Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES962	WT	HH	HZ	NC
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I,	.	YES	415	1086	21	0	0	21	0.00957592	.	.	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.969	D	0.000	D	1.000	D	2.35	M	-3.46	D	0.983	D	0.897	D	0.82	3.594	18.30	4.38	2.454	5.592	16.050	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	37	chr1	15445660	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=893;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.736;SOR=0.580	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1593,0,1145	20	0	1	0
chr1	25563142	25563142	C	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon6:c.C605A:p.S202Y,	Hypercholesterolemia, familial, autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	19815	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_4	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.885	P	0.252	N	0.000	A	2.005	M	0.34	T	-0.483	T	0.253	T	0.131	3.054	16.19	3.65	0.824	0.623	6.553	0.098	0.0801955060383	.	0.00159744	0.0012	0.0029	0.0026	0	0	0.0011	0.0034	0.0005	0.0010026	155	154602	rs121908326	0.0008	0.0008	0.0007	0.0008	0.0102	0.0007	0.0007	0.0082	0.0074	0.0030	0.0023	0.0031	0	0	0.0102	0.0005	0.0017	0.0006	0.0016	0.0017	0.0015	0.0018	0.0032	0.0015	0.0014	0.0027	0.0026	0.0032	0	0.0023	0.0014	0	0	0.0136	0.0009	0.0038	0.0015	0.01	0.56456	D	0.019	0.59159	D	0.974	0.57829	D	0.736	0.55529	P	0.251599	0.15498	N	0.673517	2.3949e-08	0.08975	A	2.105	0.58435	M	0.34	0.58176	T	-2.47	0.53898	N	0.36	0.40164	-0.4832	0.69252	T	0.253	0.62292	T	9	0.15271023	0.28839	T	0.080196	0.73407	D	0.098	0.28162	.	.	0.709925836417	0.70739	0.31660069560800125	0.31573	0.41760807969	0.42376	0.328747093678	0.14745	T	0.378373	0.74136	T	-0.494866	0.00611	T	-0.485407	0.23874	T	0.0185350502983893	0.00569	T	0.562644	0.19782	T	0.0788591	0.17983	0.08232798	0.18780	0.07735178	0.17550	0.09610253	0.22821	-6.873	0.53100	T	0.5453829937669651	0.61455	0.104	0.18869	B	.	.	2.329097	0.29836	18.25	0.98926678021605186	0.48657	0.07244	0.13268	N	AEFDBI	0.070493	0.13996	N	-0.123987220858582	0.36349	2.099917	-0.314463246413492	0.27632	1.53461	0.999994984250148	0.74766	0.646311	0.45356	0	0.71359	0.82159	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	0.592000	0.23685	1.138000	0.24381	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6771:0.1588:0.1641	6.553	0.21640	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	35	chr1	25563142	.	C	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=1350;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-2.260e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/1:28,55:83:99:1403,0,655	20	0	1	0
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N	Reticular dysgenesis, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.328	B	0.134	B	0.063	N	1.000	D	-0.265	N	-0.99	T	-0.701	T	0.151	T	0.173	1.260	10.11	4.43	1.575	2.910	10.866	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	723.98	33	chr1	33021406	.	C	T	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=743;ExcessHet=0.0000;FS=1.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-2.570e-01;SOR=0.461	GT:AD:DP:GQ:PL	0/1:27,25:52:99:738,0,771	20	0	1	0
chr1	42746620	42746620	G	A	UTR3	P3H1	NM_001243246:c.*292C>T;NM_022356:c.*77C>T;NM_001146289:c.*213C>T	.	.	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	4	1360	148	10	0	168	0.0581717	.	.	864417	Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive|not_provided	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0551118	.	.	.	.	.	.	.	.	0.0076778	1187	154602	rs13871	0.0436	0.0414	0.0433	0.0438	0.1156	0.0432	0.0431	0.1122	0.1107	0.1156	0.0412	0.0608	0.0006	0.0280	0.0708	0.0423	0.0477	0.0545	0.0588	0.0589	0.0597	0.0578	0.1060	0.0577	0.0573	0.1034	0.1023	0.1060	0.0844	0.0468	0.0605	0.0012	0.0308	0.0646	0.0408	0.0678	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1694.92	28	chr1	42746620	.	G	A	1694.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.14;DP=525;ExcessHet=0.6776;FS=1.017;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.394;SOR=0.900	GT:AD:DP:GQ:PL	0/1:5,13:18:99:411,0,133	17	0	4	0
chr1	42757818	42757818	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon5:c.G1045A:p.G349R	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1359	156	7	0	170	0.0588643	.	.	365182	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.89	M	-1.66	D	-0.536	T	0.067	T	0.492	4.366	23.0	5.84	2.769	7.487	17.643	0.551	.	0.0655	0.0549121	0.0448	0.1086	0.0364	0.0016	0.0281	0.0410	0.0419	0.0555	0.0444626	6874	154602	rs6700677	0.0430	0.0430	0.0427	0.0433	0.1150	0.0427	0.0426	0.1120	0.1107	0.1150	0.0399	0.0612	0.0007	0.0277	0.0758	0.0414	0.0471	0.0547	0.0586	0.0587	0.0595	0.0577	0.1058	0.0576	0.0572	0.1032	0.1022	0.1058	0.0846	0.0467	0.0605	0.0012	0.0310	0.0646	0.0407	0.0681	0.0557	0.002	0.72154	D	0.006	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-1.66	0.82715	D	-4.54	0.81030	D	0.469	0.50508	-0.5361	0.67311	T	0.067	0.27640	T	10	0.0021423697	0.00031	T	.	.	.	0.551	0.81427	0.309	0.28128	.	.	0.6843972499464513	0.68378	0.800589739096	0.66227	0.689329564571	0.65610	T	0.482556	0.81065	T	-0.221005	0.17857	T	-0.00338102	0.70117	D	0.0414313809427587	0.03951	T	0.870113	0.57479	D	0.57059675	0.71093	0.4587038	0.68551	0.6272012	0.74149	0.48363465	0.70106	-11.724	0.83687	D	0.7061372760979174	0.78576	0.255	0.67264	B	.;.;.	.;.;.	4.831024	0.78774	27.0	0.99938680313730954	0.99698	0.99073	0.90830	D	AEFDGBI	0.951807	0.96671	D	0.841087739919886	0.88593	9.637593	0.781041610301148	0.88444	9.584876	0.999999999999953	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	17.643	0.88045	507	0.75469	.;.;.	RP5-994D16.3|P3H1|CLDN19	Brain_Cerebellum|Cells_Cultured_fibroblasts|Nerve_Tibial	.	.	rs6700677	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.09524	6117.92	44	chr1	42757818	.	C	T	6117.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.259;DP=1192;ExcessHet=0.6776;FS=3.217;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.518;SOR=0.511	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1450,0,2003	17	0	4	0
chr1	42766833	42766833	C	A	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.G139T:p.A47S	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1410	108	4	0	116	0.0395095	.	.	365092	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_imperfecta|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.047	B	0.02	B	0.023	N	0.983	N	-0.05	N	1.22	T	-1.056	T	0.004	T	0.164	2.105	13.00	3.23	0.940	2.122	9.280	0.014	.	0.0423	0.0397364	0.0327	0.0842	0.0234	0.0018	0.0196	0.0294	0.0287	0.0465	0.030116	4656	154602	rs55716016	0.0318	0.0317	0.0315	0.0320	0.0836	0.0315	0.0314	0.0810	0.0799	0.0836	0.0234	0.0391	0.0008	0.0178	0.0411	0.0310	0.0319	0.0442	0.0414	0.0414	0.0421	0.0408	0.0757	0.0406	0.0402	0.0735	0.0726	0.0757	0.0844	0.0249	0.0389	0.0012	0.0210	0.0374	0.0296	0.0510	0.0439	0.387	0.11696	T	0.381	0.16086	T	0.047	0.21998	B	0.013	0.19048	B	0.022525	0.26616	N	0.389923	0.982945	0.24924	N	1.115	0.28702	L	1.22	0.37052	T	-0.34	0.13805	N	0.09	0.08227	-1.0561	0.12750	T	0.004	0.01261	T	10	0.0025526285	0.00039	T	.	.	.	0.014	0.01968	.	.	.	.	0.5244746260840524	0.52371	0.94384216601	0.72326	0.834239780903	0.87213	D	0.063977	0.32315	T	-0.571166	0.00218	T	-0.534036	0.18886	T	0.019137867165652	0.00621	T	0.570643	0.28992	T	0.052076228	0.09659	0.07407858	0.16166	0.066501446	0.14315	0.11549822	0.27881	-4.743	0.33920	T	0.09429628071394193	0.06295	0.077	0.06433	B	.;.;.;.	.;.;.;.	2.450515	0.31553	18.78	0.9420826326093541	0.24448	0.18604	0.20328	N	ALL	0.127930	0.24549	N	-0.485070535527865	0.22570	1.206057	-0.311555900562568	0.27725	1.540484	0.999999999999537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	3.23	0.36150	0.206000	0.17174	2.498000	0.33015	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.891000	0.42908	0.2134:0.7866:0.0:0.0	9.280	0.36881	507	0.75469	.;.;.;.	RP5-994D16.3|RP5-994D16.3|CLDN19|P3H1	Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Testis	.	.	rs55716016	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	0.09524	11418.92	40	chr1	42766833	.	C	A	11418.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.51;DP=1584;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.367;SOR=0.703	GT:AD:DP:GQ:PL	0/1:109,101:210:99:2632,0,2617	17	0	4	0
chr1	55052420	55052420	G	A	intronic	PCSK9	.	.	.	Hypercholesterolemia, familial, 3	.	2	1308	202	10	0	222	0.0782241	.	.	249986	Hypercholesterolemia,_autosomal_dominant,_3|not_specified|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Hypobetalipoproteinemia|Familial_hypercholesterolemia	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0457	0.0391374	0.0424	0.0404	0.0280	0.0311	0.0208	0.0476	0.0474	0.0471	0.0415907	6430	154602	rs11800243	0.0427	0.0427	0.0426	0.0429	0.1242	0.0425	0.0423	0.1167	0.1137	0.0413	0.0294	0.0973	0.0263	0.0236	0.1242	0.0428	0.0472	0.0439	0.0403	0.0404	0.0420	0.0386	0.0449	0.0395	0.0391	0.0411	0.0406	0.0394	0.0439	0.0355	0.0931	0.0298	0.0173	0.1531	0.0424	0.0550	0.0449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13334.03	87	chr1	55052420	.	G	A	13334.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.67;DP=1889;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.941;SOR=0.672	GT:AD:DP:GQ:PL	0/1:67,73:140:99:2080,0,1609	15	0	6	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q,	Hypercholesterolemia, familial, 3	.	1	0	1	1520	0	3041	1	.	.	249989	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,198:198:99:6218,594,0	0	21	0	0
chr1	55063527	55063527	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon12:c.C2022T:p.A674A,	Hypercholesterolemia, familial, 3	.	0	1520	2	0	0	2	0.000657462	.	.	282667	Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|Cardiovascular_phenotype|Hypobetalipoproteinemia|not_provided	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.534e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs886046436	2.532e-05	2.531e-05	2.179e-05	2.889e-05	0.0021	1.868e-05	1.631e-05	0.0012	0.0010	0	8.945e-05	0	0	1.876e-05	0.0021	5.397e-06	0.0001	6.959e-05	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0001	2.555e-05	1.829e-05	2.257e-05	9.06e-06	4.809e-05	0	0.0001	0	0	0	0.0068	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0.02381	1338.98	119	chr1	55063527	.	C	T	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.62;DP=1375;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.680e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1353,0,1500	20	0	1	0
chr1	55064735	55064735	A	-	UTR3	PCSK9	NM_174936:c.*1151delA	.	.	Hypercholesterolemia, familial, 3	.	3	221	2	0	0	2	0.0045045	.	.	281482	Hypercholesterolemia,_familial,_1|Familial_hypobetalipoproteinemia|not_provided	MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C1862596,Orphanet:426|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.000461	12	26028	rs563024336	0	4.612e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	0.0005	0.0005	0.0005	0.0006	0.0025	0.0004	0.0004	0.0014	0.0011	0.0001	0.0011	0.0003	0.0012	0.0002	0	0	0.0007	0.0009	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2886.94	35	chr1	55064734	.	CA	C	2886.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.445;SOR=0.715	GT:AD:DP:GQ:PL	0/1:113,87:200:99:2901,0,3944	20	0	1	0
chr1	75761267	75761267	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon8:c.T524C:p.I175T	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	98164	Inborn_genetic_diseases|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.011	B	0.305	B	0.000	D	1.000	D	-1.62	N	-3.81	D	-0.409	T	0.391	T	0.769	1.404	10.63	5.3	2.127	3.770	14.384	0.581	0.0754163328048	0.0004	.	0.0004	0	8.637e-05	0	0	0.0005	0	0.0012	0.0003622	56	154602	rs150710061	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	0.0002	0.0002	0.0012	0.0002	0	0.0026	0.0004	0.0005	0.0014	0.0003	0.0003	0.0003	0.0004	0.0005	0.0003	0.0002	0.0004	0.0003	9.646e-05	0	0.0002	0.0020	0.0002	0	0	0.0005	0.0005	0.0002	0.746	0.05002	T	0.631	0.07842	T	0.011	0.15914	B	0.021	0.41207	B	0.000000	0.84330	D	0.048394	0.999999	0.58761	D	-0.21	0.04010	N	-3.81	0.95728	D	-2.42	0.53096	N	0.367	0.46368	-0.4086	0.71755	T	0.391	0.74503	T	10	0.081932575	0.13467	T	0.075416	0.72282	D	0.581	0.83137	.	.	0.919890219729	0.91908	0.9337390151556569	0.93352	0.253000470629	0.27868	0.459393918514	0.33227	T	0.606579	0.94710	D	-0.0116757	0.50031	T	0.169919	0.81404	D	0.0464885197579861	0.04873	T	0.89581	0.63970	D	0.4626909	0.64838	0.2550065	0.51175	0.4657476	0.65029	0.2812008	0.54099	-4.405	0.29840	T	0.09664777496424153	0.06712	0.120	0.26855	B	.;.;.;.	.;.;.;.	3.018466	0.40391	21.2	0.86618063593244676	0.16657	0.93533	0.58476	D	AEFBI	0.738786	0.68355	D	-0.51731984107653	0.21519	1.142655	-0.21079234081159	0.31146	1.760027	0.993409396813185	0.33202	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	3.734000	0.54760	1.914000	0.29665	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.995000	0.73285	0.0:0.0:0.0:1.0	14.384	0.66500	784	0.47045	Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2542.11	34	chr1	75761267	.	T	C	2542.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.410e-01;DP=864;ExcessHet=0.1072;FS=3.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.545;SOR=0.804	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1334,0,1474	19	0	2	0
chr1	94047009	94047009	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon19:c.G2828A:p.R943Q,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	1	1419	101	1	0	103	0.0350221	.	.	22952	not_specified|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|Cone-Rod_Dystrophy,_Recessive|not_provided|Macular_degeneration|Severe_early-childhood-onset_retinal_dystrophy|Stargardt_disease_3|Retinal_dystrophy|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	MedGen:CN169374|MedGen:CN239167|MedGen:CN239312|MedGen:CN239466|MedGen:CN239309|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.519	P	0.163	B	0.003	N	1.000	N	0.855	L	-2.81	D	-0.481	T	0.429	T	0.366	1.513	11.01	3.54	1.294	1.065	7.555	0.350	.	0.0320	0.0153754	0.0307	0.0103	0.0090	0.0001	0.0296	0.0392	0.0264	0.0412	0.0309634	4787	154602	rs1801581	0.0418	0.0418	0.0420	0.0416	0.0466	0.0415	0.0414	0.0463	0.0462	0.0109	0.0121	0.0200	0.0002	0.0338	0.0257	0.0466	0.0367	0.0419	0.0291	0.0291	0.0297	0.0285	0.0433	0.0284	0.0281	0.0420	0.0414	0.0118	0.0319	0.0202	0.0202	0.0002	0.0298	0.0102	0.0433	0.0298	0.0426	0.289	0.15047	T	0.147	0.32783	T	0.01	0.15535	B	0.012	0.16012	B	0.002764	0.35968	N	0.312543	0.999548	0.29096	N	1.255	0.31814	L	-3.26	0.93587	D	-1.0	0.26422	N	0.151	0.15469	-0.4814	0.69316	T	0.429	0.77140	T	10	0.0059529543	0.00133	T	.	.	.	0.350	0.67142	.	.	.	.	0.7473004985417439	0.74676	0.180361813114	0.20290	0.298317670822	0.10151	T	0.38172	0.74397	T	-0.276011	0.11095	T	-0.135666	0.60492	T	0.00893240131870439	0.00111	T	0.840516	0.67676	T	0.074793965	0.16809	0.061922938	0.12034	0.061877728	0.12862	0.06307743	0.12441	-5.223	0.39175	T	.	.	0.089	0.18331	B	.;.	.;.	3.296208	0.45225	22.1	0.99465640862062799	0.66049	0.50826	0.28753	D	AEFDBI	0.085880	0.17411	N	-0.275561676489048	0.30094	1.674915	-0.173637525283727	0.32509	1.850269	0.999987097491109	0.51787	0.538715	0.22204	0	0.59043	0.45803	0	0.547309	0.15389	0	0.563494	0.21769	0	.	.	5.62	3.54	0.39650	1.075000	0.30328	3.310000	0.37456	0.599000	0.40250	0.914000	0.31788	1.000000	0.68203	0.362000	0.25931	0.0:0.6477:0.0:0.3523	7.555	0.26984	597	0.68309	ABC transporter-like;.	.	.	.	.	rs1801581	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1337.98	33	chr1	94047009	.	C	T	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.152e+00;DP=780;ExcessHet=0.0000;FS=3.839;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.704;SOR=1.096	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1352,0,995	20	0	1	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,26,0:62:99:.:.:544,0,1637,734,1333,2105	7	1	8	0
chr1	102987714	102987714	T	A	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon28:c.A2073T:p.R691S	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	1	1505	14	2	0	18	0.00594452	.	.	1192668	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.985	D	0.000	D	1.000	D	0.455	N	-3.24	D	0.284	D	0.655	D	0.753	2.933	15.77	2.07	0.320	0.400	7.835	0.334	0.25784655461	7.7e-05	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs367824632	0.0001	0.0001	9.804e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0001	0	0	0	0.0021	4.677e-05	0.0004	0.0012	9.856e-05	9.843e-05	3.856e-05	0.0002	0.0010	6.007e-05	4.88e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0.0068	4.412e-05	0	0.0010	0.018	0.54683	D	0.048	0.49120	D	0.981	0.62824	D	0.966	0.76457	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.55	0.39271	L	-3.38	0.94161	D	-5.29	0.85247	D	0.729	0.73015	0.284	0.87307	D	0.655	0.87989	D	10	0.47946686	0.60343	T	0.257847	0.89385	D	0.701	0.89238	0.362	0.36711	0.953937375394	0.95344	0.6228879467726383	0.62221	0.132844441926	0.14965	0.650581121445	0.60068	T	0.77664	0.94066	D	-0.0362331	0.46506	T	0.134644	0.79196	D	0.238656729757201	0.22357	T	0.884712	0.62852	D	0.7395772	0.80268	0.5487358	0.73910	0.7395772	0.80269	0.5487358	0.73911	-11.089	0.82507	D	0.4499784665851495	0.53396	0.880	0.81464	P	.;.;.;.	.;.;.;.	3.853628	0.55844	23.7	0.99699287724562247	0.80522	0.76850	0.37725	D	AEFI	0.238912	0.36095	N	0.040174624420964	0.43691	2.657167	-0.00748090400738627	0.39375	2.333729	1.4249757725328E-5	0.02871	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.4	2.07	0.26004	0.127000	0.15617	2.289000	0.31947	0.609000	0.47794	0.988000	0.36536	1.000000	0.68203	0.976000	0.56436	0.0:0.2124:0.0:0.7876	7.835	0.28525	855	0.34697	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	36	chr1	102987714	.	T	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e+00;DP=821;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=1.26;SOR=0.997	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1523,0,1447	20	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/3:26,0,3,29,0:58:99:1049,1141,1924,1071,1649,1583,0,847,506,969,1141,1924,1649,847,1924	0	0	10	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:52,5,11,0:68:99:.:.:315,177,1923,0,1692,1782,390,1971,1810,2166	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:52,5,11,0:68:99:.:.:315,177,1923,0,1692,1782,390,1971,1810,2166	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:52,5,11,0:68:99:.:.:315,177,1923,0,1692,1782,390,1971,1810,2166	3	0	13	0
