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	NSWES957	WT	HH	HZ	NC
chr1	1520197	1520197	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G571A:p.A191T,ATAD3A:NM_001170536:exon6:c.G334A:p.A112T,ATAD3A:NM_018188:exon6:c.G715A:p.A239T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	414	1078	30	0	0	30	0.0137237	.	.	YES	794417	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	.	.	0.0044	0.0256	0.0027	0.0005	0.0015	0.0032	0.0013	0.0021	0.0002587	40	154602	rs2986576	0.0010	0.0025	0.0009	0.0010	0.0038	0.0009	0.0009	0.0025	0.0021	0.0006	0.0009	0.0012	0.0001	0.0011	0.0038	0.0010	0.0013	0.0005	0.0021	0.0035	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0019	0	0.0010	0.0020	0.0004	0.0010	0	0.0028	0.0043	0.0004	0.059	0.43393	T	0.045	0.50514	D	0.254	0.31272	B	0.247	0.38902	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.25	0.19860	T	-2.99	0.62151	D	0.787	0.78737	0.372	0.88676	D	0.557	0.83854	D	10	0.013066947	0.00278	T	.	.	.	0.274	0.59007	.	.	0.621583459065	0.61851	0.6255127610254827	0.62484	0.383871402863	0.39705	0.69321680069	0.66168	T	0.225816	0.59066	T	0.00522786	0.52374	T	-0.230267	0.51746	T	0.10931204842641	0.13352	T	0.822018	0.48145	T	0.270079	0.50080	0.32427993	0.58353	0.25576767	0.48613	0.3278964	0.58683	-7.068	0.64151	T	0.4525980482247435	0.53616	0.148	0.45665	B	.;.;.	.;.;.	3.855226	0.55878	23.7	0.99634795245590502	0.76264	0.99612	0.97981	D	AEFDBI	0.917445	0.88506	D	0.45375012847299	0.64417	4.695684	0.389016773231514	0.60886	4.281534	0.999999949567692	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	9.253000	0.94694	9.568000	0.81006	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:0.0:1.0:0.0	15.785	0.78065	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	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	0.015812	0.026882	0.016349	0.008264	0.000000	0.025862	0.009868	0.011628	0.05263	461.83	38	chr1	1520197	.	G	A	461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1247;ExcessHet=0.119;FS=18.492;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.68;MQRankSum=-9.443;QD=0.97;ReadPosRankSum=-1.814;SOR=2.394	GT:AD:DP:GQ:PL	0/1:187,34:221:99:375,0,5185	17	0	2	0
chr1	11964743	11964743	G	A	exonic	PLOD1	.	synonymous SNV	PLOD1:NM_000302:exon13:c.G1428A:p.K476K,PLOD1:NM_001316320:exon14:c.G1569A:p.K523K	Ehlers-Danlos syndrome, type VI, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	276836	not_specified|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|PLOD1-related_disorder|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|Ehlers-Danlos_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|.|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0003	0	0	0	0.0003	0.0005	0	0	0.0002911	45	154602	rs139869965	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	5.974e-05	8.944e-05	0	0	0.0002	0.0005	0.0004	0.0008	2.319e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	0.0004	0	0.0006	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	.	.	.	.	.	.	.	.	0.02632	724.33	42	chr1	11964743	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.396;DP=708;ExcessHet=0;FS=2.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.06;SOR=0.997	GT:AD:DP:GQ:PL	0/1:36,32:68:99:738,0,825	18	0	1	0
chr1	28993501	28993501	G	A	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001166005:exon3:c.G640A:p.V214I,EPB41:NM_001166006:exon3:c.G640A:p.V214I,EPB41:NM_001166007:exon3:c.G13A:p.V5I,EPB41:NM_001376013:exon3:c.G640A:p.V214I,EPB41:NM_001376014:exon3:c.G640A:p.V214I,EPB41:NM_001376015:exon3:c.G640A:p.V214I,EPB41:NM_001376016:exon3:c.G640A:p.V214I,EPB41:NM_001376017:exon3:c.G640A:p.V214I,EPB41:NM_001376018:exon3:c.G640A:p.V214I,EPB41:NM_001376019:exon3:c.G640A:p.V214I,EPB41:NM_001376020:exon3:c.G640A:p.V214I,EPB41:NM_001376021:exon3:c.G640A:p.V214I,EPB41:NM_001376022:exon3:c.G13A:p.V5I,EPB41:NM_001376023:exon3:c.G13A:p.V5I,EPB41:NM_001376024:exon3:c.G13A:p.V5I,EPB41:NM_001376025:exon3:c.G13A:p.V5I,EPB41:NM_001376026:exon3:c.G13A:p.V5I,EPB41:NM_001376027:exon3:c.G13A:p.V5I,EPB41:NM_001376028:exon3:c.G13A:p.V5I,EPB41:NM_203343:exon3:c.G640A:p.V214I,EPB41:NM_004437:exon4:c.G13A:p.V5I,EPB41:NM_203342:exon4:c.G13A:p.V5I	Elliptocytosis-1	1	1410	100	11	0	122	0.0414684	.	.	.	799215	Elliptocytosis_1|not_provided	MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.173	.	0.0378	0.0155751	0.0341	0.0076	0.0296	0.0001	0.0198	0.0498	0.0441	0.0133	0.0342492	5295	154602	rs111642750	0.0437	0.0438	0.0443	0.0432	0.0634	0.0435	0.0433	0.0580	0.0559	0.0070	0.0330	0.0611	5.041e-05	0.0240	0.0634	0.0498	0.0411	0.0136	0.0326	0.0327	0.0347	0.0305	0.0477	0.0319	0.0315	0.0464	0.0458	0.0084	0.0910	0.0440	0.0640	0	0.0217	0.0748	0.0477	0.0445	0.0096	0.139	0.43708	T	0.061	0.54159	T	0.009	0.49324	B	0.015	0.61806	B	0.008382	0.30866	N	0.335198	0.999994	0.58761	D	1.78	0.46185	L	-1.82	0.84047	D	-0.9	0.24244	N	0.17	0.25499	-0.3128	0.74626	T	0.245	0.61366	T	9	0.003148526	0.00053	T	.	.	.	0.173	0.43840	.	.	.	.	0.28088630267637577	0.28001	0.166873589523	0.18820	0.43623867631	0.30063	T	0.303499	0.67585	T	-0.34415	0.05105	T	-0.230618	0.51713	T	0.0158378503849092	0.00371	T	0.849315	0.65919	T	0.1558718	0.35205	0.101065055	0.24184	0.15956618	0.35836	0.101065055	0.24183	-6.826	0.53122	T	.	.	0.096	0.22789	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.104588	0.41856	21.4	0.99354740134365238	0.60738	0.90177	0.51150	D	AEFDBHCI	0.457931	0.50917	N	0.00512974626220698	0.42089	2.52939	0.1284128546935	0.46008	2.854032	0.999054950204163	0.38317	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	4.31	0.50718	4.421000	0.59598	3.077000	0.36224	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0807:0.0:0.9193:0.0	12.426	0.54884	453	0.79178	.