	D	0.934407	0.75457	D	0.24762751	0.47743	0.33557704	0.59370	0.24762751	0.47743	0.33557704	0.59369	-15.892	0.97595	D	0.4904922084597639	0.56748	0.898	0.82647	P	.;.	.;.	4.731877	0.76216	26.5	0.98965677379977746	0.49423	0.97297	0.73868	D	AEFBCI	0.822214	0.74259	D	0.537516997059699	0.69324	5.340946	0.546608730568342	0.71161	5.61297	0.999999997615392	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	7.499000	0.80410	11.282000	0.91772	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9074:0.0:0.0926:0.0	8.014	0.29530	10	0.99061	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	769.83	35	chr16	30722220	.	A	T	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=241;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.35;SOR=1.236	GT:AD:DP:GQ:PL	0/1:29,30:59:99:780,0,766	5	0	1	0
chr16	47260633	47260633	C	A	exonic	ITFG1	.	nonsynonymous SNV	ITFG1:NM_001305002:exon11:c.G794T:p.R265L,ITFG1:NM_030790:exon11:c.G1133T:p.R378L	.	432	1087	3	0	0	3	0.00137804	.	.	.	3271606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0966153509702	0.0008	.	0.0005	0.0002	0	0	0	0.0009	0.0033	6.056e-05	0.0005951	92	154602	rs118116323	0.0015	0.0015	0.0015	0.0015	0.0019	0.0015	0.0014	0.0018	0.0018	0.0002	0.0002	0	0	0.0001	0.0002	0.0019	0.0009	0.0002	0.0008	0.0008	0.0011	0.0006	0.0016	0.0007	0.0007	0.0014	0.0013	0.0002	0	0.0002	0	0	0.0003	0	0.0016	0.0009	0.0002	0.247	0.17296	T	0.271	0.22291	T	0.028	0.22331	B	0.035	0.22741	B	0.002756	0.36001	N	0.272209	1	0.08975	N	1.625	0.41611	L	-0.97	0.75670	T	-2.06	0.50502	N	0.36	0.40164	-0.9306	0.44051	T	0.216	0.57732	T	10	0.04428017	0.03367	T	0.096615	0.76633	D	0.110	0.31079	.	.	0.0934897674506	0.08844	0.6385794070759927	0.63791	0.499857624809	0.48406	0.230907797813	0.02036	T	0.069539	0.33736	T	-0.415564	0.01827	T	-0.375872	0.36204	T	0.0139352195771068	0.00266	T	0.861114	0.55479	D	0.07517792	0.16919	0.056009367	0.09928	0.07517792	0.16918	0.056009367	0.09928	-7.045	0.54361	T	.	.	0.119	0.27791	B	.;.	.;.	1.236712	0.16323	12.46	0.97943362655611743	0.37050	0.22189	0.21662	N	AEFDBIJ	0.431693	0.49388	N	-1.03841577857603	0.07817	0.3644209	-1.01952049434552	0.09356	0.4650124	4.71871788071996E-4	0.07095	0.719381	0.83141	0	0.723133	0.82719	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.21	-0.15	0.12759	0.521000	0.22601	0.132000	0.15059	-1.070000	0.01595	0.115000	0.23085	0.014000	0.20376	0.044000	0.14658	0.0:0.4391:0.0:0.5609	8.529	0.32485	311	0.87433	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1331.83	38	chr16	47260633	.	C	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=276;ExcessHet=0;FS=3.81;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.814;SOR=0.406	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1342,0,1031	5	0	1	0
chr16	55810959	55810959	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1135G:p.M379V,CES1:NM_001025195:exon10:c.A1138G:p.M380V,CES1:NM_001266:exon10:c.A1132G:p.M378V	Carboxylesterase 1 deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00301823865943	0.0015	0.000599042	0.0009	0.0002	0.0016	0	0	0.0013	0	0	0.000925	143	154602	rs140704082	0.0011	0.0012	0.0011	0.0011	0.0027	0.0011	0.0011	0.0023	0.0021	0.0001	0.0027	0.0032	0	5.617e-05	0.0002	0.0012	0.0011	2.319e-05	0.0009	0.0009	0.0008	0.0010	0.0021	0.0008	0.0007	0.0015	0.0013	0.0002	0.0022	0.0021	0.0012	0	0	0	0.0013	0.0005	0	0.573	0.06125	T	0.288	0.21144	T	0.0	0.02946	B	0.001	0.04355	B	0.162873	0.03052	N	1.680650	1	0.08975	N	-0.035	0.05024	N	3.25	0.08810	T	-0.25	0.11008	N	0.215	0.25867	-0.9649	0.38230	T	0.009	0.03227	T	10	0.017832667	0.00383	T	0.003018	0.06487	T	0.016	0.02506	.	.	0.0551355673512	0.04727	0.34163695956160517	0.34076	0.0270787687763	0.02765	0.19772733748	0.00394	T	0.116562	0.43599	T	-0.763234	0.00014	T	-0.874347	0.00703	T	0.00351894971847399	0.00037	T	0.880112	0.59716	D	0.11659702	0.27498	0.12160358	0.29340	0.17650896	0.38566	0.102374114	0.24533	-3.211	0.12615	T	0.09313459077219707	0.06095	0.096	0.15341	B	.;.;.	.;.;.	-0.160413	0.03299	0.570	0.29192777450150564	0.01536	0.00874	0.03459	N	AEFBI	0.255024	0.37423	N	-1.47160035839418	0.02052	0.09023264	-1.51686164109198	0.02214	0.1014967	0.0883237726342526	0.16057	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.61	-5.24	0.02576	-2.043000	0.01500	-4.441000	0.02155	0.643000	0.52288	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.4133:0.3331:0.0:0.2537	3.929	0.08774	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1640.83	35	chr16	55810959	.	T	C	1640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.48;DP=301;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.302;SOR=0.934	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1651,0,1426	5	0	1	0
chr16	55853015	55853015	T	C	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.A1139G:p.Q380R,CES5A:NM_145024:exon10:c.A1139G:p.Q380R,CES5A:NM_001190158:exon11:c.A1226G:p.Q409R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0575065800009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868386266	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.013	0.64786	D	0.666	0.41149	P	0.23	0.42984	B	0.054845	0.22690	N	0.224660	1	0.08975	N	0.38	0.12130	N	-0.21	0.66294	T	-2.07	0.47344	N	0.41	0.45426	-0.8594	0.51305	T	0.212	0.57227	T	10	0.209889	0.37366	T	0.057507	0.66989	D	0.168	0.42943	0.526	0.63115	0.154104182512	0.14974	0.3231323523380862	0.32226	0.123196650637	0.13880	0.313357919455	0.12414	T	0.075974	0.51738	T	-0.13667	0.30423	T	-0.434094	0.29473	T	0.434397866260253	0.30223	T	0.779322	0.43681	T	0.21928777	0.44457	0.24947563	0.50519	0.21928777	0.44457	0.24947563	0.50518	-4.621	0.33944	T	.	.	0.085	0.13174	B	.;.;.;.;.;.	.;.;.;.;.;.	1.912637	0.24293	16.34	0.98254627986512655	0.39603	0.20592	0.21098	N	AEFGBI	0.121651	0.23642	N	-0.414998366272966	0.24944	1.350458	-0.478691081701161	0.22741	1.236722	0.00240799556031544	0.09398	0.487112	0.14033	0	0.55458	0.17659	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	5.41	4.29	0.50359	2.433000	0.44451	1.024000	0.23428	0.665000	0.62972	0.049000	0.21372	0.002000	0.18203	0.040000	0.14268	0.0:0.0:0.1617:0.8383	10.617	0.44644	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	644.83	37	chr16	55853015	.	T	C	644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.41;DP=243;ExcessHet=0;FS=7.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.387;SOR=0.228	GT:AD:DP:GQ:PL	0/1:32,29:61:99:655,0,892	5	0	1	0
chr16	56626498	56626498	T	A	exonic	MT1E	.	nonsynonymous SNV	MT1E:NM_001363555:exon2:c.T61A:p.C21S,MT1E:NM_175617:exon2:c.T61A:p.C21S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	0.0002	0.00339457	0.0033	9.628e-05	0.0012	0.0001	0	0.0003	0.0011	0.0222	0.0028331	438	154602	rs138690474	0.0015	0.0015	0.0009	0.0021	0.0201	0.0014	0.0014	0.0193	0.0190	0.0001	0.0010	0.0007	2.519e-05	0	0.0045	0.0002	0.0016	0.0201	0.0006	0.0006	0.0003	0.0010	0.0137	0.0005	0.0005	0.0110	0.0101	4.811e-05	0	0.0008	0.0006	0.0004	0	0	0.0002	0	0.0137	0.027	0.91255	D	0.079	0.60972	T	0.975	0.77913	D	0.937	0.75477	D	0.000001	0.62929	U	0.000000	0.999999	0.81001	D	.	.	.	2.56	0.13673	T	-8.77	0.98823	D	0.76	0.75834	-1.0913	0.05319	T	0.081	0.31972	T	9	0.006744832	0.00153	T	.	.	.	0.227	0.52620	0.619	0.75347	0.102598925029	0.09809	0.5861247793983562	0.58542	0.440458745318	0.44055	0.398714601994	0.24889	T	0.341125	0.71006	T	-0.395493	0.02478	T	-0.323955	0.42138	T	0.134673288983119	0.15807	T	0.777622	0.81072	T	0.6333387	0.74476	0.5622324	0.74668	0.6333387	0.74477	0.5622324	0.74669	-11.293	0.81240	D	.	.	0.644	0.76860	P	.;.	.;.	3.615058	0.51130	23.0	0.99146362494053941	0.53682	0.84229	0.43312	D	AEFBHCI	0.905708	0.85757	D	0.210901993531115	0.51727	3.351682	0.0742076914678449	0.43257	2.631176	0.999999846499509	0.74766	0.542737	0.22433	0	0.609123	0.50646	0	0.503968	0.08637	0	0.638787	0.57140	0	.	.	2.43	2.43	0.28797	4.546000	0.60415	2.922000	0.35569	0.502000	0.22824	0.993000	0.37899	0.999000	0.35428	0.984000	0.60418	0.0:0.0:0.0:1.0	8.310	0.31226	854	0.34840	Metallothionein, vertebrate, metal binding site;.	.	.	.	.	.	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	0.002114	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	2568.83	42	chr16	56626498	.	T	A	2568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=378;ExcessHet=0;FS=1.156;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.41;SOR=0.735	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2579,0,2128	5	0	1	0
chr16	66730161	66730161	T	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon7:c.A761T:p.K254M,DYNC1LI2:NM_001323955:exon7:c.A875T:p.K292M,DYNC1LI2:NM_006141:exon8:c.A992T:p.K331M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0282953865049	.	.	3.303e-05	0	0	0	0	6.005e-05	0	0	2.59e-05	4	154602	rs754383868	1.779e-05	1.779e-05	1.634e-05	1.925e-05	2.987e-05	1.237e-05	1.051e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0003	0	0	0	1.259e-05	4.968e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.009	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000002	0.62929	D	0.133902	0.999954	0.81001	D	2.26	0.64354	M	1.76	0.25996	T	-4.22	0.76254	D	0.446	0.50418	-0.7767	0.56487	T	0.170	0.51149	T	10	0.30259448	0.47795	T	0.028295	0.50995	D	0.282	0.59981	.	.	0.311241185304	0.30733	0.6177725307688289	0.61710	1.56040649893	0.88029	0.646061718464	0.59425	T	0.155432	0.49716	T	-0.0986371	0.36653	T	-0.315816	0.43031	T	0.907461643218994	0.56176	D	0.948405	0.89869	D	0.48950958	0.66473	0.36006206	0.61455	0.48950958	0.66474	0.36006206	0.61454	-11.836	0.84042	D	.	.	0.342	0.62975	A	.;.;.	.;.;.	4.821418	0.78539	26.9	0.9965353980043502	0.77442	0.92173	0.55108	D	AEFBCI	0.605022	0.59589	D	0.686584917617797	0.78753	6.935625	0.647724898944666	0.78442	6.87697	0.999995680105314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	4.065000	0.57229	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.219	0.72990	180	0.92993	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	403.83	35	chr16	66730161	.	T	A	403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.063;DP=233;ExcessHet=0;FS=1.108;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-0.325;SOR=1.022	GT:AD:DP:GQ:PL	0/1:34,19:53:99:414,0,904	5	0	1	0
chr16	67930041	67930041	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G688A:p.G230S	.	429	1086	7	0	0	7	0.00321248	.	.	.	2224657	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.801	0.273810103382	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0011	0.000194	30	154602	rs774504385	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0002	0.0003	0	0	0.0012	9.712e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.723e-05	0.0002	8.996e-05	2.415e-05	0	0	0.0009	0	0	0.0032	0.0002	0.0014	0.0006	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.000776	0.41888	D	0.239350	1	0.81001	D	4.59	0.99231	H	-6.1	0.99525	D	.	.	.	0.64	0.65245	0.679	0.92908	D	0.710	0.90042	D	9	0.65592897	0.69873	D	0.27381	0.89979	D	.	.	.	.	0.994736968977	0.99468	0.8379203363834064	0.83752	0.530354471859	0.50573	0.468298435211	0.34447	T	0.791234	0.97718	D	0.257047	0.79256	D	0.561076	0.95963	D	0.374970080933562	0.27989	T	0.987301	0.95681	D	0.728	0.79633	0.70734966	0.82744	0.728	0.79635	0.70734966	0.82745	-11.72	0.83461	D	.	.	0.901	0.82802	P	.;.	.;.	4.394928	0.67856	25.2	0.99874558226117893	0.95160	0.96662	0.70275	D	AEFBCI	0.699623	0.65691	D	0.84156867909473	0.88622	9.648298	0.701370077494279	0.82483	7.778139	0.999999999999999	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	6.176000	0.71885	2.748000	0.34514	0.549000	0.26987	1.000000	0.71638	0.980000	0.30356	0.855000	0.40485	0.0:1.0:0.0:0.0	19.920	0.97085	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;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	.	.	.	.	.	.	.	.	0.08333	1178.83	34	chr16	67930041	.	C	T	1178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.856;DP=262;ExcessHet=0;FS=1.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.9;SOR=0.491	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1189,0,982	5	0	1	0
chr16	67945400	67945400	C	A	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon21:c.G3007T:p.D1003Y,SLC12A4:NM_001145961:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145963:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145964:exon22:c.G2908T:p.D970Y,SLC12A4:NM_005072:exon22:c.G3001T:p.D1001Y	.	429	1087	6	0	0	6	0.00275229	.	.	.	2761258	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.021660994623	.	.	0.0002	0	0.0002	0	0	6.016e-05	0	0.0008	0.0001229	19	154602	rs751326359	9.989e-05	9.987e-05	5.446e-05	0.0001	0.0010	8.647e-05	8.135e-05	0.0008	0.0008	2.987e-05	4.474e-05	0.0003	0	0	0.0010	3.148e-05	0.0001	0.0010	8.541e-05	8.536e-05	6.423e-05	0.0001	0.0006	4.957e-05	3.962e-05	0.0002	8.985e-05	2.412e-05	0	0	0.0009	0	0	0	5.88e-05	0.0010	0.0006	0.004	0.68238	D	0.007	0.69154	D	0.04	0.23728	B	0.105	0.31087	B	0.000748	0.42006	D	0.237792	0.999398	0.81001	D	0	0.06538	N	0.96	0.42888	T	-2.28	0.50830	N	0.368	0.43803	-0.9896	0.32702	T	0.078	0.31193	T	10	0.07414466	0.11295	T	0.021661	0.44458	T	0.082	0.23913	.	.	0.570232391912	0.56690	0.32774334912053904	0.32687	0.605868047758	0.55455	0.477193027735	0.35670	T	0.416865	0.76969	T	-0.379022	0.03160	T	-0.373563	0.36474	T	0.0430555994315282	0.04247	T	0.955704	0.83632	D	0.23344924	0.46149	0.20587438	0.44777	0.23344924	0.46149	0.20587438	0.44776	-9.432	0.70666	D	.	.	0.171	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	3.777090	0.54290	23.5	0.98787174072175021	0.46222	0.92418	0.55666	D	AEFDGBCIJ	0.744300	0.68733	D	-0.0306868272694232	0.40470	2.403841	0.180558402993533	0.48783	3.089607	0.999999999909678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	4.634000	0.61023	4.057000	0.41556	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.9242:0.0:0.0758	12.575	0.55713	8	0.99202	SLC12A transporter, C-terminal;.;SLC12A transporter, C-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	.	.	.	.	.	.	.	.	0.08333	1206.83	39	chr16	67945400	.	C	A	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.68;DP=277;ExcessHet=0;FS=6.472;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.119;SOR=0.715	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1217,0,1355	5	0	1	0
chr16	72787702	72787719	CCGCCGCCGCCGCCGCCA	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7815_7832del:p.G2608_G2613del,ZFHX3:NM_006885:exon10:c.10557_10574del:p.G3522_G3527del	.	278	1159	76	7	2	92	0.0373754	.	.	.	726784	ZFHX3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0119	.	0.0017	0.0006	0.0008	0.0007	0.0006	0.0012	0.0016	0.0053	7.68e-05	2	26028	rs778016374	0.0011	0.0011	0.0009	0.0013	0.0128	0.0011	0.0011	0.0119	0.0115	0.0009	0.0011	9.946e-05	0.0003	7.732e-05	0.0020	0.0007	0.0014	0.0128	0.0007	0.0007	0.0006	0.0007	0.0047	0.0006	0.0005	0.0032	0.0027	0.0002	0	0.0002	0.0003	0.0011	0.0002	0.0037	0.0008	0.0015	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2048.79	41	chr16	72787701	.	GCCGCCGCCGCCGCCGCCA	G	2048.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.446;DP=348;ExcessHet=0;FS=0.787;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=1.6;SOR=0.558	GT:AD:DP:GQ:PL	0/1:41,53:94:99:2059,0,1530	5	0	1	0
chr16	74385569	74385569	G	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon4:c.G365A:p.C122Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.00443013048431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368577356	0.0023	0.0029	0.0025	0.0020	0.0023	0.0021	0.0021	0.0021	0.0021	0.0002	0.0006	7.232e-05	0	0.0108	0.0005	0.0023	0.0024	0	0.0031	0.0041	0.0029	0.0032	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0009	0	0	0.0142	0	0.0039	0	0	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-3.12	0.63782	D	0.308	0.34767	-0.9390	0.42774	T	0.196	0.54970	T	7	0.24579546	0.41833	T	0.00443	0.10844	T	0.196	0.47777	.	.	0.346315397577	0.34243	0.0031408699983224127	0.00293	4.99964404664	0.99994	.	.	.	0.057183	0.30495	T	-0.0522995	0.44097	T	-0.312901	0.43346	T	0.148935231013273	0.17018	T	0.818818	0.47619	T	0.5022683	0.67228	0.50266147	0.71250	0.5022683	0.67229	0.50266147	0.71251	-3.054	0.10775	T	.	.	0.529	0.65872	A	.	.	2.116785	0.26944	17.29	0.84661427503115538	0.15423	0.02841	0.07592	N	AEFI	0.053455	0.09634	N	-0.327762664168704	0.28096	1.54697	-0.573972078900599	0.20172	1.085655	2.97796656071523E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	.	.	.	0.723000	0.25609	0.172000	0.15530	0.061000	0.17545	1.000000	0.71638	0.001000	0.17328	0.257000	0.23443	.	.	.	696	0.58299	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	210.83	34	chr16	74385569	.	G	A	210.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=22.24;MQRankSum=-0.539;QD=3.51;ReadPosRankSum=1.17;SOR=0.409	GT:AD:DP:GQ:PL	0/1:45,15:60:99:221,0,1035	5	0	1	0
chr16	74695757	74695757	T	C	exonic	MLKL	.	startloss	MLKL:NM_001142497:exon2:c.A1G:p.M1?,MLKL:NM_152649:exon2:c.A1G:p.M1?	.	428	1093	1	0	0	1	0.000457247	.	.	.	703807	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.406	.	0.0033	0.00219649	0.0055	0.0009	0.0012	0	0.0300	0.0064	0.0049	7.772e-05	0.0050905	787	154602	rs33972728	0.0071	0.0070	0.0074	0.0067	0.0075	0.0069	0.0069	0.0074	0.0073	0.0011	0.0012	0.0001	2.549e-05	0.0262	0.0014	0.0075	0.0065	2.418e-05	0.0058	0.0058	0.0054	0.0063	0.0073	0.0055	0.0054	0.0068	0.0066	0.0013	0	0.0024	0	0	0.0280	0	0.0073	0.0019	0.0002	0.0	0.91255	D	0.029	0.63109	D	0.952	0.68779	P	0.644	0.67021	P	0.000000	0.84330	D	0.084832	0.999958	0.52396	D	.	.	.	2.0	0.79666	T	-2.63	0.56466	D	0.761	0.82660	0.045	0.83151	D	0.516	0.81879	D	9	0.00624308	0.00141	T	0.300031	0.90851	D	0.406	0.71869	.	.	0.778397103907	0.77635	0.4526847361551046	0.45186	.	.	.	.	.	0.141742	0.59044	T	-0.0434058	0.45441	T	0.171981	0.81526	D	0.0663972493382578	0.08135	T	0.9	0.65058	D	0.8681609	0.88717	0.6946142	0.82021	0.8681609	0.88719	0.6946142	0.82022	-8.028	0.71325	D	.	.	.	.	.	.;.;.	.;.;.	2.216294	0.28277	17.74	0.95189304762866289	0.26370	0.94770	0.62270	D	AEFGBCI	0.070232	0.13934	N	0.362761031498126	0.59418	4.121	0.119041397190265	0.45524	2.813983	0.999999642565584	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683672	0.66515	0	.	.	4.2	3.08	0.34576	2.299000	0.43271	4.747000	0.44638	-0.127000	0.13314	0.985000	0.35982	1.000000	0.68203	0.015000	0.10482	0.0:0.0:0.2033:0.7967	8.197	0.30563	583	0.69484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	477.83	33	chr16	74695757	.	T	C	477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.789;DP=213;ExcessHet=0;FS=2.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.364;SOR=1.201	GT:AD:DP:GQ:PL	0/1:23,21:44:99:488,0,676	5	0	1	0
chr16	81177885	81177885	C	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon3:c.G304A:p.V102I,PKD1L2:NM_001076780:exon14:c.G2359A:p.V787I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0288864205896	0.0002	.	9.15e-05	0	0.0002	0	0	0.0001	0	6.102e-05	7.12e-05	11	154602	rs201712917	0.0001	0.0001	0.0001	0.0001	0.0001	9.267e-05	8.731e-05	0.0001	9.594e-05	0.0001	6.709e-05	0	2.519e-05	0	0	0.0001	0.0002	3.478e-05	7.234e-05	7.224e-05	7.715e-05	6.731e-05	0.0001	3.975e-05	3.13e-05	4.766e-05	3.339e-05	7.252e-05	0	6.547e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	0.374	0.34192	B	0.068	0.27651	B	0.131303	0.18627	N	0.518619	1	0.20721	N	.	.	.	-0.57	0.71307	T	-0.6	0.17834	N	0.191	0.20925	-0.9522	0.40590	T	0.169	0.50923	T	9	0.122522146	0.23245	T	0.028886	0.51492	D	0.063	0.18251	.	.	0.254244900254	0.25046	.	.	.	.	0.295760095119	0.09770	T	.	.	.	-0.377051	0.03251	T	-0.564049	0.15999	T	0.0142751821426963	0.00283	T	0.615039	0.24333	T	.	.	.	.	.	.	.	.	-5.095	0.46171	T	.	.	0.086	0.10835	B	.;.	.;.	-0.417505	0.02148	0.207	0.85997550033706549	0.16246	0.02806	0.07531	N	AEFDBHCI	0.039447	0.05731	N	-0.937481770125212	0.09976	0.4745641	-1.06166705626703	0.08465	0.4163609	0.990257674033179	0.32091	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.89	-2.83	0.05425	-0.875000	0.04314	-5.540000	0.01682	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.4602:0.0:0.5398	10.804	0.45712	934	0.15400	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1140.83	33	chr16	81177885	.	C	T	1140.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=263;ExcessHet=0;FS=2.858;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.635;SOR=0.763	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1151,0,1062	5	0	1	0
chr16	84009801	84009801	C	T	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon11:c.G1291A:p.V431I	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	740392	not_provided|SLC38A8-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00496750201394	0.0009	0.000798722	0.0003	0.0040	8.67e-05	0	0	0	0	0	0.0002975	46	154602	rs144862027	8.689e-05	8.756e-05	9.394e-05	7.976e-05	0.0030	7.421e-05	6.97e-05	0.0025	0.0023	0.0030	0.0001	0	0	0	0	8.094e-06	0.0002	2.319e-05	0.0009	0.0009	0.0010	0.0008	0.0029	0.0008	0.0007	0.0025	0.0023	0.0029	0	0.0005	0	0	0	0	1.47e-05	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.023	0.19966	B	0.936563	0.07568	N	1.033990	0.999926	0.19486	N	-0.12	0.04575	N	2.86	0.10482	T	0.12	0.05604	N	0.123	0.11483	-0.9522	0.40590	T	0.006	0.02018	T	10	0.007050246	0.00160	T	0.004968	0.12535	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.6672371914437919	0.66661	.	.	0.263106405735	0.05265	T	0.013402	0.11601	T	-0.757216	0.00016	T	-0.861938	0.00822	T	0.0101706568112219	0.00137	T	0.435056	0.11905	T	0.017527655	0.00280	0.021526147	0.00201	0.017527655	0.00280	0.021526147	0.00201	-0.631	0.00670	T	.	.	0.080	0.07937	B	.	.	-0.887311	0.00947	0.037	0.42396856105708086	0.03122	0.02263	0.06543	N	AEFDBI	0.059755	0.11308	N	-1.60267704862061	0.01251	0.05443294	-1.59277260480162	0.01699	0.07719582	0.0175892361682171	0.12967	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.92	-3.44	0.04493	-0.580000	0.05920	-5.682000	0.01632	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1278:0.3329:0.253:0.2863	1.440	0.02211	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	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	759.83	47	chr16	84009801	.	C	T	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.558;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.74;SOR=0.668	GT:AD:DP:GQ:PL	0/1:19,29:48:99:770,0,446	5	0	1	0
chr16	84178991	84178991	C	T	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.G1564A:p.V522I,TAF1C:NM_001243157:exon12:c.G1564A:p.V522I,TAF1C:NM_001243160:exon12:c.G1129A:p.V377I,TAF1C:NM_001243159:exon14:c.G1333A:p.V445I,TAF1C:NM_005679:exon14:c.G2560A:p.V854I,TAF1C:NM_001243156:exon15:c.G2482A:p.V828I,TAF1C:NM_139353:exon15:c.G2278A:p.V760I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00832617299637	0.0019	0.00239617	0.0006	0.0064	0	0.0005	0	1.526e-05	0.0023	6.203e-05	0.0004722	73	154602	rs61753438	0.0002	0.0002	0.0002	0.0001	0.0052	0.0001	0.0001	0.0045	0.0043	0.0052	0.0001	0	0.0005	0	0	2.338e-05	0.0002	5.798e-05	0.0016	0.0016	0.0017	0.0015	0.0054	0.0015	0.0014	0.0048	0.0046	0.0054	0	0.0010	0	0.0002	0	0	1.47e-05	0.0014	0.0006	0.282	0.18184	T	0.47	0.12246	T	0.002	0.13644	B	0.002	0.10090	B	0.568174	0.05464	N	1.332190	1	0.08975	N	1.01	0.25309	L	3.63	0.04959	T	-0.16	0.09965	N	0.034	0.04188	-0.9223	0.45238	T	0.009	0.03011	T	10	0.0032909513	0.00056	T	0.008326	0.22055	T	0.001	0.00016	.	.	0.0762999501168	0.06990	0.04527355650433087	0.04471	.	.	0.32619407773	0.14359	T	0.001935	0.01346	T	-0.679334	0.00048	T	-0.746535	0.03623	T	0.000463537057282177	0.00004	T	0.359964	0.08281	T	0.02221676	0.00869	0.02491157	0.00520	0.02221676	0.00869	0.02491157	0.00520	-5.087	0.38850	T	.	.	0.076	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.323025	0.02517	0.299	0.76627140306086172	0.11544	0.02750	0.07434	N	AEFDBHCI	0.037178	0.05073	N	-1.40315954727484	0.02611	0.1155362	-1.4883961574456	0.02439	0.1121761	0.99999865190382	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.07	-3.41	0.04535	-2.049000	0.01493	-0.583000	0.08366	-0.890000	0.02392	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.137:0.5029:0.0:0.3601	5.303	0.15101	730	0.54327	.;.;.;.;.	.	.	.	.	.	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	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	344.83	38	chr16	84178991	.	C	T	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.671;DP=214;ExcessHet=0;FS=4.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.91;SOR=0.947	GT:AD:DP:GQ:PL	0/1:24,15:39:99:355,0,635	5	0	1	0
chr16	84179179	84179179	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C1376T:p.T459M,TAF1C:NM_001243157:exon12:c.C1376T:p.T459M,TAF1C:NM_001243160:exon12:c.C941T:p.T314M,TAF1C:NM_001243159:exon14:c.C1145T:p.T382M,TAF1C:NM_005679:exon14:c.C2372T:p.T791M,TAF1C:NM_001243156:exon15:c.C2294T:p.T765M,TAF1C:NM_139353:exon15:c.C2090T:p.T697M	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00599042	0.0022	0.0252	0.0005	0	0	4.555e-05	0	0.0002	0.0016041	248	154602	rs4150175	0.0006	0.0006	0.0006	0.0005	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0007	0	2.54e-05	0	0.0009	2.347e-05	0.0018	0.0002	0.0049	0.0050	0.0050	0.0048	0.0169	0.0046	0.0045	0.0159	0.0154	0.0169	0	0.0024	0	0	0	0	1.471e-05	0.0047	0.0006	0.248	0.17940	T	0.213	0.26549	T	0.0	0.02946	B	0.0	0.01387	B	0.012060	0.01325	N	2.621410	1	0.08975	N	0	0.06538	N	4.2	0.04544	T	-0.07	0.08033	N	0.061	0.09914	-0.9471	0.41465	T	0.002	0.00556	T	10	0.0024798512	0.00037	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.1611721386744272	0.16038	.	.	0.300989747047	0.10548	T	0.002431	0.01826	T	-0.660277	0.00063	T	-0.705624	0.05524	T	0.00308636912833371	0.00032	T	0.119488	0.00920	T	0.008186597	0.00000	0.01746894	0.00032	0.008186597	0.00000	0.01746894	0.00032	-5.792	0.44505	T	.	.	0.069	0.05668	B	.;.;.;.;.	.;.;.;.;.	0.061505	0.04723	1.355	0.89446480874650258	0.18803	0.03966	0.09375	N	AEFDBCI	0.056513	0.10453	N	-1.79192067559621	0.00565	0.02434294	-1.88752981214163	0.00518	0.02296762	0.999999999949143	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	-10.6	0.00212	-1.017000	0.03740	-0.717000	0.07722	-0.739000	0.03678	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1562:0.2823:0.4649:0.0967	4.86	0.12940	730	0.54327	.;.;.;.;.	.	.	.	.	.	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	0	0	0.002559	0.000000	0.005479	0.000000	0.000000	0.008772	0.000000	0.000000	0.08333	639.83	38	chr16	84179179	.	G	A	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=247;ExcessHet=0;FS=5.585;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-2.78;SOR=1.061	GT:AD:DP:GQ:PL	0/1:25,28:53:99:650,0,597	5	0	1	0
chr16	84368652	84368652	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001286527:exon1:c.C37T:p.L13F,ATP2C2:NM_014861:exon1:c.C37T:p.L13F	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	.	.	0.00199681	0.0069	0	0.0013	0	0	0.0001	0.0044	0.0177	0.0014424	223	154602	rs571442439	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0126	0.0123	3.328e-05	2.587e-05	3.989e-05	2.856e-05	0	0.0005	2.664e-05	0.0008	0.0133	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	6.533e-05	0	0	0	0	1.471e-05	0	0.0139	0.224	0.29823	T	0.51	0.20164	T	0.335	0.33330	B	0.08	0.28873	B	0.000001	0.00162	N	110.233000	0.987611	0.24498	N	0.625	0.15840	N	-3.19	0.93352	D	-0.92	0.24676	N	0.239	0.26957	-0.2378	0.76683	T	0.603	0.85877	D	10	0.004642248	0.00097	T	.	.	.	0.334	0.65620	0.345	0.33950	0.682531388322	0.67982	0.2050756700441414	0.20424	.	.	0.436814337969	0.30141	T	0.008746	0.08010	T	-0.250765	0.14005	T	-0.121306	0.61695	T	0.0697248160851876	0.08612	T	0.659534	0.26859	T	0.2942167	0.52381	0.39129353	0.63903	0.2942167	0.52381	0.39129353	0.63903	-5.066	0.37548	T	.	.	0.064	0.04847	B	.;.	.;.	1.769751	0.22508	15.65	0.96787542588481734	0.31098	0.44541	0.27341	N	AEFDBHCI	0.061652	0.11802	N	-0.459986949836449	0.23403	1.256511	-0.393386725710694	0.25193	1.384009	0.999999985590619	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.3	4.3	0.50540	0.492000	0.22144	0.948000	0.22902	0.599000	0.40250	0.927000	0.32177	0.991000	0.31484	0.021000	0.11733	0.0:1.0:0.0:0.0	12.132	0.53251	982	0.03397	.;.	.	.	.	.	.	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	0.002591	0.000000	0.002740	0.000000	0.000000	0.000000	0.006452	0.003846	0.08333	459.83	37	chr16	84368652	.	C	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.539;DP=187;ExcessHet=0;FS=3.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=2.41;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,20:27:99:470,0,165	5	0	1	0
chr16	84745437	84745437	G	A	exonic	USP10	.	nonsynonymous SNV	USP10:NM_005153:exon4:c.G956A:p.S319N,USP10:NM_001272075:exon5:c.G968A:p.S323N	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0090	0.0141773	0.0031	0.0369	0.0012	0	0	4.539e-05	0.0011	6.136e-05	0.0029819	461	154602	rs115881577	0.0010	0.0010	0.0011	0.0009	0.0359	0.0010	0.0010	0.0342	0.0335	0.0359	0.0015	0	0	0	0.0028	4.408e-05	0.0024	0.0002	0.0093	0.0093	0.0099	0.0087	0.0318	0.0089	0.0087	0.0304	0.0298	0.0318	0	0.0043	0	0	0	0	0.0001	0.0066	0.0004	0.32	0.15303	T	0.474	0.12211	T	0.001	0.09854	B	0.001	0.08700	B	0.000000	0.00162	N	7739.210000	0.999999	0.08975	N	1.79	0.46772	L	3.19	0.07353	T	-0.89	0.24026	N	0.041	0.03502	-0.9871	0.33323	T	0.002	0.00646	T	10	0.0021843016	0.00031	T	.	.	.	0.146	0.38789	.	.	0.23798241625	0.23396	0.0864347102999874	0.08577	0.0516791353722	0.05686	0.281554877758	0.07710	T	0.006949	0.06374	T	-0.728439	0.00024	T	-0.791968	0.02111	T	0.006144834147248	0.00068	T	0.50395	0.15873	T	0.05027915	0.09058	0.06656797	0.13653	0.05027915	0.09058	0.06656797	0.13653	-4.937	0.36148	T	.	.	0.061	0.01271	B	.;.	.;.	0.670501	0.10390	7.114	0.22407632159000687	0.00900	0.24268	0.22340	N	AEFDBI	0.132680	0.25208	N	-1.21764333929878	0.04744	0.2147574	-1.19212474536738	0.06040	0.2895809	0.999737260294031	0.42341	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.24	1.81	0.24139	1.308000	0.33133	1.407000	0.26247	-0.879000	0.02478	0.166000	0.23880	0.109000	0.22772	0.001000	0.02609	0.4704:0.0:0.5296:0.0	7.169	0.24883	906	0.23090	.;.	.	.	.	.	.	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	0	0	0.003950	0.000000	0.006831	0.008696	0.000000	0.000000	0.000000	0.000000	0.08333	713.83	55	chr16	84745437	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=364;ExcessHet=0;FS=3.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.617;SOR=1.095	GT:AD:DP:GQ:PL	0/1:46,30:76:99:724,0,1342	5	0	1	0
chr16	85100179	85100179	G	C	exonic	CIBAR2	.	nonsynonymous SNV	CIBAR2:NM_001366920:exon7:c.C713G:p.T238S,CIBAR2:NM_198491:exon7:c.C713G:p.T238S	.	.	.	.	.	.	.	.	.	.	.	3191759	CIBAR2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0107	0.0071885	0.0028	0.0305	0.0014	0	0	4.877e-05	0	6.805e-05	0.002445	378	154602	rs148969047	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0008	0.0279	0.0273	0.0295	0.0012	0	0	0	0.0009	2.52e-05	0.0017	9.374e-05	0.0080	0.0080	0.0086	0.0073	0.0282	0.0076	0.0074	0.0269	0.0263	0.0282	0	0.0021	0	0	0	0	5.879e-05	0.0024	0	0.404	0.10345	T	0.366	0.17804	T	0.151	0.28027	B	0.096	0.30313	B	0.008325	0.30897	N	0.225343	1	0.08975	N	0.85	0.21244	L	1.53	0.30401	T	-0.01	0.07155	N	0.179	0.20395	-1.0414	0.16890	T	0.021	0.08639	T	10	0.0036479533	0.00067	T	.	.	.	0.020	0.03691	0.249	0.18602	0.136095386433	0.13204	0.05684428262316063	0.05625	0.0342553097307	0.03602	0.280273079872	0.07530	T	0.003437	0.02839	T	-0.661931	0.00061	T	-0.703322	0.05646	T	0.00147234454439024	0.00015	T	0.250275	0.03772	T	0.024538515	0.01295	0.025767382	0.00633	0.024538515	0.01295	0.025767382	0.00633	-2.458	0.05501	T	.	.	0.085	0.10304	B	.;.	.;.	-0.054991	0.03919	0.866	0.50883983924186948	0.04463	0.08396	0.14331	N	AEFI	0.066984	0.13144	N	-1.0296470291278	0.07993	0.373222	-1.07644993168776	0.08165	0.4002939	0.0194499312355295	0.13163	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.567892	0.33627	0	.	.	4.82	1.67	0.23149	1.154000	0.31299	1.336000	0.25703	-0.184000	0.09925	0.016000	0.19238	0.003000	0.18671	0.001000	0.02609	0.0948:0.3375:0.5678:0.0	6.932	0.23626	934	0.15400	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	604.83	37	chr16	85100179	.	G	C	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.109;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.886;SOR=0.756	GT:AD:DP:GQ:PL	0/1:25,26:51:99:615,0,615	5	0	1	0
chr16	87690273	87690273	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1913C:p.G638A	Huntington disease-like 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	3691444	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00391759828757	.	.	0.0002	0.0016	0.0005	0	0	0	0	0	8.41e-05	13	154602	rs781608423	3.794e-05	3.762e-05	4.386e-05	3.193e-05	0.0009	2.984e-05	2.678e-05	0.0006	0.0005	0.0009	0.0003	0	0	0	0.0002	0	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0003	0	0	0	0	0	0.0014	0.0002	0.006	0.61437	D	0.667	0.06365	T	0.001	0.07471	B	0.002	0.06944	B	0.000114	0.50451	D	0.172186	0.722995	0.29904	N	1.78	0.46185	L	0.77	0.49642	T	-0.64	0.18670	N	0.161	0.16864	-1.0061	0.28126	T	0.059	0.24686	T	10	0.029916406	0.01118	T	0.003918	0.09242	T	0.067	0.19503	.	.	0.358048530964	0.35414	0.1540002527811086	0.15322	0.146840818826	0.16573	0.553863584995	0.46403	T	0.197182	0.55378	T	-0.51112	0.00495	T	-0.588748	0.13775	T	0.0365321436647288	0.03074	T	0.740726	0.35986	T	0.07183586	0.15934	0.054107994	0.09244	0.07183586	0.15933	0.054107994	0.09243	-3.841	0.21418	T	.	.	0.071	0.03887	B	.	.	1.855956	0.23579	16.07	0.68460953472950103	0.08665	0.94209	0.60445	D	AEFDBCI	0.436284	0.49657	N	-0.891899820916785	0.11034	0.5303568	-0.803718067678055	0.14405	0.7525247	0.944775920552248	0.27631	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.42	2.42	0.28720	5.369000	0.65892	4.681000	0.44321	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1817:0.17:0.6483:0.0	5.286	0.15010	952	0.10565	.	.	.	.	.	.	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	0.001013	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	882.83	38	chr16	87690273	.	G	C	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=251;ExcessHet=0;FS=2.089;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.276;SOR=1.002	GT:AD:DP:GQ:PL	0/1:29,34:63:99:893,0,801	5	0	1	0
chr16	88435081	88435081	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G7611C:p.E2537D	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	426187	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00219649	0.0012	0.0107	0	0	0	0	0	0	0.0003105	48	154602	rs199519673	0.0003	0.0003	0.0004	0.0003	0.0110	0.0003	0.0003	0.0101	0.0097	0.0110	0.0008	0	0	0	0.0014	5.561e-06	0.0007	0	0.0026	0.0026	0.0026	0.0026	0.0093	0.0024	0.0023	0.0085	0.0082	0.0093	0	0.0007	0	0	0	0	2.939e-05	0.0014	0	0.341	0.12673	T	0.411	0.14500	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.47	0.15178	N	0.033	0.02462	-1.0558	0.12829	T	0.032	0.13942	T	9	0.00340724	0.00060	T	.	.	.	0.025	0.05312	0.127	0.03251	0.0401082797425	0.02173	0.019042035614484077	0.01858	.	.	0.271938741207	0.06395	T	0.022415	0.17287	T	-0.606962	0.00132	T	-0.637671	0.09840	T	0.00492828635800772	0.00053	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28636	B	.;.	.;.	0.585983	0.09544	6.320	0.9237451245034094	0.21781	0.09932	0.15573	N	AEFGBI	0.088767	0.17994	N	-1.08886270155438	0.06848	0.3163875	-1.12006549246925	0.07317	0.3554576	0.397239598142786	0.20099	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.41	1.84	0.24348	0.215000	0.17352	0.530000	0.19240	-0.244000	0.07312	0.073000	0.22155	0.033000	0.21346	0.065000	0.16320	0.1381:0.1677:0.5223:0.1718	2.378	0.04081	.	.	.;.	.	.	.	.	.	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	0.001272	0.006250	0.006667	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	830.83	88	chr16	88435081	.	G	C	830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.101;DP=436;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.47;SOR=0.627	GT:AD:DP:GQ:PL	0/1:37,29:66:99:841,0,1087	5	0	1	0
chr16	88435851	88435851	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C8381T:p.T2794M	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	426188	Brittle_cornea_syndrome_1|not_provided|Cardiovascular_phenotype|ZNF469-related_disorder	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	0.53830230883	0.0026	0.00219649	0.0011	0.0093	0	0	0	0.0003	0	0	0.0003234	50	154602	rs202188220	0.0003	0.0003	0.0003	0.0003	0.0100	0.0003	0.0003	0.0091	0.0087	0.0100	0.0007	0.0011	2.798e-05	0	0.0014	1.205e-05	0.0006	2.524e-05	0.0025	0.0025	0.0025	0.0024	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0007	0.0020	0	0	0	2.941e-05	0.0014	0	0.082	0.33254	T	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.37	0.13226	N	0.139	0.13769	-0.9572	0.39699	T	0.004	0.01295	T	9	0.009048462	0.00205	T	0.538302	0.95689	D	0.109	0.30843	.	.	0.0482279557977	0.04254	0.08355281837578195	0.08289	.	.	0.250249028206	0.03794	T	0.007369	0.06780	T	-0.683249	0.00046	T	-0.748102	0.03560	T	0.00964435850438861	0.00125	T	0.281572	0.04927	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.12750	B	.;.	.;.	-0.027723	0.04094	0.962	0.2215879307183197	0.00878	0.01524	0.05024	N	AEFDBI	0.028208	0.02443	N	-1.09023769524081	0.06821	0.3151432	-1.24111632293756	0.05264	0.2503919	0.659728148257688	0.22257	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	3.4	-2.65	0.05739	-1.815000	0.01816	-1.527000	0.05240	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3146:0.2187:0.1292:0.3376	0.296	0.00246	.	.	.;.	.	.	.	.	.	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	0.001044	0.006024	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	124	chr16	88435851	.	C	T	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.766;DP=490;ExcessHet=0;FS=7.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.08;SOR=1.035	GT:AD:DP:GQ:PL	0/1:47,35:82:99:968,0,1261	5	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.1667	183.06	140	chr16	88436039	.	G	C	183.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.655;DP=559;ExcessHet=0.4139;FS=169.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.77;SOR=8.662	GT:AD:DP:GQ:PL	0/1:44,25:69:99:124,0,864	4	0	2	0
chr16	89100902	89100902	G	A	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001127214:exon2:c.G221A:p.R74H,ACSF3:NM_001243279:exon3:c.G221A:p.R74H,ACSF3:NM_174917:exon3:c.G221A:p.R74H	Combined malonic and methylmalonic aciduria	.	.	.	.	.	.	.	.	.	.	1516884	Combined_malonic_and_methylmalonic_acidemia	MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.00781185921633	.	.	2.499e-05	0	8.663e-05	0	0	1.52e-05	0	6.058e-05	1.94e-05	3	154602	rs750707295	1.369e-05	1.436e-05	1.225e-05	1.513e-05	5.038e-05	8.94e-06	7.27e-06	8.35e-06	3.88e-06	0	0	0	5.038e-05	1.888e-05	0	9.892e-06	6.623e-05	2.319e-05	1.313e-05	1.313e-05	2.568e-05	0	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.181	0.21884	T	0.149	0.32568	T	0.259	0.31472	B	0.053	0.25678	B	0.105893	0.19638	N	0.581596	1	0.18878	N	2.125	0.59049	M	0.75	0.50192	T	-2.03	0.51319	N	0.107	0.09207	-1.0231	0.22704	T	0.081	0.31972	T	10	0.28803486	0.46385	T	0.007812	0.20720	T	0.113	0.31778	0.723	0.85761	0.256793551483	0.25290	0.3981575677907402	0.39730	0.0531681059667	0.05860	0.213510602713	0.00969	T	0.106774	0.42268	T	-0.351906	0.04607	T	-0.561118	0.16273	T	0.14703044295311	0.16865	T	0.852615	0.53799	D	0.11501098	0.27146	0.08540166	0.19717	0.11501098	0.27146	0.08540166	0.19717	-7.737	0.59264	D	0.11277730036427724	0.09795	0.079	0.16973	B	.;.;.;.	.;.;.;.	2.023715	0.25718	16.86	0.99120273807788983	0.52958	0.10567	0.16038	N	AEFDBI	0.078288	0.15793	N	-0.780329426501693	0.13823	0.6838199	-0.806026592666324	0.14350	0.7493161	0.951270213963798	0.27947	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	5.26	-0.2	0.12567	0.204000	0.17133	0.351000	0.17477	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.241000	0.23027	0.4306:0.0:0.5694:0.0	10.201	0.42263	900	0.24599	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	75	chr16	89100902	.	G	A	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.756;DP=410;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.519;SOR=0.634	GT:AD:DP:GQ:PL	0/1:29,28:57:99:735,0,857	5	0	1	0
chr16	89738666	89738666	C	T	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon43:c.G4303A:p.A1435T	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401897	Fanconi_anemia|Fanconi_anemia_complementation_group_A|FANCA-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.341	0.0935076874281	0.0021	0.00159744	0.0006	0.0067	0.0002	0	0	3.05e-05	0	0	0.0005563	86	154602	rs74977201	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	6.708e-05	0	0	0	0	1.619e-05	0.0004	4.64e-05	0.0016	0.0016	0.0018	0.0015	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0003	0	0	0	0	1.471e-05	0.0014	0	0.097	0.32296	T	0.124	0.92824	T	1.0	0.90584	D	0.945	0.68163	D	0.000010	0.62929	D	0.000000	0.940033	0.81001	D	2.67	0.78151	M	-2.17	0.86624	D	-2.18	0.66325	N	0.271	0.30687	0.356	0.88424	D	0.658	0.88129	D	10	0.009534687	0.00215	T	0.093508	0.76086	D	0.341	0.66297	.	.	0.904755610982	0.90380	0.38304136491002155	0.38219	.	.	0.350126087666	0.17940	T	0.216051	0.57811	T	-0.23734	0.15689	T	-0.111364	0.62503	T	0.0424857242516685	0.04143	T	0.666633	0.29327	T	0.10011333	0.23634	0.14011632	0.33410	0.09844657	0.23221	0.1438917	0.34180	-6.077	0.46919	T	.	.	0.114	0.43213	B	.;.	.;.	2.748881	0.36028	20.1	0.99892745310805076	0.96666	0.95581	0.65294	D	AEFDBHCI	0.168110	0.29484	N	0.484559747137541	0.66187	4.91794	0.409207339228958	0.62139	4.42428	0.999999167165018	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.4	5.4	0.77957	1.671000	0.37129	1.773000	0.28651	0.599000	0.40250	0.904000	0.31524	0.926000	0.28431	0.038000	0.14061	0.0:0.9164:0.0:0.0836	11.766	0.51202	698	0.58074	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1423.83	34	chr16	89738666	.	C	T	1423.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.405;DP=266;ExcessHet=0;FS=4.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.738;SOR=0.3	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1434,0,1345	5	0	1	0