chr1	179557079	179557079	C	T	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_014625:exon5:c.G686A:p.R229Q,	Nephrotic syndrome, type 2, Autosomal recessive	YES	1	1447	71	3	0	77	0.0259172	.	.	20409	not_specified|Focal_segmental_glomerulosclerosis|not_provided|Inborn_genetic_diseases|Nephrotic_syndrome,_type_2,_susceptibility_to|Nephrotic_syndrome,_type_2|Nephrotic_syndrome|NPHS2-related_disorder|Proteinuria	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|.|Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.903	P	0.313	B	0.000	D	1.000	D	1.355	L	-3.57	D	0.010	D	0.348	T	0.645	4.075	21.0	5.93	2.826	2.410	18.918	0.580	.	0.0274	0.0145767	0.0296	0.0074	0.0087	0.0002	0.0658	0.0375	0.0246	0.0273	0.0290229	4487	154602	rs61747728	0.0355	0.0355	0.0354	0.0356	0.0376	0.0353	0.0352	0.0373	0.0372	0.0057	0.0140	0.0485	7.559e-05	0.0661	0.0170	0.0376	0.0331	0.0280	0.0277	0.0277	0.0271	0.0284	0.0374	0.0270	0.0267	0.0362	0.0357	0.0061	0.0658	0.0186	0.0565	0.0004	0.0664	0.0034	0.0374	0.0199	0.0282	0.21	0.19639	T	0.179	0.29540	T	0.903	0.49795	P	0.313	0.41496	B	0.000015	0.62929	D	0.070347	0.999998	0.81001	D	1.68	0.43186	L	-3.57	0.94904	D	-2.1	0.47852	N	0.11	0.09631	0.010	0.82461	D	0.348	0.71257	T	10	0.00867492	0.00196	T	.	.	.	0.580	0.83081	.	.	.	.	0.6645189682641829	0.66388	0.805380534221	0.66431	0.368850588799	0.20667	T	0.710983	0.91756	D	-0.148293	0.28579	T	0.0427785	0.73110	D	0.0303930250691861	0.02050	T	0.885211	0.61002	D	0.41818437	0.61971	0.33342767	0.59180	0.38918266	0.59974	0.2819649	0.54181	-7.559	0.58024	D	0.3024639792626065	0.39990	0.113	0.22208	B	.	.	3.991594	0.58755	24.0	0.99923653484275776	0.98917	0.79160	0.39174	D	AEFBI	0.302058	0.41041	N	0.400990723799176	0.61479	4.349355	0.493996566170717	0.67591	5.104625	0.282388409204083	0.19001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	2.460000	0.44689	4.818000	0.45095	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.918	0.92484	549	0.72275	Band 7 domain|Band 7 domain	RALGPS2|AXDND1|RP11-545A16.1|AXDND1|FAM163A|RP11-12M5.3	Artery_Tibial|Colon_Transverse|Colon_Transverse|Thyroid|Thyroid|Thyroid	.	.	rs61747728	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3795.11	36	chr1	179557079	.	C	T	3795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.858;DP=977;ExcessHet=0.1072;FS=0.426;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.730;SOR=0.649	GT:AD:DP:GQ:PL	0/1:86,81:167:99:1994,0,2032	19	0	2	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2276,231,0	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;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	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2395,0,1813	2	8	11	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	2	810	709	1	0	711	0.305019	0	0.028	865078	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_specified|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_provided	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:CN169374|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN071292|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	17455.3	34	chr1	196743447	.	T	C	17455.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.46;DP=3012;ExcessHet=7.7275;FS=8.647;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=57.29;MQRankSum=-1.539e+01;QD=6.59;ReadPosRankSum=-2.514e+00;SOR=1.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,53:264:99:0|1:196743447_T_C:1584,0,8627:196743447	10	0	11	0
chr1	210094549	210094551	GAA	-	exonic	SYT14	.	nonframeshift deletion	SYT14:NM_001146262:exon5:c.670_672del:p.E225del	Spinocerebellar ataxia, autosomal recessive 11, Autosomal recessive	.	0	1200	287	35	0	357	0.129489	.	.	206755	not_provided|not_specified|Autosomal_recessive_spinocerebellar_ataxia_11	MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.0796725	0.1181	0.0239	0.0504	0.0786	0.2129	0.1395	0.1186	0.1194	0.0182112	474	26028	rs1188666462	0.1323	0.1324	0.1321	0.1326	0.1391	0.1319	0.1316	0.1385	0.1382	0.0202	0.0601	0.0707	0.1022	0.2138	0.0961	0.1391	0.1184	0.1212	0.1023	0.1027	0.0981	0.1068	0.1369	0.1010	0.1004	0.1346	0.1336	0.0247	0.1685	0.0763	0.0714	0.0866	0.2251	0.0952	0.1369	0.0900	0.1295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7529.62	36	chr1	210094548	.	TGAA	T	7529.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.210e-01;DP=925;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=1.09;SOR=0.904	GT:AD:DP:GQ:PL	1/1:0,117:117:99:5245,353,0	19	1	1	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	.	1218	248	11	45	0	101	0.169179	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	964.46	1	chr1	212897349	.	T	TACAC	964.46	.	AC=14;AF=0.389;AN=36;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6133;MLEAC=15;MLEAF=0.417;MQ=60.00;QD=27.57;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,1:1:3:45,3,0	11	7	0	3
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	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	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3700,339,0	0	21	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A,	.	YES	424	234	529	335	0	1199	0.719256	.	.	1704219	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.983	N	1.000	P	-0.695	N	2.07	T	-0.944	T	0.000	T	0.028	-1.112	0.132	1.01	-0.121	0.079	3.041	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	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	1	0	0	0	0.5714	30384.06	73	chr1	226736237	.	A	C	30384.06	.	AC=24;AF=0.571;AN=42;BaseQRankSum=2.65;DP=1720;ExcessHet=0.2438;FS=1.233;InbreedingCoeff=0.2222;MLEAC=24;MLEAF=0.571;MQ=60.00;MQRankSum=0.00;QD=23.70;ReadPosRankSum=0.128;SOR=0.798	GT:AD:DP:GQ:PL	0/1:46,25:71:99:688,0,1276	5	8	8	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del,	.	.	422	529	453	118	0	689	0.39439	.	.	1704216	Myeloproliferative_neoplasm,_unclassifiable	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	18319.76	45	chr1	226737174	.	ACTGCCGCTG	A	18319.76	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.080e-01;DP=1102;ExcessHet=0.0958;FS=0.000;InbreedingCoeff=0.3082;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=29.41;ReadPosRankSum=0.447;SOR=0.673	GT:AD:DP:GQ:PL	0/1:24,25:49:99:979,0,911	9	5	7	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:43,9,7:64:96:96,0,967,113,775,1125	6	1	13	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	2/2:1,0,19:20:33:476,479,502,33,57,0	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	0/4:13,0,0,0,7,0,0:20:99:253,294,841,294,841,841,294,841,841,841,0,547,547,547,526,294,841,841,841,547,841,294,841,841,841,547,841,841	0	0	1	1
chr2	20012500	20012500	G	A	exonic	MATN3	.	synonymous SNV	MATN3:NM_002381:exon1:c.C132T:p.P44P,	Epiphyseal dysplasia, multiple, 5, Autosomal dominant;Spondyloepimetaphyseal dysplasia, Autosomal recessive	.	410	1110	2	0	0	2	0.00090009	.	.	271962	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886043710	9.29e-06	1.779e-05	1.233e-05	5.898e-06	0.0003	4.7e-06	3.42e-06	3.75e-06	2.71e-06	4.405e-05	0	0	0	0	0.0003	8.714e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	153.98	18	chr2	20012500	.	G	A	153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=385;ExcessHet=0.0000;FS=5.880;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-1.920e-01;SOR=2.546	GT:AD:DP:GQ:PL	0/1:9,5:14:99:168,0,278	20	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	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	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5495,498,0	0	14	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/2:47,2,25:74:99:379,461,1829,0,965,808	0	0	1	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:31,29,0,0:60:99:589,0,639,682,726,1408,682,726,1408,1408	1	5	12	0
chr2	71535283	71535283	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon15:c.G1372A:p.E458K	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	1	1448	72	1	0	74	0.0249158	.	.	100170	Qualitative_or_quantitative_defects_of_dysferlin|not_specified|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.997	D	0.891	P	0.000	D	1.000	D	1.23	L	-0.38	T	-0.622	T	0.209	T	0.332	5.102	31	4.84	2.640	8.502	16.247	0.405	.	0.0175	0.0081869	0.0170	0.0038	0.0066	0.0001	0.0236	0.0248	0.0188	0.0072	0.0171796	2656	154602	rs61740288	0.0202	0.0202	0.0204	0.0200	0.0225	0.0200	0.0199	0.0223	0.0222	0.0032	0.0099	0.0294	0.0006	0.0237	0.0193	0.0225	0.0189	0.0075	0.0171	0.0172	0.0173	0.0170	0.0244	0.0166	0.0164	0.0234	0.0230	0.0045	0.0110	0.0146	0.0337	0.0004	0.0314	0.0374	0.0244	0.0184	0.0066	0.003	0.72154	D	0.03	0.54541	D	0.995	0.70673	D	0.891	0.63213	P	0.000006	0.62929	D	0.061993	0.999637	0.49076	D	1.365	0.34158	L	-0.38	0.69027	T	-3.13	0.64939	D	0.429	0.51048	-0.6215	0.63927	T	0.209	0.56866	T	10	0.009779274	0.00220	T	.	.	.	0.405	0.71791	.	.	.	.	0.7232123289978353	0.72265	0.58032541482	0.53883	0.580330967903	0.50132	T	0.68657	0.90848	D	-0.316855	0.07159	T	-0.209663	0.53728	T	0.0303155221455531	0.02038	T	0.973303	0.90409	D	0.7433611	0.80485	0.7120498	0.83011	0.7343268	0.79970	0.6880868	0.81653	-9.708	0.75111	D	0.5468734899576866	0.61589	0.560	0.71018	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.917915	0.80978	27.4	0.99908996430720098	0.97875	0.98652	0.85163	D	AEFBI	0.906332	0.85898	D	0.61096487656115	0.73865	6.036811	0.643205386196384	0.78107	6.809933	0.9999999999953	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	8.908000	0.92231	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.247	0.82271	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	CYP26B1	Adipose_Visceral_Omentum	.	.	.	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	0.04762	6359.11	39	chr2	71535283	.	G	A	6359.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.140e-01;DP=1355;ExcessHet=0.1072;FS=3.221;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-4.410e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:162,128:290:99:2991,0,3962	19	0	2	0
chr2	86216945	86216945	A	G	UTR3	REEP1	NM_022912:c.*155T>C;NM_001164732:c.*94T>C;NM_001164731:c.*155T>C;NM_001164730:c.*155T>C;NM_001371280:c.*94T>C;NM_001371279:c.*94T>C	.	.	Spastic paraplegia 31, autosomal dominant, Autosomal dominant	.	1	1495	25	1	0	27	0.00894929	.	.	287508	not_provided|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_31	MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0012453,MedGen:C1853247,OMIM:610250,Orphanet:101011	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071885	.	.	.	.	.	.	.	.	0.004683	724	154602	rs141976852	0.0278	0.0287	0.0287	0.0270	0.0347	0.0275	0.0274	0.0343	0.0341	0.0058	0.0118	0.0122	2.86e-05	0.0357	0.0095	0.0347	0.0230	0.0023	0.0218	0.0218	0.0224	0.0212	0.0336	0.0212	0.0209	0.0325	0.0320	0.0059	0.0855	0.0161	0.0138	0.0002	0.0332	0.0034	0.0336	0.0204	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	698.98	34	chr2	86216945	.	A	G	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.518e+00;DP=751;ExcessHet=0.0000;FS=1.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-8.410e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/1:28,30:58:99:713,0,744	20	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	.	910	207	66	339	0	744	0.642487	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,5:5:15:202,15,0	3	11	4	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1089	122	46	265	0	576	0.702439	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	904.29	3	chr2	113062953	.	A	G	904.29	.	AC=17;AF=0.773;AN=22;BaseQRankSum=-9.670e-01;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3944;MLEAC=24;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=26.02;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0	2	8	1	10
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	268544	NEB-related_disorder|Nemaline_myopathy_2|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.741	P	0.353	B	0.000	U	1.000	N	0.59	N	4.19	T	-1.031	T	0.083	T	0.245	3.714	18.86	5.09	0.872	4.337	11.822	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1073.98	34	chr2	151494220	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=816;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.613;SOR=0.515	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1088,0,1319	20	0	1	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	0/1:32,35,0:71:99:766,0,678,847,849,1789	5	0	3	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1402.97	160	chr2	178535858	.	GA	G	1402.97	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.350e-01;DP=3018;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.4826;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.092;SOR=0.674	GT:AD:DP:GQ:PL	0/1:120,24:157:99:170,0,2661	7	0	14	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	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	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:11,5,3,0:19:56:148,0,333,56,276,509,174,373,484,578	1	0	14	0
chr2	178663311	178663311	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon173:c.T36655G:p.L12219V,	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	.	73	1266	106	77	0	260	0.0931232	.	.	221130	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-0.980	T	0.032	T	0.032	-0.241	2.839	-4.3	-1.491	-7.146	4.794	0.016	.	.	.	0.0150	0.0175	0.0142	0.0246	0.0064	0.0084	0.0161	0.0471	0.0001153	3	26028	rs12994774	0.1053	0.1441	0.0997	0.1110	0.4941	0.1048	0.1046	0.4879	0.4853	0.1766	0.1914	0.1555	0.4941	0.1269	0.1625	0.0697	0.1437	0.2890	0.1768	0.2604	0.1773	0.1762	0.4475	0.1748	0.1739	0.4281	0.4203	0.2099	0.4255	0.2226	0.1839	0.4475	0.1409	0.2125	0.1303	0.1755	0.3076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.1	0.61326	T	.	.	.	0.026	0.00527	-0.9795	0.35117	T	0.032	0.13548	T	6	0.0017544031	0.00022	T	.	.	.	.	.	.	.	.	.	.	.	0.0842442114282	0.09510	.	.	.	.	.	.	-0.363034	0.03962	T	-0.75925	0.03139	T	0.000459135104007003	0.00004	T	0.0683932	0.00498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.212283	0.00518	0.012	0.6304760633085309	0.07121	0.00290	0.01555	N	AEFBI	0.049581	0.08580	N	-2.27256405002745	0.00053	0.002253834	-2.33442631479677	0.00056	0.002438733	0.00319315519440736	0.09983	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.22	-4.3	0.03454	-4.205000	0.00312	.	.	-2.188000	0.00360	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3266:0.2877:0.0:0.3857	4.794	0.12634	426	0.81110	.	.	.	.	.	.	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	0.1	393.34	41	chr2	178663311	.	A	C	393.34	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.65;DP=931;ExcessHet=0.0090;FS=46.223;InbreedingCoeff=0.4690;MLEAC=4;MLEAF=0.100;MQ=40.02;MQRankSum=-1.622e+00;QD=2.49;ReadPosRankSum=1.62;SOR=5.631	GT:AD:DP:GQ:PL	1/1:0,8:8:24:307,24,0	17	1	2	1
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Hereditary_cancer-predisposing_syndrome|Breast_neoplasm|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	1431.23	10	chr2	214792458	.	TAA	TA,T	1431.23	.	AC=8,6;AF=0.250,0.188;AN=32;BaseQRankSum=0.718;DP=282;ExcessHet=0.8727;FS=0.762;InbreedingCoeff=-0.1143;MLEAC=10,6;MLEAF=0.313,0.188;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:1,2,0:3:16:26,0,16,29,22,51	5	1	6	5
chr2	222221236	222221236	G	T	exonic	PAX3	.	nonsynonymous SNV	PAX3:NM_001127366:exon6:c.C941A:p.T314K	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	2	1456	62	2	0	66	0.0221625	.	.	215772	not_specified|not_provided|Waardenburg_syndrome_type_1|Craniofacial-deafness-hand_syndrome|Waardenburg_syndrome|Congenital_diaphragmatic_hernia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.837	P	0.559	P	0.000	D	1.000	D	1.59	L	-3.37	D	0.072	D	0.491	T	0.549	4.087	21.0	6.06	2.882	9.414	20.621	0.396	.	0.0278	0.0131789	0.0266	0.0065	0.0143	0	0.0369	0.0362	0.0297	0.0193	0.0257888	3987	154602	rs2234675	0.0367	0.0368	0.0370	0.0365	0.0418	0.0365	0.0364	0.0415	0.0413	0.0055	0.0143	0.0223	2.519e-05	0.0381	0.0161	0.0418	0.0317	0.0205	0.0253	0.0254	0.0260	0.0246	0.0402	0.0246	0.0244	0.0390	0.0385	0.0065	0.0318	0.0133	0.0248	0.0002	0.0371	0.0170	0.0402	0.0199	0.0178	0.008	0.58626	D	0.172	0.38450	T	0.837	0.46346	P	0.559	0.49531	P	0.000003	0.62929	D	0.103312	0.999995	0.58761	D	1.83	0.48079	L	-3.38	0.94260	D	-2.61	0.56144	D	0.274	0.55453	0.072	0.83665	D	0.491	0.80688	T	10	0.005897939	0.00132	T	.	.	.	0.396	0.71084	.	.	.	.	0.48715641716572666	0.48635	0.790193635219	0.65741	0.597164154053	0.52505	T	0.596076	0.86986	D	-0.15255	0.27912	T	0.0424034	0.73084	D	0.031317736279888	0.02196	T	0.951205	0.81406	D	0.2982129	0.52744	0.5293505	0.72806	0.3795597	0.59285	0.5293505	0.72807	-7.793	0.68051	D	0.2321689578727162	0.31422	0.678	0.72054	P	.;.;.;.;.;.	.;.;.;.;.;.	4.958886	0.81980	27.7	0.98888459625850189	0.47966	0.99067	0.90742	D	AEFBI	0.957363	0.97650	D	0.519257826346794	0.68229	5.188516	0.640730610094269	0.77921	6.773582	0.999999999923246	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.06	6.06	0.98340	9.602000	0.97623	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.621	0.99492	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	775.98	36	chr2	222221236	.	G	T	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.389e+00;DP=770;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-2.552e+00;SOR=0.408	GT:AD:DP:GQ:PL	0/1:37,32:69:99:790,0,1045	20	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1397,0,1937	4	4	13	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	1/1:0,20:20:60:750,60,0	8	3	10	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	67	130	17	12	0	41	0.136213	.	.	293472	not_provided|Congenital_Myasthenic_Syndrome,_Recessive	MedGen:C3661900|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3088.27	26	chr3	15521729	.	T	TTG	3088.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.062;DP=734;ExcessHet=7.7275;FS=1.087;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.115;SOR=0.769	GT:AD:DP:GQ:PL	0/1:16,12:28:99:347,0,513	10	0	11	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	1/2:0,13,2:15:45:880,110,45,570,0,538	5	3	12	0
chr3	87276436	87276436	A	G	exonic	POU1F1	.	synonymous SNV	POU1F1:NM_000306:exon1:c.T27C:p.A9A	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	0	1509	12	1	0	14	0.00461741	.	.	889739	POU1F1-related_disorder|Pituitary_hormone_deficiency,_combined,_1|not_provided	.|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	9.669e-05	0.0005	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs35560664	0.0002	0.0002	0.0002	0.0002	0.0104	0.0002	0.0002	0.0083	0.0075	0.0004	0.0005	0	0	0	0.0104	0.0001	0.0003	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	4.81e-05	0	0.0010	0	0	0	0.0068	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	726.98	35	chr3	87276436	.	A	G	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-1.184e+00;SOR=0.659	GT:AD:DP:GQ:PL	0/1:43,31:74:99:741,0,1168	20	0	1	0