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;.;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain	.	.	.	.	rs111642750	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	0.046828	0.080808	0.040761	0.043860	0.100000	0.060345	0.054878	0.034091	0.1053	3862.43	34	chr1	28993501	.	G	A	3862.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.704;DP=885;ExcessHet=0.7564;FS=0.384;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.441;SOR=0.66	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1427,0,952	15	0	4	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	1/1:0,147:147:99:6524,442,0	10	2	7	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	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	1/1:0,165:165:99:5292,495,0	0	19	0	0
chr1	92297534	92297534	-	A	intronic	GLMN	.	.	.	Glomuvenous malformations, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	283340	not_provided|Glomuvenous_malformation|not_specified	MedGen:C3661900|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1235	0.1413	0.1290	0.1474	0.0934	0.1078	0.1247	0.1680	0.0001153	3	26028	rs767338275	0.1489	0.1875	0.1496	0.1483	0.1780	0.1483	0.1480	0.1751	0.1739	0.1614	0.1315	0.1483	0.1329	0.1242	0.1327	0.1487	0.1502	0.1780	0.0436	0.0410	0.0435	0.0436	0.1054	0.0423	0.0418	0.1020	0.1006	0.1054	0.0047	0.0370	0.0242	0.0051	0.0024	0.0426	0.0065	0.0502	0.0438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	204.36	6	chr1	92297534	.	C	CA	204.36	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-0.347;DP=521;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2885;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=0;SOR=0.752	GT:AD:DP:GQ:PL	0/1:3,4:7:57:78,0,57	15	0	3	1
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6460.19	26	chr1	100196431	.	GAAAAA	G	6460.19	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.614;DP=620;ExcessHet=0.0003;FS=61.094;InbreedingCoeff=0.6325;MLEAC=6;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=26.26;ReadPosRankSum=0.842;SOR=2.465	GT:AD:DP:GQ:PL	0/1:1,4:9:77:319,82,78	12	0	6	1
chr1	158667938	158667938	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon15:c.A1958G:p.Y653C	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	1	1492	27	2	0	31	0.0102819	.	.	.	249461	not_specified|not_provided|Hereditary_spherocytosis_type_3|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|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	.	.	.	.	.	.	.	.	0.344	.	0.0079	0.00539137	0.0081	0.0021	0.0070	0	0.0079	0.0116	0.01	0.0027	0.0082017	1268	154602	rs148912436	0.0102	0.0102	0.0104	0.0099	0.0154	0.0100	0.0100	0.0128	0.0119	0.0019	0.0073	0.0079	2.52e-05	0.0087	0.0154	0.0115	0.0105	0.0031	0.0080	0.0080	0.0083	0.0078	0.0117	0.0076	0.0075	0.0110	0.0108	0.0024	0.0143	0.0113	0.0075	0	0.0065	0.0170	0.0117	0.0118	0.0027	0.07	0.35349	T	0.001	0.83351	D	0.754	0.43358	P	0.414	0.44907	B	0.011438	0.29535	N	0.000000	0.999965	0.52935	D	2.24	0.63355	M	0.65	0.52642	T	-6.87	0.93175	D	0.795	0.79118	-0.9562	0.39879	T	0.110	0.39699	T	10	0.012779087	0.00273	T	.	.	.	0.344	0.66582	.	.	0.816937234556	0.81521	0.28882995865412153	0.28795	0.240540764824	0.26595	0.524120688438	0.42207	T	0.52715	0.83569	D	-0.224042	0.17444	T	-0.0835662	0.64643	T	0.0240892415118421	0.01157	T	0.920308	0.71149	D	0.23421896	0.46239	0.2651286	0.52342	0.25036946	0.48038	0.2651286	0.52341	-9.523	0.71002	D	0.7509100976635117	0.83298	0.276	0.50916	B	.;.	.;.	3.723089	0.53211	23.3	0.99553839744912587	0.71335	0.96987	0.72040	D	AEFBI	0.726873	0.67539	D	0.299612223802585	0.56128	3.777236	0.282405057958761	0.54513	3.616012	0.995203443856585	0.34004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.95	4.95	0.64894	7.388000	0.79070	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:0.0:1.0	13.607	0.61522	603	0.67726	.;.	.	.	.	.	.	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	0.018127	0.045455	0.020380	0.011696	0.050000	0.008621	0.012195	0.000000	0.02632	965.33	34	chr1	158667938	.	T	C	965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.656;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.721;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,42:85:99:979,0,1059	18	0	1	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	9816.21	27	chr1	161214269	.	C	CTG	9816.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.259;DP=884;ExcessHet=1.8686;FS=5.863;InbreedingCoeff=-0.0857;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0.138;SOR=1.866	GT:AD:DP:GQ:PL	0/1:4,22:28:38:671,0,38	8	0	11	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	33500.5	67	chr1	161223055	.	CCACACA	C	33500.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.231;DP=2087;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.4615;MLEAC=12;MLEAF=0.316;MQ=59.98;MQRankSum=0;QD=25.57;ReadPosRankSum=0.204;SOR=0.757	GT:AD:DP:GQ:PL	0/1:21,43:79:99:1761,0,940	9	2	8	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7705.08	28	chr1	168293284	.	A	AGT	7705.08	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.747;DP=1427;ExcessHet=3.4183;FS=14.134;InbreedingCoeff=-0.1579;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.78;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,11:49:99:.:.:195,0,1085:.	6	0	13	0
