Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES960-M	WT	HH	HZ	NC
chr1	1525277	1525277	C	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon12:c.C1252T:p.R418W,ATAD3A:NM_001170536:exon12:c.C1015T:p.R339W,ATAD3A:NM_018188:exon12:c.C1396T:p.R466W	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	412	1109	1	0	0	1	0.000450653	.	.	.	2203208	Inborn_genetic_diseases|Harel-Yoon_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	0.102856342077	0.0002	0.000199681	0.0002	9.649e-05	0	0.0001	0	0.0001	0	0.0011	0.0002005	31	154602	rs139254288	0.0001	0.0001	8.305e-05	0.0001	0.0014	9.604e-05	9.084e-05	0.0007	0.0007	0.0002	2.236e-05	0	0.0003	0	0.0014	3.867e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0006	9.152e-05	7.706e-05	0.0002	0.0001	0.0003	0	0	0	0.0002	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.023	0.63109	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.54805	D	4.045	0.97016	H	-3.26	0.93587	D	-7.36	0.95511	D	0.741	0.77039	0.138	0.84855	D	0.550	0.83527	D	10	0.67505985	0.70941	D	0.102856	0.77656	D	0.743	0.91112	.	.	0.948121439518	0.94758	0.8804251713247512	0.88010	0.596502844283	0.54888	0.823670804501	0.85590	D	0.746203	0.95748	D	0.123577	0.66728	D	0.348386	0.90253	D	0.369482979668987	0.27777	T	0.987201	0.97673	D	0.65672094	0.75723	0.48456365	0.70163	0.65672094	0.75724	0.48456365	0.70164	-14.331	0.94083	D	0.7462835926538849	0.82838	0.483	0.63820	A	.;.;.;.	.;.;.;.	3.524873	0.49431	22.8	0.99728345898339754	0.82549	0.36526	0.25553	N	AEFGBI	0.587077	0.58487	D	-0.186267832213533	0.33706	1.915303	-0.312275443445523	0.27702	1.539042	0.035677837938269	0.14211	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	2.42	0.28720	0.295000	0.18821	1.829000	0.29100	-0.302000	0.06182	0.771000	0.29368	0.499000	0.25194	0.002000	0.04165	0.6825:0.3175:0.0:0.0	10.867	0.46067	846	0.36215	.;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	4474.83	33	chr1	1525277	.	C	T	4474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=948;ExcessHet=0.119;FS=1.82;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.021;SOR=0.711	GT:AD:DP:GQ:PL	0/1:73,116:189:99:2909,0,1574	17	0	2	0
chr1	5874978	5874978	C	T	exonic	NPHP4	.	synonymous SNV	NPHP4:NM_001291594:exon17:c.G1404A:p.T468T,NPHP4:NM_001291593:exon18:c.G1401A:p.T467T,NPHP4:NM_015102:exon21:c.G2940A:p.T980T	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	489297	Nephronophthisis|NPHP4-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:CN239384|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000199681	0.0004	0.0012	8.694e-05	0	0	0.0005	0	0	0.000414	64	154602	rs146948888	0.0006	0.0006	0.0007	0.0006	0.0016	0.0006	0.0006	0.0011	0.0009	0.0014	0.0004	3.827e-05	0.0003	1.913e-05	0.0016	0.0007	0.0007	4.637e-05	0.0008	0.0008	0.0008	0.0008	0.0015	0.0007	0.0007	0.0012	0.0011	0.0015	0.0022	0.0003	0	0	0.0002	0	0.0008	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	2510.33	37	chr1	5874978	.	C	T	2510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=858;ExcessHet=0;FS=2.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.19;SOR=0.901	GT:AD:DP:GQ:PL	0/1:80,96:176:99:2524,0,1815	18	0	1	0
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.05263	8136.83	130	chr1	7830093	.	C	T	8136.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=2287;ExcessHet=0.119;FS=1.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:182,169:351:99:4391,0,4815	17	0	2	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y,MASP2:NM_139208:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	275880	not_specified|Immunodeficiency_due_to_MASP-2_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like 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	0.002026	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007634	0.05263	1092.83	34	chr1	11045485	.	C	T	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=733;ExcessHet=0.119;FS=0.693;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.21;SOR=0.786	GT:AD:DP:GQ:PL	0/1:42,30:72:99:655,0,1102	17	0	2	0
chr1	11046609	11046609	T	C	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon3:c.A359G:p.D120G,MASP2:NM_139208:exon3:c.A359G:p.D120G	MASP2 deficiency, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	20249	MASP2-related_disorder|not_specified|Immunodeficiency_due_to_MASP-2_deficiency|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.762	.	0.0211	0.0119808	0.0225	0.0050	0.0088	0	0.0479	0.0326	0.0204	0.0041	0.0221343	3422	154602	rs72550870	0.0270	0.0270	0.0275	0.0264	0.0310	0.0267	0.0267	0.0307	0.0306	0.0036	0.0106	0.0036	0	0.0463	0.0033	0.0310	0.0237	0.0042	0.0221	0.0221	0.0215	0.0227	0.0324	0.0215	0.0212	0.0313	0.0308	0.0054	0.0164	0.0205	0.0026	0	0.0505	0.0204	0.0324	0.0208	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.984	0.68779	D	0.972	0.72692	D	0.000004	0.62929	D	0.058181	1	0.81001	A	3.615	0.93875	H	1.1	0.39050	T	-6.57	0.93621	D	0.317	0.81758	-0.3754	0.72795	T	0.104	0.38144	T	9	0.010086238	0.00226	T	.	.	.	0.762	0.91920	.	.	.	.	0.8656407539773571	0.86529	0.294491625161	0.31871	0.552187681198	0.46166	T	0.223036	0.58707	T	-0.035043	0.46681	T	0.202649	0.83273	D	0.0521913270360605	0.05880	T	0.913509	0.70943	D	0.9524209	0.96511	0.9153051	0.96066	0.9655984	0.97838	0.9148437	0.96034	-12.165	0.87650	D	0.9084495563604952	0.95743	0.820	0.90036	P	.;.	.;.	4.743307	0.76522	26.5	0.99843911276439712	0.92403	0.97381	0.74389	D	AEFDGBCI	0.923763	0.90076	D	0.797864746443983	0.85972	8.738522	0.712899690712759	0.83359	8.000788	0.999999999999139	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	7.729000	0.83815	7.740000	0.67992	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	13.272	0.59598	794	0.45591	CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	MASP2	Liver	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.002717	0.000000	0.050000	0.017241	0.006098	0.007576	0.02632	892.33	36	chr1	11046609	.	T	C	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.112;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.253;SOR=0.752	GT:AD:DP:GQ:PL	0/1:37,36:73:99:906,0,955	18	0	1	0
chr1	15765096	15765096	G	A	exonic	FBLIM1	.	nonsynonymous SNV	FBLIM1:NM_001024215:exon2:c.G113A:p.R38Q,FBLIM1:NM_001024216:exon3:c.G113A:p.R38Q,FBLIM1:NM_017556:exon3:c.G113A:p.R38Q,FBLIM1:NM_001350151:exon4:c.G113A:p.R38Q	.	405	1087	29	1	0	31	0.014059	.	.	.	1779949	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0021	0.00399361	0.0042	0.0012	0.0014	0.0073	0	0.0026	0.0045	0.0142	0.0037257	576	154602	rs146575757	0.0025	0.0025	0.0021	0.0029	0.0127	0.0024	0.0024	0.0121	0.0119	0.0010	0.0016	0.0096	0.0054	0.0002	0.0125	0.0015	0.0037	0.0127	0.0024	0.0024	0.0022	0.0025	0.0114	0.0022	0.0021	0.0090	0.0081	0.0011	0	0.0027	0.0075	0.0041	9.409e-05	0	0.0024	0.0028	0.0114	0.176	0.25560	T	0.426	0.16086	T	0.018	0.17786	B	0.003	0.11217	B	0.049034	0.23198	N	0.404553	1	0.08975	N	0.9	0.23182	L	0.62	0.62318	T	-1.49	0.46503	N	0.104	0.08925	-1.0223	0.22965	T	0.074	0.29928	T	10	0.0025619268	0.00039	T	.	.	.	0.072	0.21020	.	.	0.477298106951	0.47359	0.09068679261122307	0.09001	0.259966874952	0.28564	0.351580142975	0.18154	T	0.032639	0.22963	T	-0.462007	0.00955	T	-0.425387	0.30461	T	0.00265334127602166	0.00028	T	0.687731	0.32279	T	0.051397223	0.09433	0.025757005	0.00632	0.051397223	0.09433	0.025757005	0.00632	-3.985	0.24965	T	.	.	0.073	0.09094	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.286258	0.16869	12.81	0.98557913723695179	0.42935	0.10035	0.15650	N	AEFDBI	0.084200	0.17062	N	-0.906550316843491	0.10687	0.5119588	-0.812082696519917	0.14204	0.7409243	0.999968288589811	0.48965	0.722319	0.85440	0	0.59043	0.45803	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.84	2.94	0.33188	1.012000	0.29527	0.698000	0.20823	-0.713000	0.03919	0.009000	0.18154	0.001000	0.17328	0.030000	0.13115	0.1801:0.1591:0.4965:0.1643	1.865	0.03002	728	0.54609	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.008772	0.000000	0.008621	0.003049	0.018939	0.02632	1415.33	34	chr1	15765096	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=732;ExcessHet=0;FS=3.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.063;SOR=0.407	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1429,0,965	18	0	1	0
chr1	17044818	17044818	T	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A143T:p.D48V	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	48183	Paragangliomas_4|Pheochromocytoma|Gastrointestinal_stromal_tumor|not_provided|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Mitochondrial_complex_2_deficiency,_nuclear_type_4|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.917	0.673341883146	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs202101384	1.984e-05	1.984e-05	9.529e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	2.698e-06	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	6.548e-05	2.18e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.888	0.48822	P	0.745	0.55870	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	-5.38	0.99045	D	-5.01	0.82450	D	0.939	0.94550	1.083	0.98981	D	0.972	0.99129	D	10	0.8362266	0.82779	D	0.673342	0.97280	D	0.917	0.97852	0.544	0.65731	0.989186055574	0.98906	0.8680426427243094	0.86769	0.731539961382	0.62749	0.531592726707	0.43259	T	0.913204	0.98382	D	0.34735	0.86329	D	0.565715	0.96020	D	0.934484004974365	0.60200	D	0.993001	0.97720	D	0.92658126	0.93895	0.8971284	0.94772	0.9296118	0.94199	0.89180464	0.94395	-10.556	0.77168	D	0.4116958659517902	0.50192	0.554	0.67915	A	.;.	.;.	5.115164	0.85536	28.6	0.9942255575376906	0.63838	0.97797	0.77204	D	AEFDBI	0.888829	0.82234	D	0.802256886043653	0.86246	8.824348	0.779434746241346	0.88330	9.541495	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.835000	0.70278	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2017.33	52	chr1	17044818	.	T	A	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=1081;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.09;SOR=0.599	GT:AD:DP:GQ:PL	0/1:118,87:205:99:2031,0,2928	18	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	33620.1	156	chr1	37708311	.	TTTC	T	33620.1	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.21;DP=1786;ExcessHet=0.5777;FS=1.129;InbreedingCoeff=0.1044;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=0.002;SOR=0.787	GT:AD:DP:GQ:PL	1/1:0,157:157:99:7010,473,0	10	2	7	0
chr1	55038977	55038977	G	A	upstream	PCSK9	dist=571	.	.	Hypercholesterolemia, familial, 3	1383	64	4	71	0	146	0.532847	.	.	.	434132	Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.601438	.	.	.	.	.	.	.	.	0.614454	15993	26028	rs2479409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6550	0.6548	0.6555	0.6544	0.7401	0.6515	0.6501	0.7332	0.7303	0.7401	0.7462	0.4896	0.6250	0.3408	0.7158	0.5850	0.6504	0.6293	0.7341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	530.01	.	chr1	55038977	.	G	A	530.01	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.967;DP=20;ExcessHet=0;FS=0;InbreedingCoeff=0.3121;MLEAC=16;MLEAF=1;MQ=60;MQRankSum=0;QD=28.18;ReadPosRankSum=-0.967;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0	2	4	1	12
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	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	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	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	102349.0	197	chr1	55057360	.	A	G	102349.0	.	AC=38;AF=1;AN=38;BaseQRankSum=2;DP=3350;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=31.41;ReadPosRankSum=1.31;SOR=0.251	GT:AD:DP:GQ:PL	1/1:0,192:192:99:5938,576,0	0	19	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	16785.1	32	chr1	89054646	.	GAAAAAC	G	16785.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.619;DP=717;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.94;MQRankSum=0;QD=32.09;ReadPosRankSum=0.749;SOR=0.642	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1472,99,0	5	8	6	0
chr1	92478757	92478757	-	AGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	283368	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0327	0.0359	0.0225	0.0439	0.0269	0.0289	0.0242	0.0481	0.0189907	2936	154602	rs371078453	0.0531	0.0615	0.0531	0.0531	0.0744	0.0528	0.0527	0.0720	0.0711	0.0667	0.0529	0.0729	0.0744	0.0562	0.0574	0.0506	0.0558	0.0621	0.0643	0.0678	0.0644	0.0642	0.1236	0.0632	0.0627	0.1151	0.1117	0.0807	0.0320	0.0678	0.0861	0.1236	0.0495	0.0699	0.0516	0.0513	0.0704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	10952.6	16	chr1	92478757	.	C	CAGAGAGAG	10952.6	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.609;DP=877;ExcessHet=0.3441;FS=1.223;InbreedingCoeff=-0.0208;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=32.6;ReadPosRankSum=0.395;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:38:1:.:.:498,81,159:.	15	0	3	1
chr1	92478757	92478757	-	AGAGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281300	Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided|GFI1-related_disorder|not_specified|Severe_congenital_neutropenia	MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs371078453	0.0383	0.0466	0.0385	0.0382	0.0384	0.0381	0.0379	0.0381	0.0379	0.0280	0.0198	0.0545	0.0236	0.0686	0.0357	0.0384	0.0375	0.0355	0.0660	0.0711	0.0640	0.0681	0.0743	0.0648	0.0644	0.0725	0.0718	0.0426	0.1457	0.0415	0.1163	0.0581	0.1245	0.0551	0.0743	0.0632	0.0555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	10952.6	16	chr1	92478757	.	C	CAGAGAGAGAG	10952.6	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.609;DP=877;ExcessHet=0.3441;FS=1.223;InbreedingCoeff=-0.0208;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=32.6;ReadPosRankSum=0.395;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,8:38:1:.:.:498,73,179:.	14	0	4	1
chr1	94031856	94031856	C	G	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon27:c.G4050C:p.L1350L	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	YES	283422	Macular_degeneration|Cone-Rod_Dystrophy,_Recessive|Retinitis_Pigmentosa,_Recessive|ABCA4-related_disorder|Stargardt_Disease,_Recessive|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MedGen:CN239309|MedGen:CN239466|MedGen:CN239167|MedGen:CN239312|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00179712	0.0012	0	0.0003	0	0.0002	0.0007	0.0022	0.0055	0.0010284	159	154602	rs141004967	0.0007	0.0007	0.0005	0.0008	0.0055	0.0006	0.0006	0.0051	0.0050	5.974e-05	0.0003	0	0	0.0004	0.0044	0.0004	0.0010	0.0055	0.0005	0.0005	0.0004	0.0006	0.0039	0.0004	0.0004	0.0026	0.0021	7.215e-05	0	0.0004	0	0	0.0003	0	0.0006	0.0009	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	6451.83	37	chr1	94031856	.	C	G	6451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.322;DP=1134;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.922;SOR=0.676	GT:AD:DP:GQ:PL	0/1:98,121:219:99:3042,0,2378	17	0	2	0
chr1	103031249	103031249	-	A	intronic	COL11A1	.	.	.	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	194897	Stickler_Syndrome,_Dominant|Connective_tissue_disorder|not_specified|not_provided|Fibrochondrogenesis_1|Marshall_syndrome	MedGen:CN239460|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orphanet:560	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0163738	0.0441	0.0193	0.0272	0.0470	0.0674	0.0456	0.0533	0.0539	0.0002305	6	26028	rs546786215	0.0430	0.0427	0.0428	0.0432	0.0469	0.0426	0.0425	0.0456	0.0451	0.0217	0.0227	0.0529	0.0390	0.0591	0.0417	0.0435	0.0420	0.0469	0.0337	0.0331	0.0331	0.0344	0.0561	0.0329	0.0326	0.0505	0.0483	0.0084	0.0034	0.0372	0.0489	0.0384	0.0578	0.1007	0.0425	0.0348	0.0561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	51578.8	128	chr1	103031249	.	G	GA	51578.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.532;DP=2826;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.81;ReadPosRankSum=0.124;SOR=0.915	GT:AD:DP:GQ:PL	0/1:6,33:103:99:2047,1491,1993	18	0	1	0
chr1	114679616	114679616	T	A	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon6:c.A947T:p.K316I,AMPD1:NM_000036:exon7:c.A860T:p.K287I	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	0	1459	61	2	0	65	0.0217901	.	.	YES	98249	not_provided|not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|Muscle_AMP_deaminase_deficiency|AMPD1-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.881	.	0.0241	0.0109824	0.0282	0.0045	0.0142	0	0.0878	0.0350	0.0407	0.0159	0.0274317	4241	154602	rs34526199	0.0316	0.0317	0.0319	0.0314	0.0335	0.0314	0.0313	0.0332	0.0331	0.0044	0.0159	0.0238	2.519e-05	0.0803	0.0196	0.0335	0.0299	0.0155	0.0265	0.0264	0.0249	0.0281	0.0344	0.0258	0.0255	0.0332	0.0327	0.0054	0.1297	0.0164	0.0235	0.0006	0.0847	0.0170	0.0344	0.0224	0.0116	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.81	0.95479	H	-1.99	0.85320	D	-6.86	0.93135	D	0.351	0.43320	0.831	0.94790	D	0.798	0.93174	D	10	0.005099088	0.00110	T	.	.	.	0.881	0.96502	.	.	.	.	0.7484147129401701	0.74787	0.601013901406	0.55159	0.770982503891	0.77572	T	0.791477	0.94587	D	-0.0477223	0.44792	T	0.18795	0.82454	D	0.867863833904266	0.51786	D	0.757724	0.41106	T	0.88190454	0.89824	0.7822354	0.87166	0.87735844	0.89453	0.76244676	0.85966	-14.491	0.94816	D	0.6649270238293095	0.73900	0.958	0.89404	P	.;.	.;.	5.285014	0.88739	29.7	0.99566596249392691	0.72136	0.98422	0.82613	D	AEFBI	0.925823	0.90596	D	0.954341640209264	0.94156	12.54345	0.889445809054819	0.95096	13.308	0.99997604940268	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.63	5.63	0.86108	8.017000	0.88732	7.809000	0.69375	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.148	0.81406	809	0.43032	.;.	TSPAN2|NRAS|DENND2C	Artery_Tibial|Esophagus_Mucosa|Testis	.	.	rs34526199	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.010101	0.001359	0.026316	0.000000	0.034483	0.030675	0.022727	0.02632	432.33	34	chr1	114679616	.	T	A	432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.69;DP=627;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.08;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,20:36:99:446,0,363	18	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9760.8	91	chr1	158618068	.	G	A	9760.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.17;DP=1146;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.208;SOR=0.723	GT:AD:DP:GQ:PL	0/1:36,35:71:99:906,0,909	11	1	7	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	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	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.2368	13469.8	122	chr1	158627717	.	G	C	13469.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.065;DP=1324;ExcessHet=1.1637;FS=0.543;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.533;SOR=0.778	GT:AD:DP:GQ:PL	0/1:78,54:132:99:1438,0,2217	11	1	7	0