chr3	142560393	142560393	C	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001184:exon6:c.G1411C:p.E471Q,	Seckel syndrome 1, Autosomal recessive	.	6	1492	23	1	0	25	0.00830841	.	.	781576	Malignant_tumor_of_breast|ATR-related_disorder|Seckel_syndrome_1|not_provided	MONDO:MONDO:0007254,MedGen:C0006142|.|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.966	D	0.462	P	0.001	D	1.000	D	0.895	L	3.89	T	-0.948	T	0.013	T	0.222	3.676	18.68	5.71	2.694	2.705	14.666	0.069	0.00418965340868	0.0002	0.000399361	0.0003	9.615e-05	0.0002	0.0001	0	0.0002	0	0.0016	0.0002911	45	154602	rs371350410	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0001	3.828e-05	0	0	0.0047	7.555e-05	0.0003	0.0019	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.815e-05	0	0.0003	0	0	0	0	0.0001	0.0009	0.0021	0.04	0.42199	D	0.252	0.23570	T	0.966	0.56202	D	0.462	0.46509	P	0.000542	0.43413	D	0.194598	0.890296	0.81001	D	1.935	0.51832	L	3.89	0.03544	T	-0.4	0.13805	N	0.248	0.28028	-0.9477	0.41364	T	0.013	0.05321	T	10	0.020540774	0.00475	T	0.00419	0.10089	T	0.069	0.20116	.	.	0.481513848221	0.47781	0.1754174062515484	0.17460	0.258986536561	0.28452	0.32993337512	0.14924	T	0.067634	0.33252	T	-0.508172	0.00514	T	-0.509515	0.21366	T	0.0289342957624609	0.01827	T	0.781822	0.41691	T	0.17641845	0.38553	0.060204253	0.11427	0.1776186	0.38737	0.08973996	0.21003	-4.032	0.24281	T	.	.	0.103	0.18580	B	.	.	3.916840	0.57157	23.8	0.99569225907474168	0.72258	0.93136	0.57420	D	AEFBI	0.388594	0.46814	N	0.399765759058681	0.61409	4.341674	0.483359412086924	0.66890	5.01099	0.997645339739618	0.35855	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	3.349000	0.51931	7.704000	0.66446	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1453:0.8547:0.0:0.0	14.666	0.68517	636	0.64483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1469.98	34	chr3	142560393	.	C	G	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e-01;DP=822;ExcessHet=0.0000;FS=4.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.690e-01;SOR=1.099	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1484,0,1387	20	0	1	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:243,6,20,51,67:417:46:3293,3001,11352,1388,10390,11596,0,8944,10089,10269,46,8838,9808,9352,10378	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:243,6,20,51,67:417:46:3293,3001,11352,1388,10390,11596,0,8944,10089,10269,46,8838,9808,9352,10378	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:243,6,20,51,67:417:46:3293,3001,11352,1388,10390,11596,0,8944,10089,10269,46,8838,9808,9352,10378	5	0	0	0
chr3	150927632	150927635	ACAC	-	UTR3	CLRN1	NM_001195794:c.*304_*301delGTGT;NM_001256819:c.*617_*614delGTGT;NM_174878:c.*304_*301delGTGT	.	.	Retinitis pigmentosa 61;Usher syndrome, type 3A, Autosomal recessive	.	1382	105	6	16	13	51	0.153226	.	.	293404	not_provided|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa,_Dominant	MedGen:C3661900|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004|MedGen:CN239354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1208	0.1613	0.1932	0.3923	.	0.1219	0.1667	0.1120	0.0015368	40	26028	rs143330998	0.1210	0.1126	0.1259	0.1171	0.2769	0.1199	0.1195	0.2692	0.2661	0.1447	0.1680	0.0889	0.2769	0.1361	0.1092	0.1103	0.1287	0.0912	0.1005	0.1011	0.0968	0.1043	0.2730	0.0991	0.0986	0.2611	0.2563	0.1160	0.0615	0.1289	0.0679	0.2730	0.1213	0.1042	0.0730	0.0968	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	720.63	2	chr3	150927631	.	TACAC	TAC,T	720.63	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=0.861;DP=108;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=0.5124;MLEAC=8,4;MLEAF=0.333,0.167;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.033;SOR=1.142	GT:AD:DP:GQ:PL	1/1:0,4,0:4:12:133,12,0,133,12,133	7	3	0	9
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T,	Apnea, postanesthetic (3)	YES	44	964	416	98	0	612	0.240945	.	.	28259	Deficiency_of_butyrylcholinesterase|Butyrylcholinesterase_activity|not_specified|not_provided	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.012	B	0.019	N	0.933	P	1.895	L	-0.18	T	-1.017	T	0.001	T	0.246	2.970	15.90	4.14	1.206	4.872	11.972	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	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	0.3095	13452.11	33	chr3	165773492	.	C	T	13452.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-4.230e-01;DP=1260;ExcessHet=1.3217;FS=1.851;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.656;SOR=0.824	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2279,225,0	10	2	9	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F	Fanconi-Bickel syndrome, Autosomal recessive	.	2	712	648	160	0	968	0.404682	.	.	135795	not_specified|not_provided|Type_2_diabetes_mellitus|Fanconi-Bickel_syndrome	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.3333	22157.43	130	chr3	170998041	.	G	A	22157.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.376e+00;DP=1743;ExcessHet=2.0984;FS=1.125;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.364;SOR=0.576	GT:AD:DP:GQ:PL	0/1:62,75:137:99:2134,0,1690	9	2	10	0
chr4	634704	634704	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon2:c.G496A:p.E166K	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	1	1465	54	2	0	58	0.019411	.	.	295348	Congenital_stationary_night_blindness_autosomal_dominant_2|Retinitis_pigmentosa|not_provided|Retinal_dystrophy	MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.021	B	0.014	B	0.000	D	1.000	D	0.21	N	-0.23	T	-0.972	T	0.093	T	0.278	-1.222	0.062	4.28	1.944	3.421	14.200	0.145	.	0.0087	0.00499201	0.0096	0.0020	0.0068	0	0.0042	0.0139	0.0066	0.0065	0.00978	1512	154602	rs115775983	0.0120	0.0121	0.0122	0.0119	0.0137	0.0119	0.0118	0.0135	0.0135	0.0021	0.0074	0.0140	0.0002	0.0050	0.0116	0.0137	0.0114	0.0066	0.0091	0.0091	0.0099	0.0082	0.0131	0.0087	0.0085	0.0124	0.0121	0.0024	0.0802	0.0103	0.0167	0.0004	0.0038	0.0034	0.0131	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.017	0.18474	B	0.008	0.16862	B	0.000002	0.62929	D	0.055788	0.999934	0.51612	D	0.52	0.13579	N	-0.23	0.66652	T	0.64	0.02368	N	0.504	0.54234	-0.9719	0.36798	T	0.093	0.35336	T	10	0.006758034	0.00153	T	.	.	.	0.145	0.38592	.	.	0.764465206445	0.76231	0.6591859148317153	0.65855	0.570417275968	0.53198	0.506645441055	0.39754	T	0.181803	0.53359	T	-0.420052	0.01709	T	-0.364476	0.37534	T	0.00907532143853738	0.00114	T	0.927907	0.73422	D	0.27059433	0.50131	0.18972649	0.42335	0.29364362	0.52330	0.16230349	0.37708	-3.517	0.16685	T	0.06406952643032428	0.02014	0.091	0.15385	B	.;.	.;.	2.431908	0.31284	18.70	0.22687550527391873	0.00924	0.86985	0.46393	D	AEFDBI	0.185573	0.31289	N	-0.575143034493976	0.19701	1.033188	-0.411563835111279	0.24658	1.351505	0.0858597422783776	0.15993	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	3.717000	0.54640	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	14.200	0.65237	804	0.43891	.;GAF domain|GAF domain	RP11-1263C18.2	Skin_Not_Sun_Exposed_Suprapubic	PIGG|PIGG|PIGG|PIGG|PIGG|PIGG|PIGG	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Testis	rs115775983	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	0.07143	4465.68	36	chr4	634704	.	G	A	4465.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.908;DP=980;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.367;SOR=0.690	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1750,0,1290	18	0	3	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	306	693	523	0	1739	0.739685	.	.	54598	Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified|not_provided	MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.5952	97164.78	225	chr4	6300980	.	C	T	97164.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=-2.344e+00;DP=4951;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=22.36;ReadPosRankSum=0.497;SOR=0.715	GT:AD:DP:GQ:PL	0/1:137,139:276:99:3751,0,3864	4	8	9	0
chr4	6301162	6301162	G	A	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.G1367A:p.R456H	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	1342	164	16	0	196	0.0680556	.	.	54601	Wolfram_syndrome_1|not_provided|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified	MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:C3661900|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.953	D	0.000	D	1.000	D	2.34	M	-2.53	D	-0.309	T	0.200	T	0.404	2.853	15.50	4.77	2.195	9.067	16.785	0.529	.	0.0467	0.0603035	0.0570	0.0360	0.0581	0.0921	0.0767	0.0509	0.0806	0.0663	0.0554909	8579	154602	rs1801208	0.0519	0.0519	0.0516	0.0522	0.1010	0.0516	0.0514	0.0984	0.0974	0.0393	0.0611	0.0368	0.1010	0.0781	0.0684	0.0480	0.0570	0.0637	0.0511	0.0511	0.0496	0.0526	0.0967	0.0502	0.0498	0.0897	0.0870	0.0367	0.0264	0.0603	0.0395	0.0967	0.0821	0.0918	0.0493	0.0546	0.0635	0.08	0.33585	T	0.011	0.64786	D	1.0	0.90584	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999982	0.54805	D	2.785	0.81254	M	-2.53	0.89430	D	-1.31	0.32791	N	0.31	0.37093	-0.3089	0.74736	T	0.200	0.55541	T	10	0.005521953	0.00122	T	.	.	.	0.529	0.80128	.	.	.	.	0.8032156632406995	0.80275	.	.	0.621801912785	0.55984	T	0.337688	0.70704	T	-0.254498	0.13552	T	-0.0514921	0.66920	D	0.0528049889824658	0.05985	T	0.928407	0.73561	D	0.11924474	0.28081	0.105894595	0.25465	0.11259901	0.26600	0.11827476	0.28550	-4.182	0.26490	T	0.7180372864535224	0.79888	0.178	0.38800	B	.;.	.;.	4.364237	0.67135	25.1	0.9987505862718028	0.95244	0.99156	0.92054	D	AEFDBI	0.876979	0.80133	D	0.662040658012356	0.77150	6.619647	0.587040423047931	0.74008	6.064921	0.999999999888025	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	9.341000	0.96446	8.658000	0.77960	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.443000	0.27738	0.0:0.0:1.0:0.0	16.785	0.85434	970	0.06235	.;.	.	.	TBC1D14	Artery_Tibial	.	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	1	0	0.119	10736.44	177	chr4	6301162	.	G	A	10736.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.665;DP=3382;ExcessHet=1.1607;FS=4.052;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=4.000e-03;SOR=0.985	GT:AD:DP:GQ:PL	0/1:101,103:204:99:2810,0,2589	16	0	5	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	YES	10	265	679	568	0	1815	0.773987	.	.	54604	not_specified|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.5952	70076.78	204	chr4	6301295	.	C	T	70076.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=2.07;DP=3793;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=21.54;ReadPosRankSum=0.392;SOR=0.690	GT:AD:DP:GQ:PL	0/1:122,98:220:99:2612,0,3023	4	8	9	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	.	432	231	483	376	0	1235	0.727755	.	.	1276892	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1641,0,1613	5	7	9	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:12,5,10,0,0:27:99:.:.:310,137,626,0,227,317,328,594,382,751,328,594,382,751,751	4	0	0	0
chr5	39288783	39288783	C	T	exonic	C9	.	nonsynonymous SNV	C9:NM_001737:exon10:c.G1585A:p.A529T,	C9 deficiency	YES	2	1518	2	0	0	2	0.000658328	.	.	1534602	Age_related_macular_degeneration_15|Complement_component_9_deficiency|not_provided	MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591|MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.237	N	1.000	N	-1.04	N	-1.94	D	-0.879	T	0.184	T	0.029	0.292	5.581	-8.51	-0.882	-1.197	3.451	0.234	0.0211203642337	0.0003	0.00159744	0.0005	0.0002	0.0002	0	0	0.0003	0.0011	0.0024	0.0005627	87	154602	rs137891079	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0007	0.0026	0.0024	5.991e-05	0.0002	0	0	1.872e-05	0.0003	0.0007	0.0009	0.0029	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	4.818e-05	0	0	0	0	0	0	0.0006	0.0005	0.0033	0.809	0.03044	T	0.742	0.04947	T	0.0	0.02946	B	0.0	0.01387	B	0.237218	0.03558	N	1.454380	1	0.08975	N	-0.84	0.01504	N	-1.94	0.84919	D	-0.2	0.10136	N	0.04	0.01347	-0.8793	0.49817	T	0.184	0.53209	T	10	0.013572186	0.00287	T	0.02112	0.43839	T	0.234	0.53644	.	.	0.455816718377	0.45207	0.34817116393306585	0.34731	0.0324740096755	0.03394	0.24389372766	0.03152	T	0.008154	0.07505	T	-0.569413	0.00223	T	-0.597175	0.13050	T	0.000729340678505016	0.00007	T	0.371363	0.08780	T	0.0839138	0.19398	0.05673301	0.10190	0.0839138	0.19398	0.05673301	0.10189	-4.717	0.33610	T	0.06326907279804357	0.01932	0.068	0.02765	B	.	.	-0.805947	0.01095	0.049	0.4474683766928807	0.03463	0.01386	0.04714	N	AEFI	0.105961	0.21156	N	-1.81941593599529	0.00499	0.02149548	-1.80811251753575	0.00734	0.03269311	0.999210343222786	0.38775	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.79	-8.51	0.00804	-1.191000	0.03164	-0.349000	0.09758	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.2368:0.2055:0.0644:0.4932	3.451	0.07066	727	0.54702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	37	chr5	39288783	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.601e+00;DP=853;ExcessHet=0.0000;FS=2.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.103;SOR=0.484	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1896,0,2047	20	0	1	0
chr5	90716735	90716735	G	A	intronic	ADGRV1	.	.	.	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	9	1499	13	1	0	15	0.00497843	0.0007	0.042	174309	not_specified|not_provided|Usher_syndrome_type_2C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00119808	0.0009	0.0010	0.0028	0	0	0.0008	0.0034	0.0004	0.0007503	116	154602	rs201481219	0.0007	0.0007	0.0007	0.0007	0.0135	0.0007	0.0006	0.0111	0.0102	0.0005	0.0020	0.0022	0	1.886e-05	0.0135	0.0006	0.0013	0.0005	0.0009	0.0009	0.0008	0.0010	0.0029	0.0008	0.0007	0.0023	0.0020	0.0007	0	0.0029	0.0023	0	0	0.0238	0.0006	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	737.98	33	chr5	90716735	.	G	A	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=814;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.850e-01;SOR=0.373	GT:AD:DP:GQ:PL	0/1:31,29:60:99:752,0,854	20	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:79,56:135:99:1189,0,1999	5	5	11	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N	.	.	443	1034	37	8	0	53	0.0249882	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.041	B	0.066	B	.	.	1.000	D	3.94	H	0.86	T	-0.451	T	0.158	T	0.383	3.815	19.37	3.73	2.051	2.379	16.078	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, 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	0.04762	1300.11	146	chr5	140848623	.	C	A	1300.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=2548;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-6.974e+00;QD=3.85;ReadPosRankSum=-6.260e-01;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,24:164:99:0|1:140848597_C_G:586,0,5713:140848597	19	0	2	0
chr5	162067985	162067985	A	-	UTR5	GABRG2	NM_001375350:c.-29746del-;NM_001375349:c.-27536del-;NM_001375348:c.-29746del-;NM_001375344:c.-15del-;NM_001375343:c.-15del-;NM_001375342:c.-15del-;NM_001375341:c.-15del-;NM_001375339:c.-15del-;NM_001375340:c.-15del-;NM_198903:c.-15del-;NM_000816:c.-15del-;NM_198904:c.-15del-	.	.	Epilepsy, generalized, with febrile seizures plus, type 3, Autosomal dominant;Febrile seizures, familial, 8, Autosomal dominant	.	0	202	24	0	0	24	0.0560748	.	.	298652	Generalized_epilepsy_with_febrile_seizures_plus|Severe_myoclonic_epilepsy_in_infancy|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3833	0.3806	0.3791	0.3908	0.3132	0.3857	0.3465	0.4014	0.0016136	42	26028	rs780201998	0.1348	0.2306	0.1338	0.1359	0.1919	0.1341	0.1338	0.1867	0.1846	0.1767	0.1919	0.1747	0.1841	0.1705	0.0991	0.1276	0.1490	0.1353	0.0088	0.0103	0.0091	0.0085	0.0280	0.0084	0.0082	0.0266	0.0261	0.0280	0	0.0043	0.0006	0.0002	0.0038	0	0.0008	0.0057	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	83.43	40	chr5	162067984	.	GA	G	83.43	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.680e-01;DP=1392;ExcessHet=0.1072;FS=0.791;InbreedingCoeff=-0.0414;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.837;SOR=0.551	GT:AD:DP:GQ:PL	0/1:137,16:155:1:1,0,3188	19	0	2	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R	.	.	415	588	404	115	0	634	0.350276	.	.	31365	not_specified|See_cases|Cancer_progression_and_tumor_cell_motility|FGFR4-related_disorder	MedGen:CN169374|.|MedGen:C4016099|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.7	P	0.006	N	0.000	P	1.1	L	-1.67	D	-0.884	T	0.000	T	0.707	3.743	19.01	4.29	2.233	4.235	11.212	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	15721.78	33	chr5	177093242	.	G	A	15721.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.25;DP=1298;ExcessHet=0.2067;FS=0.548;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=18.92;ReadPosRankSum=0.173;SOR=0.632	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1497,0,1136	13	2	6	0
chr6	1611907	1611912	GCGGCG	-	exonic	FOXC1	.	nonframeshift deletion	FOXC1:NM_001453:exon1:c.1462_1467del:p.A494_A495del,	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	0	223	3	0	0	3	0.00668151	.	.	585646	not_provided|Axenfeld-Rieger_syndrome_type_3	MedGen:C3661900|MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0033	0	0.0026	0.0002781	43	154602	rs771540524	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0023	0.0020	0	0.0004	0.0019	2.8e-05	0	0.0035	0.0003	0.0006	0.0021	0.0004	0.0004	0.0003	0.0004	0.0026	0.0003	0.0003	0.0014	0.0011	5.273e-05	0	0.0005	0.0009	0	0	0.0049	0.0005	0.0005	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3396.07	35	chr6	1611906	.	CGCGGCG	C	3396.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.976;DP=968;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=20.83;ReadPosRankSum=0.469;SOR=0.743	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1423,0,1465	19	0	2	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L,	Factor XIIIA deficiency, Autosomal recessive	.	4	868	532	118	0	768	0.306709	.	.	252448	not_provided|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:95,79:174:99:1995,0,2104	12	2	7	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	5	101	508	907	1	2323	0.919968	.	.	54134	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	0/1:183,254:437:99:6981,0,4855	1	7	13	0
chr6	25761999	25761999	G	T	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.G37T:p.D13Y,	.	.	433	1080	9	0	0	9	0.00414938	.	.	2340078	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.731	P	0.001	N	1.000	N	0	N	-0.31	T	-0.843	T	0.176	T	0.154	1.560	11.17	-0.913	-0.194	0.471	5.993	0.229	0.0156294671014	.	.	0.0005	9.641e-05	0.0013	0	0.0002	0.0006	0.0022	6.116e-05	0.0004075	63	154602	rs143424660	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.406e-05	0	0.0016	0.0040	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.008	0.58626	D	0.016	0.60972	D	0.958	0.54977	D	0.438	0.45631	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.31	0.68030	T	-2.9	0.60827	D	0.206	0.22870	-0.8428	0.52460	T	0.176	0.52037	T	10	0.01386109	0.00293	T	0.015629	0.36469	T	0.229	0.52916	.	.	0.37568098594	0.37176	0.42803958335129305	0.42720	0.135075783952	0.15223	0.268635213375	0.05964	T	0.149937	0.48918	T	-0.428246	0.01519	T	-0.469706	0.25548	T	0.0681280327577997	0.08387	T	0.493751	0.15260	T	0.09663421	0.22764	0.11942261	0.28824	0.09663421	0.22764	0.11942261	0.28824	-6.022	0.46464	T	.	.	0.082	0.08899	B	.	.	1.895600	0.24075	16.26	0.82494463703240095	0.14222	0.04367	0.09940	N	AEFBI	0.091053	0.18447	N	-0.635765753794114	0.17878	0.9236793	-0.804943136868292	0.14376	0.7508268	6.23045122054681E-4	0.07482	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-0.913	0.09966	0.480000	0.21954	1.514000	0.27045	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.017000	0.10941	0.1887:0.4711:0.3402:0.0	5.993	0.18706	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1703.98	34	chr6	25761999	.	G	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.200e-02;DP=823;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-4.680e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:25761998_G_GT:1718,0,3134:25761998	20	0	1	0