chr17	3440334	3440334	C	T	exonic	SPATA22	.	nonsynonymous SNV	SPATA22:NM_001170696:exon8:c.G776A:p.R259H,SPATA22:NM_001170695:exon9:c.G905A:p.R302H,SPATA22:NM_001170697:exon9:c.G905A:p.R302H,SPATA22:NM_001170698:exon9:c.G905A:p.R302H,SPATA22:NM_001321336:exon9:c.G857A:p.R286H,SPATA22:NM_001321337:exon9:c.G905A:p.R302H,SPATA22:NM_032598:exon9:c.G905A:p.R302H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.109636406294	.	.	1.715e-05	0	0	0	0	3.08e-05	0	0	1.29e-05	2	154602	rs80253914	3.004e-05	3.557e-05	4.437e-05	1.526e-05	3.547e-05	2.264e-05	1.994e-05	2.617e-05	2.284e-05	0	0	0	2.868e-05	0	0	3.547e-05	1.854e-05	1.499e-05	1.974e-05	1.97e-05	2.572e-05	1.347e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.942	0.67772	D	0.006401	0.32067	N	0.265737	0.669056	0.81001	D	.	.	.	-1.43	0.80730	T	-3.66	0.70067	D	0.392	0.54409	0.289	0.87388	D	0.502	0.81178	D	10	0.6096713	0.67373	D	0.109636	0.78668	D	0.600	0.84183	.	.	0.729586217903	0.72718	0.5036924825547847	0.50291	0.229049300073	0.25467	0.565664052963	0.48066	T	0.260989	0.63242	T	0.105547	0.64886	D	0.0144645	0.71272	D	0.934418439865112	0.60187	D	0.934906	0.77799	D	0.32304507	0.54895	0.27656588	0.53602	0.32304507	0.54895	0.27656588	0.53601	-9.141	0.69387	D	0.7064091561345032	0.78607	0.367	0.61020	A	.;.;.;.;.;.	.;.;.;.;.;.	4.911668	0.80818	27.4	0.99932595043265326	0.99439	0.84320	0.43402	D	AEFDI	0.286605	0.39895	N	0.441480035720798	0.63722	4.611422	0.459101027079372	0.65305	4.806838	0.0120700248776245	0.12274	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.59	0.56297	3.338000	0.51846	7.436000	0.58833	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9272:0.0:0.0728	14.051	0.64261	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	198.83	16	chr17	3440334	.	C	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.88;DP=131;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=1.13;SOR=0.582	GT:AD:DP:GQ:PL	0/1:18,9:27:99:209,0,472	5	0	1	0
chr17	5559754	5559754	G	C	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon4:c.C942G:p.I314M,NLRP1:NM_014922:exon4:c.C942G:p.I314M,NLRP1:NM_033004:exon4:c.C942G:p.I314M,NLRP1:NM_033006:exon4:c.C942G:p.I314M,NLRP1:NM_033007:exon4:c.C942G:p.I314M	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00662428521221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407143238	2.736e-06	2.736e-06	0	5.5e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.22486	T	0.205	0.29056	T	0.492	0.36976	P	0.206	0.37138	B	0.737611	0.06408	N	1.164190	1	0.08975	N	.	.	.	-1.94	0.84919	D	-1.71	0.40660	N	0.212	0.32370	-0.6538	0.62548	T	0.426	0.76969	T	10	0.112966	0.21208	T	0.006624	0.17472	T	0.203	0.48915	0.545	0.65873	0.492611691308	0.48895	0.26078045464960115	0.25991	0.268677020668	0.29385	0.368706256151	0.20646	T	0.006224	0.05657	T	-0.111	0.34604	T	-0.300366	0.44687	T	0.0873222572420452	0.10897	T	0.746525	0.36724	T	0.052260134	0.09722	0.06497543	0.13102	0.052260134	0.09721	0.06497543	0.13101	-6.174	0.47777	T	0.21913144138191806	0.29521	0.172	0.48685	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.017854	0.04408	1.147	0.91947938548466601	0.21274	0.07574	0.13586	N	AEFBCI	0.049432	0.08538	N	-0.870440314911263	0.11551	0.5580039	-0.952993489678972	0.10854	0.5493451	0.00448166927807266	0.10581	0.732398	0.92422	0	0.743671	0.97443	0	0.577349	0.28860	0	0.714379	0.83352	0	.	.	4.22	-0.458	0.11574	0.014000	0.13228	-3.649000	0.02631	-0.758000	0.03527	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.1982:0.3774:0.4244:0.0	4.871	0.12993	705	0.57330	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1094.83	39	chr17	5559754	.	G	C	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=271;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.46;SOR=0.53	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1105,0,956	5	0	1	0
chr17	7027530	7027530	C	G	exonic	BCL6B	.	nonsynonymous SNV	BCL6B:NM_181844:exon9:c.C1351G:p.H451D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0190591001633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.016	0.60972	D	0.771	0.43934	P	0.859	0.61184	P	0.000002	0.62929	D	0.100028	0.999977	0.53665	D	0.36	0.11994	N	2.03	0.20959	T	-4.51	0.78222	D	0.623	0.63798	-1.1068	0.03359	T	0.086	0.33382	T	10	0.6105757	0.67421	D	0.019059	0.41318	T	0.370	0.68930	0.46	0.52753	0.695917708231	0.69329	0.7599943351472632	0.75947	1.45932965126	0.86315	0.851849675179	0.89894	D	0.475228	0.80635	T	0.0570034	0.59235	T	-0.155895	0.58719	T	0.986413359642029	0.77138	D	0.858314	0.54891	D	0.5394452	0.69365	0.56640047	0.74901	0.5394452	0.69366	0.56640047	0.74902	-8.938	0.67297	D	.	.	0.958	0.87851	P	.	.	4.985856	0.82625	27.8	0.99537612244250073	0.70274	0.95639	0.65530	D	AEFDBCIJ	0.942198	0.94646	D	0.529482150906612	0.68843	5.273	0.601586683880417	0.75056	6.243312	0.999999999999999	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.638787	0.57140	0	.	.	5.47	5.47	0.80345	5.818000	0.68915	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.811	0.85586	764	0.49969	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	946.83	35	chr17	7027530	.	C	G	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=248;ExcessHet=0;FS=3.148;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.557;SOR=0.395	GT:AD:DP:GQ:PL	0/1:37,36:73:99:957,0,1075	5	0	1	0
chr17	7894968	7894970	GAG	-	exonic	CHD3	.	nonframeshift deletion	CHD3:NM_001005271:exon9:c.1498_1500del:p.E501del,CHD3:NM_001005273:exon9:c.1321_1323del:p.E442del,CHD3:NM_005852:exon9:c.1321_1323del:p.E442del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375191399	4.106e-06	4.104e-06	2.724e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	0	3.478e-05	6.572e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1071.79	34	chr17	7894967	.	AGAG	A	1071.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.27;SOR=0.584	GT:AD:DP:GQ:PL	0/1:45,29:74:99:1082,0,1799	5	0	1	0
chr17	8475854	8475854	C	G	exonic	MYH10	.	nonsynonymous SNV	MYH10:NM_005964:exon41:c.G5881C:p.E1961Q,MYH10:NM_001256095:exon42:c.G5908C:p.E1970Q,MYH10:NM_001375266:exon42:c.G5911C:p.E1971Q,MYH10:NM_001256012:exon43:c.G5974C:p.E1992Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.021815265853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.46910	T	0.243	0.24193	T	0.084	0.24799	B	0.078	0.28627	B	0.000000	0.84330	D	0.049767	0.999979	0.81001	D	0	0.06538	N	-2.12	0.86283	D	-0.91	0.24676	N	0.178	0.26957	0.242	0.86608	D	0.539	0.82965	D	10	0.24080873	0.41247	T	0.021815	0.44639	T	0.431	0.73735	0.051	0.00104	0.732501042508	0.73011	0.3993242773725406	0.39847	0.525972440642	0.50228	0.5935100317	0.51989	T	0.155004	0.49654	T	0.00567759	0.52435	T	-0.229621	0.51809	T	0.880857646465302	0.53089	D	0.945705	0.79334	D	0.19828747	0.41725	0.12875223	0.30970	0.19828747	0.41725	0.12875223	0.30969	-5.397	0.40891	T	.	.	0.185	0.42288	B	.;.;.	.;.;.	4.472129	0.69692	25.4	0.99491581082435543	0.67460	0.97478	0.75007	D	AEFDBCI	0.879383	0.80530	D	0.158589998043468	0.49220	3.124779	0.312183959748044	0.56254	3.788578	0.99999999986209	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	7.271000	0.77894	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:1.0:0.0:0.0	18.187	0.89730	316	0.87161	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	639.83	36	chr17	8475854	.	C	G	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.003;DP=239;ExcessHet=0;FS=5.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.776;SOR=0.828	GT:AD:DP:GQ:PL	0/1:34,26:60:99:650,0,965	5	0	1	0
chr17	8757478	8757478	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon2:c.C124T:p.P42S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00139567894856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.298	0.20486	T	0.651	0.40707	P	0.212	0.37394	B	0.539425	0.05305	N	1.317650	1	0.08975	N	1.245	0.31408	L	.	.	.	-2.9	0.60827	D	0.211	0.23506	-1.0584	0.12159	T	0.057	0.23980	T	9	0.05852568	0.06893	T	0.001396	0.02037	T	0.082	0.23913	0.159	0.06287	0.0297737177859	0.01360	0.07731573784390164	0.07667	0.254033164436	0.27974	0.283014297485	0.07916	T	0.007082	0.06498	T	-0.268593	0.11913	T	-0.623591	0.10906	T	0.500075101852417	0.32632	D	0.314569	0.06202	T	0.048639555	0.08509	0.11115576	0.26809	0.048639555	0.08509	0.11115576	0.26809	-3.284	0.13532	T	.	.	0.082	0.08560	B	.	.	0.000215	0.04284	1.072	0.6775746161992845	0.08450	0.00803	0.03267	N	AEFDBHCI	0.023029	0.01229	N	-0.955001691817458	0.09581	0.4540635	-1.18835251310603	0.06103	0.2927728	8.60269968834021E-4	0.07917	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.86	-3.73	0.04112	-0.532000	0.06252	-2.343000	0.03875	0.509000	0.23192	0.006000	0.17386	0.000000	0.08366	0.187000	0.21511	0.3169:0.2055:0.2704:0.2072	0.220	0.00155	840	0.37365	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	781.83	33	chr17	8757478	.	G	A	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=240;ExcessHet=0;FS=2.334;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.952;SOR=0.396	GT:AD:DP:GQ:PL	0/1:39,27:66:99:792,0,1144	5	0	1	0
chr17	8827251	8827251	G	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon13:c.C1436T:p.T479M,PIK3R6:NM_001290211:exon13:c.C1028T:p.T343M	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116100964927	.	0.000798722	0.0013	0	0.0004	0	0	4.204e-05	0	0.0062	0.0005239	81	154602	rs562238482	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0.0005	1.825e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	.	.	.	0.014	0.62352	D	0.98	0.59353	D	0.595	0.50587	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.39356	.	.	.	.	.	.	.	0.01156956	0.00252	T	0.01161	0.29407	T	.	.	.	.	0.432493127443	0.42867	0.33692688018618877	0.33605	.	.	0.330841034651	0.15061	T	0.265452	0.63731	T	-0.339382	0.05431	T	-0.258079	0.49015	T	.	.	.	0.79532	0.43818	T	0.10455087	0.24716	0.34483284	0.60174	0.10455087	0.24716	0.34483284	0.60174	-7.587	0.58220	D	.	.	0.090	0.12512	B	.;.	.;.	2.859334	0.37778	20.6	0.91961366668729405	0.21290	0.18894	0.20445	N	AEFDBHCI	0.161413	0.28747	N	.	.	.	.	.	.	0.887043051292394	0.25756	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.079188	0.02158	0	.	.	4.6	3.6	0.40374	1.320000	0.33272	4.629000	0.44108	0.671000	0.69459	0.003000	0.16062	0.939000	0.28734	0.266000	0.23669	0.0798:0.0:0.9202:0.0	13.391	0.60272	906	0.23090	.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	343.83	33	chr17	8827251	.	G	A	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.679;SOR=0.741	GT:AD:DP:GQ:PL	0/1:24,15:39:99:354,0,615	5	0	1	0
chr17	10451410	10451410	T	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.A3781C:p.S1261R	.	437	1046	36	3	0	42	0.0196813	.	.	.	703935	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.607	0.0247948073885	0.0024	0.00239617	0.0032	0.0004	0.0017	0	0.0009	0.0040	0.0066	0.0049	0.0031694	490	154602	rs34610503	0.0036	0.0036	0.0036	0.0037	0.0113	0.0035	0.0035	0.0091	0.0083	0.0004	0.0028	0.0067	2.52e-05	0.0011	0.0113	0.0037	0.0035	0.0061	0.0025	0.0025	0.0025	0.0026	0.0058	0.0023	0.0022	0.0041	0.0036	0.0006	0	0.0042	0.0087	0	0.0007	0	0.0033	0.0062	0.0058	0.002	0.72154	D	0.077	0.42436	T	0.849	0.46879	P	0.649	0.52426	P	0.000505	0.43753	U	0.000000	0.979355	0.39553	D	2.515	0.73286	M	-1.65	0.82625	D	-2.37	0.52289	N	0.587	0.60749	0.444	0.89748	D	0.646	0.87653	D	10	0.017565101	0.00376	T	0.024795	0.47786	T	0.607	0.84559	0.565	0.68633	0.944002009858	0.94341	0.14116267411786126	0.14039	0.190587588975	0.21375	0.56471145153	0.47932	T	0.468192	0.80222	T	-0.2002	0.20777	T	-0.0587076	0.66422	T	0.0515196940533941	0.05765	T	0.850115	0.53348	D	0.19272667	0.40953	0.405725	0.64965	0.19272667	0.40953	0.405725	0.64965	-13.597	0.91673	D	.	.	0.515	0.65265	A	.	.	4.385015	0.67628	25.1	0.998307327270469	0.91284	0.89744	0.50408	D	AEFI	0.493322	0.52958	N	0.520811354633792	0.68320	5.20122	0.500269396938839	0.68008	5.161289	0.00325402333299923	0.10018	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.247000	0.51123	7.874000	0.72122	0.665000	0.62972	0.995000	0.38783	0.997000	0.33255	0.997000	0.79791	0.1365:0.0:0.0:0.8635	11.245	0.48221	90	0.96275	Myosin tail	.	.	.	.	.	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	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.018939	0.08333	827.83	33	chr17	10451410	.	T	G	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=238;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.652;SOR=0.551	GT:AD:DP:GQ:PL	0/1:31,33:64:99:838,0,770	5	0	1	0
chr17	10634181	10634181	A	G	exonic	MYH3	.	nonsynonymous SNV	MYH3:NM_002470:exon32:c.T4358C:p.V1453A	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	0	1514	8	0	0	8	0.00263505	0.6787	0.444	YES	703946	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.483	0.151285918374	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0016	0.000194	30	154602	rs567759367	0.0001	0.0001	5.309e-05	0.0002	0.0017	9.872e-05	9.282e-05	0.0015	0.0014	0	0	0	0	0	0.0010	7.194e-06	9.935e-05	0.0017	6.568e-05	7.218e-05	1.285e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	.	.	.	0.332	0.18449	T	0.656	0.40834	P	0.297	0.40924	B	.	.	.	.	0.988622	0.40798	D	1.925	0.51371	L	-1.59	0.82076	D	.	.	.	0.584	0.60495	-0.2171	0.77228	T	0.460	0.79038	T	9	0.05090323	0.04891	T	0.151286	0.83286	D	.	.	.	.	0.816788185225	0.81505	0.32482756668051943	0.32395	0.328214677008	0.34941	0.61630833149	0.55208	T	0.355784	0.72273	T	-0.238015	0.15602	T	-0.127898	0.61148	T	0.122214346533249	0.14644	T	0.70353	0.31362	T	0.11414343	0.26949	0.18414254	0.41448	0.11414343	0.26949	0.18414254	0.41447	-9.737	0.72322	D	0.16355523391145274	0.20159	0.483	0.63792	A	.	.	4.179930	0.62914	24.5	0.99792196704151559	0.87750	0.98570	0.84213	D	AEFGBCI	0.952379	0.96778	D	0.348005035770109	0.58634	4.036906	0.431392825411847	0.63529	4.588641	0.999999999997243	0.74766	0.554377	0.28877	0	0.518115	0.08659	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.31	5.31	0.75063	9.279000	0.94981	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	1.0:0.0:0.0:0.0	15.546	0.75839	670	0.60992	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	605.83	36	chr17	10634181	.	A	G	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=207;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.729;SOR=1.552	GT:AD:DP:GQ:PL	0/1:21,22:43:99:616,0,514	5	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2785.06	36	chr17	11937502	.	G	T	2785.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.737;DP=331;ExcessHet=0.4139;FS=2.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.801;SOR=0.963	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1336,0,828	4	0	2	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	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	0	0	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.08333	409.83	33	chr17	17158688	.	C	T	409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.634;DP=220;ExcessHet=0;FS=7.109;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.867;QD=8.72;ReadPosRankSum=0.466;SOR=0.152	GT:AD:DP:GQ:PL	0/1:28,19:47:99:420,0,810	5	0	1	0
chr17	18264550	18264550	G	A	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.G1151A:p.R384H,MIEF2:NM_148886:exon4:c.G1184A:p.R395H	.	.	.	.	.	.	.	.	.	.	.	2194151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.148	0.00416714308504	.	.	8.451e-06	0	0	0	0	0	0	6.099e-05	1.29e-05	2	154602	rs527450134	1.166e-05	1.163e-05	9.552e-06	1.378e-05	5.974e-05	7.1e-06	5.81e-06	1.583e-05	9.3e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	8.094e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.003	0.08700	B	0.002133	0.37183	N	0.322330	1	0.81001	D	0.55	0.14455	N	3.33	0.06138	T	2.87	0.00160	N	0.038	0.01203	-0.9198	0.45581	T	0.007	0.02518	T	10	0.029523492	0.01079	T	0.004167	0.10026	T	0.148	0.39182	0.643	0.78010	0.0401082797425	0.02173	0.16931112300500056	0.16851	0.378893580639	0.39291	0.329810142517	0.14905	T	0.016306	0.13502	T	-0.505373	0.00533	T	-0.76011	0.03108	T	0.0205991728034991	0.00760	T	.	.	.	0.011461603	0.00017	0.032491807	0.01993	0.011461603	0.00017	0.032491807	0.01993	-3.443	0.17239	T	.	.	0.058	0.00876	B	.;.	.;.	-0.096127	0.03663	0.736	0.81989055753239515	0.13962	0.09301	0.15085	N	AEFBCI	0.065292	0.12728	N	-1.31151935522827	0.03542	0.1584184	-1.28942514595543	0.04573	0.2159884	0.965079111860847	0.28805	0.732398	0.92422	0	0.743671	0.97443	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.45	-4.73	0.03022	-0.022000	0.12424	-0.723000	0.07696	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.786000	0.37147	0.7423:0.0:0.2577:0.0	14.035	0.64158	258	0.89879	Mab-21 domain|Mab-21 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	.	.	.	.	.	.	.	.	0.08333	933.83	33	chr17	18264550	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=242;ExcessHet=0;FS=7.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=1.19;SOR=1.839	GT:AD:DP:GQ:PL	0/1:26,31:57:99:944,0,640	5	0	1	0
chr17	31226448	31226448	G	T	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon18:c.G2015T:p.G672V,NF1:NM_001042492:exon18:c.G2015T:p.G672V	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	152421	Juvenile_myelomonocytic_leukemia|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype|Neurofibromatosis,_type_1|not_provided	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.0386746114985	7.7e-05	.	8.335e-06	0	0	0	0	0	0	6.081e-05	6.5e-06	1	154602	rs371817372	5.474e-06	5.472e-06	4.085e-06	6.877e-06	2.319e-05	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	3.598e-06	3.313e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.215	0.26306	T	0.0	0.20480	B	0.0	0.23121	B	0.000301	0.46274	D	0.150792	0.999999	0.58761	D	0.895	0.22405	L	3.17	0.09167	T	-1.82	0.42763	N	0.478	0.53006	-0.9982	0.30423	T	0.021	0.08963	T	10	0.1589208	0.29873	T	0.038675	0.58365	D	0.097	0.27909	.	.	0.470076495525	0.46634	0.4574961841152054	0.45667	0.885660446478	0.69981	0.563262581825	0.47727	T	0.579653	0.86215	D	-0.144384	0.29196	T	-0.34832	0.39396	T	0.398458781303527	0.28884	T	0.880312	0.59828	D	0.21009009	0.43295	0.22312436	0.47180	0.21009009	0.43295	0.22312436	0.47179	-3.732	0.20253	T	.	.	0.114	0.22680	B	.;.;.	.;.;.	3.379705	0.46740	22.3	0.98843469211719137	0.47169	0.88489	0.48440	D	AEFBI	0.276353	0.39111	N	-0.079477237025098	0.38294	2.240586	0.152310143813895	0.47263	2.959306	0.996291436468647	0.34649	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	3.035000	0.49449	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1358:0.8642:0.0	15.725	0.77510	673	0.60677	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1815.83	40	chr17	31226448	.	G	T	1815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.423;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=-0.461;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,47:80:99:0|1:31226448_G_T:1826,0,1192:31226448	5	0	1	0
chr17	35411534	35411534	G	A	exonic	SLFN12	.	nonsynonymous SNV	SLFN12:NM_001289009:exon4:c.C1541T:p.S514L,SLFN12:NM_018042:exon4:c.C1541T:p.S514L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00359425	0.0015	0	0.0008	0.0012	0	1.5e-05	0.0022	0.0099	0.0013842	214	154602	rs572958618	0.0006	0.0006	0.0004	0.0008	0.0088	0.0006	0.0006	0.0083	0.0081	0	0.0004	0	0.0010	0	0.0003	3.597e-05	0.0011	0.0088	0.0004	0.0004	0.0003	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.407e-05	0	0	0	0.0015	0	0	5.882e-05	0.0005	0.0097	0.511	0.07473	T	0.701	0.05707	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	3.79	0.03809	T	-1.22	0.30964	N	0.045	0.01740	-0.9246	0.44915	T	0.006	0.01944	T	9	0.0046993196	0.00099	T	.	.	.	0.013	0.01715	.	.	0.0846915920261	0.08053	0.049395764189543084	0.04882	0.0460648221785	0.05005	0.253995835781	0.04201	T	0.011954	0.10589	T	-0.731487	0.00023	T	-0.815688	0.01541	T	0.00458965378371628	0.00049	T	0.529347	0.17530	T	0.017405529	0.00270	0.01990051	0.00109	0.017405529	0.00270	0.01990051	0.00109	-5.502	0.41886	T	.	.	0.103	0.18289	B	.;.;.	.;.;.	-1.475420	0.00310	0.005	0.10805919014671603	0.00146	0.00056	0.00418	N	AEFDGBI	0.015426	0.00293	N	-2.12066222899937	0.00115	0.004935108	-2.20273628309055	0.00110	0.004854735	0.435704205954176	0.20410	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	2.49	-4.98	0.02794	-2.433000	0.01098	-5.776000	0.01600	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2057:0.2911:0.3556:0.1477	1.741	0.02775	680	0.59965	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1345.83	34	chr17	35411534	.	G	A	1345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.37;DP=278;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.28;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1356,0,1342	5	0	1	0
chr17	36500881	36500881	G	A	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_025109:exon19:c.C1726T:p.R576W,MYO19:NM_001163735:exon23:c.C2326T:p.R776W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0108196391755	0.0005	0.000998403	0.0004	0.0038	0.0002	0	0	8.326e-05	0	0.0001	0.0003299	51	154602	rs146710980	0.0001	0.0001	0.0002	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0004	0	0	0	0.0002	2.43e-05	0.0005	3.487e-05	0.0013	0.0013	0.0014	0.0013	0.0044	0.0012	0.0011	0.0039	0.0037	0.0044	0	0.0009	0	0	0	0.0034	5.883e-05	0.0005	0	.	.	.	0.19	0.43531	T	0.01	0.15535	B	0.002	0.06944	B	0.924448	0.08464	N	0.951745	0.697014	0.33383	D	1.47	0.36993	L	.	.	.	.	.	.	0.31	0.36148	-0.9054	0.47401	T	0.168	0.50762	T	10	0.005498737	0.00121	T	0.01082	0.27789	T	.	.	.	.	0.112648838833	0.10856	0.3929433446146566	0.39209	.	.	0.212629646063	0.00927	T	0.035888	0.23893	T	-0.500479	0.00568	T	-0.490864	0.23300	T	0.00881823167332322	0.00109	T	.	.	.	0.06902985	0.15089	0.0437825	0.05526	0.06902985	0.15088	0.0437825	0.05525	-6.203	0.55136	T	.	.	0.083	0.31100	B	.;.	.;.	0.990472	0.13686	10.22	0.79775956853013785	0.12895	0.38800	0.26070	N	AEFDGBHCI	0.253433	0.37293	N	-0.884582204407858	0.11208	0.5396753	-0.876564019247477	0.12649	0.6519556	0.997352338005546	0.35530	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	2.01	0.25568	0.549000	0.23037	0.451000	0.18522	-0.904000	0.02305	0.342000	0.25692	0.016000	0.20520	0.089000	0.17737	0.2463:0.0:0.6065:0.1472	4.821	0.12754	710	0.56735	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1082.83	35	chr17	36500881	.	G	A	1082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.2;DP=231;ExcessHet=0;FS=14.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-1.367;SOR=0.075	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1093,0,537	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:37,36:73:99:477,0,530	0	0	6	0
chr17	39766491	39766491	C	T	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001284516:exon3:c.G88A:p.E30K,IKZF3:NM_001257413:exon4:c.G166A:p.E56K,IKZF3:NM_001257412:exon5:c.G283A:p.E95K,IKZF3:NM_001257414:exon5:c.G427A:p.E143K,IKZF3:NM_001257409:exon6:c.G610A:p.E204K,IKZF3:NM_001257411:exon6:c.G400A:p.E134K,IKZF3:NM_183231:exon6:c.G544A:p.E182K,IKZF3:NM_183232:exon6:c.G595A:p.E199K,IKZF3:NM_001257408:exon7:c.G727A:p.E243K,IKZF3:NM_001257410:exon7:c.G568A:p.E190K,IKZF3:NM_183228:exon7:c.G661A:p.E221K,IKZF3:NM_183229:exon7:c.G712A:p.E238K,IKZF3:NM_183230:exon7:c.G712A:p.E238K,IKZF3:NM_001284515:exon8:c.G88A:p.E30K,IKZF3:NM_012481:exon8:c.G829A:p.E277K,IKZF3:NM_001284514:exon9:c.G88A:p.E30K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0195247514546	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0001	0	0.0003	0.0001423	22	154602	rs147745873	0.0001	0.0001	8.763e-05	0.0001	0.0013	8.772e-05	8.256e-05	0.0006	0.0004	0	0.0001	0.0007	0	0	0.0013	6.048e-05	6.658e-05	0.0005	4.596e-05	4.593e-05	5.14e-05	4.028e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0.0009	0.0004	0.04	0.78490	D	0.14	0.51421	T	0.264	0.77913	B	0.109	0.86255	B	0.000418	0.44736	D	0.098132	0.999999	0.81001	D	2.48	0.72069	M	3.19	0.19726	T	-2.69	0.67477	D	0.509	0.59901	-0.8244	0.53657	T	0.179	0.52582	T	10	0.13741183	0.28139	T	0.019525	0.41916	T	0.265	0.57870	.	.	0.375737878683	0.37188	0.741259572624759	0.74071	1.44494330437	0.86042	0.625129461288	0.56455	T	.	.	.	-0.155945	0.27387	T	-0.119049	0.61881	T	0.182030462946067	0.19363	T	0.960904	0.94842	D	0.31267986	0.54017	0.27875775	0.53839	0.31267986	0.54017	0.27875775	0.53838	-13.047	0.90467	D	.	.	0.692	0.86235	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.450772	0.69188	25.3	0.99928076817133593	0.99222	0.98553	0.84020	D	AEFBCI	0.957398	0.97655	D	0.661166591356286	0.77093	6.608838	0.713465927006006	0.83400	8.011966	1.0	0.98316	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	7.654000	0.82708	4.075000	0.41695	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.085	0.97797	635	0.64580	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	581.83	39	chr17	39766491	.	C	T	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.015;DP=234;ExcessHet=0;FS=6.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.267;SOR=2.179	GT:AD:DP:GQ:PL	0/1:20,19:39:99:592,0,586	5	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	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	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.1667	953.06	33	chr17	46872579	.	A	G	953.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.042;DP=224;ExcessHet=0.4139;FS=1.672;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.248;SOR=0.941	GT:AD:DP:GQ:PL	0/1:21,20:41:99:435,0,504	4	0	2	0
chr17	49798438	49798438	G	A	exonic	KAT7	.	nonsynonymous SNV	KAT7:NM_001199155:exon4:c.G460A:p.A154T,KAT7:NM_007067:exon4:c.G460A:p.A154T	.	430	1082	10	0	0	10	0.00459982	.	.	.	4151717	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00498300778934	7.7e-05	0.000199681	0.0001	0	0	0	0	5.994e-05	0	0.0005	9.7e-05	15	154602	rs374961973	9.713e-05	9.713e-05	6.67e-05	0.0001	0.0009	8.376e-05	7.915e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0009	5.845e-05	0.0003	0.0006	7.879e-05	7.874e-05	8.994e-05	6.714e-05	0.0006	4.494e-05	3.51e-05	0.0002	8.992e-05	0	0	6.535e-05	0	0	0	0	0.0001	0.0005	0.0006	0.059	0.37536	T	0.31	0.22561	T	0.087	0.24971	B	0.012	0.16012	B	0.000031	0.55875	D	0.161258	0.999999	0.81001	D	0.975	0.24501	L	.	.	.	-0.43	0.14390	N	0.214	0.27792	-0.9189	0.45702	T	0.175	0.51864	T	9	0.04143229	0.02799	T	0.004983	0.12566	T	0.060	0.17295	.	.	0.221890330934	0.21812	0.5754939539237162	0.57478	0.754994403058	0.63972	0.758369863033	0.75687	T	0.073684	0.34756	T	-0.320061	0.06892	T	-0.361262	0.37905	T	0.0746161028858602	0.09283	T	0.940406	0.77539	D	0.11227185	0.26525	0.10373285	0.24896	0.11227185	0.26525	0.10373285	0.24896	-3.179	0.12226	T	.	.	0.070	0.17488	B	.;.	.;.	3.324704	0.45740	22.2	0.99865360508876788	0.94366	0.95475	0.64868	D	AEFDBHCIJ	0.740432	0.68468	D	0.00338514986074685	0.42010	2.523179	0.197927053765125	0.49734	3.173078	0.999999999128915	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.04	5.05	0.67566	6.826000	0.75090	8.634000	0.77865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8656:0.1344	16.189	0.81787	869	0.31655	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1546.83	34	chr17	49798438	.	G	A	1546.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.608;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.321;SOR=0.677	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1557,0,1298	5	0	1	0
chr17	50108622	50108622	G	A	exonic	PDK2	.	nonsynonymous SNV	PDK2:NM_001199899:exon9:c.G680A:p.R227Q,PDK2:NM_002611:exon9:c.G872A:p.R291Q,PDK2:NM_001199898:exon10:c.G680A:p.R227Q	.	.	.	.	.	.	.	.	.	.	.	2341482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00904376671767	0.0004	.	0.0005	0.0005	0	0.0001	0	0.0007	0	7.745e-05	0.0004075	63	154602	rs148586321	0.0004	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0004	0.0002	3.841e-05	0	1.876e-05	0.0002	0.0006	0.0002	1.168e-05	0.0009	0.0009	0.0009	0.0010	0.0006	0.0008	0.0008	0.0003	0.0003	0.0003	0.0978	0.0006	0	0	0	0	0.0005	0.0005	0	0.244	0.19023	T	0.216	0.27235	T	0.152	0.28062	B	0.021	0.19346	B	0.193065	0.16795	N	0.466119	0.975639	0.39206	D	0.31	0.10265	N	0.55	0.54728	T	-1.83	0.43717	N	0.33	0.38027	-1.0235	0.22573	T	0.090	0.34518	T	10	0.015206218	0.00319	T	0.009044	0.23797	T	0.042	0.11227	.	.	0.554920031903	0.55151	0.5237461796740468	0.52298	0.645396714741	0.57992	0.590987503529	0.51633	T	0.333237	0.70311	T	-0.385264	0.02885	T	-0.44845	0.27868	T	0.0302910893873694	0.02035	T	0.834417	0.51562	T	0.24345095	0.47283	0.1848079	0.41555	0.24345095	0.47283	0.1848079	0.41554	-6.875	0.53336	T	.	.	0.071	0.04002	B	.;.;.;.	.;.;.;.	4.285492	0.65313	24.8	0.99443224251336715	0.64870	0.85938	0.45131	D	AEFDGBCI	0.585397	0.58384	D	-0.292007423664452	0.29455	1.633623	-0.166579719423912	0.32775	1.868007	0.998685715976869	0.37455	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	2.93	0.33092	4.009000	0.56822	8.717000	0.78152	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2078:0.0:0.7922:0.0	7.520	0.26793	807	0.43470	.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	916.83	34	chr17	50108622	.	G	A	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=250;ExcessHet=0;FS=2.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.55;SOR=0.426	GT:AD:DP:GQ:PL	0/1:36,34:70:99:927,0,866	5	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	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	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.08333	886.83	33	chr17	58203086	.	A	T	886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=218;ExcessHet=0;FS=2.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.05;SOR=0.364	GT:AD:DP:GQ:PL	0/1:15,29:44:99:897,0,398	5	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	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	0.010326	0.000000	0.014986	0.020661	0.000000	0.000000	0.009740	0.011719	0.08333	1417.83	34	chr17	63880586	.	C	T	1417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.403;DP=283;ExcessHet=0;FS=2.738;MLEAC=1;MLEAF=0.083;MQ=59.89;MQRankSum=-0.929;QD=14.62;ReadPosRankSum=-0.3;SOR=1.077	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1428,0,1238	5	0	1	0
chr17	67959637	67959645	CCAGCTCCT	-	exonic	BPTF	.	nonframeshift deletion	BPTF:NM_182641:exon24:c.8023_8031del:p.A2682_P2684del,BPTF:NM_004459:exon26:c.7972_7980del:p.A2665_P2667del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466624879	6.054e-06	5.631e-06	6.002e-06	6.106e-06	6.246e-05	2.6e-06	1.88e-06	1.034e-05	3.87e-06	0	0	0	6.246e-05	0	0	5.853e-06	0	0	7.365e-06	7.042e-06	0	1.518e-05	1.612e-05	0	0	.	.	0	0	0	0	0	0	0	1.612e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2237.79	97	chr17	67959636	.	ACCAGCTCCT	A	2237.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=480;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=0.546;SOR=0.685	GT:AD:DP:GQ:PL	0/1:46,60:106:99:2248,0,1624	5	0	1	0
chr17	67959642	67959642	T	0	exonic	BPTF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3893.69	69	chr17	67959642	.	T	*	3893.69	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.16;DP=498;ExcessHet=3.1439;FS=1.306;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.199;SOR=0.618	GT:AD:DP:GQ:PL	0/1:46,60:106:99:2248,0,1624	5	0	1	0
chr17	68271583	68271583	T	C	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon5:c.A577G:p.I193V,SLC16A6:NM_001174166:exon6:c.A577G:p.I193V	.	433	1082	7	0	0	7	0.00322432	.	.	.	2331855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00782871296653	0.0003	0.000399361	0.0004	0.0002	0.0003	0	0	0.0005	0.0033	0.0002	0.0003752	58	154602	rs144470811	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0077	0.0069	0.0004	0.0006	0.0037	0	1.872e-05	0.0097	0.0002	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0007	0.0006	0.0002	0	0.0011	0.0026	0	0	0.0102	0.0003	0.0009	0.0002	0.443	0.09182	T	0.44	0.13912	T	0.011	0.15914	B	0.03	0.21741	B	0.001449	0.38980	N	0.249425	1	0.81001	D	1.64	0.41913	L	0.48	0.55945	T	-0.39	0.13611	N	0.162	0.23380	-1.0731	0.08745	T	0.100	0.37137	T	10	0.013323337	0.00283	T	0.007829	0.20773	T	0.068	0.19811	.	.	0.318828661733	0.31499	0.21961182318223102	0.21877	0.409640644394	0.41775	0.362998306751	0.19822	T	0.07893	0.36007	T	-0.400896	0.02284	T	-0.459602	0.26643	T	0.00784043668749551	0.00092	T	0.691431	0.30091	T	0.059705667	0.12165	0.06626017	0.13548	0.059705667	0.12164	0.06626017	0.13547	-3.793	0.20700	T	.	.	0.083	0.17189	B	.;.;.	.;.;.	1.521896	0.19539	14.31	0.91046540843169699	0.20298	0.93915	0.59560	D	AEFBI	0.381117	0.46350	N	-0.501761219732488	0.22022	1.173049	-0.418705535787528	0.24447	1.338828	4.79146737857058E-5	0.03989	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.33	2.02	0.25641	2.551000	0.45481	3.742000	0.39654	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.529000	0.29684	0.0:0.0852:0.164:0.7508	6.544	0.21594	885	0.28214	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	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	0.009063	0.005051	0.009511	0.023392	0.000000	0.008621	0.000000	0.007576	0.08333	1278.83	37	chr17	68271583	.	T	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.618;SOR=0.773	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1289,0,935	5	0	1	0
chr17	68927933	68927933	A	G	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon8:c.T1073C:p.F358S,ABCA8:NM_001288986:exon9:c.T1256C:p.F419S,ABCA8:NM_007168:exon9:c.T1256C:p.F419S,ABCA8:NM_001288985:exon10:c.T1256C:p.F419S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0090	0.0109824	0.0034	0.0369	0.0011	0	0	2.213e-05	0	7.578e-05	0.0025032	387	154602	rs77734018	0.0008	0.0008	0.0009	0.0007	0.0297	0.0008	0.0007	0.0282	0.0276	0.0297	0.0011	0	0	0	0.0017	1.354e-05	0.0017	4.872e-05	0.0079	0.0079	0.0078	0.0080	0.0281	0.0075	0.0073	0.0268	0.0263	0.0281	0	0.0011	0	0	0	0	4.41e-05	0.0028	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.955	0.69585	D	0.001806	0.37945	N	0.118294	0.990608	0.41195	D	3.37	0.91327	M	-2.88	0.91533	D	-7.04	0.94430	D	0.77	0.80767	0.405	0.89164	D	0.697	0.89547	D	10	0.007897347	0.00179	T	.	.	.	0.633	0.85924	.	.	0.939307417577	0.93868	0.6238119418720228	0.62314	0.452373610566	0.44962	0.410543054342	0.26532	T	0.587402	0.86582	D	-0.165984	0.25843	T	0.010429	0.71010	D	0.0499421364926783	0.05490	T	0.928407	0.76011	D	0.871901	0.89012	0.8440341	0.91105	0.871901	0.89014	0.8440341	0.91106	-11.228	0.80893	D	.	.	0.481	0.63694	A	.;.;.;.	.;.;.;.	4.833015	0.78829	27.0	0.99868377485551552	0.94637	0.98145	0.79986	D	AEFBI	0.878917	0.80449	D	0.862110383646771	0.89786	10.11715	0.768621517182804	0.87541	9.257711	0.191623478200863	0.18007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.93	4.93	0.64394	6.808000	0.74994	9.184000	0.79095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.349	0.54463	921	0.19240	.;.;.;.	.	.	.	.	.	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	0.004536	0.010204	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	418.83	33	chr17	68927933	.	A	G	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.982;DP=194;ExcessHet=0;FS=5.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.072;SOR=0.16	GT:AD:DP:GQ:PL	0/1:15,18:33:99:429,0,430	5	0	1	0
chr17	73285963	73285963	C	T	exonic	CDC42EP4	.	nonsynonymous SNV	CDC42EP4:NM_012121:exon2:c.G538A:p.D180N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.013261070492	.	.	8.346e-06	0	0	0	0	1.526e-05	0	0	1.29e-05	2	154602	rs749088950	8.211e-06	8.209e-06	6.808e-06	9.629e-06	0.0002	4.38e-06	3.46e-06	9.24e-06	4.56e-06	2.987e-05	0	3.826e-05	0	0	0.0002	4.497e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.419	0.14158	T	0.943	0.53072	P	0.278	0.40236	B	0.011064	0.29673	N	0.338646	1	0.81001	D	2.42	0.70002	M	1.5	0.31205	T	-0.91	0.24460	N	0.298	0.33687	-1.0775	0.07841	T	0.065	0.26948	T	10	0.19905826	0.35900	T	0.013261	0.32524	T	0.060	0.17295	0.289	0.24921	0.352048277211	0.34822	0.5011215956728986	0.50034	0.50239789988	0.48599	0.517028868198	0.41208	T	0.138456	0.47195	T	-0.375481	0.03325	T	-0.608001	0.12147	T	0.314320594072342	0.25591	T	0.785321	0.42297	T	0.101190284	0.23901	0.081676304	0.18579	0.101190284	0.23901	0.081676304	0.18579	-5.022	0.37078	T	.	.	0.113	0.33913	B	.;.	.;.	3.765562	0.54053	23.4	0.99559713999259136	0.71707	0.92196	0.55159	D	AEFDBCI	.	.	.	-0.0465835721271725	0.39754	2.349589	-0.0968838290856579	0.35519	2.055888	0.999999205818432	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	3.678000	0.54361	5.920000	0.51151	0.549000	0.26987	0.961000	0.33663	1.000000	0.68203	0.056000	0.15673	0.0:1.0:0.0:0.0	17.163	0.86688	487	0.76954	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1157.83	34	chr17	73285963	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=267;ExcessHet=0;FS=4.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.949;SOR=1.223	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1168,0,1160	5	0	1	0
chr17	73350286	73350286	G	A	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon43:c.C5989T:p.R1997W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.0699189937817	7.7e-05	0.000599042	0.0001	0.0001	0	0	0	4.283e-05	0	0.0006	9.06e-05	14	154602	rs369870973	3.703e-05	3.762e-05	3.001e-05	4.413e-05	0.0004	2.901e-05	2.598e-05	0.0003	0.0002	5.981e-05	4.52e-05	0	2.527e-05	1.885e-05	0	1.441e-05	1.66e-05	0.0004	6.965e-05	6.771e-05	4.06e-05	0.0001	0.0016	3.715e-05	2.861e-05	0.0008	0.0005	2.535e-05	0	0	0	0	0	0	3.086e-05	0	0.0016	0.001	0.78490	D	0.006	0.70582	D	0.999	0.77913	D	0.929	0.66367	D	0.000007	0.62929	D	0.064516	0.998451	0.44939	D	2.25	0.63811	M	0.06	0.61798	T	-4.11	0.74980	D	0.905	0.90590	-0.3422	0.73780	T	0.364	0.72476	T	10	0.17569825	0.32515	T	0.069919	0.70862	D	0.453	0.75279	.	.	0.781418895437	0.77940	0.6769703795790101	0.67636	0.902148392747	0.70677	0.851698517799	0.89870	D	0.324425	0.69524	T	0.0518878	0.58586	T	0.181695	0.82094	D	0.829303979873657	0.48476	D	0.970803	0.89535	D	0.29186925	0.52166	0.32077527	0.58030	0.29186925	0.52166	0.32077527	0.58030	-12.697	0.88076	D	.	.	0.762	0.85539	P	.;.	.;.	3.746260	0.53668	23.4	0.99902146912669998	0.97350	0.88287	0.48147	D	AEFGBI	0.456726	0.50847	N	0.216293320002022	0.51989	3.376035	0.0916424926496255	0.44126	2.700522	0.980642689323973	0.30160	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.53	1.0	0.18999	2.990000	0.49090	2.054000	0.30360	0.676000	0.76740	0.999000	0.42656	0.963000	0.29397	0.985000	0.61073	0.0:0.0:0.4935:0.5065	14.928	0.70543	486	0.77016	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	769.83	42	chr17	73350286	.	G	A	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.477;DP=250;ExcessHet=0;FS=2.342;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.188;SOR=0.411	GT:AD:DP:GQ:PL	0/1:23,32:55:99:780,0,526	5	0	1	0
chr17	74863219	74863219	C	T	exonic	FDXR	.	nonsynonymous SNV	FDXR:NM_001258015:exon10:c.G1082A:p.R361K,FDXR:NM_001258016:exon10:c.G1046A:p.R349K,FDXR:NM_001258012:exon11:c.G1331A:p.R444K,FDXR:NM_001258014:exon11:c.G1178A:p.R393K,FDXR:NM_004110:exon11:c.G1220A:p.R407K,FDXR:NM_024417:exon11:c.G1202A:p.R401K,FDXR:NM_001258013:exon12:c.G1295A:p.R432K	.	421	1099	2	0	0	2	0.000909091	.	.	.	797599	not_provided|FDXR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0327805224306	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs146539535	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	0	2.241e-05	0	0	0	0.0009	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	8.069e-05	0.0004	7.09e-05	5.747e-05	0.0001	9.896e-05	0	0	6.543e-05	0	0	0	0	0.0002	0	0.0004	0.252	0.33091	T	0.05	0.52389	T	.	.	.	.	.	.	0.000037	0.55875	D	0.152104	0.994582	0.81001	D	.	.	.	1.93	0.22881	T	-1.68	0.41239	N	0.489	0.54671	-0.9662	0.37974	T	0.099	0.36805	T	10	0.27513862	0.45070	T	0.032781	0.54511	D	0.166	0.42578	.	.	0.461495907335	0.45776	0.7382766013075928	0.73772	0.37776733009	0.39206	0.572399616241	0.49017	T	0.066282	0.40969	T	-0.298055	0.08844	T	-0.401483	0.33211	T	0.246214953575847	0.22702	T	0.952005	0.83854	D	.	.	.	.	.	.	.	.	-9.482	0.70747	D	.	.	0.224	0.53944	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.432388	0.47710	22.5	0.97418946402691553	0.33865	0.82274	0.41526	D	AEFDGBCI	0.619383	0.60483	D	-0.181145692853616	0.33919	1.930004	-0.156202360282524	0.33172	1.89468	0.998463286235817	0.37014	0.634777	0.41761	0	0.606735	0.50208	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.88	1.6	0.22686	4.791000	0.62154	1.876000	0.29420	-0.214000	0.08267	1.000000	0.71638	0.948000	0.28948	0.954000	0.50415	0.1388:0.5934:0.2678:0.0	10.761	0.45463	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	0.001009	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	692.83	40	chr17	74863219	.	C	T	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.429;DP=231;ExcessHet=0;FS=1.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=1.42;SOR=1.051	GT:AD:DP:GQ:PL	0/1:14,24:38:99:703,0,367	5	0	1	0