chr1	158642855	158642855	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.A4564G:p.T1522A	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	277665	SPTA1-related_disorder|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3	.|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0207780062643	0.0002	0.000399361	0.0007	0	0.0003	0	0	0.0011	0.0022	0.0005	0.000705	109	154602	rs201910178	0.0010	0.0010	0.0009	0.0010	0.0075	0.0009	0.0009	0.0057	0.0051	0.0002	0.0003	0.0037	0	0.0002	0.0075	0.0010	0.0011	0.0006	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0029	0	9.416e-05	0	0.0013	0	0	0.099	0.30656	T	0.458	0.12668	T	0.132	0.27209	B	0.156	0.34472	B	0.885278	0.08726	N	0.917774	0.990658	0.24142	N	2.5	0.72771	M	0.8	0.48769	T	-1.39	0.34397	N	0.474	0.50958	-0.9474	0.41414	T	0.061	0.25310	T	10	0.013800144	0.00292	T	0.020778	0.43441	T	0.063	0.18251	.	.	0.648292071497	0.64537	0.05070870838630936	0.05012	0.0609435135893	0.06783	0.252494364977	0.04035	T	0.246818	0.61635	T	-0.461801	0.00958	T	-0.486562	0.23751	T	0.035502270005993	0.02894	T	0.910209	0.68156	D	0.108236	0.25591	0.08472892	0.19511	0.108236	0.25591	0.08472892	0.19510	-5.355	0.40484	T	0.4290842476968101	0.51652	0.085	0.10111	B	.;.	.;.	2.851845	0.37657	20.5	0.97629653443492093	0.35012	0.92535	0.55939	D	AEFBI	0.383512	0.46499	N	-0.199141202593261	0.33170	1.878869	-0.119189309491666	0.34617	1.993258	0.126240631492949	0.16995	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.84	0.32241	3.990000	0.56677	0.947000	0.22895	-0.120000	0.14102	1.000000	0.71638	0.077000	0.22320	0.983000	0.59808	0.0:0.1536:0.0:0.8464	8.846	0.34331	607	0.67291	.;.	.	.	.	.	.	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	0.005051	0.005051	0.001359	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1562.33	55	chr1	158642855	.	T	C	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=822;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.327;SOR=0.754	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1576,0,1723	18	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	18811.2	56	chr1	158668075	.	GAAA	G	18811.2	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	1/0:0,54:65:70:2619,265,70	10	0	9	0
chr1	161214269	161214269	-	TGTGTG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTGTGTG;NM_001377300:c.*328_*329insTGTGTG;NM_001377301:c.*328_*329insTGTGTG;NM_004550:c.*76_*77insTGTGTG;NM_001166159:c.*328_*329insTGTGTG;NM_001377299:c.*76_*77insTGTGTG;NM_001377302:c.*119_*120insTGTGTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277891	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs10629771	0.1103	0.1169	0.1075	0.1129	0.1917	0.1097	0.1094	0.1877	0.1860	0.0491	0.1896	0.1549	0.1917	0.0897	0.1237	0.0977	0.1182	0.1378	0.1349	0.1345	0.1345	0.1353	0.2373	0.1333	0.1326	0.2260	0.2214	0.0698	0.1581	0.2006	0.1998	0.2373	0.1092	0.1747	0.1498	0.1315	0.1588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9816.21	27	chr1	161214269	.	C	CTGTGTG	9816.21	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.259;DP=884;ExcessHet=1.8686;FS=5.863;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0.138;SOR=1.866	GT:AD:DP:GQ:PL	1/0:1,6:20:99:837,338,294	15	0	4	0
chr1	162780421	162780421	T	-	UTR3	DDR2	NM_001354983:c.*175delT;NM_001354982:c.*175delT;NM_006182:c.*175delT;NM_001014796:c.*175delT	.	.	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278135	not_provided|Spondyloepimetaphyseal_dysplasia	MedGen:CN517202|Human_Phenotype_Ontology:HP:0002651,MONDO:MONDO:0100510,MedGen:C0432211	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs368292827	0.1984	0.1825	0.1988	0.1981	0.4303	0.1974	0.1970	0.4208	0.4169	0.4303	0.3124	0.1389	0.3468	0.1546	0.1969	0.1756	0.2123	0.2306	0.3284	0.3288	0.3279	0.3290	0.5636	0.3259	0.3249	0.5574	0.5548	0.5636	0.3086	0.3706	0.1435	0.4245	0.1593	0.2695	0.2055	0.3059	0.3194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4871.56	.	chr1	162780420	.	CT	C	4871.56	.	AC=6;AF=0.188;AN=32;DP=127;ExcessHet=0;FS=0;InbreedingCoeff=0.7285;MLEAC=7;MLEAF=0.219;MQ=60;QD=32.04;SOR=4.863	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:162780418_C_T:261,18,0:162780418	12	2	2	3
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.4737	32470.2	115	chr1	169529737	.	T	C	32470.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.57;DP=1823;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-0.598;SOR=0.71	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1371,0,1746	7	6	6	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.3947	49275.7	126	chr1	169542517	.	T	C	49275.7	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.214;DP=2812;ExcessHet=0.0178;FS=2.037;InbreedingCoeff=0.4493;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-0.549;SOR=0.518	GT:AD:DP:GQ:PL	0/1:126,111:237:99:2821,0,3407	9	5	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	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	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6053	27495.8	67	chr1	179889309	.	G	A	27495.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.264;DP=1439;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.651;SOR=0.736	GT:AD:DP:GQ:PL	0/1:42,43:85:99:962,0,995	4	8	7	0
chr1	186103490	186103490	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon69:c.G10592A:p.G3531E	.	424	1092	5	1	0	7	0.00319489	.	.	.	1477498	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0486677188173	.	.	0.0001	0	0	0	0	6.014e-05	0	0.0006	9.06e-05	14	154602	rs752255369	4.723e-05	4.72e-05	2.861e-05	6.604e-05	0.0005	3.796e-05	3.478e-05	0.0003	0.0003	0	0	0	0	0	0.0005	1.8e-05	0.0001	0.0005	3.946e-05	3.941e-05	2.571e-05	5.387e-05	0.0006	1.717e-05	1.13e-05	0.0002	9.007e-05	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.187	0.21385	T	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.095664	1	0.81001	D	1.52	0.38360	L	-0.09	0.64086	T	-2.35	0.51968	N	0.591	0.61087	-0.7073	0.60085	T	0.275	0.64639	T	10	0.38278577	0.54319	T	0.048668	0.63474	D	0.328	0.65026	0.411	0.44723	0.793044301672	0.79112	0.7782033608870618	0.77770	0.471827866545	0.46434	0.472764074802	0.35060	T	.	.	.	-0.264924	0.12329	T	-0.261944	0.48629	T	0.243939206004143	0.22599	T	0.824517	0.48627	T	0.2913661	0.52119	0.3599806	0.61447	0.2913661	0.52119	0.3599806	0.61447	-7.347	0.56529	T	.	.	0.139	0.30423	B	.	.	3.552361	0.49947	22.9	0.99338034137003228	0.60051	0.97855	0.77635	D	AEFGBI	0.798879	0.72529	D	0.422430981053957	0.62657	4.485299	0.422516475874003	0.62970	4.521868	0.999999960008334	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620204	0.46100	0	.	.	5.45	3.56	0.39892	6.322000	0.72847	6.618000	0.56110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0688:0.1276:0.8036:0.0	11.241	0.48199	445	0.79730	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1573.33	39	chr1	186103490	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.804;SOR=0.733	GT:AD:DP:GQ:PL	0/1:90,68:158:99:1587,0,2133	18	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	567.95	1	chr1	212897349	.	T	TACAC	567.95	.	AC=7;AF=0.219;AN=32;BaseQRankSum=1.38;DP=52;ExcessHet=0.0008;FS=0;InbreedingCoeff=0.3835;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=27.05;ReadPosRankSum=0.328;SOR=0.818	GT:AD:DP:GQ:PL	1/0:0,1:3:25:106,64,61	11	2	3	3
chr1	218405343	218405343	-	TTGTTG	intronic	TGFB2	.	.	.	Loeys-Dietz syndrome 4, Autosomal dominant	1	191	2	1	31	35	0.0103627	.	.	.	228353	not_specified|not_provided|Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0472	.	0.0836	0.0783	0.0990	0.1545	0.0769	0.0726	0.0925	0.0859	0.0001153	3	26028	rs10482769	0.0777	0.0728	0.0769	0.0784	0.1591	0.0773	0.0771	0.1557	0.1543	0.0825	0.1058	0.0828	0.1591	0.0759	0.1057	0.0716	0.0835	0.0963	0.0762	0.0768	0.0740	0.0785	0.1503	0.0750	0.0745	0.1415	0.1380	0.0758	0.0176	0.0912	0.0780	0.1503	0.0778	0.1207	0.0673	0.0856	0.0789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	6804.99	33	chr1	218405343	.	T	TTTGTTG	6804.99	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.253;DP=1016;ExcessHet=0.2833;FS=0.574;InbreedingCoeff=0.1857;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=23.79;ReadPosRankSum=-0.089;SOR=0.62	GT:AD:DP:GQ:PL	0/1:13,29:42:99:1120,0,452	11	1	7	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	73654.4	149	chr1	226735804	.	G	T	73654.4	.	AC=38;AF=1;AN=38;BaseQRankSum=1.84;DP=2228;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=33.85;ReadPosRankSum=1.53;SOR=0.402	GT:AD:DP:GQ:PL	1/1:0,123:123:99:4186,369,0	0	19	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.4737	24135.2	90	chr1	226736237	.	A	C	24135.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.41;DP=1605;ExcessHet=1.9883;FS=1.834;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.395;SOR=0.86	GT:AD:DP:GQ:PL	0/1:47,30:77:99:952,0,1493	5	4	10	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	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14118.8	41	chr1	226737174	.	ACTGCCGCTG	A	14118.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.056;DP=1038;ExcessHet=0.145;FS=0.582;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=26.54;ReadPosRankSum=0.202;SOR=0.622	GT:AD:DP:GQ:PL	0/1:34,33:67:99:1250,0,1319	10	3	6	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	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7981.5	40	chr1	236897645	.	CT	C	7981.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.177;DP=1587;ExcessHet=22.3492;FS=0.549;InbreedingCoeff=-0.6784;MLEAC=18;MLEAF=0.474;MQ=59.99;MQRankSum=0;QD=7.76;ReadPosRankSum=0.087;SOR=0.638	GT:AD:DP:GQ:PL	0/1:40,12:57:99:136,0,913	2	2	15	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|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	4921.59	12	chr1	237833281	.	G	GA	4921.59	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.027;DP=481;ExcessHet=2.8292;FS=3.582;InbreedingCoeff=-0.0917;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.165;SOR=0.992	GT:AD:DP:GQ:PL	0/1:2,12:15:7:283,0,7	2	3	14	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	12226.9	7	chr1	241500602	.	T	TGAGA	12226.9	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=12;MLEAF=0.333;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	1/0:1,8:27:99:1086,429,392	7	1	10	1
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	12226.9	7	chr1	241500602	.	T	TGAGAGA	12226.9	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=8;MLEAF=0.222;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	0/1:1,18:27:99:1086,180,143	11	1	6	1
chr1	247425556	247425556	C	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C2107A:p.Q703K,NLRP3:NM_001127462:exon4:c.C2107A:p.Q703K,NLRP3:NM_001243133:exon4:c.C2107A:p.Q703K,NLRP3:NM_004895:exon4:c.C2113A:p.Q705K,NLRP3:NM_183395:exon4:c.C2107A:p.Q703K,NLRP3:NM_001079821:exon5:c.C2107A:p.Q703K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	2	1361	147	12	0	171	0.0591082	.	.	.	249858	Autoinflammatory_syndrome|Focal_segmental_glomerulosclerosis|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	.	0.0348	0.0223642	0.0409	0.0103	0.0174	0.0023	0.0455	0.0554	0.0475	0.0364	0.0401806	6212	154602	rs35829419	0.0444	0.0444	0.0443	0.0444	0.0567	0.0441	0.0440	0.0516	0.0496	0.0093	0.0195	0.0648	0.0018	0.0485	0.0567	0.0480	0.0407	0.0374	0.0328	0.0328	0.0331	0.0325	0.0466	0.0320	0.0317	0.0452	0.0447	0.0099	0.0462	0.0235	0.0678	0.0015	0.0475	0.0510	0.0466	0.0383	0.0357	0.233	0.18956	T	0.581	0.13252	T	0.137	0.27402	B	0.022	0.19653	B	0.001058	0.00730	N	3.339880	1	0.08975	N	.	.	.	-2.37	0.88220	D	0.2	0.09135	N	0.105	0.14196	-0.7308	0.58923	T	0.119	0.41735	T	10	0.0027211607	0.00042	T	.	.	.	0.162	0.41843	.	.	.	.	0.3650717210622987	0.36421	0.593062829215	0.54674	0.258289754391	0.04689	T	0.174501	0.52374	T	-0.409931	0.01990	T	-0.323629	0.42176	T	0.00282959321631737	0.00030	T	0.688631	0.30243	T	0.09577053	0.22545	0.052836567	0.08782	0.09882642	0.23315	0.043405045	0.05393	-3.791	0.21328	T	.	.	0.077	0.07272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.163191	0.03284	0.564	0.26450865337110768	0.01267	0.06425	0.12430	N	AEFDBCI	0.060385	0.11471	N	-1.18329923690612	0.05252	0.2389972	-1.24906822791398	0.05144	0.2444453	0.99871367089653	0.37518	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	-0.977	0.09757	-0.197000	0.09519	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2024:0.365:0.3221:0.1105	2.255	0.03805	889	0.27310	.;.;.;.;.;.;.;.	ZNF496	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039778	0.040404	0.035326	0.038012	0.050000	0.017241	0.048780	0.034091	0.07895	14872.8	334	chr1	247425556	.	C	A	14872.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.263;DP=1449;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.79;ReadPosRankSum=-1.304;SOR=0.715	GT:AD:DP:GQ:PL	0/1:126,140:266:99:3723,0,3344	17	1	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	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	.	.	.	.	.	.	.	.	0.154	.	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	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.7105	59601.6	170	chr2	44320435	.	G	A	59601.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-1.741;DP=2554;ExcessHet=0.5777;FS=2.192;InbreedingCoeff=0.1044;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=24.75;ReadPosRankSum=-0.248;SOR=0.901	GT:AD:DP:GQ:PL	0/1:84,70:154:99:1940,0,2402	2	10	7	0
chr2	48755591	48755591	C	T	exonic	LHCGR	.	synonymous SNV	LHCGR:NM_000233:exon1:c.G81A:p.E27E	Leydig cell adenoma, somatic, with precocious puberty;Leydig cell hypoplasia with hypergonadotropic hypogonadism, Autosomal recessive;Leydig cell hypoplasia with pseudohermaphroditism, Autosomal recessive;Luteinizing hormone resistance, female, Autosomal recessive;Precocious puberty, male, Autosomal dominant	9	1509	4	0	0	4	0.00132363	.	.	.	290216	Leydig_cell_agenesis|Gonadotropin-independent_familial_sexual_precocity|Hypergonadotropic_hypogonadism	MONDO:MONDO:0009384,MedGen:C0266432,OMIM:238320|MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|Human_Phenotype_Ontology:HP:0000815,Human_Phenotype_Ontology:HP:0008679,MedGen:C0948896	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	8.141e-05	0	0	0	.	0	0	0.0001	1.94e-05	3	154602	rs527550554	3.174e-05	3.078e-05	2.42e-05	3.948e-05	0.0027	2.406e-05	2.143e-05	0.0015	0.0012	0.0004	0	0	0	0	0.0027	9.279e-06	0.0001	6.326e-05	3.943e-05	3.937e-05	3.858e-05	4.032e-05	7.224e-05	1.716e-05	1.13e-05	1.915e-05	1.031e-05	7.224e-05	0	6.544e-05	0	0	0	0.0034	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2472.83	34	chr2	48755591	.	C	T	2472.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.558;DP=808;ExcessHet=0.119;FS=1.823;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.876;SOR=0.552	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1304,0,1251	17	0	2	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	14153.8	45	chr2	69326243	.	GA	G	14153.8	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.541;DP=1148;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1634;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.436;SOR=0.712	GT:AD:DP:GQ:PL	1/1:3,35:43:47:887,47,0	4	7	8	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|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8	1517.02	1	chr2	113062899	.	T	C	1517.02	.	AC=24;AF=0.8;AN=30;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.5615;MLEAC=28;MLEAF=0.933;MQ=60;QD=27.69;SOR=2.419	GT:AD:DP:GQ:PL	1/1:0,3:3:9:125,9,0	3	12	0	4
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|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8182	1098.78	1	chr2	113062953	.	A	G	1098.78	.	AC=18;AF=0.818;AN=22;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.5186;MLEAC=25;MLEAF=1;MQ=60;QD=28.07;SOR=1.942	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0	2	9	0	8
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8	823.76	2	chr2	113063003	.	C	A	823.76	.	AC=16;AF=0.8;AN=20;DP=30;ExcessHet=0;FS=0;InbreedingCoeff=0.4692;MLEAC=23;MLEAF=1;MQ=60;QD=32.51;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0	2	8	0	9
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	103	1312	92	15	0	122	0.0444283	.	.	.	283664	Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	555.03	4	chr2	113133033	.	C	T	555.03	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.28;DP=122;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.1342;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=19.14;ReadPosRankSum=0;SOR=0.73	GT:AD:DP:GQ:PL	0/1:2,2:4:70:70,0,70	14	1	4	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	5687.97	23	chr2	151546001	.	T	TA	5687.97	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:13,12:27:99:202,0,195	3	0	16	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1450,0,1481	16	1	2	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14341.5	13	chr2	169294717	.	TAAA	T	14341.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.42;DP=1669;ExcessHet=0;FS=2.109;InbreedingCoeff=nan;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=0.704;SOR=1.372	GT:AD:DP:GQ:PL	1/0:0,7:20:12:488,110,84	7	0	12	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	8839.14	16	chr2	171448665	.	C	CT	8839.14	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.098;DP=746;ExcessHet=0.6984;FS=5.396;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.17;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:93:1|1:171448665_C_CT:1236,93,0:171448665	8	3	8	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	10652.2	16	chr2	171448667	.	C	T	10652.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.655;DP=763;ExcessHet=0.6984;FS=3.571;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=0.719;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:93:1|1:171448665_C_CT:1236,93,0:171448665	8	3	8	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	11519.8	34	chr2	171458134	.	AT	A	11519.8	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.019;DP=1232;ExcessHet=6.1876;FS=1.363;InbreedingCoeff=-0.2955;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.039;SOR=0.548	GT:AD:DP:GQ:PL	1/1:0,45:48:99:1300,143,0	7	2	10	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	28915.5	65	chr2	174750180	.	CA	C	28915.5	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.339;DP=1602;ExcessHet=0;FS=1.661;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.186;SOR=0.504	GT:AD:DP:GQ:PL	0/1:1,20:61:99:1503,804,666	10	0	9	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1316	668.83	7	chr2	178431939	.	T	C	668.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.286;DP=155;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1811;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,5:11:99:139,0,216	14	0	5	0