chr6	25762001	25762001	C	A	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.C39A:p.D13E,	.	.	432	1081	9	0	0	9	0.00414556	.	.	2340079	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.03	B	0.031	B	0.001	N	1.000	N	0	N	-0.16	T	-1.037	T	0.042	T	0.026	-1.457	0.019	-8.46	-2.446	-1.300	4.559	0.041	0.0047206888041	.	.	0.0005	9.639e-05	0.0013	0	0.0002	0.0006	0.0022	6.118e-05	0.0004075	63	154602	rs150942022	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.703	0.04134	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.16	0.65378	T	-0.13	0.08971	N	0.108	0.09349	-1.0368	0.18295	T	0.042	0.18118	T	10	0.006346971	0.00143	T	0.004721	0.11753	T	0.041	0.10877	0.305	0.27485	0.137902524267	0.13322	0.05126253807932022	0.05068	0.0685600842673	0.07678	0.259500771761	0.04832	T	0.015135	0.12752	T	-0.602972	0.00140	T	-0.720688	0.04762	T	0.00904730794126588	0.00113	T	0.29617	0.05481	T	0.026142983	0.01635	0.022645758	0.00285	0.026142983	0.01635	0.022645758	0.00285	-3.348	0.14364	T	.	.	0.098	0.16275	B	.	.	-1.117574	0.00620	0.016	0.28101542504643928	0.01427	0.00787	0.03223	N	AEFBI	0.061203	0.11685	N	-2.06775497969595	0.00151	0.006451039	-2.13961945000669	0.00153	0.006711604	0.986420855573553	0.31061	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-8.46	0.00822	-1.308000	0.02839	-3.557000	0.02697	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1351:0.5029:0.1022:0.2597	4.559	0.11548	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1703.98	34	chr6	25762001	.	C	A	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=821;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-6.980e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:25761998_G_GT:1718,0,3134:25761998	20	0	1	0
chr6	43603942	43603942	T	C	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon5:c.T443C:p.I148T	Xeroderma pigmentosum, variant type, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	896387	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum_variant_type	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.867	P	0.269	B	0.066	N	0.971	D	0.805	L	-0.84	T	-0.839	T	0.151	T	0.399	3.859	19.60	5.62	2.131	7.427	15.481	0.439	0.0370857502828	0.0005	0.000798722	0.0011	9.612e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0041	0.0010414	161	154602	rs147712217	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0012	0.0045	0.0044	0.0002	0.0004	0.0003	2.52e-05	0.0002	0.0012	0.0012	0.0012	0.0049	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0002	0	0.0009	0	0.0004	0	0.0034	0.0008	0.0009	0.0050	0.009	0.57480	D	0.016	0.67890	D	0.867	0.47667	P	0.269	0.39840	B	0.066056	0.21837	N	0.460473	0.953	0.38846	D	1.34	0.33385	L	-0.84	0.74265	T	-3.12	0.63782	D	0.552	0.66873	-0.8393	0.52693	T	0.151	0.47962	T	10	0.013476521	0.00286	T	0.037086	0.57399	D	0.439	0.74306	.	.	0.894541215783	0.89349	0.6475634784784758	0.64691	0.40514499607	0.41401	0.297665178776	0.10053	T	0.365346	0.73078	T	-0.27801	0.10879	T	-0.171852	0.57273	T	0.0428584178205695	0.04212	T	0.859214	0.57956	D	0.4660157	0.65045	0.2937161	0.55400	0.5146165	0.67949	0.33418176	0.59246	-7.488	0.58171	T	.	.	0.136	0.29642	B	.;.	.;.	4.530419	0.71121	25.6	0.99784373698370799	0.87043	0.98551	0.83998	D	AEFBI	0.757867	0.69669	D	0.19781104852497	0.51094	3.293443	0.291114204816552	0.55020	3.665534	0.999999997008656	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.62	5.62	0.85714	7.459000	0.79833	7.896000	0.73301	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	15.481	0.75260	229	0.91079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	939.98	34	chr6	43603942	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=791;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=0.677;SOR=0.714	GT:AD:DP:GQ:PL	0/1:63,40:103:99:954,0,1543	20	0	1	0
chr6	75138457	75138457	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon14:c.G1729A:p.E577K	Bethlem myopathy 2	.	427	1083	12	0	0	12	0.00550964	.	.	455778	not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.878	P	0.546	P	0.000	D	0.992	D	1.965	M	-2.24	D	0.284	D	0.616	D	0.907	3.086	16.31	5.79	2.726	3.615	20.022	0.590	0.0571540393042	0.0007	0.000199681	0.0008	0.0001	0.0009	0	0	0.0010	0.0022	0.0012	0.000718	111	154602	rs200201449	0.0005	0.0005	0.0004	0.0005	0.0019	0.0005	0.0004	0.0011	0.0009	5.982e-05	0.0004	0.0053	0	0	0.0019	0.0003	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	0.0015	0.0004	0.0003	0.0007	0.0005	0.0001	0	0.0004	0.0072	0	0	0.0034	0.0004	0	0.0015	0.031	0.53172	D	0.028	0.61642	D	0.807	0.48285	P	0.344	0.49068	B	0.000000	0.84330	D	0.000000	0.992293	0.41606	D	2.98	0.85499	M	-2.26	0.87830	D	-1.37	0.38540	N	0.713	0.71942	0.284	0.87307	D	0.616	0.86431	D	10	0.03610739	0.01893	T	0.057154	0.66863	D	0.590	0.83636	.	.	0.956005400358	0.95553	0.666774553540997	0.66615	0.599886947289	0.55091	0.594975709915	0.52195	T	0.025985	0.47311	T	0.0909913	0.63301	D	0.317393	0.88980	D	0.0677321340080628	0.08330	T	0.979902	0.94158	D	0.23888248	0.46771	0.25632364	0.51330	0.23387119	0.46198	0.23323806	0.48507	-7.203	0.60647	T	0.4721309161829964	0.55238	0.317	0.54265	B	.;.;.;.;.	.;.;.;.;.	5.581303	0.92305	32	0.99813577759892969	0.89708	0.95148	0.63614	D	AEFBI	0.510484	0.53951	D	0.465479132832166	0.65087	4.778534	0.502282263181838	0.68143	5.179722	0.999999999932196	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	3.684000	0.54403	7.592000	0.61280	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.281000	0.24041	0.0:1.0:0.0:0.0	20.022	0.97507	835	0.38313	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2198.98	33	chr6	75138457	.	C	T	2198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.233e+00;DP=774;ExcessHet=0.0000;FS=2.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.71;ReadPosRankSum=-1.419e+00;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,59:89:99:0|1:75138457_C_T:2213,0,1062:75138457	20	0	1	0
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	402	432	251	308	129	996	0.500867	.	.	298899	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:12,3,11,0:28:99:.:.:303,307,641,0,222,400,347,568,322,631	3	0	1	0
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	64	102	8	11	41	71	0.128205	.	.	306033	Hypophosphatemic_Rickets,_Recessive|not_specified|not_provided|Arterial_calcification,_generalized,_of_infancy,_1	MedGen:CN239452|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs373838049	0.0474	0.0578	0.0472	0.0476	0.1058	0.0471	0.0469	0.1024	0.1009	0.1058	0.0777	0.0304	0.0231	0.0959	0.0366	0.0445	0.0483	0.0343	0.0671	0.0670	0.0676	0.0665	0.1205	0.0659	0.0654	0.1175	0.1162	0.1205	0.0594	0.0647	0.0210	0.0188	0.0760	0.0654	0.0467	0.0560	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	4955.76	13	chr6	131847856	.	GGTGT	GGT,GGTGTGT,GGTGTGTGT,G,GTTGTGTGT,*	4955.76	.	AC=7,5,1,4,1,1;AF=0.167,0.119,0.024,0.095,0.024,0.024;AN=42;BaseQRankSum=0.318;DP=762;ExcessHet=2.1081;FS=0.398;InbreedingCoeff=-0.0365;MLEAC=7,5,1,4,1,1;MLEAF=0.167,0.119,0.024,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=0.189;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:10,2,0,0,9,0,0:21:99:.:.:277,195,429,282,470,607,282,470,607,607,0,229,361,361,393,282,470,607,607,361,607,282,470,607,607,361,607,607	6	0	4	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	1/3:3,12,0,5,0,0:20:99:431,128,135,448,187,606,238,0,437,523,448,187,606,437,606,448,187,606,437,606,606	7	0	0	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	1/3:3,12,0,5,0,0:20:99:431,128,135,448,187,606,238,0,437,523,448,187,606,437,606,448,187,606,437,606,606	7	0	0	0
chr6	152444592	152444592	A	-	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	10	181	22	1	12	36	0.0621762	.	.	299490	Emery-Dreifuss_muscular_dystrophy|not_provided|not_specified|Cerebellar_ataxia|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1541	.	0.2126	0.1732	0.2234	0.1883	0.1712	0.2367	0.2051	0.1702	0.0038036	99	26028	rs111322292	0.0628	0.0977	0.0627	0.0629	0.0670	0.0624	0.0622	0.0665	0.0663	0.0432	0.0570	0.0605	0.0220	0.0519	0.0324	0.0670	0.0577	0.0443	0.0325	0.0325	0.0346	0.0304	0.0449	0.0318	0.0315	0.0436	0.0430	0.0220	0.0067	0.0268	0.0310	0.0026	0.0209	0.0071	0.0449	0.0350	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	724.4	37	chr6	152444591	.	GA	G	724.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.092e+00;DP=800;ExcessHet=1.1607;FS=1.157;InbreedingCoeff=-0.1352;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=3.89;ReadPosRankSum=-1.180e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:30,6:36:62:62,0,737	16	0	5	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A	.	.	426	313	516	267	0	1050	0.626492	.	.	29790	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.73	T	0.024	B	0.014	B	0.003	N	0.812	P	.	.	2.8	T	-0.931	T	0.008	T	0.209	1.174	9.777	3.08	0.205	2.565	9.062	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	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	1	0	0.4524	18083.6	58	chr6	159692840	.	A	G	18083.6	.	AC=19;AF=0.452;AN=42;BaseQRankSum=1.17;DP=1182;ExcessHet=2.1081;FS=0.000;InbreedingCoeff=-0.0572;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.348;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2367,192,0	6	4	11	0
chr7	21750217	21750217	G	A	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1495	26	0	0	26	0.00862069	0.9741	0.676	174069	not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_7|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00239617	0.0074	0.0002	0.0026	0	0.0044	0.0079	0.0098	0.0157	0.003965	613	154602	rs189821372	0.0042	0.0043	0.0040	0.0045	0.0102	0.0041	0.0041	0.0096	0.0093	0.0007	0.0017	0.0094	2.547e-05	0.0026	0.0047	0.0041	0.0043	0.0102	0.0032	0.0032	0.0035	0.0028	0.0083	0.0029	0.0028	0.0063	0.0056	0.0008	0.0011	0.0020	0.0095	0	0.0010	0.0034	0.0047	0.0048	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1807.11	34	chr7	21750217	.	G	A	1807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.71;DP=845;ExcessHet=0.1072;FS=1.178;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.51;SOR=0.806	GT:AD:DP:GQ:PL	0/1:50,32:82:99:752,0,1200	19	0	2	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,124:124:99:1|1:21867834_G_GT:5556,373,0:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	1/2:2,18,8:28:99:704,136,189,395,0,368	0	1	3	1
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:28,2,24:54:99:.:.:527,542,1580,0,939,934	1	0	0	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	1/4:0,14,0,0,21,0:37:99:1707,856,783,1659,862,1658,1659,862,1658,1658,634,0,646,646,601,1659,862,1658,1658,646,1658	0	9	5	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y,	Insulin resistance, severe, digenic, Autosomal dominant	.	11	895	492	124	0	740	0.29249	.	.	23745	PPP1R3A-related_disorder|not_provided|Type_2_diabetes_mellitus|Insulin_resistance,_susceptibility_to	.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.72	P	0.025	N	0.836	P	1.78	L	2.05	T	-0.998	T	0.000	T	0.447	1.893	12.29	5.64	2.646	3.209	11.640	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	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	0.119	10951.44	151	chr7	113878379	.	C	A	10951.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.165e+00;DP=1495;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.178e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:105,88:193:99:2365,0,2909	16	0	5	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P,	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	2	82	476	962	0	2400	0.936037	.	.	135324	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	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	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4362,411,0	1	12	8	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	2137883	Inborn_genetic_diseases|not_provided|PODXL-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2593.39	62	chr7	131505863	.	C	T	2593.39	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.173e+00;DP=1634;ExcessHet=17.4423;FS=182.300;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=0.956;SOR=11.937	GT:AD:DP:GQ:PL	0/1:58,27:85:99:209,0,1249	6	0	15	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1184	338	0	0	338	0.124908	0	0.172	933718	not_provided|Hereditary_pancreatitis	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.090	N	0.999	N	0.305	N	-3.18	D	-0.656	T	0.520	D	0.084	-2.546	0.003	2.43	0.685	1.840	11.878	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	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	0.2619	6566.3	235	chr7	142749524	.	C	G	6566.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=4.38;DP=4162;ExcessHet=7.7275;FS=14.002;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.17;MQRankSum=-1.853e+01;QD=1.81;ReadPosRankSum=-3.398e+00;SOR=2.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,35:281:99:0|1:142749506_A_G:729,0,10217:142749506	10	0	11	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,61:150:99:.:.:2153,0,2457	6	0	15	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1242	280	0	0	280	0.101302	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	0.017	N	1.000	A	.	.	.	.	.	.	.	.	.	2.152	13.15	2.59	0.757	0.450	12.188	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	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;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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.3333	11579.59	103	chr7	142750680	.	C	T	11579.59	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.980e-01;DP=2593;ExcessHet=14.4320;FS=1.494;InbreedingCoeff=-0.5074;MLEAC=14;MLEAF=0.333;MQ=58.14;MQRankSum=-1.043e+01;QD=5.26;ReadPosRankSum=-1.991e+00;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,39:152:99:0|1:142750672_T_A:1297,0,4607:142750672	7	0	14	0
chr7	142750700	142750700	C	T	exonic	PRSS1	.	synonymous SNV	PRSS1:NM_002769:exon2:c.C186T:p.G62G,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1392	130	0	0	130	0.0446122	.	.	1838992	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0277	0.0571	0.0080	0.0036	0.04	0.0237	0.0368	0.0486	0.0001552	24	154602	rs199713773	0.0059	0.0919	0.0046	0.0071	0.0117	0.0057	0.0057	0.0106	0.0101	0.0117	0.0076	0.0095	0.0040	0.0184	0.0041	0.0054	0.0091	0.0016	0.1047	0.2848	0.1054	0.1040	0.1897	0.1027	0.1019	0.1841	0.1818	0.1897	0.0930	0.1003	0.0786	0.0135	0.1257	0.0417	0.0817	0.0946	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.2619	5354.16	84	chr7	142750700	.	C	T	5354.16	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.656;DP=1892;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3489;MLEAC=11;MLEAF=0.262;MQ=58.03;MQRankSum=-1.138e+01;QD=3.65;ReadPosRankSum=-2.976e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,31:135:99:0|1:142750691_A_G:968,0,4245:142750691	10	0	11	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1452	70	0	0	70	0.0235373	1.0000	0.848	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.562	11.18	3.49	1.879	7.689	14.397	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1318.55	67	chr7	142750715	.	G	A	1318.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.58;DP=1579;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.15;MQRankSum=-1.023e+01;QD=1.75;ReadPosRankSum=-3.514e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:89,18:107:99:295,0,2548	14	0	7	0
chr7	142752950	142752950	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon5:c.A674G:p.K225R,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1276	246	0	0	246	0.0879199	.	.	489825	not_specified|not_provided|Hereditary_pancreatitis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.002	B	0.437	N	1.000	N	0.485	N	-2.38	D	-0.775	T	0.356	T	0.205	-0.839	0.576	-4.1	-0.871	0.195	4.484	0.241	0.0563907113932	.	0.000199681	4.12e-05	9.638e-05	0	0.0002	0	0	0	0.0001	0.0026126	68	26028	rs541223359	0.0001	0.0444	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	8.039e-05	0.0001	0.0001	0.0003	0.0002	0.0001	0.0002	0.0003	0.0625	0.2471	0.0635	0.0614	0.1148	0.0610	0.0604	0.1107	0.1090	0.1148	0.0323	0.0683	0.0422	0.0110	0.0760	0.0427	0.0445	0.0571	0.0198	0.48	0.09572	T	0.352	0.17372	T	0.0	0.02946	B	0.002	0.06944	B	0.436750	0.12679	N	0.782790	0.999998	0.08975	N	0.355	0.11969	N	-2.38	0.88298	D	-1.0	0.26422	N	0.087	0.07125	-0.7748	0.56592	T	0.356	0.71850	T	10	0.07178062	0.10627	T	0.056391	0.66588	D	0.241	0.54641	.	.	0.459642846412	0.45589	0.5199644332738709	0.51919	0.132481952341	0.14936	0.202874571085	0.00545	T	0.394159	0.75337	T	-0.0844771	0.38985	T	-0.359122	0.38153	T	0.00933494863009668	0.00119	T	.	.	.	0.111516565	0.26353	0.10829246	0.26085	0.111516565	0.26353	0.10829246	0.26084	-3.264	0.13277	T	.	.	0.104	0.18746	B	.;.;.	.;.;.	-1.224358	0.00507	0.011	0.38899255705893293	0.02652	0.04907	0.10657	N	AEFBI	0.190157	0.31739	N	-1.77807229907533	0.00601	0.02589842	-1.78133773023897	0.00821	0.03665607	0.00183854746915247	0.08930	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.18	-4.1	0.03674	0.006000	0.13051	.	.	-2.707000	0.00208	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.6101:0.0:0.2543:0.1356	4.484	0.11193	776	0.48302	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;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2761.87	201	chr7	142752950	.	A	G	2761.87	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.46;DP=4098;ExcessHet=3.5521;FS=4.793;InbreedingCoeff=-0.2347;MLEAC=8;MLEAF=0.190;MQ=58.89;MQRankSum=-1.419e+01;QD=1.19;ReadPosRankSum=-4.179e+00;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,26:269:99:0|1:142752947_A_G:360,0,10055:142752947	13	0	8	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	312269	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	P	0	N	2.94	T	-0.960	T	0.013	T	0.028	0.469	6.544	-1.85	-0.966	1.133	7.767	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,51,90:141:99:.:.:17277,7267,8278,6985,0,6225	3	1	5	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	490785	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,51,90:141:99:.:.:17277,7267,8278,6985,0,6225	3	1	5	0