chr17	75039210	75039210	T	A	exonic	ATP5PD	.	nonsynonymous SNV	ATP5PD:NM_001003785:exon4:c.A281T:p.E94V,ATP5PD:NM_006356:exon5:c.A353T:p.E118V	.	.	.	.	.	.	.	.	0.3134	0.54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0159139481511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.036	0.79402	D	0.005	0.38185	B	0.05	0.47925	B	0.336296	0.14033	N	0.737829	1	0.81001	D	3.12	0.87914	M	.	.	.	-4.83	0.82830	D	0.302	0.34659	-0.5361	0.67311	T	0.318	0.68770	T	9	0.22058523	0.38760	T	0.015914	0.36899	T	0.190	0.46781	0.578	0.70347	0.383256108077	0.37933	0.7238800313748233	0.72332	0.265866858698	0.29137	0.312427461147	0.12274	T	0.316113	0.68767	T	0.0323806	0.56039	T	-0.191264	0.55472	T	0.963462293148041	0.66667	D	0.611339	0.23205	T	0.26500762	0.49569	0.25265247	0.50899	0.26500762	0.49569	0.25265247	0.50898	-3.073	0.10988	T	.	.	0.263	0.52491	B	.;.	.;.	3.613885	0.51109	23.0	0.98202438244165657	0.39132	0.98666	0.85331	D	AEFBI	0.691444	0.65144	D	0.0644923901244722	0.44810	2.748472	0.0963051101645688	0.44362	2.719468	0.0117522302564591	0.12231	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	3.5	0.39181	4.330000	0.59052	4.813000	0.45056	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.1315:0.0714:0.0:0.7971	7.184	0.24965	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1192.83	34	chr17	75039210	.	T	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.58;DP=270;ExcessHet=0;FS=10.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.608;SOR=0.455	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1203,0,1358	5	0	1	0
chr17	76008657	76008659	CTC	-	exonic	EVPL	.	nonframeshift deletion	EVPL:NM_001320747:exon22:c.4612_4614del:p.E1538del,EVPL:NM_001988:exon22:c.4546_4548del:p.E1516del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.951e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs750335053	2.054e-05	2.052e-05	1.363e-05	2.753e-05	0.0006	1.457e-05	1.265e-05	0.0004	0.0004	0	0	0	0.0006	0	0	0	1.656e-05	5.797e-05	2.628e-05	2.625e-05	3.856e-05	1.344e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3079.79	35	chr17	76008656	.	TCTC	T	3079.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.178;DP=359;ExcessHet=0;FS=5.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.16;ReadPosRankSum=-0.674;SOR=0.848	GT:AD:DP:GQ:PL	0/1:60,79:139:99:3090,0,2269	5	0	1	0
chr18	9258053	9258053	G	T	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.G4717T:p.A1573S,ANKRD12:NM_001204056:exon8:c.G4717T:p.A1573S,ANKRD12:NM_015208:exon9:c.G4786T:p.A1596S	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00725114305088	.	.	8.27e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs376041175	3.422e-06	4.104e-06	0	6.879e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.127	0.27080	T	0.547	0.09522	T	0.0	0.02946	B	0.001	0.08700	B	0.376610	0.04394	N	1.359150	1	0.08975	N	0.46	0.12951	N	0.46	0.56281	T	-0.07	0.08033	N	0.087	0.10340	-1.0504	0.14285	T	0.094	0.35684	T	10	0.03224501	0.01372	T	0.007251	0.19225	T	0.089	0.25827	0.156	0.05964	0.255117706274	0.25116	0.027521963216300013	0.02702	.	.	0.225928038359	0.01681	T	0.003116	0.02515	T	-0.174988	0.24484	T	-0.489134	0.23482	T	0.0183514450141867	0.00553	T	0.564644	0.19916	T	0.023772668	0.01146	0.028798494	0.01150	0.023772668	0.01146	0.028798494	0.01150	-2.253	0.04305	T	.	.	0.076	0.06990	B	.;.	.;.	-0.549729	0.01715	0.126	0.94957923065482064	0.25871	0.10038	0.15652	N	AEFBI	0.053042	0.09522	N	-0.855524918381534	0.11915	0.5777152	-0.822215055892859	0.13957	0.726844	0.57211584574529	0.21501	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.29	1.39	0.21325	0.159000	0.16258	0.373000	0.17698	-0.103000	0.15852	0.042000	0.21073	0.000000	0.08366	0.940000	0.48062	0.2609:0.1091:0.5179:0.1121	3.041	0.05767	354	0.85282	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1436.83	42	chr18	9258053	.	G	T	1436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.552;DP=293;ExcessHet=0;FS=2.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.656;SOR=0.963	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1447,0,1702	5	0	1	0
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1264.83	33	chr18	14513787	.	T	C	1264.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.592;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.38;MQRankSum=-0.174;QD=14.71;ReadPosRankSum=-1.23;SOR=0.627	GT:AD:DP:GQ:PL	0/1:36,50:86:99:1275,0,819	5	0	1	0
chr18	31469175	31469175	C	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1723T:p.R575W	.	431	1066	24	1	0	26	0.0120482	.	.	.	715941	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0086	0.00459265	0.0067	0.0022	0.0028	0	0.0038	0.0082	0.0099	0.0105	0.0068304	1056	154602	rs61730311	0.0096	0.0096	0.0095	0.0096	0.0110	0.0094	0.0094	0.0106	0.0105	0.0015	0.0029	0.0047	0	0.0037	0.0081	0.0108	0.0087	0.0110	0.0061	0.0061	0.0065	0.0056	0.0116	0.0057	0.0056	0.0092	0.0087	0.0020	0	0.0054	0.0049	0	0.0026	0	0.0096	0.0024	0.0116	0.004	0.65419	D	0.017	0.60337	D	0.952	0.54136	P	0.339	0.42346	B	0.420484	0.04645	N	1.487420	1	0.08975	N	1.7	0.43825	L	0.26	0.59314	T	-2.05	0.47008	N	0.171	0.18239	-0.9773	0.35616	T	0.088	0.34078	T	10	0.015473664	0.00325	T	.	.	.	0.118	0.32913	.	.	0.688633057668	0.68596	0.5235609868025842	0.52280	0.114637252585	0.12932	0.196305915713	0.00357	T	0.298465	0.67102	T	-0.599532	0.00147	T	-0.621639	0.11057	T	0.017832634025567	0.00511	T	0.224178	0.02920	T	0.053436227	0.10111	0.04566627	0.06197	0.053436227	0.10111	0.04566627	0.06196	-9.348	0.69909	D	.	.	0.110	0.21087	B	.	.	1.612265	0.20598	14.82	0.9902769683644721	0.50721	0.09060	0.14890	N	AEFBCI	0.096551	0.19490	N	-0.694827379460152	0.16168	0.8213565	-0.80866395656276	0.14286	0.7456584	0.0610422171583938	0.15217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	0.463	0.15912	-0.065000	0.11575	-0.343000	0.09801	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5361:0.3006:0.0:0.1633	5.601	0.16633	723	0.55174	.	.	.	.	.	.	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	0.006546	0.000000	0.005435	0.011696	0.000000	0.008621	0.003049	0.015152	0.08333	1088.83	37	chr18	31469175	.	C	T	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=281;ExcessHet=0;FS=2.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.288;SOR=0.446	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1099,0,1107	5	0	1	0
chr18	54331786	54331786	A	C	exonic	STARD6	.	stopgain	STARD6:NM_001371101:exon4:c.T164G:p.L55X,STARD6:NM_001371102:exon4:c.T164G:p.L55X,STARD6:NM_139171:exon6:c.T341G:p.L114X	.	435	1084	1	2	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00499201	0.0011	0.0115	0.0005	0	0	4.496e-05	0.0011	0	0.0010349	160	154602	rs73958758	0.0004	0.0004	0.0005	0.0003	0.0138	0.0004	0.0003	0.0128	0.0124	0.0138	0.0008	0	0	0	0.0009	3.599e-06	0.0009	5.807e-05	0.0033	0.0033	0.0033	0.0033	0.0109	0.0031	0.0030	0.0100	0.0097	0.0109	0	0.0024	0	0	0	0	0.0001	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.104240	0.19712	N	0.408406	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.344	0.38541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264817	0.79973	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive;Tolerant|Recessive	High|High;High|High	8.241414	0.97335	37	0.98314629450067814	0.40173	0.91875	0.54452	D	AEFGI	0.040332	0.05986	N	0.717701079784443	0.80791	7.373595	0.565949114999864	0.72516	5.821909	0.723047597605223	0.22955	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.89	5.89	0.94758	4.723000	0.61658	10.836000	0.83891	0.731000	0.85647	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	12.697	0.56378	598	0.68232	START domain|START domain|START domain;START domain|START domain|START domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1280.06	33	chr18	54331786	.	A	C	1280.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.277;DP=238;ExcessHet=0.4139;FS=0.751;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.598;SOR=0.58	GT:AD:DP:GQ:PL	0/1:21,34:55:99:769,0,461	4	0	2	0
chr18	54597879	54597879	G	A	exonic	DYNAP	.	nonsynonymous SNV	DYNAP:NM_001307955:exon3:c.G211A:p.V71M,DYNAP:NM_173629:exon3:c.G289A:p.V97M	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0042	0.00519169	0.0012	0.0134	0.0006	0	0	3.004e-05	0.0011	0	0.0011837	183	154602	rs146428076	0.0005	0.0005	0.0006	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0009	0	0	0	0.0009	8.995e-07	0.0009	5.799e-05	0.0042	0.0042	0.0041	0.0042	0.0141	0.0039	0.0038	0.0131	0.0127	0.0141	0	0.0026	0	0	0	0	8.822e-05	0.0024	0	0.0	0.91255	D	0.012	0.63918	D	0.999	0.77913	D	0.952	0.69102	D	0.585619	0.11100	N	0.775562	0.99546	0.24241	N	1.59	0.40313	L	1.84	0.24656	T	-1.43	0.35194	N	0.305	0.34444	-1.0689	0.09657	T	0.059	0.24686	T	10	0.0070743263	0.00161	T	.	.	.	0.071	0.20720	.	.	0.12205267543	0.11705	0.13060489021001462	0.12985	0.0981135140586	0.11074	0.373374938965	0.21315	T	0.021642	0.16816	T	-0.56753	0.00229	T	-0.576318	0.14875	T	0.0322516133934865	0.02347	T	0.765923	0.39354	T	0.33230376	0.55659	0.49657702	0.70888	0.33230376	0.55659	0.49657702	0.70889	-6.844	0.52885	T	.	.	0.200	0.42390	B	.;.;.	.;.;.	2.623445	0.34099	19.53	0.99856430236393035	0.93548	0.68583	0.33857	D	AEFGBI	0.173250	0.30032	N	0.290153387355756	0.55649	3.728867	0.237885959738538	0.51961	3.374523	2.26425059714182E-4	0.06048	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.82	3.91	0.44383	0.300000	0.18911	-0.181000	0.11132	0.676000	0.76740	0.984000	0.35821	0.000000	0.08366	0.913000	0.44837	0.0:0.0:0.8098:0.1902	10.778	0.45559	789	0.46346	CLLAC-motif containing domain;.;CLLAC-motif containing domain	.	.	.	.	.	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	0.001511	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3115.06	34	chr18	54597879	.	G	A	3115.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=361;ExcessHet=0.4139;FS=10.629;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.301;SOR=1.3	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1526,0,1121	4	0	2	0
chr18	63987141	63987141	G	A	exonic	SERPINB8	.	nonsynonymous SNV	SERPINB8:NM_001348370:exon5:c.G448A:p.A150T,SERPINB8:NM_001276490:exon6:c.G442A:p.A148T,SERPINB8:NM_001366198:exon7:c.G988A:p.A330T,SERPINB8:NM_002640:exon7:c.G988A:p.A330T,SERPINB8:NM_198833:exon7:c.G988A:p.A330T	Peeling skin syndrome 5, Autosomal recessive	423	1097	2	0	0	2	0.000910747	.	.	.	1885051	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.566	0.0649312070045	0.0004	0.000199681	0.0002	0.0004	0.0002	0.0002	0	0.0002	0.0011	6.057e-05	0.0002523	39	154602	rs140176524	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0007	0.0002	0	2.519e-05	0.0001	0.0016	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0004	0.0008	0.0007	0.0008	0	0.0012	0	0	0	0	0.0003	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.957	0.69900	D	0.000006	0.62929	D	0.142357	1	0.81001	D	2.49	0.72568	M	-2.08	0.87671	D	-3.3	0.69236	D	0.518	0.54845	0.837	0.94867	D	0.835	0.94475	D	10	0.4867465	0.60753	T	0.064931	0.69427	D	0.566	0.82289	.	.	0.903779644956	0.90282	0.6460041567041266	0.64535	0.104621109096	0.11836	0.364694416523	0.20067	T	0.622155	0.88172	D	-0.0782662	0.39996	T	-0.0340444	0.68100	D	0.904200315475464	0.55759	D	0.975402	0.91282	D	0.59353817	0.72342	0.63859195	0.78892	0.59353817	0.72343	0.63859195	0.78893	-8.329	0.63291	D	0.5437249704713552	0.61308	0.537	0.68809	A	.;.;.	.;.;.	4.489723	0.70122	25.5	0.99918325511241468	0.98586	0.90126	0.51061	D	AEFDBHCI	0.656134	0.62822	D	0.721810336376796	0.81061	7.435127	0.591185163861024	0.74303	6.114715	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.854000	0.75239	5.711000	0.49424	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.129000	0.19529	0.0:0.0:1.0:0.0	18.891	0.92374	933	0.16026	Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	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	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	1679.83	36	chr18	63987141	.	G	A	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.37;DP=406;ExcessHet=0;FS=3.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.465;SOR=0.522	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1690,0,1646	5	0	1	0
chr19	740436	740436	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_002579:exon8:c.G587A:p.R196Q	.	377	1111	30	4	0	38	0.0168142	.	.	.	1621028	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0034	0.00179712	0.0070	0.0019	0.0025	0	0	0.0056	0.0110	0.0108	0.0025873	400	154602	rs149788617	0.0053	0.0053	0.0052	0.0055	0.0109	0.0052	0.0052	0.0103	0.0101	0.0008	0.0032	0.0044	0.0001	0.0012	0.0054	0.0055	0.0050	0.0109	0.0032	0.0032	0.0032	0.0033	0.0120	0.0030	0.0029	0.0095	0.0086	0.0012	0	0.0016	0.0023	0	0.0015	0.0034	0.0049	0.0028	0.0120	0.396	0.10623	T	0.555	0.09555	T	0.038	0.21002	B	0.003	0.08700	B	0.726794	0.09889	N	0.878657	1	0.81001	D	0.53	0.13656	N	2.03	0.20959	T	0.1	0.05810	N	0.131	0.16028	-0.9859	0.33615	T	0.034	0.14683	T	10	0.0061908364	0.00139	T	.	.	.	0.073	0.21317	.	.	0.243972157842	0.24002	0.20475948709286385	0.20392	0.171325869672	0.19303	0.240267768502	0.02815	T	0.018994	0.15211	T	-0.556514	0.00266	T	-0.564209	0.15984	T	0.0147694696718444	0.00309	T	0.780422	0.41514	T	0.026782995	0.01780	0.029422328	0.01278	0.026782995	0.01780	0.029422328	0.01278	-1.811	0.02542	T	.	.	0.062	0.01387	B	.;.	.;.	2.754484	0.36112	20.2	0.96348052000919482	0.29506	0.73002	0.35716	D	AEFDBHCI	0.180948	0.30826	N	-0.40913207807163	0.25149	1.363026	-0.322086197029723	0.27385	1.519283	0.99999999595144	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.96	1.55	0.22356	3.714000	0.54618	7.239000	0.57895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.5439:0.0:0.4561:0.0	4.463	0.11095	994	0.00715	.;.	.	.	.	.	.	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	0.004707	0.000000	0.002786	0.000000	0.000000	0.000000	0.003311	0.019231	0.25	3906.03	36	chr19	740436	.	G	A	3906.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.51;DP=395;ExcessHet=1.383;FS=15.571;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.063;SOR=1.382	GT:AD:DP:GQ:PL	0/1:41,39:80:99:1039,0,938	3	0	3	0
chr19	868108	868108	C	G	exonic	MED16	.	nonsynonymous SNV	MED16:NM_005481:exon16:c.G2627C:p.R876P	.	425	1067	30	0	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0076	0.00399361	0.0090	0.0035	0.0029	0.0001	0.0038	0.0130	0.0088	0.0069	0.0081047	1253	154602	rs147510499	0.0095	0.0095	0.0094	0.0097	0.0133	0.0094	0.0093	0.0108	0.0103	0.0022	0.0037	0.0269	2.521e-05	0.0036	0.0133	0.0105	0.0083	0.0060	0.0075	0.0075	0.0074	0.0076	0.0119	0.0071	0.0070	0.0112	0.0109	0.0020	0.0066	0.0050	0.0239	0	0.0026	0.0102	0.0119	0.0118	0.0048	0.0	0.91255	D	0.025	0.56192	D	0.146	0.27821	B	0.011	0.15521	B	0.042390	0.01905	N	3.220600	1	0.08975	N	0	0.06538	N	1.36	0.34452	T	-0.05	0.07736	N	0.117	0.19325	-1.0405	0.17162	T	0.034	0.14552	T	10	0.0022740662	0.00033	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.3392394637746466	0.33836	.	.	0.239911496639	0.02783	T	0.033685	0.23013	T	-0.565992	0.00234	T	-0.575397	0.14959	T	0.00780645400498342	0.00091	T	0.268873	0.04498	T	0.1468006	0.33589	0.11648169	0.28118	0.1468006	0.33588	0.11648169	0.28117	-2.904	0.09183	T	.	.	0.088	0.54961	B	.;.;.	.;.;.	-0.013505	0.04192	1.017	0.83938401413453423	0.15004	0.02277	0.06569	N	AEFBCI	0.054650	0.09954	N	-1.71477409777989	0.00790	0.03415921	-1.82465292834229	0.00683	0.03041107	0.999943868519029	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	0.84	-1.68	0.07773	-0.534000	0.06238	-1.958000	0.04434	-2.637000	0.00226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3511:0.0:0.6489	5.483	0.16026	994	0.00715	.;.;.	CFD	Whole_Blood	.	.	.	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	0	0	0.016244	0.015464	0.016349	0.026471	0.050000	0.000000	0.015625	0.015267	0.08333	84.83	35	chr19	868108	.	C	G	84.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.641;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-0.743;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,4:13:95:0|1:868108_C_G:95,0,256:868108	5	0	1	0
chr19	1507271	1507271	C	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon9:c.G823A:p.G275R,ADAMTSL5:NM_001367197:exon10:c.G853A:p.G285R	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	.	0.0025	0.00299521	0.0021	0.0005	0.0010	0.0001	0.0006	0.0021	0.0013	0.0081	0.0021216	328	154602	rs149051157	0.0029	0.0028	0.0028	0.0029	0.0072	0.0028	0.0028	0.0067	0.0065	0.0003	0.0010	0.0005	5.097e-05	0.0008	0.0007	0.0029	0.0032	0.0072	0.0017	0.0017	0.0018	0.0016	0.0085	0.0015	0.0015	0.0065	0.0057	0.0004	0	0.0011	0	0.0002	0.0005	0	0.0025	0.0043	0.0085	0.001	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000613	0.42945	D	0.201120	0.999498	0.48338	D	.	.	.	0.37	0.57729	T	-6.98	0.95815	D	0.931	0.93605	-0.3610	0.73234	T	0.327	0.69513	T	10	0.011863172	0.00257	T	.	.	.	0.448	0.74935	.	.	0.722145232134	0.71969	0.9284335451052194	0.92821	0.568765040297	0.53076	0.672428131104	0.63184	T	0.19599	0.57064	T	-0.18831	0.22507	T	-0.0380023	0.67836	D	0.0417845508722444	0.04015	T	0.865913	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.82640	P	.;.;.	.;.;.	4.608620	0.73068	25.9	0.9990774102145269	0.97801	0.93728	0.59021	D	AEFGBCI	0.823010	0.74321	D	0.554114886809907	0.70332	5.486156	0.426002009226478	0.63189	4.547922	0.999999903731958	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	4.543000	0.60395	7.480000	0.59248	0.469000	0.21855	0.982000	0.35529	1.000000	0.68203	0.059000	0.15899	0.0:0.8927:0.0:0.1073	8.666	0.33280	970	0.06235	ADAM-TS Spacer 1;ADAM-TS Spacer 1;ADAM-TS Spacer 1	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	579.83	42	chr19	1507271	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.181;DP=218;ExcessHet=0;FS=8.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.735;SOR=0.082	GT:AD:DP:GQ:PL	0/1:17,21:38:99:590,0,478	5	0	1	0
chr19	1817260	1817260	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon12:c.G3160A:p.G1054R	.	.	.	.	.	.	.	.	.	.	.	3312546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.0131977011892	0.0002	0.000798722	0.0004	9.756e-05	0.0013	0.0002	0	0.0003	0.0022	0.0008	0.0003622	56	154602	rs183172046	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	2.987e-05	0.0007	0	0.0003	1.905e-05	0	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0002	0.0001	0	0.0003	0	0.0010	9.414e-05	0	0.0002	0	0.0006	0.506	0.07594	T	0.492	0.11479	T	0.003	0.11197	B	0.003	0.08700	B	0.664613	0.10396	N	0.855587	1	0.08975	N	0.11	0.08516	N	2.69	0.12268	T	0.45	0.03191	N	0.229	0.25745	-0.9198	0.45581	T	0.012	0.04700	T	10	0.006639391	0.00150	T	0.013198	0.32416	T	0.024	0.04979	0.304	0.27325	0.043077524339	0.03247	0.42615965812360346	0.42532	0.112976676807	0.12750	0.331660717726	0.15185	T	0.011997	0.10618	T	-0.672739	0.00053	T	-0.811924	0.01622	T	0.0113257500524287	0.00168	T	0.0444955	0.00313	T	0.032296497	0.03227	0.047510408	0.06858	0.032296497	0.03227	0.047510408	0.06858	-2.448	0.05436	T	.	.	0.090	0.12560	B	.;.	.;.	1.487781	0.19140	14.11	0.49331518958582654	0.04192	0.07418	0.13437	N	AEFBI	0.078116	0.15754	N	-1.32329199983808	0.03410	0.1522793	-1.29270176460032	0.04528	0.2138124	6.61573971222598E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.94	0.426	0.15694	1.301000	0.33052	0.533000	0.19265	0.515000	0.23462	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.5706:0.0:0.4294	6.732	0.22577	952	0.10565	.;.	.	.	.	.	.	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	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	483.83	34	chr19	1817260	.	C	T	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.75;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.83;SOR=0.619	GT:AD:DP:GQ:PL	0/1:20,17:37:99:494,0,561	5	0	1	0
chr19	1912166	1912166	C	T	exonic	ADAT3	.	nonsynonymous SNV	ADAT3:NM_001329533:exon2:c.C71T:p.A24V,ADAT3:NM_138422:exon2:c.C119T:p.A40V	Mental retardation, autosomal recessive 36, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3656836	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00151124604191	7.8e-05	0.000199681	0.0008	0	0.0050	0	0	0.0008	0	0.0008	0.0002652	41	154602	rs201103825	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	3.084e-05	0.0006	0	0.0002	4.613e-05	0	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	9.407e-05	0	0.0002	0	0.0004	.	.	.	0.309	0.21277	T	.	.	.	.	.	.	0.186377	0.16965	N	0.549745	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.063	0.03502	-1.0503	0.14313	T	0.052	0.21960	T	9	0.0059817433	0.00134	T	0.001511	0.02343	T	0.033	0.08068	.	.	0.237489013734	0.23353	0.1829690697332961	0.18215	0.390860332694	0.40290	0.444932311773	0.31252	T	0.010952	0.09835	T	-0.50803	0.00515	T	-0.608945	0.12071	T	0.0036720207426697	0.00039	T	0.344566	0.07542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04558	B	.;.	.;.	-0.085305	0.03728	0.769	0.84071935609169113	0.15080	0.02210	0.06441	N	AEFDBI	0.035397	0.04548	N	-1.51104746711663	0.01777	0.07783318	-1.64374796253983	0.01409	0.06367045	0.999870821993131	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.79	-7.09	0.01399	-0.660000	0.05416	-7.582000	0.01127	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1245:0.2905:0.1235:0.4615	2.302	0.03910	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	0	0	0.002556	0.000000	0.001370	0.005917	0.000000	0.008621	0.000000	0.003876	0.08333	245.83	35	chr19	1912166	.	C	T	245.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.481;DP=195;ExcessHet=0;FS=14.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.354;SOR=0.012	GT:AD:DP:GQ:PL	0/1:11,12:23:99:256,0,390	5	0	1	0
chr19	1924204	1924204	C	G	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon6:c.C478G:p.Q160E,SCAMP4:NM_001329540:exon6:c.C508G:p.Q170E,SCAMP4:NM_079834:exon7:c.C610G:p.Q204E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.037039838505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	3.42e-06	1.365e-06	5.521e-06	0.0002	1.01e-06	7.3e-07	9.33e-06	4.59e-06	0	0	0	0	0	0.0002	0	1.661e-05	3.512e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.132	0.28646	T	0.335	0.18286	T	0.717	0.45487	P	0.17	0.41729	B	.	.	.	.	0.786014	0.34326	D	2.2	0.62015	M	2.31	0.29866	T	-0.86	0.23372	N	0.395	0.45992	-0.8949	0.48493	T	0.079	0.31314	T	9	0.15624866	0.29431	T	0.03704	0.57367	D	0.104	0.29647	0.239	0.17065	0.186928172975	0.18263	0.924788834268988	0.92455	0.107495780972	0.12131	0.422066152096	0.28121	T	0.028514	0.20638	T	-0.119014	0.33286	T	-0.408732	0.32373	T	0.639011561870575	0.37995	D	0.848415	0.52967	T	0.27028242	0.50100	0.18617877	0.41774	0.27028242	0.50100	0.18617877	0.41774	-3.397	0.15016	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	2.745327	0.35970	20.1	0.98386916772072608	0.40915	0.89764	0.50441	D	AEFBI	0.685582	0.64754	D	0.263049172252893	0.54288	3.594675	0.313149463886471	0.56312	3.794357	0.999998181195225	0.74766	0.744818	0.98587	0	0.698795	0.70079	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	6.499000	0.73589	7.530000	0.59902	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:1.0:0.0:0.0	17.208	0.86806	988	0.01987	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	946.83	39	chr19	1924204	.	C	G	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.184;DP=263;ExcessHet=0;FS=1.936;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.278;SOR=0.748	GT:AD:DP:GQ:PL	0/1:32,41:73:99:957,0,816	5	0	1	0
chr19	2936666	2936666	G	C	exonic	ZNF77	.	nonsynonymous SNV	ZNF77:NM_021217:exon3:c.C169G:p.Q57E	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00693220099052	0.0028	0.00159744	0.0036	0.0005	0.0029	0	0.0014	0.0057	0.0044	0.0001	0.0037063	573	154602	rs144419578	0.0030	0.0030	0.0030	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0005	0.0028	0.0018	0	0.0013	0.0068	0.0034	0.0034	0.0003	0.0024	0.0024	0.0024	0.0024	0.0036	0.0022	0.0021	0.0033	0.0031	0.0006	0.0154	0.0028	0.0020	0	0.0008	0.0340	0.0036	0.0052	0.0004	0.088	0.32296	T	0.804	0.04017	T	0.996	0.68779	D	0.772	0.56930	P	.	.	.	.	1	0.08975	N	-0.025	0.05070	N	0.83	0.47815	T	-1.34	0.33401	N	0.11	0.09631	-1.0275	0.21266	T	0.091	0.34792	T	9	0.004842311	0.00103	T	0.006932	0.18345	T	0.032	0.07718	.	.	0.528712057427	0.52518	0.01991533953600923	0.01944	0.232649209289	0.25802	0.251366317272	0.03914	T	0.054735	0.29808	T	-0.559301	0.00256	T	-0.571046	0.15353	T	0.014022111860232	0.00271	T	0.246775	0.03632	T	0.073814	0.16520	0.058379594	0.10776	0.073814	0.16520	0.058379594	0.10776	-4.961	0.36414	T	.	.	0.093	0.14062	B	.	.	0.458725	0.08286	5.031	0.16861997051125732	0.00469	0.03022	0.07900	N	AEFBI	0.028748	0.02589	N	-0.680920362626177	0.16566	0.8451485	-0.858840492905418	0.13075	0.6763025	1.53805989778188E-5	0.02871	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	2.52	1.47	0.21832	-0.154000	0.10116	-1.874000	0.04573	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1633:0.0:0.8367:0.0	5.320	0.15185	994	0.00715	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	0	0	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.009146	0.000000	0.08333	2062.83	38	chr19	2936666	.	G	C	2062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=352;ExcessHet=0;FS=4.828;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.186;SOR=0.422	GT:AD:DP:GQ:PL	0/1:73,80:153:99:2073,0,1751	5	0	1	0
chr19	4352988	4352988	G	A	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon4:c.G623A:p.R208Q,MPND:NM_001300862:exon4:c.G623A:p.R208Q,MPND:NM_032868:exon4:c.G623A:p.R208Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0106944429305	.	.	1.836e-05	0	8.738e-05	0	0	1.584e-05	0	0	1.29e-05	2	154602	rs764454313	2.464e-05	2.873e-05	2.722e-05	2.192e-05	5.051e-05	1.747e-05	1.517e-05	1.556e-05	1.3e-05	3.891e-05	5.051e-05	0	0	0	0	2.337e-05	8.222e-05	2.336e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.411	0.10447	T	0.376	0.18675	T	0.856	0.50336	P	0.16	0.37394	B	0.162462	0.17621	N	0.443854	1	0.08975	N	2.19	0.61577	M	.	.	.	-0.64	0.24244	N	0.179	0.31027	-1.0610	0.11508	T	0.035	0.14857	T	9	0.09201956	0.16167	T	0.010694	0.27515	T	0.041	0.10877	0.15	0.05339	0.361558571881	0.35766	0.3139532280034647	0.31308	0.724540930223	0.62398	0.652531385422	0.60346	T	0.010647	0.09594	T	-0.200023	0.20801	T	-0.525096	0.19778	T	0.19893990457058	0.20358	T	0.89801	0.65873	D	0.020136328	0.00562	0.02653221	0.00748	0.020136328	0.00562	0.02653221	0.00748	-3.463	0.19895	T	.	.	0.084	0.17275	B	.;.;.;.	.;.;.;.	3.946276	0.57785	23.9	0.99369244154356551	0.61368	0.09703	0.15399	N	AEFDGBCIJ	0.149544	0.27365	N	-0.516201160953502	0.21556	1.144856	-0.57713764892997	0.20089	1.080826	0.0639800227487528	0.15314	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	3.55	2.51	0.29435	1.313000	0.33191	8.060000	0.76395	0.487000	0.22268	0.825000	0.30060	1.000000	0.68203	0.508000	0.29198	0.131:0.0:0.869:0.0	6.724	0.22533	940	0.13648	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	419.83	37	chr19	4352988	.	G	A	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.87;DP=216;ExcessHet=0;FS=1.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.604;SOR=0.684	GT:AD:DP:GQ:PL	0/1:22,15:37:99:430,0,517	5	0	1	0
chr19	4847837	4847837	G	A	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon6:c.C688T:p.R230W,PLIN3:NM_001164194:exon6:c.C652T:p.R218W,PLIN3:NM_005817:exon6:c.C688T:p.R230W	.	433	1088	0	1	0	2	0.000918274	.	.	.	2236266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0577339097968	7.7e-05	.	1.688e-05	0	0	0	0	1.539e-05	0	6.13e-05	1.29e-05	2	154602	rs373825347	1.3e-05	1.3e-05	5.447e-06	2.063e-05	0.0002	8.32e-06	6.7e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	8.096e-06	0	0.0001	6.573e-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	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.364926	0.13614	N	0.694331	0.996557	0.22978	N	3.055	0.86842	M	2.83	0.10771	T	-3.5	0.68178	D	0.395	0.43610	-1.0815	0.07060	T	0.053	0.22423	T	10	0.19428468	0.35233	T	0.057734	0.67070	D	0.082	0.23913	.	.	0.263612267334	0.25957	0.3253328121639437	0.32446	0.475756608182	0.46738	0.426760911942	0.28765	T	0.159319	0.50271	T	-0.375879	0.03307	T	-0.518022	0.20495	T	0.721117073079627	0.41755	D	0.940006	0.79487	D	0.18667044	0.40086	0.2656364	0.52399	0.18667044	0.40086	0.2656364	0.52398	-8.753	0.66093	D	.	.	0.172	0.37746	B	.;.;.	.;.;.	4.781931	0.77512	26.7	0.99861736050233729	0.94002	0.53477	0.29381	D	AEFDBHCI	0.337874	0.43553	N	0.130261873675181	0.47878	3.007497	-0.0134462679190595	0.39107	2.313755	0.998824067395607	0.37755	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.41	-1.6	0.07977	0.292000	0.18766	2.652000	0.33822	0.634000	0.51959	0.636000	0.28050	1.000000	0.68203	0.949000	0.49496	0.0855:0.0963:0.3326:0.4857	4.415	0.10881	964	0.07719	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1238.83	53	chr19	4847837	.	G	A	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.754;DP=381;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.812;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,52:85:99:0|1:4847837_G_A:1249,0,822:4847837	5	0	1	0
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M,INSR:NM_000208:exon17:c.G3034A:p.V1012M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	29746	Monogenic_diabetes|not_specified|not_provided|Rabson-Mendenhall_syndrome|Bailey-Bloch_congenital_myopathy|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Leprechaunism_syndrome|Type_2_diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	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	0.014602	0.005051	0.008152	0.020468	0.000000	0.017241	0.012195	0.030303	0.08333	1476.83	35	chr19	7125507	.	C	T	1476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.1;DP=338;ExcessHet=0;FS=0.677;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.137;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,60:137:99:0|1:7125507_C_T:1487,0,3019:7125507	5	0	1	0
chr19	7375755	7375755	C	T	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon4:c.C311T:p.P104L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0285960479943	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210741810	3.696e-06	4.104e-06	3.501e-06	3.914e-06	0.0002	8.7e-07	5.8e-07	.	.	0	0	0	0	0	0.0002	1.087e-06	4.558e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.21056	.	.	.	.	.	.	.	0.12135735	0.23004	T	0.028596	0.51249	D	.	.	.	.	0.561408675542	0.55802	.	.	.	.	.	.	.	.	.	.	-0.245794	0.14619	T	-0.590843	0.13593	T	.	.	.	0.758824	0.38273	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24054	B	.	.	2.532318	0.32744	19.13	0.99558820732776454	0.71645	0.01726	0.05462	N	AEFDBI	0.057856	0.10811	N	.	.	.	.	.	.	0.996249163829018	0.34617	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.43	3.34	0.37357	0.549000	0.23037	2.175000	0.31084	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.556000	0.30317	0.0:0.6936:0.3064:0.0	9.033	0.35431	.	.	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	397.83	34	chr19	7375755	.	C	T	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.906;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-1.885;SOR=0.686	GT:AD:DP:GQ:PL	0/1:28,17:45:99:408,0,742	5	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	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	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.08333	124.83	21	chr19	7730841	.	T	A	124.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=120;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=2.09;SOR=0.799	GT:AD:DP:GQ:PL	0/1:8,5:13:99:135,0,226	5	0	1	0
chr19	8731967	8731967	G	T	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.G939T:p.M313I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000670875956839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	0	4.134e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.358	0.17064	T	0.005	0.12996	B	0.003	0.08700	B	0.511200	0.05148	N	1.300290	1	0.08975	N	0.345	0.11182	N	7.21	0.00433	T	-0.48	0.15379	N	0.031	0.00770	-0.9793	0.35162	T	0.001	0.00287	T	10	0.06644678	0.09113	T	6.71E-4	0.00383	T	0.026	0.05648	0.411	0.44723	0.0401082797425	0.02173	0.13421969035939177	0.13345	0.0319776795166	0.03322	0.57760232687	0.49749	T	0.018868	0.15137	T	-0.304949	0.08201	T	-0.675814	0.07241	T	0.0379663333296776	0.03325	T	0.275372	0.04709	T	0.124502234	0.29209	0.106338285	0.25581	0.124502234	0.29209	0.106338285	0.25580	-2.467	0.05560	T	.	.	0.148	0.32709	B	.;.	.;.	0.092611	0.04961	1.526	0.59238220062341407	0.06177	0.04692	0.10377	N	AEFBHCI	0.025041	0.01649	N	-1.12127173724264	0.06266	0.2879699	-1.16385786845493	0.06523	0.3142312	7.81197852362768E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.21	-0.392	0.11822	0.014000	0.13228	.	.	0.594000	0.32500	0.000000	0.06391	0.013000	0.20296	0.003000	0.05239	0.1248:0.4192:0.456:0.0	5.131	0.14241	.	.	.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1384.83	35	chr19	8731967	.	G	T	1384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=311;ExcessHet=0;FS=2.885;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.782;SOR=0.407	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1395,0,1574	5	0	1	0
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	53.0	80	chr19	8888087	.	A	G	53.0	.	AC=2;AF=0.5;AN=4;BaseQRankSum=3.51;DP=398;ExcessHet=0.4139;FS=5.149;MLEAC=2;MLEAF=0.5;MQ=59.61;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.121;SOR=1.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,5:56:56:0|1:8888087_A_G:56,0,2100:8888087	0	0	2	4
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,44:262:99:0|1:8888826_T_*:1293,0,7634:8888826	1	0	5	0
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	82.7	142	chr19	8908608	.	T	C	82.7	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.17;DP=723;ExcessHet=0.4139;FS=44.315;MLEAC=1;MLEAF=0.125;MQ=59.41;MQRankSum=-7.528;QD=0.37;ReadPosRankSum=1.08;SOR=5.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,7:104:2:0|1:8908590_A_G:2,0,4052:8908590	2	0	2	2
chr19	8908619	8908619	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.T37592C:p.F12531S	.	425	1082	15	0	0	15	0.00688389	.	.	.	3192351	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.019	0.00202408868933	8.3e-05	.	8.342e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs377069963	3.422e-06	3.42e-06	1.362e-06	5.503e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.658e-05	0	1.352e-05	0.0001	1.315e-05	1.391e-05	2.978e-05	2.25e-06	8.4e-07	4.94e-06	1.85e-06	0	0	0	0	0	0	0	2.978e-05	0	0	0.067	0.35918	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.61	0.01851	T	-0.17	0.09627	N	0.101	0.08366	-0.8956	0.48427	T	0.002	0.00615	T	8	0.04995814	0.04658	T	0.002024	0.03668	T	0.019	0.03383	.	.	0.146414634003	0.14194	0.14281700225897295	0.14204	.	.	0.216673746705	0.01127	T	.	.	.	-0.366936	0.03752	T	-0.764855	0.02941	T	0.0528477553212313	0.05994	T	0.0760924	0.00560	T	.	.	.	.	.	.	.	.	2.702	0.00027	T	.	.	0.052	0.00225	B	.	.	0.670042	0.10384	7.110	0.39831540764915757	0.02773	0.00011	0.00159	N	AEFBI	0.011428	0.00101	N	-1.71979816171027	0.00774	0.03342962	-1.72525038677741	0.01030	0.04621079	2.48205843339707E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.46	0.06089	-0.340000	0.07868	.	.	-0.516000	0.04988	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.6127:0.0:0.3873:0.0	5.188	0.14517	934	0.15400	.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.3333	186.99	173	chr19	8908619	.	A	G	186.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.77;DP=783;ExcessHet=0.4139;FS=45.799;MLEAC=3;MLEAF=0.5;MQ=58.14;MQRankSum=-6.014;QD=0.81;ReadPosRankSum=1.98;SOR=4.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,8:108:30:0|1:8908590_A_G:30,0,4109:8908590	1	0	2	3
chr19	8980773	8980773	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G366T:p.M122I	.	427	1092	3	0	0	3	0.00137174	.	.	.	2811541	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.000805683190073	0.0053	0.00139776	0.0048	0.0011	0.0018	0	0.0030	0.0077	0.0033	0.0012	0.0050905	787	154602	rs149255523	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0082	0.0081	0.0012	0.0023	0.0002	2.519e-05	0.0033	0.0012	0.0083	0.0062	0.0007	0.0040	0.0040	0.0045	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0013	0	0	0.0022	0	0.0073	0.0024	0.0008	0.036	0.43393	D	0.254	0.23433	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.46	0.02102	T	-0.46	0.14978	N	0.046	0.01825	-0.9145	0.46285	T	0.003	0.00929	T	8	0.005569577	0.00123	T	8.06E-4	0.00629	T	0.008	0.00669	0.259	0.20159	0.0297737177859	0.01360	0.041948953364198995	0.04139	.	.	0.252386391163	0.04022	T	.	.	.	-0.718011	0.00028	T	-0.78987	0.02168	T	0.000680259322392347	0.00006	T	0.241376	0.03476	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.170	0.37407	B	.	.	-0.105336	0.03609	0.710	0.3625406590914334	0.02322	0.00911	0.03557	N	AEFBI	0.028473	0.02516	N	-1.30581530448491	0.03608	0.1614667	-1.41003759523337	0.03151	0.1464158	1.53248552172924E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.74	0.07622	-1.068000	0.03558	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.4256:0.3244:0.2499	2.442	0.04223	917	0.20147	.	.	.	.	.	.	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	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1756.83	43	chr19	8980773	.	C	A	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.973;DP=311;ExcessHet=0;FS=9.231;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-1.951;SOR=0.249	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1767,0,1459	5	0	1	0
chr19	9936325	9936327	CAG	-	exonic	OLFM2	.	nonframeshift deletion	OLFM2:NM_058164:exon1:c.40_42del:p.L14del	.	443	1064	15	0	0	15	0.00699953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100	.	0.0172	0.0215	0	0	.	0.0182	0.0259	0.0171	0.0013066	202	154602	rs781571404	0.0009	0.0089	0.0008	0.0009	0.0030	0.0008	0.0008	0.0025	0.0023	0.0007	0.0030	0.0016	0.0027	0.0012	0.0008	0.0007	0.0011	0.0018	3.317e-05	0.0002	2.59e-05	4.08e-05	4.44e-05	1.27e-05	8.05e-06	1.179e-05	6.27e-06	0	0	0	0	0	0.0002	0	4.44e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017113	0.007042	0.013699	0.024823	0.000000	0.014286	0.023148	0.012658	0.08333	37.79	19	chr19	9936324	.	ACAG	A	37.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.7;ReadPosRankSum=1.57;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,2:14:48:48,0,478	5	0	1	0
chr19	10137146	10137146	A	C	exonic	DNMT1	.	nonsynonymous SNV	DNMT1:NM_001318730:exon36:c.T4380G:p.H1460Q,DNMT1:NM_001379:exon36:c.T4380G:p.H1460Q,DNMT1:NM_001130823:exon37:c.T4428G:p.H1476Q,DNMT1:NM_001318731:exon37:c.T4065G:p.H1355Q	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	194159	not_specified|not_provided|Hereditary_sensory_neuropathy-deafness-dementia_syndrome|Inborn_genetic_diseases|DNMT1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013584,MedGen:C3279885,OMIM:614116,Orphanet:456318|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.247	0.0602479522201	0.0025	0.000998403	0.0026	0.0005	0.0032	0	0.0003	0.0040	0.0047	0.0001	0.0021604	334	154602	rs142647321	0.0027	0.0027	0.0028	0.0027	0.0030	0.0026	0.0026	0.0026	0.0026	0.0007	0.0024	0.0211	0	0.0001	0.0030	0.0027	0.0038	0.0002	0.0025	0.0025	0.0025	0.0025	0.0033	0.0023	0.0022	0.0029	0.0028	0.0006	0	0.0030	0.0225	0	0.0002	0.0034	0.0033	0.0028	0.0002	0.051	0.39334	T	0.123	0.35582	T	0.046	0.21875	B	0.056	0.26147	B	0.007878	0.31148	N	0.335009	0.993127	0.23767	N	2.165	0.60562	M	-1.73	0.83327	D	-2.71	0.57762	D	0.154	0.15888	-0.7583	0.57498	T	0.303	0.67399	T	10	0.0046668053	0.00098	T	0.060248	0.67936	D	0.247	0.55478	0.368	0.37687	0.796646849005	0.79475	0.8848082987999397	0.88448	1.05796501594	0.76374	0.465018987656	0.33997	T	0.894285	0.97877	D	-0.462004	0.00955	T	-0.436009	0.29256	T	0.00945126436503104	0.00122	T	0.774523	0.40643	T	0.2536969	0.48393	0.2571321	0.51424	0.3728357	0.58794	0.18849897	0.42143	-5.061	0.37495	T	.	.	0.155	0.34992	B	.;.	.;.	-0.791036	0.01125	0.052	0.934115190988972	0.23174	0.18626	0.20337	N	AEFDBCI	0.183977	0.31130	N	-1.21957005796701	0.04717	0.2134668	-1.37202871752264	0.03553	0.1659638	0.998250273507267	0.36648	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	-8.83	0.00696	-1.012000	0.03759	-9.728000	0.00784	-1.292000	0.01254	0.007000	0.17678	0.000000	0.08366	0.526000	0.29613	0.5676:0.1983:0.2341:0.0	8.154	0.30317	923	0.18507	.;.	.	.	.	.	.	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	0.003543	0.000000	0.005450	0.000000	0.000000	0.008621	0.006173	0.000000	0.08333	1870.83	41	chr19	10137146	.	A	C	1870.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=315;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.005;SOR=0.58	GT:AD:DP:GQ:PL	0/1:55,65:120:99:1881,0,1361	5	0	1	0