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	1/1:0,127:127:99:3905,381,0	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	1/1:0,217:217:99:7184,651,0	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	0/1:34,37:71:99:994,0,878	4	8	7	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5789	54755.1	207	chr1	196690107	.	C	T	54755.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.913;DP=2557;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.96;MQRankSum=0;QD=23.47;ReadPosRankSum=0.71;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4323,408,0	5	8	6	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2105	11863.2	279	chr1	196743447	.	T	C	11863.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.21;DP=2476;ExcessHet=4.0268;FS=6.012;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=57.5;MQRankSum=-15.45;QD=5.68;ReadPosRankSum=-2.013;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,49:275:99:0|1:196743447_T_C:1332,0,9305:196743447	11	0	8	0
chr1	196788400	196788400	T	C	splicing	CFHR3	NM_021023:exon4:c.613+2T>C	.	.	.	662	853	5	2	0	9	0.00524781	0.9986	0.59	.	777070	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00159744	0.0041	0.0010	0.0009	0.0008	0.0011	0.0042	0.0059	0.0113	0.0034346	531	154602	rs138839071	0.0036	0.0035	0.0034	0.0038	0.0107	0.0035	0.0035	0.0101	0.0098	0.0007	0.0006	4.137e-05	0.0004	0.0030	0.0073	0.0035	0.0040	0.0107	0.0025	0.0025	0.0026	0.0023	0.0080	0.0023	0.0022	0.0058	0.0051	0.0005	0	0.0008	0	0.0010	0.0030	0	0.0037	0.0027	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.387762	0.02781	T	-0.320375	0.42533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.977034	0.58442	24.0	0.88683260554106547	0.18171	0.48316	0.28179	N	AEFGI	.	.	.	0.588779939643882	0.72473	5.811	0.300628380326113	0.55577	3.720569	8.00903597144056E-5	0.04552	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.226647	0.31609	2.94	2.94	0.33188	1.713000	0.37570	4.313000	0.42975	0.473000	0.21965	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:0.0:1.0	7.756	0.28093	531	0.73574	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05882	786.42	19	chr1	196788400	.	T	C	786.42	.	AC=2;AF=0.059;AN=34;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.059;MQ=45.81;QD=25.37;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,31:31:93:812,93,0	16	1	0	2
chr1	210094549	210094551	GAA	-	exonic	SYT14	.	nonframeshift deletion	SYT14:NM_001146262:exon5:c.670_672del:p.E225del,SYT14:NM_153262:exon5:c.670_672del:p.E225del,SYT14:NM_001146261:exon6:c.805_807del:p.E270del,SYT14:NM_001146264:exon6:c.805_807del:p.E270del,SYT14:NM_001256006:exon6:c.556_558del:p.E187del	Spinocerebellar ataxia, autosomal recessive 11, Autosomal recessive	0	1200	287	35	0	357	0.129489	.	.	.	206755	not_specified|not_provided|Autosomal_recessive_spinocerebellar_ataxia_11	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1	0.0796725	0.1181	0.0239	0.0504	0.0786	0.2129	0.1395	0.1186	0.1194	0.0182112	474	26028	rs1188666462	0.1323	0.1324	0.1321	0.1326	0.1391	0.1319	0.1316	0.1385	0.1382	0.0202	0.0601	0.0707	0.1022	0.2138	0.0961	0.1391	0.1184	0.1212	0.1023	0.1027	0.0981	0.1068	0.1369	0.1010	0.1004	0.1346	0.1336	0.0247	0.1685	0.0763	0.0714	0.0866	0.2251	0.0952	0.1369	0.0900	0.1295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3966.79	34	chr1	210094548	.	TGAA	T	3966.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.084;DP=849;ExcessHet=0.119;FS=1.067;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.199;SOR=0.612	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1581,0,1850	17	0	2	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	0/1:2,2:4:78:78,0,78	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	0/1:26,24:50:99:919,0,989	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	1/1:0,90:90:99:3105,270,0	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	0/1:39,36:75:99:1008,0,1160	5	4	10	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H	.	430	682	354	56	0	466	0.254645	.	.	.	1704218	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	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	0.286002	0.292929	0.293478	0.339181	0.250000	0.267241	0.304878	0.185606	0.1579	12064.4	139	chr1	226736941	.	C	T	12064.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-1.175;DP=1496;ExcessHet=0.1504;FS=35.966;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=-0.487;SOR=0.083	GT:AD:DP:GQ:PL	0/1:50,76:126:99:1929,0,1208	14	1	4	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	0/1:46,12:68:99:183,0,987	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	0/1:3,13:16:32:265,0,32	2	3	14	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	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	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.07895	10407.8	176	chr2	38071251	.	C	T	10407.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.82;DP=1593;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.148;SOR=0.772	GT:AD:DP:GQ:PL	0/1:143,136:279:99:3439,0,3158	16	0	3	0