chr8	18084159	18084159	C	T	intronic	ASAH1	.	.	.	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	.	8	1458	55	1	0	57	0.0191726	.	.	308432	not_provided|Farber_lipogranulomatosis	MedGen:C3661900|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000,Orphanet:333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	.	.	.	.	.	.	.	.	0.0039133	605	154602	rs139001299	0.0285	0.0281	0.0290	0.0280	0.0318	0.0283	0.0282	0.0315	0.0314	0.0069	0.0109	0.0383	8.036e-05	0.0422	0.0145	0.0318	0.0259	0.0083	0.0228	0.0228	0.0231	0.0225	0.0322	0.0222	0.0219	0.0310	0.0306	0.0071	0.1096	0.0165	0.0398	0	0.0400	0.0068	0.0322	0.0189	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999926	0.19486	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002769798	0.00043	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023318	0.17820	T	.	.	.	.	.	.	.	.	.	0.210779	0.02549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.46722	B	.	.	1.397597	0.18111	13.55	0.9692179206074214	0.31621	0.17704	0.19952	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999999	0.74766	0.030766	0.00208	2	0.073863	0.01883	0	0.067829	0.01913	2	0.006406	0.00065	2	0.0739538	0.17239	4.32	0.373	0.15410	-0.241000	0.08958	0.304000	0.17011	-0.298000	0.06216	0.000000	0.06391	0.000000	0.08366	0.810000	0.38174	0.14:0.3024:0.5577:0.0	9.200	0.36415	923	0.18507	.	ASAH1|RP11-806O11.1|ASAH1|ASAH1|ASAH1|RP11-806O11.1|ASAH1|ASAH1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	PCM1	Brain_Hippocampus	rs139001299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	556.98	21	chr8	18084159	.	C	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.88;ReadPosRankSum=-2.810e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:12,21:33:99:571,0,290	20	0	1	0
chr8	27479260	27479265	ACACAT	-	UTR5	CHRNA2	NM_000742:c.8203_8202delins-;NM_001347708:c.15413_15412delins-;NM_001347707:c.15413_15412delins-;NM_001347706:c.15296_15295delins-;NM_001282455:c.8203_8202delins-;NM_001347705:c.15296_15295delins-	.	.	Epilepsy, nocturnal frontal lobe, type 4, Autosomal dominant	.	1239	255	10	11	7	39	0.0590406	.	.	314028	Sleep-related_hypermotor_epilepsy|not_provided	MONDO:MONDO:0000030,MedGen:C4313718,OMIM:PS600513|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs886062852	0.1371	0.0090	0.1798	0.1240	0.2000	0.1182	0.1110	0.1224	0.1144	0	0.2000	0.5000	0.1500	0	0	0.1437	0.0909	0.0625	0.1478	0.1493	0.1450	0.1508	0.1876	0.1462	0.1455	0.1848	0.1837	0.0402	0.1264	0.1832	0.1630	0.0849	0.2964	0.1276	0.1876	0.1296	0.0870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	189.17	3	chr8	27479259	.	CACACAT	C	189.17	.	AC=2;AF=0.067;AN=30;DP=124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4063;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=31.54;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:27479250_A_T:225,15,0:27479250	14	1	0	6
chr8	132871426	132871426	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon4:c.C353T:p.P118L,	Thyroid dyshormonogenesis 3, Autosomal recessive	YES	0	1510	12	0	0	12	0.00395778	.	.	898917	Iodotyrosyl_coupling_defect|not_provided	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.966	D	0.000	D	1.000	D	3.215	M	-2.5	D	0.617	D	0.747	D	0.373	3.651	18.56	5.58	2.630	5.254	16.730	0.775	.	0.0169	0.00579073	0.0147	0.0044	0.0060	0	0.0189	0.0221	0.0088	0.0039	0.0037386	578	154602	rs114322847	0.0217	0.0217	0.0224	0.0210	0.0257	0.0215	0.0214	0.0254	0.0253	0.0034	0.0064	0.0078	0	0.0234	0.0033	0.0257	0.0164	0.0040	0.0137	0.0137	0.0144	0.0130	0.0222	0.0132	0.0130	0.0213	0.0209	0.0043	0	0.0073	0.0046	0	0.0214	0	0.0222	0.0128	0.0033	0.083	0.33091	T	0.002	0.79402	D	0.998	0.73220	D	0.966	0.71341	D	0.000006	0.62929	D	0.000000	0.999989	0.54805	D	4.345	0.98444	H	-2.5	0.89219	D	-4.03	0.74348	D	0.951	0.95956	0.617	0.92117	D	0.747	0.91362	D	10	0.013117522	0.00279	T	.	.	.	0.775	0.92460	.	.	.	.	0.8691240132055407	0.86877	0.417430036823	0.42361	0.474553883076	0.35308	T	0.255044	0.62578	T	-0.232174	0.16362	T	-0.0839664	0.64613	T	0.0550508909644634	0.06366	T	0.861714	0.55578	D	0.76095366	0.81509	0.5766314	0.75470	0.78401107	0.82903	0.5766314	0.75471	-8.772	0.66217	D	0.7373482814644046	0.81931	0.414	0.60361	A	.	.	4.743935	0.76536	26.5	0.99804605706164817	0.88906	0.91243	0.53141	D	AEFGBI	0.489225	0.52722	N	0.79870392153055	0.86024	8.754962	0.725041527819073	0.84280	8.248286	0.999999956457889	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	5.287000	0.65449	7.532000	0.59933	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.0:1.0:0.0:0.0	16.730	0.85292	882	0.29131	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	rs114322847	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1924.98	35	chr8	132871426	.	C	T	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=884;ExcessHet=0.0000;FS=5.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.561;SOR=0.949	GT:AD:DP:GQ:PL	0/1:111,83:194:99:1939,0,2660	20	0	1	0
chr8	143918210	143918210	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G11569A:p.G3857S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	265905	Inborn_genetic_diseases|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.974	D	0.573	P	0.001	U	0.998	D	2.74	M	-0.73	T	-0.154	T	0.390	T	0.727	0.259	5.401	4.21	2.169	1.571	9.315	0.578	.	0.0009	0.00199681	0.0016	0.0007	0.0010	0.0098	0	0.0012	0.0017	0.0003	0.0011255	174	154602	rs201419047	0.0013	0.0013	0.0013	0.0013	0.0051	0.0013	0.0012	0.0045	0.0043	0.0002	0.0009	0	0.0051	5.441e-05	0.0008	0.0014	0.0011	0.0003	0.0010	0.0010	0.0011	0.0009	0.0066	0.0009	0.0008	0.0048	0.0042	0.0004	0	0.0007	0	0.0066	0	0	0.0012	0.0028	0.0002	0.002	0.72154	D	0.032	0.60337	D	0.974	0.57829	D	0.573	0.49966	P	0.000500	0.43931	U	0.087176	0.998323	0.44771	D	2.295	0.65404	M	-0.73	0.73100	T	-1.92	0.44852	N	0.224	0.30118	-0.1537	0.78825	T	0.390	0.74408	T	10	0.0066138804	0.00150	T	.	.	.	0.578	0.82968	.	.	0.767995865156	0.76587	0.68305954542972	0.68244	.	.	0.489253550768	0.37335	T	0.323239	0.69416	T	-0.181716	0.23480	T	-0.0293742	0.68410	D	0.0216583174307633	0.00871	T	0.952505	0.82627	D	0.023645332	0.01122	0.0634581	0.12572	0.028187621	0.02119	0.07484887	0.16415	-9.356	0.69959	D	0.6242081525451408	0.69291	0.111	0.21503	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.456521	0.31638	18.80	0.88120946569790259	0.17732	0.87986	0.47722	D	AEFDBHCI	0.538553	0.55589	D	0.27108370832694	0.54690	3.633875	0.166203405040766	0.48008	3.02259	0.999999923918294	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.21	4.21	0.48984	1.676000	0.37181	.	.	0.589000	0.31548	0.822000	0.30018	0.993000	0.31925	0.299000	0.24476	0.0:0.8984:0.0:0.1016	9.315	0.37088	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	1	0	0	0	0	1	0	0.02381	1565.98	100	chr8	143918210	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=1620;ExcessHet=0.0000;FS=3.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=-2.280e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1580,0,1138	20	0	1	0
chr8	144511990	144511990	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon19:c.G3314A:p.G1105D,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	0	1463	53	6	0	65	0.0217319	.	.	138890	not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome	MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00359425	0.0054	0.0009	0.0049	0	0.0009	0.0072	0.0078	0.0057	0.0046636	721	154602	rs36078464	0.0054	0.0054	0.0053	0.0056	0.0120	0.0053	0.0053	0.0097	0.0089	0.0008	0.0044	0.0059	0	0.0008	0.0120	0.0060	0.0056	0.0055	0.0038	0.0038	0.0041	0.0036	0.0059	0.0036	0.0035	0.0055	0.0053	0.0010	0	0.0050	0.0037	0	0.0008	0.0136	0.0059	0.0061	0.0048	.	.	.	0.552	0.18125	T	0.024	0.19075	B	0.028	0.21332	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.316	0.35620	.	.	.	.	.	.	.	0.00393191	0.00075	T	.	.	.	.	.	.	.	0.724635435794	0.72219	0.44854050858578554	0.44772	.	.	0.363676905632	0.19920	T	0.00702	0.17042	T	-0.294703	0.09170	T	-0.192929	0.55314	T	.	.	.	0.70353	0.31362	T	0.16268104	0.36360	0.17259818	0.39527	0.15574713	0.35184	0.1975136	0.43536	-5.937	0.45749	T	0.30497957848529705	0.40258	0.135	0.30791	B	.;.;.	.;.;.	1.028931	0.14089	10.66	0.75393395622667547	0.11058	0.35856	0.25399	N	AEFDGBHCI	0.092741	0.18772	N	.	.	.	.	.	.	0.999999938888088	0.74766	0.283894	0.04978	0	0.278934	0.05175	0	0.299256	0.05649	0	0.221052	0.04502	0	.	.	5.32	3.47	0.38831	0.183000	0.16729	0.890000	0.22465	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7099:0.1938:0.0962	8.553	0.32628	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2759.11	82	chr8	144511990	.	C	T	2759.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.472e+00;DP=1654;ExcessHet=0.1072;FS=0.548;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=1.42;SOR=0.620	GT:AD:DP:GQ:PL	0/1:34,52:86:99:1391,0,964	19	0	2	0
chr9	449858	449858	C	T	exonic	DOCK8	.	synonymous SNV	DOCK8:NM_001190458:exon43:c.C5592T:p.N1864N	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	3	1512	7	0	0	7	0.00230947	.	.	737152	Combined_immunodeficiency_due_to_DOCK8_deficiency|Autosomal_recessive_hyper-IgE_syndrome|not_specified	MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|MONDO:MONDO:0957426,MedGen:CN375601,Orphanet:641368|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0001	0	0.0003	0	0	0.0002	0	0	0.0001811	28	154602	rs138617736	0.0004	0.0004	0.0004	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	2.988e-05	0.0002	0	0	0	0.0006	0.0005	0.0004	0	0.0002	0.0002	0.0003	0.0001	0.0005	0.0002	0.0001	0.0003	0.0003	4.812e-05	0	6.536e-05	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	3712.98	38	chr9	449858	.	C	T	3712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1325;ExcessHet=0.0000;FS=2.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-7.930e-01;SOR=0.848	GT:AD:DP:GQ:PL	0/1:154,142:296:99:3727,0,3959	20	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	1/1:1,52,0:53:99:2295,114,0,2298,157,2340	2	5	5	0
chr9	5069050	5069050	G	T	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon8:c.G908T:p.C303F	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	13	1507	1	1	0	3	0.000994365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.999	D	0.972	D	0.000	D	1.000	D	1.36	L	-2.28	D	0.139	D	0.681	D	0.974	2.831	15.43	5.02	2.310	7.590	18.352	0.803	0.191405695874	.	.	8.353e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs757327746	6.907e-06	6.841e-06	6.874e-06	6.941e-06	0.0004	3.49e-06	2.55e-06	6.173e-05	2.551e-05	0	0	3.886e-05	0	0	0.0004	2.715e-06	6.687e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.575	0.08654	T	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.34	0.33385	L	-2.28	0.87512	D	-2.85	0.60029	D	0.691	0.69649	0.139	0.84863	D	0.681	0.88966	D	10	0.87958264	0.87264	D	0.191406	0.86182	D	0.803	0.93582	0.742	0.87401	0.975986362654	0.97572	0.7870126916332401	0.78653	0.824390789739	0.67314	0.742493510246	0.73340	T	0.83259	0.96018	D	0.375455	0.88413	D	0.317024	0.88966	D	0.714070200920105	0.41400	D	0.840516	0.54691	T	0.8655986	0.88516	0.4747647	0.69561	0.8655986	0.88518	0.4747647	0.69561	-7.193	0.55431	T	0.5114252279377938	0.58512	0.585	0.72295	P	.;.	.;.	4.766631	0.77121	26.6	0.97959790497518184	0.37165	0.98026	0.78979	D	AEFBI	0.913662	0.87596	D	0.540037446076716	0.69475	5.362516	0.559906844400817	0.72091	5.755275	0.999999999959681	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.02	5.02	0.66742	7.702000	0.83553	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.352	0.90283	661	0.61838	SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	34	chr9	5069050	.	G	T	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=784;ExcessHet=0.0000;FS=0.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-1.508e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1125,0,983	20	0	1	0
chr9	72836079	72836079	G	C	UTR3	TMC1	NM_138691:c.*106G>C	.	.	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	.	5	1471	41	5	0	51	0.0170398	.	.	319074	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36	MedGen:C3661900|MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0118	0.0018	0.0070	0	0.0400	0.0144	0.0105	0.0055	0.0109313	1690	154602	rs79830675	0.0129	0.0133	0.0132	0.0127	0.0172	0.0127	0.0127	0.0143	0.0140	0.0022	0.0070	0.0053	0	0.0316	0.0172	0.0143	0.0118	0.0042	0.0111	0.0111	0.0096	0.0126	0.0139	0.0106	0.0104	0.0131	0.0128	0.0025	0.0186	0.0084	0.0032	0	0.0418	0.0204	0.0139	0.0090	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	8207.11	73	chr9	72836079	.	G	C	8207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.680e-01;DP=2141;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-7.670e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:177,187:364:99:4248,0,4205	19	0	2	0
chr9	131057055	131057055	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon12:c.C2066T:p.P689L,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	191237	Inborn_genetic_diseases|Occipital_pachygyria_and_polymicrogyria|not_specified|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.523	P	0.344	B	0.000	N	1.000	D	2.3	M	-0.05	T	-0.855	T	0.218	T	0.262	2.690	14.96	0.752	0.113	0.897	5.771	0.139	0.0549193988053	0.0015	0.000399361	0.0006	0.0026	0.0009	0.0010	0	0.0003	0	6.058e-05	0.000511	79	154602	rs113443891	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0005	0.0052	0.0003	0	0.0014	6.025e-05	0.0007	6.956e-05	0.0011	0.0011	0.0012	0.0011	0.0032	0.0010	0.0009	0.0028	0.0026	0.0032	0	0.0006	0.0063	0.0004	0	0	4.41e-05	0.0005	0.0002	0.238	0.17821	T	0.194	0.28120	T	0.523	0.37559	P	0.344	0.42549	B	0.000001	0.62929	N	0.058030	0.999918	0.51042	D	2.285	0.65182	M	-0.05	0.63403	T	-6.24	0.90530	D	0.3	0.33904	-0.8546	0.51648	T	0.218	0.58111	T	10	0.0112422705	0.00247	T	0.054919	0.66037	D	0.139	0.37390	.	.	0.799219371692	0.79734	0.5904426597122575	0.58974	0.326212291116	0.34772	0.454223453999	0.32521	T	0.256934	0.62790	T	-0.409885	0.01991	T	-0.364284	0.37555	T	0.0874252520732733	0.10909	T	0.880912	0.59977	D	0.20331456	0.42406	0.14030047	0.33447	0.20331456	0.42406	0.14030047	0.33446	-7.271	0.55989	T	.	.	0.066	0.02173	B	.	.	2.434687	0.31330	18.71	0.96165887229890878	0.28911	0.26625	0.23047	N	AEFBCI	0.102189	0.20505	N	-0.196561798817418	0.33277	1.886105	-0.253029366104345	0.29667	1.663974	0.999766122908633	0.42728	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.542086	0.14980	0	.	.	4.89	0.752	0.17546	0.919000	0.28312	0.757000	0.21283	0.573000	0.29008	0.045000	0.21207	0.007000	0.19602	0.984000	0.60418	0.1331:0.6343:0.0:0.2327	5.771	0.17517	411	0.82069	Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1006.98	36	chr9	131057055	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=788;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=1.78;SOR=0.593	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1021,0,1164	20	0	1	0
chr9	131061103	131061103	A	G	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon13:c.A2227G:p.N743D,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	359891	Inborn_genetic_diseases|LAMC3-related_disorder|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.476	P	0.405	B	0.000	N	0.728	D	0.975	L	0.15	T	-0.891	T	0.127	T	0.034	-0.190	3.076	3.66	0.706	2.278	6.736	0.143	0.0474985093053	0.0012	0.000199681	0.0003	0.0017	0	0	0	0.0003	0	0	0.0003105	48	154602	rs36030184	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	0.0027	2.236e-05	0.0052	0	0	0.0014	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0008	0.0007	0.0020	0.0006	0.0006	0.0016	0.0015	0.0020	0	0.0001	0.0063	0	0	0	2.941e-05	0	0	0.828	0.02899	T	0.632	0.07150	T	0.476	0.36665	P	0.405	0.44649	B	0.000019	0.62929	N	0.151262	0.727577	0.33683	D	0.32	0.10341	N	0.15	0.60734	T	-2.77	0.58733	D	0.202	0.22357	-0.8910	0.48846	T	0.127	0.43421	T	10	0.014074862	0.00297	T	0.047499	0.62947	D	0.143	0.38195	.	.	0.743718045392	0.74141	0.3551662572859445	0.35430	0.406411375388	0.41517	0.488658607006	0.37251	T	0.097506	0.40039	T	-0.561512	0.00249	T	-0.585825	0.14030	T	0.0747152916828613	0.09297	T	0.673433	0.28201	T	0.26544875	0.49613	0.1791495	0.40631	0.26544875	0.49613	0.1791495	0.40630	-6.441	0.49829	T	.	.	0.107	0.20235	B	.	.	3.093428	0.41662	21.4	0.66119404724584241	0.07966	0.76213	0.37362	D	AEFDGBCI	0.335363	0.43383	N	-0.359915671640983	0.26910	1.472327	-0.301017294039814	0.28067	1.561962	0.999998833359701	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.79	3.66	0.41111	2.280000	0.43103	5.989000	0.52298	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.137000	0.19835	0.8128:0.0:0.1872:0.0	6.736	0.22599	408	0.82256	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1041.98	33	chr9	131061103	.	A	G	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=-1.320e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:18,41:59:99:1056,0,397	20	0	1	0
chr9	131069768	131069768	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon17:c.G2987A:p.R996H,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	428934	not_specified|not_provided|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.208	B	0.075	B	0.001	N	0.738	D	1.605	L	-0.09	T	-0.866	T	0.153	T	0.146	2.596	14.64	1.98	0.455	-0.058	4.706	0.040	0.0213777317512	0.0010	.	0.0007	0.0024	0.0003	0	0	0.0007	0	0	0.0003105	48	154602	rs113785045	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0015	0.0021	4.749e-05	0.0053	0	0	0.0014	4.893e-05	0.0007	2.402e-05	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0	0.0063	0	0	0	2.94e-05	0	0	0.109	0.29288	T	0.162	0.31225	T	0.208	0.29916	B	0.075	0.28327	B	0.001200	0.39899	N	0.217580	0.737723	0.33788	D	1.625	0.41611	L	-0.09	0.64086	T	-2.39	0.52612	N	0.29	0.32812	-0.8662	0.50812	T	0.153	0.48257	T	10	0.020186871	0.00461	T	0.021378	0.44139	T	0.040	0.10527	.	.	0.752969059258	0.75073	0.34906727268766224	0.34820	0.209138445766	0.23382	0.259433120489	0.04824	T	0.087501	0.37956	T	-0.462583	0.00947	T	-0.461873	0.26394	T	0.0255662580769392	0.01347	T	0.734627	0.35069	T	0.05473593	0.10543	0.056546073	0.10123	0.05473593	0.10542	0.056546073	0.10123	-8.415	0.63864	D	.	.	0.064	0.01786	B	.	.	3.097729	0.41735	21.4	0.99498180288995397	0.67859	0.46456	0.27764	N	AEFDBCI	0.250059	0.37017	N	-0.294402600873162	0.29363	1.627718	-0.230348490284835	0.30455	1.714873	0.999970201239958	0.50053	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.99	1.98	0.25351	-0.057000	0.11726	0.320000	0.17174	0.676000	0.76740	0.729000	0.28913	0.936000	0.28664	0.960000	0.51673	0.2499:0.0:0.602:0.1481	4.706	0.12232	390	0.83257	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2723.98	45	chr9	131069768	.	G	A	2723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=941;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.80;SOR=0.567	GT:AD:DP:GQ:PL	0/1:115,111:226:99:2738,0,2681	20	0	1	0