chr19	11867704	11867704	-	T	exonic	ZNF439	.	frameshift insertion	ZNF439:NM_001348724:exon3:c.227_228insT:p.P77Tfs*3,ZNF439:NM_001348725:exon3:c.227_228insT:p.P77Tfs*3,ZNF439:NM_152262:exon3:c.635_636insT:p.P213Tfs*3,ZNF439:NM_001348718:exon4:c.659_660insT:p.P221Tfs*3,ZNF439:NM_001348719:exon4:c.650_651insT:p.P218Tfs*3,ZNF439:NM_001348721:exon4:c.596_597insT:p.P200Tfs*3,ZNF439:NM_001348722:exon4:c.494_495insT:p.P166Tfs*3,ZNF439:NM_001348720:exon5:c.596_597insT:p.P200Tfs*3,ZNF439:NM_001348723:exon5:c.494_495insT:p.P166Tfs*3	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	7.415e-05	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs748808041	6.909e-05	6.909e-05	6.398e-05	7.425e-05	0.0003	5.78e-05	5.391e-05	6.147e-05	5.653e-05	2.987e-05	0	0	0	0	0.0003	7.464e-05	0.0002	3.478e-05	7.226e-05	7.223e-05	6.422e-05	8.068e-05	0.0002	3.97e-05	3.127e-05	3.761e-05	2.574e-05	4.823e-05	0	0.0001	0	0	0	0	8.818e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2830.79	34	chr19	11867704	.	G	GT	2830.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=344;ExcessHet=0;FS=9.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-0.429;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,76:170:99:0|1:11867704_G_GT:2841,0,3709:11867704	5	0	1	0
chr19	13090304	13090304	G	A	exonic	NFIX	.	nonsynonymous SNV	NFIX:NM_001365984:exon9:c.G1405A:p.A469T,NFIX:NM_001271043:exon10:c.G1432A:p.A478T,NFIX:NM_001365902:exon10:c.G1408A:p.A470T,NFIX:NM_001378404:exon10:c.G1384A:p.A462T,NFIX:NM_001378405:exon10:c.G1456A:p.A486T	Marshall-Smith syndrome, Autosomal dominant;Sotos syndrome 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	656511	not_provided|Marshall-Smith_syndrome|Malan_overgrowth_syndrome	MedGen:C3661900|MONDO:MONDO:0011244,MedGen:C0265211,OMIM:602535,Orphanet:561|MONDO:MONDO:0013885,MedGen:C3553660,OMIM:614753,Orphanet:420179	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0132192271665	8.1e-05	.	2.492e-05	0	8.661e-05	0.0001	0	0	0	6.068e-05	1.94e-05	3	154602	rs372257657	1.505e-05	1.573e-05	1.906e-05	1.1e-05	0.0002	9.85e-06	8.42e-06	0.0001	8.675e-05	0.0002	6.709e-05	0.0001	0	0	0	3.598e-06	3.313e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0003	6.511e-05	5.322e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	0.039612	0.24151	N	0.414562	1	0.81001	D	0.175	0.09039	N	0.84	0.47477	T	.	.	.	0.084	0.07398	-1.0329	0.19522	T	0.046	0.19720	T	9	0.06777325	0.09490	T	0.013219	0.32452	T	.	.	.	.	0.712203551161	0.70968	.	.	.	.	0.506899118423	0.39788	T	0.06339	0.32163	T	-0.176854	0.24204	T	-0.255146	0.49307	T	0.0894372835755348	0.11150	T	0.838616	0.51177	T	0.03958305	0.05492	0.043989845	0.05599	0.03958305	0.05492	0.043989845	0.05599	-3.005	0.10235	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	2.732422	0.35768	19.98	0.99078303118175926	0.51906	0.60354	0.31171	D	AEFGBI	0.066383	0.12997	N	-0.356627542538136	0.27029	1.479791	-0.275554741383072	0.28906	1.615328	0.99999376422692	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.37	2.08	0.26079	0.092000	0.14905	0.104000	0.14688	0.674000	0.70861	0.972000	0.34453	0.644000	0.25929	1.000000	0.97212	0.1285:0.0:0.4218:0.4498	4.578	0.11638	798	0.45050	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	933.83	37	chr19	13090304	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.677;DP=261;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.756;SOR=0.588	GT:AD:DP:GQ:PL	0/1:39,41:80:99:944,0,915	5	0	1	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.3	108.56	41	chr19	13261453	.	C	T	108.56	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.346;DP=260;ExcessHet=1.383;FS=142.291;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.05;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:20:0|1:13261450_C_T:20,0,630:13261450	2	0	3	1
chr19	13932007	13932007	C	T	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001370095:exon9:c.G1552A:p.E518K	.	812	706	3	1	0	5	0.00352858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0064	0	0.0109	0	0	0.0079	0.0714	0.0088	0.0011061	171	154602	rs140715588	0.0080	0.0061	0.0081	0.0079	0.0127	0.0078	0.0078	0.0095	0.0084	0.0010	0.0034	0.0131	0.0002	0.0020	0.0127	0.0087	0.0069	0.0008	0.0060	0.0060	0.0065	0.0055	0.0091	0.0057	0.0055	0.0085	0.0083	0.0019	0	0.0075	0.0147	0	0.0026	0.0068	0.0091	0.0043	0.0006	.	.	.	0.104	0.38160	T	.	.	.	.	.	.	.	.	.	.	0.997668	0.22562	N	.	.	.	-2.66	0.90272	D	.	.	.	.	.	.	.	.	.	.	.	.	0.01039651	0.00232	T	.	.	.	.	.	.	.	0.860385415557	0.85903	.	.	.	.	.	.	.	.	.	.	-0.13744	0.30297	T	0.0347875	0.72589	D	.	.	.	0.659134	0.26825	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.58399	A	.;.	.;.	2.395404	0.30769	18.54	0.9290394207589846	0.22459	0.06614	0.12630	N	AEFDBI	0.143496	0.26621	N	.	.	.	.	.	.	0.040014604755334	0.14419	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	4.84	2.32	0.27895	0.392000	0.20527	2.177000	0.31099	0.549000	0.26987	0.002000	0.15269	0.977000	0.30130	0.980000	0.58198	0.0:0.6838:0.3162:0.0	13.654	0.61801	934	0.15400	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	594.83	42	chr19	13932007	.	C	T	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.616;DP=222;ExcessHet=0;FS=4.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.508;SOR=1.18	GT:AD:DP:GQ:PL	0/1:20,24:44:99:605,0,445	5	0	1	0
chr19	14469358	14469358	G	A	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon16:c.G1994A:p.R665Q,PKN1:NM_213560:exon16:c.G2012A:p.R671Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.173511069959	.	0.000199681	2.498e-05	0	0	0.0002	0	1.504e-05	0	0	2.59e-05	4	154602	rs549209369	1.311e-05	1.505e-05	1.231e-05	1.391e-05	0.0003	8.38e-06	6.76e-06	6.129e-05	2.535e-05	9.015e-05	6.764e-05	0	0.0001	0	0.0003	4.536e-06	1.673e-05	1.167e-05	2.639e-05	2.629e-05	2.582e-05	2.699e-05	6.579e-05	8.17e-06	5.16e-06	1.174e-05	6.26e-06	0	0	6.579e-05	0	0	0	0	4.422e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.946	0.53363	P	0.375	0.43710	B	0.000004	0.62929	U	0.000000	0.64608	0.32920	D	1.31	0.32734	L	-0.1	0.64264	T	-3.79	0.71639	D	0.858	0.86511	-0.6636	0.62117	T	0.154	0.48481	T	10	0.8182386	0.81045	D	0.173511	0.85017	D	0.316	0.63799	0.669	0.80703	0.643029370633	0.64007	0.7677684146066278	0.76725	1.13589133381	0.78785	0.81090337038	0.83630	D	0.287762	0.66056	T	-0.127008	0.31982	T	-0.155786	0.58729	T	0.789791107177734	0.45675	D	0.986501	0.95398	D	0.82539415	0.85585	0.71465737	0.83160	0.82539415	0.85587	0.71465737	0.83161	-13.033	0.89730	D	.	.	0.267	0.51165	B	.;.	.;.	5.901532	0.94001	33	0.99941076293834408	0.99797	0.93006	0.57088	D	AEFDGBCI	0.898611	0.84210	D	0.216366210691695	0.51991	3.376373	0.207211633981209	0.50249	3.218771	0.964755032039512	0.28782	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.45	2.4	0.28568	9.381000	0.96594	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.1174:0.0:0.8826:0.0	8.654	0.33217	964	0.07719	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	680.83	38	chr19	14469358	.	G	A	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=229;ExcessHet=0;FS=3.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.729;SOR=1.424	GT:AD:DP:GQ:PL	0/1:32,24:56:99:691,0,797	5	0	1	0
chr19	15885981	15885981	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon9:c.G1058A:p.R353H	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0600389816695	0.0006	.	0.0004	0.0003	0	0.0001	0	0.0005	0	0.0005	0.0003363	52	154602	rs138250724	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0001	6.708e-05	0.0002	0.0002	3.744e-05	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0003	0	0.0001	0.0003	0.0002	0	0	0.0005	0.0005	0.0004	0.036	0.43393	D	0.043	0.49942	D	0.068	0.23728	B	0.064	0.27215	B	0.646165	0.10555	U	0.785759	0.743249	0.33846	D	2.91	0.84121	M	-0.55	0.71068	T	-3.63	0.69714	D	0.367	0.43514	-0.6323	0.63473	T	0.321	0.68969	T	10	0.21645531	0.38229	T	0.060039	0.67869	D	0.185	0.45933	.	.	0.729987623446	0.72758	0.3679043539962289	0.36704	0.217802193596	0.24309	0.28295147419	0.07907	T	0.367621	0.73266	T	-0.313721	0.07424	T	-0.350023	0.39203	T	0.0397621813788042	0.03647	T	0.819518	0.47762	T	0.20434628	0.42542	0.21911511	0.46639	0.20434628	0.42542	0.21911511	0.46638	-9.062	0.68095	D	.	.	0.079	0.07130	B	.;.	.;.	2.567354	0.33263	19.29	0.98441681649001544	0.41519	0.14143	0.18246	N	AEFGBCI	0.176571	0.30378	N	-0.435270368416672	0.24241	1.307598	-0.493777774170751	0.22325	1.211995	2.94100043432278E-4	0.06406	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.63	2.63	0.30420	0.538000	0.22869	.	.	0.465000	0.21702	0.011000	0.18532	0.000000	0.08366	0.038000	0.14061	0.0:0.8374:0.0:0.1626	5.463	0.15923	976	0.04745	.;.	.	.	.	.	.	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	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1907.83	34	chr19	15885981	.	C	T	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=453;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.404;SOR=0.721	GT:AD:DP:GQ:PL	0/1:81,76:157:99:1918,0,1946	5	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	1/1:0,16:16:76:1017,80,0	1	1	4	0
chr19	17487313	17487313	G	T	exonic	SLC27A1	.	nonsynonymous SNV	SLC27A1:NM_198580:exon3:c.G702T:p.Q234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0187767512869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.122	0.35710	T	0.038	0.21002	B	0.018	0.18489	B	0.186289	0.16967	N	0.629145	1	0.08975	N	1.19	0.30124	L	0.78	0.49358	T	-0.84	0.22944	N	0.257	0.29081	-1.0354	0.18731	T	0.077	0.30889	T	10	0.108511806	0.20203	T	0.018777	0.40954	T	0.008	0.00669	0.373	0.38503	0.465633601861	0.46191	0.4281933782641793	0.42736	0.361961458071	0.37848	0.364443480968	0.20031	T	0.146187	0.48367	T	-0.306082	0.08097	T	-0.677442	0.07140	T	0.0506296567618847	0.05611	T	0.659134	0.27384	T	0.05332852	0.10075	0.046873327	0.06630	0.05332852	0.10074	0.046873327	0.06629	-3.682	0.19052	T	.	.	0.097	0.18206	B	.;.	.;.	0.810196	0.11810	8.382	0.95064941666665392	0.26098	0.20903	0.21210	N	AEFDGBI	0.098667	0.19877	N	-0.990682110362759	0.08802	0.4141073	-1.04057918861432	0.08904	0.4401615	0.717807966460773	0.22895	0.631981	0.41245	0	0.633656	0.55848	0	0.779548	0.98927	0	0.699875	0.68795	0	.	.	4.8	-1.19	0.09091	-0.190000	0.09612	0.776000	0.21438	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.4787:0.0:0.5213:0.0	7.640	0.27455	940	0.13648	AMP-dependent synthetase/ligase;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	736.09	33	chr19	17487313	.	G	T	736.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.511;DP=208;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.14;SOR=0.599	GT:AD:DP:GQ:PL	0/1:18,12:30:99:294,0,450	5	0	1	0
chr19	17843141	17843141	G	C	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon5:c.C452G:p.P151R	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1486	34	1	0	36	0.0119681	.	.	.	45085	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.446	.	0.0052	0.00179712	0.0065	0.0011	0.0023	0	0.0133	0.0088	0.0058	0.0045	0.0053557	828	154602	rs55778349	0.0079	0.0079	0.0080	0.0078	0.0141	0.0078	0.0077	0.0116	0.0107	0.0012	0.0023	0.0086	0	0.0097	0.0141	0.0088	0.0077	0.0038	0.0064	0.0064	0.0061	0.0068	0.0099	0.0061	0.0060	0.0093	0.0091	0.0018	0.0044	0.0026	0.0084	0.0002	0.0107	0.0240	0.0099	0.0085	0.0029	0.074	0.37326	T	0.132	0.36101	T	0.001	0.07471	B	0.006	0.12133	B	0.744593	0.06448	N	1.125910	1	0.08975	N	1.59	0.40313	L	-0.86	0.74477	T	-2.74	0.58248	D	0.195	0.21969	-0.7213	0.59399	T	0.229	0.59472	T	10	0.009618759	0.00217	T	.	.	.	0.446	0.74797	.	.	0.978166879375	0.97792	0.7780878081368802	0.77758	0.510838577098	0.49183	0.312682539225	0.12313	T	0.559147	0.85211	D	-0.269336	0.11830	T	-0.152125	0.59056	T	0.0128600570458127	0.00220	T	0.363264	0.08416	T	0.1308466	0.30518	0.13608478	0.32565	0.1394153	0.32205	0.13426805	0.32177	-10.087	0.74431	D	0.11841599934226753	0.10923	0.077	0.06341	B	.;.;.	.;.;.	0.582550	0.09512	6.287	0.86540239096222138	0.16605	0.04468	0.10077	N	AEFDGBCI	0.110156	0.21854	N	-0.990088813637014	0.08814	0.4147538	-1.11195775571944	0.07471	0.3635221	0.999999142195806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608004	0.38603	0	0.604944	0.38103	0	.	.	4.92	-4.59	0.03158	-0.433000	0.07017	2.244000	0.31634	0.522000	0.23927	0.000000	0.06391	0.036000	0.21445	0.004000	0.06068	0.0:0.1092:0.2431:0.6477	10.713	0.45194	958	0.09170	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;.	FCHO1	Artery_Tibial	.	.	.	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	1	0	0.014170	0.005155	0.017711	0.020588	0.000000	0.008621	0.021605	0.000000	0.08333	284.83	33	chr19	17843141	.	G	C	284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.833;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=0.327;SOR=0.859	GT:AD:DP:GQ:PL	0/1:27,16:43:99:295,0,773	5	0	1	0
chr19	19258190	19258190	T	C	exonic	HAPLN4	.	nonsynonymous SNV	HAPLN4:NM_023002:exon5:c.A836G:p.K279R	.	428	1056	34	4	0	42	0.0194986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00299521	0.0143	0.0015	0.0022	0	0.0045	0.0025	0.0116	0.0392	0.0021539	333	154602	rs201414204	0.0016	0.0017	0.0011	0.0022	0.0194	0.0016	0.0016	0.0185	0.0182	6.437e-05	0.0006	0.0031	5.473e-05	0.0001	0.0114	0.0004	0.0022	0.0194	0.0011	0.0011	0.0010	0.0012	0.0133	0.0009	0.0009	0.0107	0.0097	0.0001	0	0.0018	0.0026	0.0002	0.0005	0	0.0007	0.0014	0.0133	0.271	0.15984	T	0.526	0.10245	T	0.025	0.19245	B	0.021	0.19346	B	0.000003	0.62929	N	0.058018	0.894269	0.36022	D	0.965	0.23975	L	2.95	0.09635	T	-0.79	0.21860	N	0.369	0.41063	-0.9904	0.32500	T	0.017	0.06759	T	10	0.0058834255	0.00132	T	.	.	.	0.086	0.25016	.	.	0.32714864917	0.32323	0.4739718359760729	0.47316	0.620021856385	0.56332	0.927210330963	0.98822	D	0.014104	0.12071	T	-0.556225	0.00267	T	-0.556818	0.16677	T	0.0116839927628231	0.00179	T	0.659534	0.26859	T	0.20082027	0.42070	0.1535322	0.36074	0.20082027	0.42070	0.1535322	0.36073	-1.381	0.01537	T	.	.	0.133	0.28721	B	.	.	3.465754	0.48328	22.6	0.97823274546563888	0.36207	0.69443	0.34190	D	AEFDBI	0.354650	0.44665	N	-0.392574730425714	0.25732	1.399093	-0.223502104458518	0.30696	1.730541	0.0180411344275258	0.13016	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	5.630000	0.67480	.	.	0.515000	0.23462	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	11.792	0.51345	814	0.42100	Link domain|Link domain|Link domain	.	.	.	.	.	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	0.006639	0.000000	0.002740	0.005952	0.000000	0.017857	0.006211	0.015267	0.08333	588.83	33	chr19	19258190	.	T	C	588.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=232;ExcessHet=0;FS=1.036;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.32;SOR=0.511	GT:AD:DP:GQ:PL	0/1:32,24:56:99:599,0,869	5	0	1	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	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	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.08333	1935.83	36	chr19	31278387	.	T	C	1935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.595;DP=368;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.318;SOR=0.656	GT:AD:DP:GQ:PL	0/1:55,70:125:99:1946,0,1582	5	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	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	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.08333	74.84	84	chr19	32999594	.	C	T	74.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.187;DP=446;ExcessHet=0;FS=3.457;MLEAC=1;MLEAF=0.083;MQ=53.78;MQRankSum=-4.015;QD=1.36;ReadPosRankSum=-1.84;SOR=1.089	GT:AD:DP:GQ:PL	0/1:48,7:55:85:85,0,1497	5	0	1	0
chr19	34221713	34221713	G	A	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001384429:exon7:c.G1100A:p.R367Q,LSM14A:NM_001384435:exon7:c.G983A:p.R328Q,LSM14A:NM_001384436:exon7:c.G983A:p.R328Q,LSM14A:NM_001384423:exon8:c.G1220A:p.R407Q,LSM14A:NM_001384424:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384425:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384426:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384427:exon8:c.G1160A:p.R387Q,LSM14A:NM_001384428:exon8:c.G1160A:p.R387Q,LSM14A:NM_001114093:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384420:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384421:exon9:c.G1337A:p.R446Q,LSM14A:NM_001384422:exon9:c.G1310A:p.R437Q,LSM14A:NM_001384430:exon9:c.G1061A:p.R354Q,LSM14A:NM_001384433:exon9:c.G1022A:p.R341Q,LSM14A:NM_001384434:exon9:c.G1022A:p.R341Q,LSM14A:NM_001384437:exon9:c.G839A:p.R280Q,LSM14A:NM_015578:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384431:exon10:c.G1022A:p.R341Q,LSM14A:NM_001384432:exon10:c.G1022A:p.R341Q	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0005	0.0147764	0.0089	0.0004	0.0474	0.0531	0	0.0005	0.0066	0.0017	0.0083246	1287	154602	rs2274896	0.0033	0.0033	0.0035	0.0030	0.0423	0.0032	0.0031	0.0406	0.0400	0.0003	0.0400	3.827e-05	0.0423	1.873e-05	0.0002	0.0008	0.0028	0.0026	0.0044	0.0044	0.0039	0.0049	0.0480	0.0041	0.0040	0.0431	0.0412	0.0005	0	0.0209	0	0.0480	0	0	0.0009	0.0033	0.0021	0.0	0.91255	D	0.096	0.39340	T	0.998	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	2.56858e-07	0.58761	P	2.32	0.66415	M	1.54	0.30401	T	-0.86	0.23372	N	0.714	0.72656	-1.1009	0.03984	T	0.029	0.12234	T	9	0.015991926	0.00336	T	.	.	.	0.313	0.63482	.	.	.	.	0.6703764640021166	0.66975	1.63678020558	0.89322	0.600639522076	0.52994	T	0.011	0.09944	T	-0.258499	0.13077	T	-0.0985312	0.63512	T	0.0424174563124291	0.04130	T	0.886611	0.61335	D	0.3527986	0.57283	0.38844672	0.63689	0.3527986	0.57283	0.38844672	0.63689	-10.301	0.75694	D	.	.	0.277	0.53190	B	.;.;.	.;.;.	5.736247	0.93305	33	0.9995593937815116	0.99975	0.99758	0.99249	D	AEFDBI	0.921163	0.89423	D	0.887442091449457	0.91132	10.73069	0.910297442447601	0.96006	14.19961	0.999999999999904	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	9.540000	0.97163	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.621	0.99492	945	0.12563	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	743.83	48	chr19	34221713	.	G	A	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=234;ExcessHet=0;FS=1.109;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.05;SOR=0.892	GT:AD:DP:GQ:PL	0/1:23,26:49:99:754,0,558	5	0	1	0
chr19	34352856	34352856	C	0	exonic	GARRE1	.	.	.	.	472	317	432	294	7	1027	0.616687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5156.83	40	chr19	34352856	.	C	*	5156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.052;DP=319;ExcessHet=11.5949;FS=6.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.678;SOR=0.418	GT:AD:DP:GQ:PL	0/1:14,25:39:99:1005,0,511	5	0	1	0
chr19	35511468	35511468	-	CCACTGCTGCTGCCACTGCTGCTG	exonic	DMKN	.	nonframeshift insertion	DMKN:NM_001126057:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001126058:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001190348:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001190349:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_033317:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG	.	475	755	3	0	289	292	0.00198282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0003	0.0005	0.0036	0	0.0002	0	0.0157	0.0010543	163	154602	rs773012007	0.0021	0.0039	0.0016	0.0026	0.0273	0.0020	0.0020	0.0251	0.0243	0.0013	0.0009	5.729e-05	0.0273	0.0003	0.0010	0.0009	0.0020	0.0173	0.0031	0.0032	0.0030	0.0031	0.0266	0.0028	0.0026	0.0215	0.0196	0.0029	0	0.0007	0	0.0139	0	0	0.0024	0.0017	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2529.4	60	chr19	35511468	.	A	ACCACTGCTGCTGCCACTGCTGCTG	2529.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=363;ExcessHet=0.7136;FS=2.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.484;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,8:51:99:.:.:154,0,1686:.	5	0	1	0
chr19	35849354	35849354	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon7:c.G722A:p.G241E	Nephrotic syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1940737	Finnish_congenital_nephrotic_syndrome|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.427	0.0923642841533	.	.	4.39e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs774808086	3.014e-05	3.01e-05	6.816e-06	5.371e-05	0.0005	2.285e-05	2.035e-05	0.0003	0.0003	0	0	0	0	0	0	2.699e-06	3.321e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.015	0.61437	D	0.018	0.59732	D	0.967	0.56408	D	0.546	0.49068	P	0.040066	0.24099	N	0.473415	0.651075	0.30533	N	1.84	0.48285	L	-1.95	0.85003	D	-5.82	0.88289	D	0.646	0.67218	0.123	0.84590	D	0.546	0.83317	D	10	0.6704592	0.70682	D	0.092364	0.75879	D	0.427	0.73445	0.391	0.41443	0.878039913388	0.87685	0.6638083691148416	0.66317	0.226509947091	0.25203	0.631253600121	0.57324	T	0.707527	0.91631	D	-0.130261	0.31455	T	-0.0948856	0.63790	T	0.343732923269272	0.26771	T	0.709529	0.32034	T	0.5707976	0.71105	0.56636673	0.74900	0.5707976	0.71106	0.56636673	0.74900	-7.112	0.54846	T	0.10574174463086344	0.08419	0.126	0.26825	B	.;.	.;.	3.323363	0.45721	22.2	0.99514303194637965	0.68858	0.62235	0.31720	D	AEFBI	0.351727	0.44473	N	0.364589942735047	0.59514	4.131452	0.356458741296176	0.58898	4.063365	0.195682555521474	0.18055	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	2.449000	0.44592	3.953000	0.40689	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.108000	0.18652	0.0:1.0:0.0:0.0	13.646	0.61754	796	0.45353	.;.	.	.	.	.	.	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	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	514.83	40	chr19	35849354	.	C	T	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.622;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.025;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,18:41:99:525,0,650	5	0	1	0
chr19	36039624	36039624	A	C	exonic	THAP8	.	nonsynonymous SNV	THAP8:NM_001331102:exon3:c.T371G:p.V124G,THAP8:NM_001331103:exon3:c.T242G:p.V81G,THAP8:NM_001331104:exon3:c.T242G:p.V81G,THAP8:NM_152658:exon3:c.T371G:p.V124G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0448977889489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.377e-07	6.841e-07	0	1.505e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.075	0.42794	T	0.063	0.23376	B	0.026	0.20792	B	0.000194	0.00507	N	11.898100	0.999999	0.28099	N	0.345	0.11182	N	-2.37	0.88220	D	-0.25	0.11008	N	0.167	0.17691	-0.5336	0.67405	T	0.441	0.77940	T	10	0.07907006	0.12676	T	0.044898	0.61715	D	0.160	0.41473	0.175	0.08135	0.547168864562	0.54372	0.28450443541609305	0.28363	0.086034435978	0.09718	0.43414697051	0.29776	T	0.008777	0.08035	T	-0.101977	0.36098	T	-0.384259	0.35224	T	0.0928137302398682	0.11548	T	0.221078	0.02846	T	0.05281784	0.09907	0.057438474	0.10441	0.05281784	0.09906	0.057438474	0.10440	-3.166	0.12070	T	.	.	0.082	0.08512	B	.	.	0.852301	0.12243	8.788	0.32801298745267349	0.01920	0.02634	0.07228	N	AEFBI	0.037301	0.05108	N	-1.11353620812872	0.06401	0.2945546	-1.09012314294399	0.07894	0.3858355	0.00455628455009291	0.10614	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.54	2.21	0.27042	0.220000	0.17445	0.003000	0.13321	-0.750000	0.03597	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2219:0.0:0.5751:0.2029	3.390	0.06862	628	0.65206	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	583.83	35	chr19	36039624	.	A	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=206;ExcessHet=0;FS=4.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.736;SOR=0.74	GT:AD:DP:GQ:PL	0/1:16,21:37:99:594,0,451	5	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	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	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.08333	584.83	37	chr19	36720655	.	T	C	584.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=246;ExcessHet=0;FS=3.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.486;SOR=1.339	GT:AD:DP:GQ:PL	0/1:32,23:55:99:595,0,874	5	0	1	0
chr19	39827325	39827325	C	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon8:c.G1055C:p.G352A,DYRK1B:NM_006483:exon8:c.G1055C:p.G352A,DYRK1B:NM_006484:exon8:c.G1055C:p.G352A	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	406	1114	2	0	0	2	0.000896861	.	.	.	2862204	not_provided|DYRK1B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.056	0.00864740264069	0.0002	0.000199681	0.0007	0.0001	0	0	0	0.0004	0	0.0033	0.0005433	84	154602	rs148897290	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0027	0.0026	0	8.947e-05	0.0007	0	0	0.0019	0.0002	0.0004	0.0030	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.814e-05	0	0.0003	0.0009	0	0	0	0.0003	0.0005	0.0010	0.413	0.24468	T	0.341	0.27325	T	0.001	0.07471	B	0.008	0.13708	B	0.000611	0.42945	N	0.173108	0.965933	0.43157	D	0.46	0.12951	N	2.16	0.19166	T	-0.76	0.26843	N	0.374	0.47395	-1.0580	0.12260	T	0.025	0.10688	T	10	0.0104088485	0.00232	T	0.008647	0.22854	T	0.056	0.15993	.	.	0.449605256025	0.44583	0.31947417343014956	0.31860	0.524042863471	0.50107	0.608413279057	0.54092	T	0.088402	0.38150	T	-0.506354	0.00527	T	-0.503797	0.21955	T	0.0223959836431199	0.00953	T	.	.	.	0.12905967	0.30154	0.08793635	0.20471	0.13861254	0.32050	0.06475439	0.13026	-5.15	0.43309	T	.	.	0.088	0.12132	B	.;.;.;.;.	.;.;.;.;.	3.770362	0.54150	23.5	0.94538681379651179	0.25043	0.96546	0.69681	D	AEFDBI	0.732991	0.67957	D	-0.229682746119469	0.31920	1.794836	-0.0399613870732812	0.37927	2.227435	0.999997211247522	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.43	3.39	0.37919	3.789000	0.55159	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7788:0.0:0.2212	5.946	0.18458	647	0.63344	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;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase 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	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	526.83	34	chr19	39827325	.	C	G	526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.151;SOR=0.756	GT:AD:DP:GQ:PL	0/1:37,25:62:99:537,0,976	5	0	1	0
chr19	42224406	42224406	G	A	exonic	ZNF526	.	startloss	ZNF526:NM_001314033:exon3:c.G3A:p.M1?,ZNF526:NM_133444:exon3:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0134672778707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.039	0.21116	B	0.012	0.16012	B	0.831453	0.09103	N	0.894418	0.995454	0.23286	N	.	.	.	3.09	0.08371	T	-0.82	0.22508	N	0.704	0.70790	-1.0486	0.14790	T	0.019	0.08126	T	9	0.49182174	0.61037	T	0.013467	0.32898	T	0.189	0.46613	0.643	0.78010	0.39724302092	0.39341	0.22546606895603138	0.22461	.	.	.	.	.	0.018651	0.33552	T	0.113594	0.65723	D	-0.0746067	0.65296	T	0.972448170185089	0.69702	D	0.9	0.65058	D	0.7825298	0.82809	0.598441	0.76678	0.7825298	0.82811	0.598441	0.76679	-10.855	0.78856	D	.	.	.	.	.	.;.	.;.	3.868501	0.56145	23.7	0.99622295262224159	0.75473	0.95941	0.66818	D	AEFBCI	0.021622	0.00984	N	-0.0226314266327737	0.40833	2.431739	0.102378349710708	0.44671	2.744263	0.999991019725257	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.81	3.81	0.43020	3.994000	0.56707	8.680000	0.78040	0.662000	0.56354	0.993000	0.37899	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	11.486	0.49600	779	0.47767	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1361.83	34	chr19	42224406	.	G	A	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.172;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.611;SOR=0.846	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1372,0,861	5	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	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	0	0	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.08333	1836.83	44	chr19	42754576	.	G	A	1836.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=302;ExcessHet=0;FS=2.944;MLEAC=1;MLEAF=0.083;MQ=51.01;MQRankSum=-0.404;QD=16.4;ReadPosRankSum=0.376;SOR=1.129	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1847,0,1592	5	0	1	0
chr19	43497792	43497792	G	A	exonic	PHLDB3	.	stopgain	PHLDB3:NM_198850:exon5:c.C619T:p.Q207X	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs563015561	8.83e-05	8.824e-05	5.625e-05	0.0001	0.0012	7.504e-05	7.075e-05	0.0009	0.0008	0	2.772e-05	0	0	0	0.0012	2.588e-05	0.0001	0.0010	6.566e-05	6.562e-05	3.854e-05	9.399e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	6.54e-05	0	0	0	0	5.88e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000034	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.132	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220907	0.75862	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.808236	0.98051	38	0.99773129263003846	0.86088	0.58017	0.30529	D	AEFBI	0.037392	0.05136	N	0.651246397598985	0.76450	6.488681	0.444715919746618	0.64377	4.691608	0.0297200218086353	0.13902	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.26	3.15	0.35301	2.612000	0.46007	.	.	0.607000	0.46521	0.992000	0.37556	1.000000	0.68203	0.848000	0.40082	0.0:0.0:0.7989:0.2011	9.982	0.40988	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.83	36	chr19	43497792	.	G	A	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.719;DP=262;ExcessHet=0;FS=0.917;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.712;SOR=0.576	GT:AD:DP:GQ:PL	0/1:32,34:66:99:850,0,805	5	0	1	0
chr19	44477306	44477306	C	T	exonic	ZNF180	.	nonsynonymous SNV	ZNF180:NM_001278508:exon4:c.G1100A:p.R367Q,ZNF180:NM_001288761:exon4:c.G146A:p.R49Q,ZNF180:NM_001288762:exon4:c.G146A:p.R49Q,ZNF180:NM_001278509:exon5:c.G1094A:p.R365Q,ZNF180:NM_001288759:exon5:c.G1172A:p.R391Q,ZNF180:NM_001291633:exon5:c.G1094A:p.R365Q,ZNF180:NM_013256:exon5:c.G1175A:p.R392Q,ZNF180:NM_001288760:exon7:c.G146A:p.R49Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00631772521508	.	.	1.649e-05	9.651e-05	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs765744565	3.287e-05	3.286e-05	4.224e-05	2.34e-05	3.871e-05	2.546e-05	2.251e-05	2.916e-05	2.592e-05	2.992e-05	0	0	0	0	0	3.871e-05	1.657e-05	3.482e-05	3.291e-05	3.285e-05	2.573e-05	4.042e-05	9.672e-05	1.262e-05	7.99e-06	3.254e-05	1.918e-05	9.672e-05	0	0	0	0	0	0	1.471e-05	0	0	0.692	0.04277	T	0.854	0.03527	T	0.611	0.39680	P	0.029	0.21540	B	0.001539	0.38731	N	0.000000	1	0.08975	N	.	.	.	2.21	0.18414	T	0.51	0.03639	N	0.119	0.23380	-1.0331	0.19459	T	0.016	0.06377	T	10	0.07133895	0.10502	T	0.006318	0.16610	T	0.069	0.20116	.	.	0.28297238246	0.27903	0.13199376789081155	0.13124	0.27536817704	0.30016	0.601320743561	0.53091	T	0.002862	0.02258	T	-0.453065	0.01083	T	-0.651904	0.08822	T	0.0448996722698212	0.04584	T	0.611639	0.23235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.71281	P	.;.;.	.;.;.	1.649939	0.21048	15.03	0.97357555538227991	0.33554	0.00000	0.00017	N	AEFDGBHCI	0.064163	0.12443	N	-0.716627808477662	0.15554	0.7848962	-0.672600593819742	0.17648	0.9392949	0.206128557827689	0.18183	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.47	3.25	0.36363	-0.073000	0.11428	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1463:0.554:0.1417:0.1579	2.888	0.05318	900	0.24599	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	670.83	65	chr19	44477306	.	C	T	670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=403;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.447;SOR=0.726	GT:AD:DP:GQ:PL	0/1:39,25:64:99:681,0,1184	5	0	1	0
chr19	45614619	45614619	C	T	exonic	EML2	.	nonsynonymous SNV	EML2:NM_001352051:exon15:c.G1331A:p.G444E,EML2:NM_001352054:exon17:c.G1613A:p.G538E,EML2:NM_012155:exon17:c.G1679A:p.G560E,EML2:NM_001193268:exon20:c.G2282A:p.G761E,EML2:NM_001193269:exon20:c.G2120A:p.G707E,EML2:NM_001352052:exon20:c.G2279A:p.G760E,EML2:NM_001352053:exon20:c.G2117A:p.G706E	.	.	.	.	.	.	.	.	.	.	.	2755037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0831893346649	.	0.000199681	4.942e-05	0	0	0	0	8.991e-05	0	0	4.53e-05	7	154602	rs201142610	5.473e-05	5.472e-05	4.765e-05	6.188e-05	7.195e-05	4.477e-05	4.147e-05	5.885e-05	5.451e-05	0	0	0	0	0	0	7.195e-05	0	0	1.97e-05	1.968e-05	1.285e-05	2.685e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.405e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.891	0.63213	P	0.000000	0.84330	D	0.048286	1	0.81001	D	3.675	0.94400	H	1.13	0.38718	T	-5.67	0.87143	D	0.903	0.90363	-0.1658	0.78530	T	0.317	0.68655	T	10	0.8293195	0.82099	D	0.083189	0.74062	D	0.414	0.72479	.	.	0.813243436475	0.81148	0.610265953653914	0.60958	0.956258092959	0.72833	0.720698595047	0.70149	T	0.236169	0.63393	T	-0.0416838	0.45697	T	-0.0940525	0.63854	T	0.993681073188782	0.84585	D	0.988951	0.96278	D	0.78014547	0.82663	0.7336228	0.84258	0.78014547	0.82664	0.7336228	0.84259	-12.178	0.88863	D	.	.	0.941	0.86011	P	.;.;.;.	.;.;.;.	5.205928	0.87343	29.2	0.99764822134385633	0.85335	0.89139	0.49427	D	ALL	0.911578	0.87105	D	0.947809087179471	0.93897	12.35453	0.857409232317984	0.93442	12.045	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.12	5.12	0.69459	7.768000	0.84170	7.552000	0.60294	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	16.105	0.81025	812	0.42537	.;WD40-repeat-containing domain;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1407.83	33	chr19	45614619	.	C	T	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.982;DP=289;ExcessHet=0;FS=4.62;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.014;SOR=0.537	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1418,0,1623	5	0	1	0
chr19	46493659	46493659	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G1807A:p.A603T	.	422	1080	19	1	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00459265	0.0090	0	0.0045	0	0	0.0035	0.005	0.0207	0.0028201	436	154602	rs375877688	0.0027	0.0027	0.0022	0.0032	0.0186	0.0026	0.0026	0.0178	0.0175	0.0002	0.0011	0.0028	0	0.0001	0.0085	0.0018	0.0033	0.0186	0.0017	0.0017	0.0013	0.0020	0.0207	0.0015	0.0014	0.0174	0.0162	0.0002	0	0.0009	0.0026	0.0002	9.414e-05	0.0205	0.0017	0.0009	0.0207	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.01	0.21291	T	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.00285092	0.00045	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.051661787910480456	0.05108	.	.	0.592301189899	0.51819	T	.	.	.	-0.641604	0.00082	T	-0.679459	0.07016	T	.	.	.	0.340966	0.07383	T	0.02202339	0.00839	0.07431563	0.16243	0.02202339	0.00838	0.07431563	0.16243	-4.393	0.29462	T	.	.	0.097	0.15832	B	.	.	1.204061	0.15965	12.23	0.73959893321016346	0.10518	0.05151	0.10964	N	AEFDBCI	0.044160	0.07072	N	.	.	.	.	.	.	0.989751113103274	0.31925	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	1.99	0.886	0.18329	-0.507000	0.06434	0.319000	0.17164	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6824:0.3176:0.0	6.247	0.20030	866	0.32446	.	.	.	.	.	.	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	0.007748	0.000000	0.008197	0.003185	0.000000	0.000000	0.022013	0.011364	0.08333	253.83	33	chr19	46493659	.	C	T	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.984;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-1.207;SOR=0.818	GT:AD:DP:GQ:PL	0/1:16,15:31:99:264,0,324	5	0	1	0
chr19	47341205	47341205	G	A	exonic	C5AR2	.	nonsynonymous SNV	C5AR2:NM_001271749:exon2:c.G406A:p.A136T,C5AR2:NM_001271750:exon2:c.G406A:p.A136T,C5AR2:NM_018485:exon2:c.G406A:p.A136T	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0319263725788	.	0.000798722	0.0008	0	0	0	0	1.515e-05	0.0011	0.0055	0.0006274	97	154602	rs551052413	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0047	0.0045	2.988e-05	0	0	0	0	0.0005	2.698e-06	0.0002	0.0050	0.0001	0.0001	7.713e-05	0.0002	0.0035	7.578e-05	6.282e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	0	0	0.0035	.	.	.	0.044	0.49663	D	0.986	0.61523	D	0.848	0.60574	P	0.000842	0.41440	U	0.160025	0.999	0.21810	N	2.72	0.79541	M	-0.6	0.71662	T	.	.	.	0.333	0.38438	-0.5164	0.68050	T	0.393	0.74663	T	10	0.013469905	0.00286	T	0.031926	0.53888	D	.	.	0.558	0.67684	0.769653552232	0.76754	0.3230668435271442	0.32219	0.608496289833	0.55620	0.505989730358	0.39661	T	0.110642	0.42550	T	-0.321657	0.06764	T	-0.23331	0.51451	T	0.155370206083906	0.17523	T	0.554445	0.19192	T	0.0945693	0.22237	0.1401203	0.33410	0.0945693	0.22236	0.1401203	0.33409	-4.796	0.34545	T	.	.	0.110	0.21239	B	.;.	.;.	2.805637	0.36920	20.4	0.99276883919491365	0.57765	0.53289	0.29336	D	AEFBI	0.220296	0.34507	N	0.227390812630577	0.52531	3.426592	0.134706398793326	0.46336	2.881296	0.0281277805802975	0.13813	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.34	4.34	0.51267	4.712000	0.61578	4.560000	0.43837	0.672000	0.70159	0.994000	0.38300	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	14.394	0.66563	889	0.27310	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	602.83	34	chr19	47341205	.	G	A	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.303;DP=218;ExcessHet=0;FS=4.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.106;SOR=0.462	GT:AD:DP:GQ:PL	0/1:21,23:44:99:613,0,676	5	0	1	0
chr19	49294407	49294407	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon8:c.G1376A:p.R459H	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0073	0.00479233	0.0037	0.0192	0.0021	0	0.0002	0.0026	0.0011	0.0036	0.0034346	531	154602	rs138253216	0.0024	0.0024	0.0023	0.0024	0.0216	0.0023	0.0023	0.0203	0.0198	0.0216	0.0028	0.0013	0	0.0003	0.0043	0.0018	0.0030	0.0036	0.0069	0.0069	0.0068	0.0070	0.0180	0.0065	0.0064	0.0169	0.0165	0.0180	0	0.0057	0.0014	0	0.0003	0.0034	0.0027	0.0048	0.0017	0.293	0.25873	T	0.461	0.12597	T	0.141	0.27581	B	0.038	0.23361	B	0.747423	0.09727	N	0.874362	1	0.08975	N	-0.865	0.01458	N	-0.81	0.78967	T	0.71	0.02130	N	0.125	0.11769	-1.0312	0.20066	T	0.078	0.31042	T	10	0.0046471953	0.00097	T	.	.	.	0.055	0.15663	.	.	0.689334609144	0.68667	0.1302183923567674	0.12946	0.232318270536	0.25778	0.315992683172	0.12813	T	0.01182	0.10487	T	-0.603928	0.00138	T	-0.623358	0.10923	T	0.00433142655707461	0.00046	T	0.446155	0.12501	T	0.027017904	0.01836	0.028977517	0.01186	0.027017904	0.01835	0.028977517	0.01186	-3.33	0.14126	T	.	.	0.075	0.10111	B	.;.;.	.;.;.	0.553371	0.09222	6.002	0.92429370541107858	0.21848	0.01050	0.03913	N	AEFDGBI	0.026945	0.02113	N	-1.26464066904413	0.04109	0.1848481	-1.25274284416361	0.05090	0.2417338	0.00284190852363859	0.09746	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.98	0.257	0.14830	-0.500000	0.06487	-4.361000	0.02197	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4594:0.3491:0.1915	4.784	0.12586	824	0.40336	.;.;.	.	.	.	.	.	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	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	912.83	38	chr19	49294407	.	C	T	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.964;DP=249;ExcessHet=0;FS=4.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.974;SOR=0.41	GT:AD:DP:GQ:PL	0/1:34,39:73:99:923,0,876	5	0	1	0
chr19	49636675	49636675	C	T	exonic	RRAS	.	nonsynonymous SNV	RRAS:NM_006270:exon4:c.G397A:p.D133N	.	428	1090	4	0	0	4	0.0018315	.	.	.	468964	RRAS-related_disorder|not_provided|Noonan_syndrome|not_specified	.|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.414	0.161810927986	0.0045	0.00159744	0.0050	0.0008	0.0007	0	0.0032	0.0084	0.0022	0.0005	0.0049417	764	154602	rs61760904	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0007	0.0007	0.0030	0	0.0047	0.0017	0.0075	0.0044	0.0006	0.0038	0.0038	0.0040	0.0036	0.0072	0.0036	0.0035	0.0066	0.0064	0.0008	0	0.0008	0.0037	0	0.0023	0.0068	0.0072	0.0033	0	0.06	0.37326	T	0.038	0.51421	D	0.981	0.59675	D	0.582	0.50238	P	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	1	0.25136	L	-1.05	0.76690	T	-3.93	0.73267	D	0.509	0.54059	-0.3466	0.73652	T	0.302	0.67307	T	10	0.014026105	0.00296	T	0.161811	0.84152	D	0.414	0.72479	.	.	0.809169187268	0.80738	0.5122025962641442	0.51142	0.671510168274	0.59462	0.760585069656	0.76016	T	0.766728	0.93724	D	-0.414046	0.01869	T	-0.362257	0.37790	T	0.0364741424210464	0.03063	T	0.936706	0.76258	D	0.66410166	0.76118	0.36052197	0.61492	0.66410166	0.76119	0.36052197	0.61492	-6.396	0.49479	T	.	.	0.310	0.53747	B	.	.	4.637857	0.73806	26.1	0.99718392139845946	0.81843	0.93223	0.57646	D	AEFDBCI	0.800180	0.72623	D	0.120444003981777	0.47417	2.967731	0.0161660963154392	0.40465	2.415345	0.99999989140197	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.741806	0.99463	0	.	.	4.2	3.14	0.35196	7.274000	0.77928	5.805000	0.49965	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.833:0.167:0.0	12.766	0.56770	789	0.46346	Small GTP-binding protein 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1197.83	36	chr19	49636675	.	C	T	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.986;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.113;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1208,0,1199	5	0	1	0
chr19	49651191	49651202	GAGGAGGAAGAG	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.802_813del:p.E279_E282del	.	374	1145	1	0	2	3	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0	0.0001	0	0.0002	0	6.073e-05	3.84e-05	1	26028	rs777843290	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0003	2.236e-05	0	2.519e-05	1.88e-05	0.0005	0.0001	0.0001	5.797e-05	0.0001	0.0001	0.0002	8.205e-05	0.0002	7.694e-05	6.378e-05	0.0001	0.0001	0.0002	0	6.627e-05	0	0	0	0	8.913e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3350.79	35	chr19	49651190	.	TGAGGAGGAAGAG	T	3350.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.762;DP=393;ExcessHet=0;FS=5.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.196;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,89:187:99:0|1:49651190_TGAGGAGGAAGAG_T:3361,0,3665:49651190	5	0	1	0