chr2	178557942	178557942	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon156:c.C60217A:p.P20073T,TTN:NM_133432:exon157:c.C60592A:p.P20198T,TTN:NM_133437:exon157:c.C60793A:p.P20265T,TTN:NM_133378:exon277:c.C79708A:p.P26570T,TTN:NM_001256850:exon278:c.C82489A:p.P27497T,TTN:NM_001267550:exon328:c.C87412A:p.P29138T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1511	10	1	0	12	0.00395517	.	.	.	56628	Tip-toe_gait|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.724	0.182721582318	8.3e-05	0.00219649	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0030	0.0010026	155	154602	rs72648227	0.0009	0.0009	0.0007	0.0010	0.0042	0.0008	0.0008	0.0038	0.0037	0.0001	0.0006	0.0070	2.519e-05	0.0017	0.0024	0.0005	0.0011	0.0042	0.0009	0.0009	0.0007	0.0011	0.0048	0.0008	0.0007	0.0033	0.0028	0.0001	0	0.0018	0.0078	0	0.0013	0	0.0005	0.0005	0.0048	0.006	0.91255	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.12	0.86283	D	-5.87	0.94223	D	0.504	0.73285	0.956	0.96482	D	0.872	0.95731	D	9	0.010123581	0.00226	T	0.182722	0.85639	D	0.724	0.90280	.	.	0.729987623446	0.72758	.	.	0.487905608832	0.47607	0.641880512238	0.58832	T	.	.	.	-0.159127	0.26894	T	-0.0031417	0.70132	D	0.0713008449434733	0.08833	T	0.972803	0.94559	D	.	.	.	.	.	.	.	.	-13.793	0.92364	D	.	.	0.988	0.93009	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.908996	0.38583	20.8	0.90053429235007454	0.19339	0.94304	0.60741	D	AEFBHCI	0.924000	0.90134	D	1.06393502832342	0.97406	16.07503	0.982192047283936	0.98253	17.79259	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	5.63	5.63	0.86108	8.133000	0.89497	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	20.040	0.97574	462	0.78611	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2157.33	33	chr2	178557942	.	G	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.156;DP=868;ExcessHet=0;FS=11.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.95;SOR=0.451	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2171,0,2091	18	0	1	0
chr2	178652905	178652905	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38902T:p.P12968S	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	2	1511	8	1	0	10	0.00329815	.	.	.	238501	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00890477763684	0.0002	0.00259585	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0032	0.0010155	157	154602	rs192528655	0.0008	0.0008	0.0007	0.0010	0.0041	0.0008	0.0008	0.0037	0.0036	9.087e-05	0.0006	0.0070	2.529e-05	0.0016	0.0023	0.0005	0.0011	0.0041	0.0009	0.0009	0.0007	0.0011	0.0056	0.0008	0.0007	0.0040	0.0034	0.0001	0	0.0017	0.0081	0	0.0013	0	0.0005	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	0.0061616898	0.00139	T	0.008905	0.23463	T	.	.	.	.	0.647246297556	0.64432	.	.	.	.	.	.	.	.	.	.	-0.473537	0.00808	T	-0.455085	0.27137	T	.	.	.	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725460	0.10947	7.612	0.50825434023128024	0.04453	0.19936	0.20852	N	AEFBI	0.230008	0.35345	N	.	.	.	.	.	.	0.0160283788976358	0.12783	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.66	3.76	0.42368	0.930000	0.28458	.	.	-0.126000	0.13398	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.1797:0.1665:0.6538:0.0	5.413	0.15659	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1480.33	33	chr2	178652905	.	G	A	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=755;ExcessHet=0;FS=6.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=2.34;SOR=0.4	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1494,0,1611	18	0	1	0
chr2	181678271	181678271	G	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C590A:p.P197H	Maturity-onset diabetes of the young 6	0	1430	90	2	0	94	0.0318213	.	.	.	135209	not_specified|Maturity-onset_diabetes_of_the_young_type_6|Monogenic_diabetes|Hypoinsulinemia|not_provided	MedGen:CN169374|MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0040216,MedGen:C2748055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	.	0.0193	0.00958466	0.0190	0.0035	0.0229	0.0003	0.0011	0.0243	0.0209	0.0210	0.0189325	2927	154602	rs8192556	0.0224	0.0224	0.0222	0.0227	0.0394	0.0222	0.0222	0.0352	0.0335	0.0028	0.0182	0.0467	0.0002	0.0034	0.0394	0.0243	0.0235	0.0215	0.0160	0.0160	0.0172	0.0147	0.0250	0.0154	0.0152	0.0240	0.0236	0.0039	0.0011	0.0128	0.0533	0.0002	0.0031	0.0374	0.0250	0.0227	0.0193	0.034	0.44029	D	0.329	0.18617	T	0.467	0.36479	P	0.246	0.38861	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.16	0.65378	T	-3.57	0.68999	D	0.178	0.19190	-0.7009	0.60395	T	0.127	0.43277	T	10	0.005200088	0.00113	T	.	.	.	0.211	0.50185	.	.	.	.	0.6523947154151004	0.65175	1.42890423072	0.85769	0.706838607788	0.68135	T	0.432405	0.78019	T	-0.36366	0.03927	T	-0.271464	0.47672	T	0.0225593479104315	0.00972	T	0.911409	0.68582	D	0.43709826	0.63214	0.53251684	0.72988	0.43709826	0.63215	0.53251684	0.72988	-6.775	0.52373	T	0.4196720632099966	0.50863	0.869	0.80809	P	.	.	3.520050	0.49340	22.8	0.97725238709885853	0.35585	0.20757	0.21158	N	AEFDBHCI	0.921241	0.89443	D	0.480884192017316	0.65974	4.890575	0.588032692958553	0.74081	6.076715	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	6.02	6.02	0.97559	5.756000	0.68414	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.111	0.93299	854	0.34840	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029738	0.030303	0.039402	0.029240	0.050000	0.051724	0.024540	0.018939	0.1053	8430.41	41	chr2	181678271	.	G	T	8430.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.021;DP=945;ExcessHet=0.0101;FS=0.864;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=22.07;ReadPosRankSum=-0.691;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3863,325,0	16	1	2	0
chr2	188994709	188994709	T	-	intronic	COL3A1	.	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	2	167	53	4	0	61	0.15443	.	.	.	196782	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_type_4|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2166	.	0.3055	0.2236	0.2985	0.2936	0.2296	0.3440	0.3131	0.2426	0.0088366	230	26028	rs1300602712	0.1940	0.2215	0.1971	0.1910	0.2237	0.1933	0.1930	0.2123	0.2078	0.1050	0.1481	0.2419	0.1384	0.1439	0.2237	0.2090	0.1879	0.0986	0.1109	0.1107	0.1140	0.1077	0.1459	0.1095	0.1089	0.1435	0.1425	0.0552	0.2230	0.1183	0.1937	0.0715	0.0877	0.1857	0.1459	0.1425	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2777.47	33	chr2	188994708	.	CT	C	2777.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.147;DP=877;ExcessHet=0.3672;FS=3.087;InbreedingCoeff=-0.0858;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.696;SOR=0.541	GT:AD:DP:GQ:PL	0/1:45,36:85:99:695,0,988	17	0	2	0
chr2	201209363	201209363	A	T	exonic	CASP10	.	nonsynonymous SNV	CASP10:NM_001206524:exon7:c.A1015T:p.I339L,CASP10:NM_001206542:exon7:c.A1087T:p.I363L,CASP10:NM_001230:exon7:c.A1087T:p.I363L,CASP10:NM_032974:exon9:c.A1216T:p.I406L,CASP10:NM_032977:exon9:c.A1216T:p.I406L	Autoimmune lymphoproliferative syndrome, type II, Autosomal dominant;Gastric cancer, somatic;Lymphoma, non-Hodgkin, somatic	0	1513	9	0	0	9	0.0029654	.	.	.	283866	not_provided|Hypomyelination_and_Congenital_Cataract|Autoimmune_lymphoproliferative_syndrome_type_2A	MedGen:C3661900|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163|MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909,Orphanet:3261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	.	0.0026	0.00479233	0.0049	0.0005	0.0010	0	0.0051	0.0044	0.0066	0.0151	0.0046636	721	154602	rs80358239	0.0044	0.0044	0.0040	0.0048	0.0150	0.0043	0.0043	0.0143	0.0140	0.0004	0.0013	0.0019	0	0.0049	0.0036	0.0040	0.0039	0.0150	0.0034	0.0034	0.0034	0.0034	0.0139	0.0031	0.0030	0.0113	0.0103	0.0004	0	0.0014	0.0014	0	0.0039	0	0.0052	0.0028	0.0139	0.144	0.28026	T	0.496	0.22494	T	0.202	0.47796	B	0.228	0.50090	B	0.106479	0.02597	N	1.767010	1	0.08975	N	0.385	0.12166	N	2.29	0.17113	T	-0.96	0.26200	N	0.139	0.25130	-1.0013	0.29545	T	0.027	0.11574	T	10	0.006909907	0.00157	T	.	.	.	0.267	0.58126	0.569	0.69167	0.370424759081	0.36655	0.23218510815205856	0.23133	0.078089185992	0.08789	0.315587550402	0.12752	T	0.034476	0.23338	T	-0.456726	0.01030	T	-0.416508	0.31477	T	0.000736261959413802	0.00007	T	0.765423	0.45334	T	0.11972358	0.28185	0.06245331	0.12222	0.13420628	0.31190	0.072225735	0.15557	-1.242	0.01312	T	0.2821639316482911	0.37763	0.154	0.34383	B	.;.;.;.;.	.;.;.;.;.	0.228888	0.06102	2.548	0.83785163860430634	0.14918	0.22508	0.21770	N	AEFDGBCI	0.092519	0.18731	N	-1.10262030248123	0.06596	0.3041041	-1.15610378063068	0.06659	0.3212677	0.997672082506346	0.35891	0.615465	0.37627	0	0.624146	0.53433	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.97	-0.462	0.11560	-1.204000	0.03127	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5325:0.0:0.3425:0.1249	5.263	0.14899	585	0.69300	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1311.33	37	chr2	201209363	.	A	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=797;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.343;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1325,0,1279	18	0	1	0
chr2	218814154	218814154	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon6:c.C1151T:p.P384L	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1375	136	11	0	158	0.0543329	.	.	.	76739	not_specified|Cholestanol_storage_disease|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.706	.	0.0185	0.00858626	0.0188	0.0043	0.0085	0.0002	0.0033	0.0237	0.0287	0.0305	0.0184215	2848	154602	rs41272687	0.0210	0.0210	0.0201	0.0219	0.0321	0.0208	0.0207	0.0311	0.0307	0.0036	0.0090	0.0606	5.038e-05	0.0046	0.0296	0.0215	0.0236	0.0321	0.0153	0.0153	0.0161	0.0144	0.0302	0.0147	0.0145	0.0262	0.0247	0.0048	0.0011	0.0122	0.0662	0.0004	0.0035	0.0204	0.0218	0.0171	0.0302	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.107590	1	0.81001	D	3.485	0.92608	M	-0.89	0.74793	T	-8.96	0.98008	D	0.304	0.34336	0.102	0.84217	D	0.405	0.75494	T	10	0.01014173	0.00227	T	.	.	.	0.706	0.89468	.	.	.	.	0.7685931894027043	0.76808	0.718227317278	0.62082	0.659238398075	0.61300	T	0.789706	0.94524	D	-0.270528	0.11699	T	-0.136996	0.60378	T	0.11918224549788	0.14350	T	0.893211	0.63049	D	0.86496913	0.88467	0.8525277	0.91674	0.84357893	0.86867	0.8265389	0.89961	-10.334	0.75887	D	.	.	0.150	0.33226	B	.	.	4.776233	0.77372	26.7	0.998816009000558	0.95733	0.99245	0.93370	D	AEFDBI	0.969073	0.99150	D	0.873247694114172	0.90388	10.38185	0.80346255499055	0.90031	10.22696	0.999999999999579	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.760000	0.84095	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.0:1.0:0.0:0.0	18.974	0.92704	877	0.30165	.	.	.	.	.	rs41272687	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	0.025176	0.000000	0.013587	0.008772	0.050000	0.043103	0.060976	0.037879	0.05263	2124.83	37	chr2	218814154	.	C	T	2124.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.75;DP=757;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.803;SOR=0.735	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1082,0,1082	17	0	2	0
chr2	227025788	227025788	A	G	intronic	COL4A4	.	.	.	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	9	1505	8	0	0	8	0.00265076	.	.	.	250590	not_provided|not_specified|Alport_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0021	0.00159744	0.0024	0.0003	0.0009	0	0.0032	0.0033	0.0056	0.0019	0.0023803	368	154602	rs147376687	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0035	0.0034	0.0004	0.0009	7.66e-05	2.521e-05	0.0033	0.0010	0.0036	0.0028	0.0020	0.0021	0.0021	0.0022	0.0020	0.0034	0.0019	0.0018	0.0031	0.0029	0.0006	0	0.0008	0	0	0.0024	0.0034	0.0034	0.0028	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1088.33	35	chr2	227025788	.	A	G	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=750;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.329;SOR=1.002	GT:AD:DP:GQ:PL	0/1:61,42:103:99:1102,0,1467	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	22154.8	102	chr2	233681881	.	T	G	22154.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.327;DP=1664;ExcessHet=1.2994;FS=1.262;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.254;SOR=0.815	GT:AD:DP:GQ:PL	0/1:44,67:111:99:1639,0,1079	7	3	9	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	3857.85	16	chr2	233760233	.	C	CAT	3857.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.483;DP=405;ExcessHet=1.2994;FS=2.65;InbreedingCoeff=-0.0363;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0;SOR=0.366	GT:AD:DP:GQ:PL	0/1:6,4:10:99:120,0,196	7	3	9	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4210.29	29	chr3	15521729	.	T	TTG	4210.29	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.908;DP=686;ExcessHet=1.8686;FS=6.498;InbreedingCoeff=0.0129;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=-0.523;SOR=1.239	GT:AD:DP:GQ:PL	0/1:3,22:25:37:715,0,37	10	1	8	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	12741.0	20	chr3	27721936	.	G	GCGGCGC	12741.0	.	AC=26;AF=0.684;AN=38;BaseQRankSum=-0.839;DP=443;ExcessHet=0.0524;FS=2.607;InbreedingCoeff=0.3602;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=28.87;ReadPosRankSum=0.221;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18:18:54:.:.:767,54,0:.	3	10	6	0
chr3	53740333	53740333	G	C	exonic	CACNA1D	.	synonymous SNV	CACNA1D:NM_001128839:exon21:c.G2805C:p.L935L,CACNA1D:NM_001128840:exon21:c.G2805C:p.L935L,CACNA1D:NM_000720:exon22:c.G2865C:p.L955L	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	492816	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0006	0.0021	0.0007	0	0.0002	0.0005	0.0011	0	0.0004786	74	154602	rs150266932	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0.0007	0.0044	0	0.0005	0.0012	0.0003	0.0009	1.161e-05	0.0010	0.0010	0.0010	0.0010	0.0021	0.0009	0.0008	0.0017	0.0016	0.0021	0	0.0009	0.0037	0	0.0004	0	0.0005	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1113.33	33	chr3	53740333	.	G	C	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.419;DP=752;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.105;SOR=0.796	GT:AD:DP:GQ:PL	0/1:78,52:130:99:1127,0,1940	18	0	1	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293180	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	95762.0	329	chr3	149141200	.	C	CTT	95762.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:228,156:460:99:4398,0,7476	15	0	4	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	5192.91	35	chr3	160258644	.	G	GA	5192.91	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.423;DP=895;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.04;SOR=0.649	GT:AD:DP:GQ:PL	1/1:1,35:36:80:961,80,0	9	1	9	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005: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	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	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	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.5526	85232.2	375	chr4	6300980	.	C	T	85232.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.441;DP=4379;ExcessHet=0.1862;FS=0.605;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=22.78;ReadPosRankSum=-0.679;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,274:274:99:8968,822,0	5	7	7	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|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:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	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	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5789	63552.2	254	chr4	6301295	.	C	T	63552.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=1.58;DP=3316;ExcessHet=0.5308;FS=0.581;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.018;SOR=0.604	GT:AD:DP:GQ:PL	1/1:0,210:210:99:6985,630,0	4	7	8	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	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	31737.2	130	chr4	9783510	.	T	C	31737.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.592;DP=1781;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=59.93;MQRankSum=0;QD=20.95;ReadPosRankSum=0.468;SOR=0.649	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1321,0,1732	6	5	8	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	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	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.7632	94577.4	236	chr4	38797027	.	C	A	94577.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-0.546;DP=3688;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=53.96;MQRankSum=-8.634;QD=26.54;ReadPosRankSum=-0.324;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,207:207:99:7019,621,0	1	11	7	0
chr4	78407714	78407714	G	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon31:c.G4181C:p.G1394A,FRAS1:NM_025074:exon31:c.G4181C:p.G1394A	Fraser syndrome, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	294251	not_provided|FRAS1-related_disorder|Fraser_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00725144832426	0.0002	0.000399361	0.0004	0	0.0003	0	0	0.0002	0	0.0022	0.0003363	52	154602	rs376487875	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0.0003	0.0004	0	0	0.0014	0.0001	0.0003	0.0021	0.0001	0.0001	7.712e-05	0.0002	0.0017	9.148e-05	7.704e-05	0.0008	0.0006	0	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.956	0.02116	T	0.891	0.03806	T	.	.	.	.	.	.	0.000211	0.47681	D	0.193433	0.915415	0.40924	D	2.3	0.65703	M	0.98	0.42122	T	-2.38	0.52451	N	0.352	0.39356	-1.0778	0.07781	T	0.094	0.35711	T	10	0.016387403	0.00345	T	0.007251	0.19225	T	0.096	0.27654	.	.	0.623756596702	0.62070	0.34370543779316637	0.34284	.	.	0.294737279415	0.09619	T	.	.	.	-0.487109	0.00674	T	-0.477401	0.24724	T	0.0552540534065081	0.06400	T	0.887111	0.61998	D	.	.	.	.	.	.	.	.	-3.451	0.17096	T	.	.	0.122	0.25527	B	.;.	.;.	3.263703	0.44646	22.0	0.97181669393725256	0.32722	0.97129	0.72859	D	AEFBI	0.741485	0.68540	D	0.232006226449712	0.52755	3.447827	0.362243574555309	0.59248	4.101124	0.990138896119744	0.32050	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.67	4.82	0.61641	6.100000	0.71123	5.760000	0.49678	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0763:0.0:0.9237:0.0	13.133	0.58811	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2143.33	33	chr4	78407714	.	G	C	2143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.083;SOR=0.706	GT:AD:DP:GQ:PL	0/1:75,89:164:99:2157,0,1801	18	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	4256.78	157	chr5	256319	.	ACT	A	4256.78	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.636;DP=2025;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-12.78;QD=2.85;ReadPosRankSum=0.587;SOR=0.721	GT:AD:DP:GQ:PL	0/1:149,17:166:99:265,0,6205	10	0	9	0
chr5	13865765	13865765	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon27:c.A4258G:p.N1420D	Ciliary dyskinesia, primary, 3, with or without situs inversus	3	1510	8	1	0	10	0.00330033	.	.	YES	251750	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0432556220655	7.7e-05	0.00139776	0.0009	0.0002	0.0003	0	0	0.0003	0.0022	0.0047	0.0007438	115	154602	rs201841311	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	5.998e-05	0.0002	3.833e-05	2.523e-05	0	0.0023	0.0002	0.0006	0.0053	0.0003	0.0003	0.0003	0.0004	0.0060	0.0003	0.0002	0.0043	0.0037	0	0	0	0	0	0	0.0102	0.0002	0.0005	0.0060	0.379	0.11227	T	.	.	.	0.005	0.12996	B	0.02	0.19048	B	0.000000	0.84330	D	0.045740	1	0.81001	D	1.455	0.36767	L	0.19	0.60236	T	-3.29	0.65742	D	0.252	0.28498	-0.9249	0.44872	T	0.155	0.48653	T	10	0.0070150793	0.00160	T	0.043256	0.60889	D	0.125	0.34456	.	.	0.663333248432	0.66050	0.5991009772945112	0.59841	0.196928005881	0.22067	0.535254716873	0.43775	T	0.491452	0.81582	T	-0.430938	0.01463	T	-0.391523	0.34372	T	0.0242356835716743	0.01174	T	0.905309	0.66640	D	0.486553	0.66296	0.442763	0.67516	0.486553	0.66297	0.442763	0.67516	-5.55	0.42333	T	0.2316409542714556	0.31348	0.163	0.35931	B	.	.	2.868385	0.37918	20.6	0.99324492742501602	0.59507	0.96846	0.71256	D	AEFI	0.704140	0.65995	D	-0.0866129141540228	0.37978	2.217524	0.124592617311679	0.45810	2.837629	0.999999966683134	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	3.535000	0.53331	6.166000	0.54416	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.328	0.82823	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1000.33	33	chr5	13865765	.	T	C	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.795;DP=798;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.645;SOR=1.014	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1014,0,1115	18	0	1	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7231.25	39	chr5	38528849	.	GAC	G	7231.25	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,20:39:99:.:.:607,0,503:.	6	0	13	0