chr9	133568405	133568405	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2007T:p.A669A	Geleophysic dysplasia 1, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	901419	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003234	50	154602	rs372073271	0.0036	0.0036	0.0036	0.0036	0.0110	0.0035	0.0035	0.0088	0.0080	0.0007	0.0028	0.0068	2.538e-05	0.0017	0.0110	0.0040	0.0031	0.0016	0.0029	0.0030	0.0028	0.0031	0.0044	0.0027	0.0026	0.0036	0.0035	0.0012	0	0.0044	0.0063	0.0002	0.0018	0.0136	0.0040	0.0024	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2446.98	33	chr9	133568405	.	C	T	2446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=909;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.855;SOR=0.640	GT:AD:DP:GQ:PL	0/1:99,108:207:99:2461,0,2162	20	0	1	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	.	1	295	703	523	0	1749	0.747755	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3198,318,0	5	7	9	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	.	1265	97	26	134	0	294	0.602459	.	.	322826	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	0/1:6,4:10:82:82,0,139	2	14	5	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P,	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	.	277	416	362	467	0	1296	0.609023	.	.	135501	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:12,17:29:99:510,0,336	3	13	5	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,64,0,0:64:99:1|1:90918983_AATAAATAAATATATATAT_A:2877,195,0,2877,195,2877,2877,195,2877,2877:90918983	3	10	5	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,35:35:99:964,105,0	1	15	5	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,58:141:99:0|1:2159830_T_G:1299,0,3151:2159830	1	12	8	0
chr11	2445094	2445094	T	C	UTR5	KCNQ1	NM_000218:c.-5T>C	.	.	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	.	100	1415	7	0	0	7	0.0024674	.	.	141712	Cardiovascular_phenotype|Congenital_long_QT_syndrome|not_specified|Long_QT_syndrome_1|Short_QT_syndrome_type_2|Jervell_and_Lange-Nielsen_syndrome_1|Atrial_fibrillation,_familial,_3|not_provided	MedGen:CN230736|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN169374|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083|MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647|MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0147	.	.	0	.	0	.	0.0161	0.0002846	44	154602	rs532941548	0.0045	0.0033	0.0045	0.0045	0.0049	0.0044	0.0044	0.0047	0.0047	0.0006	0.0016	0	0	0.0011	0.0015	0.0049	0.0034	0.0033	0.0027	0.0027	0.0029	0.0024	0.0045	0.0025	0.0024	0.0041	0.0039	0.0008	0.0033	0.0015	0	0	0.0014	0	0.0045	0.0058	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	55.04	12	chr11	2445094	.	T	C	55.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.383e+00;DP=219;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:69:69,0,73	20	0	1	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	.	1177	165	27	153	0	333	0.502262	.	.	132617	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8182	5904.27	3	chr11	17276578	.	C	G	5904.27	.	AC=18;AF=0.818;AN=22;DP=148;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4976;MLEAC=26;MLEAF=1.00;MQ=60.00;QD=34.08;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:17276557_A_C:70,6,0:17276557	2	9	0	10
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2123,183,0	3	9	9	0
chr11	17393168	17393168	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2478,216,0	4	6	11	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	445	728	343	0	1414	0.613715	.	.	167548	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	16421.3	35	chr11	17395957	.	A	G	16421.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.977;DP=1002;ExcessHet=0.2144;FS=1.432;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=22.53;ReadPosRankSum=-2.190e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1782,150,0	7	6	8	0
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	16	869	514	123	0	760	0.304243	.	.	1166870	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3380.8	25	chr11	17396823	.	C	A	3380.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-1.127e+00;DP=444;ExcessHet=1.5138;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=19.77;ReadPosRankSum=0.331;SOR=0.351	GT:AD:DP:GQ:PL	0/1:3,8:11:94:267,0,94	12	1	8	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	314	660	541	0	1742	0.735021	.	.	167542	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	19895.14	44	chr11	17408375	.	T	C	19895.14	.	AC=27;AF=0.643;AN=42;BaseQRankSum=-3.920e-01;DP=1066;ExcessHet=0.1361;FS=0.000;InbreedingCoeff=0.2741;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=22.01;ReadPosRankSum=-7.820e-01;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1580,147,0	4	10	7	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	703	213	106	500	0	1106	0.721932	.	.	1166871	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	0/1:8,2:10:36:36,0,298	2	14	4	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	87	248	463	724	0	1911	0.793934	.	.	1166872	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	0/1:16,14:30:99:426,0,470	1	12	8	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	19	213	530	760	0	2050	0.827948	.	.	1166873	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	0/1:27,26:53:99:758,0,801	1	12	8	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	93	473	950	0	2373	0.927315	.	.	1166874	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	0/1:22,29:51:99:746,0,486	1	14	6	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	597	684	234	0	1152	0.491049	.	.	167555	Diabetes_mellitus,_permanent_neonatal_3|Permanent_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Type_2_diabetes_mellitus	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	26398.26	34	chr11	17463424	.	G	A	26398.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.13;DP=1950;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=0.562;SOR=0.708	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2579,0,2483	12	2	7	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	0/1:135,98:233:99:2158,0,3444	2	11	8	0
chr11	47329084	47329084	G	T	exonic	MADD	.	synonymous SNV	MADD:NM_001376663:exon31:c.G4035T:p.S1345S	.	.	393	1107	19	2	1	24	0.0102816	.	.	2413232	MADD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0010	0.0002	0.0005	0	0	0.0003	0.0055	0.0058	0.0008603	133	154602	rs184207033	0.0006	0.0006	0.0004	0.0009	0.0070	0.0006	0.0006	0.0065	0.0063	8.961e-05	0.0006	0	0	0	0.0026	0.0002	0.0007	0.0070	0.0004	0.0004	0.0004	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0	0	0.0006	0	0	0	0.0034	0.0002	0.0019	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.02381	1705.98	38	chr11	47329084	.	G	T	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=914;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.29;SOR=0.621	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1720,0,1839	20	0	1	0
chr11	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q,	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	YES	9	1058	383	72	0	527	0.199395	.	.	18818	not_provided|Oculocutaneous_albinism_type_1|not_specified|Malignant_tumor_of_breast|Albinism|Slow_decrease_in_visual_acuity|Elevated_circulating_hepatic_transaminase_concentration|Foveal_hypoplasia|Choroidal_neovascularization|Abnormality_of_metabolism/homeostasis|Albinism_or_congenital_nystagmus|Autosomal_recessive_ocular_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1B|Tyrosinase-negative_oculocutaneous_albinism|Temperature-sensitive_oculocutaneous_albinism_type_1	MedGen:C3661900|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C1848701|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|.|MONDO:MONDO:0040653,MedGen:C0268503|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.999	D	0.994	D	0.000	D	0.000	P	2.025	M	-4.81	D	-1.761	T	0.001	T	0.836	5.014	29.5	4.68	2.166	7.499	17.625	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.2143	7022.96	56	chr11	89284793	.	G	A	7022.96	.	AC=9;AF=0.214;AN=42;BaseQRankSum=1.32;DP=842;ExcessHet=0.0874;FS=2.143;InbreedingCoeff=0.2929;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.355;SOR=0.553	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2054,189,0	14	2	5	0
chr11	119206289	119206289	-	CGG	upstream	CBL	dist=50	.	.	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	193	969	26	9	325	369	0.0221998	.	.	324725	Noonan-like_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_provided	MedGen:C1834120|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007891	122	154602	rs758396206	0.0749	0.0727	0.0743	0.0754	0.1098	0.0742	0.0739	0.0971	0.0922	0.0454	0.0527	0.1000	0.0298	0.1014	0.1098	0.0775	0.0852	0.0505	0.0822	0.0830	0.0831	0.0812	0.1017	0.0810	0.0805	0.0997	0.0989	0.0514	0.1291	0.0726	0.1182	0.0423	0.1004	0.1586	0.1017	0.0955	0.0619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	1356.41	8	chr11	119206289	.	C	CCGGTGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGG,CCGG	1356.41	.	AC=2,3,1,2,2;AF=0.056,0.083,0.028,0.056,0.056;AN=36;BaseQRankSum=-6.910e-01;DP=244;ExcessHet=0.0120;FS=4.773;InbreedingCoeff=0.3283;MLEAC=2,3,1,2,1;MLEAF=0.056,0.083,0.028,0.056,0.028;MQ=60.00;MQRankSum=0.00;QD=24.66;ReadPosRankSum=0.281;SOR=0.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:8,0,0,0,5,0:13:99:0|1:119206289_C_CCGGTGGCGG:186,210,534,210,534,534,210,534,534,534,0,325,325,325,309,210,534,534,534,325,534:119206289	11	1	0	3
chr11	134253603	134253603	G	T	exonic	ACAD8	.	startloss	ACAD8:NM_014384:exon1:c.G3T:p.M1?,	Isobutyryl-CoA dehydrogenase deficiency	YES	.	.	.	.	.	.	.	.	.	421837	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.049	B	0.016	B	0.034	N	1.000	D	.	.	-4.01	D	0.563	D	0.832	D	0.79	3.733	18.96	5.61	2.645	1.795	12.590	0.491	0.994181855931	.	.	8.104e-05	0	0.0008	0.0008	0	0	0	0	1.29e-05	2	154602	rs751940610	8.382e-06	1.368e-05	9.701e-06	7.042e-06	0.0002	4.47e-06	3.53e-06	0.0001	7.575e-05	0	2.432e-05	0	0.0002	0	0	9.096e-07	1.687e-05	1.207e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	6.86e-05	2.869e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.033664	0.24868	N	0.457306	1	0.81001	D	.	.	.	-4.4	0.97419	D	-0.58	0.17417	N	0.767	0.76481	0.563	0.91412	D	0.832	0.94366	D	9	0.98450315	0.98649	D	0.994182	0.99984	D	0.491	0.77783	0.986	0.99859	0.943284361215	0.94269	0.6206535551178631	0.61998	.	.	.	.	.	0.298382	0.67095	T	0.45214	0.92578	D	0.66	0.99401	D	0.995510816574097	0.87564	D	0.9	0.65058	D	0.95435405	0.96708	0.89949656	0.94940	0.95435405	0.96709	0.89949656	0.94940	-9.867	0.73112	D	.	.	.	.	.	.;.	.;.	2.510174	0.32421	19.04	0.9870771449045872	0.45011	0.34532	0.25090	N	AEFGBHCIJ	0.022632	0.01157	N	-0.417388833971235	0.24859	1.345315	-0.396569910620965	0.25098	1.378	0.999999999999998	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.61	5.61	0.85347	4.122000	0.57661	4.405000	0.43261	0.676000	0.76740	0.648000	0.28154	1.000000	0.68203	0.003000	0.05239	0.0771:0.0:0.9229:0.0	12.590	0.55791	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	134253603	.	G	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.590e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:16,18:34:99:456,0,362	20	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	780	740	2	0	744	0.322917	.	.	266166	not_specified|Hereditary_von_Willebrand_disease|not_provided	MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.3571	3980.38	45	chr12	6018369	.	T	G	3980.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-7.750e-01;DP=996;ExcessHet=17.4423;FS=8.327;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=54.45;MQRankSum=-6.671e+00;QD=5.08;ReadPosRankSum=1.55;SOR=0.332	GT:AD:DP:GQ:PL	0/1:32,9:41:99:107,0,914	6	0	15	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	0	177	7	42	0	91	0.204494	.	.	778118	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,15:15:60:671,60,0	8	11	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	0/1:27,18,0:48:99:290,0,586,409,632,1096	5	2	9	0
chr12	21848259	21848259	T	C	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	175404	Dilated_cardiomyopathy_1O|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type	MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000399361	0.0006	0	0	0	0.0024	0.0009	0.0022	6.074e-05	0.0005433	84	154602	rs184123387	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0005	0.0004	3e-05	6.717e-05	0.0001	0	0.0032	0.0010	0.0004	0.0003	2.321e-05	0.0005	0.0005	0.0003	0.0007	0.0005	0.0004	0.0004	0.0003	0.0003	4.813e-05	0	0	0	0	0.0042	0	0.0005	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	34	chr12	21848259	.	T	C	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.256e+00;DP=788;ExcessHet=0.0000;FS=4.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.526e+00;SOR=0.378	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1242,0,991	20	0	1	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:24,5,0:29:45:45,0,527,117,542,658	3	0	16	0
chr12	32796167	32796167	G	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon11:c.C2299A:p.R767S	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	.	2	1503	15	2	0	19	0.00628099	.	.	54235	Familial_isolated_arrhythmogenic_right_ventricular_dysplasia|Arrhythmogenic_right_ventricular_dysplasia_9|not_specified|PKP2-related_disorder|not_provided|Long_QT_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.434	B	0.219	B	0.004	N	1.000	D	2.585	M	0.78	T	-0.636	T	0.201	T	0.85	3.477	17.80	5.06	2.508	3.303	17.583	0.257	0.0993497817025	0.0004	0.000599042	0.0009	9.61e-05	0.0010	0	0	0.0012	0.0066	0.0006	0.000815	126	154602	rs139734328	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0008	0.0055	0.0049	0.0002	0.0008	0.0088	0	5.616e-05	0.0073	0.0007	0.0014	0.0006	0.0007	0.0007	0.0009	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	0.0001	0	0.0009	0.0081	0	0	0.0068	0.0008	0.0024	0.0008	0.008	0.63226	D	0.024	0.58089	D	0.267	0.35666	B	0.219	0.37734	B	0.003870	0.34390	N	0.241969	0.999853	0.49910	D	2.98	0.85499	M	0.78	0.49358	T	-3.22	0.64939	D	0.807	0.80278	-0.6358	0.63324	T	0.201	0.55794	T	10	0.020314664	0.00466	T	0.09935	0.77093	D	0.257	0.56827	.	.	0.727649319239	0.72523	0.5871319377748647	0.58643	0.537282136197	0.51035	0.515904903412	0.41050	T	0.573089	0.85897	D	-0.098817	0.36622	T	0.0232861	0.71843	D	0.0884483553174462	0.11032	T	0.786621	0.44603	T	0.34008333	0.56286	0.30969483	0.56983	0.39117417	0.60116	0.28971195	0.54991	-7.296	0.56167	T	0.4663457836462882	0.54761	0.482	0.67744	A	.;.	.;.	3.374374	0.46641	22.3	0.99531087898468584	0.69901	0.81649	0.41011	D	AEFGBI	0.714945	0.66726	D	0.238149991971774	0.53055	3.476272	0.304818569648226	0.55822	3.745053	0.99977898604337	0.42865	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.06	5.06	0.67838	3.692000	0.54460	6.332000	0.55462	0.671000	0.69459	0.919000	0.31930	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.583	0.87871	714	0.56256	.;.	.	.	.	.	.	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	0.04762	3508.11	35	chr12	32796167	.	G	T	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1068;ExcessHet=0.1072;FS=0.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.27;SOR=0.663	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1541,0,1320	19	0	2	0
chr12	32896830	32896830	A	G	upstream	PKP2	dist=53	.	.	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	.	414	1106	2	0	0	2	0.000903342	.	.	332175	not_provided|Arrhythmogenic_right_ventricular_dysplasia_9	MedGen:C3661900|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs565997897	0.0012	0.0008	0.0011	0.0013	0.0040	0.0011	0.0011	0.0018	0.0012	0.0002	0.0007	0.0138	0	4.545e-05	0.0040	0.0009	0.0015	0.0008	0.0010	0.0010	0.0013	0.0008	0.0012	0.0009	0.0009	0.0010	0.0009	0.0002	0	0.0004	0.0165	0	0	0.0069	0.0012	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	87.02	15	chr12	32896830	.	A	G	87.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e+00;DP=335;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-5.140e-01;SOR=0.250	GT:AD:DP:GQ:PL	0/1:5,5:10:99:101,0,147	20	0	1	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L,	Bardet-Biedl syndrome 10, Autosomal recessive	.	4	1146	322	50	0	422	0.15549	.	.	177141	not_specified|not_provided|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_10	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.788	N	1.000	N	1.355	L	-1.87	D	-0.939	T	0.062	T	0.044	-1.423	0.021	0.792	0.038	0.335	8.240	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.1667	14060.55	34	chr12	76346369	.	G	A	14060.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.237;DP=1596;ExcessHet=2.5830;FS=0.521;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.628;SOR=0.773	GT:AD:DP:GQ:PL	0/1:102,77:179:99:1995,0,2661	14	0	7	0
chr12	88125343	88125343	A	C	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon13:c.T1092G:p.I364M,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	286	1232	3	1	0	5	0.00202511	.	.	265487	not_specified|CEP290-related_disorder|Retinitis_pigmentosa|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Kidney_disorder|Stuve-Wiedemann_syndrome_2|not_provided|Inborn_genetic_diseases|Leber_congenital_amaurosis|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Nephronophthisis|Meckel_syndrome,_type_4|Leber_congenital_amaurosis_10|Joubert_syndrome_5	MedGen:CN169374|MedGen:CN239314|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0030756,MedGen:C5676919,OMIM:619751|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	0.49	T	-0.638	T	0.243	T	0.673	3.643	18.52	4.29	2.047	3.404	3.302	0.213	0.0326795713933	0.0002	0.00139776	0.0020	0	0	0	0	0.0010	0	0.0048	0.0005433	84	154602	rs201988582	0.0005	0.0006	0.0004	0.0006	0.0039	0.0005	0.0005	0.0028	0.0026	0	0.0004	0	3.542e-05	4.588e-05	0.0039	0.0004	0.0007	0.0032	0.0007	0.0006	0.0006	0.0007	0.0031	0.0005	0.0005	0.0019	0.0015	7.223e-05	0	0.0006	0	0.0004	0	0.0034	0.0010	0.0019	0.0031	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000014	0.62929	D	0.065902	0.99591	0.81001	D	2.42	0.70002	M	0.49	0.55775	T	-1.54	0.37375	N	0.802	0.84817	-0.6385	0.63209	T	0.243	0.61107	T	10	0.008333027	0.00189	T	0.03268	0.54438	D	0.213	0.50496	.	.	0.695477304189	0.69285	0.4610457371032954	0.46022	0.346408278094	0.36549	0.644531369209	0.59209	T	0.445526	0.78851	T	-0.221924	0.17733	T	-0.0933447	0.63909	T	0.0596651804224956	0.07115	T	0.889011	0.64401	D	0.41751882	0.61926	0.28417474	0.54414	0.41751882	0.61927	0.28417474	0.54413	-7.24	0.55768	T	0.7060571792666084	0.78568	0.211	0.43949	B	.;.;.;.	.;.;.;.	3.831699	0.55391	23.6	0.99641056332275402	0.76695	0.81923	0.41233	D	AEFGBI	0.321190	0.42406	N	0.594676514247452	0.72841	5.869719	0.565332388512811	0.72470	5.815016	0.221793946323817	0.18363	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.43	4.29	0.50359	3.499000	0.53071	3.933000	0.40549	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6476:0.0:0.1609:0.1915	3.302	0.06577	842	0.36989	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	323.98	34	chr12	88125343	.	A	C	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=659;ExcessHet=0.0000;FS=2.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-6.210e-01;SOR=1.244	GT:AD:DP:GQ:PL	0/1:24,15:39:99:338,0,507	20	0	1	0