chr19	49876627	49876627	C	T	exonic	AKT1S1	.	nonsynonymous SNV	AKT1S1:NM_032375:exon1:c.G29A:p.G10E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0137411951474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239149623	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.95	0.43279	T	0.46	0.03140	N	0.121	0.11197	-1.0301	0.20422	T	0.121	0.42079	T	6	0.112021685	0.20998	T	0.013741	0.33370	T	0.019	0.03383	0.168	0.07302	0.732080516103	0.72969	0.17919354784069766	0.17838	0.271769764214	0.29692	.	.	.	.	.	.	-0.181354	0.23533	T	-0.498279	0.22526	T	0.231015870888011	0.22000	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	-3.975	0.23428	T	.	.	0.081	0.08129	B	.	.	2.312250	0.29597	18.17	0.96144907350042585	0.28847	0.07978	0.13960	N	ALL	0.127828	0.24535	N	0.0707987605915805	0.45105	2.772608	0.118458884162329	0.45493	2.811502	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.16	4.13	0.47661	1.412000	0.34322	0.393000	0.17912	0.599000	0.40250	0.475000	0.26761	0.008000	0.19753	0.997000	0.79791	0.0:0.9029:0.0:0.0971	9.240	0.36650	621	0.65931	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1185.83	33	chr19	49876627	.	C	T	1185.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.663;DP=255;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.533;SOR=0.468	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1196,0,1015	5	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	47.83	122	chr19	51746559	.	T	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.2;DP=723;ExcessHet=0;FS=117.932;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.853;SOR=6.932	GT:AD:DP:GQ:PL	0/1:100,31:131:58:58,0,2549	5	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCAT	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCAT:p.K415_R577delinsS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29e-05	0.0003	3.985e-05	2.588e-05	0.0002	2.522e-05	2.256e-05	2.377e-05	1.653e-05	3.129e-05	2.347e-05	8.017e-05	0	0.0001	0.0002	2.726e-05	0	6.081e-05	0.0008	0.0031	0.0009	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0008	0	0.0007	0.0006	0.0002	0.0007	0.0039	0.0008	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	716.15	71	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCAT	716.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=360;ExcessHet=3.1439;FS=77.743;MLEAC=1;MLEAF=0.083;MQ=59.51;MQRankSum=0;QD=2.73;ReadPosRankSum=-2.263;SOR=6.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,5:41:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:101,0,1497:52384817	5	0	1	0
chr19	54274725	54274725	-	GAG	exonic	LILRB2	.	nonframeshift insertion	LILRB2:NM_001278404:exon13:c.1406_1407insCTC:p.P469delinsPS,LILRB2:NM_001080978:exon14:c.1751_1752insCTC:p.P584_P585insS,LILRB2:NM_001278403:exon14:c.1751_1752insCTC:p.P584delinsPS,LILRB2:NM_005874:exon14:c.1754_1755insCTC:p.P585_P586insS	.	9	1500	9	4	0	17	0.00563474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs771433769	0.0022	0.0035	0.0013	0.0030	0.0283	0.0021	0.0021	0.0274	0.0270	0.0001	0.0008	0	0.0046	3.744e-05	0.0046	0.0004	0.0022	0.0283	0.0022	0.0031	0.0016	0.0028	0.0460	0.0020	0.0019	0.0410	0.0390	0.0003	0	0.0009	0	0.0039	9.436e-05	0.0068	0.0011	0.0010	0.0460	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	189.79	34	chr19	54274725	.	A	AGAG	189.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=249;ExcessHet=0;FS=8.249;MLEAC=1;MLEAF=0.083;MQ=57.61;MQRankSum=-8.151;QD=2.79;ReadPosRankSum=0.335;SOR=2.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,9:68:99:0|1:54274725_A_AGAG:200,0,2450:54274725	5	0	1	0
chr19	54274728	54274729	TT	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1403_1404del:p.E468fs,LILRB2:NM_001080978:exon14:c.1748_1749del:p.E583Afs*4,LILRB2:NM_001278403:exon14:c.1748_1749del:p.E583fs,LILRB2:NM_005874:exon14:c.1751_1752del:p.E584Afs*4	.	10	1499	9	4	0	17	0.00563847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs781576541	0.0023	0.0035	0.0014	0.0032	0.0305	0.0022	0.0022	0.0295	0.0291	0.0001	0.0009	0	0.0048	3.744e-05	0.0051	0.0004	0.0022	0.0305	0.0023	0.0031	0.0017	0.0029	0.0485	0.0021	0.0020	0.0433	0.0413	0.0003	0	0.0009	0	0.0039	9.423e-05	0.0068	0.0011	0.0014	0.0485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	215.79	34	chr19	54274727	.	GTT	G	215.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.67;DP=252;ExcessHet=0;FS=7.495;MLEAC=1;MLEAF=0.083;MQ=57.67;MQRankSum=-8.328;QD=3.04;ReadPosRankSum=0.462;SOR=1.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10:71:99:0|1:54274725_A_AGAG:226,0,2531:54274725	5	0	1	0
chr19	54274733	54274733	T	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1399delA:p.R467fs,LILRB2:NM_001080978:exon14:c.1744delA:p.R582Gfs*68,LILRB2:NM_001278403:exon14:c.1744delA:p.R582fs,LILRB2:NM_005874:exon14:c.1747delA:p.R583Gfs*68	.	9	1501	8	4	0	16	0.00530152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0.0002	0	0	6.094e-05	.	.	.	rs745907042	0.0024	0.0034	0.0015	0.0034	0.0321	0.0024	0.0023	0.0311	0.0307	0.0002	0.0009	0	0.0049	3.744e-05	0.0052	0.0004	0.0024	0.0321	0.0024	0.0031	0.0018	0.0030	0.0488	0.0022	0.0021	0.0436	0.0416	0.0003	0	0.0009	0	0.0045	9.427e-05	0.0068	0.0011	0.0014	0.0488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	215.79	34	chr19	54274732	.	CT	C	215.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=253;ExcessHet=0;FS=7.495;MLEAC=1;MLEAF=0.083;MQ=57.7;MQRankSum=-8.328;QD=3.04;ReadPosRankSum=0.248;SOR=1.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10:71:99:0|1:54274725_A_AGAG:226,0,2531:54274725	5	0	1	0
chr19	54278950	54278950	G	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C469A:p.Q157K,LILRB2:NM_001278405:exon5:c.C817A:p.Q273K,LILRB2:NM_001278406:exon5:c.C817A:p.Q273K,LILRB2:NM_001080978:exon6:c.C817A:p.Q273K,LILRB2:NM_001278403:exon6:c.C817A:p.Q273K,LILRB2:NM_005874:exon6:c.C817A:p.Q273K	.	0	1478	44	0	0	44	0.0146667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00444735723942	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs201709101	6.165e-06	0.0007	5.45e-06	6.888e-06	0.0004	2.9e-06	2.1e-06	6.165e-05	2.548e-05	2.987e-05	0	0	0	0	0.0004	8.995e-07	0	5.897e-05	0.0001	0.0018	7.729e-05	0.0002	0.0038	8.192e-05	6.744e-05	0.0024	0.0020	0	0	0	0	0.0004	0	0	0	0	0.0038	0.047	0.40319	D	0.079	0.42086	T	.	.	.	.	.	.	0.900648	0.07353	N	1.065300	1	0.08975	N	.	.	.	5.72	0.00726	T	-3.62	0.69714	D	0.176	0.21319	-0.9320	0.43844	T	0.009	0.03403	T	10	0.06828326	0.09636	T	0.004447	0.10906	T	0.061	0.17616	.	.	0.311079019809	0.30711	0.04552665434673201	0.04496	0.221205106065	0.24664	0.411096394062	0.26609	T	.	.	.	-0.253024	0.13731	T	-0.601228	0.12709	T	0.971119940280914	0.69196	D	0.632737	0.24712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15206	B	.;.;.;.;.	.;.;.;.;.	2.311784	0.29597	18.17	0.96721488082963725	0.30851	0.01934	0.05894	N	AEFDBI	0.072394	0.14447	N	-0.245528290576299	0.31282	1.752521	-0.525168471432828	0.21471	1.16165	0.999956063135862	0.48110	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.31	1.1	0.19578	0.324000	0.19357	.	.	0.612000	0.49041	0.001000	0.13787	.	.	0.009000	0.08673	0.0:0.2898:0.7102:0.0	6.961	0.23775	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	320.83	130	chr19	54278950	.	G	T	320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=821;ExcessHet=0;FS=4.434;MLEAC=1;MLEAF=0.083;MQ=56.22;MQRankSum=-8.946;QD=1.57;ReadPosRankSum=1.85;SOR=1.202	GT:AD:DP:GQ:PL	0/1:183,21:204:99:331,0,7599	5	0	1	0
chr19	54278953	54278953	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C466T:p.P156S,LILRB2:NM_001278405:exon5:c.C814T:p.P272S,LILRB2:NM_001278406:exon5:c.C814T:p.P272S,LILRB2:NM_001080978:exon6:c.C814T:p.P272S,LILRB2:NM_001278403:exon6:c.C814T:p.P272S,LILRB2:NM_005874:exon6:c.C814T:p.P272S	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	.	8.243e-06	0	0	0	0	0	0	6.056e-05	2.59e-05	4	154602	rs199893740	1.028e-05	0.0007	5.451e-06	1.516e-05	0.0009	6.17e-06	4.89e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	0	0	0.0001	0.0002	0.0018	0.0001	0.0002	0.0045	0.0001	9.265e-05	0.0030	0.0025	0	0	0	0	0.0004	0	0	2.946e-05	0	0.0045	0.123	0.27544	T	0.338	0.21947	T	.	.	.	.	.	.	0.441722	0.04764	N	1.421900	1	0.08975	N	.	.	.	5.88	0.00632	T	-4.16	0.76822	D	0.07	0.05162	-0.9828	0.34351	T	0.003	0.00897	T	10	0.020472646	0.00472	T	.	.	.	0.018	0.03083	.	.	0.15556083564	0.15200	0.048492907628059675	0.04792	0.0632635586306	0.07043	0.329334050417	0.14833	T	.	.	.	-0.410166	0.01982	T	-0.730097	0.04323	T	0.57456761598587	0.35410	D	0.59544	0.22079	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.;.;.;.	.;.;.;.;.	-0.354200	0.02388	0.265	0.97894733251973276	0.36697	0.00842	0.03373	N	AEFDBI	0.059447	0.11227	N	-1.22764309810554	0.04603	0.2080823	-1.39975666105797	0.03255	0.1514695	0.99999875439751	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-4.94	0.02830	-1.242000	0.03018	.	.	-1.094000	0.01527	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1359:0.1652:0.2018:0.4971	1.533	0.02386	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	308.83	130	chr19	54278953	.	G	A	308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.481;DP=821;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.083;MQ=56.56;MQRankSum=-9.055;QD=1.48;ReadPosRankSum=2.25;SOR=1.269	GT:AD:DP:GQ:PL	0/1:187,21:208:99:319,0,7767	5	0	1	0
chr19	54278958	54278958	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G461A:p.R154Q,LILRB2:NM_001278405:exon5:c.G809A:p.R270Q,LILRB2:NM_001278406:exon5:c.G809A:p.R270Q,LILRB2:NM_001080978:exon6:c.G809A:p.R270Q,LILRB2:NM_001278403:exon6:c.G809A:p.R270Q,LILRB2:NM_005874:exon6:c.G809A:p.R270Q	.	0	1469	47	0	6	53	0.0157454	.	.	.	3448989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	.	.	.	0.0002	0.0002	0.0016	0	0	4.498e-05	0	6.056e-05	0.0001811	28	154602	rs141001610	6.853e-05	0.0009	7.632e-05	6.065e-05	0.0011	5.723e-05	5.336e-05	0.0009	0.0008	0.0002	0.0011	3.826e-05	2.53e-05	0	0.0005	2.519e-05	1.659e-05	0.0001	0.0002	0.0019	0.0002	0.0003	0.0049	0.0002	0.0002	0.0033	0.0028	0.0001	0	0.0002	0	0.0004	0	0	4.419e-05	0	0.0049	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.002460	0.00890	N	3.309270	1	0.08975	N	.	.	.	5.85	0.00643	T	0.1	0.08033	N	0.086	0.06322	-0.9480	0.41313	T	0.001	0.00408	T	10	0.0064520836	0.00146	T	.	.	.	0.051	0.14325	.	.	0.0762999501168	0.06990	0.03574424853434192	0.03521	0.0523993487686	0.05771	0.308895945549	0.11741	T	.	.	.	-0.635988	0.00088	T	-0.726862	0.04471	T	0.0861766710877419	0.10757	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.04002	B	.;.;.;.;.	.;.;.;.;.	-0.243570	0.02876	0.409	0.89160353015236826	0.18561	0.00098	0.00638	N	AEFDBI	0.044351	0.07125	N	-1.50017356937193	0.01849	0.08109786	-1.52029509544871	0.02188	0.1002686	0.999954743047432	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.81	-1.39	0.08526	-2.154000	0.01372	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2971:0.3746:0.0:0.3284	1.702	0.02701	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	344.83	130	chr19	54278958	.	C	T	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=824;ExcessHet=0;FS=5.884;MLEAC=1;MLEAF=0.083;MQ=56.86;MQRankSum=-9.633;QD=1.63;ReadPosRankSum=2.57;SOR=1.398	GT:AD:DP:GQ:PL	0/1:189,22:211:99:355,0,7870	5	0	1	0
chr19	54278964	54278964	G	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C455A:p.P152H,LILRB2:NM_001278405:exon5:c.C803A:p.P268H,LILRB2:NM_001278406:exon5:c.C803A:p.P268H,LILRB2:NM_001080978:exon6:c.C803A:p.P268H,LILRB2:NM_001278403:exon6:c.C803A:p.P268H,LILRB2:NM_005874:exon6:c.C803A:p.P268H	.	0	1471	51	0	0	51	0.0170398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs202225109	9.6e-06	0.0011	8.181e-06	1.104e-05	0.0007	5.57e-06	4.36e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	0	0	0.0001	0.0002	0.0019	0.0001	0.0003	0.0054	0.0001	0.0001	0.0037	0.0032	0	0	0.0001	0	0.0004	0	0	2.946e-05	0	0.0054	0.255	0.21467	T	0.19	0.29740	T	.	.	.	.	.	.	0.330908	0.04130	N	1.557270	1	0.08975	N	.	.	.	2.58	0.13434	T	-4.54	0.86836	D	0.141	0.15609	-0.9554	0.40024	T	0.040	0.17149	T	10	0.029960573	0.01121	T	.	.	.	0.038	0.09825	.	.	0.214338557667	0.21045	0.044474946673734694	0.04391	0.0706747298665	0.07918	0.350279659033	0.17962	T	.	.	.	-0.294746	0.09164	T	-0.661158	0.08188	T	0.21102948486805	0.21007	T	0.40306	0.10319	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21987	B	.;.;.;.;.	.;.;.;.;.	0.201011	0.05860	2.299	0.85762128380657487	0.16096	0.00511	0.02393	N	AEFDBI	0.061365	0.11728	N	-1.03468415525976	0.07891	0.3681373	-1.22419382548256	0.05524	0.263401	0.999990688997952	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.94	-3.7	0.04150	-1.490000	0.02409	.	.	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2658:0.0:0.5035:0.2308	2.863	0.05251	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	380.83	130	chr19	54278964	.	G	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.059;DP=827;ExcessHet=0;FS=8.934;MLEAC=1;MLEAF=0.083;MQ=57.06;MQRankSum=-10.07;QD=1.78;ReadPosRankSum=1.96;SOR=1.557	GT:AD:DP:GQ:PL	0/1:191,23:214:99:391,0,7951	5	0	1	0
chr19	54278980	54278980	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G439A:p.D147N,LILRB2:NM_001278405:exon5:c.G787A:p.D263N,LILRB2:NM_001278406:exon5:c.G787A:p.D263N,LILRB2:NM_001080978:exon6:c.G787A:p.D263N,LILRB2:NM_001278403:exon6:c.G787A:p.D263N,LILRB2:NM_005874:exon6:c.G787A:p.D263N	.	0	1466	56	0	0	56	0.0187416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	3.88e-05	6	154602	rs201144349	3.158e-05	0.0016	2.456e-05	3.868e-05	0.0007	2.421e-05	2.165e-05	0.0003	0.0003	2.987e-05	0	0	7.596e-05	0	0.0007	0	1.665e-05	0.0004	0.0003	0.0020	0.0002	0.0004	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	6.545e-05	0	0.0006	0	0	4.419e-05	0	0.0078	0.057	0.40068	T	0.137	0.35970	T	.	.	.	.	.	.	0.227542	0.03497	N	1.622490	1	0.08975	N	.	.	.	5.78	0.00681	T	-3.18	0.67241	D	0.075	0.06720	-0.9001	0.47983	T	0.004	0.01330	T	10	0.011269033	0.00247	T	.	.	.	0.019	0.03383	.	.	0.16115917748	0.15686	0.02858884656927589	0.02808	0.0517027299981	0.05692	0.434308677912	0.29798	T	.	.	.	-0.408154	0.02045	T	-0.621408	0.11076	T	0.067898266017437	0.08354	T	0.0672933	0.00489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	0.126745	0.05232	1.737	0.99165378949905292	0.54212	0.00731	0.03065	N	AEFDBI	0.067992	0.13391	N	-0.943784021005047	0.09832	0.4671333	-1.04171641115742	0.08880	0.4388496	0.999966612744748	0.48965	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.6	1.52	0.22158	-0.084000	0.11233	.	.	-0.237000	0.07570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8311:0.0:0.1689	5.958	0.18521	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	358.83	130	chr19	54278980	.	C	T	358.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.459;DP=1289;ExcessHet=0;FS=3.836;MLEAC=1;MLEAF=0.083;MQ=57.19;MQRankSum=-10.5;QD=1.57;ReadPosRankSum=1.03;SOR=1.074	GT:AD:DP:GQ:PL	0/1:203,26:229:99:369,0,8373	5	0	1	0
chr19	54279009	54279009	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G410A:p.R137K,LILRB2:NM_001278405:exon5:c.G758A:p.R253K,LILRB2:NM_001278406:exon5:c.G758A:p.R253K,LILRB2:NM_001080978:exon6:c.G758A:p.R253K,LILRB2:NM_001278403:exon6:c.G758A:p.R253K,LILRB2:NM_005874:exon6:c.G758A:p.R253K	.	0	1462	60	0	0	60	0.0201072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00235222709684	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	.	.	.	rs201954016	2.403e-05	0.0016	2.729e-05	2.072e-05	0.0007	1.745e-05	1.544e-05	0.0002	0.0002	2.988e-05	0	0	5.066e-05	0	0.0007	0	3.329e-05	0.0003	0.0002	0.0022	0.0001	0.0004	0.0063	0.0002	0.0002	0.0045	0.0039	0	0	6.545e-05	0	0.0006	0	0	5.892e-05	0.0005	0.0063	0.036	0.44029	D	0.122	0.36233	T	.	.	.	.	.	.	0.319229	0.14299	N	0.586687	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.49	0.55181	N	0.187	0.23125	-1.0404	0.17192	T	0.031	0.13242	T	10	0.025534004	0.00745	T	0.002352	0.04562	T	0.067	0.19503	.	.	0.212008924253	0.20833	0.10418856203767023	0.10348	0.0833994470857	0.09409	0.417187333107	0.27450	T	.	.	.	-0.174685	0.24528	T	-0.4887	0.23526	T	0.564006745815277	0.35007	D	0.570043	0.20293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.30291	B	.;.;.;.;.	.;.;.;.;.	1.889670	0.24000	16.23	0.98485548965399816	0.42025	0.01821	0.05662	N	AEFDBI	0.073054	0.14600	N	-0.583375646932635	0.19449	1.018033	-0.70337057896817	0.16876	0.89484	0.99995673367178	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	1.19	0.20120	0.229000	0.17614	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6815:0.3185:0.0	6.256	0.20085	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	568.83	280	chr19	54279009	.	C	T	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.848;DP=1581;ExcessHet=0;FS=1.57;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-10.5;QD=2.39;ReadPosRankSum=-0.844;SOR=0.52	GT:AD:DP:GQ:PL	0/1:208,30:238:99:579,0,8270	5	0	1	0
chr19	54279067	54279067	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G352A:p.V118I,LILRB2:NM_001278405:exon5:c.G700A:p.V234I,LILRB2:NM_001278406:exon5:c.G700A:p.V234I,LILRB2:NM_001080978:exon6:c.G700A:p.V234I,LILRB2:NM_001278403:exon6:c.G700A:p.V234I,LILRB2:NM_005874:exon6:c.G700A:p.V234I	.	0	1465	57	0	0	57	0.0190827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00231689804329	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310632184	3.426e-06	0.0007	2.725e-06	4.136e-06	1.799e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.616e-05	0	1.799e-06	0	0	6.587e-05	0.0017	2.576e-05	0.0001	0.0016	3.525e-05	2.622e-05	0.0007	0.0005	0	0	6.545e-05	0	0.0002	0	0	1.473e-05	0	0.0016	0.593	0.06627	T	0.338	0.20551	T	.	.	.	.	.	.	0.761412	0.09620	N	0.865655	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.51	0.16393	N	0.036	0.01421	-0.9504	0.40903	T	0.022	0.09421	T	10	0.036592543	0.01965	T	0.002317	0.04479	T	0.008	0.00669	.	.	0.0611884634855	0.05136	0.03357643983119686	0.03305	0.0470091310677	0.05119	0.29942548275	0.10315	T	.	.	.	-0.358469	0.04217	T	-0.752693	0.03382	T	0.062499953860658	0.07557	T	0.381662	0.09243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.15609	B	.;.;.;.;.	.;.;.;.;.	-0.840867	0.01029	0.043	0.56970648003233282	0.05667	0.00059	0.00440	N	AEFDBI	0.028238	0.02451	N	-1.40762758122284	0.02571	0.1137209	-1.57198416243308	0.01829	0.08330974	0.999998432343023	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.44	-4.88	0.02884	-2.561000	0.00996	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2208:0.3584:0.4208	4.131	0.09618	994	0.00715	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	167.83	130	chr19	54279067	.	C	T	167.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.275;DP=763;ExcessHet=0;FS=2.104;MLEAC=1;MLEAF=0.083;MQ=56.44;MQRankSum=-7.622;QD=0.86;ReadPosRankSum=1.68;SOR=0.972	GT:AD:DP:GQ:PL	0/1:178,17:195:99:178,0,7368	5	0	1	0
chr19	54279637	54279638	TG	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon4:c.17_18del:p.P6fs,LILRB2:NM_001278405:exon4:c.365_366del:p.P122Qfs*23,LILRB2:NM_001278406:exon4:c.365_366del:p.P122Qfs*23,LILRB2:NM_001080978:exon5:c.365_366del:p.P122Qfs*23,LILRB2:NM_001278403:exon5:c.365_366del:p.P122fs,LILRB2:NM_005874:exon5:c.365_366del:p.P122Qfs*23	.	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.306e-05	0	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs772394490	0.0001	0.0026	6.728e-05	0.0002	0.0018	0.0001	9.448e-05	0.0016	0.0015	9.011e-05	2.255e-05	0	0.0002	0	0.0002	3.62e-06	0.0001	0.0018	0.0005	0.0027	0.0004	0.0007	0.0105	0.0004	0.0004	0.0081	0.0072	9.65e-05	0	0.0004	0	0.0016	0	0	0.0002	0.0010	0.0105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	209.79	161	chr19	54279636	.	TTG	T	209.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=852;ExcessHet=0;FS=13.091;MLEAC=1;MLEAF=0.083;MQ=58.58;MQRankSum=-10.82;QD=1.39;ReadPosRankSum=-1.357;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,15:151:99:0|1:54279636_TTG_T:220,0,5621:54279636	5	0	1	0
chr19	54279639	54279639	-	CT	exonic	LILRB2	.	frameshift insertion	LILRB2:NM_001278404:exon4:c.15_16insAG:p.P6fs,LILRB2:NM_001278405:exon4:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001278406:exon4:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001080978:exon5:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001278403:exon5:c.363_364insAG:p.P122fs,LILRB2:NM_005874:exon5:c.363_364insAG:p.P122Sfs*14	.	5	1509	8	0	0	8	0.00264375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.309e-05	0	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs776264427	0.0002	0.0026	0.0001	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	9.011e-05	4.51e-05	0	0.0002	0	0.0002	8.146e-06	0.0001	0.0025	0.0005	0.0027	0.0004	0.0007	0.0111	0.0004	0.0004	0.0086	0.0077	9.643e-05	0	0.0004	0	0.0018	0	0	0.0002	0.0010	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	209.79	161	chr19	54279639	.	G	GCT	209.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.41;DP=848;ExcessHet=0;FS=13.091;MLEAC=1;MLEAF=0.083;MQ=58.54;MQRankSum=-10.82;QD=1.39;ReadPosRankSum=-1.382;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,15:151:99:0|1:54279636_TTG_T:220,0,5621:54279636	5	0	1	0
chr19	54280267	54280267	T	C	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278405:exon2:c.A67G:p.T23A,LILRB2:NM_001278406:exon2:c.A67G:p.T23A,LILRB2:NM_001080978:exon3:c.A67G:p.T23A,LILRB2:NM_001278403:exon3:c.A67G:p.T23A,LILRB2:NM_005874:exon3:c.A67G:p.T23A	.	2	1433	87	0	0	87	0.0294616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0012	0.0227636	0.0115	0.0014	0.0022	0.0071	0	0.0022	0.0110	0.0689	0.0011643	180	154602	rs45557835	0.0051	0.0059	0.0034	0.0068	0.0620	0.0050	0.0050	0.0606	0.0601	0.0015	0.0026	3.832e-05	0.0083	0.0002	0.0214	0.0010	0.0065	0.0620	0.0042	0.0085	0.0032	0.0053	0.0758	0.0039	0.0038	0.0692	0.0666	0.0018	0	0.0020	0	0.0086	9.777e-05	0.0071	0.0018	0.0045	0.0758	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.214330	0.16290	N	0.506830	1	0.08975	N	.	.	.	7.24	0.00442	T	3.1	0.00152	N	0.015	0.00372	-0.9672	0.37774	T	0.000	0.00039	T	10	0.0016281903	0.00019	T	.	.	.	0.050	0.13987	.	.	.	.	0.13931904933701697	0.13854	0.0445651489178	0.04814	0.258890688419	0.04759	T	.	.	.	-0.750458	0.00018	T	-0.843793	0.01043	T	0.0121831028162127	0.00195	T	0.10479	0.00780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00890	B	.;.;.;.	.;.;.;.	0.305873	0.06811	3.336	0.78567594590600964	0.12357	0.00042	0.00346	N	AEFBI	0.022739	0.01175	N	-1.98632032158532	0.00226	0.009703882	-1.97120563060797	0.00352	0.01553707	0.999987168024289	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.24	-4.48	0.03267	0.118000	0.15436	.	.	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1784:0.2253:0.1772:0.4191	0.660	0.00787	994	0.00715	.;.;.;.	.	.	.	.	.	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	0	0	0.030127	0.005051	0.025815	0.024590	0.000000	0.017241	0.027439	0.068182	0.08333	1227.83	86	chr19	54280267	.	T	C	1227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=565;ExcessHet=0;FS=5.489;MLEAC=1;MLEAF=0.083;MQ=57.82;MQRankSum=-7.849;QD=7.92;ReadPosRankSum=-0.306;SOR=0.364	GT:AD:DP:GQ:PL	0/1:105,50:155:99:1238,0,2980	5	0	1	0
chr19	54337451	54337451	C	G	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G901C:p.V301L	.	5	1472	44	1	0	46	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0059	0.00579073	0.0073	0.0054	0.0109	0.0017	0.0062	0.0078	0.0102	0.0072	0.0070956	1097	154602	rs55828618	0.0069	0.0069	0.0069	0.0069	0.0110	0.0068	0.0067	0.0094	0.0091	0.0052	0.0102	0.0098	0.0033	0.0042	0.0110	0.0069	0.0070	0.0078	0.0070	0.0070	0.0070	0.0070	0.0095	0.0066	0.0065	0.0083	0.0078	0.0058	0	0.0095	0.0110	0.0035	0.0041	0.0136	0.0076	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.049233	0.01996	N	2.525700	1	0.08975	N	.	.	.	2.69	0.12268	T	2.14	0.00347	N	0.128	0.12198	-0.9678	0.37652	T	0.007	0.02439	T	10	0.004746586	0.00100	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.1017683440438472	0.10107	0.0744562594757	0.08353	0.28287139535	0.07896	T	.	.	.	-0.766824	0.00014	T	-0.861293	0.00829	T	0.000877321905358312	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.	.	-2.234250	0.00059	0.001	0.49159573139768742	0.04162	0.00073	0.00509	N	AEFBI	0.014917	0.00258	N	-1.9615160619044	0.00255	0.01095738	-1.9304477807845	0.00426	0.01883179	1.40922730603188E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	2.51	-1.26	0.08892	-2.418000	0.01111	.	.	-3.628000	0.00070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.225:0.3668:0.4082	4.786	0.12593	994	0.00715	.	.	.	.	.	.	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	0.007996	0.010101	0.009511	0.004098	0.000000	0.008621	0.012422	0.000000	0.1667	1044.04	35	chr19	54337451	.	C	G	1044.04	.	AC=2;AF=0.167;AN=12;DP=250;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.6;QD=33.68;SOR=2.093	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1064,93,0	5	1	0	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	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	1	0	0	0	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.08333	76.87	22	chr19	54463480	.	G	A	76.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.393;DP=73;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=0.793;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,5:17:87:87,0,292	5	0	1	0
chr19	54574075	54574075	G	C	splicing	LILRA2	NM_001290271:exon3:c.35-1G>C;NM_006866:exon3:c.35-1G>C;NM_001130917:exon2:c.35-1G>C	.	.	.	1	1517	4	0	0	4	0.00131666	0.9999	0.874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461200853	6.849e-06	0.0005	5.45e-06	8.263e-06	0.0016	3.46e-06	2.53e-06	0.0008	0.0006	2.989e-05	0	0	0	0	0.0016	0	0	0	0.0005	0.0031	0.0004	0.0006	0.0040	0.0004	0.0004	0.0026	0.0021	0.0006	0	0.0002	0	0.0037	0	0	0.0001	0.0005	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316628	0.55945	T	-0.192295	0.55375	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.773681	0.77302	26.7	0.92134445677484444	0.21491	0.81451	0.40852	D	AEFBI	.	.	.	0.699248564938747	0.79581	7.108415	0.438102846995638	0.63958	4.640181	0.986491730132312	0.31074	0.079382	0.02114	2	0.146754	0.03522	2	0.060301	0.00762	0	0.050693	0.00103	0	0.221492	0.31388	2.69	1.59	0.22622	2.737000	0.47066	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.2626:0.7374:0.0	7.643	0.27470	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	218.83	214	chr19	54574075	.	G	C	218.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=1022;ExcessHet=0;FS=1.961;MLEAC=1;MLEAF=0.083;MQ=54.3;MQRankSum=-7.803;QD=1.47;ReadPosRankSum=-0.491;SOR=0.949	GT:AD:DP:GQ:PL	0/1:129,20:149:99:229,0,5169	5	0	1	0
chr19	54574761	54574761	T	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T347A:p.L116Q,LILRA2:NM_001130917:exon4:c.T383A:p.L128Q,LILRA2:NM_001290271:exon5:c.T383A:p.L128Q,LILRA2:NM_006866:exon5:c.T383A:p.L128Q	.	0	1476	46	0	0	46	0.0153436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00290790361383	.	.	0.0001	0	0	0.0001	0	0	0	0.0009	.	.	.	rs780646104	0.0003	0.0040	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	0.0001	0	0.0012	0	0.0004	4.863e-05	0.0002	0.0035	0.0013	0.0034	0.0010	0.0017	0.0280	0.0012	0.0011	0.0240	0.0225	0.0001	0	0.0006	0	0.0041	0	0	0.0006	0.0009	0.0280	0.121	0.28395	T	0.354	0.26883	T	0.015	0.32288	B	0.014	0.42263	B	0.717611	0.06295	N	1.192030	1	0.08975	N	.	.	.	4.16	0.02791	T	-4.65	0.79571	D	0.255	0.32591	-0.8966	0.48331	T	0.010	0.03856	T	10	0.008085936	0.00183	T	0.002908	0.06162	T	0.027	0.05988	.	.	0.119812018005	0.11559	0.05750352958498812	0.05691	0.0473301972145	0.05155	.	.	.	0.075397	0.35168	T	-0.248917	0.14232	T	-0.595329	0.13207	T	0.0829179016543359	0.10357	T	0.579442	0.20917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	2.109239	0.26843	17.26	0.79232404653293798	0.12649	0.01805	0.05629	N	AEFDBI	0.102574	0.20573	N	-0.886363565694292	0.11166	0.5374101	-0.975825106023818	0.10330	0.5195757	0.99805711249777	0.36367	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	1.85	0.24418	-0.665000	0.05386	.	.	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.1487:0.0:0.8513	5.151	0.14337	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	0.002119	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.08333	1467.83	235	chr19	54574761	.	T	A	1467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.598;DP=1470;ExcessHet=0;FS=3.38;MLEAC=1;MLEAF=0.083;MQ=56.27;MQRankSum=-4.511;QD=3.9;ReadPosRankSum=0.286;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,58:376:99:0|1:54574759_T_C:1478,0,13138:54574759	5	0	1	0
chr19	54574778	54574778	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.A364G:p.T122A,LILRA2:NM_001130917:exon4:c.A400G:p.T134A,LILRA2:NM_001290271:exon5:c.A400G:p.T134A,LILRA2:NM_006866:exon5:c.A400G:p.T134A	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00126399251042	.	.	8.241e-05	0	0	0.0001	0	0	0	0.0005	.	.	.	rs777235606	0.0003	0.0039	0.0002	0.0004	0.0033	0.0002	0.0002	0.0030	0.0029	0	0.0001	0	0.0012	0	0.0005	4.052e-05	0.0002	0.0033	0.0014	0.0034	0.0010	0.0018	0.0302	0.0013	0.0012	0.0260	0.0244	0.0001	0	0.0008	0	0.0039	0	0	0.0006	0.0009	0.0302	0.574	0.08609	T	0.637	0.07342	T	0.0	0.02946	B	0.002	0.06944	B	0.466569	0.04901	N	1.325020	1	0.08975	N	.	.	.	3.95	0.03382	T	-1.52	0.40850	N	0.089	0.10198	-0.9240	0.44999	T	0.005	0.01688	T	10	0.004385501	0.00089	T	0.001264	0.01708	T	0.014	0.01968	.	.	0.0920862733494	0.08535	0.04518986992789734	0.04462	0.0177163298478	0.01731	.	.	.	0.022746	0.17484	T	-0.390408	0.02674	T	-0.79857	0.01939	T	0.0303807780146599	0.02049	T	0.137186	0.01298	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06069	B	.;.;.;.;.	.;.;.;.;.	0.390588	0.07619	4.285	0.54321513833683388	0.05114	0.00440	0.02147	N	AEFDBI	0.055514	0.10186	N	-1.75640243237011	0.00661	0.02850933	-1.81697909138188	0.00706	0.03145828	0.999864275575064	0.44398	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-4.3	0.03454	-1.134000	0.03340	.	.	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3297:0.1645:0.3441:0.1617	1.184	0.01737	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1524.83	235	chr19	54574778	.	A	G	1524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=1498;ExcessHet=0;FS=1.669;MLEAC=1;MLEAF=0.083;MQ=55.92;MQRankSum=-4.797;QD=3.79;ReadPosRankSum=0.906;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,61:402:99:0|1:54574778_A_G:1535,0,14076:54574778	5	0	1	0
chr19	54574788	54574788	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G374A:p.G125E,LILRA2:NM_001130917:exon4:c.G410A:p.G137E,LILRA2:NM_001290271:exon5:c.G410A:p.G137E,LILRA2:NM_006866:exon5:c.G410A:p.G137E	.	0	1478	44	0	0	44	0.0146667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0024163046378	.	.	8.239e-05	0	0	0.0001	0	0	0	0.0005	.	.	.	rs780649717	0.0003	0.0038	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	8.984e-05	0	0.0013	0	0.0005	2.881e-05	0.0002	0.0035	0.0016	0.0034	0.0012	0.0020	0.0336	0.0014	0.0013	0.0293	0.0276	0.0001	0	0.0008	0	0.0047	0	0	0.0006	0.0009	0.0336	0.109	0.41096	T	0.443	0.33780	T	0.101	0.25775	B	0.423	0.53582	B	0.201585	0.16586	N	0.540376	1	0.08975	N	.	.	.	5.95	0.00612	T	-6.59	0.91998	D	0.251	0.30574	-0.8831	0.49513	T	0.004	0.01470	T	10	0.0062812865	0.00142	T	0.002416	0.04729	T	0.036	0.09122	.	.	0.229924730088	0.22615	0.11643163137210208	0.11571	0.14237696093	0.16047	.	.	.	0.085981	0.37623	T	-0.218925	0.18139	T	-0.552247	0.17112	T	0.15286109927484	0.17329	T	0.131687	0.01141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.;.;.;.;.	.;.;.;.;.	1.540897	0.19760	14.42	0.88821344929677037	0.18282	0.00900	0.03527	N	AEFDBI	0.075445	0.15152	N	-0.99550921269753	0.08699	0.4088868	-1.12717124411306	0.07184	0.3485245	0.996781888649196	0.35006	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-0.556	0.11213	0.726000	0.25653	.	.	0.562000	0.28470	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2877:0.2383:0.474:0.0	3.001	0.05647	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1593.83	419	chr19	54574788	.	G	A	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.914;DP=2426;ExcessHet=0;FS=0.754;MLEAC=1;MLEAF=0.083;MQ=55.87;MQRankSum=-4.866;QD=3.9;ReadPosRankSum=1.29;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,63:409:99:0|1:54574778_A_G:1604,0,14306:54574778	5	0	1	0
chr19	54574820	54574820	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G406C:p.A136P,LILRA2:NM_001130917:exon4:c.G442C:p.A148P,LILRA2:NM_001290271:exon5:c.G442C:p.A148P,LILRA2:NM_006866:exon5:c.G442C:p.A148P	.	1	1485	36	0	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0015593626121	.	.	4.119e-05	0	0	0.0001	0	0	0	0.0002	0.0001153	3	26028	rs754386274	0.0002	0.0036	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0022	0	2.246e-05	0	0.0010	0	0.0004	1.441e-05	0.0001	0.0027	0.0015	0.0033	0.0011	0.0020	0.0306	0.0014	0.0013	0.0265	0.0249	0.0001	0	0.0009	0	0.0041	0	0.0034	0.0008	0.0005	0.0306	0.112	0.29158	T	0.177	0.29740	T	0.001	0.20876	B	0.001	0.23361	B	0.025726	0.01636	N	2.263410	1	0.08975	N	.	.	.	4.11	0.02916	T	-2.74	0.60348	D	0.265	0.32812	-0.9448	0.41846	T	0.010	0.03537	T	10	0.006677538	0.00151	T	0.001559	0.02471	T	0.040	0.10527	.	.	0.16115917748	0.15686	0.06741740746339941	0.06679	0.0251656476309	0.02561	.	.	.	0.077124	0.35582	T	-0.226632	0.17097	T	-0.563318	0.16066	T	0.0599034720966862	0.07154	T	0.0101704	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.17103	B	.;.;.;.;.	.;.;.;.;.	1.392494	0.18056	13.52	0.93837028780536813	0.23827	0.02299	0.06611	N	AEFDBI	0.139758	0.26145	N	-0.929862385592028	0.10149	0.4836003	-1.02276972820176	0.09285	0.4610889	0.996786216093416	0.35006	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	0.454	0.15857	0.193000	0.16921	.	.	0.562000	0.28470	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1745:0.0:0.5385:0.287	2.573	0.04508	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1658.83	458	chr19	54574820	.	G	C	1658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.636;DP=2706;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.083;MQ=54.61;MQRankSum=-4.204;QD=3.8;ReadPosRankSum=0.265;SOR=0.507	GT:AD:DP:GQ:PL	0/1:368,69:437:99:1669,0,13038	5	0	1	0
chr19	54574847	54574847	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G433C:p.E145Q,LILRA2:NM_001130917:exon4:c.G469C:p.E157Q,LILRA2:NM_001290271:exon5:c.G469C:p.E157Q,LILRA2:NM_006866:exon5:c.G469C:p.E157Q	.	1	1496	25	0	0	25	0.00828638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00157580216014	.	.	2.471e-05	0	0	0	0	0	0	0.0002	.	.	.	rs201199710	7.217e-05	0.0024	6.007e-05	8.444e-05	0.0011	6.076e-05	5.622e-05	0.0009	0.0008	0	0	0	0.0004	0	0	9.001e-07	1.664e-05	0.0011	0.0008	0.0028	0.0005	0.0012	0.0170	0.0007	0.0007	0.0139	0.0128	4.809e-05	0	0.0007	0	0.0020	0	0.0034	0.0004	0.0009	0.0170	0.005	0.63226	D	0.005	0.72224	D	0.993	0.65571	D	0.661	0.52837	P	0.496801	0.11995	N	0.732597	0.999957	0.43101	N	.	.	.	5.62	0.00808	T	-2.69	0.57435	D	0.124	0.14196	-1.0867	0.06102	T	0.015	0.05946	T	10	0.020919412	0.00491	T	0.001576	0.02497	T	0.155	0.40530	0.694	0.83126	0.456830177556	0.45309	0.09210003125198561	0.09143	0.0492381322711	0.05384	.	.	.	0.098177	0.40173	T	-0.191658	0.22015	T	-0.51308	0.20999	T	0.439549679013841	0.30412	T	0.758424	0.38228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.42346	B	.;.;.;.;.	.;.;.;.;.	1.162857	0.15522	11.91	0.95607556626178936	0.27354	0.11945	0.16962	N	AEFDBI	0.065452	0.12768	N	-0.226975208911503	0.32031	1.802126	-0.537652195164035	0.21134	1.141871	0.999566434941542	0.40425	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	0.715	0.17341	-0.197000	0.09519	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2976:0.0:0.7024:0.0	5.070	0.13937	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1440.83	503	chr19	54574847	.	G	C	1440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.553;DP=2981;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.11;MQRankSum=-5.166;QD=3.14;ReadPosRankSum=0.417;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,63:459:99:0|1:54574847_G_C:1451,0,16373:54574847	5	0	1	0
chr19	54574851	54574851	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G437A:p.G146E,LILRA2:NM_001130917:exon4:c.G473A:p.G158E,LILRA2:NM_001290271:exon5:c.G473A:p.G158E,LILRA2:NM_006866:exon5:c.G473A:p.G158E	.	1	1496	25	0	0	25	0.00828638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00158839795	.	.	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs981943540	6.112e-05	0.0019	5.185e-05	7.05e-05	0.0009	5.047e-05	4.69e-05	0.0007	0.0007	0	0	0	0.0003	0	0	1.8e-06	1.662e-05	0.0009	0.0007	0.0027	0.0004	0.0011	0.0145	0.0006	0.0006	0.0117	0.0106	4.809e-05	0	0.0006	0	0.0018	0	0.0034	0.0004	0.0005	0.0145	0.01	0.56456	D	0.039	0.58613	D	0.952	0.54136	P	0.631	0.53500	P	0.000306	0.45977	D	0.000000	0.999178	0.47278	N	.	.	.	5.23	0.01143	T	-6.12	0.90976	D	0.366	0.43223	-1.0533	0.13493	T	0.012	0.04747	T	10	0.018811762	0.00413	T	0.001588	0.02548	T	0.178	0.44724	0.503	0.59615	0.367992661779	0.36405	0.15884369085426767	0.15805	0.0697944257895	0.07817	.	.	.	0.170372	0.51809	T	-0.136942	0.30378	T	-0.434484	0.29426	T	0.925097167491913	0.58663	D	0.611839	0.23263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35829	B	.;.;.;.;.	.;.;.;.;.	2.097630	0.26686	17.20	0.8932465852093755	0.18699	0.59769	0.31007	D	AEFDBI	0.187456	0.31475	N	-0.138918388851475	0.35706	2.05445	-0.348952406798031	0.26542	1.466699	0.99997052231634	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.84	1.78	0.23918	0.709000	0.25407	.	.	0.650000	0.52971	0.002000	0.15269	0.000000	0.08366	0.021000	0.11733	0.1575:0.0:0.8425:0.0	5.832	0.17840	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1504.83	503	chr19	54574851	.	G	A	1504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.639;DP=2982;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.12;MQRankSum=-5.456;QD=3.24;ReadPosRankSum=-0.004;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,65:464:99:0|1:54574847_G_C:1515,0,16542:54574847	5	0	1	0
chr19	54574885	54574885	T	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T471G:p.H157Q,LILRA2:NM_001130917:exon4:c.T507G:p.H169Q,LILRA2:NM_001290271:exon5:c.T507G:p.H169Q,LILRA2:NM_006866:exon5:c.T507G:p.H169Q	.	0	1493	29	0	0	29	0.00961857	.	.	.	3448965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00137951337161	.	.	0.0003	0.0002	0	0.0001	0	0	0	0.0018	0.0002199	34	154602	rs759834040	1.715e-05	0.0013	1.772e-05	1.656e-05	0.0003	1.177e-05	9.95e-06	0.0002	0.0002	8.961e-05	0	0	0	0	0	0	0	0.0003	0.0003	0.0017	0.0002	0.0005	0.0057	0.0003	0.0002	0.0040	0.0034	0.0002	0	0.0001	0	0.0012	0	0	0.0001	0	0.0057	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.149978	0.18001	N	0.473494	1	0.08975	N	.	.	.	4.16	0.02791	T	3.19	0.00117	N	0.131	0.12913	-0.9580	0.39552	T	0.002	0.00585	T	10	0.003789425	0.00071	T	0.00138	0.02011	T	0.008	0.00669	0.335	0.32329	0.0884992946249	0.08302	0.021061461421286985	0.02059	0.0177108750862	0.01731	.	.	.	0.002428	0.01816	T	-0.356276	0.04344	T	-0.749542	0.03504	T	0.0190798498956005	0.00616	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22061	B	.;.;.;.;.	.;.;.;.;.	-1.451496	0.00325	0.006	0.14629828553724231	0.00329	0.00015	0.00188	N	AEFDBI	0.023985	0.01416	N	-2.42490604772946	0.00024	0.001025752	-2.3780807722097	0.00044	0.001937836	0.999997712159124	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-5.0	0.02777	-0.632000	0.05587	.	.	-4.276000	0.00035	0.000000	0.06391	.	.	0.000000	0.00833	0.1075:0.2907:0.4519:0.1499	3.365	0.06779	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1226.83	521	chr19	54574885	.	T	G	1226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=3050;ExcessHet=0;FS=1.731;MLEAC=1;MLEAF=0.083;MQ=53.95;MQRankSum=-7.492;QD=2.78;ReadPosRankSum=-0.25;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,58:441:99:0|1:54574885_T_G:1237,0,15816:54574885	5	0	1	0
chr19	54574886	54574886	T	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T472C:p.S158P,LILRA2:NM_001130917:exon4:c.T508C:p.S170P,LILRA2:NM_001290271:exon5:c.T508C:p.S170P,LILRA2:NM_006866:exon5:c.T508C:p.S170P	.	0	1493	29	0	0	29	0.00961857	.	.	.	3448964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.000644886848309	.	.	0.0003	0.0002	0	0.0001	0	0	0	0.0018	.	.	.	rs765734952	1.646e-05	0.0013	1.636e-05	1.657e-05	0.0003	1.114e-05	9.36e-06	0.0002	0.0002	5.974e-05	0	0	0	0	0	0	0	0.0003	0.0004	0.0017	0.0002	0.0006	0.0060	0.0003	0.0003	0.0042	0.0036	0.0002	0	0.0002	0	0.0012	0	0	0.0001	0	0.0060	0.643	0.10345	T	0.411	0.14500	T	0.001	0.07471	B	0.002	0.06944	B	0.000573	0.00639	N	4.184540	1	0.08975	N	.	.	.	3.95	0.03382	T	1.61	0.01051	N	0.1	0.08227	-0.9514	0.40730	T	0.005	0.01833	T	10	0.005929768	0.00133	T	6.45E-4	0.00334	T	0.025	0.05312	.	.	0.101711395817	0.09552	0.11514198776564773	0.11442	0.018622771246	0.01812	.	.	.	0.002732	0.02125	T	-0.457435	0.01020	T	-0.658181	0.08390	T	0.0217310456294662	0.00879	T	0.00937906	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02065	B	.;.;.;.;.	.;.;.;.;.	-0.830834	0.01048	0.045	0.16374500408034967	0.00436	0.00098	0.00638	N	AEFDBI	0.040467	0.06023	N	-1.71864401352952	0.00777	0.03359353	-1.72154388396389	0.01045	0.04690222	0.999946731061222	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-0.98	0.09747	-3.101000	0.00666	.	.	-0.494000	0.05037	0.000000	0.06391	.	.	0.000000	0.00833	0.2186:0.5072:0.0:0.2741	2.77	0.05004	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1217.83	521	chr19	54574886	.	T	C	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=3048;ExcessHet=0;FS=1.737;MLEAC=1;MLEAF=0.083;MQ=53.91;MQRankSum=-7.525;QD=2.74;ReadPosRankSum=-0.118;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,58:444:99:0|1:54574885_T_G:1228,0,15942:54574885	5	0	1	0