chr5	78181507	78181507	C	T	exonic	AP3B1	.	synonymous SNV	AP3B1:NM_001271769:exon8:c.G795A:p.A265A,AP3B1:NM_003664:exon8:c.G942A:p.A314A	Hermansky-Pudlak syndrome 2, Autosomal recessive	48	1470	4	0	0	4	0.0013587	0.9998	0.974	YES	300376	not_specified|not_provided|Hermansky-Pudlak_syndrome_2	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00199681	0.0014	0.0002	0.0089	0.0041	0.0012	0.0003	0.0011	0.0002	0.0014295	221	154602	rs146871001	0.0006	0.0006	0.0006	0.0006	0.0093	0.0006	0.0006	0.0086	0.0083	8.971e-05	0.0093	0.0004	0.0065	0.0004	0.0005	8.909e-05	0.0008	0.0003	0.0011	0.0011	0.0009	0.0013	0.0073	0.0009	0.0009	0.0055	0.0048	0.0005	0	0.0056	0.0009	0.0073	9.445e-05	0	0.0002	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.05263	1647.83	34	chr5	78181507	.	C	T	1647.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.993;DP=704;ExcessHet=0.119;FS=0.702;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.392;SOR=0.61	GT:AD:DP:GQ:PL	0/1:27,48:75:99:1282,0,615	17	0	2	0
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.02632	854.33	34	chr5	87363477	.	A	G	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=737;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.68;SOR=0.637	GT:AD:DP:GQ:PL	0/1:51,43:94:99:868,0,1180	18	0	1	0
chr5	132588018	132588018	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon7:c.G980A:p.R327H	Nijmegen breakage syndrome-like disorder	0	1478	40	4	0	48	0.0159787	.	.	.	45934	not_specified|not_provided|RAD50-related_disorder|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.00635168319595	0.0024	0.00299521	0.0035	0.0007	0.0017	0.0003	0.0005	0.0039	0.0056	0.0079	0.0032794	507	154602	rs28903091	0.0026	0.0026	0.0023	0.0029	0.0080	0.0025	0.0025	0.0075	0.0073	0.0003	0.0017	0.0156	0.0001	0.0007	0.0078	0.0021	0.0038	0.0080	0.0022	0.0022	0.0023	0.0022	0.0068	0.0020	0.0020	0.0050	0.0044	0.0003	0	0.0010	0.0164	0	0.0006	0.0170	0.0030	0.0033	0.0068	0.063	0.36709	T	0.022	0.57587	D	0.994	0.66517	D	0.742	0.55764	P	0.000000	0.84330	D	0.049899	0.999994	0.58761	D	2.135	0.59519	M	3.06	0.08634	T	-2.47	0.53898	N	0.233	0.26233	-1.1840	0.00314	T	0.054	0.23034	T	10	0.0049374104	0.00106	T	0.006352	0.16696	T	0.206	0.49396	.	.	0.70759724671	0.70505	0.16685029423054523	0.16605	.	.	0.408416152	0.26237	T	0.276572	0.64916	T	-0.435264	0.01379	T	-0.393016	0.34198	T	0.0320217662024938	0.02310	T	0.907909	0.67446	D	0.27434513	0.50500	0.18635133	0.41803	0.27434513	0.50500	0.18635133	0.41802	-4.033	0.24296	T	0.5587478134398542	0.62667	0.104	0.19032	B	.;.;.;.;.	.;.;.;.;.	4.437000	0.68853	25.3	0.99926647966361482	0.99103	0.95974	0.66966	D	AEFBI	0.704112	0.65993	D	0.690279706738146	0.78997	6.985285	0.692445739575504	0.81805	7.613241	0.999999063309146	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	6.215000	0.72150	8.558000	0.77555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.799	0.88492	831	0.39019	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1049.33	33	chr5	132588018	.	G	A	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.622;DP=696;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.479;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1063,0,978	18	0	1	0
chr5	137621778	137621779	AC	-	UTR3	KLHL3	NM_001257194:c.*320_*319delGT;NM_001257195:c.*320_*319delGT;NM_017415:c.*320_*319delGT	.	.	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	198	17	1	10	0	21	0.381818	.	.	.	295447	not_provided|Autosomal_dominant_pseudohypoaldosteronism_type_1	MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001229	19	154602	rs3839339	0.5955	0.4913	0.5950	0.5960	0.6139	0.5923	0.5910	0.6098	0.6081	0.5778	0.5607	0.5865	0.4989	0.6331	0.5928	0.6139	0.5961	0.5130	0.8291	0.8282	0.8340	0.8240	0.8789	0.8253	0.8237	0.8730	0.8705	0.8015	0.9372	0.7848	0.8130	0.5670	0.8739	0.8571	0.8789	0.8235	0.6780	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	758.25	2	chr5	137621777	.	TAC	T	758.25	.	AC=17;AF=0.654;AN=26;BaseQRankSum=0.967;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=0.6103;MLEAC=20;MLEAF=0.769;MQ=60;MQRankSum=0;QD=34.47;ReadPosRankSum=0.967;SOR=1.893	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0	4	8	1	6
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	PPP2R2B-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	19975.9	44	chr5	146878727	.	A	AGCTGCTGCTGCTGCT	19975.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.18;DP=1226;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=9;MLEAF=0.237;MQ=59.98;MQRankSum=0;QD=26.22;ReadPosRankSum=-0.488;SOR=0.734	GT:AD:DP:GQ:PL	0/1:0,17:43:99:2012,991,916	11	1	7	0
chr5	157319874	157319874	C	T	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon13:c.C1391T:p.T464M,CYFIP2:NM_001037333:exon14:c.C1469T:p.T490M,CYFIP2:NM_001291722:exon14:c.C1469T:p.T490M,CYFIP2:NM_014376:exon14:c.C1469T:p.T490M	.	.	.	.	.	.	.	.	.	.	YES	1316223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	0.291	0.0156012551625	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478391225	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	0	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0.0002	0	0	0	0	0	0.025	0.48642	D	0.08	0.42614	T	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.043296	1	0.81001	D	2.42	0.70002	M	1.9	0.23486	T	-3.1	0.63554	D	0.651	0.66443	-0.8901	0.48925	T	0.171	0.51261	T	10	0.75606763	0.75992	D	0.015601	0.36422	T	0.291	0.61040	0.817	0.93127	0.325710239843	0.32177	0.836620171706622	0.83622	1.28484987636	0.82633	0.85511636734	0.90384	D	0.286147	0.65893	T	0.0427674	0.57406	T	-0.176344	0.56860	T	0.972840487957001	0.69858	D	0.979502	0.92959	D	0.24469887	0.47421	0.18610467	0.41763	0.24469887	0.47421	0.18610467	0.41762	-11.336	0.81469	D	.	.	0.097	0.17742	B	.;.;.;.;.;.	.;.;.;.;.;.	4.402985	0.68047	25.2	0.99905110958785281	0.97576	0.96580	0.69853	D	AEFDBI	0.635337	0.61488	D	0.744061341293008	0.82518	7.782326	0.761866910191762	0.87042	9.087044	0.999999743115576	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.97	5.97	0.96935	6.048000	0.70674	7.634000	0.62871	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:0.8652:0.1348:0.0	15.859	0.78789	765	0.49814	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1936.33	33	chr5	157319874	.	C	T	1936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=753;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-2.021;SOR=0.779	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1950,0,1431	18	0	1	0
chr5	172454519	172454519	G	C	UTR5	SH3PXD2B	NM_001308175:c.-167C>G;NM_001017995:c.-167C>G	.	.	Frank-ter Haar syndrome, Autosomal recessive	604	714	108	96	0	300	0.173611	.	.	.	893952	Frank-Ter_Haar_syndrome|not_provided	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112436148	0.2879	0.1737	0.2868	0.2890	0.3021	0.2817	0.2792	0.2953	0.2925	0.1436	0.2857	0.2167	0.1533	0.3621	0.1800	0.3021	0.2541	0.1656	0.2811	0.2891	0.2859	0.2759	0.3464	0.2787	0.2778	0.3425	0.3410	0.2019	0.4053	0.2760	0.2721	0.1487	0.2680	0.3209	0.3464	0.2888	0.1827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2692	616.21	4	chr5	172454519	.	G	C	616.21	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-0.967;DP=50;ExcessHet=0.0379;FS=0;InbreedingCoeff=0.1882;MLEAC=10;MLEAF=0.385;MQ=60;MQRankSum=0;QD=29.34;ReadPosRankSum=0.967;SOR=1.358	GT:AD:DP:GQ:PL	1/1:0,8:8:24:332,24,0	8	2	3	6
chr6	2954589	2954589	C	T	intronic	SERPINB6	.	.	.	.	0	1516	6	0	0	6	0.00197498	0.0002	0.1	.	174493	Autosomal_recessive_nonsyndromic_hearing_loss_91|not_specified|not_provided	MONDO:MONDO:0013269,MedGen:C3150704,OMIM:613453,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000998403	0.0004	9.669e-05	0.0004	0	0	0.0003	0	0.0018	0.000414	64	154602	rs201080069	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	9.027e-05	0.0006	3.84e-05	2.523e-05	1.874e-05	0.0068	0.0002	0.0005	0.0017	0.0003	0.0003	0.0003	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	9.623e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	34	chr6	2954589	.	C	T	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=724;ExcessHet=0;FS=1.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.938;SOR=0.9	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1118,0,1239	18	0	1	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|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.2632	22641.2	45	chr6	6174633	.	G	A	22641.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.31;DP=2185;ExcessHet=6.9875;FS=0.533;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.563;SOR=0.738	GT:AD:DP:GQ:PL	0/1:98,103:201:99:2775,0,2303	9	0	10	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	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	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	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	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.7632	213407.0	523	chr6	7585734	.	G	C	213407.0	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.92;DP=8493;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=0.206;SOR=0.669	GT:AD:DP:GQ:PL	0/1:183,214:397:99:6096,0,4736	1	11	7	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|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|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	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	.	.	.	.	.	.	.	.	0.7105	33397.6	78	chr6	32039081	.	C	A	33397.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-0.074;DP=1336;ExcessHet=2.8258;FS=2.779;InbreedingCoeff=-0.1515;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.296;SOR=0.447	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1794,168,0	1	9	9	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	1326.15	152	chr6	32580272	.	T	C	1326.15	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.61;DP=2847;ExcessHet=0;FS=0;InbreedingCoeff=0.4412;MLEAC=2;MLEAF=0.067;MQ=39.59;MQRankSum=1.05;QD=29.62;ReadPosRankSum=0.616;SOR=2.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,31:32:51:1|1:32580272_T_C:1350,51,0:32580272	14	1	0	4
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	2126.6	5	chr6	42963889	.	GTTTA	G	2126.6	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.524;DP=118;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.2455;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=30.38;ReadPosRankSum=-1.036;SOR=1.3	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	5	8	6	0
chr6	49444686	49444686	G	A	exonic	MMUT	.	synonymous SNV	MMUT:NM_000255:exon9:c.C1629T:p.S543S	.	0	1482	38	2	0	42	0.0139721	.	.	YES	98589	Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency|not_specified|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00359425	0.0049	0.0011	0.0029	0	0.0008	0.0069	0.0066	0.0044	0.0048576	751	154602	rs150642856	0.0065	0.0065	0.0064	0.0065	0.0203	0.0064	0.0063	0.0173	0.0162	0.0010	0.0036	0.0079	2.52e-05	0.0008	0.0203	0.0073	0.0064	0.0043	0.0048	0.0048	0.0050	0.0046	0.0079	0.0045	0.0044	0.0073	0.0071	0.0011	0.0022	0.0043	0.0075	0	0.0008	0.0272	0.0079	0.0080	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012601	0.010101	0.009511	0.008772	0.050000	0.008621	0.018405	0.022727	0.05263	3041.83	35	chr6	49444686	.	G	A	3041.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=901;ExcessHet=0.119;FS=0.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.29;SOR=0.746	GT:AD:DP:GQ:PL	0/1:84,65:149:99:1540,0,1991	17	0	2	0
chr6	80200935	80200935	G	A	exonic	BCKDHB	.	synonymous SNV	BCKDHB:NM_000056:exon7:c.G744A:p.A248A,BCKDHB:NM_001318975:exon7:c.G534A:p.A178A,BCKDHB:NM_183050:exon7:c.G744A:p.A248A	Maple syrup urine disease, type Ib, Autosomal recessive	3	1517	2	0	0	2	0.000658762	0.0001	0.006	YES	609633	Maple_syrup_urine_disease|not_provided|BCKDHB-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0002	0	0	0	0	0.0003	0	0	0.0001876	29	154602	rs147719822	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0002	0	7.576e-05	1.874e-05	0.0014	0.0002	0.0002	3.486e-05	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	4.847e-05	0	0.0002	0	0	0	0	0.0005	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1868.83	41	chr6	80200935	.	G	A	1868.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.2;DP=838;ExcessHet=0.119;FS=1.91;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.076;SOR=0.887	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1141,0,1400	17	0	2	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	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	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.2368	20234.8	151	chr6	151615542	.	G	A	20234.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.394;DP=1745;ExcessHet=1.1637;FS=1.741;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.536;SOR=0.582	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1731,0,2104	11	1	7	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_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	.	.	.	.	.	.	.	.	0.048	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.4737	20501.2	34	chr6	159692840	.	A	G	20501.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.6;DP=1097;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=25;ReadPosRankSum=0.29;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2232,180,0	7	6	6	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.25	9626.11	127	chr6	170561964	.	G	A	9626.11	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=9;MLEAF=0.25;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,27:94:99:1|0:170561949_GCAA_G:4722,2518,2358:170561949	9	0	9	1
chr7	21600912	21600912	T	C	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon16:c.T3237C:p.L1079L	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	191781	not_specified|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0032	0.00159744	0.0030	0.0007	0.0026	0	0.0005	0.0041	0	0.0028	0.002956	457	154602	rs72657304	0.0036	0.0036	0.0036	0.0036	0.0041	0.0035	0.0035	0.0040	0.0040	0.0006	0.0039	0.0001	2.519e-05	0.0004	0.0019	0.0041	0.0035	0.0030	0.0031	0.0031	0.0032	0.0031	0.0058	0.0029	0.0028	0.0048	0.0044	0.0008	0.0417	0.0058	0	0	0.0004	0	0.0043	0.0061	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2745.33	38	chr7	21600912	.	T	C	2745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.858;DP=1710;ExcessHet=0;FS=0.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.159;SOR=0.751	GT:AD:DP:GQ:PL	0/1:103,117:220:99:2759,0,2639	18	0	1	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|DNAH11-related_disorder|not_provided	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	49728.2	112	chr7	21867834	.	G	GT	49728.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=0.584;DP=1766;ExcessHet=0.1862;FS=1.331;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=31.82;ReadPosRankSum=0.641;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,48:102:99:0|1:21867834_G_GT:1853,0,2115:21867834	5	7	7	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	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:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	7387.91	11	chr7	30633896	.	TA	T	7387.91	.	AC=15;AF=0.441;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	0/1:4,21:25:10:468,0,10	4	2	11	2
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2466.13	26	chr7	56019598	.	AC	A	2466.13	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.03;DP=613;ExcessHet=6.9875;FS=14.75;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=59.4;MQRankSum=-1.455;QD=7.03;ReadPosRankSum=-0.789;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,12:48:99:0|1:56019585_C_A:389,0,1476:56019585	9	0	10	0
chr7	74053321	74053322	TG	-	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303342	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0.0686	0.0344	0.0563	0.0396	0.0402	0.0484	0.0643	0.0295662	4571	154602	rs781811385	0.0510	0.0565	0.0508	0.0513	0.1009	0.0507	0.0506	0.0980	0.0968	0.1009	0.0498	0.0423	0.0930	0.0625	0.0521	0.0466	0.0556	0.0644	0.0472	0.0476	0.0460	0.0485	0.0883	0.0463	0.0459	0.0859	0.0849	0.0883	0.0180	0.0411	0.0304	0.0554	0.0424	0.0248	0.0256	0.0467	0.0503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	71919.5	110	chr7	74053320	.	CTG	C	71919.5	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.424;DP=4445;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=-0.236;SOR=0.711	GT:AD:DP:GQ:PL	0/1:0,57:133:99:4310,2039,1681	14	0	5	0
chr7	80663133	80663133	G	A	exonic	CD36	.	synonymous SNV	CD36:NM_001371080:exon3:c.G108A:p.P36P,CD36:NM_001127444:exon4:c.G573A:p.P191P,CD36:NM_001289908:exon4:c.G573A:p.P191P,CD36:NM_001289911:exon4:c.G345A:p.P115P,CD36:NM_001127443:exon5:c.G573A:p.P191P,CD36:NM_000072:exon6:c.G573A:p.P191P,CD36:NM_001001547:exon6:c.G573A:p.P191P,CD36:NM_001001548:exon6:c.G573A:p.P191P,CD36:NM_001371074:exon6:c.G573A:p.P191P,CD36:NM_001371075:exon6:c.G573A:p.P191P,CD36:NM_001371077:exon6:c.G573A:p.P191P,CD36:NM_001371078:exon6:c.G573A:p.P191P,CD36:NM_001371079:exon6:c.G471A:p.P157P,CD36:NM_001371081:exon6:c.G108A:p.P36P	Platelet glycoprotein IV deficiency, Autosomal recessive	0	1497	24	0	1	25	0.00795229	.	.	.	898429	Platelet-type_bleeding_disorder_10|not_provided	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0190	0.00878594	0.0191	0.0049	0.0055	0	0.0554	0.0263	0.0187	0.0039	0.0189972	2937	154602	rs5956	0.0245	0.0246	0.0250	0.0240	0.0278	0.0243	0.0242	0.0276	0.0275	0.0035	0.0054	0.0088	5.049e-05	0.0528	0.0043	0.0278	0.0179	0.0040	0.0186	0.0186	0.0182	0.0191	0.0281	0.0181	0.0178	0.0270	0.0266	0.0047	0.0165	0.0066	0.0075	0	0.0519	0	0.0281	0.0109	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005539	0.015152	0.004076	0.002924	0.000000	0.017241	0.012195	0.000000	0.02632	703.33	34	chr7	80663133	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=708;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.869;SOR=0.807	GT:AD:DP:GQ:PL	0/1:48,31:79:99:717,0,1155	18	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	20506.8	40	chr7	92499847	.	CA	C	20506.8	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.13;DP=1301;ExcessHet=0.3441;FS=1.826;InbreedingCoeff=0.1244;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.145;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,32:57:99:.:.:719,0,504:.	1	11	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	34711.6	68	chr7	103989356	.	T	TGCCGCC	34711.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.381;DP=1696;ExcessHet=1.0583;FS=0.653;InbreedingCoeff=0.0256;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.008;SOR=0.598	GT:AD:DP:GQ:PL	0/1:29,32:61:99:1245,0,1113	3	7	9	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	8109.15	51	chr7	114663436	.	A	AT	8109.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.586;DP=1014;ExcessHet=2.8258;FS=1.106;InbreedingCoeff=-0.1515;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.101;SOR=0.592	GT:AD:DP:GQ:PL	0/1:37,40:79:99:905,0,806	9	1	9	0