chr2	43875190	43875190	C	T	exonic	ABCG8	.	synonymous SNV	ABCG8:NM_001357321:exon11:c.C1530T:p.Y510Y,ABCG8:NM_022437:exon11:c.C1533T:p.Y511Y	Sitosterolemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	585452	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs763640657	2.873e-05	2.873e-05	3.403e-05	2.338e-05	3.147e-05	2.151e-05	1.908e-05	2.285e-05	2.022e-05	2.987e-05	0	0	0	0	0	3.147e-05	8.279e-05	1.159e-05	6.563e-06	1.312e-05	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	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	.	.	.	.	.	.	.	.	0.02632	1171.33	33	chr2	43875190	.	C	T	1171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=714;ExcessHet=0;FS=13.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.385;SOR=1.942	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1185,0,1044	18	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	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	1/1:0,134:134:99:4369,402,0	2	10	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	not_specified|not_provided|Breast_and/or_ovarian_cancer|Lynch_syndrome_5	MedGen:CN169374|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	11614.6	18	chr2	47806751	.	CTT	C	11614.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.128;DP=1833;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.104;SOR=0.734	GT:AD:DP:GQ:PL	1/0:12,11:65:46:926,559,853	17	0	2	0
chr2	73385903	73385903	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.35_36insGGAGGA:p.E28_A29insEE,ALMS1:NM_015120:exon1:c.35_36insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215261	not_specified|Alstrom_syndrome|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs193922695	0.0632	0.0483	0.0617	0.0645	0.1063	0.0626	0.0624	0.1033	0.1021	0.0218	0.1063	0.0554	0.0749	0.0494	0.0665	0.0566	0.0607	0.0967	0.0594	0.0601	0.0569	0.0622	0.1116	0.0584	0.0580	0.1033	0.1000	0.0227	0	0.1047	0.0698	0.0753	0.0617	0.0602	0.0672	0.0589	0.1116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	26989.6	33	chr2	73385903	.	T	TGGAGGA	26989.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.617;DP=903;ExcessHet=1.3;FS=3.645;InbreedingCoeff=-0.149;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=34.25;ReadPosRankSum=-0.523;SOR=1.337	GT:AD:DP:GQ:PL	0/1:18,24:42:99:937,0,663	13	1	5	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	1/1:0,4:4:12:133,12,0	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	1/1:0,3:3:9:122,9,0	2	9	0	8
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.75	669.42	1	chr2	113063078	.	A	T	669.42	.	AC=15;AF=0.75;AN=20;BaseQRankSum=0;DP=32;ExcessHet=0;FS=0;InbreedingCoeff=0.3628;MLEAC=22;MLEAF=1;MQ=60;MQRankSum=0;QD=29.11;ReadPosRankSum=0;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	7	1	9
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	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	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.75	734.9	1	chr2	113063095	.	A	G	734.9	.	AC=15;AF=0.75;AN=20;BaseQRankSum=0;DP=33;ExcessHet=0;FS=0;InbreedingCoeff=0.3785;MLEAC=22;MLEAF=1;MQ=60;MQRankSum=0;QD=29.4;ReadPosRankSum=0.341;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	7	1	9
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	5687.97	23	chr2	151546001	.	T	TAA	5687.97	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:22,10:46:99:218,0,722	13	0	6	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:8:0|1:151680729_C_T:8,0,4767:151680729	12	0	6	1
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	0/1:0,19:55:99:1389,714,564	10	0	9	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	1315.81	90	chr2	178535858	.	GA	G	1315.81	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.521;DP=2933;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.587;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:89,15:124:99:107,0,1953	8	0	11	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	292.2	18	chr2	178698916	.	TA	T	292.2	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.107;DP=437;ExcessHet=5.3738;FS=5.449;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=0.365;SOR=0.323	GT:AD:DP:GQ:PL	0/1:8,3:11:45:45,0,165	12	0	6	1
chr2	178748073	178748073	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.T14327C:p.L4776S	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	1	1514	5	2	0	9	0.00296345	.	.	.	56935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	.	0.00259585	0.0016	0	0.0017	0.0001	0	0.0002	0.0022	0.0098	0.0014036	217	154602	rs142132973	0.0009	0.0009	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0011	0.0002	5.048e-05	0	0.0092	0.0002	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0089	0.0004	0.0004	0.0068	0.0061	2.409e-05	0	0.0005	0.0003	0.0002	0	0	0.0003	0.0009	0.0089	0.0	0.91255	D	0.413	0.14412	T	0.013	0.16609	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	-0.49	0.70365	T	1.61	0.00644	N	0.133	0.12913	-0.8046	0.54873	T	0.247	0.61647	T	9	0.003499031	0.00062	T	.	.	.	0.114	0.32008	.	.	0.415820034956	0.41198	.	.	.	.	.	.	.	.	.	.	-0.57488	0.00207	T	-0.591303	0.13552	T	0.0135396634239514	0.00249	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-3.488	0.16265	T	.	.	.	.	.	.	.	-0.157106	0.03316	0.578	0.99023995424720712	0.50634	0.09458	0.15209	N	ALL	0.060665	0.11546	N	-1.01190128807363	0.08356	0.391508	-1.05563316139597	0.08590	0.4230754	0.999981579601552	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	6.05	-0.358	0.11950	0.142000	0.15917	.	.	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.553:0.0:0.447:0.0	10.317	0.42927	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	2854.33	35	chr2	178748073	.	A	G	2854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=1073;ExcessHet=0;FS=5.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.579;SOR=0.983	GT:AD:DP:GQ:PL	0/1:115,111:226:99:2868,0,3220	18	0	1	0