chr19	54574889	54574889	-	GT	exonic	LILRA2	.	frameshift insertion	LILRA2:NM_001290270:exon3:c.475_476insGT:p.H159Rfs*16,LILRA2:NM_001130917:exon4:c.511_512insGT:p.H171Rfs*16,LILRA2:NM_001290271:exon5:c.511_512insGT:p.H171Rfs*16,LILRA2:NM_006866:exon5:c.511_512insGT:p.H171Rfs*16	.	0	1492	30	0	0	30	0.00995355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	7.68e-05	2	26028	rs764504246	1.51e-05	0.0015	1.5e-05	1.519e-05	0.0003	9.88e-06	8.44e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	0.0003	0.0017	0.0001	0.0004	0.0053	0.0002	0.0002	0.0036	0.0031	0	0	0.0003	0	0.0008	0	0	8.831e-05	0	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1175.79	521	chr19	54574889	.	C	CGT	1175.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.946;DP=3042;ExcessHet=0;FS=2.81;MLEAC=1;MLEAF=0.083;MQ=53.96;MQRankSum=-7.628;QD=2.65;ReadPosRankSum=0.099;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,56:443:99:0|1:54574885_T_G:1186,0,16081:54574885	5	0	1	0
chr19	54574892	54574893	GC	-	exonic	LILRA2	.	frameshift deletion	LILRA2:NM_001290270:exon3:c.478_479del:p.A160Pfs*27,LILRA2:NM_001130917:exon4:c.514_515del:p.A172Pfs*27,LILRA2:NM_001290271:exon5:c.514_515del:p.A172Pfs*27,LILRA2:NM_006866:exon5:c.514_515del:p.A172Pfs*27	.	0	1491	31	0	0	31	0.0102887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	7.68e-05	2	26028	rs752012965	1.99e-05	0.0015	1.909e-05	2.072e-05	0.0003	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	5.09e-05	0	0	0	0	0.0003	0.0003	0.0017	0.0002	0.0004	0.0055	0.0002	0.0002	0.0038	0.0033	0	0	0.0003	0	0.0010	0	0	0.0001	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1223.79	521	chr19	54574891	.	TGC	T	1223.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.906;DP=3048;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=-7.562;QD=2.73;ReadPosRankSum=0.332;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,58:449:99:0|1:54574885_T_G:1234,0,16243:54574885	5	0	1	0
chr19	54574901	54574901	T	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T487G:p.W163G,LILRA2:NM_001130917:exon4:c.T523G:p.W175G,LILRA2:NM_001290271:exon5:c.T523G:p.W175G,LILRA2:NM_006866:exon5:c.T523G:p.W175G	.	1	1490	31	0	0	31	0.0102956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00187326089428	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	.	.	.	rs780051526	3.981e-05	0.0016	3.137e-05	4.836e-05	0.0006	3.123e-05	2.856e-05	0.0005	0.0004	0	0	0	0.0002	0	0	8.997e-07	0	0.0006	0.0005	0.0017	0.0003	0.0006	0.0104	0.0004	0.0004	0.0080	0.0072	0	0	0.0002	0	0.0021	0	0	0.0002	0	0.0104	0.417	0.16038	T	0.324	0.18903	T	0.0	0.02946	B	0.001	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	4.2	0.02689	T	-1.24	0.41809	N	0.272	0.30800	-0.9237	0.45041	T	0.006	0.02018	T	9	0.005342692	0.00117	T	0.001873	0.03272	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.0748868165562978	0.07424	0.0212270053355	0.02100	.	.	.	0.005786	0.05238	T	-0.263079	0.12541	T	-0.615671	0.11528	T	0.0270832638217685	0.01556	T	0.0117988	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.;.;.;.;.	.;.;.;.;.	0.350341	0.07236	3.832	0.38661603664306948	0.02621	0.00346	0.01789	N	AEFDBI	0.047591	0.08031	N	-1.52790676124202	0.01668	0.07297624	-1.64740577932005	0.01389	0.06277342	0.999998148091889	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.4	-4.8	0.02957	-1.006000	0.03781	.	.	-0.260000	0.06918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.4913:0.2218	5.563	0.16437	958	0.09170	Immunoglobulin subtype;.;.;.;Immunoglobulin subtype	.	.	.	.	.	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	0	0	0.004228	0.005051	0.002717	0.000000	0.000000	0.008621	0.003049	0.011364	0.08333	1204.83	521	chr19	54574901	.	T	G	1204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=3044;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=54.1;MQRankSum=-6.409;QD=2.75;ReadPosRankSum=-0.476;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,58:438:99:0|1:54574885_T_G:1215,0,15679:54574885	5	0	1	0
chr19	54575411	54575411	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C775T:p.P259S,LILRA2:NM_001130917:exon5:c.C811T:p.P271S,LILRA2:NM_001290271:exon6:c.C811T:p.P271S,LILRA2:NM_006866:exon6:c.C811T:p.P271S	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00279553	0.0010	0	0	0.0006	0	5.998e-05	0.0011	0.0067	0.0005379	14	26028	rs544437859	2.054e-06	0.0002	1.362e-06	2.753e-06	0.0002	5.5e-07	1.5e-07	3.88e-06	1.45e-06	0	0	0	0	0	0.0002	0	0	2.338e-05	0.0002	0.0014	0.0002	0.0003	0.0053	0.0002	0.0001	0.0036	0.0031	4.818e-05	0	6.555e-05	0	0.0006	0	0	7.37e-05	0	0.0053	0.158	0.23905	T	0.501	0.17478	T	0.316	0.32901	B	0.18	0.43788	B	0.412649	0.04601	N	1.458510	1	0.08975	N	.	.	.	5.88	0.00632	T	-4.4	0.83695	D	0.067	0.04547	-0.9181	0.45811	T	0.004	0.01261	T	10	0.0032227635	0.00055	T	.	.	.	0.032	0.07718	0.222	0.14518	0.206339911435	0.20273	0.0510655434313226	0.05048	0.0197667107922	0.01940	.	.	.	0.067801	0.33295	T	-0.298551	0.08798	T	-0.666625	0.07826	T	0.571051776409149	0.35274	D	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.18910	B	.;.;.;.;.	.;.;.;.;.	0.278433	0.06553	3.041	0.98640014734058978	0.44042	0.00892	0.03507	N	AEFBI	0.065752	0.12842	N	-0.90955311105907	0.10617	0.5082488	-1.06013243658822	0.08496	0.4180606	0.996876830286367	0.35080	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	-0.757	0.10496	-0.154000	0.10116	.	.	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.5181:0.0:0.4819	4.691	0.12165	958	0.09170	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	45.83	43	chr19	54575411	.	C	T	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-3.317;QD=0.47;ReadPosRankSum=-2.387;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:56:0|1:54575397_G_T:56,0,3755:54575397	5	0	1	0
chr19	54575414	54575414	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C778A:p.Q260K,LILRA2:NM_001130917:exon5:c.C814A:p.Q272K,LILRA2:NM_001290271:exon6:c.C814A:p.Q272K,LILRA2:NM_006866:exon6:c.C814A:p.Q272K	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00279553	0.0010	0	0	0.0005	0	7.5e-05	0.0011	0.0067	0.0005379	14	26028	rs561028150	2.739e-06	0.0002	1.362e-06	4.13e-06	0.0002	6.4e-07	4.3e-07	9.33e-06	4.59e-06	0	0	0	0	0	0.0002	0	0	3.512e-05	0.0002	0.0014	0.0002	0.0003	0.0053	0.0002	0.0001	0.0036	0.0031	4.817e-05	0	6.551e-05	0	0.0006	0	0	7.373e-05	0	0.0053	0.052	0.39097	T	0.217	0.33219	T	0.522	0.58077	P	0.301	0.64720	B	0.511507	0.05149	N	1.367040	1	0.08975	N	.	.	.	5.72	0.00726	T	-3.45	0.70067	D	0.169	0.17966	-0.9799	0.35025	T	0.011	0.03949	T	10	0.006888509	0.00156	T	.	.	.	0.022	0.04323	0.393	0.41770	0.376216005999	0.37235	0.059226354851520294	0.05862	0.019679029887	0.01931	.	.	.	0.05899	0.30995	T	-0.240409	0.15296	T	-0.583107	0.14269	T	0.615385353565216	0.37018	D	0.543646	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14888	B	.;.;.;.;.	.;.;.;.;.	1.538649	0.19735	14.41	0.94284781728304035	0.24582	0.01537	0.05053	N	AEFBI	0.079929	0.16152	N	-0.358116978636166	0.26975	1.476411	-0.630532475807744	0.18710	1.000723	0.997573302361132	0.35775	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	1.21	0.20240	0.032000	0.13620	.	.	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.0:0.8154:0.0:0.1846	4.761	0.12483	958	0.09170	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	51.83	43	chr19	54575414	.	C	A	51.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.69;MQRankSum=-3.279;QD=0.54;ReadPosRankSum=-2.568;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,8:96:62:0|1:54575397_G_T:62,0,3671:54575397	5	0	1	0
chr19	54575501	54575501	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C865T:p.L289F,LILRA2:NM_001130917:exon5:c.C901T:p.L301F,LILRA2:NM_001290271:exon6:c.C901T:p.L301F,LILRA2:NM_006866:exon6:c.C901T:p.L301F	.	3	1448	71	0	0	71	0.0239299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.0277556	0.0120	0.0143	0.0037	0.0068	0	0.0022	0.01	0.0637	0.0105109	1625	154602	rs113830659	0.0013	0.0054	0.0011	0.0016	0.0141	0.0013	0.0013	0.0131	0.0126	0.0141	0.0016	0	0.0021	1.872e-05	0.0067	0.0002	0.0022	0.0117	0.0072	0.0078	0.0064	0.0080	0.0610	0.0068	0.0067	0.0552	0.0530	0.0139	0	0.0052	0	0.0070	0	0.0068	0.0014	0.0061	0.0610	0.061	0.43708	T	0.116	0.41239	T	0.023	0.22415	B	0.366	0.43381	B	0.344518	0.04208	N	1.657160	1	0.08975	N	.	.	.	5.69	0.00751	T	-3.16	0.67359	D	0.035	0.03841	-0.9646	0.38290	T	0.003	0.00929	T	10	0.0024011433	0.00036	T	.	.	.	0.029	0.06676	.	.	.	.	0.019670339061872513	0.01920	0.10348319282	0.11702	.	.	.	0.055189	0.29935	T	-0.629256	0.00097	T	-0.663033	0.08063	T	0.0454464772058766	0.04683	T	0.0894911	0.00906	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.18206	B	.;.;.;.;.	.;.;.;.;.	0.427022	0.07975	4.688	0.99202920256972027	0.55351	0.00706	0.02994	N	AEFBI	0.076200	0.15323	N	-0.905288940404492	0.10717	0.5135226	-1.09411936741123	0.07815	0.3816683	0.997087644278911	0.35260	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.92	-1.1	0.09367	-2.213000	0.01308	.	.	-1.053000	0.01634	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4175:0.4415:0.141	4.704	0.12220	958	0.09170	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0	0	0.030191	0.005051	0.027174	0.024590	0.000000	0.017241	0.024540	0.068702	0.08333	560.83	43	chr19	54575501	.	C	T	560.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=284;ExcessHet=0;FS=7.621;MLEAC=1;MLEAF=0.083;MQ=58.64;MQRankSum=-5.553;QD=7.38;ReadPosRankSum=3.16;SOR=1.824	GT:AD:DP:GQ:PL	0/1:54,22:76:99:571,0,1750	5	0	1	0
chr19	54575936	54575937	GC	-	exonic	LILRA2	.	frameshift deletion	LILRA2:NM_001290270:exon5:c.1046_1047del:p.G349Afs*18,LILRA2:NM_001130917:exon6:c.1082_1083del:p.G361Afs*18,LILRA2:NM_001290271:exon7:c.1082_1083del:p.G361Afs*18,LILRA2:NM_006866:exon7:c.1082_1083del:p.G361Afs*18	.	7	1438	77	0	0	77	0.0260752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-05	0	0	0	0	0	0	0.0006	0.0001153	3	26028	rs746833739	4.692e-05	0.0041	3.701e-05	5.695e-05	0.0005	3.759e-05	3.441e-05	0.0004	0.0003	0	2.243e-05	0	0.0003	0	0.0004	8.134e-06	8.349e-05	0.0005	0.0014	0.0032	0.0011	0.0017	0.0312	0.0013	0.0012	0.0270	0.0254	0.0001	0	0.0007	0	0.0033	0	0.0034	0.0006	0.0010	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	337.79	41	chr19	54575935	.	GGC	G	337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=582;ExcessHet=0;FS=4.324;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-6.488;QD=1.66;ReadPosRankSum=-1.801;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,22:204:99:0|1:54575935_GGC_G:348,0,7536:54575935	5	0	1	0
chr19	54575938	54575938	-	TT	exonic	LILRA2	.	frameshift insertion	LILRA2:NM_001290270:exon5:c.1048_1049insTT:p.H350Lfs*7,LILRA2:NM_001130917:exon6:c.1084_1085insTT:p.H362Lfs*7,LILRA2:NM_001290271:exon7:c.1084_1085insTT:p.H362Lfs*7,LILRA2:NM_006866:exon7:c.1084_1085insTT:p.H362Lfs*7	.	8	1437	77	0	0	77	0.0260928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-05	0	0	0	0	0	0	0.0006	0.0001153	3	26028	rs757134368	4.74e-05	0.0025	3.603e-05	5.89e-05	0.0005	3.798e-05	3.476e-05	0.0004	0.0003	0	2.245e-05	0	0.0003	0	0.0004	6.402e-06	0.0001	0.0005	0.0015	0.0032	0.0012	0.0018	0.0318	0.0013	0.0012	0.0275	0.0259	0.0001	0	0.0007	0	0.0033	0	0.0034	0.0006	0.0010	0.0318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	337.79	41	chr19	54575938	.	C	CTT	337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=580;ExcessHet=0;FS=4.324;MLEAC=1;MLEAF=0.083;MQ=59.55;MQRankSum=-6.488;QD=1.66;ReadPosRankSum=-2.767;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,22:204:99:0|1:54575935_GGC_G:348,0,7536:54575935	5	0	1	0
chr19	54575951	54575951	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.A1061G:p.H354R,LILRA2:NM_001130917:exon6:c.A1097G:p.H366R,LILRA2:NM_001290271:exon7:c.A1097G:p.H366R,LILRA2:NM_006866:exon7:c.A1097G:p.H366R	.	7	1432	83	0	0	83	0.0281642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00200503799273	.	.	8.237e-05	0	0	0	0	0	0	0.0006	.	.	.	rs766774826	0.0001	0.0038	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0011	0	2.247e-05	0	0.0006	0	0.0009	2.713e-05	0.0002	0.0014	0.0019	0.0034	0.0015	0.0024	0.0408	0.0017	0.0017	0.0359	0.0341	0.0002	0	0.0009	0	0.0043	0	0.0034	0.0009	0.0014	0.0408	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.346922	0.13876	N	0.591975	1	0.08975	N	.	.	.	4.1	0.02944	T	1.74	0.01688	N	0.09	0.06854	-0.9345	0.43470	T	0.003	0.00961	T	9	0.0033362806	0.00058	T	0.002005	0.03615	T	0.009	0.00846	.	.	0.0401082797425	0.02173	0.019379866631937952	0.01891	0.0183386221983	0.01791	.	.	.	.	.	.	-0.718742	0.00028	T	-0.804246	0.01798	T	0.0519268294221934	0.05834	T	0.340266	0.07351	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00949	B	.;.;.;.	.;.;.;.	-1.506743	0.00291	0.005	0.29319223597066807	0.01549	0.00078	0.00535	N	AEFDBI	0.041291	0.06258	N	-1.9078500817018	0.00331	0.01420894	-1.96010492294087	0.00371	0.01637677	0.999986247722522	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.89	-3.78	0.04049	-1.524000	0.02337	.	.	-1.103000	0.01505	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7374:0.0:0.2626:0.0	8.195	0.30554	958	0.09170	.;.;.;Immunoglobulin|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	566.83	41	chr19	54575951	.	A	G	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.192;DP=585;ExcessHet=0;FS=5.181;MLEAC=1;MLEAF=0.083;MQ=59.5;MQRankSum=-7.02;QD=2.67;ReadPosRankSum=-0.776;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,27:212:99:0|1:54575951_A_G:577,0,7643:54575951	5	0	1	0
chr19	54575962	54575962	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1072C:p.E358Q,LILRA2:NM_001130917:exon6:c.G1108C:p.E370Q,LILRA2:NM_001290271:exon7:c.G1108C:p.E370Q,LILRA2:NM_006866:exon7:c.G1108C:p.E370Q	.	7	1434	81	0	0	81	0.0274669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820011916341	.	.	9.885e-05	0	0	0	0	0	0	0.0007	.	.	.	rs748996384	0.0003	0.0034	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	0.0010	3.744e-05	0.0016	3.159e-05	0.0003	0.0037	0.0022	0.0035	0.0018	0.0027	0.0468	0.0021	0.0020	0.0417	0.0397	0.0002	0	0.0011	0	0.0055	0	0.0068	0.0010	0.0014	0.0468	0.711	0.04226	T	0.816	0.26798	T	0.0	0.02946	B	0.009	0.14300	B	0.124018	0.02751	N	2.082370	1	0.08975	N	.	.	.	4.09	0.02973	T	0.24	0.04533	N	0.049	0.03841	-0.9304	0.44080	T	0.005	0.01542	T	9	0.0030996501	0.00051	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.115124310173	0.11017	0.03234789830465621	0.03182	0.0177436046835	0.01731	.	.	.	0.024564	0.18538	T	-0.412668	0.01908	T	-0.830546	0.01252	T	0.033527800751449	0.02558	T	0.119188	0.00918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.05623	B	.;.;.;.;.	.;.;.;.;.	-1.599909	0.00240	0.004	0.44068573390639976	0.03362	0.00054	0.00410	N	AEFDBI	0.051525	0.09111	N	-2.06848347437987	0.00150	0.006427303	-2.15654306598233	0.00140	0.006158041	0.999999765694489	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.72	-5.45	0.02411	-5.434000	0.00146	.	.	-4.283000	0.00034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1965:0.4278:0.3757:0.0	6.544	0.21596	958	0.09170	.;.;.;Immunoglobulin|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	738.83	41	chr19	54575962	.	G	C	738.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=594;ExcessHet=0;FS=4.612;MLEAC=1;MLEAF=0.083;MQ=59.45;MQRankSum=-6.962;QD=3.36;ReadPosRankSum=-0.541;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,32:220:99:0|1:54575951_A_G:749,0,7725:54575951	5	0	1	0
chr19	54576061	54576061	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.C1171T:p.P391S,LILRA2:NM_001130917:exon6:c.C1207T:p.P403S,LILRA2:NM_001290271:exon7:c.C1207T:p.P403S,LILRA2:NM_006866:exon7:c.C1207T:p.P403S	.	6	1438	77	1	0	79	0.0267343	.	.	.	2364208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.000857787087528	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0003074	8	26028	rs182749996	0.0002	0.0033	0.0001	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	0	6.739e-05	0	0.0005	0	0.0028	2.791e-05	0.0002	0.0024	0.0015	0.0034	0.0010	0.0019	0.0317	0.0013	0.0013	0.0275	0.0259	9.63e-05	0	0.0005	0	0.0037	0	0.0068	0.0007	0.0019	0.0317	0.023	0.48642	D	0.038	0.57587	D	0.974	0.57829	D	0.677	0.53365	P	0.006683	0.31864	U	0.000000	1	0.08975	N	.	.	.	5.59	0.00834	T	-6.89	0.93257	D	0.134	0.26354	-0.9450	0.41814	T	0.006	0.02206	T	9	0.0064958334	0.00147	T	8.58E-4	0.00755	T	0.033	0.08068	.	.	0.32306181527	0.31918	0.1124112329446771	0.11170	0.023310643868	0.02366	.	.	.	0.152754	0.49329	T	-0.2361	0.15851	T	-0.576918	0.14820	T	0.564461350440979	0.35024	D	0.773323	0.40460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.43828	B	.;.;.;.;.	.;.;.;.;.	1.197033	0.15889	12.17	0.99322838956280968	0.59469	0.00409	0.02034	N	AEFBI	0.067726	0.13329	N	-0.495986366758654	0.22212	1.184427	-0.765696670117313	0.15337	0.806141	0.999580263717037	0.40607	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	0.020	0.13445	0.537000	0.22854	.	.	0.420000	0.20791	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5768:0.26:0.1632	3.655	0.07756	958	0.09170	.;.;.;Immunoglobulin|Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0	0	0.001514	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1306.83	41	chr19	54576061	.	C	T	1306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=611;ExcessHet=0;FS=0.62;MLEAC=1;MLEAF=0.083;MQ=57.28;MQRankSum=-8.447;QD=5.51;ReadPosRankSum=0.634;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,46:237:99:0|1:54576061_C_T:1317,0,7668:54576061	5	0	1	0
chr19	54576095	54576095	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.A1205G:p.E402G,LILRA2:NM_001130917:exon6:c.A1241G:p.E414G,LILRA2:NM_001290271:exon7:c.A1241G:p.E414G,LILRA2:NM_006866:exon7:c.A1241G:p.E414G	.	4	1446	71	1	0	73	0.0246206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00130392659312	.	.	4.121e-05	0	0	0	0	0	0.0011	0.0002	7.68e-05	2	26028	rs752455085	2.474e-05	0.0021	1.092e-05	3.876e-05	0.0004	1.811e-05	1.608e-05	0.0003	0.0002	0	0	0	7.608e-05	0	0.0004	8.999e-07	1.663e-05	0.0004	0.0003	0.0023	0.0002	0.0004	0.0080	0.0003	0.0002	0.0059	0.0052	2.405e-05	0	6.551e-05	0	0.0006	0	0.0034	0.0001	0.0005	0.0080	0.009	0.57480	D	0.031	0.57104	D	0.024	0.19075	B	0.027	0.21085	B	0.797580	0.06750	N	1.150370	1	0.08975	N	.	.	.	5.52	0.00903	T	-5.14	0.84035	D	0.147	0.20660	-0.9529	0.40468	T	0.008	0.02842	T	10	0.020633489	0.00479	T	0.001304	0.01809	T	0.042	0.11227	.	.	0.258283824007	0.25425	0.17240846276338445	0.17160	0.0184478882932	0.01799	.	.	.	0.330799	0.70095	T	-0.218226	0.18237	T	-0.551243	0.17207	T	0.457700669765472	0.31081	T	0.411059	0.10645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.50826	B	.;.;.;.;.	.;.;.;.;.	2.429465	0.31252	18.69	0.97840096727954673	0.36325	0.01213	0.04311	N	AEFBI	0.105226	0.21032	N	-0.726366040770455	0.15282	0.7688647	-0.905613267457165	0.11962	0.6125532	0.99958621647327	0.40607	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-0.272	0.12280	-0.092000	0.11094	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.468:0.0:0.0:0.532	4.674	0.12089	958	0.09170	.;.;.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	893.83	175	chr19	54576095	.	A	G	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.266;DP=1065;ExcessHet=0;FS=2.552;MLEAC=1;MLEAF=0.083;MQ=56.54;MQRankSum=-6.943;QD=4.3;ReadPosRankSum=-0.506;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,34:208:99:0|1:54576061_C_T:904,0,7204:54576061	5	0	1	0
chr19	54576096	54576096	G	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1206T:p.E402D,LILRA2:NM_001130917:exon6:c.G1242T:p.E414D,LILRA2:NM_001290271:exon7:c.G1242T:p.E414D,LILRA2:NM_006866:exon7:c.G1242T:p.E414D	.	4	1446	71	1	0	73	0.0246206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00108645451657	.	.	4.121e-05	0	0	0	0	0	0.0011	0.0002	7.68e-05	2	26028	rs758002350	2.061e-05	0.0020	9.553e-06	3.183e-05	0.0003	1.462e-05	1.269e-05	0.0002	0.0002	0	0	0	5.072e-05	0	0.0002	8.999e-07	0	0.0003	0.0003	0.0022	0.0002	0.0004	0.0073	0.0002	0.0002	0.0053	0.0046	2.405e-05	0	6.548e-05	0	0.0006	0	0.0034	0.0001	0.0005	0.0073	0.012	0.55530	D	0.044	0.49663	D	0.236	0.30770	B	0.081	0.28987	B	0.797580	0.06750	N	1.150370	1	0.08975	N	.	.	.	5.58	0.00843	T	-2.37	0.52938	N	0.099	0.19190	-0.9764	0.35816	T	0.009	0.03359	T	10	0.022006541	0.00539	T	0.001086	0.01263	T	0.039	0.10176	0.25	0.18757	0.347438807231	0.34349	0.07781766450802029	0.07717	0.0362886815385	0.03832	.	.	.	0.045711	0.27205	T	-0.269126	0.11855	T	-0.624357	0.10846	T	0.0787913948567444	0.09832	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.49402	B	.;.;.;.;.	.;.;.;.;.	0.937480	0.13128	9.632	0.99576457625282155	0.72742	0.01009	0.03809	N	AEFBI	0.100134	0.20141	N	-0.560041468858656	0.20170	1.061327	-0.816668709967553	0.14091	0.7345222	0.999759161273011	0.42595	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-2.09	0.06831	-0.228000	0.09119	.	.	-0.354000	0.05547	0.029000	0.20367	0.000000	0.08366	0.037000	0.13953	0.1566:0.0:0.3828:0.4606	3.014	0.05685	958	0.09170	.;.;.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	924.83	175	chr19	54576096	.	G	T	924.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=1063;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.083;MQ=56.47;MQRankSum=-6.991;QD=4.49;ReadPosRankSum=-0.56;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,35:206:99:0|1:54576061_C_T:935,0,7075:54576061	5	0	1	0
chr19	54576100	54576100	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1210A:p.V404M,LILRA2:NM_001130917:exon6:c.G1246A:p.V416M,LILRA2:NM_001290271:exon7:c.G1246A:p.V416M,LILRA2:NM_006866:exon7:c.G1246A:p.V416M	.	5	1440	71	1	5	78	0.0247206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0011962674978	.	.	5.771e-05	0	0	0	0	4.501e-05	0.0011	0.0002	5.82e-05	9	154602	rs10408046	5.559e-05	0.0015	5.046e-05	6.079e-05	0.0003	4.558e-05	4.169e-05	0.0002	0.0002	0	0	0	5.063e-05	0	0	4.769e-05	3.321e-05	0.0003	0.0003	0.0019	0.0002	0.0003	0.0054	0.0002	0.0002	0.0037	0.0032	4.811e-05	0	6.552e-05	0	0.0006	0	0.0034	0.0001	0.0009	0.0054	0.253	0.16958	T	0.167	0.30828	T	0.205	0.29827	B	0.059	0.26602	B	0.020151	0.01526	N	3.622570	1	0.08975	N	.	.	.	5.62	0.00808	T	-1.36	0.35399	N	0.034	0.05037	-0.9468	0.41515	T	0.003	0.01092	T	10	0.015474051	0.00325	T	0.001196	0.01533	T	0.011	0.01250	.	.	0.141422826196	0.13715	0.05683966932661542	0.05624	0.0189071063277	0.01841	.	.	.	0.016665	0.13730	T	-0.499424	0.00576	T	-0.786036	0.02276	T	0.0920301612651367	0.11456	T	0.310069	0.06017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.27100	B	.;.;.;.;.	.;.;.;.;.	-0.320499	0.02529	0.302	0.90651536528474919	0.19903	0.00072	0.00504	N	AEFBI	0.055389	0.10154	N	-1.33766980411152	0.03254	0.1450588	-1.51445282475192	0.02233	0.1023704	0.999990549357188	0.74766	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-4.84	0.02920	-4.161000	0.00321	.	.	-1.328000	0.01220	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.6095:0.1766:0.2139:0.0	5.064	0.13908	958	0.09170	.;.;.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	930.83	175	chr19	54576100	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=1061;ExcessHet=0;FS=1.586;MLEAC=1;MLEAF=0.083;MQ=56.44;MQRankSum=-6.933;QD=4.56;ReadPosRankSum=-1.043;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,35:204:99:0|1:54576061_C_T:941,0,6991:54576061	5	0	1	0
chr19	54577629	54577629	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.C1420T:p.H474Y	.	424	1072	26	0	0	26	0.0119816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs895049763	2.292e-05	0.0008	1.037e-05	3.598e-05	0.0003	1.594e-05	1.355e-05	0.0002	0.0002	0	3.543e-05	0	7.828e-05	0	0	0	2.415e-05	0.0003	0.0032	0.0037	0.0024	0.0041	0.0654	0.0030	0.0029	0.0594	0.0571	0.0003	0	0.0016	0	0.0066	0	0.0068	0.0015	0.0028	0.0654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	100.83	34	chr19	54577629	.	C	T	100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.71;MQRankSum=-4.726;QD=1.74;ReadPosRankSum=-1.107;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,7:58:99:0|1:54577603_G_C:111,0,2013:54577603	5	0	1	0
chr19	54577671	54577671	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.G1462C:p.G488R	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010842092	3.708e-05	0.0006	2.423e-05	5.048e-05	0.0005	2.777e-05	2.462e-05	0.0004	0.0003	0	0	0	0.0002	0	0	3.262e-06	4.84e-05	0.0005	0.0025	0.0037	0.0018	0.0033	0.0541	0.0023	0.0022	0.0486	0.0464	0.0002	0	0.0014	0	0.0053	0	0	0.0010	0.0028	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	99.83	34	chr19	54577671	.	G	C	99.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.78;MQRankSum=-4.171;QD=1.47;ReadPosRankSum=1.95;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,7:68:99:0|1:54577671_G_C:110,0,2488:54577671	5	0	1	0
chr19	54577674	54577674	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.C1465A:p.H489N	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1022519764	4.771e-05	0.0006	2.943e-05	6.674e-05	0.0006	3.737e-05	3.347e-05	0.0005	0.0004	0	0	0	0.0002	0	0.0002	4.351e-06	4.841e-05	0.0006	0.0024	0.0037	0.0017	0.0032	0.0521	0.0022	0.0022	0.0467	0.0446	0.0002	0	0.0014	0	0.0051	0	0	0.0010	0.0028	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	96.83	34	chr19	54577674	.	C	A	96.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.987;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.78;MQRankSum=-4.205;QD=1.4;ReadPosRankSum=2.06;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,7:69:99:0|1:54577671_G_C:107,0,2562:54577671	5	0	1	0
chr19	54587210	54587210	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1229C:p.G410A,LILRA2:NM_001130917:exon8:c.G1316C:p.G439A,LILRA2:NM_006866:exon8:c.G1265C:p.G422A	.	426	1032	64	0	0	64	0.0300752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0139776	0.0085	0.0002	0.0010	0.0044	0	0.0011	0.0077	0.0543	0.0029968	78	26028	rs549778374	0.0032	0.0048	0.0019	0.0045	0.0423	0.0031	0.0031	0.0411	0.0406	0.0002	0.0016	3.827e-05	0.0072	5.616e-05	0.0098	0.0005	0.0030	0.0423	0.0036	0.0038	0.0026	0.0046	0.0718	0.0034	0.0033	0.0655	0.0631	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0718	0.672	0.06648	T	0.432	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	6.93	0.00476	T	-1.11	0.28703	N	0.069	0.14480	-0.9664	0.37934	T	0.000	0.00152	T	9	0.0043988824	0.00089	T	.	.	.	0.021	0.04004	.	.	0.144782658237	0.14088	0.09380951238612284	0.09312	0.0177545150975	0.01741	.	.	.	0.00909	0.08297	T	-0.715138	0.00030	T	-0.789635	0.02174	T	0.00213305777738344	0.00022	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.15743	B	.;.;.;.;.	.;.;.;.;.	-1.276378	0.00458	0.010	0.60115433686689967	0.06385	0.00015	0.00188	N	AEFDBI	0.030682	0.03135	N	-1.75934251174026	0.00652	0.02814231	-1.78598076850476	0.00805	0.03593392	0.0102067649705677	0.11985	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-4.57	0.03178	-2.931000	0.00754	.	.	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3836:0.2676:0.2001:0.1487	0.800	0.01005	952	0.10565	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1873.83	40	chr19	54587210	.	G	C	1873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=435;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=59.54;MQRankSum=-6.466;QD=7.32;ReadPosRankSum=-0.959;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,59:256:99:0|1:54587200_G_C:1884,0,8094:54587200	5	0	1	0
chr19	54587213	54587213	A	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.A1232C:p.Q411P,LILRA2:NM_001130917:exon8:c.A1319C:p.Q440P,LILRA2:NM_006866:exon8:c.A1268C:p.Q423P	.	430	1028	64	0	0	64	0.0301887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.0139776	0.0085	0.0002	0.0010	0.0046	0	0.0011	0.0077	0.0542	0.0029968	78	26028	rs570066633	0.0032	0.0049	0.0019	0.0045	0.0424	0.0031	0.0031	0.0412	0.0407	0.0002	0.0016	3.826e-05	0.0073	5.616e-05	0.0104	0.0005	0.0031	0.0424	0.0037	0.0038	0.0027	0.0047	0.0727	0.0034	0.0033	0.0664	0.0639	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0727	0.515	0.25055	T	0.316	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.04	0.00469	T	0.76	0.01978	N	0.118	0.12198	-1.0122	0.26228	T	0.001	0.00255	T	9	0.003727883	0.00069	T	.	.	.	0.030	0.07022	.	.	0.124217242631	0.12060	0.07027568206350028	0.06964	0.0193832374555	0.01897	.	.	.	0.002322	0.01720	T	-0.625162	0.00102	T	-0.66039	0.08240	T	0.0015371141011766	0.00015	T	0.188181	0.01975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02173	B	.;.;.;.;.	.;.;.;.;.	0.096213	0.04987	1.547	0.54791310513740121	0.05209	0.00011	0.00159	N	AEFDBI	0.028505	0.02523	N	-1.34639214785518	0.03162	0.1408191	-1.34854468875994	0.03823	0.1791178	9.66727770407858E-4	0.08067	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	1.38	0.21262	1.052000	0.30039	.	.	-0.210000	0.08370	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3078:0.6922:0.0:0.0	6.258	0.20093	952	0.10565	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1957.83	40	chr19	54587213	.	A	C	1957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=437;ExcessHet=0;FS=3.374;MLEAC=1;MLEAF=0.083;MQ=59.54;MQRankSum=-6.358;QD=7.59;ReadPosRankSum=-2.08;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,61:258:99:0|1:54587200_G_C:1968,0,8088:54587200	5	0	1	0
chr19	54587219	54587219	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.C1238A:p.P413H,LILRA2:NM_001130917:exon8:c.C1325A:p.P442H,LILRA2:NM_006866:exon8:c.C1274A:p.P425H	.	429	1029	64	0	0	64	0.0301602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.0084	0.0002	0.0009	0.0046	0	0.0011	0.0077	0.0540	0.0003458	9	26028	rs757517756	0.0033	0.0049	0.0019	0.0046	0.0434	0.0032	0.0032	0.0422	0.0418	0.0003	0.0016	3.826e-05	0.0074	5.616e-05	0.0102	0.0005	0.0030	0.0434	0.0037	0.0038	0.0027	0.0047	0.0728	0.0034	0.0033	0.0665	0.0640	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0728	0.031	0.49117	D	0.024	0.83351	D	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	6.96	0.00496	T	-3.18	0.64478	D	0.147	0.23758	-0.9246	0.44915	T	0.002	0.00556	T	9	0.0040231645	0.00078	T	.	.	.	0.023	0.04649	.	.	0.265010934533	0.26120	0.08363448061014937	0.08297	0.0181420124774	0.01770	.	.	.	0.073248	0.34652	T	-0.593347	0.00160	T	-0.617259	0.11401	T	0.0110382643311224	0.00160	T	0.0684932	0.00500	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.14568	B	.;.;.;.;.	.;.;.;.;.	0.450593	0.08207	4.944	0.82313487806081187	0.14128	0.00784	0.03216	N	AEFDBI	0.064107	0.12430	N	-1.14084117663319	0.05931	0.2717583	-1.27493329256418	0.04772	0.2258879	8.02504946794768E-4	0.07842	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-1.27	0.08863	-1.384000	0.02648	.	.	-0.209000	0.08382	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2408:0.4544:0.0:0.3048	2.320	0.03951	952	0.10565	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	2041.83	40	chr19	54587219	.	C	A	2041.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.708;DP=444;ExcessHet=0;FS=6.03;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-6.266;QD=7.71;ReadPosRankSum=-2.091;SOR=1.079	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,64:265:99:0|1:54587200_G_C:2052,0,8201:54587200	5	0	1	0
chr19	54587228	54587228	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.A1247G:p.Y416C,LILRA2:NM_001130917:exon8:c.A1334G:p.Y445C,LILRA2:NM_006866:exon8:c.A1283G:p.Y428C	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	0.0002	.	0.0083	0.0002	0.0008	0.0044	0	0.0010	0.0077	0.0535	0.000461	12	26028	rs200534443	0.0035	0.0049	0.0021	0.0051	0.0470	0.0035	0.0034	0.0458	0.0453	0.0003	0.0019	3.826e-05	0.0075	5.616e-05	0.0110	0.0005	0.0033	0.0470	0.0037	0.0038	0.0027	0.0047	0.0731	0.0034	0.0033	0.0668	0.0643	0.0003	0	0.0018	0	0.0081	0	0.0068	0.0017	0.0033	0.0731	0.004	0.65419	D	0.023	0.72224	D	0.998	0.73220	D	0.818	0.58969	P	0.000522	0.00629	U	911.360000	0.999937	0.42117	N	.	.	.	6.69	0.00504	T	-3.17	0.64363	D	0.359	0.44187	-1.0001	0.29888	T	0.009	0.03183	T	10	0.004475504	0.00092	T	.	.	.	0.225	0.52323	.	.	0.471211772063	0.46748	0.1776919267007496	0.17688	0.0586717605693	0.06507	.	.	.	0.071706	0.34273	T	-0.433147	0.01419	T	-0.371965	0.36659	T	0.0639146030096494	0.07769	T	0.812919	0.46506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.43102	B	.;.;.;.;.	.;.;.;.;.	2.547780	0.32967	19.20	0.98939825574754436	0.48921	0.07757	0.13756	N	AEFDBI	0.097065	0.19584	N	-0.00486300647389826	0.41634	2.493883	-0.283156857015773	0.28652	1.599245	0.00725477327334399	0.11422	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	2.74	0.31352	1.548000	0.35808	.	.	0.717000	0.85348	0.247000	0.24819	0.001000	0.17328	0.061000	0.16044	1.0:0.0:0.0:0.0	7.206	0.25083	952	0.10565	.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.011364	0.08333	2024.83	40	chr19	54587228	.	A	G	2024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.94;DP=456;ExcessHet=0;FS=7.056;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=-6.277;QD=7.5;ReadPosRankSum=-2.285;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,65:270:99:0|1:54587200_G_C:2035,0,8232:54587200	5	0	1	0
chr19	54594440	54594440	G	C	splicing	LILRA1	NM_001278318:exon3:c.35-1G>C;NM_006863:exon3:c.35-1G>C;NM_001278319:exon2:c.35-1G>C	.	.	.	1	1492	29	0	0	29	0.00962496	1.0000	0.748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417674707	4.949e-05	0.0019	3.552e-05	6.363e-05	0.0006	4.011e-05	3.686e-05	0.0004	0.0004	0	0	0	0.0006	0	0.0004	0	1.662e-05	0.0006	0.0006	0.0034	0.0004	0.0008	0.0078	0.0005	0.0005	0.0058	0.0051	0.0005	0	6.549e-05	0	0.0078	0	0	0.0001	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0855423	0.38811	T	-0.360652	0.37978	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.226708	0.87732	29.3	0.90370659406492138	0.19634	0.74118	0.36254	D	AEFBI	.	.	.	0.541375888717599	0.69559	5.374106	0.236263770894729	0.51872	3.366076	0.999904534571354	0.45458	0.228283	0.04149	0	0.429362	0.06391	1	0.063197	0.01477	0	0.057018	0.00518	0	0.222727	0.31436	1.76	1.76	0.23776	1.253000	0.32488	.	.	0.507000	0.23093	0.975000	0.34726	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	7.048	0.24237	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.83	244	chr19	54594440	.	G	C	104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.776;DP=1333;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.083;MQ=55.74;MQRankSum=-7.974;QD=0.54;ReadPosRankSum=1.73;SOR=0.569	GT:AD:DP:GQ:PL	0/1:168,25:193:99:115,0,6430	5	0	1	0
chr19	54595382	54595382	T	G	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon4:c.T641G:p.L214R,LILRA1:NM_001278318:exon5:c.T641G:p.L214R,LILRA1:NM_006863:exon5:c.T641G:p.L214R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00420279161482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442173969	6.857e-07	1.3e-05	0	1.379e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	2.627e-05	0.0001	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.083	0.37966	T	0.031	0.64786	D	0.901	0.73220	P	0.558	0.66722	P	0.284248	0.14888	N	0.594977	0.999954	0.35548	N	2.205	0.62170	M	5.74	0.00711	T	-2.67	0.59059	D	0.166	0.20528	-0.9826	0.34398	T	0.008	0.02884	T	10	0.21389809	0.37895	T	0.004203	0.10121	T	0.067	0.19503	0.679	0.81691	0.185906805712	0.18197	0.03388496608731282	0.03336	0.0983039149079	0.11101	0.284378826618	0.08110	T	0.003563	0.02970	T	-0.242197	0.15070	T	-0.585676	0.14043	T	0.840672850608826	0.49383	D	.	.	.	0.228602	0.45582	0.24163058	0.49565	0.228602	0.45582	0.24163058	0.49564	-5.025	0.40180	T	.	.	0.095	0.14842	B	.;.	.;.	2.527620	0.32673	19.11	0.98980548650742928	0.49720	0.02156	0.06336	N	AEFDBI	0.071052	0.14128	N	-0.402471755776382	0.25382	1.377445	-0.691630767030828	0.17169	0.9117404	0.999583597308691	0.40607	0.609539	0.35627	0	0.493711	0.08144	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.24	-0.3	0.12169	-0.544000	0.06166	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.637000	0.32341	0.0:0.6114:0.0:0.3886	4.859	0.12936	946	0.12043	Immunoglobulin subtype;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	40.83	149	chr19	54595382	.	T	G	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.054;DP=857;ExcessHet=0;FS=29.545;MLEAC=1;MLEAF=0.083;MQ=57.07;MQRankSum=-12.11;QD=0.18;ReadPosRankSum=2.77;SOR=1.329	GT:AD:DP:GQ:PL	0/1:208,24:232:51:51,0,8580	5	0	1	0
chr19	54631589	54631589	G	T	exonic	LILRB1	.	stopgain	LILRB1:NM_001081637:exon4:c.G160T:p.E54X,LILRB1:NM_001081638:exon4:c.G160T:p.E54X,LILRB1:NM_001081639:exon4:c.G160T:p.E54X,LILRB1:NM_001278398:exon4:c.G160T:p.E54X,LILRB1:NM_001278399:exon4:c.G160T:p.E54X,LILRB1:NM_006669:exon5:c.G160T:p.E54X	.	32	1469	21	0	0	21	0.00709699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181433469	0.0018	0.0042	0.0011	0.0025	0.0230	0.0017	0.0017	0.0222	0.0218	8.962e-05	0.0001	3.828e-05	0.0148	0	0.0009	5.577e-05	0.0016	0.0230	0.0012	0.0026	0.0008	0.0015	0.0190	0.0010	0.0010	0.0159	0.0147	0	0	0.0001	0	0.0190	0	0	4.411e-05	0.0005	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.752055	0.09692	N	0.872191	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.417	0.46928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0991399	0.36568	T	-0.380184	0.35699	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant;.;.	.;.;.;.;High;.;.	3.554869	0.49988	22.9	0.96286080431052368	0.29298	0.07882	0.13872	N	AEFDBCI	0.054551	0.09929	N	-0.397819700259343	0.25546	1.387562	-0.837046828815394	0.13599	0.70634	0.999979772756281	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.11	-1.63	0.07900	-0.452000	0.06861	.	.	-2.903000	0.00161	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3319:0.24:0.4282:0.0	2.913	0.05390	809	0.43032	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	765.83	249	chr19	54631589	.	G	T	765.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.199;DP=1507;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.083;MQ=58.17;MQRankSum=-6.436;QD=2.81;ReadPosRankSum=2.49;SOR=0.97	GT:AD:DP:GQ:PL	0/1:220,53:273:99:776,0,8684	5	0	1	0
chr19	54636844	54636844	T	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001278398:exon14:c.T1871A:p.V624E,LILRB1:NM_001081637:exon15:c.T1925A:p.V642E,LILRB1:NM_001081638:exon15:c.T1922A:p.V641E,LILRB1:NM_001081639:exon15:c.T1922A:p.V641E,LILRB1:NM_006669:exon16:c.T1919A:p.V640E	.	12	1457	53	0	0	53	0.0178632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0373403	0.0174	0.0731	0.0047	0.0042	0	0.0022	0.0099	0.0666	0.001229	190	154602	rs200208553	0.0029	0.0066	0.0022	0.0036	0.0311	0.0028	0.0028	0.0301	0.0297	0.0206	0.0027	3.835e-05	0.0010	5.617e-05	0.0062	0.0006	0.0042	0.0311	0.0005	0.0037	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0005	0	0.0001	0	0.0010	0	0	0.0002	0	0.0079	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.72	0.00354	T	2.75	0.00255	N	0.101	0.14196	-0.9267	0.44616	T	0.000	0.00039	T	9	0.0038897693	0.00074	T	.	.	.	0.047	0.12962	.	.	.	.	0.01539496993135938	0.01495	0.0875308799902	0.09869	0.356790602207	0.18917	T	0.002021	0.02217	T	-0.666268	0.00058	T	-0.700548	0.05796	T	0.00808306671237689	0.00096	T	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00112	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.101727	0.03631	0.720	0.43902963067046641	0.03338	0.00018	0.00208	N	AEFDBI	0.043169	0.06790	N	-2.03654416394117	0.00176	0.007556117	-1.94011838139244	0.00407	0.01799656	6.62834000225161E-4	0.07575	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.1	-0.185	0.12624	0.236000	0.17745	.	.	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5571:0.0:0.1723:0.2706	1.912	0.03089	814	0.42100	.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	0.030715	0.010101	0.036685	0.020468	0.000000	0.025862	0.027439	0.056818	0.08333	437.83	39	chr19	54636844	.	T	A	437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=352;ExcessHet=0;FS=1.614;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-10.64;QD=2.67;ReadPosRankSum=-1.229;SOR=0.886	GT:AD:DP:GQ:PL	0/1:133,31:164:99:448,0,3562	5	0	1	0
chr19	55045166	55045166	C	T	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.G904A:p.D302N,RDH13:NM_138412:exon8:c.G691A:p.D231N	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0141393244021	.	0.000998403	0.0004	0	0	0	0	0	0	0.0028	0.0003363	52	154602	rs368796928	0.0002	0.0002	8.578e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	0	0	0	0	0	0	8.993e-07	0.0002	0.0028	0.0001	0.0001	8.991e-05	0.0002	0.0043	9.14e-05	7.697e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.313	0.16958	T	0.204	0.28300	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.255	0.31814	L	-0.25	0.67011	T	-4.48	0.77965	D	0.329	0.46555	-0.4321	0.70998	T	0.370	0.72917	T	10	0.0060578883	0.00136	T	0.014139	0.34055	T	0.309	0.63055	0.378	0.39319	0.653944405081	0.65105	0.6610673686442303	0.66043	0.0872875167598	0.09842	0.651684105396	0.60224	T	0.155015	0.49655	T	-0.465751	0.00904	T	-0.445786	0.28162	T	0.304182022809982	0.25176	T	.	.	.	0.35753354	0.57648	0.25339222	0.50986	0.35753354	0.57648	0.25339222	0.50986	-5.713	0.45256	T	.	.	0.107	0.20117	B	.;.;.	.;.;.	3.586399	0.50588	23.0	0.99897881857467019	0.97048	0.93751	0.59087	D	AEFDBCI	0.461462	0.51121	N	0.476920930292797	0.65745	4.861255	0.469616354476287	0.65986	4.893648	0.999999973303373	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.61	4.61	0.56724	1.976000	0.40202	.	.	0.545000	0.25583	0.945000	0.32849	1.000000	0.68203	0.603000	0.31463	0.0:1.0:0.0:0.0	15.323	0.73848	982	0.03397	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	673.83	33	chr19	55045166	.	C	T	673.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.971;DP=227;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.538;SOR=0.504	GT:AD:DP:GQ:PL	0/1:20,27:47:99:684,0,549	5	0	1	0