chr7	114690130	114690131	TT	-	UTR3	FOXP2	NM_148898:c.*204_*205delTT;NM_001172766:c.*204_*205delTT;NM_014491:c.*204_*205delTT;NM_148900:c.*204_*205delTT	.	.	Speech-language disorder-1, Autosomal dominant	1263	223	17	6	13	42	0.0610526	.	.	.	309389	Childhood_apraxia_of_speech|not_provided	MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2943	0.1519	0.2660	0.2459	0.5	0.3062	0.3085	0.2950	0.0001153	3	26028	rs1491483744	0.3016	0.2890	0.3046	0.2993	0.3328	0.2999	0.2992	0.3305	0.3295	0.1122	0.2560	0.2335	0.1858	0.3346	0.1654	0.3328	0.2969	0.2722	0.3343	0.3286	0.3380	0.3302	0.4557	0.3316	0.3305	0.4512	0.4494	0.1210	0.4123	0.3255	0.2964	0.1699	0.4509	0.2406	0.4557	0.3113	0.3274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	134.9	.	chr7	114690129	.	CTT	C	134.9	.	AC=2;AF=0.091;AN=22;DP=62;ExcessHet=0;FS=0;InbreedingCoeff=0.5038;MLEAC=2;MLEAF=0.091;MQ=60;QD=22.48;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,3:3:9:104,9,0	10	1	0	8
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	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|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:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8684	64745.1	153	chr7	127611134	.	T	G	64745.1	.	AC=33;AF=0.868;AN=38;BaseQRankSum=0.533;DP=2444;ExcessHet=1.3;FS=0.784;InbreedingCoeff=-0.1515;MLEAC=33;MLEAF=0.868;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=-0.083;SOR=0.559	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3207,312,0	0	14	5	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4118	3330.8	123	chr7	131505863	.	C	T	3330.8	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.702;DP=1547;ExcessHet=17.0548;FS=216.424;InbreedingCoeff=-0.6539;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.02;SOR=12.236	GT:AD:DP:GQ:PL	0/1:58,23:81:99:216,0,1086	3	0	14	2
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	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.3947	19020.8	34	chr7	142750561	.	C	T	19020.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.382;DP=2359;ExcessHet=20.8569;FS=4.813;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.13;MQRankSum=-9.393;QD=8.76;ReadPosRankSum=-0.895;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,38:126:99:.:.:1279,0,2539:.	4	0	15	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	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	.	.	.	.	.	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	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3684	10274.2	34	chr7	142750675	.	A	G	10274.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.342;DP=2628;ExcessHet=17.0548;FS=0.726;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.37;MQRankSum=-10.22;QD=4.35;ReadPosRankSum=-2.065;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,27:139:99:0|1:142750672_T_A:758,0,4612:142750672	5	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	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	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	8872.24	34	chr7	142750680	.	C	T	8872.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.64;DP=2512;ExcessHet=17.0548;FS=0.748;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.46;MQRankSum=-10.32;QD=3.97;ReadPosRankSum=-2.875;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,22:129:99:0|1:142750672_T_A:602,0,4423:142750672	5	0	14	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	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1316	1026.37	34	chr7	142750715	.	G	A	1026.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.31;DP=1545;ExcessHet=1.3;FS=1.882;InbreedingCoeff=-0.1513;MLEAC=5;MLEAF=0.132;MQ=58.4;MQRankSum=-10.18;QD=1.81;ReadPosRankSum=-3.298;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,9:95:19:.:.:19,0,2308:.	14	0	5	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	31068.8	36	chr7	142752476	.	G	C	31068.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.828;DP=4034;ExcessHet=20.8569;FS=2.82;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=58.26;MQRankSum=-10.26;QD=8.18;ReadPosRankSum=0.19;SOR=0.669	GT:AD:DP:GQ:PL	0/1:173,84:257:99:2664,0,4871	4	0	15	0
chr8	10623162	10623162	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C40T:p.R14C	Occult macular dystrophy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	898744	Occult_macular_dystrophy|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0905667406411	.	.	8.428e-05	0	0	0.0002	0	3.281e-05	0	0.0005	5.82e-05	9	154602	rs765708710	8.847e-05	9.303e-05	9.104e-05	8.586e-05	0.0004	7.557e-05	7.097e-05	0.0003	0.0003	3.016e-05	0.0002	0	0.0001	0	0	7.197e-05	1.686e-05	0.0004	7.234e-05	7.223e-05	5.143e-05	9.423e-05	0.0006	3.974e-05	3.13e-05	0.0002	9.014e-05	2.416e-05	0	0	0	0.0004	0	0	7.351e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999481	0.21117	N	2.14	0.59869	M	3.48	0.05130	T	-3.26	0.65397	D	0.442	0.48042	-1.0965	0.04542	T	0.040	0.17404	T	9	0.18187496	0.33439	T	0.090567	0.75543	D	0.107	0.30369	0.217	0.13788	0.540198931682	0.53672	0.20282355506801197	0.20199	.	.	0.493453919888	0.37918	T	0.385758	0.74708	T	-0.330421	0.06080	T	-0.392393	0.34271	T	0.260790705680847	0.23349	T	0.766023	0.39401	T	0.26337692	0.49402	0.18941575	0.42287	0.26337692	0.49402	0.18941575	0.42286	-5.939	0.45766	T	0.5542887075169105	0.62257	0.200	0.42332	B	.	.	4.631257	0.73641	26.0	0.99915165394301486	0.98379	0.76006	0.37246	D	AEFBI	0.343751	0.43947	N	0.419980678722513	0.62520	4.469379	0.355553317372067	0.58842	4.057528	0.995470869751805	0.34147	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.395000	0.73157	2.492000	0.32988	0.674000	0.70861	1.000000	0.71638	0.997000	0.33255	0.901000	0.43729	0.1027:0.0:0.8973:0.0	10.078	0.41546	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1589.33	40	chr8	10623162	.	G	A	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=803;ExcessHet=0;FS=5.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.936;SOR=1.103	GT:AD:DP:GQ:PL	0/1:85,62:147:99:1603,0,2103	18	0	1	0
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	not_provided|Roberts-SC_phocomelia_syndrome	MedGen:C3661900|MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	858.52	3	chr8	27803549	.	T	TAC	858.52	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.431;DP=85;ExcessHet=0.0013;FS=0;InbreedingCoeff=0.4121;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=33.02;ReadPosRankSum=-1.15;SOR=3.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3:4:24:.:.:96,0,24:.	13	2	2	2
chr8	93780595	93780595	A	G	exonic	TMEM67	.	synonymous SNV	TMEM67:NM_153704:exon8:c.A717G:p.V239V,TMEM67:NM_001142301:exon9:c.A474G:p.V158V	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	18	1502	2	0	0	2	0.000665336	.	.	.	253202	not_specified|Meckel-Gruber_syndrome|Joubert_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0.0002	0.0003	0	0	0.0001	0	6.057e-05	0.00011	17	154602	rs111991507	8.688e-05	8.687e-05	0.0001	7.013e-05	0.0010	7.421e-05	6.969e-05	0.0007	0.0006	0.0010	0.0002	0	2.52e-05	0	0.0005	3.327e-05	0.0006	6.956e-05	7.223e-05	7.218e-05	7.71e-05	6.714e-05	0.0002	3.969e-05	3.125e-05	7.873e-05	5.576e-05	0.0002	0	0	0	0	0	0.0034	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	906.33	33	chr8	93780595	.	A	G	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.288;DP=688;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.992;SOR=0.509	GT:AD:DP:GQ:PL	0/1:26,35:61:99:920,0,653	18	0	1	0
chr8	133116636	133116636	C	T	exonic	TG	.	synonymous SNV	TG:NM_003235:exon45:c.C7782T:p.I2594I	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	736461	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00179712	0.0014	0.0004	0.0011	0	0.0008	0.0019	0	0.0011	0.0015071	233	154602	rs139055416	0.0028	0.0028	0.0029	0.0026	0.0033	0.0027	0.0027	0.0032	0.0032	0.0002	0.0008	3.826e-05	0	0.0004	0.0019	0.0033	0.0029	0.0013	0.0017	0.0017	0.0018	0.0016	0.0028	0.0015	0.0015	0.0025	0.0024	0.0005	0.0143	0.0014	0	0	0.0003	0	0.0028	0.0005	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	2455.83	38	chr8	133116636	.	C	T	2455.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=785;ExcessHet=0.119;FS=1.145;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.561;SOR=0.6	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1011,0,1139	17	0	2	0
chr9	34514629	34514629	C	T	intronic	DNAI1	.	.	.	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	0.0001	0.024	.	319019	Kartagener_syndrome|Primary_ciliary_dyskinesia	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.124e-05	0	0	0	0	7.501e-05	0	0	3.23e-05	5	154602	rs774758389	6.567e-05	6.567e-05	6.125e-05	7.013e-05	8.453e-05	5.495e-05	5.107e-05	7.047e-05	6.54e-05	0	0	3.826e-05	0	0	0	8.453e-05	1.656e-05	0	1.313e-05	1.312e-05	1.284e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2574.33	34	chr9	34514629	.	C	T	2574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.7;DP=829;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-2.501;SOR=0.466	GT:AD:DP:GQ:PL	0/1:101,100:201:99:2588,0,2831	18	0	1	0
chr9	95150025	95150025	T	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon7:c.A584T:p.D195V,FANCC:NM_001243743:exon7:c.A584T:p.D195V,FANCC:NM_001243744:exon7:c.A584T:p.D195V	Fanconi anemia, complementation group C, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	138044	not_provided|Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|not_specified|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0032	0.00259585	0.0031	0.0007	0.0019	0	0.0002	0.0042	0.0023	0.0037	0.0030271	468	154602	rs1800365	0.0041	0.0041	0.0040	0.0041	0.0050	0.0040	0.0039	0.0044	0.0044	0.0008	0.0028	0.0031	2.519e-05	0.0005	0.0050	0.0045	0.0051	0.0034	0.0029	0.0029	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0032	0.0035	0	0.0008	0.0068	0.0047	0.0038	0.0023	0.004	0.65419	D	0.002	0.79402	D	0.992	0.64738	D	0.971	0.72444	D	0.000168	0.48594	D	0.175698	0.999999	0.58761	D	2.395	0.69210	M	0.43	0.56772	T	-5.58	0.86450	D	0.83	0.82559	-0.5256	0.67707	T	0.231	0.59719	T	10	0.027212769	0.00872	T	.	.	.	0.417	0.72705	.	.	0.869862672899	0.86860	0.4933194370742633	0.49252	0.402927746685	0.41237	0.38103300333	0.22403	T	0.508738	0.82589	D	-0.186631	0.22754	T	-0.0371334	0.67894	D	0.028442771770713	0.01753	T	0.893711	0.71716	D	0.4535079	0.64263	0.3693059	0.62203	0.43107343	0.62823	0.41695112	0.65764	-4.396	0.29503	T	0.7128875341775482	0.79330	0.269	0.50334	B	.;.;.	.;.;.	3.822049	0.55193	23.6	0.99328517196819688	0.59661	0.87078	0.46511	D	AEFI	0.471210	0.51685	N	0.491382671950936	0.66584	4.969212	0.405209269013319	0.61888	4.395473	0.999794922023249	0.43153	0.638212	0.43195	0	0.653731	0.59785	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.77	4.77	0.60425	4.533000	0.60328	5.887000	0.50713	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.174000	0.21107	0.0:0.0:0.0:1.0	12.202	0.53640	167	0.93508	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.011364	0.02632	1985.33	35	chr9	95150025	.	T	A	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.58;SOR=0.7	GT:AD:DP:GQ:PL	0/1:74,83:157:99:1999,0,1781	18	0	1	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	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	2895.72	4	chr10	8074278	.	G	GA	2895.72	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-0.407;DP=172;ExcessHet=0.0012;FS=0;InbreedingCoeff=0.5952;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-0.21;SOR=0.929	GT:AD:DP:GQ:PL	0/1:1,5:6:10:123,0,10	5	11	3	0
chr10	13288355	13288355	C	A	intronic	PHYH	.	.	.	Refsum disease, Autosomal recessive	0	1497	25	0	0	25	0.00828089	0.9985	0.872	.	195353	PHYH-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|not_provided|Phytanoyl-CoA_hydroxylase_deficiency|Phytanic_acid_storage_disease	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0100258,MedGen:CN305474|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.00119808	0.0014	0	0.0002	0	0.0005	0.0009	0.0033	0.0057	0.0011837	183	154602	rs201499815	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0010	0.0041	0.0040	0.0001	0.0003	0.0043	0	0.0003	0.0034	0.0008	0.0014	0.0045	0.0006	0.0006	0.0007	0.0006	0.0050	0.0005	0.0005	0.0034	0.0029	9.62e-05	0	0.0001	0.0035	0	0.0004	0.0034	0.0007	0.0019	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	935.33	34	chr10	13288355	.	C	A	935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.104;SOR=0.648	GT:AD:DP:GQ:PL	0/1:27,39:66:99:949,0,649	18	0	1	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	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.6053	12490.8	35	chr10	23193706	.	T	C	12490.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.33;DP=673;ExcessHet=10.2499;FS=0.629;InbreedingCoeff=-0.4319;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.143;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28:28:84:.:.:952,84,0:.	1	5	13	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.2105	10573.2	36	chr10	52771475	.	C	T	10573.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.579;DP=1271;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.116;SOR=0.655	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1271,0,1577	12	1	6	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	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|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20166.3	21	chr10	90918983	.	AATAAATAAATATATATAT	A	20166.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1;DP=684;ExcessHet=0.0125;FS=8.123;InbreedingCoeff=0.4682;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.83;ReadPosRankSum=1.04;SOR=0.229	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,39:40:76:1|1:90918983_AATAAATAAATATATATAT_A:1712,76,0:90918983	7	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9211	20063.0	23	chr10	123053169	.	AT	A	20063.0	.	AC=35;AF=0.921;AN=38;BaseQRankSum=0.756;DP=975;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=35;MLEAF=0.921;MQ=60;MQRankSum=0;QD=26.06;ReadPosRankSum=-0.156;SOR=0.653	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1242,135,0	0	16	3	0
chr11	640109	640109	A	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A860C:p.Q287P	Autonomic nervous system dysfunction (3)	523	971	19	1	8	29	0.0106979	.	.	.	1196077	not_specified|Hereditary_attention_deficit-hyperactivity_disorder|not_provided|DRD4-related_disorder	MedGen:CN169374|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.084	.	.	.	0.0918	0.5	0.1667	.	0	0.1923	0	0	0.0017917	277	154602	rs769762387	0.1063	0.0934	0.1108	0.1015	0.1211	0.1058	0.1055	0.1205	0.1202	0.1157	0.0188	0.0512	0.0011	0.0122	0.0407	0.1211	0.0778	0.0169	0.1111	0.1203	0.1161	0.1058	0.1524	0.1091	0.1083	0.1475	0.1455	0.1524	0.0723	0.1095	0.0983	0.0047	0.0967	0.0968	0.1107	0.0947	0.0321	0.187	0.21385	T	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.32	0.68181	T	-0.5	0.15782	N	0.097	0.07811	-0.9799	0.35025	T	0.171	0.51229	T	6	0.0014480054	0.00016	T	.	.	.	0.084	0.24469	.	.	0.107399877778	0.10242	0.36882967111492193	0.36796	0.343915624163	0.36316	0.533386111259	0.43513	T	.	.	.	-0.574786	0.00207	T	-0.480285	0.24416	T	0.00964762916747873	0.00125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00031	B	.	.	-0.293531	0.02646	0.336	0.15502331784184875	0.00382	0.01048	0.03908	N	AEFBI	0.131186	0.25003	N	-1.49389585525914	0.01893	0.08305123	-1.74504118575407	0.00952	0.04262861	0.999784558211461	0.43007	0.582742	0.33608	0	0.514364	0.08380	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	0.852	-1.7	0.07721	-3.055000	0.00688	-1.955000	0.04439	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2421:0.0:0.5759:0.182	4.802	0.12668	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0	0	0.027634	0.046875	0.020231	0.009009	0.062500	0.017241	0.064356	0.026667	0.1053	716.47	46	chr11	640109	.	A	C	716.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.037;DP=511;ExcessHet=0.7564;FS=5.349;InbreedingCoeff=-0.1184;MLEAC=4;MLEAF=0.105;MQ=59.82;MQRankSum=0;QD=5.92;ReadPosRankSum=0.753;SOR=0.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:205,0,962:.	15	0	4	0
chr11	1247307	1247307	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10427T:p.S3476L	.	436	1084	2	0	0	2	0.000921659	.	.	.	3377654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.000670523935588	0.0009	0.000998403	0.0021	0.0013	0.0010	0	0.0002	0.0034	0.0011	6.058e-05	0.0006531	17	26028	rs200237369	0.0011	0.0046	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0007	0.0004	0.0003	5.038e-05	0.0002	0.0005	0.0013	0.0007	6.964e-05	0.0014	0.0027	0.0015	0.0013	0.0020	0.0013	0.0012	0.0017	0.0016	0.0015	0.0033	0.0007	0	0	0.0003	0	0.0020	0.0005	0.0002	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.5	0.15782	N	0.054	0.02559	-1.0133	0.25880	T	0.034	0.14639	T	9	0.008140892	0.00185	T	6.71E-4	0.00383	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3778921272455703	0.37704	.	.	0.291973948479	0.09209	T	0.019382	0.15452	T	-0.608035	0.00130	T	-0.691729	0.06289	T	0.0188476063997962	0.00595	T	0.453055	0.12870	T	0.04009491	0.05660	0.055800963	0.09854	0.04009491	0.05660	0.055800963	0.09853	-9.23	0.69165	D	.	.	0.126	0.26794	B	.	.	0.558156	0.09265	6.049	0.60519443585822308	0.06483	0.00826	0.03330	N	AEFI	0.040760	0.06108	N	-1.51925413910876	0.01723	0.07542334	-1.69741881414829	0.01149	0.051674	7.3503208821387E-4	0.07723	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.16	-2.33	0.06340	-0.639000	0.05543	-6.979000	0.01259	-1.530000	0.00994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3952:0.3367:0.268	3.873	0.08548	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001656	0.000000	0.001362	0.004167	0.000000	0.008772	0.000000	0.000000	0.05263	3810.83	90	chr11	1247307	.	C	T	3810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.19;DP=2232;ExcessHet=0.119;FS=2.224;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=7.09;QD=10.36;ReadPosRankSum=1.45;SOR=0.76	GT:AD:DP:GQ:PL	0/1:74,93:167:99:2331,0,1771	17	0	2	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	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	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	.	.	.	.	.	.	.	.	0.7895	74441.6	127	chr11	2159830	.	T	G	74441.6	.	AC=30;AF=0.789;AN=38;BaseQRankSum=1.45;DP=2966;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=26.43;ReadPosRankSum=0.916;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,185:186:99:.:.:5158,517,0:.	2	13	4	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	611	857	47	7	0	61	0.0343662	.	.	.	30023	not_provided|Hereditary_persistence_of_fetal_hemoglobin|not_specified	MedGen:C3661900|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	340.27	2	chr11	5254939	.	G	A	340.27	.	AC=5;AF=0.147;AN=34;BaseQRankSum=0;DP=165;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.2012;MLEAC=6;MLEAF=0.176;MQ=53.73;MQRankSum=0.431;QD=8.1;ReadPosRankSum=0;SOR=0.497	GT:AD:DP:GQ:PL	0/1:6,4:10:99:103,0,163	12	0	5	2