chr2	195738049	195738049	G	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon65:c.C11947T:p.R3983W	.	432	1075	14	1	0	16	0.00738689	.	.	.	590986	Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation|Abdominal_situs_inversus|Primary_ciliary_dyskinesia|not_provided	MedGen:C5681165,Orphanet:399805|Human_Phenotype_Ontology:HP:0003363,MedGen:C0037221|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.545	.	0.0075	0.00439297	0.0087	0.0017	0.0033	0	0.0123	0.0118	0.01	0.0068	0.0085898	1328	154602	rs114621989	0.0092	0.0092	0.0092	0.0091	0.0100	0.0090	0.0090	0.0099	0.0098	0.0016	0.0041	0.0044	5.039e-05	0.0136	0.0050	0.0100	0.0078	0.0077	0.0072	0.0071	0.0076	0.0067	0.0105	0.0068	0.0067	0.0098	0.0096	0.0016	0.0395	0.0058	0.0040	0.0002	0.0125	0.0034	0.0105	0.0038	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.68	0.99435	H	1.4	0.33630	T	-7.69	0.95603	D	0.955	0.96416	-0.0663	0.80860	T	0.307	0.67759	T	10	0.014028847	0.00296	T	.	.	.	0.545	0.81077	.	.	0.475352637851	0.47162	0.9096751928006794	0.90941	0.237508045894	0.26287	0.696987569332	0.66709	T	0.273031	0.64546	T	-0.0849219	0.38912	T	0.115627	0.77943	D	0.122496466792581	0.14672	T	0.998616	0.99247	D	0.8600765	0.88091	0.82640654	0.89951	0.8600765	0.88093	0.7841544	0.87284	-13.08	0.91789	D	.	.	0.945	0.86403	P	.;.	.;.	4.773758	0.77302	26.7	0.99882093547858575	0.95813	0.75467	0.36951	D	AEFDGBCI	0.728546	0.67653	D	0.655860558299101	0.76749	6.544172	0.441226445923178	0.64155	4.664338	0.999894865939282	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.591603	0.36755	0	.	.	4.51	3.59	0.40253	2.355000	0.43761	3.671000	0.39437	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:0.4753:0.5247	11.010	0.46872	926	0.17793	.;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.000000	0.009511	0.005917	0.000000	0.000000	0.009259	0.007634	0.02632	971.33	34	chr2	195738049	.	G	A	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.626;DP=771;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.29;SOR=0.616	GT:AD:DP:GQ:PL	0/1:65,46:111:99:985,0,1648	18	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1315.26	23	chr2	222201817	.	C	CA	1315.26	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.096;DP=545;ExcessHet=17.0548;FS=1.807;InbreedingCoeff=-0.594;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=-0.101;SOR=0.937	GT:AD:DP:GQ:PL	0/1:6,13:25:60:266,0,110	15	0	4	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	1/1:0,116:116:99:3448,348,0	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	1/1:1,13:14:4:450,4,0	7	3	9	0
chr2	240025339	240025339	A	C	UTR5	NDUFA10	NM_001322020:c.-38T>G;NM_004544:c.-38T>G;NM_001322019:c.-38T>G	.	.	Leigh syndrome, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	210807	not_specified|Leigh_syndrome|Mitochondrial_complex_I_deficiency,_nuclear_type_1	MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0003	0.0076	0	0	0	0	0	0	7.12e-05	11	154602	rs374970309	0.0001	0.0001	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0007	0	0	0	0	0	0.0004	0	0.0018	0.0018	0.0017	0.0020	0.0060	0.0016	0.0016	0.0054	0.0052	0.0060	0	0.0016	0	0	0	0	0	0.0009	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	220.33	36	chr2	240025339	.	A	C	220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=646;ExcessHet=0;FS=1.44;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=1.51;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,11:31:99:234,0,404	18	0	1	0
chr2	240746169	240746169	G	C	exonic	KIF1A	.	synonymous SNV	KIF1A:NM_001379636:exon28:c.C2769G:p.S923S,KIF1A:NM_001379637:exon28:c.C2844G:p.S948S,KIF1A:NM_001379639:exon28:c.C2769G:p.S923S,KIF1A:NM_001379640:exon28:c.C2769G:p.S923S,KIF1A:NM_001379641:exon28:c.C2769G:p.S923S,KIF1A:NM_001379648:exon28:c.C2844G:p.S948S,KIF1A:NM_001379649:exon28:c.C2769G:p.S923S,KIF1A:NM_001379650:exon28:c.C2769G:p.S923S,KIF1A:NM_001379651:exon28:c.C2769G:p.S923S,KIF1A:NM_001379653:exon28:c.C2769G:p.S923S,KIF1A:NM_004321:exon28:c.C2769G:p.S923S,KIF1A:NM_001320705:exon29:c.C2796G:p.S932S,KIF1A:NM_001330289:exon29:c.C2796G:p.S932S,KIF1A:NM_001330290:exon29:c.C2871G:p.S957S,KIF1A:NM_001379632:exon29:c.C3021G:p.S1007S,KIF1A:NM_001379633:exon29:c.C3045G:p.S1015S,KIF1A:NM_001379634:exon29:c.C2871G:p.S957S,KIF1A:NM_001379635:exon29:c.C2871G:p.S957S,KIF1A:NM_001379638:exon29:c.C2796G:p.S932S,KIF1A:NM_001379642:exon29:c.C3045G:p.S1015S,KIF1A:NM_001379645:exon29:c.C3045G:p.S1015S,KIF1A:NM_001379646:exon29:c.C2871G:p.S957S,KIF1A:NM_001244008:exon30:c.C3072G:p.S1024S,KIF1A:NM_001379631:exon30:c.C3147G:p.S1049S	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	366292	Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|Hereditary_spastic_paraplegia_30|not_specified|not_provided|KIF1A-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	.	.	0.0013	0	0	0	0	0.0026	0.0043	0.0001	0.000414	64	154602	rs73102625	0.0005	0.0005	0.0004	0.0005	0.0068	0.0004	0.0004	0.0051	0.0045	0.0002	0.0009	0.0128	0	0.0001	0.0068	0.0001	0.0013	0.0002	0.0006	0.0006	0.0005	0.0006	0.0024	0.0005	0.0004	0.0018	0.0016	2.414e-05	0	0.0024	0.0104	0	0	0	0.0002	0.0005	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	.	.	.	.	.	.	.	.	0.02632	1899.54	38	chr2	240746169	.	G	C	1899.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=739;ExcessHet=0.3672;FS=2.204;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.231;SOR=0.5	GT:AD:DP:GQ:PL	0/1:21,25:46:99:620,0,544	18	0	1	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:.:.:707,54,0:.	3	10	6	0