chr19	57253748	57253748	C	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.C530A:p.T177N,ZNF805:NM_001023563:exon4:c.C929A:p.T310N	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00523649831315	.	0.000599042	0.0006	0	0.0002	0	0	1.499e-05	0	0.0041	0.0004916	76	154602	rs540712846	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	0	2.236e-05	0	0	0	0	1.799e-06	0.0003	0.0036	4.604e-05	4.595e-05	5.146e-05	4.037e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.166	0.26740	T	0.035	0.52389	D	0.014	0.16867	B	0.06	0.26717	B	0.005488	0.32753	N	0.142165	0.716316	0.29965	N	2.16	0.60381	M	1.76	0.25996	T	-3.65	0.69950	D	0.271	0.31140	-0.9925	0.31959	T	0.072	0.29130	T	10	0.010415167	0.00232	T	0.005236	0.13341	T	0.078	0.22779	0.442	0.49811	0.20808081866	0.20439	0.037296987754217775	0.03676	0.359677779946	0.37662	0.762696504593	0.76331	T	0.036093	0.23970	T	-0.506653	0.00524	T	-0.500693	0.22275	T	0.118895095497651	0.14322	T	0.625537	0.24174	T	0.32212207	0.54818	0.32034564	0.57990	0.32212207	0.54818	0.32034564	0.57989	-7.409	0.59320	T	.	.	0.440	0.66665	A	.;.	.;.	3.499144	0.48948	22.7	0.97577590869091224	0.34714	0.89764	0.50441	D	AEFGBCI	0.206373	0.33264	N	-0.123744531684752	0.36359	2.100661	-0.0679629999370886	0.36724	2.140814	0.0425430427698718	0.14531	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.78	2.72	0.31179	1.267000	0.32653	.	.	0.599000	0.40250	0.004000	0.16614	0.538000	0.25400	0.999000	0.91618	0.174:0.657:0.1689:0.0	8.425	0.31886	940	0.13648	.;Zinc finger C2H2-type	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2147.83	99	chr19	57253748	.	C	A	2147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.662;DP=410;ExcessHet=0;FS=5.96;MLEAC=1;MLEAF=0.083;MQ=57.55;MQRankSum=0.329;QD=14.22;ReadPosRankSum=0.994;SOR=0.423	GT:AD:DP:GQ:PL	0/1:74,77:151:99:2158,0,1970	5	0	1	0
chr19	57958652	57958652	C	G	exonic	C19orf18	.	nonsynonymous SNV	C19orf18:NM_152474:exon6:c.G598C:p.E200Q	.	578	940	3	1	0	5	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00229711704858	0.0009	0.000199681	0.0009	0.0001	0.0016	0	0	0.0014	0	0	0.0007309	113	154602	rs143356018	0.0008	0.0008	0.0007	0.0008	0.0015	0.0007	0.0007	0.0012	0.0011	0.0003	0.0015	0.0117	0	0	0.0014	0.0006	0.0015	7.104e-05	0.0008	0.0008	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0016	0.0136	0	0	0	0.0005	0.0019	0.0004	0.222	0.18823	T	0.325	0.18846	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	0.55	0.54728	T	-1.38	0.34198	N	0.078	0.05287	-1.0438	0.16177	T	0.067	0.27537	T	9	0.0063757002	0.00144	T	0.002297	0.04424	T	0.039	0.10176	.	.	0.301455362545	0.29754	0.00838653244608578	0.00802	0.0562568154488	0.06214	.	.	.	0.017044	0.13973	T	-0.614337	0.00119	T	-0.674243	0.07340	T	0.00491781356147187	0.00053	T	0.348165	0.07698	T	0.056120005	0.10997	0.04347778	0.05418	0.056120005	0.10997	0.04347778	0.05418	-4.58	0.31920	T	.	.	0.099	0.16538	B	.	.	0.421760	0.07922	4.631	0.44664777931840094	0.03450	0.02727	0.07393	N	AEFBI	0.046789	0.07808	N	-1.54863077211525	0.01543	0.06738442	-1.59421409326742	0.01690	0.07678332	3.26708803744836E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.98	-2.33	0.06340	0.175000	0.16577	.	.	-0.365000	0.05478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3703:0.5178:0.112	6.979	0.23872	976	0.04745	.	.	.	.	.	.	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	0.000507	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	321.83	20	chr19	57958652	.	C	G	321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.177;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.179;SOR=0.818	GT:AD:DP:GQ:PL	0/1:14,15:29:99:332,0,357	5	0	1	0
chr20	6042232	6042233	AT	-	exonic	LRRN4	.	frameshift deletion	LRRN4:NM_152611:exon5:c.1012_1013del:p.M338Vfs*73	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.795e-05	0	0	0.0006	0	3.135e-05	0	0.0002	7.12e-05	11	154602	rs766407477	7.06e-05	7.114e-05	6.273e-05	7.857e-05	0.0009	5.926e-05	5.534e-05	0.0004	0.0002	0	0	0	0.0002	0	0.0009	5.042e-05	8.298e-05	0.0003	4.596e-05	4.593e-05	2.569e-05	6.713e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.985e-05	0	0	0	0	0.0004	0	0	1.47e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	218.79	31	chr20	6042231	.	CAT	C	218.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.289;DP=111;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.303;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,6:12:99:229,0,234	5	0	1	0
chr20	8881782	8881782	A	G	exonic	PLCB1	.	nonsynonymous SNV	PLCB1:NM_015192:exon32:c.A3584G:p.H1195R	Epileptic encephalopathy, early infantile, 12, Autosomal recessive	1	1499	21	1	0	23	0.00761337	.	.	.	267446	PLCB1-related_disorder|not_specified|not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.00724350499262	7.7e-05	0.00159744	0.0011	0	0.0055	0	0	0.0005	0.0011	0.0022	0.0009379	145	154602	rs186429469	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0024	0.0022	2.987e-05	0.0028	0.0005	0	0	0.0024	0.0002	0.0007	0.0022	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	9.62e-05	0	0.0005	0.0006	0	0	0.0034	0.0002	0	0.0029	0.06	0.37326	T	0.263	0.22962	T	0.932	0.51990	P	0.888	0.63021	P	0.008489	0.30815	N	0.371129	0.988115	0.81001	D	0	0.06538	N	2.17	0.19020	T	-1.16	0.29727	N	0.288	0.32591	-1.0598	0.11805	T	0.053	0.22307	T	10	0.0051480234	0.00112	T	0.007244	0.19198	T	0.143	0.38195	.	.	0.433430666707	0.42962	0.353458938204218	0.35259	0.380248947977	0.39388	0.508864760399	0.40064	T	0.253467	0.62399	T	-0.500714	0.00566	T	-0.496321	0.22730	T	0.108825234293612	0.13301	T	0.613539	0.23382	T	0.079749025	0.18237	0.10729163	0.25826	0.08900321	0.20782	0.11693834	0.28229	-2.535	0.06025	T	.	.	0.072	0.06803	B	.;.	.;.	3.038744	0.40735	21.2	0.98215268806454992	0.39246	0.98364	0.82028	D	AEFI	0.790212	0.71917	D	0.312091209183244	0.56768	3.842177	0.394338499886534	0.61214	4.318542	0.717888030655403	0.22896	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.98	4.86	0.62624	6.736000	0.74614	6.959000	0.57050	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8687:0.0:0.0:0.1313	12.216	0.53719	877	0.30165	.;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	700.83	35	chr20	8881782	.	A	G	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.154;DP=285;ExcessHet=0;FS=8.34;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=0.395;SOR=1.159	GT:AD:DP:GQ:PL	0/1:70,34:104:99:711,0,1811	5	0	1	0
chr20	9459654	9459654	A	G	exonic	PLCB4	.	nonsynonymous SNV	PLCB4:NM_001377135:exon33:c.A3056G:p.Q1019R,PLCB4:NM_001377136:exon33:c.A3056G:p.Q1019R,PLCB4:NM_000933:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001172646:exon34:c.A3092G:p.Q1031R,PLCB4:NM_001377134:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001377143:exon34:c.A3092G:p.Q1031R,PLCB4:NM_182797:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001377142:exon35:c.A3092G:p.Q1031R	Auriculocondylar syndrome 2, Autosomal recessive, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0185004906008	7.7e-05	0.000399361	0.0004	0	8.775e-05	0	0	7.576e-05	0.0011	0.0024	0.0003363	52	154602	rs377707845	0.0002	0.0002	0.0001	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	5.989e-05	6.721e-05	0	0	0	0.0019	9.032e-05	0.0002	0.0021	9.192e-05	9.186e-05	8.994e-05	9.399e-05	0.0015	5.523e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.322	0.13610	T	0.34	0.18018	T	0.596	0.39217	P	0.098	0.38470	B	0.000034	0.55875	D	0.124032	0.99999	0.58761	D	1.67	0.42885	L	1.02	0.40749	T	-1.48	0.36189	N	0.624	0.65245	-1.0519	0.13872	T	0.098	0.36677	T	10	0.022329003	0.00555	T	0.018	0.40584	T	0.124	0.34239	.	.	0.608821576771	0.60568	0.2691799869522203	0.26830	0.262748586861	0.28834	0.802187681198	0.82296	T	0.286962	0.65976	T	-0.311092	0.07653	T	-0.225497	0.52207	T	0.0282982597639718	0.01732	T	0.893711	0.63166	D	0.12558568	0.29435	0.2203412	0.46806	0.12558568	0.29435	0.2203412	0.46805	-7.268	0.57165	T	0.29826195167310776	0.39545	0.118	0.31956	B	.;.;.;.;.	.;.;.;.;.	3.850551	0.55778	23.7	0.99153637235126058	0.53875	0.97516	0.75258	D	AEFDBI	0.817379	0.73888	D	0.102026477716955	0.46557	2.894257	0.262878622678562	0.53386	3.50779	0.999999957107158	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.61	5.61	0.85347	6.823000	0.75073	9.349000	0.80281	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.802	0.78236	760	0.50470	.;.;.;.;.	.	.	.	.	.	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	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	355.83	33	chr20	9459654	.	A	G	355.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.31;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=1.08;SOR=0.675	GT:AD:DP:GQ:PL	0/1:34,17:51:99:366,0,883	5	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	89.16	72	chr20	38497424	.	A	G	89.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.625;DP=364;ExcessHet=0.4139;FS=199.774;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.768;SOR=8.015	GT:AD:DP:GQ:PL	0/1:40,17:57:78:78,0,687	4	0	2	0
chr20	42104672	42104672	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon25:c.G3437A:p.C1146Y,PTPRT:NM_133170:exon26:c.G3494A:p.C1165Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0376718642772	.	.	8.283e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs767659521	1.181e-05	1.163e-05	6.928e-06	1.673e-05	0.0002	7.2e-06	5.88e-06	0.0001	9.497e-05	0	2.238e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.169	0.32461	T	0.998	0.77913	D	0.986	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	1.6	0.28604	T	-8.62	0.97496	D	0.949	0.95725	-0.7020	0.60343	T	0.202	0.55877	T	10	0.81026804	0.80318	D	0.037672	0.57762	D	0.569	0.82460	0.497	0.58678	0.731377292797	0.72898	0.7340022374625954	0.73345	2.073624099	0.94498	0.91890835762	0.98239	D	0.62672	0.88377	D	0.0601385	0.59630	T	0.122908	0.78425	D	0.780059695243835	0.45053	D	0.945305	0.79188	D	0.88993526	0.90501	0.9035253	0.95226	0.88993526	0.90503	0.9035253	0.95227	-12.279	0.86791	D	0.6387453730410562	0.70914	0.991	0.94026	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.294824	0.88897	29.8	0.9980463097714356	0.88906	0.99048	0.90464	D	AEFGBI	0.944753	0.95222	D	0.817778292228027	0.87206	9.138094	0.782534669400496	0.88554	9.625682	0.999999962632102	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	7.902000	0.86082	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.482	0.90762	814	0.42100	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1361.83	36	chr20	42104672	.	C	T	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.837;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.022;SOR=0.728	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1372,0,1339	5	0	1	0
chr20	63316685	63316685	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon21:c.G2657A:p.R886Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0169120823863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924995901	2.131e-06	9.577e-06	4.21e-06	0	0.0002	5.7e-07	1.6e-07	.	.	3.103e-05	0	0	0	0	0.0002	9.215e-07	0	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0001	1.716e-05	1.13e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.093	0.31532	T	0.027	0.55341	D	0.992	0.70673	D	0.644	0.60758	P	0.000298	0.46274	D	0.181464	0.700453	0.33416	D	2.215	0.62545	M	2.58	0.13434	T	-0.87	0.23590	N	0.312	0.41459	-0.9802	0.34955	T	0.067	0.27468	T	10	0.35519513	0.52286	T	0.016912	0.38384	T	0.083	0.24192	.	.	0.502815669512	0.49917	0.15250518665356508	0.15172	0.237299983296	0.26271	0.609544754028	0.54251	T	0.012793	0.11182	T	-0.155313	0.27485	T	-0.460873	0.26504	T	0.862024545669556	0.51236	D	0.842916	0.51943	T	0.05388588	0.10261	0.09203657	0.21669	0.05388588	0.10260	0.09203657	0.21669	-4.925	0.36015	T	.	.	0.105	0.20313	B	.;.	.;.	3.903359	0.56875	23.8	0.99934191611075751	0.99535	0.87073	0.46505	D	AEFDBCI	0.445356	0.50187	N	0.292828285981455	0.55786	3.742558	0.240150019124147	0.52091	3.386365	0.999883077966151	0.44867	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	3.918000	0.56144	3.138000	0.36470	-0.244000	0.07312	0.991000	0.37257	0.415000	0.24778	0.002000	0.04165	0.0:0.0:1.0:0.0	12.201	0.53633	.	.	Laminin G domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	370.83	33	chr20	63316685	.	G	A	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=207;ExcessHet=0;FS=1.631;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.255;SOR=0.333	GT:AD:DP:GQ:PL	0/1:12,16:28:99:381,0,347	5	0	1	0
chr21	5121005	5121005	G	A	exonic	GATD3A	.	nonsynonymous SNV	GATD3A:NM_001320384:exon6:c.C628T:p.R210C	.	502	1008	10	2	0	14	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280594840	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0003	0.0055	0.0052	0	0	0	0.0002	0	0.0006	3.713e-05	0.0005	0.0064	0.0002	0.0002	0.0001	0.0002	0.0080	0.0001	8.743e-05	0.0046	0.0036	0	0	0.0001	0	0	0	0	2.148e-05	0	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2346.04	42	chr21	5121005	.	G	A	2346.04	.	AC=2;AF=0.167;AN=12;DP=257;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=35.89;QD=30.87;SOR=2.242	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2366,228,0	5	1	0	0
chr21	28944479	28944479	T	C	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon21:c.A3844G:p.I1282V,LTN1:NM_015565:exon22:c.A3886G:p.I1296V	.	.	.	.	.	.	.	.	.	.	.	2240981	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00119698827222	7.7e-05	.	8.258e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs368300991	1.3e-05	1.3e-05	8.168e-06	1.788e-05	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	1.656e-05	0	1.313e-05	1.312e-05	0	2.686e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0	0.852	0.02906	T	0.917	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.188294	0.03232	N	1.575890	1	0.08975	N	-0.06	0.04898	N	2.28	0.17431	T	-0.06	0.07882	N	0.057	0.03726	-0.9939	0.31591	T	0.021	0.08639	T	10	0.03488323	0.01713	T	0.001197	0.01558	T	0.064	0.18567	.	.	0.128874641272	0.12493	0.06794293768058818	0.06732	0.200544423439	0.22454	0.240759044886	0.02859	T	0.063071	0.32081	T	-0.468837	0.00864	T	-0.847583	0.00991	T	0.0121061794291428	0.00193	T	0.381062	0.09207	T	0.011951523	0.00025	0.02227235	0.00256	0.011951523	0.00025	0.02227235	0.00256	-3.22	0.12726	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	-1.144741	0.00589	0.015	0.54248627835461727	0.05100	0.05554	0.11450	N	AEFDGBIJ	0.058248	0.10915	N	-1.98780280091481	0.00225	0.009629572	-2.00632443167464	0.00297	0.01311823	0.999999980282052	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.12	-6.2	0.01894	-0.405000	0.07258	-2.437000	0.03755	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0:0.509:0.0:0.491	15.306	0.73695	973	0.05605	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	837.83	33	chr21	28944479	.	T	C	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=246;ExcessHet=0;FS=3.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.115;SOR=0.79	GT:AD:DP:GQ:PL	0/1:33,38:71:99:848,0,821	5	0	1	0
chr21	36336940	36336940	A	G	exonic	MORC3	.	nonsynonymous SNV	MORC3:NM_015358:exon3:c.A179G:p.H60R	.	.	.	.	.	.	.	.	.	.	.	3361955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.002065692995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915327134	6.844e-06	6.841e-06	4.086e-06	9.63e-06	0.0003	3.46e-06	2.52e-06	6.096e-05	2.522e-05	0	4.479e-05	0	0	0	0.0003	3.599e-06	1.657e-05	1.161e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.501	0.07720	T	0.453	0.12848	T	0.0	0.02946	B	0.002	0.06944	B	0.900411	0.08624	N	0.962265	1	0.08975	N	0.69	0.16971	N	1.69	0.27032	T	0.03	0.06612	N	0.073	0.04668	-0.9530	0.40450	T	0.018	0.07470	T	10	0.064940065	0.08686	T	0.002066	0.03775	T	0.075	0.21907	0.62	0.75461	0.384263066157	0.38043	0.7260771035262028	0.72551	1.24745670607	0.81720	0.313847333193	0.12489	T	0.240276	0.60857	T	-0.337002	0.05598	T	-0.721857	0.04706	T	0.022429001734932	0.00958	T	0.525947	0.17303	T	0.058958493	0.11924	0.044742033	0.05865	0.058958493	0.11923	0.044742033	0.05865	-3.956	0.23143	T	.	.	0.053	0.00274	B	.	.	1.139695	0.15271	11.72	0.7406537554022361	0.10557	0.17781	0.19985	N	AEFGBCI	0.069753	0.13821	N	-1.17468906142617	0.05384	0.2453486	-1.10407313954707	0.07623	0.3714771	0.999972856815907	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	-3.88	0.03927	0.696000	0.25220	0.726000	0.21050	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.5381:0.0:0.3613:0.1006	7.560	0.27012	960	0.08626	Histidine kinase/HSP90-like ATPase	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1480.83	33	chr21	36336940	.	A	G	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.068;DP=297;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.14;SOR=0.557	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1491,0,1379	5	0	1	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	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	0.002114	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1424.83	40	chr21	44540050	.	A	G	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.21;DP=306;ExcessHet=0;FS=2.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=2.22;SOR=0.979	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1435,0,1716	5	0	1	0
chr21	45176618	45176618	C	T	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon3:c.C1064T:p.S355F,ADARB1:NM_001112:exon4:c.C917T:p.S306F,ADARB1:NM_001160230:exon4:c.C917T:p.S306F,ADARB1:NM_001346688:exon4:c.C917T:p.S306F,ADARB1:NM_015833:exon4:c.C917T:p.S306F,ADARB1:NM_015834:exon4:c.C917T:p.S306F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0221000485227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27663	T	0.023	0.57104	D	0.988	0.62325	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	1.38	0.34050	T	-2.19	0.49352	N	0.678	0.70263	-0.8870	0.49189	T	0.158	0.49161	T	10	0.48538738	0.60677	T	0.022	0.44952	T	0.083	0.24192	0.245	0.17984	0.196089822672	0.19227	0.5628923419359976	0.56216	.	.	0.614057064056	0.54889	T	0.339004	0.70820	T	-0.0631402	0.42416	T	-0.328473	0.41638	T	0.951701045036316	0.63622	D	0.971103	0.89589	D	0.24025117	0.46926	0.12540475	0.30217	0.24025117	0.46926	0.12540475	0.30216	-5.668	0.43836	T	0.4161693179217331	0.50567	0.514	0.69628	A	.;.;.;.;.	.;.;.;.;.	3.743776	0.53625	23.4	0.99713018534102682	0.81493	0.95372	0.64463	D	AEFDBI	0.486447	0.52561	N	0.283688044378132	0.55321	3.69626	0.253400715581951	0.52844	3.456472	0.999998580691026	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.25	0.49658	5.699000	0.67967	5.764000	0.49701	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.9129:0.0:0.0871	11.740	0.51055	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	855.83	33	chr21	45176618	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.676;DP=260;ExcessHet=0;FS=3.425;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.188;SOR=1.223	GT:AD:DP:GQ:PL	0/1:45,34:79:99:866,0,1203	5	0	1	0
chr21	45930825	45930825	A	T	exonic	PCBP3	.	nonsynonymous SNV	PCBP3:NM_001130141:exon11:c.A758T:p.N253I,PCBP3:NM_001382278:exon12:c.A833T:p.N278I,PCBP3:NM_001382279:exon12:c.A905T:p.N302I,PCBP3:NM_001382281:exon12:c.A836T:p.N279I,PCBP3:NM_020528:exon12:c.A836T:p.N279I,PCBP3:NM_001382277:exon13:c.A836T:p.N279I,PCBP3:NM_001382282:exon13:c.A836T:p.N279I,PCBP3:NM_001382287:exon13:c.A836T:p.N279I,PCBP3:NM_001348238:exon14:c.A833T:p.N278I,PCBP3:NM_001348240:exon14:c.A905T:p.N302I,PCBP3:NM_001382283:exon14:c.A836T:p.N279I,PCBP3:NM_001382285:exon14:c.A836T:p.N279I,PCBP3:NM_001382286:exon14:c.A836T:p.N279I,PCBP3:NM_001382288:exon14:c.A836T:p.N279I,PCBP3:NM_001348239:exon15:c.A902T:p.N301I,PCBP3:NM_001348241:exon15:c.A869T:p.N290I,PCBP3:NM_001382284:exon15:c.A836T:p.N279I,PCBP3:NM_001384156:exon15:c.A836T:p.N279I,PCBP3:NM_001348242:exon16:c.A740T:p.N247I,PCBP3:NM_001382276:exon16:c.A740T:p.N247I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0130807367497	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771054888	1.932e-05	1.915e-05	2.613e-05	1.247e-05	0.0001	1.34e-05	1.154e-05	6.259e-05	4.767e-05	0	0	0	0	0	0	1.544e-05	1.667e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.121	0.36509	T	0.155	0.34009	T	0.001	0.64070	B	0.001	0.79672	B	0.518773	0.05190	U	1.381620	0.545506	0.81001	D	0	0.06538	N	1.43	0.47815	T	-1.31	0.33401	N	0.808	0.82458	-0.8524	0.51802	T	0.168	0.50729	T	10	0.17196298	0.31944	T	0.013081	0.32199	T	0.154	0.40340	0.311	0.28451	0.627064281203	0.62402	0.6102373099022304	0.60955	0.559911966558	0.52530	0.845764458179	0.88974	D	0.094367	0.39401	T	-0.212333	0.19051	T	-0.306109	0.44076	T	0.179789379239082	0.19222	T	0.89791	0.66926	D	0.20100681	0.42095	0.15041748	0.35474	0.20100681	0.42095	0.15041748	0.35473	-4.941	0.37164	T	.	.	0.132	0.31100	B	.;.;.;.;.;.	.;.;.;.;.;.	3.908204	0.56977	23.8	0.98120571624157638	0.38432	0.86832	0.46200	D	AEBI	0.648405	0.62323	D	-0.100526504140842	0.37368	2.173163	0.0677398093640186	0.42938	2.60604	0.983593467419478	0.30584	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	4.598000	0.60777	6.747000	0.56500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.714	0.50909	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	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	0.001036	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	712.83	34	chr21	45930825	.	A	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.219;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.493;SOR=0.593	GT:AD:DP:GQ:PL	0/1:32,30:62:99:723,0,765	5	0	1	0
chr22	18085172	18085172	C	T	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon4:c.C728T:p.A243V,PEX26:NM_017929:exon5:c.C728T:p.A243V	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	0	1485	36	1	0	38	0.012633	.	.	.	101776	not_provided|not_specified|Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0474069941573	0.0013	0.000599042	0.0025	0.0005	0.0049	0	0	0.0027	0.0055	0.0031	0.002238	346	154602	rs149153003	0.0020	0.0020	0.0019	0.0021	0.0078	0.0019	0.0019	0.0060	0.0054	0.0003	0.0028	0.0143	5.038e-05	1.872e-05	0.0078	0.0017	0.0036	0.0037	0.0015	0.0015	0.0015	0.0016	0.0027	0.0014	0.0013	0.0016	0.0015	0.0002	0	0.0010	0.0161	0	0	0.0170	0.0019	0.0024	0.0027	1.0	0.00964	T	0.892	0.03117	T	0.037	0.20876	B	0.008	0.13708	B	0.807127	0.06805	N	1.130330	1	0.08975	N	1.445	0.36358	L	-3.31	0.93835	D	0.39	0.03521	N	0.169	0.17966	-0.4963	0.68783	T	0.459	0.78970	T	10	0.0070671737	0.00161	T	0.047407	0.62906	D	0.197	0.47942	.	.	0.713262185059	0.71075	0.18857996755709533	0.18775	0.169790244603	0.19148	0.245509326458	0.03309	T	0.160927	0.50497	T	-0.343929	0.05120	T	-0.26828	0.47994	T	0.0011585195957036	0.00011	T	0.680032	0.28847	T	0.013598841	0.00064	0.029807605	0.01360	0.01283413	0.00043	0.033644404	0.02294	-3.795	0.20730	T	0.18329792778732906	0.23723	0.085	0.10256	B	.;.	.;.	1.406946	0.18215	13.61	0.90691769302167446	0.19942	0.02475	0.06940	N	AEFDBI	0.039902	0.05861	N	-1.08820130963749	0.06860	0.3169854	-1.0370179735868	0.08979	0.4442657	0.99972819727319	0.42220	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	-1.98	0.07070	0.506000	0.22367	-0.028000	0.12833	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.425000	0.27339	0.0:0.3426:0.1547:0.5026	5.148	0.14322	835	0.38313	.;.	.	.	.	.	.	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	0	0	0.006546	0.000000	0.010870	0.002924	0.000000	0.017241	0.003049	0.007576	0.08333	856.83	34	chr22	18085172	.	C	T	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.111;DP=250;ExcessHet=0;FS=3.6;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.92;SOR=1.25	GT:AD:DP:GQ:PL	0/1:29,33:62:99:867,0,777	5	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.5	9200.51	133	chr22	18925165	.	A	G	9200.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.433;DP=571;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.332;SOR=0.723	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2534,245,0	2	2	2	0
chr22	19178634	19178634	C	G	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_005984:exon1:c.G40C:p.A14P	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.91514969292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.087	0.40747	T	0.53	0.37698	P	0.228	0.38116	B	0.008805	0.30655	N	0.295586	0.999964	0.52935	D	1.645	0.42016	L	-1.38	0.80301	T	-2.13	0.48354	N	0.189	0.20660	-0.6497	0.62727	T	0.313	0.68300	T	10	0.33928877	0.51018	T	0.91515	0.99371	D	0.317	0.63904	0.384	0.40298	0.565793268254	0.56243	0.7582496552490378	0.75772	2.28727837	0.96362	0.871913552284	0.92841	D	0.217598	0.58008	T	0.00177346	0.51899	T	-0.235229	0.51263	T	0.571265697479248	0.35283	D	0.725927	0.34027	T	0.30966347	0.53757	0.45400292	0.68249	0.30966347	0.53757	0.45400292	0.68250	-4.574	0.31843	T	.	.	0.151	0.33481	B	.	.	3.168829	0.42966	21.6	0.95784513889219658	0.27812	0.96224	0.68106	D	AEFGBHCIJ	0.587028	0.58484	D	-0.559246758872535	0.20195	1.06282	-0.608992775389284	0.19262	1.032668	0.999999999893971	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.36	1.22	0.20300	-0.153000	0.10130	1.409000	0.26264	-0.309000	0.06099	0.000000	0.06391	0.996000	0.32793	0.027000	0.12703	0.0:0.7838:0.0:0.2162	7.152	0.24793	755	0.51144	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	143.99	8	chr22	19178634	.	C	G	143.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.439;SOR=0.586	GT:AD:DP:GQ:PL	0/1:10,7:17:99:154,0,204	5	0	1	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	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	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.08333	1096.83	35	chr22	19180775	.	C	T	1096.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=262;ExcessHet=0;FS=1.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.284;SOR=0.896	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1107,0,1092	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:10,4:14:99:114,0,245	0	0	5	1
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	170.92	34	chr22	21221866	.	C	T	170.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=298;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.95;MQRankSum=2.46;QD=1.1;ReadPosRankSum=1.09;SOR=0.705	GT:AD:DP:GQ:PL	0/1:44,10:54:99:180,0,1088	4	0	2	0
chr22	22514483	22514483	A	G	exonic	ZNF280A	.	nonsynonymous SNV	ZNF280A:NM_080740:exon2:c.T1148C:p.M383T	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.00594944685631	0.0009	0.00159744	0.0021	0.0003	0.0023	0	0.0002	0.0011	0.0044	0.0091	0.0018628	288	154602	rs143870620	0.0014	0.0014	0.0010	0.0018	0.0172	0.0014	0.0013	0.0144	0.0134	0.0004	0.0015	0.0033	0	5.616e-05	0.0172	0.0007	0.0025	0.0105	0.0010	0.0010	0.0009	0.0010	0.0062	0.0008	0.0008	0.0045	0.0039	0.0002	0	0.0022	0.0035	0	9.411e-05	0.0140	0.0007	0.0038	0.0062	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.642586	0.30603	N	.	.	.	1.57	0.29342	T	-5.76	0.87835	D	0.767	0.76481	-0.8955	0.48437	T	0.091	0.34874	T	9	0.013823152	0.00292	T	0.005949	0.15520	T	0.233	0.53499	.	.	0.575712373409	0.57239	0.10935647322485376	0.10864	0.247428932849	0.27293	0.693308591843	0.66181	T	.	.	.	-0.365541	0.03826	T	-0.288456	0.45933	T	0.0641167087728233	0.07799	T	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.83210	P	.	.	4.113507	0.61430	24.3	0.99054096764826915	0.51321	0.94961	0.62935	D	AEFDGBHI	0.548931	0.56202	D	0.389197484443325	0.60836	4.277072	0.29689041017889	0.55357	3.698876	0.999999866200883	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	3.9	1.75	0.23707	4.041000	0.57051	2.625000	0.33658	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7285:0.0:0.0995:0.172	4.528	0.11397	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0	0	0.018127	0.000000	0.014946	0.032164	0.050000	0.025862	0.015244	0.026515	0.25	3745.0	98	chr22	22514483	.	A	G	3745.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.403;DP=451;ExcessHet=0;FS=0.677;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.84;ReadPosRankSum=-0.766;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2657,246,0	4	1	1	0
chr22	24084703	24084703	T	C	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon20:c.T2885C:p.I962T,CABIN1:NM_001199281:exon21:c.T3035C:p.I1012T,CABIN1:NM_012295:exon21:c.T3035C:p.I1012T	.	.	.	.	.	.	.	.	.	.	.	2682428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.0217464338924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904272828	4.789e-05	4.788e-05	4.901e-05	4.676e-05	6.026e-05	3.86e-05	3.54e-05	4.813e-05	4.424e-05	2.987e-05	0	0	0	0	0	6.026e-05	1.656e-05	1.159e-05	1.315e-05	1.314e-05	2.571e-05	0	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	0.14	0.25664	T	0.108	0.37730	T	0.011	0.15914	B	0.003	0.08700	B	0.000548	0.43413	D	0.241069	0.999998	0.08975	N	1.79	0.46772	L	-0.04	0.67367	T	-2.67	0.57110	D	0.43	0.48227	-0.8736	0.50257	T	0.172	0.51325	T	10	0.21125895	0.37548	T	0.021746	0.44560	T	0.271	0.58633	.	.	0.793068768563	0.79114	0.44379231098697475	0.44297	1.08246133616	0.77175	0.62800014019	0.56861	T	0.592681	0.86829	D	-0.044171	0.45327	T	-0.204371	0.54233	T	0.672163844108582	0.39434	D	0.911709	0.68653	D	0.08171743	0.18790	0.11996299	0.28953	0.08171743	0.18790	0.11996299	0.28952	-6.981	0.53895	T	.	.	0.305	0.57280	B	.;.;.;.	.;.;.;.	2.914988	0.38680	20.8	0.97861721603587148	0.36472	0.91156	0.52970	D	AEFGBI	0.516647	0.54309	D	-0.120525537747355	0.36499	2.110605	0.0382557241139201	0.41508	2.494869	0.99801018179478	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.192000	0.71992	7.738000	0.67953	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.086:0.0:0.914	9.617	0.38863	917	0.20147	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2121.83	33	chr22	24084703	.	T	C	2121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.042;DP=296;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-0.083;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,75:121:99:2132,0,1195	5	0	1	0
chr22	24623906	24623906	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon11:c.A1010G:p.D337G,GGT1:NM_013430:exon11:c.A1010G:p.D337G,GGT1:NM_013421:exon12:c.A1010G:p.D337G	.	472	1015	35	0	0	35	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00642018502782	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201278692	0.0001	0.0014	9.32e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0	0.0002	0.0011	0	7.524e-05	0.0005	5.962e-05	0.0001	0.0011	1.977e-05	0.0002	2.577e-05	1.349e-05	4.424e-05	5.26e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.042	0.45039	D	0.109	0.37449	T	0.003	0.11197	B	0.008	0.13708	B	0.026060	0.25985	U	0.393704	0.984754	0.24772	N	0.86	0.21358	L	3.06	0.08634	T	-2.81	0.59389	D	0.31	0.37923	-1.0345	0.19014	T	0.023	0.09787	T	10	0.16224849	0.30413	T	0.00642	0.16899	T	0.071	0.20720	.	.	0.221890330934	0.21812	0.7310437235026361	0.75440	.	.	0.432777583599	0.29587	T	0.174211	0.52335	T	-0.213582	0.18877	T	-0.544572	0.17850	T	0.226054698228836	0.21762	T	0.886611	0.61335	D	0.32057133	0.54688	0.22708768	0.47707	0.32057133	0.54688	0.22708768	0.47706	-7.992	0.61016	D	.	.	0.162	0.37558	B	.;.;.;.	.;.;.;.	2.344238	0.30048	18.32	0.96975519854809777	0.31839	0.76743	0.37663	D	AEFI	0.563045	0.57039	D	-0.572254272150079	0.19791	1.03857	-0.607656926219025	0.19295	1.034643	4.35844693757602E-4	0.06970	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	3.53	2.49	0.29274	3.351000	0.51947	4.330000	0.43024	0.725000	0.85415	0.220000	0.24536	0.114000	0.22828	0.481000	0.28588	0.8995:0.0:0.1005:0.0	8.022	0.29573	684	0.59539	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	163.06	28	chr22	24623906	.	A	G	163.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.334;DP=183;ExcessHet=0.4139;FS=4.767;MLEAC=2;MLEAF=0.167;MQ=46.22;MQRankSum=-2.983;QD=2.67;ReadPosRankSum=-1.292;SOR=1.525	GT:AD:DP:GQ:PL	0/1:20,5:25:71:71,0,528	4	0	2	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	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	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.08333	756.83	51	chr22	31140088	.	A	T	756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.081;DP=256;ExcessHet=0;FS=4.386;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.023;SOR=0.524	GT:AD:DP:GQ:PL	0/1:16,30:46:99:767,0,412	5	0	1	0
chr22	32043316	32043316	C	T	exonic	SLC5A1	.	nonsynonymous SNV	SLC5A1:NM_000343:exon1:c.C35T:p.A12V	Glucose/galactose malabsorption, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	493545	not_provided|not_specified|Congenital_glucose-galactose_malabsorption	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.0850892988681	0.0007	0.000399361	0.0010	9.812e-05	0.0003	0	0	0.0014	0.0023	0.0009	0.0008667	134	154602	rs150288967	0.0006	0.0006	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0008	8.961e-05	0.0004	0.0145	2.519e-05	0	0.0016	0.0003	0.0014	0.0010	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0008	0.0006	4.81e-05	0	0.0012	0.0199	0	9.409e-05	0.0068	0.0006	0.0024	0.0008	0.061	0.37118	T	0.406	0.14725	T	0.001	0.07471	B	0.001	0.04355	B	0.098823	0.02528	N	1.733900	1	0.08975	N	1.905	0.50856	L	-2.06	0.85875	D	-1.46	0.35792	N	0.061	0.03283	-0.7007	0.60404	T	0.465	0.79317	T	10	0.004654914	0.00097	T	0.085089	0.74461	D	0.505	0.78662	.	.	0.747006263103	0.74472	0.266694549339179	0.26582	0.463755388892	0.45870	0.317358285189	0.13020	T	0.090024	0.38498	T	-0.18738	0.22644	T	-0.0982831	0.63530	T	0.0174199961141006	0.00479	T	0.330167	0.06908	T	0.0670848	0.14496	0.11304056	0.27278	0.058023643	0.11621	0.14435951	0.34274	-3.989	0.23639	T	.	.	0.085	0.10352	B	.	.	1.013699	0.13930	10.49	0.99136788943025422	0.53410	0.08302	0.14249	N	AEFDBHCI	0.094886	0.19179	N	-0.763499697619612	0.14269	0.7094192	-0.767030968859746	0.15305	0.8042273	0.953056415919183	0.28052	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	3.73	0.41982	1.107000	0.30724	-0.250000	0.10515	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.897:0.0:0.103	8.748	0.33760	195	0.92448	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	791.83	35	chr22	32043316	.	C	T	791.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.137;SOR=0.726	GT:AD:DP:GQ:PL	0/1:41,33:74:99:802,0,916	5	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	966.83	60	chr22	36227655	.	C	A	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.925;DP=474;ExcessHet=0;FS=243.156;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.227;SOR=8.409	GT:AD:DP:GQ:PL	0/1:186,66:252:99:977,0,4863	5	0	1	0
chr22	36282756	36282756	C	T	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon41:c.G5795A:p.R1932H	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3310687	Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_17|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050|MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.127744899216	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291058743	3.423e-06	6.84e-06	5.45e-06	1.376e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.19569	T	0.311	0.19660	T	0.005	0.12996	B	0.003	0.08700	B	0.000591	0.43095	D	0.082362	0.999978	0.53665	D	0.975	0.24501	L	-2.04	0.85703	D	-1.66	0.39692	N	0.399	0.43995	-0.3182	0.74472	T	0.450	0.78473	T	10	0.2686801	0.44389	T	0.127745	0.80959	D	0.277	0.59375	0.303	0.27164	0.761549345286	0.75938	0.5606075345240522	0.55987	0.629646260118	0.56991	0.76436829567	0.76580	T	0.352261	0.71972	T	0.0732284	0.61238	D	-0.132589	0.60753	T	0.746652901172638	0.43099	D	0.949755	0.80719	D	0.2827241	0.51308	0.19961357	0.43851	0.2827241	0.51308	0.19961357	0.43850	-5.584	0.42646	T	.	.	0.211	0.43909	B	.	.	4.122584	0.61634	24.4	0.99863821814414122	0.94184	0.94296	0.60715	D	AEFBCI	0.794838	0.72243	D	0.0144426405003814	0.42513	2.562836	0.193188392274141	0.49473	3.150041	0.999999994253702	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.85	4.85	0.62375	6.414000	0.73231	4.637000	0.44139	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.356	0.90299	492	0.76569	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	800.83	35	chr22	36282756	.	C	T	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=245;ExcessHet=0;FS=1.118;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.271;SOR=0.977	GT:AD:DP:GQ:PL	0/1:27,29:56:99:811,0,662	5	0	1	0
chr22	38843393	38843393	C	T	exonic	NPTXR	.	nonsynonymous SNV	NPTXR:NM_014293:exon1:c.G466A:p.G156S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00299521	0.0030	0.0475	0.0035	0	0	0	0	0	0.0004463	69	154602	rs371614157	0.0003	0.0003	0.0003	0.0003	0.0122	0.0003	0.0003	0.0110	0.0106	0.0122	0.0007	0	3.504e-05	0	0	1.657e-05	0.0008	4.848e-05	0.0033	0.0033	0.0034	0.0033	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0012	0	0	0	0	1.475e-05	0.0024	0.0002	0.241	0.17643	T	0.262	0.22895	T	0.886	0.48745	P	0.147	0.34014	B	.	.	.	.	.	.	.	0.875	0.21512	L	2.63	0.12884	T	-1.15	0.29525	N	0.072	0.04547	-0.9954	0.31191	T	0.011	0.04181	T	8	0.0052942336	0.00116	T	.	.	.	0.035	0.08770	.	.	0.193865811164	0.18958	0.44651547796795604	0.44569	.	.	0.940173625946	0.99462	D	0.053534	0.29470	T	-0.573994	0.00210	T	-0.586891	0.13937	T	0.0259674924853044	0.01401	T	0.80002	0.44558	T	0.083890125	0.19393	0.20547804	0.44719	0.083890125	0.19392	0.20547804	0.44718	-5.841	0.44930	T	.	.	0.096	0.15430	B	.;.	.;.	2.997827	0.40049	21.1	0.99067671405386137	0.51645	0.83659	0.42762	D	ALL	0.269685	0.38591	N	-0.285315080954903	0.29714	1.650315	-0.289167653120627	0.28455	1.586676	0.999999999947713	0.74766	0.652421	0.48094	0	0.600433	0.49495	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	2.27	1.14	0.19817	2.412000	0.44263	2.550000	0.33259	0.462000	0.21616	0.973000	0.34540	0.991000	0.31484	0.937000	0.47636	0.0:0.6228:0.2312:0.1459	4.674	0.12086	764	0.49969	.;.	.	.	.	.	.	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	0	0	0.001063	0.005435	0.000000	0.000000	0.000000	0.000000	0.003205	0.000000	0.08333	510.83	34	chr22	38843393	.	C	T	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.034;SOR=0.784	GT:AD:DP:GQ:PL	0/1:24,21:45:99:521,0,505	5	0	1	0
chr22	39679401	39679401	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon31:c.G5245A:p.D1749N,CACNA1I:NM_021096:exon32:c.G5350A:p.D1784N	.	.	.	.	.	.	.	.	.	.	.	2819541	not_provided|Neurodevelopmental_disorder_with_speech_impairment_and_with_or_without_seizures	MedGen:C3661900|MONDO:MONDO:0859313,MedGen:C5774252,OMIM:620114	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.900872322768	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163577432	1.379e-05	1.437e-05	1.805e-05	9.374e-06	7.673e-05	8.62e-06	7.11e-06	1.27e-05	5.33e-06	7.673e-05	0	0	0	0	0	1.24e-05	3.703e-05	1.524e-05	1.974e-05	1.97e-05	1.286e-05	2.695e-05	4.416e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.416e-05	0	0	0.365	0.14793	T	0.379	0.19539	T	0.013	0.20732	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	-4.03	0.96594	D	-0.95	0.25332	N	0.195	0.27316	0.084	0.83873	D	0.798	0.93156	D	9	0.24048409	0.41209	T	0.900872	0.99254	D	0.267	0.58126	0.388	0.40951	0.619001907274	0.61591	0.36583706007363154	0.36497	1.86641303937	0.92460	0.684245646	0.64879	T	0.018964	0.15193	T	-0.104648	0.35655	T	-0.273141	0.47501	T	0.0731932230949745	0.09092	T	0.760924	0.38541	T	0.11720377	0.27633	0.10308093	0.24724	0.11720377	0.27633	0.10308093	0.24723	-5.865	0.46305	T	.	.	0.078	0.11989	B	.;.;.;.	.;.;.;.	3.075471	0.41357	21.3	0.98463447388724012	0.41768	0.69254	0.34115	D	AEFDBI	0.125838	0.24251	N	-0.473082903705005	0.22966	1.229965	-0.408067617758847	0.24760	1.357713	0.992526628131019	0.32871	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	1.072000	0.30290	7.124000	0.57604	0.670000	0.69193	0.188000	0.24163	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.822	0.88564	829	0.39537	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	241.85	25	chr22	39679401	.	G	A	241.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=85;ExcessHet=0;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=0;SOR=1.911	GT:AD:DP:GQ:PL	0/1:6,8:14:99:252,0,228	5	0	1	0
chr22	41763250	41763250	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon19:c.C2197T:p.P733S	.	.	.	.	.	.	.	.	.	.	.	2363445	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.042108429973	0.0004	0.000199681	5.797e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs200561206	2.189e-05	2.189e-05	2.723e-05	1.65e-05	0.0007	1.584e-05	1.356e-05	0.0005	0.0004	0.0007	0.0001	0	0	0	0	0	3.313e-05	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.25	0.92824	T	0.995	0.67487	D	0.87	0.61806	P	0.000001	0.84330	D	0.056497	0.984906	0.81001	D	2.22	0.62911	M	-0.2	0.66113	T	-4.59	0.82341	D	0.613	0.67391	-0.3948	0.72191	T	0.368	0.72788	T	10	0.41118026	0.56235	T	0.042108	0.60287	D	0.262	0.57482	.	.	0.727708087949	0.72529	0.29019743614736254	0.28932	0.516374766168	0.49524	0.374162375927	0.21427	T	0.569712	0.85732	D	0.0449696	0.57692	T	0.224343	0.84390	D	0.743467390537262	0.42925	D	0.79582	0.43907	T	0.6161504	0.73557	0.6060236	0.77096	0.6161504	0.73558	0.6060236	0.77097	-3.544	0.17053	T	.	.	0.164	0.36174	B	.;.	.;.	3.833235	0.55424	23.6	0.99852088079429491	0.93102	0.36152	0.25467	N	ALL	0.497179	0.53181	N	0.582371002322038	0.72074	5.748948	0.582755717311111	0.73706	6.014214	0.999999999999765	0.74766	0.658043	0.49183	0	0.403836	0.06315	2	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.67	5.67	0.87673	3.247000	0.51123	5.881000	0.50644	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.452000	0.27939	0.0:1.0:0.0:0.0	16.678	0.85142	148	0.94114	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	785.83	70	chr22	41763250	.	C	T	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.08;DP=322;ExcessHet=0;FS=2.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=2.27;SOR=1.355	GT:AD:DP:GQ:PL	0/1:24,26:50:99:796,0,725	5	0	1	0