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	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	13485.2	79	chr11	17408375	.	T	C	13485.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.477;DP=999;ExcessHet=1.9883;FS=0.562;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-1.189;SOR=0.772	GT:AD:DP:GQ:PL	0/1:35,19:54:99:548,0,978	5	4	10	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4522.1	9	chr11	17414293	.	A	G	4522.1	.	AC=27;AF=0.75;AN=36;BaseQRankSum=0.253;DP=216;ExcessHet=0.0524;FS=3.178;InbreedingCoeff=0.3136;MLEAC=28;MLEAF=0.778;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0.126;SOR=1.559	GT:AD:DP:GQ:PL	1/1:0,14:14:42:453,42,0	2	11	5	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	11266.2	36	chr11	17414389	.	G	A	11266.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.287;DP=593;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=0.284;SOR=0.65	GT:AD:DP:GQ:PL	1/1:0,20:20:60:790,60,0	4	7	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	15894.2	57	chr11	17414419	.	G	A	15894.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-1.201;DP=879;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.193;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1119,93,0	4	7	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7368	28817.0	97	chr11	17415389	.	A	G	28817.0	.	AC=28;AF=0.737;AN=38;BaseQRankSum=1.13;DP=1219;ExcessHet=0.0151;FS=0;InbreedingCoeff=0.4571;MLEAC=28;MLEAF=0.737;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.044;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1765,174,0	3	12	4	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K,ABCC8:NM_001287174:exon14:c.G1947A:p.K649K,ABCC8:NM_001351295:exon14:c.G2013A:p.K671K,ABCC8:NM_001351296:exon14:c.G1944A:p.K648K,ABCC8:NM_001351297:exon14:c.G1944A:p.K648K	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	1	1120	365	36	0	437	0.163242	.	.	YES	167534	Permanent_neonatal_diabetes_mellitus|Type_2_diabetes_mellitus|not_specified|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.123867	0.075758	0.101902	0.160819	0.050000	0.129310	0.094512	0.174242	0.05263	2701.83	33	chr11	17428382	.	C	T	2701.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=810;ExcessHet=0.119;FS=3.932;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.351;SOR=0.937	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1394,0,1483	17	0	2	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	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	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|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	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.4211	32289.9	190	chr11	17430945	.	G	A	32289.9	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.597;DP=1785;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=22.12;ReadPosRankSum=-0.168;SOR=0.777	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1264,0,1770	8	5	6	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297: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	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	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	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.5	60690.2	34	chr11	17474969	.	A	G	60690.2	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.118;DP=3073;ExcessHet=0.0125;FS=0.635;InbreedingCoeff=0.4737;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=-0.342;SOR=0.736	GT:AD:DP:GQ:PL	0/1:136,116:252:99:2785,0,3612	7	7	5	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	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	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3158	42743.9	296	chr11	89178528	.	C	A	42743.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.421;DP=3285;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.108;SOR=0.669	GT:AD:DP:GQ:PL	0/1:142,114:256:99:2959,0,3854	8	1	10	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	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|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:C0235996|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:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.1053	2951.43	62	chr11	89284793	.	G	A	2951.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.989;DP=735;ExcessHet=0.7564;FS=2.522;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=13.66;ReadPosRankSum=1.39;SOR=0.538	GT:AD:DP:GQ:PL	0/1:12,30:42:99:817,0,237	15	0	4	0
chr12	2679502	2679502	C	G	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129838:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129839:exon41:c.C5168G:p.A1723G,CACNA1C:NM_001129846:exon41:c.C5117G:p.A1706G,CACNA1C:NM_001167625:exon41:c.C5117G:p.A1706G,CACNA1C:NM_000719:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129829:exon42:c.C5273G:p.A1758G,CACNA1C:NM_001129830:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129833:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129834:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129835:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129836:exon42:c.C5201G:p.A1734G,CACNA1C:NM_001129840:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129841:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129842:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129843:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129844:exon42:c.C5141G:p.A1714G,CACNA1C:NM_001167623:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001167624:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129831:exon43:c.C5234G:p.A1745G,CACNA1C:NM_001129832:exon43:c.C5210G:p.A1737G,CACNA1C:NM_001129827:exon44:c.C5294G:p.A1765G,CACNA1C:NM_199460:exon44:c.C5294G:p.A1765G	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	1	1502	17	2	0	21	0.00694215	.	.	.	99318	Restrictive_cardiomyopathy|Long_QT_syndrome|not_specified|Timothy_syndrome|Brugada_syndrome_3|Neurodevelopmental_disorder_with_hypotonia,_language_delay,_and_skeletal_defects_with_or_without_seizures|Long_qt_syndrome_8|Brugada_syndrome|not_provided|CACNA1C-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:C3661900|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.0800406640615	.	0.000399361	0.0008	0	0.0009	0	0	0.0010	0.005	0.0007	0.0005821	90	154602	rs201492706	0.0006	0.0006	0.0006	0.0006	0.0085	0.0006	0.0006	0.0066	0.0059	0.0004	0.0013	0.0066	0	0	0.0085	0.0004	0.0013	0.0006	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0001	0	0.0010	0.0043	0	0	0	0.0005	0.0024	0.0002	0.059	0.41915	T	0.429	0.17372	T	0.0	0.19406	B	0.0	0.27651	B	0.382812	0.04431	N	1.360050	0.670638	0.30367	N	-0.205	0.04094	N	-3.87	0.96143	D	-1.06	0.28084	N	0.147	0.24135	-0.0047	0.82159	T	0.734	0.90894	D	10	0.0071842372	0.00163	T	0.080041	0.73371	D	0.267	0.58126	.	.	0.590116201424	0.58688	0.4280073591306489	0.42717	0.190823183694	0.21393	0.28883254528	0.08753	T	0.011992	0.19579	T	-0.297371	0.08911	T	-0.245481	0.50263	T	0.0210347424677146	0.00804	T	.	.	.	.	.	.	.	.	.	.	.	-3.897	0.22258	T	.	.	0.100	0.18746	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.393269	0.46987	22.4	0.99379360935189032	0.61803	0.92260	0.55304	D	AEFDBI	0.722037	0.67209	D	-0.324649992842567	0.28214	1.554398	-0.143969151558518	0.33640	1.926487	0.999909732106835	0.45458	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.64	3.72	0.41857	3.621000	0.53951	3.497000	0.38753	-0.305000	0.06155	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.1509:0.7123:0.1368:0.0	10.797	0.45666	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.030303	0.014946	0.020468	0.000000	0.008621	0.003049	0.000000	0.02632	1886.33	38	chr12	2679502	.	C	G	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.807;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.216;SOR=0.778	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1900,0,1238	18	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_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3421	2518.84	90	chr12	6018369	.	T	G	2518.84	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.118;DP=842;ExcessHet=13.8672;FS=7.854;InbreedingCoeff=-0.542;MLEAC=13;MLEAF=0.342;MQ=55.8;MQRankSum=-6.333;QD=3.86;ReadPosRankSum=1.54;SOR=0.316	GT:AD:DP:GQ:PL	0/1:29,24:53:99:519,0,701	6	0	13	0
chr12	6936728	6936728	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207990	Dentatorubral-pallidoluysian_atrophy|not_specified|not_provided	MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs782630098	0.0613	0.0616	0.0612	0.0614	0.1746	0.0609	0.0608	0.1711	0.1697	0.0200	0.0378	0.0348	0.1746	0.0210	0.0600	0.0613	0.0610	0.0697	0.0485	0.0495	0.0497	0.0473	0.1762	0.0476	0.0472	0.1663	0.1623	0.0228	0.0892	0.0464	0.0376	0.1762	0.0205	0.0243	0.0580	0.0408	0.0697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	30319.4	79	chr12	6936728	.	A	ACAGCAG	30319.4	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.939;DP=1487;ExcessHet=0.0524;FS=1.701;InbreedingCoeff=0.3603;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=33.76;ReadPosRankSum=-0.887;SOR=0.626	GT:AD:DP:GQ:PL	1/0:0,29:66:99:2642,1471,1385	14	3	2	0
chr12	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	30319.4	79	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	30319.4	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.939;DP=1487;ExcessHet=0.0524;FS=1.701;InbreedingCoeff=0.3603;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=33.76;ReadPosRankSum=-0.887;SOR=0.626	GT:AD:DP:GQ:PL	0/1:0,37:66:99:2642,1179,1431	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	11234.8	27	chr12	21174718	.	T	TA	11234.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.433;DP=1312;ExcessHet=10.2499;FS=0;InbreedingCoeff=-0.4258;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.352;SOR=0.734	GT:AD:DP:GQ:PL	0/1:21,20:41:99:313,0,418	2	0	17	0
chr12	21910317	21910317	-	A	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	54552	not_provided|Dilated_Cardiomyopathy,_Dominant|Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation	MedGen:C3661900|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0432	0.0626	0.0248	0.0504	0.0313	0.0394	0.0651	0.0612	0.0001153	3	26028	rs397517182	0.0468	0.0641	0.0466	0.0470	0.0796	0.0465	0.0464	0.0768	0.0756	0.0796	0.0411	0.0768	0.0586	0.0312	0.0791	0.0435	0.0548	0.0677	0.0267	0.0256	0.0261	0.0272	0.0465	0.0259	0.0256	0.0445	0.0437	0.0465	0.1444	0.0290	0.0405	0.0116	0.0065	0.0773	0.0160	0.0326	0.0255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4482.45	20	chr12	21910317	.	C	CA	4482.45	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.222;DP=787;ExcessHet=12.0371;FS=0;InbreedingCoeff=-0.4566;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.29;SOR=0.656	GT:AD:DP:GQ:PL	0/1:3,20:39:99:718,329,456	16	0	3	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	6535.2	10	chr12	47845054	.	C	A	6535.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.626;DP=348;ExcessHet=0.1862;FS=5.896;InbreedingCoeff=0.2547;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=1.02;SOR=0.353	GT:AD:DP:GQ:PL	1/1:0,17:17:51:615,51,0	5	7	7	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	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	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.7895	28523.7	90	chr12	47879112	.	A	G	28523.7	.	AC=30;AF=0.789;AN=38;BaseQRankSum=-0.359;DP=1240;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.867;SOR=0.663	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2166,225,0	1	12	6	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	Bardet-Biedl_syndrome|not_specified|not_provided|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.123867	0.070707	0.126359	0.160819	0.050000	0.137931	0.131098	0.128788	0.2368	21498.8	34	chr12	76346369	.	G	A	21498.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.283;DP=1399;ExcessHet=0.0031;FS=0;InbreedingCoeff=0.5632;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=23.68;ReadPosRankSum=-0.05;SOR=0.721	GT:AD:DP:GQ:PL	0/1:71,79:150:99:2141,0,1996	13	3	3	0
chr12	102894758	102894758	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon3:c.C329T:p.S110L,PAH:NM_001354304:exon4:c.C329T:p.S110L	Phenylketonuria, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	108387	Phenylketonuria|not_provided|not_specified	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MedGen:C3661900|MedGen:CN169374	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.717	0.74157850218	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199475627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.78490	T	0.303	0.41573	T	0.995	0.67487	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-5.82	0.99477	D	-2.97	0.64593	D	0.865	0.88798	1.097	0.99552	D	0.971	0.99091	D	10	0.8775118	0.87048	D	0.741579	0.97931	D	0.717	0.89966	0.739	0.87147	0.989255783203	0.98913	0.9366112122716002	0.93641	0.174382207677	0.19638	0.597045183182	0.52487	T	0.803764	0.95024	D	0.493634	0.94099	D	0.471295	0.94022	D	0.996010303497314	0.88504	D	0.947705	0.86792	D	0.6860279	0.77295	0.50490415	0.71383	0.7234998	0.79358	0.5213047	0.72344	-9.733	0.72297	D	0.11906291077299093	0.11051	0.220	0.66643	B	.;.;.;.	.;.;.;.	4.780102	0.77470	26.7	0.99921596244950794	0.98787	0.98887	0.88185	D	AEFBI	0.976166	0.99659	D	0.751359590905784	0.82994	7.902188	0.811781671974156	0.90600	10.48182	0.999999999999998	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	8.899000	0.92172	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	717	0.55835	Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;ACT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	33	chr12	102894758	.	G	A	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.614;DP=720;ExcessHet=0;FS=4.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.984;SOR=0.384	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1246,0,1288	18	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|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|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,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	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6053	34378.8	82	chr12	120978819	.	C	G	34378.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.693;DP=2079;ExcessHet=4.2649;FS=0;InbreedingCoeff=-0.2116;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.18;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3265,300,0	2	6	11	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	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|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:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	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	.	.	.	.	.	.	.	.	0.5263	45289.9	207	chr12	120997672	.	G	A	45289.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=1.6;DP=2635;ExcessHet=5.5644;FS=0.544;InbreedingCoeff=-0.2667;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.206;SOR=0.636	GT:AD:DP:GQ:PL	1/1:0,157:157:99:5053,471,0	3	4	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	12459.2	32	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	12459.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.195;DP=701;ExcessHet=1.9883;FS=6.156;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=59.95;MQRankSum=0;QD=26.68;ReadPosRankSum=-0.79;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,16:28:99:.:.:631,0,454:.	5	4	10	0
chr13	23355703	23355703	T	C	exonic	SACS	.	synonymous SNV	SACS:NM_001278055:exon6:c.A468G:p.A156A,SACS:NM_014363:exon8:c.A909G:p.A303A	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	254838	not_provided|Spastic_paraplegia|not_specified|Charlevoix-Saguenay_spastic_ataxia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	0.0360	0.0509185	0.0372	0.0201	0.0098	0.1458	0.0337	0.0363	0.0396	0.0155	0.0376903	5827	154602	rs41315020	0.0402	0.0402	0.0410	0.0394	0.1130	0.0399	0.0398	0.1102	0.1091	0.0188	0.0131	0.0251	0.1130	0.0328	0.0156	0.0419	0.0438	0.0159	0.0341	0.0341	0.0339	0.0342	0.1415	0.0333	0.0330	0.1330	0.1296	0.0195	0.0439	0.0235	0.0213	0.1415	0.0351	0.0136	0.0383	0.0430	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.014099	0.030303	0.012228	0.002924	0.050000	0.000000	0.030488	0.007576	0.02632	1725.33	35	chr13	23355703	.	T	C	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.762;DP=1134;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-2.818;SOR=0.88	GT:AD:DP:GQ:PL	0/1:56,68:124:99:1739,0,1469	18	0	1	0
chr13	51950017	51950017	T	C	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon8:c.A2234G:p.Q745R,ATP7B:NM_001330579:exon9:c.A2468G:p.Q823R,ATP7B:NM_001330578:exon10:c.A2486G:p.Q829R,ATP7B:NM_000053:exon11:c.A2720G:p.Q907R,ATP7B:NM_001243182:exon12:c.A2387G:p.Q796R	Wilson disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1892266	Wilson_disease	MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.906	0.666232709841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	-2.76	0.90848	D	-3.68	0.70314	D	0.859	0.85554	0.950	0.96396	D	0.869	0.95640	D	10	0.9642396	0.95877	D	0.666233	0.97206	D	0.906	0.97436	0.833	0.94168	0.983135688421	0.98294	0.8721428718385182	0.87180	0.377055545769	0.39141	0.777239918709	0.78512	T	0.912285	0.98358	D	0.438938	0.91970	D	0.392727	0.91871	D	0.992934226989746	0.83554	D	0.968203	0.92669	D	0.9533338	0.96605	0.9170375	0.96189	0.9533338	0.96605	0.9170375	0.96189	-13.021	0.89451	D	0.7551953780005498	0.83719	0.867	0.85936	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.417177	0.68379	25.2	0.99537424974376809	0.70274	0.97978	0.78588	D	AEFDBI	0.937174	0.93456	D	0.724379479852808	0.81230	7.473862	0.731495061575251	0.84771	8.385505	0.999999999999996	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.73	5.73	0.89730	7.930000	0.87066	7.805000	0.69260	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.013	0.80214	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1458.33	35	chr13	51950017	.	T	C	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=763;ExcessHet=0;FS=4.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.765;SOR=1.185	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1472,0,1032	18	0	1	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2573.36	16	chr14	45159080	.	TTA	T	2573.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0;DP=550;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	0/1:8,12:20:99:391,0,247	13	0	6	0