chr3	63912684	63912684	-	GCAGCAGCA	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.86_87insGCAGCAGCA:p.Q39_P40insQQQ,ATXN7:NM_001377406:exon2:c.86_87insGCAGCAGCA:p.Q39_P40insQQQ,ATXN7:NM_000333:exon3:c.86_87insGCAGCAGCA:p.Q39_P40insQQQ,ATXN7:NM_001377405:exon3:c.86_87insGCAGCAGCA:p.Q39_P40insQQQ	Spinocerebellar ataxia 7, Autosomal dominant	0	160	39	2	25	68	0.118457	.	.	.	3190506	ATXN7-related_disorder|Retinal_dystrophy	.|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	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0643	0	0	0	0	0.0455	0	0.0889	0.0005175	80	154602	rs576518931	0.0478	0.0366	0.0481	0.0474	0.0502	0.0474	0.0473	0.0498	0.0496	0.0103	0.0349	0.0596	0.0066	0.0277	0.0243	0.0502	0.0410	0.0310	0.0342	0.0344	0.0347	0.0338	0.0483	0.0334	0.0331	0.0469	0.0463	0.0133	0.0618	0.0340	0.0528	0.0065	0.0356	0.0284	0.0483	0.0365	0.0236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1348.03	19	chr3	63912684	.	G	GGCAGCAGCA	1348.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.842;DP=239;ExcessHet=1.1637;FS=2.535;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.4;ReadPosRankSum=0.18;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,4:7:99:.:.:156,0,114:.	18	0	1	0
chr3	87259754	87259754	-	A	UTR3	POU1F1	NM_000306:c.*139_*140insT;NM_001122757:c.*139_*140insT	.	.	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	804	554	68	85	11	249	0.17682	.	.	.	296319	Combined_Pituitary_Hormone_Deficiency,_Recessive|Frontotemporal_dementia	MedGen:CN239344|Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0213658	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1301058822	0.0204	0.0247	0.0212	0.0196	0.0427	0.0200	0.0199	0.0398	0.0387	0.0427	0.0192	0.0069	0.0076	0.0241	0.0199	0.0227	0.0216	0.0083	0.0258	0.0258	0.0260	0.0255	0.0387	0.0251	0.0248	0.0371	0.0365	0.0387	0.0011	0.0222	0.0078	0.0044	0.0254	0.0204	0.0229	0.0252	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	818.84	4	chr3	87259754	.	T	TA	818.84	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.15;DP=90;ExcessHet=0.1645;FS=3.112;InbreedingCoeff=0.2;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=25.59;ReadPosRankSum=0.674;SOR=0.123	GT:AD:DP:GQ:PL	0/1:3,4:7:69:95,0,69	16	0	1	2
chr3	142459225	142459225	A	G	splicing	ATR	NM_001354579:exon42:c.7157+2T>C;NM_001184:exon43:c.7349+2T>C	.	.	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	0.9779	0.56	.	794342	Seckel_syndrome_1|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0004	9.917e-05	0	0	0	0	0	0.0031	0.0003493	54	154602	rs200556378	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0	1.799e-06	0.0004	0.0032	0.0001	0.0001	6.422e-05	0.0002	0.0035	8.16e-05	6.718e-05	0.0022	0.0018	4.809e-05	0	0	0	0	0	0	0	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30341	0.83239	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.407994	0.68162	25.2	0.97554321019205759	0.34587	0.98281	0.81223	D	AEFDBIJ	.	.	.	0.867105099824678	0.90059	10.23511	0.652768778395702	0.78815	6.953242	0.962538290744902	0.28629	0.156188	0.03335	0	0.156173	0.03658	0	0.083675	0.02720	0	0.092715	0.02821	0	0.808912	0.48015	4.3	3.14	0.35196	7.364000	0.78783	6.189000	0.54741	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.9141:0.0:0.0859:0.0	9.449	0.37876	366	0.84579	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1052.33	34	chr3	142459225	.	A	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=707;ExcessHet=0;FS=2.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.183;SOR=0.882	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1066,0,1319	18	0	1	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293178	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	95762.0	329	chr3	149141200	.	C	CTTTTT	95762.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:242,50:369:99:2477,0,10072	14	0	5	0
chr3	149172318	149172318	-	CACA	UTR3	HPS3	NM_001308258:c.*96_*97insCACA;NM_032383:c.*96_*97insCACA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	289088	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs374839757	0.1024	0.0998	0.1004	0.1041	0.1572	0.1016	0.1013	0.1528	0.1510	0.0572	0.0746	0.0510	0.1572	0.1543	0.0386	0.0972	0.0986	0.1216	0.1386	0.1400	0.1352	0.1421	0.2299	0.1370	0.1363	0.2187	0.2142	0.0804	0.1479	0.1238	0.0817	0.2299	0.2501	0.0664	0.1548	0.1201	0.1704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1962.02	4	chr3	149172318	.	T	TCACA	1962.02	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.191;DP=258;ExcessHet=1.6165;FS=0;InbreedingCoeff=-0.0375;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.66;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,4:5:30:.:.:165,0,30:.	15	0	4	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|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	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.2632	16346.2	100	chr3	170998041	.	G	A	16346.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.17;DP=1492;ExcessHet=1.8686;FS=3.247;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.463;SOR=0.505	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1695,0,1067	10	1	8	0