chr22	42126877	42126877	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon7:c.C1136T:p.P379L,CYP2D6:NM_000106:exon8:c.C1289T:p.P430L	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.144987812844	.	0.000599042	0.0004	0.0011	0	0	0	0.0001	0	0.0005	0.0001921	5	26028	rs3021084	0.0001	0.0002	9.225e-05	0.0001	0.0006	9.07e-05	8.54e-05	0.0005	0.0004	0.0005	0.0001	0	0.0001	0	0.0005	6.158e-05	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.579e-05	0	0.0002	0	0	7.382e-05	0	0.0006	0.019	0.50132	D	0.073	0.48336	T	.	.	.	.	.	.	0.717800	0.09960	N	0.871665	0.971698	0.25640	N	1.255	0.31814	L	-0.44	0.69777	T	-3.77	0.76655	D	0.211	0.32370	-0.5623	0.66316	T	0.398	0.75045	T	10	0.07836032	0.12479	T	0.144988	0.82721	D	0.323	0.64522	.	.	0.774184965001	0.77210	0.5618480706216105	0.56111	0.444170810499	0.44332	0.272574156523	0.06479	T	0.015828	0.30526	T	-0.385736	0.02865	T	-0.467916	0.25742	T	0.0947852012280804	0.11773	T	0.964504	0.86967	D	0.1406056	0.32433	0.1346403	0.32257	0.1406056	0.32433	0.1346403	0.32256	-9.465	0.70840	D	.	.	0.205	0.44592	B	.;.;.;.;.	.;.;.;.;.	2.165884	0.27598	17.52	0.99575945526640208	0.72682	0.06982	0.13008	N	AEFI	0.399828	0.47496	N	-0.224322569620784	0.32137	1.809272	-0.434078138476595	0.24004	1.312076	1.18816738180606E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.604944	0.38103	0	.	.	4.85	-0.28	0.12248	-1.132000	0.03346	-4.030000	0.02383	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.787000	0.37188	0.0:0.0942:0.2238:0.682	11.175	0.47819	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	805.83	57	chr22	42126877	.	G	A	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=417;ExcessHet=0;FS=7.693;MLEAC=1;MLEAF=0.083;MQ=36.41;MQRankSum=-1.041;QD=3.97;ReadPosRankSum=-2.633;SOR=1.283	GT:AD:DP:GQ:PL	0/1:156,47:203:99:816,0,3752	5	0	1	0
chr22	43683848	43683848	A	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon10:c.T694G:p.S232A,EFCAB6:NM_022785:exon12:c.T1150G:p.S384A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0091	0.00858626	0.0024	0.0275	0.0003	0	0	3.001e-05	0.0011	0	0.0023868	369	154602	rs6006438	0.0008	0.0008	0.0009	0.0007	0.0307	0.0008	0.0008	0.0291	0.0285	0.0307	0.0008	0	0	0	0.0004	1.447e-05	0.0015	4.646e-05	0.0077	0.0077	0.0082	0.0072	0.0272	0.0073	0.0072	0.0259	0.0254	0.0272	0	0.0015	0	0	0	0	0.0001	0.0061	0	0.652	0.04817	T	0.971	0.02647	T	0.001	0.07471	B	0.003	0.08700	B	0.596071	0.11003	N	0.785032	1	0.08975	N	1.64	0.41913	L	2.61	0.13204	T	-0.44	0.14588	N	0.084	0.06059	-0.9430	0.42137	T	0.006	0.01907	T	10	0.0026966035	0.00042	T	.	.	.	0.015	0.02232	.	.	0.136095386433	0.13204	0.06796475099917806	0.06734	0.0484645840277	0.05293	0.298857390881	0.10230	T	9.42E-4	0.00494	T	-0.737829	0.00021	T	-0.811667	0.01628	T	0.00116505628805757	0.00011	T	0.226477	0.02994	T	0.04073021	0.05870	0.03544781	0.02798	0.04073021	0.05869	0.03544781	0.02798	-4.379	0.29285	T	.	.	0.080	0.07602	B	.;.	.;.	0.518097	0.08869	5.648	0.20763979530192511	0.00761	0.03850	0.09204	N	AEFBI	0.045266	0.07382	N	-1.08661005602721	0.06889	0.3184436	-1.06574018743229	0.08382	0.4118909	1.20605718559887E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.48	-0.515	0.11357	-0.003000	0.12836	0.601000	0.19925	0.691000	0.84096	0.000000	0.06391	0.001000	0.17328	0.875000	0.41745	0.408:0.3816:0.2103:0.0	4.175	0.09808	922	0.19044	.;.	.	.	.	.	.	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	0	0	0.001008	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	983.83	34	chr22	43683848	.	A	C	983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.026;DP=271;ExcessHet=0;FS=1.68;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.182;SOR=0.889	GT:AD:DP:GQ:PL	0/1:52,41:93:99:994,0,1427	5	0	1	0
chr22	44736778	44736778	G	A	exonic	PRR5	.	nonsynonymous SNV	PRR5:NM_001017529:exon8:c.G413A:p.R138H,PRR5:NM_001017530:exon8:c.G413A:p.R138H,PRR5:NM_181333:exon8:c.G698A:p.R233H,PRR5:NM_001017528:exon9:c.G671A:p.R224H,PRR5:NM_015366:exon9:c.G671A:p.R224H,PRR5:NM_001198721:exon10:c.G767A:p.R256H	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0116843165767	0.0005	.	0.0001	0.0011	8.846e-05	0.0001	0	3.347e-05	0	0.0001	0.0001358	21	154602	rs113430838	8.798e-05	9.303e-05	9.206e-05	8.375e-05	0.0023	7.523e-05	7.046e-05	0.0018	0.0017	0.0023	0.0002	0	2.579e-05	0	0.0005	1.12e-05	0.0004	0.0001	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0.0002	0	0.0002	0	0	0	0	0	0.064	0.36509	T	0.085	0.44905	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	1.41	0.47815	T	-1.3	0.32590	N	0.108	0.09349	-1.0497	0.14481	T	0.100	0.37239	T	9	0.016954422	0.00359	T	0.011684	0.29546	T	0.029	0.06676	.	.	0.174091166621	0.17034	0.3664066162879995	0.36554	0.230222229105	0.25573	.	.	.	0.042381	0.26903	T	-0.489019	0.00658	T	-0.481076	0.24331	T	0.00786337331207572	0.00092	T	0.786121	0.43772	T	0.03667805	0.04560	0.04316138	0.05307	0.03667805	0.04559	0.04316138	0.05307	-4.494	0.30810	T	.	.	0.057	0.00754	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.837303	0.23342	15.98	0.98377477105455047	0.40812	0.64865	0.32547	D	AEFDBCIJ	0.253782	0.37321	N	-0.730353849904913	0.15171	0.7623239	-0.668865335521973	0.17740	0.9446849	0.999996094198132	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.41	2.16	0.26663	1.308000	0.33133	5.770000	0.49737	-0.187000	0.09635	0.333000	0.25615	1.000000	0.68203	0.008000	0.08271	0.3164:0.0:0.6836:0.0	7.372	0.25980	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001543	0.000000	0.001359	0.006098	0.000000	0.000000	0.000000	0.000000	0.08333	860.83	35	chr22	44736778	.	G	A	860.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.422;DP=248;ExcessHet=0;FS=3.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.258;SOR=0.394	GT:AD:DP:GQ:PL	0/1:33,35:68:99:871,0,827	5	0	1	0
chr22	50099551	50099551	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon3:c.G391A:p.A131T,MOV10L1:NM_001164105:exon3:c.G331A:p.A111T,MOV10L1:NM_018995:exon3:c.G391A:p.A131T	.	427	1082	13	0	0	13	0.00597152	.	.	.	2819741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0048	0.00319489	0.0063	0.0006	0.0008	0	0.0045	0.0075	0.0055	0.0130	0.0059443	919	154602	rs140532446	0.0063	0.0063	0.0059	0.0066	0.0119	0.0061	0.0061	0.0113	0.0110	0.0011	0.0014	0.0044	2.519e-05	0.0051	0.0049	0.0065	0.0054	0.0119	0.0051	0.0051	0.0052	0.0050	0.0110	0.0048	0.0047	0.0086	0.0078	0.0008	0.0175	0.0040	0.0052	0	0.0047	0	0.0079	0.0047	0.0110	0.131	0.27663	T	0.283	0.27679	T	0.06	0.23119	B	0.012	0.16012	B	0.065208	0.21897	N	0.499227	1	0.29541	N	0.995	0.25082	L	0.99	0.41750	T	-1.65	0.39503	N	0.126	0.14054	-1.0202	0.23649	T	0.064	0.26597	T	10	0.009549081	0.00215	T	.	.	.	0.035	0.08770	.	.	0.385906861911	0.38208	0.23159866864943857	0.23074	0.0885955950307	0.10020	0.324762225151	0.14142	T	0.068284	0.33418	T	-0.58178	0.00188	T	-0.597432	0.13028	T	0.00551561521669583	0.00060	T	0.614539	0.23564	T	0.062453996	0.13045	0.09583693	0.22747	0.062453996	0.13045	0.09583693	0.22746	-4.22	0.27040	T	.	.	0.081	0.13315	B	.;.;.;.	.;.;.;.	1.892568	0.24040	16.25	0.97746239927388634	0.35714	0.64828	0.32534	D	AEFGI	0.137595	0.25862	N	-0.441556498442041	0.24028	1.294502	-0.416078732536775	0.24525	1.343467	0.00578068170499047	0.11039	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.76	3.64	0.40864	2.114000	0.41535	2.139000	0.30831	0.676000	0.76740	0.941000	0.32681	0.465000	0.25022	0.001000	0.02609	0.1719:0.0:0.8281:0.0	9.074	0.35672	934	0.15400	.;.;.;.	.	.	.	.	.	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	0.006042	0.000000	0.005435	0.002924	0.000000	0.017241	0.003049	0.015152	0.08333	910.83	35	chr22	50099551	.	G	A	910.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=266;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=2.2;SOR=0.43	GT:AD:DP:GQ:PL	0/1:45,37:82:99:921,0,1205	5	0	1	0
chrX	16152542	16152542	C	T	exonic	GRPR	.	nonsynonymous SNV	GRPR:NM_005314:exon3:c.C1052T:p.T351I	.	0	1521	1	0	0	1	0.000328623	.	.	.	3678917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.159576804717	.	.	1.143e-05	0	0	0	0	2.088e-05	0	0	6.5e-06	1	154602	rs745896020	1.827e-06	1.821e-06	1.361e-06	2.777e-06	.	3e-07	1.1e-07	.	.	0	0	0	0	0	0	0	4.35e-05	0	8.906e-06	8.7e-06	1.284e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.395	0.15255	T	0.001	0.07471	B	0.002	0.06944	B	0.006031	0.32324	N	0.326738	0.56572	0.31220	N	0.755	0.19153	N	1.19	0.37578	T	-0.05	0.07736	N	0.108	0.09349	-1.0559	0.12803	T	0.054	0.22921	T	10	0.06801358	0.09560	T	0.159577	0.83975	D	0.045	0.12272	0.293	0.25560	0.59634542923	0.59313	0.4169033471408151	0.41606	0.374480411608	0.38907	0.405451983213	0.25827	T	0.283826	0.65659	T	-0.334342	0.05789	T	-0.718035	0.04891	T	0.0702142272700865	0.08681	T	0.665433	0.27458	T	0.07563518	0.17055	0.07983027	0.18007	0.07563518	0.17054	0.07983027	0.18007	-4.387	0.29381	T	.	.	0.098	0.16275	B	.	.	1.870678	0.23763	16.14	0.8753968485425847	0.17300	0.39678	0.26266	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999387962804986	0.39415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	4.6	0.56512	1.465000	0.34909	3.959000	0.40733	0.599000	0.40250	0.874000	0.30870	0.999000	0.35428	0.949000	0.49496	0.0:0.7152:0.0:0.2848	5.226	0.14718	422	0.81333	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	3202.83	36	chrX	16152542	.	C	T	3202.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.72;DP=398;ExcessHet=0;FS=0.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.575;SOR=0.65	GT:AD:DP:GQ:PL	0/1:95,118:213:99:3213,0,2475	5	0	1	0
chrX	23000457	23000457	A	G	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.A400G:p.I134V	.	419	1100	2	1	0	4	0.00181488	.	.	.	2202962	not_provided|not_specified|DDX53-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00112413068226	9.5e-05	0.000529801	0.0003	0	0.0004	0	0	0.0003	0.0016	9.899e-05	0.0002781	43	154602	rs149084464	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0013	0.0010	7.575e-05	0.0008	0	6.624e-05	0	0.0024	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	6.484e-05	0	0.0005	0	0.0003	0	0.0046	0.0004	0.0013	0.0004	0.679	0.04443	T	0.588	0.08273	T	0.0	0.02946	B	0.0	0.01387	B	0.241726	0.03587	N	1.635260	1	0.08975	N	-1.18	0.00862	N	2.17	0.19020	T	0.4	0.03463	N	0.004	0.00025	-1.0154	0.25207	T	0.015	0.06234	T	10	0.0146482885	0.00308	T	0.001124	0.01360	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.1021775503329244	0.10147	0.0748231646894	0.08394	0.243973568082	0.03160	T	0.003791	0.03201	T	-0.855643	0.00002	T	-1.11513	0.00020	T	0.00905508510124681	0.00113	T	0.146985	0.01214	T	0.026031999	0.01611	0.037016563	0.03266	0.026031999	0.01611	0.037016563	0.03266	-2.997	0.10149	T	.	.	0.058	0.00705	B	.	.	-0.799288	0.01108	0.050	0.5306009052501891	0.04866	0.00036	0.00313	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.304524613990333	0.19224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.97	-2.29	0.06419	0.279000	0.18532	-0.033000	0.12769	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5607:0.0:0.2722:0.1671	4.657	0.12009	974	0.05496	.	.	.	.	.	.	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	0.004132	0.000000	0.007421	0.000000	0.000000	0.011765	0.004425	0.000000	0.08333	956.83	33	chrX	23000457	.	A	G	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.291;DP=273;ExcessHet=0;FS=3.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.408;SOR=0.384	GT:AD:DP:GQ:PL	0/1:62,40:102:99:967,0,1792	5	0	1	0
chrX	41197453	41197453	A	C	exonic	USP9X	.	nonsynonymous SNV	USP9X:NM_001039590:exon29:c.A4323C:p.Q1441H,USP9X:NM_001039591:exon29:c.A4323C:p.Q1441H	Mental retardation, X-linked 99, X-linked recessive;Mental retardation, X-linked 99, syndromic, female-restricted, X-linked dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0211803384254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.735e-06	2.732e-06	4.084e-06	0	3.566e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.566e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43708	D	0.054	0.47097	T	0.307	0.32716	B	0.08	0.28873	B	0.000000	0.84330	D	0.000000	0.99978	0.49076	D	1.87	0.49600	L	4.08	0.03033	T	-2.1	0.47852	N	0.574	0.59648	-0.9056	0.47378	T	0.011	0.03949	T	10	0.3147925	0.48917	T	0.02118	0.43908	T	0.201	0.48592	0.429	0.47680	0.718785486845	0.71631	0.7403117398647183	0.73976	1.98726426833	0.93697	0.826097846031	0.85964	D	0.327907	0.69837	T	-0.0936575	0.37471	T	-0.372309	0.36619	T	0.825050950050354	0.48150	D	0.923508	0.72088	D	0.37685436	0.59088	0.26221272	0.52010	0.37685436	0.59088	0.26221272	0.52009	-11.504	0.82351	D	0.20552212285733948	0.27420	0.824	0.79500	P	.;.	.;.	2.118775	0.26965	17.30	0.99366419463230971	0.61240	0.86594	0.45907	D	AEFBI	.	.	.	.	.	.	.	.	.	0.17039089438053	0.17727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	2.39	0.28492	1.278000	0.32784	0.941000	0.22852	0.691000	0.84096	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.5829:0.0:0.4171:0.0	8.460	0.32082	109	0.95526	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1168.83	40	chrX	41197453	.	A	C	1168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=289;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.17;SOR=0.352	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1179,0,810	5	0	1	0
chrX	49174341	49174341	G	A	exonic	PLP2	.	nonsynonymous SNV	PLP2:NM_002668:exon4:c.G352A:p.G118S	.	.	.	.	.	.	.	.	.	.	.	4006954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.570	0.0213656199335	.	0.000264901	0.0002	0	0	0	0	0	0	0.0015	0.0001358	21	154602	rs782564725	6.773e-05	6.74e-05	4.494e-05	0.0001	0.0012	5.519e-05	5.054e-05	0.0010	0.0009	0	0	0	0	0	0	3.585e-06	8.712e-05	0.0012	3.591e-05	3.482e-05	2.571e-05	5.955e-05	0.0015	1.139e-05	6.65e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0015	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	0.999995	0.58761	D	3.065	0.87014	M	1.53	0.30401	T	-4.78	0.80510	D	0.296	0.33469	-0.6481	0.62797	T	0.222	0.58562	T	10	0.24309906	0.41518	T	0.021366	0.44128	T	0.570	0.82516	0.892	0.97414	0.734023175224	0.73164	0.9216257653631107	0.92138	0.672002035909	0.59500	0.599998176098	0.52903	T	0.281756	0.65449	T	-0.0318897	0.47143	T	0.146038	0.79933	D	0.674730777740479	0.39549	D	0.838216	0.51127	T	0.9622755	0.97508	0.9471843	0.98227	0.9622755	0.97509	0.9471843	0.98227	-8.424	0.63924	D	.	.	0.616	0.69542	P	.	.	4.494881	0.70253	25.5	0.99803700358736602	0.88817	0.95222	0.63891	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999999999988305	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	3.537000	0.53345	9.561000	0.80994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.0:0.0:1.0:0.0	15.935	0.79492	32	0.98147	Marvel domain|Marvel 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	.	.	.	.	.	.	.	.	0.08333	2272.83	34	chrX	49174341	.	G	A	2272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.8;DP=361;ExcessHet=0;FS=1.831;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.708;SOR=0.872	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2283,0,2632	5	0	1	0
chrX	52645516	52645516	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C494T:p.T165I	.	576	944	2	0	0	2	0.0010582	.	.	.	743392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.0015894	0.0013	0	0	0	0	2.213e-05	0	0.0137	0.0012742	197	154602	rs200360993	0.0007	0.0007	0.0005	0.0011	0.0126	0.0006	0.0006	0.0118	0.0115	3.812e-05	0.0001	0	3.318e-05	0	0.0003	2.384e-06	0.0007	0.0126	0.0003	0.0003	0.0002	0.0004	0.0114	0.0002	0.0002	0.0080	0.0068	0	0	0.0001	0	0	0	0	0	0.0007	0.0114	0.016	0.51853	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.755552	0.09665	N	0.876709	1	0.08975	N	1.39	0.34934	L	3.08	0.08460	T	-2.67	0.57110	D	0.109	0.09490	-1.0125	0.26133	T	0.040	0.17362	T	9	0.0044635236	0.00092	T	.	.	.	0.037	0.09474	0.411	0.44723	0.15556083564	0.15200	0.02881544894136963	0.02831	0.0833042759412	0.09392	.	.	.	0.012097	0.10690	T	-0.739551	0.00021	T	-0.824703	0.01360	T	0.0479385093378901	0.05133	T	0.647535	0.25853	T	0.2246787	0.45114	0.15986992	0.37263	0.2246787	0.45114	0.15986992	0.37262	-6.654	0.51463	T	.	.	0.307	0.53518	B	.	.	1.027315	0.14072	10.64	0.9959945065165291	0.74101	0.00395	0.01981	N	AEFI	.	.	.	.	.	.	.	.	.	1.97395819386176E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.541	0.16359	-0.155000	0.10101	-6.416000	0.01404	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	Likely benign	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	1	0	0.003342	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023952	0.08333	585.83	33	chrX	52645516	.	G	A	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.239;DP=212;ExcessHet=0;FS=11.742;MLEAC=1;MLEAF=0.083;MQ=37.27;MQRankSum=-0.158;QD=14.29;ReadPosRankSum=-0.757;SOR=2.742	GT:AD:DP:GQ:PL	0/1:20,21:41:99:596,0,626	5	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1081.83	431	chrX	55146088	.	G	T	1081.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.185;DP=2401;ExcessHet=0;FS=1.555;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=-0.414;SOR=0.882	GT:AD:DP:GQ:PL	0/1:378,76:454:99:1092,0,11960	5	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	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	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:111,367:478:99:10072,0,1923	0	0	6	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:94,249:343:99:7437,0,1806	0	0	6	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:67,141:208:99:4401,0,1643	0	0	6	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:60,100:160:99:3106,0,1476	0	0	6	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	2587.96	178	chrX	55146283	.	C	T	2587.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.931;DP=1031;ExcessHet=3.1439;FS=3.064;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-1.88;SOR=0.618	GT:AD:DP:GQ:PL	0/1:115,14:129:99:118,0,4153	2	0	4	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,16:215:73:0|1:74591902_T_A:73,0,8267:74591902	1	0	5	0
chrX	77682450	77682450	C	A	exonic	ATRX	.	nonsynonymous SNV	ATRX:NM_138270:exon8:c.G2692T:p.V898F,ATRX:NM_000489:exon9:c.G2806T:p.V936F	Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome, X-linked dominant;Mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1150981	Alpha_thalassemia-X-linked_intellectual_disability_syndrome	MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.114195488404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	0.0005	3e-07	1.1e-07	8.518e-05	3.547e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.053	0.48080	T	0.008	0.14655	B	0.006	0.12133	B	0.487789	0.12091	N	0.766232	1	0.08975	N	.	.	.	-2.93	0.91851	D	-0.55	0.16799	N	0.123	0.16864	-0.3674	0.73040	T	0.533	0.82685	D	10	0.07415575	0.11297	T	0.114195	0.79296	D	0.162	0.41843	0.198	0.11110	0.476659674421	0.47294	0.11060837042584418	0.10989	0.0310373370127	0.03212	0.294697761536	0.09613	T	0.014986	0.16908	T	-0.116545	0.33690	T	-0.405186	0.32782	T	0.0323680683570883	0.02367	T	0.877512	0.59309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.25034	B	.;.;.;.	.;.;.;.	1.327979	0.17329	13.10	0.5005886321335683	0.04318	0.23267	0.22020	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999441499386051	0.39736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	3.05	0.34272	0.501000	0.22286	0.569000	0.19588	0.599000	0.40250	0.000000	0.06391	0.956000	0.29165	0.583000	0.30967	0.0:0.7849:0.0:0.2151	10.772	0.45530	200	0.92234	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1272.83	33	chrX	77682450	.	C	A	1272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=266;ExcessHet=0;FS=1.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.551;SOR=0.679	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1283,0,1426	5	0	1	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H,TAF7L:NM_024885:exon13:c.G1373A:p.R458H	.	2	1488	22	10	0	42	0.0139165	.	.	.	1196264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.035368	0.020408	0.029685	0.086957	0.071429	0.035294	0.008850	0.021053	0.08333	437.83	34	chrX	101269209	.	C	T	437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.765;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.06;SOR=0.821	GT:AD:DP:GQ:PL	0/1:22,19:41:99:448,0,617	5	0	1	0
chrX	110451074	110451074	G	A	exonic	RTL9	.	nonsynonymous SNV	RTL9:NM_001385449:exon3:c.G457A:p.A153T,RTL9:NM_020769:exon3:c.G457A:p.A153T	.	435	1071	12	4	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0080	0.00211921	0.0087	0.0007	0.0068	0	0.0119	0.0124	0.0126	0.0039	0.0080917	1251	154602	rs41304450	0.0096	0.0096	0.0097	0.0095	0.0176	0.0095	0.0094	0.0144	0.0132	0.0012	0.0059	0.0180	6.622e-05	0.0146	0.0176	0.0102	0.0108	0.0039	0.0073	0.0074	0.0074	0.0072	0.0109	0.0069	0.0068	0.0102	0.0099	0.0013	0.0029	0.0050	0.0200	0	0.0109	0.0046	0.0109	0.0125	0.0026	1.0	0.00964	T	0.905	0.03004	T	0.0	0.02946	B	0.001	0.04355	B	0.593096	0.05603	N	1.303370	1	0.08975	N	.	.	.	0.91	0.44856	T	1.66	0.00606	N	0.018	0.00308	-1.0491	0.14649	T	0.026	0.10954	T	9	0.0024462938	0.00037	T	.	.	.	0.013	0.01715	.	.	0.043077524339	0.03247	0.12032266470177874	0.11959	0.0483123807516	0.05281	0.331653416157	0.15185	T	4.22E-4	0.00140	T	-0.961969	0.00000	T	-1.14419	0.00010	T	0.00150134173263901	0.00015	T	0.344066	0.07525	T	0.04297989	0.06616	0.073714465	0.16050	0.04297989	0.06616	0.073714465	0.16050	-2.078	0.03490	T	.	.	0.066	0.02285	B	.;.	.;.	-2.156037	0.00071	0.001	0.10006586930208605	0.00116	0.00297	0.01586	N	AEFBI	.	.	.	.	.	.	.	.	.	0.43296194938506	0.20388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	-5.03	0.02751	-1.035000	0.03674	-0.224000	0.10736	-1.463000	0.01080	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.27:0.0:0.4169:0.3132	4.225	0.10033	116	0.95299	.;.	.	.	.	.	.	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	0.019364	0.006803	0.029685	0.023715	0.071429	0.035294	0.004425	0.000000	0.08333	2605.83	37	chrX	110451074	.	G	A	2605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.34;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.44;SOR=0.718	GT:AD:DP:GQ:PL	0/1:116,91:207:99:2616,0,3327	5	0	1	0
chrX	115191332	115191332	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1891C:p.E631Q	.	440	1060	17	5	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00109112982056	.	0.000529801	0.0027	0.0006	0.0032	0	0.0067	0.0017	0	0.0042	0.0005627	87	154602	rs201518011	0.0021	0.0020	0.0021	0.0022	0.0105	0.0021	0.0020	0.0079	0.0071	0.0002	0.0003	0.0007	0	0.0029	0.0105	0.0022	0.0019	0.0034	0.0009	0.0010	0.0011	0.0005	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0003	0.0012	0	0.0009	0.0060	0.0015	0.0007	0.0008	0.0	0.91255	D	0.48	0.11899	T	0.831	0.46109	P	0.557	0.49454	P	.	.	.	.	0.999986	0.18198	N	0.55	0.14455	N	3.42	0.05507	T	-0.27	0.11366	N	0.028	0.00618	-0.9662	0.37974	T	0.012	0.04747	T	9	0.0048033893	0.00102	T	0.001091	0.01287	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.008967215656300098	0.00859	.	.	0.48147302866	0.36260	T	0.003683	0.03091	T	-0.816133	0.00006	T	-0.949398	0.00264	T	0.065986807732433	0.08075	T	0.393061	0.09795	T	0.14561872	0.33372	0.14239101	0.33876	0.14561872	0.33372	0.14239101	0.33875	-9.698	0.72084	D	.	.	0.353	0.56773	A	.	.	1.536580	0.19710	14.40	0.9866867258465577	0.44442	0.00764	0.03159	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0023180949260896	0.09317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	-0.557	0.11209	-1.529000	0.02327	0.708000	0.20910	0.306000	0.19039	0.000000	0.06391	0.008000	0.19753	0.001000	0.02609	0.3291:0.0:0.6709:0.0	4.319	0.10446	937	0.14592	.	.	.	.	.	.	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	0.003911	0.000000	0.000000	0.000000	0.000000	0.076923	0.007463	0.000000	0.1	1519.7	179	chrX	115191332	.	G	C	1519.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.148;DP=911;ExcessHet=0;FS=1.273;MLEAC=1;MLEAF=0.1;MQ=59.29;MQRankSum=1.26;QD=7.71;ReadPosRankSum=0.85;SOR=0.812	GT:AD:DP:GQ:PL	0/1:125,72:197:99:1529,0,2072	4	0	1	1
chrX	119605953	119605953	-	A	exonic	NKRF	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.092e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	74.64	.	chrX	119605953	.	G	GA	74.64	.	AC=2;AF=0.5;AN=4;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=24.88;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:8:85,8,0	1	1	0	4
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	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	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.08333	334.83	33	chrX	120379482	.	A	T	334.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.382;SOR=0.446	GT:AD:DP:GQ:PL	0/1:20,13:33:99:345,0,531	5	0	1	0
chrX	120874943	120874969	TCCTCTGTGGCCTCCTCTGTGAGCTTC	-	exonic	CT47B1	.	nonframeshift deletion	CT47B1:NM_001145718:exon1:c.702_728del:p.K235_E243del	.	17	1471	27	7	0	41	0.0137446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0005	0.0043	0	0.0056	0.0076	0.0080	0.0024	0.0002689	7	26028	rs771317536	0.0051	0.0052	0.0052	0.0049	0.0188	0.0050	0.0049	0.0152	0.0138	0.0008	0.0040	0.0044	0	0.0069	0.0188	0.0055	0.0057	0.0017	0.0046	0.0046	0.0047	0.0043	0.0074	0.0042	0.0041	0.0068	0.0066	0.0006	0.0190	0.0027	0.0049	0	0.0051	0.0047	0.0074	0.0060	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	217.79	33	chrX	120874942	.	TTCCTCTGTGGCCTCCTCTGTGAGCTTC	T	217.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.825;DP=213;ExcessHet=0;FS=6.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=-0.216;SOR=1.819	GT:AD:DP:GQ:PL	0/1:35,8:43:99:228,0,1419	5	0	1	0
chrX	132669134	132669134	C	T	exonic	HS6ST2	.	nonsynonymous SNV	HS6ST2:NM_001077188:exon5:c.G1046A:p.R349Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0192522507933	0.0003	0.0010596	0.0014	0	0.0018	0	0	0.0014	0.0017	0.0044	0.0012031	186	154602	rs201239951	0.0009	0.0009	0.0008	0.0011	0.0039	0.0008	0.0008	0.0031	0.0029	0.0002	0.0015	0.0170	3.323e-05	4.94e-05	0.0039	0.0004	0.0017	0.0035	0.0008	0.0008	0.0007	0.0011	0.0031	0.0007	0.0006	0.0015	0.0011	9.776e-05	0	0.0015	0.0155	0	0	0	0.0004	0.0013	0.0031	0.007	0.59928	D	0.064	0.44905	T	.	.	.	.	.	.	0.410568	0.13002	U	0.423768	1	0.81001	D	.	.	.	-0.58	0.71425	T	-0.69	0.19720	N	0.14	0.13911	-0.9002	0.47973	T	0.226	0.59032	T	10	0.006667018	0.00151	T	0.019252	0.41561	T	0.093	0.26882	.	.	0.652731858869	0.64984	0.5304026432894727	0.52964	0.711249349536	0.61720	0.302379369736	0.10756	T	.	.	.	-0.575706	0.00205	T	-0.603416	0.12526	T	0.037962485685805	0.03325	T	0.59564	0.22108	T	.	.	.	.	.	.	.	.	-2.991	0.10084	T	.	.	0.103	0.18247	B	.;.;.	.;.;.	2.947622	0.39208	20.9	0.9993386130405435	0.99535	0.54775	0.29698	D	AEFBI	.	.	.	.	.	.	.	.	.	0.84818917095557	0.24993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	2.31	0.27816	1.021000	0.29642	0.502000	0.19004	0.599000	0.40250	1.000000	0.71638	0.915000	0.28207	0.996000	0.76049	0.0:0.7504:0.0:0.2496	5.732	0.17314	498	0.76166	.;.;.	.	.	.	.	.	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	0.003546	0.000000	0.000000	0.004739	0.000000	0.000000	0.004425	0.015789	0.08333	745.83	34	chrX	132669134	.	C	T	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.161;DP=242;ExcessHet=0;FS=3.193;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-2.366;SOR=0.395	GT:AD:DP:GQ:PL	0/1:37,34:71:99:756,0,877	5	0	1	0
chrX	133026484	133026484	C	T	exonic	USP26	.	nonsynonymous SNV	USP26:NM_031907:exon1:c.G1737A:p.M579I	.	431	1076	9	6	0	21	0.00966406	.	.	.	729417	USP26-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.374	0.0223907102626	0.0038	0.0018543	0.0044	0.0006	0.0008	0	0.0078	0.0050	0.0064	0.0090	0.0044113	682	154602	rs138385391	0.0050	0.0050	0.0049	0.0054	0.0140	0.0049	0.0049	0.0112	0.0104	0.0004	0.0015	0.0017	0	0.0074	0.0140	0.0051	0.0041	0.0114	0.0034	0.0036	0.0033	0.0038	0.0099	0.0031	0.0030	0.0068	0.0058	0.0006	0.0015	0.0013	0.0019	0	0.0094	0.0141	0.0048	0.0041	0.0099	0.407	0.10245	T	0.598	0.07999	T	0.024	0.19075	B	0.085	0.29395	B	0.750155	0.06479	N	1.160920	1	0.08975	N	1	0.25136	L	-0.75	0.73311	T	-0.27	0.11366	N	0.045	0.01740	-0.9683	0.37551	T	0.152	0.48101	T	10	0.0056304634	0.00125	T	0.022391	0.45274	T	0.374	0.69273	0.803	0.92160	0.523702305895	0.52015	0.1713517148917736	0.17055	0.0730784716904	0.08188	0.385077238083	0.22974	T	0.001298	0.00775	T	-0.382146	0.03020	T	-0.312307	0.43411	T	0.00399468016474662	0.00042	T	0.316968	0.06317	T	0.073268145	0.16360	0.069739304	0.14731	0.073268145	0.16359	0.069739304	0.14730	-2.597	0.06481	T	.	.	0.283	0.51883	B	.;.	.;.	-0.466975	0.01975	0.172	0.53528743482868002	0.04957	0.03972	0.09383	N	AEFI	.	.	.	.	.	.	.	.	.	1.36546360856167E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	-0.933	0.09900	-0.964000	0.03943	-1.960000	0.04430	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3655:0.3176:0.0:0.3169	2.872	0.05275	603	0.67726	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	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	1	0	0.008276	0.006803	0.009276	0.011858	0.000000	0.011765	0.000000	0.010526	0.08333	812.83	34	chrX	133026484	.	C	T	812.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.039;DP=235;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.356;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,28:67:99:823,0,1266	5	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	64.5	77	chrX	135580144	.	G	C	64.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.534;DP=278;ExcessHet=3.1439;FS=273.052;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=0.229;SOR=9.327	GT:AD:DP:GQ:PL	0/1:27,16:49:36:36,0,444	2	0	4	0
chrX	136659336	136659336	C	T	exonic	CD40LG	.	nonsynonymous SNV	CD40LG:NM_000074:exon5:c.C707T:p.S236L	Immunodeficiency, X-linked, with hyper-IgM, X-linked recessive	.	.	.	.	.	.	.	.	.	.	860790	not_provided|Hyper-IgM_syndrome_type_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.71937934755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252281345	1.185e-05	1.184e-05	1.089e-05	1.38e-05	3.79e-05	6.61e-06	5.1e-06	6.01e-06	4.38e-06	3.79e-05	0	0	0	0	0	1.189e-05	2.171e-05	1.853e-05	3.57e-05	3.482e-05	5.139e-05	0	7.515e-05	1.134e-05	6.62e-06	2.552e-05	1.48e-05	0	0	0	0	0	0	0	7.515e-05	0	0	0.606	0.14497	T	0.159	0.37037	T	0.935	0.90584	P	0.31	0.97372	B	0.000752	0.42006	D	0.183442	0.927784	0.27136	N	2.175	0.60977	M	-3.49	0.94621	D	-2.22	0.52776	N	0.173	0.22742	0.338	0.88159	D	0.832	0.94369	D	10	0.46088967	0.59277	T	0.719379	0.97728	D	0.386	0.70276	.	.	0.956168750747	0.95570	0.5108619172039688	0.51008	0.882972301697	0.69839	0.460056483746	0.33318	T	0.849096	0.96549	D	0.125211	0.66892	D	-0.0579189	0.66477	T	0.785830005308975	0.45418	D	0.881612	0.60121	D	0.7034459	0.78246	0.62322295	0.78044	0.7034459	0.78247	0.62322295	0.78045	-5.746	0.44101	T	0.18158272986224608	0.23421	0.151	0.36375	B	.;.	.;.	3.061357	0.41109	21.3	0.97277777239656305	0.33167	0.55904	0.29981	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999905404119	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	5.47	0.80345	2.033000	0.40757	7.604000	0.61663	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.996000	0.76049	0.0:0.8315:0.0:0.1685	9.189	0.36350	191	0.92559	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain;Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor 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	.	.	.	.	.	.	.	.	0.08333	1010.83	33	chrX	136659336	.	C	T	1010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=259;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.547;SOR=0.896	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1021,0,1221	5	0	1	0
chrX	153866778	153866778	C	T	exonic	L1CAM	.	nonsynonymous SNV	L1CAM:NM_001143963:exon17:c.G2287A:p.V763I,L1CAM:NM_000425:exon18:c.G2302A:p.V768I,L1CAM:NM_024003:exon18:c.G2302A:p.V768I,L1CAM:NM_001278116:exon19:c.G2302A:p.V768I	CRASH syndrome, X-linked recessive;Corpus callosum, partial agenesis of, X-linked recessive;Hydrocephalus due to aqueductal stenosis, X-linked recessive;Hydrocephalus with Hirschsprung disease, X-linked recessive;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive;MASA syndrome, X-linked recessive	0	1501	15	6	0	27	0.00891383	.	.	.	98831	Spastic_paraplegia|not_specified|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.0016	0.00264901	0.0022	0.0002	0.0004	0	0.0004	0.0025	0.0032	0.0063	0.0022639	350	154602	rs36021462	0.0033	0.0033	0.0032	0.0036	0.0059	0.0032	0.0032	0.0054	0.0052	0.0003	0.0005	0	0	0.0008	0.0039	0.0037	0.0025	0.0059	0.0019	0.0019	0.0019	0.0018	0.0060	0.0017	0.0016	0.0038	0.0031	0.0006	0.0117	0.0004	0	0	0.0003	0	0.0030	0.0020	0.0060	0.004	0.65419	D	0.03	0.55341	D	0.265	0.40310	B	0.539	0.48797	P	0.001303	0.39449	N	0.107097	1	0.08975	N	1.645	0.42016	L	0.26	0.59314	T	-0.78	0.21644	N	0.088	0.10056	-0.8554	0.51592	T	0.229	0.59497	T	10	0.004782349	0.00101	T	.	.	.	0.081	0.23632	.	.	0.477087225981	0.47339	0.7691739690101598	0.76866	0.743790545488	0.63406	0.429857313633	0.29189	T	0.374624	0.73839	T	-0.570758	0.00219	T	-0.589741	0.13689	T	0.0324202180366073	0.02375	T	0.911109	0.68490	D	0.29763645	0.52692	0.2372083	0.49012	0.26925862	0.49998	0.23485817	0.48713	-6.299	0.48714	T	0.2835390748191692	0.37921	0.153	0.34160	B	.;.;.;.	.;.;.;.	2.328804	0.29829	18.25	0.99293621080318295	0.58362	0.07918	0.13905	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.708893416899347	0.22794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	4.4	0.52402	0.348000	0.19784	.	.	0.594000	0.32500	0.000000	0.06391	1.000000	0.68203	0.807000	0.38039	0.1577:0.8423:0.0:0.0	13.443	0.60573	155	0.93937	.;Fibronectin type III|Fibronectin type III|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	0.004129	0.020408	0.000000	0.003953	0.000000	0.011765	0.000000	0.005263	0.08333	879.83	35	chrX	153866778	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.086;DP=272;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.087;SOR=0.848	GT:AD:DP:GQ:PL	0/1:54,37:91:99:890,0,1471	5	0	1	0
chrX	153905742	153905742	G	C	exonic	AVPR2	.	nonsynonymous SNV	AVPR2:NM_000054:exon3:c.G236C:p.G79A,AVPR2:NM_001146151:exon3:c.G236C:p.G79A	Diabetes insipidus, nephrogenic, X-linked recessive;Nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive	1	1520	0	1	0	2	0.000657462	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0841369704004	.	0.000264901	4.711e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs782026554	5.11e-05	5.099e-05	4.089e-05	7.178e-05	0.0007	4.035e-05	3.627e-05	0.0005	0.0004	0	0	0	3.311e-05	0.0004	0	0	8.682e-05	0.0007	2.641e-05	4.346e-05	2.569e-05	2.797e-05	0.0007	7.02e-06	2.95e-06	0.0001	5.198e-05	0	0	0	0	0	0.0002	0	0	0	0.0007	0.143	0.25355	T	0.569	0.08839	T	0.044	0.21686	B	0.039	0.23607	B	0.627882	0.10715	N	0.838794	0.991247	0.24061	N	0.55	0.14455	N	-0.59	0.71543	T	1.76	0.00711	N	0.097	0.11626	-0.9899	0.32626	T	0.146	0.47056	T	10	0.038154215	0.02215	T	0.084137	0.74264	D	0.067	0.19503	0.488	0.57257	0.994642312817	0.99458	0.7270828434861616	0.72652	0.647229036831	0.58108	0.58970862627	0.51453	T	0.267889	0.63996	T	-0.486069	0.00683	T	-0.574071	0.15078	T	0.0130755372147554	0.00229	T	0.917708	0.83911	D	0.13175407	0.30701	0.11888255	0.28695	0.13175407	0.30701	0.11888255	0.28694	-3.05	0.10730	T	0.07101873564073517	0.02791	0.083	0.11366	B	.;.;.;.;.	.;.;.;.;.	1.595619	0.20407	14.73	0.7466041224132931	0.10779	0.27386	0.23263	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999995605733143	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.03	2.02	0.25641	0.318000	0.19252	.	.	0.591000	0.32079	0.000000	0.06391	1.000000	0.68203	0.985000	0.61073	0.0:0.1589:0.3597:0.4814	6.410	0.20889	180	0.92993	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	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	0.001376	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.005263	0.08333	881.83	50	chrX	153905742	.	G	C	881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.28;DP=291;ExcessHet=0;FS=4.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.306;SOR=0.349	GT:AD:DP:GQ:PL	0/1:42,34:76:99:892,0,1218	5	0	1	0
chrX	154354678	154354678	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001456:exon31:c.C5227T:p.P1743S,FLNA:NM_001110556:exon32:c.C5251T:p.P1751S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	0	1495	17	10	0	37	0.0122233	.	.	.	210478	not_specified|Connective_tissue_disorder|not_provided|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0688554207083	0.0006	0.000264901	0.0010	0	0.0003	0	0	0.0016	0	0.0008	0.0008215	127	154602	rs56102764	0.0008	0.0008	0.0007	0.0009	0.0111	0.0007	0.0007	0.0086	0.0077	0.0001	0.0001	0.0049	0	0	0.0111	0.0007	0.0014	0.0009	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0006	0.0008	0.0008	9.589e-05	0	0.0005	0.0053	0	0	0.0092	0.0011	0.0013	0	0.402	0.10412	T	0.508	0.10930	T	0.0	0.02946	B	0.001	0.06944	B	0.228215	0.15980	N	0.540328	1	0.18198	N	0	0.06538	N	-1.95	0.85173	D	0.02	0.06739	N	0.088	0.09631	-0.8851	0.49349	T	0.298	0.66970	T	10	0.0062868297	0.00142	T	0.068855	0.70567	D	0.062	0.17934	.	.	0.671905356834	0.66913	0.3444627069783037	0.34360	0.521825689874	0.49937	0.378045916557	0.21979	T	0.299845	0.67236	T	-0.477137	0.00769	T	-0.508592	0.21461	T	0.00247827947654632	0.00026	T	0.728927	0.35940	T	0.033331018	0.03532	0.07627959	0.16878	0.03553647	0.04202	0.089947626	0.21065	-2.951	0.10159	T	.	.	0.055	0.00793	B	.;.;.;.;.	.;.;.;.;.	1.144072	0.15318	11.76	0.79263957656027895	0.12663	0.04485	0.10101	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919255220996	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.67	0.817	0.17914	0.541000	0.22915	0.735000	0.21116	0.650000	0.52971	0.329000	0.25581	0.534000	0.25378	0.682000	0.33600	0.3881:0.1682:0.4438:0.0	4.089	0.09437	77	0.96778	.;.;.;.;.	.	.	.	.	.	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	0.009066	0.006993	0.005576	0.012048	0.000000	0.023529	0.009050	0.010638	0.08333	862.83	36	chrX	154354678	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.71;SOR=0.757	GT:AD:DP:GQ:PL	0/1:31,27:58:99:873,0,992	5	0	1	0
chrX	154556314	154556314	G	A	exonic	IKBKG	.	nonsynonymous SNV	IKBKG:NM_001099856:exon3:c.G541A:p.D181N,IKBKG:NM_001099857:exon3:c.G337A:p.D113N,IKBKG:NM_001145255:exon3:c.G337A:p.D113N,IKBKG:NM_001321396:exon3:c.G337A:p.D113N,IKBKG:NM_001321397:exon3:c.G337A:p.D113N,IKBKG:NM_001377312:exon3:c.G337A:p.D113N,IKBKG:NM_001377313:exon3:c.G337A:p.D113N,IKBKG:NM_001377314:exon3:c.G337A:p.D113N,IKBKG:NM_001377315:exon3:c.G337A:p.D113N,IKBKG:NM_003639:exon3:c.G337A:p.D113N	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2	284	1211	26	1	0	28	0.0114286	.	.	.	79126	not_provided|Ectodermal_dysplasia_and_immunodeficiency_1|Immunodeficiency_33	MedGen:C3661900|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813|MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.189	0.224673559886	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs179363896	0.0086	0.0072	0.0130	0.0002	0.0098	0.0084	0.0083	0.0094	0.0093	0.0009	0.0027	0.0057	0	0.0175	0.0068	0.0098	0.0102	0.0065	0.0071	0.0069	0.0086	0.0003	0.0110	0.0067	0.0065	0.0102	0.0099	0.0018	0	0.0029	0.0069	0	0.0118	0.0057	0.0110	0.0070	0.0053	0.051	0.39334	T	0.1	0.66756	T	0.959	0.55135	D	0.501	0.47677	P	0.348836	0.13848	N	0.711988	0.99991	0.19781	N	1.245	0.31408	L	-1.65	0.95145	D	-1.33	0.36385	N	0.268	0.67304	0.204	0.85974	D	0.789	0.92861	D	10	0.006111324	0.00137	T	0.224674	0.87961	D	0.189	0.46613	0.188	0.09776	0.887711601573	0.88661	0.2985456713466058	0.29767	.	.	0.304108560085	0.11016	T	0.029732	0.70431	T	-0.467963	0.00875	T	-0.430693	0.29857	T	0.00792731663657177	0.00093	T	0.759324	0.40277	T	0.062621504	0.13099	0.12752393	0.30696	0.05325337	0.10051	0.15068215	0.35525	-5.747	0.44110	T	0.16878907404782587	0.21126	0.106	0.47848	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.886100	0.23959	16.22	0.99598339821547865	0.74042	0.28121	0.23466	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998316003727758	0.36741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4	4.4	0.52402	1.686000	0.37287	4.926000	0.46086	-0.749000	0.03603	0.071000	0.22100	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	11.865	0.51766	80	0.96670	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	61.23	9	chrX	154556314	.	G	A	61.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=39;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.39;SOR=0.368	GT:AD:DP:GQ:PL	0/1:5,3:8:71:71,0,135	5	0	1	0