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	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	0	0	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.2368	22981.8	37	chr14	61740839	.	C	T	22981.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.447;DP=1945;ExcessHet=1.1637;FS=0.525;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.153;SOR=0.646	GT:AD:DP:GQ:PL	0/1:82,107:189:99:2788,0,2026	11	1	7	0
chr14	88610948	88610972	TTCAAATTCGTTTTTCTCATGTCAG	-	intronic	ZC3H14	.	.	.	Mental retardation, autosomal recessive 56, Autosomal recessive	2	1476	40	4	0	48	0.016	.	.	.	248812	not_provided|Intellectual_disability,_autosomal_recessive_56	MedGen:C3661900|MONDO:MONDO:0014930,MedGen:C4310703,OMIM:617125	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0143	0.00599042	0.0098	0.0133	0.0036	0	0.0047	0.0131	0.0033	0.0061	0.0017673	46	26028	rs571303442	0.0130	0.0131	0.0133	0.0128	0.0154	0.0129	0.0128	0.0143	0.0142	0.0128	0.0045	0.0287	2.519e-05	0.0038	0.0154	0.0145	0.0122	0.0059	0.0111	0.0112	0.0118	0.0104	0.0127	0.0107	0.0105	0.0120	0.0117	0.0127	0.0493	0.0050	0.0291	0.0002	0.0031	0.0272	0.0127	0.0109	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5235.79	40	chr14	88610947	.	ATTCAAATTCGTTTTTCTCATGTCAG	A	5235.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=1009;ExcessHet=0.119;FS=2.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.092;SOR=0.53	GT:AD:DP:GQ:PL	0/1:66,65:131:99:2409,0,2503	17	0	2	0
chr14	88852966	88852966	C	T	intronic	TTC8	.	.	.	Bardet-Biedl syndrome 8, Autosomal recessive	1	1470	47	4	0	55	0.0183639	0.0003	0.018	.	106485	not_specified|Bardet-Biedl_syndrome_8|Bardet-Biedl_syndrome|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0102	0.00379393	0.0088	0.0021	0.0039	0	0.0032	0.0131	0.0033	0.0064	0.0088679	1371	154602	rs137853922	0.0123	0.0124	0.0125	0.0122	0.0160	0.0122	0.0121	0.0138	0.0138	0.0016	0.0041	0.0286	0	0.0025	0.0160	0.0140	0.0117	0.0060	0.0080	0.0080	0.0083	0.0076	0.0123	0.0076	0.0075	0.0116	0.0114	0.0023	0.0493	0.0046	0.0294	0.0002	0.0017	0.0272	0.0123	0.0090	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1299.83	42	chr14	88852966	.	C	T	1299.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.049;DP=733;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.34;SOR=0.71	GT:AD:DP:GQ:PL	0/1:38,33:71:99:784,0,933	17	0	2	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	28143.3	34	chr14	92071009	.	C	CG	28143.3	.	AC=20;AF=0.556;AN=36;BaseQRankSum=-0.448;DP=1450;ExcessHet=0.463;FS=1.302;InbreedingCoeff=0.0997;MLEAC=21;MLEAF=0.583;MQ=59.46;MQRankSum=0;QD=26.91;ReadPosRankSum=0.566;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,73:73:99:.:.:2947,218,0:.	4	6	8	1
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	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	3235.81	15	chr14	95115562	.	G	A	3235.81	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.88;DP=273;ExcessHet=4.0818;FS=6.175;InbreedingCoeff=-0.2265;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.524;SOR=1.886	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,188	8	1	10	0
chr15	33630030	33630030	A	G	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon22:c.A2770G:p.T924A,RYR3:NM_001243996:exon22:c.A2770G:p.T924A	.	.	.	.	.	.	.	.	.	.	.	463997	not_provided|Epileptic_encephalopathy|RYR3-related_disorder|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.464	0.0438866552541	0.0003	0.000599042	0.0008	0.0004	0.0019	0	0.0003	0.0012	0	0	0.0004528	70	154602	rs199638420	0.0004	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0004	0.0008	0.0061	0	0.0002	0.0033	0.0003	0.0011	1.211e-05	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	0.0003	0	0.0012	0.0058	0	9.411e-05	0	0.0005	0.0005	0	0.933	0.02378	T	.	.	.	0.267	0.38961	B	0.181	0.35894	B	0.000056	0.53742	D	0.124126	0.99998	0.54805	D	1.38	0.34346	L	-2.79	0.91019	D	-1.23	0.31170	N	0.412	0.48319	-0.0569	0.81059	T	0.537	0.82897	D	10	0.015210718	0.00319	T	0.043887	0.61211	D	0.464	0.76023	.	.	0.830309762593	0.82870	0.3149664594061715	0.31409	0.245001024247	0.27023	0.700730919838	0.67249	T	0.33437	0.70411	T	-0.216099	0.18527	T	-0.15201	0.59065	T	0.0484008206615471	0.05216	T	0.771723	0.40231	T	0.3227117	0.54868	0.26036417	0.51798	0.3227117	0.54868	0.26036417	0.51797	-4.953	0.36325	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.812258	0.37022	20.4	0.59173143072953882	0.06162	0.97235	0.73490	D	AEFGBI	0.752116	0.69272	D	0.0857893457324524	0.45800	2.830575	0.243252921868917	0.52266	3.402644	0.999990810050714	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	5.796000	0.68735	4.211000	0.42532	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	1.0:0.0:0.0:0.0	15.503	0.75449	952	0.10565	Ryanodine receptor Ryr;.;Ryanodine receptor Ryr;Ryanodine receptor Ryr;Ryanodine receptor Ryr	.	.	.	.	.	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	0.005550	0.010101	0.010870	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	1080.33	34	chr15	33630030	.	A	G	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=709;ExcessHet=0;FS=5.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.558;SOR=0.309	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1094,0,1006	18	0	1	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	38094.6	96	chr15	34791307	.	T	TCA	38094.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	1/0:6,26:65:99:1524,938,1023	12	0	7	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	38094.6	96	chr15	34791307	.	TCACA	T	38094.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	0/1:6,25:65:99:1524,519,1182	14	0	5	0
chr15	42945444	42945444	C	T	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon47:c.G5135A:p.R1712H	Johanson-Blizzard syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	739622	not_provided|UBR1-related_disorder|Microcephaly	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0056556906481	0.0008	0.00139776	0.0011	0.0010	0.0005	0.0027	0	0.0012	0	0.0012	0.0011384	176	154602	rs141828250	0.0014	0.0014	0.0014	0.0014	0.0093	0.0014	0.0014	0.0085	0.0082	0.0004	0.0005	3.826e-05	0.0093	0.0003	0.0005	0.0013	0.0013	0.0015	0.0010	0.0010	0.0009	0.0010	0.0033	0.0008	0.0008	0.0021	0.0017	0.0004	0	0.0005	0	0.0033	9.488e-05	0	0.0014	0.0005	0.0012	1.0	0.00964	T	0.158	0.31629	T	0.0	0.02946	B	0.0	0.01387	B	0.024751	0.26208	N	0.469935	1	0.81001	D	-0.315	0.03579	N	0.82	0.48142	T	-0.13	0.08971	N	0.037	0.01135	-1.0527	0.13655	T	0.027	0.11663	T	10	0.0035677254	0.00064	T	0.005656	0.14621	T	0.096	0.27654	.	.	0.18274738541	0.17906	0.22469064954747142	0.22384	0.198620745402	0.22241	0.272494256496	0.06468	T	0.090637	0.38627	T	-0.624373	0.00103	T	-0.682875	0.06809	T	0.00884334439180937	0.00109	T	0.779722	0.41422	T	0.024477229	0.01283	0.04015185	0.04273	0.024477229	0.01283	0.04015185	0.04272	-7.123	0.54926	T	0.11110454777500434	0.09463	0.067	0.02609	B	.	.	0.324676	0.06990	3.544	0.78883472307405655	0.12494	0.04647	0.10318	N	AEFGBI	0.038927	0.05581	N	-1.45781591521318	0.02156	0.09489369	-1.35026170259291	0.03802	0.1781263	0.0396624914356251	0.14404	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	-3.91	0.03892	-0.415000	0.07170	-3.279000	0.02911	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.933000	0.47100	0.0:0.3635:0.0:0.6365	15.453	0.75018	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	33	chr15	42945444	.	C	T	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=706;ExcessHet=0;FS=4.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.95;SOR=1.134	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1251,0,933	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	1.0	75303.4	194	chr15	59256276	.	C	T	75303.4	.	AC=38;AF=1;AN=38;BaseQRankSum=0.789;DP=2636;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=0.667;SOR=0.174	GT:AD:DP:GQ:PL	1/1:0,132:132:99:3757,395,0	0	19	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	205	10	0	6	5	17	0.375	.	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	2338.57	7	chr15	68207979	.	GACAC	G	2338.57	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	0/1:2,4:6:57:162,0,57	7	2	5	5
chr15	84858139	84858139	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3401T:p.A1134V	.	409	1094	19	0	0	19	0.00860897	.	.	.	505269	not_provided|ALPK3-related_disorder|not_specified|Cardiovascular_phenotype	MedGen:C3661900|.|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.0991630455031	0.0005	0.000399361	0.0012	0.0003	0.0018	0	0	0.0015	0.0014	0.0017	0.0001153	3	26028	rs139666355	0.0009	0.0009	0.0008	0.0009	0.0093	0.0008	0.0008	0.0073	0.0066	0.0005	0.0018	0.0039	0	0	0.0093	0.0007	0.0015	0.0014	0.0007	0.0007	0.0007	0.0006	0.0025	0.0006	0.0005	0.0014	0.0011	9.627e-05	0	0.0015	0.0029	0	0	0.0102	0.0007	0.0009	0.0025	0.009	0.57480	D	0.103	0.38305	T	0.022	0.18677	B	0.01	0.14941	B	0.405146	0.13071	N	0.720818	1	0.08975	N	1.545	0.39105	L	0.16	0.60610	T	-1.04	0.27259	N	0.053	0.02462	-1.0025	0.29197	T	0.131	0.44188	T	10	0.005576074	0.00123	T	0.099163	0.77063	D	0.015	0.02232	.	.	0.516217604878	0.51264	0.11891924480858854	0.11818	0.111437477428	0.12582	0.435870021582	0.30012	T	0.013169	0.11438	T	-0.458627	0.01003	T	-0.461641	0.26420	T	0.00349060985136757	0.00037	T	0.510949	0.16331	T	0.11256473	0.26591	0.078325756	0.17532	0.11256473	0.26591	0.078325756	0.17532	-4.546	0.31486	T	.	.	0.120	0.24633	B	.	.	0.605318	0.09738	6.506	0.97486891558126965	0.34219	0.12586	0.17359	N	AEFDGBI	0.100213	0.20156	N	-0.853872196482602	0.11955	0.579899	-0.919521836522363	0.11634	0.5938894	0.99702651272272	0.35208	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.69	0.158	0.14233	-0.391000	0.07383	-0.067000	0.12346	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1741:0.3815:0.3402:0.1042	2.739	0.04926	641	0.64016	.	.	.	.	.	.	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	0	0	0.007568	0.000000	0.014946	0.008772	0.000000	0.008621	0.003049	0.000000	0.05263	1564.83	34	chr15	84858139	.	C	T	1564.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.57;DP=756;ExcessHet=0.119;FS=0.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.667;SOR=0.711	GT:AD:DP:GQ:PL	0/1:19,26:45:99:667,0,455	17	0	2	0
chr15	98911384	98911384	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon7:c.G1532A:p.R511Q,IGF1R:NM_001291858:exon7:c.G1532A:p.R511Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	29833	IGF1R-related_disorder|not_specified|not_provided|Growth_delay_due_to_insulin-like_growth_factor_I_resistance	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.02219603975	0.0015	0.000798722	0.0014	0.0003	0.0003	0	0.0002	0.0024	0.0022	0.0001	0.0016041	248	154602	rs33958176	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0002	0.0004	0.0028	0	0.0003	0.0007	0.0034	0.0027	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0027	0.0026	0.0005	0	0.0014	0.0023	0	9.423e-05	0	0.0030	0.0014	0	0.597	0.06145	T	0.572	0.19073	T	0.188	0.36665	B	0.016	0.21085	B	0.000049	0.53742	D	0.000000	0.999848	0.49770	A	2.115	0.58683	M	-0.37	0.73949	T	-0.57	0.28906	N	0.349	0.42050	-0.6108	0.64370	T	0.226	0.59096	T	9	0.008615732	0.00195	T	0.022196	0.45064	T	0.254	0.56428	.	.	0.846087805279	0.84461	0.7290749888736927	0.72852	0.733860430023	0.62867	0.52810561657	0.42767	T	0.440796	0.78557	T	-0.203307	0.20328	T	-0.053136	0.66807	D	0.0205880874629327	0.00759	T	0.918008	0.78384	D	0.20096453	0.42090	0.14691411	0.34789	0.23413454	0.46229	0.1346258	0.32254	-7.346	0.56522	T	0.2843677419150365	0.38015	0.165	0.36436	B	.;.;.;.;.	.;.;.;.;.	4.300004	0.65647	24.9	0.99733804624893996	0.82975	0.96552	0.69711	D	AEFGBI	0.385957	0.46650	N	0.202412991127524	0.51316	3.313809	0.344738443105416	0.58190	3.988267	0.999999972204837	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.003000	0.63708	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.071:0.0:0.9289:0.0	14.326	0.66079	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4964.83	34	chr15	98911384	.	G	A	4964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=993;ExcessHet=0.119;FS=1.209;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.41;SOR=0.7	GT:AD:DP:GQ:PL	0/1:93,113:206:99:2732,0,2145	17	0	2	0
chr16	2283237	2283237	C	A	exonic	ABCA3	.	synonymous SNV	ABCA3:NM_001089:exon26:c.G3984T:p.L1328L	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	334187	ABCA3-related_disorder|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	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0004	0	0.0003	0.0028	0	0.0002	0.0023	0.0002	0.0002911	45	154602	rs149050142	0.0003	0.0003	0.0003	0.0003	0.0084	0.0003	0.0003	0.0077	0.0074	0	4.472e-05	0.0016	0.0084	0	0.0002	6.655e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0030	4.81e-05	0	0	0.0014	0.0050	0	0	7.352e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	881.33	33	chr16	2283237	.	C	A	881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=711;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.717;SOR=0.498	GT:AD:DP:GQ:PL	0/1:31,36:67:99:895,0,685	18	0	1	0
chr16	8764843	8764843	-	CACA	intronic	ABAT	.	.	.	GABA-transaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	344198	Gamma-aminobutyric_acid_transaminase_deficiency	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	0.0079	0.0116	0.0557	0.0468	0.0213	0.0389	0.0855	0.0004995	13	26028	rs148949594	0.0275	0.0289	0.0252	0.0297	0.0897	0.0272	0.0271	0.0880	0.0873	0.0065	0.0148	0.0144	0.0565	0.0499	0.0234	0.0217	0.0303	0.0897	0.0263	0.0263	0.0224	0.0305	0.1041	0.0256	0.0254	0.0965	0.0935	0.0078	0.0177	0.0244	0.0183	0.0661	0.0613	0.0068	0.0249	0.0258	0.1041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6336.45	43	chr16	8764843	.	G	GCACA	6336.45	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.625;DP=904;ExcessHet=7.7183;FS=1.886;InbreedingCoeff=-0.3579;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.511;SOR=0.859	GT:AD:DP:GQ:PL	0/1:23,8:39:95:261,0,956	17	1	1	0
chr16	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	500	719	142	6	155	309	0.0967337	.	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2041.16	115	chr16	15725134	.	TA	T	2041.16	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.385;DP=2694;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6373;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:87,17:112:88:88,0,1930	12	0	7	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	3640.21	21	chr16	23445969	.	TA	T	3640.21	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.072;DP=876;ExcessHet=38.2876;FS=2.656;InbreedingCoeff=-0.8999;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.114;SOR=0.889	GT:AD:DP:GQ:PL	0/1:20,12:32:99:143,0,314	1	0	18	0
chr16	56831918	56831918	C	T	exonic	NUP93	.	nonsynonymous SNV	NUP93:NM_001242795:exon9:c.C793T:p.R265W,NUP93:NM_001242796:exon9:c.C793T:p.R265W,NUP93:NM_014669:exon11:c.C1162T:p.R388W	Nephrotic syndrome, type 12, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	YES	226849	Nephrotic_syndrome,_type_12|Nephrotic_syndrome|not_provided|NUP93-related_disorder	MONDO:MONDO:0014817,MedGen:C4225166,OMIM:616892,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|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	0.0330278799411	0.0008	0.000998403	0.0008	9.61e-05	0.0003	0	0.0012	0.0010	0.0044	0.0013	0.0007309	113	154602	rs145146218	0.0006	0.0006	0.0005	0.0006	0.0009	0.0005	0.0005	0.0008	0.0007	8.961e-05	0.0004	0.0001	0	0.0004	0.0007	0.0006	0.0005	0.0009	0.0007	0.0007	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0009	0	0	0.0005	0	0	0.0010	0	0.0012	0	0.0015	0.001	0.91255	D	0.002	0.92824	D	0.999	0.77913	D	0.94	0.67560	D	0.000009	0.62929	D	0.112431	1	0.81001	D	2.67	0.78151	M	0.88	0.46028	T	-6.01	0.91395	D	0.969	0.99260	-0.7286	0.59034	T	0.219	0.58137	T	10	0.09350121	0.16552	T	0.033028	0.54691	D	0.399	0.71321	.	.	0.757842185581	0.75564	0.735899073520606	0.73534	1.09122363088	0.77441	0.886928796768	0.94873	D	0.350251	0.71799	T	-0.0787073	0.39923	T	0.108618	0.77481	D	0.172124281525612	0.18723	T	0.991768	0.97410	D	0.5951432	0.72429	0.5236527	0.72479	0.53490263	0.69110	0.5921308	0.76330	-13.559	0.93721	D	0.916384167101772	0.96264	0.908	0.83331	P	.;.;.;.;.	.;.;.;.;.	5.079520	0.84770	28.4	0.99924875324092854	0.98980	0.92058	0.54851	D	AEFDBI	0.704568	0.66024	D	0.518665237521509	0.68193	5.183749	0.4707588207754	0.66061	4.903238	0.958328087768372	0.28356	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.69	0.41483	2.095000	0.41354	2.308000	0.32059	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.4975:0.5025:0.0:0.0	11.622	0.50380	519	0.74455	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	37	chr16	56831918	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=744;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.613;SOR=0.5	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1270,0,1246	18	0	1	0
chr16	67658960	67658960	T	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon7:c.A613G:p.T205A,ACD:NM_022914:exon7:c.A604G:p.T202A	.	430	1088	3	1	0	5	0.00229253	.	.	.	530106	Dyskeratosis_congenita,_autosomal_dominant_6|ACD-related_disorder|not_provided|not_specified	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.11067431758	0.0010	0.000998403	0.0015	0.0002	0.0006	0	0	0.0015	0.0011	0.0042	0.0013777	213	154602	rs139438549	0.0012	0.0012	0.0011	0.0014	0.0044	0.0012	0.0012	0.0040	0.0039	0.0001	0.0007	0.0033	0	0	0.0024	0.0011	0.0012	0.0044	0.0011	0.0011	0.0010	0.0011	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0.0373	0.0010	0.0023	0	0	0	0.0011	0.0009	0.0044	.	.	.	0.014	0.62352	D	0.993	0.68779	D	0.978	0.78936	D	0.000104	0.50451	D	0.082287	0.999977	0.18612	N	2.25	0.63811	M	.	.	.	.	.	.	0.499	0.53620	-0.7753	0.56565	T	0.259	0.62999	T	10	0.004820019	0.00102	T	0.110674	0.78815	D	0.362	0.68230	.	.	0.846853498578	0.84538	0.6155730349153837	0.61489	0.450995672873	0.44860	0.410301268101	0.26498	T	0.724472	0.92239	D	-0.251301	0.13939	T	-0.133897	0.60642	T	0.0913144573569298	0.11373	T	0.728227	0.34274	T	0.67759454	0.76840	0.58441406	0.75902	0.8596595	0.88061	0.54078	0.73460	.	.	.	0.8377694817202448	0.90702	0.456	0.65780	A	.;.;.;.;.;.	.;.;.;.;.;.	3.822991	0.55215	23.6	0.99520996860738109	0.69222	0.67895	0.33599	D	AEFDGBCI	0.373121	0.45851	N	0.225927322891359	0.52458	3.419881	0.141210490154682	0.46678	2.909948	0.999999985881756	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	2.605000	0.45947	6.123000	0.53812	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.624000	0.32000	0.0:0.0:0.0:1.0	11.026	0.46963	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.007576	0.05263	4667.83	33	chr16	67658960	.	T	C	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.83;DP=1057;ExcessHet=0.119;FS=1.111;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.45;SOR=0.766	GT:AD:DP:GQ:PL	0/1:123,103:226:99:2533,0,3141	17	0	2	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	2088.34	36	chr16	70860121	.	C	T	2088.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.073;DP=1570;ExcessHet=2.9153;FS=8.264;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=47.99;MQRankSum=-5.379;QD=2.36;ReadPosRankSum=3.22;SOR=1.35	GT:AD:DP:GQ:PL	0/1:113,37:150:99:547,0,2981	12	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	44.68	14	chr16	81096282	.	C	A	44.68	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.728;DP=427;ExcessHet=0.3672;FS=3.215;InbreedingCoeff=-0.0958;MLEAC=3;MLEAF=0.079;MQ=47.16;MQRankSum=-2.129;QD=0.76;ReadPosRankSum=-0.852;SOR=0.26	GT:AD:DP:GQ:PL	0/1:11,2:13:10:10,0,340	16	0	3	0