chr4	5628743	5628743	-	AA	intronic	EVC2	.	.	.	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	298770	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0740815	0.0492	0.1960	0.0298	0	0.0759	0.0425	0.0466	0.0065	0.0013447	35	26028	rs1169314367	0.0404	0.0370	0.0414	0.0393	0.1983	0.0401	0.0400	0.1942	0.1925	0.1983	0.0327	0.0253	8.361e-05	0.0654	0.0645	0.0384	0.0444	0.0075	0.0913	0.0915	0.0907	0.0919	0.2185	0.0900	0.0895	0.2147	0.2132	0.2185	0.0629	0.0520	0.0211	0.0002	0.0789	0.0753	0.0413	0.0693	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12240.0	36	chr4	5628743	.	T	TAA	12240.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1297;ExcessHet=0.0419;FS=0.659;InbreedingCoeff=0.3667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=0.689;SOR=0.786	GT:AD:DP:GQ:PL	0/1:45,33:80:99:960,0,1458	18	0	1	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	0/1:139,120:259:99:3257,0,4029	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	0/1:98,106:204:99:2812,0,2554	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	0/1:59,47:106:99:1233,0,1329	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	1/1:0,176:176:99:5985,528,0	1	11	7	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.3947	26831.8	169	chr4	153703504	.	T	C	26831.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.322;DP=2021;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.163;SOR=0.709	GT:AD:DP:GQ:PL	0/1:76,84:160:99:2197,0,1986	7	3	9	0
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	28	792	564	118	20	820	0.33557	.	.	.	31459	not_specified|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|Familial_visceral_amyloidosis,_Ostertag_type|not_provided	MedGen:CN169374|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	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	0.252266	0.207071	0.221467	0.277778	0.250000	0.250000	0.253049	0.310606	0.3158	43127.9	33	chr4	154586438	.	T	C	43127.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.31;DP=2600;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=0.169;SOR=0.683	GT:AD:DP:GQ:PL	0/1:111,127:238:99:3363,0,2847	10	3	6	0
chr5	251063	251063	G	A	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon11:c.G1479A:p.K493K,SDHA:NM_004168:exon12:c.G1623A:p.K541K	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	189	1312	20	1	0	22	0.00831444	.	.	.	247307	Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Dilated_cardiomyopathy_1GG|Hereditary_cancer-predisposing_syndrome|Hereditary_pheochromocytoma-paraganglioma|not_specified|not_provided|Leigh_syndrome	MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0021	0.00199681	0.0021	0.0008	0.0019	0	0.0012	0.0029	0.0044	0.0010	0.0019922	308	154602	rs35502109	0.0022	0.0022	0.0021	0.0023	0.0249	0.0021	0.0021	0.0210	0.0196	0.0013	0.0026	0.0029	0	0.0012	0.0249	0.0022	0.0036	0.0010	0.0022	0.0022	0.0020	0.0023	0.0049	0.0020	0.0019	0.0040	0.0037	0.0007	0	0.0049	0.0017	0	0.0021	0.0204	0.0026	0.0038	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025444	0.058333	0.034060	0.017391	0.000000	0.044643	0.003650	0.000000	0.05263	2190.83	38	chr5	251063	.	G	A	2190.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.134;DP=792;ExcessHet=0.119;FS=1.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.84;MQRankSum=-1.031;QD=10.85;ReadPosRankSum=0.241;SOR=0.839	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1170,0,1296	17	0	2	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	9628.75	13	chr5	13886135	.	CAAA	C	9628.75	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.821;DP=859;ExcessHet=2.9153;FS=5.194;InbreedingCoeff=-0.2258;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=0.636;SOR=1.251	GT:AD:DP:GQ:PL	0/1:2,15:21:27:646,0,50	7	0	12	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	0/1:10,9:19:99:.:.:227,0,394:.	6	0	13	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5263	31326.9	142	chr5	138556481	.	G	A	31326.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.479;DP=1832;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.509;SOR=0.711	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1311,0,1372	4	5	10	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	0/1:111,81:192:99:2065,0,2567	9	0	10	0
chr6	6318562	6318562	C	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.G103T:p.V35L	Factor XIIIA deficiency, Autosomal recessive	18	1151	323	30	0	383	0.142644	.	.	.	31571	not_specified|not_provided|Factor_XIII,_A_subunit,_deficiency_of|Myocardial_infarction,_protection_against|Venous_thrombosis,_protection_against	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:C3277063|MedGen:C2751120	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.2281	0.147764	0.2059	0.1840	0.2566	0.0006	0.2123	0.2486	0.2126	0.1163	0.204499	31616	154602	rs5985	0.2350	0.2350	0.2386	0.2313	0.2581	0.2343	0.2340	0.2573	0.2570	0.1795	0.2536	0.1703	0.0008	0.2069	0.1336	0.2581	0.2120	0.1164	0.2150	0.2153	0.2200	0.2098	0.2557	0.2131	0.2123	0.2525	0.2512	0.1844	0.3717	0.2302	0.1696	0.0023	0.2059	0.1258	0.2557	0.2075	0.1167	1.0	0.53172	T	0.428	0.13792	T	.	.	.	.	.	.	0.549870	0.11447	N	0.784671	1	0.08975	P	.	.	.	-2.06	0.85875	D	-0.27	0.47683	N	0.018	0.00252	-1.0984	0.04290	T	0.089	0.34160	T	9	0.0058254898	0.00130	T	.	.	.	0.216	0.50959	0.521	0.62368	.	.	0.251286304130597	0.25042	0.218364611194	0.24371	0.279310077429	0.07396	T	0.006489	0.05922	T	-0.532642	0.00371	T	-0.394059	0.34077	T	0.000545350228055955	0.00005	T	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.04847	B	.;.;.	.;.;.	-1.135760	0.00599	0.015	0.36128701424949611	0.02307	0.01153	0.04166	N	AEFDBI	0.092907	0.18803	N	-1.50731017501558	0.01801	0.07894147	-1.43471435441821	0.02911	0.1348284	0.99996711313162	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	4.64	1.89	0.24700	-0.148000	0.10203	-0.167000	0.11264	-1.952000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0869:0.1605:0.5922:0.1605	4.197	0.09908	975	0.05339	.;.;.	.	.	.	.	rs5985	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	0.125256	0.095745	0.116848	0.130178	0.350000	0.129310	0.136943	0.114504	0.1579	6592.4	33	chr6	6318562	.	