chr12	111599175	111599175	G	A	UTR5	ATXN2	NM_001372574:c.-141C>T;NM_002973:c.-141C>T	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	19	1500	3	0	0	3	0.000999001	.	.	2334330	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.752	N	1.000	N	0.895	L	-0.12	T	-1.019	T	0.141	T	0.136	1.534	11.08	-0.535	-0.087	0.623	3.668	0.190	0.24167928506	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975981325	0.0002	0.0001	0.0001	0.0002	0.0061	0.0002	0.0001	0.0039	0.0035	0.0045	0.0003	0	0	0	0.0061	4.092e-05	0.0006	0	0.0004	0.0004	0.0005	0.0004	0.0014	0.0004	0.0003	0.0011	0.0010	0.0014	0	6.606e-05	0	0	0	0.0035	2.969e-05	0.0019	0	0.132	0.26519	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.752421	0.09689	N	0.829636	0.999964	0.52935	D	0	0.06538	N	-0.12	0.67712	T	0.0	0.12099	N	0.074	0.09490	-1.0187	0.24139	T	0.141	0.46128	T	9	0.04608491	0.03756	T	0.241679	0.88727	D	0.190	0.46781	0.13	0.03494	0.143184338766	0.13958	0.2825243396837174	0.28165	0.370357292695	0.38561	0.840588569641	0.88183	D	0.066397	0.32934	T	-0.335639	0.05696	T	-0.362415	0.37772	T	0.0777582706363877	0.09698	T	0.50325	0.15827	T	0.03605826	0.04362	0.06621618	0.13534	0.03605826	0.04362	0.06621618	0.13534	-4.075	0.24920	T	.	.	0.068	0.03407	B	.;.	.;.	1.195091	0.15865	12.16	0.97789204068928359	0.35989	0.08442	0.14370	N	AEFDBHCIJ	0.044507	0.07168	N	-1.02190477221123	0.08150	0.3811444	-1.08097277028871	0.08075	0.3954683	0.999998200660673	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	3.28	-0.535	0.11286	0.287000	0.18678	1.828000	0.29093	0.542000	0.25261	0.001000	0.13787	1.000000	0.68203	0.014000	0.10232	0.3371:0.2032:0.4597:0.0	3.668	0.07798	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	138.98	10	chr12	111599175	.	G	A	138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=537;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.62;ReadPosRankSum=0.975;SOR=0.582	GT:AD:DP:GQ:PL	0/1:15,6:21:99:153,0,571	20	0	1	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	.	183	10	1	20	12	53	0.672131	.	.	329647	not_provided|Ulnar-mammary_syndrome|TBX3-related_disorder	MedGen:C3661900|MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4085.46	8	chr12	114684071	.	G	GGAGA,GGAGAGA	4085.46	.	AC=6,1;AF=0.333,0.056;AN=18;BaseQRankSum=0.319;DP=165;ExcessHet=0.0000;FS=7.176;InbreedingCoeff=0.5181;MLEAC=10,2;MLEAF=0.556,0.111;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=-3.190e-01;SOR=0.400	GT:AD:DP:GQ:PL	0/1:1,3,0:4:33:123,0,33,126,42,168	5	2	1	12
chr12	114684071	114684071	-	GAGAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTCTC;NM_005996:c.-872_-871insTCTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	.	183	10	1	20	12	53	0.672131	.	.	329649	not_provided|Ulnar-mammary_syndrome	MedGen:CN517202|MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs112192237	0.0310	0.0059	0.0302	0.0318	0.0462	0.0299	0.0295	0.0388	0.0361	0.0227	0.0462	0.0605	0.0307	0.0172	0.0222	0.0287	0.0279	0.0097	0.0276	0.0278	0.0275	0.0277	0.0518	0.0269	0.0266	0.0488	0.0476	0.0145	0.0905	0.0518	0.0628	0.0440	0.0218	0.0176	0.0276	0.0341	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4085.46	8	chr12	114684071	.	G	GGAGA,GGAGAGA	4085.46	.	AC=6,1;AF=0.333,0.056;AN=18;BaseQRankSum=0.319;DP=165;ExcessHet=0.0000;FS=7.176;InbreedingCoeff=0.5181;MLEAC=10,2;MLEAF=0.556,0.111;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=-3.190e-01;SOR=0.400	GT:AD:DP:GQ:PL	0/1:1,3,0:4:33:123,0,33,126,42,168	5	2	1	12
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1344,0,1592	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|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	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	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	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1251,0,1725	5	6	10	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	0/1:87,58:145:99:1288,0,2187	4	6	11	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15991.24	33	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	15991.24	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.33;DP=861;ExcessHet=0.0204;FS=5.516;InbreedingCoeff=0.4273;MLEAC=20;MLEAF=0.476;MQ=59.96;MQRankSum=0.00;QD=32.77;ReadPosRankSum=0.809;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,12:24:99:.:.:460,0,466	8	7	6	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,4:40:32:.:.:1436,32,187,1462,196,1611,1377,0,1439,1425	2	3	7	0
chr13	24892884	24892885	AC	-	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	.	141	1131	185	50	15	300	0.111896	.	.	334164	Seckel_syndrome|not_provided|Primary_Microcephaly,_Recessive	MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN239428	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1854	.	0.0168	0.0165	0.0150	0.0025	0.0166	0.0220	0.0247	0.0112	0.0004226	11	26028	rs1491571085	0.0158	0.0295	0.0161	0.0155	0.0177	0.0156	0.0155	0.0174	0.0173	0.0173	0.0081	0.0224	0.0004	0.0122	0.0118	0.0177	0.0141	0.0102	0.0114	0.0124	0.0112	0.0116	0.0230	0.0108	0.0106	0.0216	0.0211	0.0230	0	0.0089	0.0215	0.0004	0.0015	0.0049	0.0036	0.0119	0.0107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	244.0	30	chr13	24892883	.	AAC	*,A	244.0	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=1.37;DP=693;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3549;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=-8.970e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,10,0:35:99:.:.:427,0,786,387,837,1201	10	0	10	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	.	26	775	566	155	0	876	0.361088	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11312.51	41	chr14	23419114	.	T	TG	11312.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.730e-01;DP=1170;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.01;ReadPosRankSum=0.641;SOR=0.688	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1574,0,1137	14	0	7	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	0	1466	55	1	0	57	0.0190699	0	0	186196	Hereditary_spastic_paraplegia|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|ZFYVE26-related_disorder	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.045	B	0.122	B	0.009	N	1.000	D	0	N	1.86	T	-1.073	T	0.038	T	0.235	1.553	11.15	4.75	1.039	1.476	10.034	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1193.98	34	chr14	67805304	.	C	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.169;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-3.390e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1208,0,1606	20	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24	Machado-Joseph disease, Autosomal dominant	.	98	926	380	118	0	616	0.249595	.	.	390136	not_specified|not_provided|ATXN3-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	15824.71	66	chr14	92071009	.	C	CG	15824.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.151e+00;DP=1672;ExcessHet=0.7800;FS=1.838;InbreedingCoeff=-0.0717;MLEAC=14;MLEAF=0.412;MQ=59.16;MQRankSum=0.00;QD=20.52;ReadPosRankSum=0.215;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,42:86:99:0|1:92071009_C_CG:1465,0,1572:92071009	7	2	8	4
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	23	1096	320	83	0	486	0.181479	.	.	505595	DICER1-related_tumor_predisposition|not_specified|not_provided	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2716.06	13	chr14	95115562	.	G	A	2716.06	.	AC=9;AF=0.214;AN=42;BaseQRankSum=0.489;DP=319;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0090;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=21.90;ReadPosRankSum=-6.350e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:9,13:22:99:483,0,310	13	1	7	0
chr15	48784114	48784114	T	C	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon10:c.A1180G:p.I394V	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	2	1506	14	0	0	14	0.00462657	.	.	169168	Microcephaly_9,_primary,_autosomal_recessive|CEP152-related_disorder|not_provided|Seckel_syndrome_5|not_specified	MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512|MedGen:CN239248|MedGen:C3661900|MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.018	B	0.007	B	0.057	N	1.000	N	1.05	L	-1.13	T	-0.966	T	0.168	T	0.07	-0.644	1.159	-1.79	-0.233	-0.235	0.303	0.115	0.0146603056174	0.0026	0.00119808	0.0025	0.0005	0.0021	0.0001	0.0005	0.0037	0.0012	0.0013	0.002238	346	154602	rs181295720	0.0029	0.0029	0.0028	0.0030	0.0078	0.0028	0.0028	0.0060	0.0054	0.0005	0.0022	0.0077	2.521e-05	0.0002	0.0078	0.0032	0.0034	0.0018	0.0021	0.0021	0.0022	0.0020	0.0032	0.0019	0.0018	0.0028	0.0027	0.0008	0	0.0024	0.0058	0.0002	0.0003	0.0034	0.0032	0.0033	0.0006	0.293	0.15458	T	0.224	0.25591	T	0.018	0.17786	B	0.005	0.11217	B	0.057372	0.22486	N	0.475067	0.999949	0.19238	N	0.82	0.20857	L	-1.13	0.77719	T	-0.06	0.10480	N	0.1	0.10626	-0.9661	0.37994	T	0.168	0.50810	T	10	0.0050874054	0.00110	T	0.01466	0.34921	T	0.115	0.32236	.	.	0.522664700966	0.51911	0.01812364532612605	0.01766	0.0548285271129	0.06069	0.27352976799	0.06606	T	0.00365	0.03060	T	-0.510894	0.00496	T	-0.509062	0.21412	T	0.00124863064896183	0.00012	T	0.538946	0.18179	T	0.015520716	0.00143	0.021870522	0.00225	0.01575336	0.00156	0.025765443	0.00633	-3.654	0.21553	T	0.16547279795631945	0.20515	0.079	0.07083	B	.;.;.	.;.;.	0.796378	0.11666	8.252	0.58992043625958013	0.06120	0.10870	0.16249	N	AEFBI	0.063014	0.12150	N	-1.50543333649249	0.01814	0.07950455	-1.5000994802889	0.02344	0.107669	0.628981633488429	0.21951	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.35	-1.79	0.07504	-0.257000	0.08765	-0.299000	0.10130	-0.718000	0.03832	0.002000	0.15269	0.000000	0.08366	0.762000	0.36218	0.2147:0.2372:0.202:0.346	0.303	0.00256	261	0.89765	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	33	chr15	48784114	.	T	C	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=763;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.00;SOR=1.056	GT:AD:DP:GQ:PL	0/1:34,33:67:99:816,0,805	20	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	26	0	7	1489	0	2985	1	0	0	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4557,473,0	0	21	0	0
chr15	72345476	72345476	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1496A:p.R499H	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	18938	Gm2-gangliosidosis,_juvenile|Tay-Sachs_disease|not_provided|Inborn_genetic_diseases	MedGen:C0268276|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.52	H	-4.53	D	1.086	D	0.971	D	0.978	5.220	33	5.71	2.709	4.215	19.868	0.892	0.250417958122	.	.	7.415e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs121907956	7.183e-05	7.182e-05	6.534e-05	7.838e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.205e-05	1.656e-05	0.0004	3.284e-05	3.283e-05	6.422e-05	0	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.705	0.94653	H	-4.53	0.97713	D	-4.64	0.79316	D	0.981	0.99670	1.086	0.99097	D	0.971	0.99102	D	9	0.9543921	0.94791	D	0.250418	0.89090	D	0.892	0.96910	.	.	0.994230711063	0.99416	0.9696749151766246	0.96955	0.838673171438	0.67938	0.494319111109	0.38038	T	0.962685	0.99531	D	0.36715	0.87805	D	0.594157	0.96934	D	0.992381036281586	0.82850	D	0.90121	0.65680	D	0.8408219	0.86667	0.6666385	0.80451	0.83979577	0.86595	0.6963891	0.82123	-10.643	0.77665	D	0.8586115139022448	0.92272	0.785	0.76596	P	.;.;.	.;.;.	4.934956	0.81390	27.5	0.99868851275574999	0.94637	0.98812	0.87175	D	AEFBI	0.797319	0.72419	D	0.637878631067833	0.75587	6.332277	0.472149093174774	0.66149	4.914913	0.999999999982387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.557000	0.81197	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.868	0.96822	201	0.92177	.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2873.98	34	chr15	72345476	.	C	T	2873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1316;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.036;SOR=0.565	GT:AD:DP:GQ:PL	0/1:147,121:268:99:2888,0,3476	20	0	1	0
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	YES	1079	356	30	57	0	144	0.168224	.	.	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	473.7	45	chr15	78513681	.	T	C	473.7	.	AC=7;AF=0.269;AN=26;BaseQRankSum=0.967;DP=45;ExcessHet=0.0379;FS=2.769;InbreedingCoeff=0.1191;MLEAC=10;MLEAF=0.385;MQ=60.00;MQRankSum=0.00;QD=29.61;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0	8	2	3	8
chr15	99973383	99973388	TGGGCT	-	UTR3	ADAMTS17	NM_139057:c.*1019_*1014delAGCCCA	.	.	Weill-Marchesani-like syndrome, Autosomal recessive	.	1266	160	13	83	0	179	0.358717	.	.	340315	Weill-Marchesani_4_syndrome,_recessive|not_provided	MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58726	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs11277519	0.5667	0.0244	0.3750	0.6364	1.0000	0.3611	0.2965	0.2935	0.2192	1.0000	.	0.5000	.	0.5000	.	0.5625	0.5000	.	0.6338	0.6351	0.6333	0.6342	0.6580	0.6304	0.6290	0.6529	0.6507	0.6083	0.6834	0.5772	0.6358	0.5174	0.7472	0.5310	0.6580	0.5885	0.5808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	409.14	68	chr15	99973382	.	CTGGGCT	C	409.14	.	AC=8;AF=0.364;AN=22;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5254;MLEAC=11;MLEAF=0.500;MQ=60.00;QD=35.29;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	7	4	0	10
chr16	1210783	1210783	G	A	intronic	CACNA1H	.	.	.	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	0	0.02	464970	not_provided|CACNA1H-related_disorder|Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MedGen:C3661900|.|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.00119808	0.0032	0.0003	0.0019	0.0001	0	0.0045	0.0048	0.0036	0.0028784	445	154602	rs57315342	0.0035	0.0035	0.0034	0.0036	0.0120	0.0035	0.0034	0.0097	0.0089	0.0005	0.0019	0.0327	5.041e-05	0.0001	0.0120	0.0031	0.0047	0.0037	0.0029	0.0029	0.0031	0.0027	0.0043	0.0027	0.0026	0.0031	0.0030	0.0006	0	0.0022	0.0331	0.0002	9.409e-05	0.0136	0.0035	0.0047	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1212.98	53	chr16	1210783	.	G	A	1212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.963;DP=1028;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-5.100e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1227,0,1063	20	0	1	0
chr16	2295736	2295736	G	A	exonic	ABCA3	.	synonymous SNV	ABCA3:NM_001089:exon18:c.C2268T:p.A756A,	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	.	1	1491	30	0	0	30	0.00996016	.	.	324659	Hereditary_pulmonary_alveolar_proteinosis|Interstitial_lung_disease_due_to_ABCA3_deficiency|not_provided	MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675|MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000599042	0.0016	0.0004	0.0015	0	0	0.0022	0.0055	0.0017	0.0016106	249	154602	rs143552557	0.0014	0.0014	0.0014	0.0015	0.0076	0.0014	0.0014	0.0058	0.0052	0.0002	0.0022	0.0078	2.519e-05	0.0002	0.0076	0.0014	0.0019	0.0012	0.0016	0.0016	0.0015	0.0017	0.0046	0.0014	0.0014	0.0038	0.0035	0.0003	0.0033	0.0046	0.0109	0	9.413e-05	0.0034	0.0015	0.0028	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	1	0	0	1	0.02381	1371.98	33	chr16	2295736	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=779;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=0.661;SOR=0.881	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1386,0,706	20	0	1	0
chr16	3602235	3602235	C	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon4:c.G833A:p.R278Q,	Fanconi anemia, complementation group P, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	465722	not_provided|Fanconi_anemia_complementation_group_P|Fanconi_anemia	MedGen:C3661900|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	.	.	.	.	.	.	.	.	1	T	0.009	B	0.004	B	0.534	N	1.000	N	0.09	N	5.12	T	-0.927	T	0.002	T	0.021	-0.773	0.750	-5.38	-1.037	0.298	5.120	0.024	0.0343296478226	7.7e-05	0.000399361	0.0007	0	0.0003	0	0	0.0003	0.0033	0.0038	0.0005757	89	154602	rs201192909	0.0003	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0032	0.0031	8.961e-05	0.0002	0	2.519e-05	0	0.0014	0.0001	0.0003	0.0035	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0018	0.0014	0	0	6.535e-05	0	0.0004	0	0	0.0002	0.0009	0.0029	0.916	0.02332	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.534142	0.11606	N	0.801221	1	0.08975	N	0	0.06538	N	5.12	0.01218	T	0.33	0.03889	N	0.122	0.11340	-0.9271	0.44559	T	0.002	0.00676	T	10	0.006465614	0.00146	T	0.03433	0.55601	D	0.024	0.04979	.	.	0.0611884634855	0.05136	0.07861405720206786	0.07796	0.062198665946	0.06926	0.205301433802	0.00627	T	0.024544	0.18527	T	-0.723764	0.00026	T	-0.813886	0.01580	T	0.0050743166769389	0.00055	T	0.493751	0.15260	T	0.0105818305	0.00008	0.01879076	0.00066	0.0105818305	0.00008	0.01879076	0.00066	-2.72	0.07472	T	.	.	0.075	0.05535	B	.	.	1.334857	0.17408	13.14	0.77479374053069294	0.11893	0.03841	0.09191	N	AEFDBI	0.025755	0.01818	N	-1.56585813496365	0.01444	0.0629978	-1.54202199592195	0.02032	0.09285101	0.0137463962226935	0.12505	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.83	-5.38	0.02465	0.266000	0.18300	.	.	-1.584000	0.00915	0.467000	0.26699	0.005000	0.19230	0.033000	0.13494	0.0958:0.1686:0.0971:0.6385	5.120	0.14187	588	0.69043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.98	34	chr16	3602235	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.996;SOR=0.726	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2312,0,2134	20	0	1	0
chr16	3657256	3657256	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon7:c.C619T:p.R207C	.	.	420	1096	6	0	0	6	0.00272975	.	.	247118	not_provided|not_specified|Systemic_lupus_erythematosus	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	1.15	T	0.826	D	0.791	D	0.922	4.417	23.4	5.07	2.364	4.555	17.470	0.598	.	0.0011	0.00359425	0.0013	0.0017	0.0011	0.0007	0.0002	0.0007	0.0111	0.0034	0.0012354	191	154602	rs148373909	0.0013	0.0013	0.0011	0.0014	0.0034	0.0012	0.0012	0.0031	0.0029	0.0029	0.0011	3.826e-05	0.0006	0.0002	0.0028	0.0012	0.0014	0.0034	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0023	0	0.0022	0	0.0002	0	0.0068	0.0012	0.0028	0.0050	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-1.56	0.81815	D	-7.9	0.96191	D	0.586	0.60664	0.826	0.94733	D	0.791	0.92931	D	10	0.023278147	0.00604	T	.	.	.	0.598	0.84074	.	.	0.891967515596	0.89089	0.9168392154333195	0.91658	0.0304920833542	0.03150	0.562246441841	0.47584	T	0.843099	0.96358	D	0.105533	0.64884	D	0.377025	0.91322	D	0.204867696822105	0.20682	T	0.933907	0.79612	D	0.89757496	0.91167	0.7094225	0.82862	0.89757496	0.91169	0.7094225	0.82863	-11.092	0.80160	D	.	.	0.271	0.51262	B	.;.;.;.	.;.;.;.	5.215172	0.87515	29.3	0.99934680761057881	0.99535	0.90920	0.52512	D	AEFDGBHCI	0.697500	0.65549	D	0.794916553693268	0.85786	8.681413	0.690688715814908	0.81669	7.581621	0.999999999999995	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	4.414000	0.59555	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.470	0.87538	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3050.11	36	chr16	3657256	.	C	T	3050.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=917;ExcessHet=0.1072;FS=0.491;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.594;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1586,0,1178	19	0	2	0