chr16	88437796	88437796	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G10326C:p.R3442S	Brittle cornea syndrome 1, Autosomal recessive	0	1466	53	3	0	59	0.0197258	.	.	YES	192279	not_provided|not_specified|Brittle_cornea_syndrome_1|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.008	.	0.0092	0.00399361	0.0068	0.0132	0	0	0	0.0129	0.0152	0.0033	0.0023609	365	154602	rs56236932	0.0117	0.0112	0.0120	0.0115	0.0311	0.0116	0.0115	0.0274	0.0259	0.0024	0.0061	0.0079	0.0009	0.0030	0.0311	0.0137	0.0098	0.0024	0.0092	0.0092	0.0096	0.0088	0.0136	0.0088	0.0087	0.0129	0.0126	0.0034	0.0515	0.0123	0.0066	0.0004	0.0028	0.0170	0.0136	0.0099	0.0039	0.99	0.01967	T	0.181	0.29346	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.26	0.06681	T	-1.26	0.31778	N	0.141	0.17416	-0.9525	0.40538	T	0.006	0.01944	T	9	0.0023328662	0.00034	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.3911152535606869	0.39026	.	.	0.424662411213	0.28477	T	0.007116	0.06537	T	-0.660806	0.00062	T	-0.709655	0.05313	T	0.00269498223344518	0.00028	T	0.617538	0.23656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.46574	B	.;.	.;.	0.698403	0.10673	7.368	0.67102367011221209	0.08255	0.09907	0.15554	N	AEFDGBCI	0.177062	0.30429	N	-1.12483985575745	0.06204	0.2849534	-1.17493056823169	0.06331	0.3044115	0.999983605403438	0.51787	0.495158	0.18159	0	0.615948	0.52940	0	0.535252	0.11790	0	0.638833	0.57524	0	.	.	5.14	-1.31	0.08749	-1.073000	0.03541	-0.015000	0.13005	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2306:0.1127:0.4274:0.2292	1.785	0.02857	.	.	Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015581	0.007042	0.016949	0.038095	0.100000	0.000000	0.013514	0.014706	0.05263	6370.83	62	chr16	88437796	.	G	C	6370.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.783;DP=1517;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.744;SOR=0.711	GT:AD:DP:GQ:PL	0/1:157,146:305:99:3351,0,3629	17	0	2	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V,FANCA:NM_001286167:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.003788	0.07895	3792.79	41	chr16	89769951	.	G	A	3792.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.596;DP=870;ExcessHet=0.3672;FS=0.463;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.597;SOR=0.756	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1551,0,935	16	0	3	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1199.31	27	chr16	89816740	.	A	AGGCCTTGCGTCGT	1199.31	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.637;DP=275;ExcessHet=0.6689;FS=2.854;InbreedingCoeff=0.0466;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.546;SOR=0.33	GT:AD:DP:GQ:PL	0/1:7,3:10:99:105,0,285	12	1	6	0
chr17	5003999	5003999	A	C	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon11:c.A866C:p.Q289P	Spastic ataxia 2, autosomal recessive, Autosomal recessive	419	1095	8	0	0	8	0.00363967	0.8663	0.626	.	413453	not_provided|Spastic_ataxia_2|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.742	0.252099349353	0.0017	0.000599042	0.0012	9.612e-05	0.0003	0	0.0014	0.0019	0.0011	0.0008	0.0010931	169	154602	rs146872023	0.0014	0.0014	0.0014	0.0015	0.0038	0.0014	0.0014	0.0026	0.0022	8.963e-05	0.0003	0.0004	0	0.0006	0.0038	0.0017	0.0012	0.0008	0.0010	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	0.0005	0	0	0.0006	0	0.0020	0.0009	0.0004	0.008	0.58626	D	0.027	0.55341	D	0.968	0.56581	D	0.954	0.69447	D	.	.	.	.	0.999976	0.53665	D	1.935	0.51832	L	-2.4	0.88455	D	-1.96	0.45404	N	0.309	0.34874	0.594	0.91816	D	0.736	0.90966	D	9	0.05489394	0.05915	T	0.252099	0.89158	D	0.742	0.91069	.	.	0.906485554669	0.90554	0.6530642631107064	0.65242	1.02858067895	0.75351	0.691312730312	0.65895	T	0.352681	0.72009	T	-0.120594	0.33026	T	0.0493828	0.73543	D	0.0683233118103087	0.08414	T	0.941606	0.78180	D	0.47949785	0.65870	0.5041443	0.71338	0.47949785	0.65870	0.5041443	0.71338	-3.778	0.20476	T	.	.	0.069	0.02960	B	.	.	4.560608	0.71867	25.7	0.99251680997989944	0.56891	0.99788	0.99470	D	AEFBI	0.958106	0.97769	D	0.673353446299839	0.77888	6.762032	0.692715948714318	0.81826	7.618182	0.999837813979633	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.026000	0.56942	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	14.148	0.64899	576	0.70006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1267.33	42	chr17	5003999	.	A	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=770;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.889;SOR=0.612	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1281,0,1418	18	0	1	0
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	250.9	.	chr17	17237171	.	C	G	250.9	.	AC=8;AF=0.5;AN=16;DP=17;ExcessHet=0;FS=0;InbreedingCoeff=0.4715;MLEAC=13;MLEAF=0.813;MQ=60;QD=27.88;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	4	0	11
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9986.06	19	chr17	18130817	.	A	AGT	9986.06	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:11,16:44:99:407,112,458	10	0	9	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	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	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	81486.4	356	chr17	21300880	.	C	T	81486.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.85;DP=4853;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.156;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,123:281:99:0|1:21300875_G_T:4557,0,6184:21300875	0	0	19	0
chr17	41819332	41819332	G	A	exonic	FKBP10	.	nonsynonymous SNV	FKBP10:NM_021939:exon5:c.G850A:p.G284R	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	0	1490	30	2	0	34	0.0112807	.	.	.	610082	not_provided|not_specified|Osteogenesis_imperfecta_type_11|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.0667847351271	0.0002	0.000798722	0.0005	0	0.0004	0	0	0.0002	0.0011	0.0025	0.0004463	69	154602	rs372214186	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0.0005	0	5.038e-05	0	0.0026	0.0001	0.0005	0.0025	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0007	0.0003	0	0	0	0.0003	0.0019	0.0023	0.706	0.04094	T	0.815	0.03886	T	0.134	0.27266	B	0.041	0.23986	B	0.988842	0.08044	N	0.993762	1	0.24432	N	-0.835	0.01514	N	-1.96	0.85091	D	0.21	0.04776	N	0.202	0.22357	-0.8824	0.49569	T	0.270	0.64162	T	10	0.0053589344	0.00118	T	0.066785	0.69976	D	0.183	0.45592	0.516	0.61611	0.550842731861	0.54741	0.5796122781772097	0.57890	0.321619576993	0.34361	0.319252252579	0.13307	T	0.018246	0.14740	T	-0.336701	0.05620	T	-0.261661	0.48658	T	0.0166111615422761	0.00421	T	0.50065	0.15660	T	0.048808962	0.08566	0.09702783	0.23077	0.048808962	0.08565	0.09702783	0.23077	-0.977	0.00974	T	0.10505358080590027	0.08286	0.062	0.01215	B	.	.	1.482181	0.19077	14.08	0.95068555199797211	0.26106	0.27637	0.23333	N	AEFDBHCI	0.263984	0.38141	N	-0.991755550792229	0.08779	0.4129378	-0.93156157991318	0.11352	0.5777521	0.999987119437034	0.51787	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.714379	0.83352	0	.	.	5.55	1.15	0.19876	1.939000	0.39841	0.446000	0.18474	0.676000	0.76740	0.198000	0.24285	0.000000	0.08366	0.173000	0.21076	0.3045:0.0:0.6955:0.0	9.345	0.37265	549	0.72275	FKBP-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.011364	0.02632	768.33	33	chr17	41819332	.	G	A	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=678;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.481;SOR=0.544	GT:AD:DP:GQ:PL	0/1:29,26:55:99:782,0,737	18	0	1	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4729.39	9	chr17	61483613	.	A	AGTGTGTGT	4729.39	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.291;DP=510;ExcessHet=1.0583;FS=2.006;InbreedingCoeff=0.0654;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=0.729;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,6:13:99:.:.:224,0,277:.	13	0	6	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.4737	45904.2	42	chr17	80184196	.	G	A	45904.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.991;DP=2784;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-0.47;SOR=0.665	GT:AD:DP:GQ:PL	0/1:81,98:179:99:2428,0,2048	5	4	10	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|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8421	62918.4	187	chr17	80184264	.	G	A	62918.4	.	AC=32;AF=0.842;AN=38;BaseQRankSum=-0.35;DP=2370;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=32;MLEAF=0.842;MQ=60;MQRankSum=0;QD=27.99;ReadPosRankSum=0.48;SOR=0.776	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1723,0,1643	1	14	4	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	26991.2	139	chr17	80202434	.	T	A	26991.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.364;DP=1567;ExcessHet=0.463;FS=1.308;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.691;SOR=0.58	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1537,0,1703	6	5	8	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|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|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4474	45386.8	286	chr17	80205094	.	C	T	45386.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=0.493;DP=2511;ExcessHet=0.1862;FS=0;InbreedingCoeff=0.2549;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.31;SOR=0.696	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1589,0,1867	7	5	7	0
chr18	57580104	57580104	C	A	exonic	FECH	.	nonsynonymous SNV	FECH:NM_000140:exon2:c.G163T:p.G55C,FECH:NM_001012515:exon2:c.G163T:p.G55C,FECH:NM_001371094:exon2:c.G163T:p.G55C,FECH:NM_001374778:exon2:c.G163T:p.G55C	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	0	1428	91	2	1	96	0.0321925	.	.	.	15587	Protoporphyria,_erythropoietic,_1|not_provided|not_specified	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.333	.	0.0183	0.0269569	0.0222	0.0164	0.0242	0.0162	0.0178	0.0178	0.0154	0.0475	0.0218044	3371	154602	rs3848519	0.0218	0.0218	0.0212	0.0224	0.0461	0.0216	0.0215	0.0449	0.0444	0.0151	0.0271	0.0043	0.0115	0.0178	0.0191	0.0210	0.0199	0.0461	0.0203	0.0203	0.0199	0.0206	0.0512	0.0197	0.0194	0.0460	0.0439	0.0154	0.1176	0.0340	0.0035	0.0155	0.0176	0.0136	0.0183	0.0204	0.0512	0.174	0.23813	T	0.041	0.50514	D	0.214	0.57599	B	0.174	0.48825	B	0.274696	0.15059	N	0.712091	1	0.08975	N	0	0.06538	N	-4.48	0.97606	D	0.56	0.02764	N	0.152	0.15609	-0.0087	0.82077	T	0.570	0.84426	D	10	0.002217114	0.00032	T	.	.	.	0.333	0.65522	.	.	.	.	.	.	0.724013587441	0.62365	0.322973012924	0.13870	T	0.173614	0.52255	T	-0.321343	0.06788	T	-0.200782	0.54572	T	0.00555085793847404	0.00060	T	0.662034	0.27600	T	0.08802881	0.20522	0.043531016	0.05435	0.06253234	0.13070	0.052749548	0.08749	-6.635	0.51320	T	.	.	0.086	0.11461	B	.;.;.;.	.;.;.;.	1.269418	0.16678	12.70	0.48796855548337736	0.04102	0.11119	0.16420	N	AEFDGBI	0.084074	0.17037	N	-1.2252789467647	0.04636	0.2096441	-1.22242290153849	0.05551	0.2648192	0.999700875770596	0.41986	0.706298	0.61202	0	0.26897	0.04874	2	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	1.58	0.22557	0.874000	0.27715	1.866000	0.29355	-1.028000	0.01704	0.684000	0.28476	0.062000	0.22056	0.002000	0.04165	0.0:0.2851:0.1535:0.5614	4.851	0.12900	969	0.06854	.;.;.;.	NARS	Cells_Cultured_fibroblasts	.	.	rs3848519	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	5796.33	36	chr18	57580104	.	C	A	5796.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.677;DP=814;ExcessHet=0;FS=1.224;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=22.73;ReadPosRankSum=0.228;SOR=0.762	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1028,0,1261	16	2	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	5992.17	36	chr18	57580222	.	G	A	5992.17	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.476;DP=678;ExcessHet=0.0419;FS=1.188;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=-0.655;SOR=0.808	GT:AD:DP:GQ:PL	0/1:17,22:39:99:640,0,421	13	2	4	0
chr19	36103440	36103440	C	T	exonic	WDR62	.	synonymous SNV	WDR62:NM_001083961:exon30:c.C3612T:p.G1204G,WDR62:NM_173636:exon30:c.C3597T:p.G1199G	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1501	20	1	0	22	0.00727513	.	.	.	208576	Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations|not_specified|not_provided	MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0010	0.0002	0.0011	0	0.0009	0.0012	0.0022	0.0012	0.0008861	137	154602	rs139946168	0.0009	0.0009	0.0008	0.0009	0.0075	0.0008	0.0008	0.0057	0.0051	8.961e-05	0.0010	0.0021	0	0.0006	0.0075	0.0008	0.0009	0.0010	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0005	0.0007	0.0006	0.0002	0	0.0006	0.0023	0	0.0007	0.0137	0.0009	0.0028	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.018293	0.003788	0.02632	2867.33	40	chr19	36103440	.	C	T	2867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.452;DP=1132;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.307;SOR=0.503	GT:AD:DP:GQ:PL	0/1:59,109:168:99:2881,0,1531	18	0	1	0
chr19	36104523	36104523	C	A	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon31:c.C4159A:p.L1387I,WDR62:NM_173636:exon31:c.C4144A:p.L1382I	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	169536	not_specified|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0304345844044	0.0004	0.000798722	0.0010	0	0.0017	0	0	0.0008	0.0022	0.0028	0.0008991	139	154602	rs147652186	0.0005	0.0005	0.0005	0.0006	0.0069	0.0005	0.0005	0.0052	0.0046	0.0001	0.0009	0.0008	0	0	0.0069	0.0004	0.0010	0.0021	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0003	0.0009	0.0002	0	0.0034	0.0007	0.0024	0.0019	0.554	0.06502	T	0.4	0.15010	T	0.435	0.35719	B	0.107	0.31211	B	0.008996	0.01226	N	2.611240	1	0.08975	N	1.59	0.40313	L	0.93	0.47477	T	-0.05	0.07736	N	0.136	0.16447	-1.0256	0.21886	T	0.083	0.32642	T	10	0.0052885413	0.00116	T	0.030435	0.52748	D	0.043	0.11576	.	.	0.300784259202	0.29686	0.03788552045407618	0.03734	0.531777514646	0.50659	0.334183216095	0.15565	T	8.6E-4	0.00434	T	-0.617959	0.00113	T	-0.665669	0.07889	T	0.0233234995645755	0.01062	T	0.472453	0.14032	T	0.043267965	0.06712	0.028746992	0.01140	0.039639484	0.05511	0.02602251	0.00671	-6.412	0.49618	T	.	.	0.091	0.13268	B	.;.	.;.	0.534570	0.09034	5.815	0.64237696321947724	0.07438	0.13797	0.18057	N	ALL	0.041564	0.06335	N	-0.835515986372514	0.12409	0.6047094	-0.876454074126796	0.12652	0.6521091	0.999999821045024	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.34	2.22	0.27116	0.526000	0.22680	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7691:0.0:0.2309	6.144	0.19493	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.020468	0.000000	0.000000	0.006098	0.003788	0.05263	2877.83	34	chr19	36104523	.	C	A	2877.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.14;DP=804;ExcessHet=0.119;FS=13.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.381;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,58:111:99:0|1:36104523_C_A:1659,0,1447:36104523	17	0	2	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	9538.71	71	chr19	57231146	.	G	GC	9538.71	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.183;DP=1031;ExcessHet=0.233;FS=0.547;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.241;SOR=0.744	GT:AD:DP:GQ:PL	0/1:27,17:44:99:420,0,750	8	4	7	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:PS125850,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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1415.67	4	chr20	44429378	.	T	C	1415.67	.	AC=15;AF=0.417;AN=36;BaseQRankSum=1.38;DP=101;ExcessHet=0.0261;FS=13.744;InbreedingCoeff=0.3158;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.71;ReadPosRankSum=0.18;SOR=3.109	GT:AD:DP:GQ:PL	1/1:0,5:5:15:214,15,0	8	5	5	1
chr21	45468713	45468713	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon2:c.G1118A:p.R373Q,COL18A1:NM_130444:exon2:c.G1823A:p.R608Q,COL18A1:NM_001379500:exon3:c.G578A:p.R193Q	Knobloch syndrome, type 1, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	886935	COL18A1-related_disorder|Inborn_genetic_diseases|not_specified|not_provided|Knobloch_syndrome	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.0192785647505	8.2e-05	0.00139776	0.0007	0.0002	9.043e-05	0.0089	0	3.156e-05	0	0.0002	0.0006145	95	154602	rs2236453	0.0003	0.0003	0.0004	0.0003	0.0117	0.0003	0.0003	0.0109	0.0105	0	4.473e-05	0	0.0117	0	0	1.979e-05	0.0002	8.116e-05	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0052	4.81e-05	0	6.531e-05	0	0.0077	0	0	0	0	0.0002	0.511	0.07473	T	0.34	0.18018	T	0.026	0.22658	B	0.002	0.13708	B	0.488173	0.12087	N	0.726704	1	0.08975	N	0.69	0.16971	N	0.89	0.45636	T	0.24	0.04533	N	0.064	0.03956	-0.9841	0.34045	T	0.046	0.19800	T	10	0.0039824843	0.00077	T	0.019279	0.41600	T	0.046	0.12618	.	.	0.281780670237	0.27795	0.19856987531677855	0.19773	0.076962351002	0.08643	0.309449732304	0.11825	T	0.074743	0.35011	T	-0.684105	0.00045	T	-0.750037	0.03484	T	0.00585184556853965	0.00064	T	0.483152	0.15096	T	0.009754506	0.00004	0.021428332	0.00194	0.014926199	0.00114	0.025603741	0.00611	-3.74	0.19910	T	0.13073248967980594	0.13780	0.066	0.02927	B	.;.;.	.;.;.	0.521618	0.08906	5.684	0.86044113436763048	0.16277	0.01064	0.03948	N	AEFBI	0.150099	0.27432	N	-1.46844227492991	0.02076	0.09129492	-1.54022599165921	0.02044	0.09343128	0.999993201399857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	-6.1	0.01956	0.914000	0.28246	-0.788000	0.07426	-0.671000	0.04298	0.031000	0.20493	0.000000	0.08366	0.002000	0.04165	0.7529:0.1178:0.1293:0.0	10.78	0.45572	645	0.63593	.;.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1284.33	33	chr21	45468713	.	G	A	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.325;DP=731;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.447;SOR=0.908	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1298,0,1083	18	0	1	0
chrX	71132767	71132767	-	CTCTT	intronic	MED12	.	.	.	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	101149	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1219529434	0.0956	0.0966	0.0997	0.0853	0.2167	0.0949	0.0946	0.2117	0.2096	0.0541	0.1017	0.0779	0.2167	0.1543	0.0965	0.0813	0.1061	0.1351	0.1337	0.1587	0.1476	0.0804	0.2432	0.1317	0.1309	0.2274	0.2211	0.0805	0.2113	0.1239	0.1098	0.2432	0.1334	0.1111	0.1574	0.1283	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	27814.0	89	chrX	71132767	.	C	CCTCTT	27814.0	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.476;DP=1134;ExcessHet=0;FS=0;InbreedingCoeff=0.7139;MLEAC=7;MLEAF=0.194;MQ=59.97;MQRankSum=0;QD=29.99;ReadPosRankSum=2.27;SOR=0.601	GT:AD:DP:GQ:PL	0/1:0,21:53:99:1924,1140,1079	14	2	2	1
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	385.22	51	chrX	133704277	.	GA	G	385.22	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.026;DP=1160;ExcessHet=6.9875;FS=0.757;InbreedingCoeff=-0.3385;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.333;SOR=0.594	GT:AD:DP:GQ:PL	0/1:55,10:68:62:62,0,1278	9	0	10	0