chr16	15725150	15725150	C	A	UTR3	NDE1	NM_001143979:c.*899C>A;NM_017668:c.*899C>A	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	154	1238	45	15	70	145	0.0294002	.	.	324455	not_provided|Aortic_aneurysm,_familial_thoracic_4|Lissencephaly,_Recessive|Lissencephaly_4	MedGen:C3661900|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:CN239458|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140974	.	.	.	.	.	.	.	.	0.000461	12	26028	rs79015533	0.0957	0.0667	0.0953	0.0961	0.1452	0.0949	0.0945	0.1390	0.1365	0.1452	0.0530	0.0887	0.0802	0.0853	0.0694	0.0990	0.1044	0.0956	0.1110	0.1127	0.1142	0.1077	0.1506	0.1096	0.1090	0.1473	0.1459	0.1506	0.1333	0.0728	0.0914	0.0828	0.0719	0.0863	0.1073	0.1103	0.0984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	7408.73	51	chr16	15725150	.	C	A,*	7408.73	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.24;DP=1700;ExcessHet=0.1217;FS=8.174;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=2.15;SOR=1.199	GT:AD:DP:GQ:PL	0/1:97,80,0:177:99:1616,0,2309,1585,2506,4188	16	0	4	0
chr16	15823292	15823292	G	A	exonic	MYH11	.	synonymous SNV	MYH11:NM_001040113:exon3:c.C465T:p.Y155Y	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	342175	Aortic_aneurysm,_familial_thoracic_4|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs145810355	1.847e-05	1.847e-05	2.722e-05	9.625e-06	2.428e-05	1.265e-05	1.084e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	0	0	6.57e-06	6.567e-06	1.284e-05	0	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1773.98	33	chr16	15823292	.	G	A	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.264;DP=837;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-4.760e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1788,0,1416	20	0	1	0
chr16	50722863	50722863	C	T	intronic	NOD2	.	.	.	Blau syndrome, Autosomal dominant	.	16	1252	227	27	0	281	0.100898	.	.	19736	not_provided|Blau_syndrome|Autoinflammatory_syndrome|Inflammatory_bowel_disease_1|Yao_syndrome	MedGen:C3661900|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0517173	.	.	.	.	.	.	.	.	0.129207	3363	26028	rs5743289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1091	0.1091	0.1147	0.1032	0.1748	0.1077	0.1071	0.1721	0.1710	0.0313	0.1568	0.1115	0.1343	0.0008	0.0590	0.1190	0.1748	0.1409	0.0295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	488.73	11	chr16	50722863	.	C	T	488.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.33;DP=274;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.596;SOR=0.997	GT:AD:DP:GQ:PL	0/1:9,9:18:99:305,0,234	18	0	3	0
chr16	67660249	67660249	G	C	UTR5	ACD	NM_022914:c.-29C>G;NM_001082486:c.-29C>G	.	.	.	.	.	.	.	.	.	.	.	.	.	949477	Dyskeratosis_congenita,_autosomal_dominant_6|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.001	B	0.000	N	1.000	N	0.345	N	1.18	T	-0.901	T	0.047	T	0.167	-0.556	1.486	-8.91	-7.519	-4.444	9.774	0.063	0.0100666758432	.	.	6.985e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs534010648	5.753e-05	5.746e-05	3.816e-05	7.709e-05	0.0008	4.748e-05	4.371e-05	0.0007	0.0006	0	0	0	0	0	0	1.079e-05	1.657e-05	0.0008	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0008	.	.	.	0.14	0.33554	T	0.0	0.07471	B	0.0	0.04355	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.079	0.05414	-0.9011	0.47878	T	0.047	0.20116	T	10	0.020097196	0.00458	T	0.010067	0.26169	T	.	.	0.305	0.27485	0.340273420219	0.33633	0.12348450798558878	0.12274	.	.	0.347162544727	0.17504	T	0.183253	0.53553	T	-0.536988	0.00349	T	-0.648328	0.09071	T	0.0957281094473814	0.11881	T	0.226877	0.03008	T	0.09138925	0.21413	0.0879071	0.20463	0.09138925	0.21413	0.0879071	0.20462	.	.	.	.	.	0.058	0.00636	B	.;.	.;.	-1.387126	0.00370	0.007	0.48078557955505563	0.03983	0.01376	0.04691	N	ALL	0.128478	0.24626	N	-2.89080601459651	0.00001	8.364624e-05	-3.00321897925474	0.00001	6.880652e-05	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.46	-8.91	0.00669	-5.634000	0.00130	-12.825000	0.00498	-3.655000	0.00068	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0646:0.3237:0.5346:0.0772	9.774	0.39777	42	0.97857	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	35	chr16	67660249	.	G	C	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=847;ExcessHet=0.0000;FS=4.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=0.567;SOR=1.172	GT:AD:DP:GQ:PL	0/1:61,42:103:99:996,0,1429	20	0	1	0
chr16	81096282	81096282	C	A	UTR5	GCSH	NM_004483:c.-4G>T	.	.	Glycine encephalopathy, Autosomal recessive	.	48	1134	338	2	0	342	0.131034	.	.	797414	not_provided|GCSH-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1306	.	0.125	.	.	0.2	0	0.13	3.84e-05	1	26028	rs779613867	0.0530	0.1491	0.0569	0.0490	0.0617	0.0525	0.0523	0.0611	0.0608	0.0419	0.0274	0.0224	0.0065	0.0052	0.0352	0.0617	0.0371	0.0404	0.0003	0.0025	0.0004	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0.0002	0.0011	0.0002	0	0.0006	0.0009	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	317.98	34	chr16	81096282	.	C	A	317.98	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.866e+00;DP=634;ExcessHet=2.5830;FS=1.133;InbreedingCoeff=-0.2045;MLEAC=7;MLEAF=0.167;MQ=49.85;MQRankSum=-2.506e+00;QD=0.98;ReadPosRankSum=-1.501e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:8,2:10:19:19,0,212	14	0	7	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D	Combined malonic and methylmalonic aciduria	YES	0	1508	14	0	0	14	0.00462046	.	.	375624	not_specified|not_provided|Combined_malonic_and_methylmalonic_acidemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.984	D	2.545	M	-0.61	T	0.288	D	0.599	D	0.917	3.446	17.67	4.69	2.155	2.763	9.515	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr16	89145370	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.883e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1346,0,1453	20	0	1	0
chr16	89280430	89280430	T	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A6112G:p.K2038E	KBG syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	439074	ANKRD11-related_disorder|KBG_syndrome|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.488	P	0.037	B	0.001	N	1.000	D	0.975	L	0.98	T	-1.052	T	0.077	T	0.442	2.661	14.86	5.29	2.002	5.577	14.915	0.163	0.02266763446	0.0005	0.000798722	0.0007	0.0004	0.0001	0	0	0.0006	0	0.0023	0.0003946	61	154602	rs200724087	0.0009	0.0009	0.0008	0.0009	0.0022	0.0008	0.0008	0.0019	0.0018	6.153e-05	0.0001	0.0028	0	0	0.0006	0.0008	0.0008	0.0022	0.0005	0.0005	0.0006	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0003	0	0.0003	0.0017	0	0	0	0.0007	0.0009	0.0023	0.008	0.58626	D	0.256	0.23298	T	0.488	0.36905	P	0.037	0.23121	B	0.001030	0.40562	N	0.170984	0.946972	0.37549	D	2.445	0.70938	M	0.98	0.42122	T	-0.88	0.23808	N	0.448	0.55366	-1.0522	0.13790	T	0.077	0.30676	T	10	0.006870091	0.00156	T	0.022668	0.45580	T	0.163	0.42028	.	.	0.494135641928	0.49047	0.32866577432199484	0.32779	0.167050499387	0.18843	0.395347297192	0.24420	T	0.164472	0.50994	T	-0.382827	0.02990	T	-0.341696	0.40152	T	0.0141456625344	0.00277	T	0.443756	0.12347	T	0.18581071	0.39961	0.14502487	0.34411	0.21070506	0.43375	0.17015427	0.39102	-2.296	0.04533	T	0.5851595647277625	0.65195	0.147	0.33913	B	.;.;.	.;.;.	2.488127	0.32099	18.94	0.9798286198108741	0.37341	0.90744	0.52179	D	AEFDBCI	0.512582	0.54073	D	-0.20812658081158	0.32801	1.853847	-0.166277628281805	0.32785	1.868775	0.999982459097477	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	5.758000	0.68429	4.177000	0.42312	0.659000	0.54702	1.000000	0.71638	0.999000	0.35428	0.001000	0.02609	0.0:0.0:0.0:1.0	14.915	0.70437	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	936.98	60	chr16	89280430	.	T	C	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=902;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.222e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,38:102:99:951,0,1733	20	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	.	3	160	18	1	44	64	0.0588235	.	.	329188	not_specified|not_provided|Mulibrey_nanism_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3870.64	34	chr17	59064407	.	TA	T,TAA	3870.64	.	AC=6,4;AF=0.143,0.095;AN=42;BaseQRankSum=-1.690e-01;DP=1885;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3262;MLEAC=6,4;MLEAF=0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=3.66;ReadPosRankSum=-1.250e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/2:57,6,56:119:99:1136,1302,3135,0,1248,1282	11	0	6	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:1,0,0,0,0,3,2:6:54:.:.:153,151,200,151,200,200,151,200,200,200,151,200,200,200,200,54,81,81,81,81,65,58,118,118,118,118,0,135	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:1,0,0,0,0,3,2:6:54:.:.:153,151,200,151,200,200,151,200,200,200,151,200,200,200,200,54,81,81,81,81,65,58,118,118,118,118,0,135	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:1,0,0,0,0,3,2:6:54:.:.:153,151,200,151,200,200,151,200,200,200,151,200,200,200,200,54,81,81,81,81,65,58,118,118,118,118,0,135	2	1	3	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	6	48	368	1100	0	2568	0.963964	.	.	1182690	not_provided|not_specified|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1594,0,1663	0	12	9	0
chr18	46557437	46557437	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon21:c.G3269A:p.R1090Q	Deafness, autosomal recessive 77, Autosomal recessive	YES	1	1490	28	3	0	34	0.0112807	.	.	57097	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.988	D	0.000	D	1.000	D	1.82	L	-0.19	T	-0.547	T	0.238	T	0.95	3.424	17.58	5.21	2.440	4.902	16.533	0.516	.	0.0134	0.0071885	0.0096	0.0014	0.0095	0	0.0065	0.0196	0.0076	0.0020	0.0045795	708	154602	rs118174674	0.0179	0.0172	0.0181	0.0177	0.0211	0.0177	0.0177	0.0209	0.0208	0.0024	0.0106	0.0105	0	0.0082	0.0098	0.0211	0.0149	0.0027	0.0133	0.0133	0.0144	0.0122	0.0219	0.0129	0.0127	0.0210	0.0206	0.0030	0.0186	0.0154	0.0101	0.0002	0.0077	0.0102	0.0219	0.0161	0.0021	0.014	0.53172	D	0.01	0.65728	D	0.999	0.77913	D	0.96	0.70309	D	0.000005	0.62929	D	0.058685	0.99628	0.81001	D	.	.	.	-0.19	0.65931	T	-2.54	0.55025	D	0.598	0.61680	-0.5470	0.66900	T	0.238	0.60571	T	10	0.013051391	0.00278	T	.	.	.	0.516	0.79340	.	.	.	.	0.7089736164331186	0.70839	.	.	0.51623737812	0.41096	T	.	.	.	-0.0348533	0.46708	T	0.201534	0.83211	D	0.0371103333800702	0.03175	T	0.972003	0.89831	D	0.10974574	0.25944	0.1705613	0.39173	0.13350762	0.31050	0.1705613	0.39173	-9.184	0.68874	D	.	.	0.193	0.53151	B	.;.;.	.;.;.	4.555326	0.71734	25.7	0.99405191866984743	0.62981	0.96428	0.69091	D	AEFDI	0.840811	0.75806	D	0.614224322395921	0.74073	6.071229	0.609314280338477	0.75617	6.342069	0.999999998043971	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	5.030000	0.63910	3.974000	0.40849	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	16.533	0.84213	854	0.34840	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	rs118174674	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2730.98	46	chr18	46557437	.	C	T	2730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=883;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=0.619;SOR=0.864	GT:AD:DP:GQ:PL	0/1:60,103:163:99:2745,0,1237	20	0	1	0
chr19	47695060	47695060	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon9:c.C3056T:p.P1019L,	.	.	424	1087	10	1	0	12	0.00548948	.	.	2818506	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.015	B	0.004	B	.	.	0.984	N	0.55	N	1.51	T	-1.054	T	0.042	T	0.206	1.436	10.74	2.36	1.633	0.372	3.742	0.025	0.253149797867	.	0.000399361	0.0023	0	0	0	0	0.0004	0	0.0032	0.0002587	40	154602	rs566879134	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0013	0.0012	0.0002	0.0004	0.0004	2.809e-05	2.901e-05	0.0019	0.0004	0.0006	0.0016	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0010	0.0009	0.0002	0	0	0.0004	0.0009	0.0012	0.004	0.65419	D	0.01	0.65728	D	0.015	0.17086	B	0.004	0.10090	B	.	.	.	.	0.983767	0.24857	N	.	.	.	1.51	0.30937	T	-1.2	0.30555	N	0.271	0.33469	-1.0544	0.13198	T	0.042	0.17952	T	9	0.012189627	0.00263	T	0.25315	0.89200	D	0.025	0.05312	0.245	0.17984	0.043077524339	0.03247	0.3517732396465989	0.35091	0.227543361675	0.25305	0.709222197533	0.68480	T	0.010615	0.09570	T	-0.54006	0.00335	T	-0.56755	0.15675	T	0.0198505725061431	0.00687	T	0.691431	0.30091	T	0.05061061	0.09171	0.053140286	0.08894	0.05061061	0.09171	0.053140286	0.08893	-5.312	0.40062	T	.	.	0.084	0.12181	B	.;.	.;.	2.628707	0.34181	19.55	0.98929420217650343	0.48713	0.14624	0.18501	N	AEFBI	0.025813	0.01832	N	-0.615495391132795	0.18479	0.9596747	-0.554452174077509	0.20687	1.115737	0.0737832675596922	0.15645	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.43	2.36	0.28258	0.183000	0.16729	4.263000	0.42814	0.450000	0.21304	0.030000	0.20431	0.957000	0.29195	0.013000	0.09966	0.2443:0.6208:0.0:0.1349	3.742	0.08061	695	0.58372	.;.	.	.	.	.	.	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	0.04762	730.11	33	chr19	47695060	.	C	T	730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.51;DP=667;ExcessHet=0.1072;FS=1.065;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.600e-01;SOR=0.894	GT:AD:DP:GQ:PL	0/1:27,17:44:99:526,0,761	19	0	2	0
chr19	51382512	51382512	G	A	exonic	LIM2	.	synonymous SNV	LIM2:NM_001161748:exon3:c.C231T:p.S77S	Cataract 19, multiple types, Autosomal recessive	.	409	1090	21	2	0	25	0.0113379	.	.	344056	Cataract_19_multiple_types|not_provided	MONDO:MONDO:0014111,MedGen:C3809004,OMIM:615277,Orphanet:91492|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139	0.00978435	0.0072	0.0271	0.0048	0	0.0045	0.0069	0.0044	0.0024	0.0073608	1138	154602	rs8111243	0.0081	0.0081	0.0083	0.0078	0.0283	0.0080	0.0079	0.0268	0.0262	0.0283	0.0065	0.0136	2.519e-05	0.0057	0.0070	0.0083	0.0087	0.0019	0.0118	0.0118	0.0121	0.0115	0.0244	0.0114	0.0112	0.0231	0.0226	0.0244	0	0.0084	0.0150	0.0002	0.0041	0.0102	0.0077	0.0118	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	1	0	0	1	0.02381	3281.98	34	chr19	51382512	.	G	A	3281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=920;ExcessHet=0.0000;FS=3.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=1.19;SOR=0.980	GT:AD:DP:GQ:PL	0/1:105,123:228:99:3296,0,2541	20	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN,	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	YES	14	1118	329	61	0	451	0.167845	.	.	52561	Dilated_cardiomyopathy_2A|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Primary_ciliary_dyskinesia|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|MedGen:CN239247|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0.119	8505.44	125	chr19	55154042	.	C	T	8505.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.35;DP=1351;ExcessHet=1.1607;FS=0.528;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.104;SOR=0.597	GT:AD:DP:GQ:PL	0/1:97,59:156:99:1556,0,2662	16	0	5	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/1:89,95:184:99:2250,0,2227	9	2	10	0
chr20	32795493	32795493	A	G	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon8:c.A923G:p.Y308C	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	.	0	1502	20	0	0	20	0.00661376	.	.	335228	Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency|not_provided|Kabuki_syndrome_1|not_specified|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1	MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:CN169374|MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.007	B	0.159	N	0.897	N	0.895	L	-4.1	D	-0.212	T	0.681	D	0.149	0.935	8.808	1.52	0.923	0.821	0.661	0.040	.	0.0002	0.0159744	0.0089	9.615e-05	0.0014	0	0.0002	0.0002	0.0033	0.0634	0.0078071	1207	154602	rs143462810	0.0039	0.0039	0.0022	0.0056	0.0605	0.0038	0.0038	0.0591	0.0586	2.987e-05	0.0007	3.826e-05	0.0002	1.872e-05	0.0035	8.183e-05	0.0047	0.0605	0.0024	0.0024	0.0012	0.0037	0.0687	0.0022	0.0021	0.0626	0.0602	0.0001	0	0.0008	0	0.0008	0	0	0.0002	0.0009	0.0687	0.145	0.27544	T	0.183	0.29153	T	0.002	0.09854	B	0.002	0.12992	B	0.158811	0.17729	N	0.605501	0.981461	0.27779	N	1.59	0.40313	L	-4.1	0.96659	D	-1.6	0.38540	N	0.183	0.19861	-0.2123	0.77353	T	0.681	0.88970	D	10	0.0021784306	0.00031	T	.	.	.	0.227	0.52620	.	.	0.589340249404	0.58608	0.1875452257985568	0.18672	0.223836274765	0.24900	0.550995111465	0.45997	T	0.077281	0.35617	T	-0.313969	0.07403	T	-0.178981	0.56617	T	0.0228577437426008	0.01006	T	0.883212	0.61335	D	0.059401006	0.12068	0.049619008	0.07621	0.079411715	0.18141	0.049619008	0.07621	-3.065	0.10898	T	0.08472745542654836	0.04706	0.050	0.00145	B	.;.;.;.;.;.	.;.;.;.;.;.	1.736035	0.22091	15.48	0.8761316044698515	0.17354	0.10758	0.16172	N	AEFBCI	0.043783	0.06965	N	-0.843575027149107	0.12208	0.5937067	-0.770910383119167	0.15210	0.7987583	0.992998457867523	0.33045	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.2	1.52	0.22158	0.858000	0.27500	0.534000	0.19274	0.756000	0.94297	0.052000	0.21487	0.000000	0.08366	0.934000	0.47231	0.4673:0.1989:0.1427:0.1911	0.661	0.00789	311	0.87433	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1817.98	34	chr20	32795493	.	A	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.77;SOR=0.675	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1832,0,1615	20	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	0/1:1,3:4:28:80,0,28	3	9	7	2
chr20	62318945	62318945	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon52:c.C6940T:p.R2314W,	.	.	412	1100	10	0	0	10	0.00452489	.	.	2128698	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.06	B	0.013	B	0.061	N	1.000	N	1.1	L	2.78	T	-1.005	T	0.013	T	0.182	0.602	7.243	0.458	-0.183	2.070	4.828	0.036	0.0371110188731	0.0003	0.000599042	0.0005	0	0.0007	0	0.0005	0.0007	0	0.0004	0.0003169	49	154602	rs201303962	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0041	0.0035	0.0001	0.0004	0	0	4.16e-05	0.0056	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	2.407e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0006	0.173	0.22573	T	0.052	0.47581	T	0.06	0.23119	B	0.013	0.16460	B	0.061045	0.22202	N	0.452057	0.999999	0.08975	N	1.08	0.27187	L	2.78	0.11298	T	-3.64	0.69835	D	0.29	0.32812	-1.0054	0.28337	T	0.013	0.05081	T	10	0.030061334	0.01132	T	0.037111	0.57411	D	0.036	0.09122	.	.	0.206203607746	0.20212	0.324488234620309	0.32361	.	.	0.470058590174	0.34688	T	0.113339	0.43031	T	-0.522781	0.00424	T	-0.606747	0.12250	T	0.0632181531677816	0.07666	T	0.682432	0.29103	T	0.10287255	0.24311	0.07624333	0.16869	0.10287255	0.24310	0.07624333	0.16868	-6.894	0.53255	T	.	.	0.102	0.17827	B	.	.	3.188377	0.43307	21.7	0.92787345666927878	0.22306	0.26152	0.22910	N	AEFDGBCI	0.208027	0.33415	N	-0.997228787310727	0.08663	0.407031	-1.04039814860417	0.08908	0.4403721	0.670159914126991	0.22366	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.25	0.458	0.15882	2.739000	0.47083	0.897000	0.22519	0.653000	0.53440	0.937000	0.32526	0.000000	0.08366	0.002000	0.04165	0.2242:0.0:0.6165:0.1593	4.828	0.12789	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.66	33	chr20	62318945	.	G	A	3205.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.99;DP=815;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-3.580e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1260,0,775	19	1	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,66:118:99:0|1:43928847_C_G:2615,0,1943:43928847	8	2	11	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	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	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1563,0,2209	4	12	5	0