C	A	6592.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.586;DP=986;ExcessHet=2.0135;FS=0.523;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.146;SOR=0.62	GT:AD:DP:GQ:PL	0/1:48,38:86:99:848,0,1093	13	0	6	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	1/1:0,433:433:99:14546,1300,0	1	11	7	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del,ATXN1:NM_000332:exon8:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	17	803	243	34	425	736	0.162233	.	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	13328.5	41	chr6	16327684	.	ATGC	A	13328.5	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.554;DP=1396;ExcessHet=6.1876;FS=1.778;InbreedingCoeff=-0.2955;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0;QD=20.63;ReadPosRankSum=0.467;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,15:25:99:.:.:2372,1004,1719:.	16	0	3	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	0/1:15,70:85:99:1900,0,216	1	9	9	0
chr6	39906600	39906600	G	A	exonic	MOCS1	.	synonymous SNV	MOCS1:NM_001358529:exon10:c.C1620T:p.H540H,MOCS1:NM_001358531:exon10:c.C1407T:p.H469H,MOCS1:NM_001358530:exon11:c.C1668T:p.H556H	Molybdenum cofactor deficiency A, Autosomal recessive	1	1492	28	1	0	30	0.00995355	.	.	.	895948	not_provided|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A	MedGen:C3661900|MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00139776	0.0023	0.0013	0.0017	0.0001	0.0002	0.0033	0.0045	0.0011	0.0023221	359	154602	rs149233109	0.0031	0.0031	0.0031	0.0032	0.0132	0.0030	0.0030	0.0108	0.0099	0.0008	0.0022	0.0067	5.038e-05	7.538e-05	0.0132	0.0035	0.0034	0.0011	0.0024	0.0024	0.0024	0.0023	0.0042	0.0022	0.0021	0.0034	0.0031	0.0011	0	0.0042	0.0081	0.0002	0	0.0136	0.0030	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	.	.	.	.	.	.	.	.	0.02632	1307.33	36	chr6	39906600	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.449;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1321,0,1111	18	0	1	0
chr6	51648091	51648091	G	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon63:c.C11338T:p.P3780S	Polycystic kidney and hepatic disease, Autosomal recessive	1	1518	2	1	0	4	0.00131579	.	.	.	212523	PKHD1-related_disorder|not_specified|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.278	0.0439955096572	0.0013	0.000399361	0.0016	0.0005	0.0010	0	0	0.0025	0	0.0003	0.0015847	245	154602	rs41273722	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0012	0.0001	2.521e-05	0.0004	0.0010	0.0026	0.0018	0.0004	0.0013	0.0013	0.0014	0.0013	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0.0011	0.0012	0.0003	0	0.0003	0	0.0024	0.0028	0	0.213	0.19430	T	0.0	0.92824	D	0.999	0.77913	D	0.927	0.66185	D	0.000116	0.50451	D	0.084638	0.68822	0.33300	D	2.175	0.60977	M	-1.93	0.84842	D	-1.69	0.40274	N	0.452	0.48963	0.092	0.84031	D	0.632	0.87110	D	10	0.02890262	0.01019	T	0.043996	0.61267	D	0.278	0.59497	.	.	0.966569475504	0.96620	0.46922739786967055	0.46841	0.195989524406	0.21957	0.384402215481	0.22879	T	0.183789	0.53624	T	-0.30049	0.08614	T	-0.208087	0.53879	T	0.0830832272768021	0.10377	T	0.816518	0.47234	T	0.082296066	0.18951	0.1283553	0.30881	0.082296066	0.18951	0.1283553	0.30880	-2.541	0.06068	T	0.5877003342696331	0.65449	0.129	0.27702	B	.	.	3.460068	0.48218	22.6	0.99763191342688695	0.85254	0.92650	0.56212	D	AEFBI	0.328658	0.42925	N	0.421040448651109	0.62581	4.476246	0.356432187268895	0.58895	4.063194	0.999998516581733	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	3.725000	0.54697	8.503000	0.77365	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	17.415	0.87389	640	0.64132	.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	648.33	34	chr6	51648091	.	G	A	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.199;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,28:68:99:662,0,897	18	0	1	0
chr6	52050161	52050161	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2275A:p.A759T,PKHD1:NM_170724:exon22:c.G2275A:p.A759T	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1523786	Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.101034951189	.	.	7.423e-05	0	8.649e-05	0	0	1.5e-05	0	0.0004	5.82e-05	9	154602	rs550730673	4.72e-05	4.788e-05	3.131e-05	6.326e-05	0.0006	3.794e-05	3.476e-05	0.0005	0.0004	0	0	0	0	0	0.0004	1.439e-05	1.656e-05	0.0006	2.628e-05	2.627e-05	1.285e-05	4.033e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.34800	T	0.337	0.31125	T	0.915	0.50599	P	0.395	0.44317	B	0.113628	0.19308	N	0.511935	1	0.08975	N	2.215	0.62545	M	-2.13	0.87989	D	-1.1	0.28497	N	0.265	0.30118	-0.5660	0.66173	T	0.396	0.74887	T	10	0.10588005	0.19592	T	0.101035	0.77368	D	0.318	0.64008	0.309	0.28128	0.947683704956	0.94713	0.3973606380263486	0.39651	0.213808415534	0.23901	0.328379452229	0.14689	T	0.249297	0.61924	T	-0.236613	0.15783	T	-0.210062	0.53690	T	0.130280204329559	0.15408	T	0.772023	0.40277	T	0.09555055	0.22489	0.09528257	0.22592	0.09555055	0.22489	0.09528257	0.22591	-3.455	0.15807	T	0.7175199945611166	0.79831	0.111	0.21578	B	.;.	.;.	2.023647	0.25718	16.86	0.9971364310916101	0.81493	0.03749	0.09053	N	AEFBCI	0.078671	0.15877	N	0.0653614029288907	0.44851	2.751812	0.0267083913233828	0.40960	2.452874	0.999677444377244	0.41644	0.525926	0.21836	0	0.615948	0.52940	0	0.491513	0.07944	0	0.584449	0.35598	0	.	.	5.64	3.82	0.43153	1.517000	0.35474	2.287000	0.31935	0.599000	0.40250	0.016000	0.19238	0.855000	0.27430	0.886000	0.42526	0.0:0.5619:0.341:0.0971	7.963	0.29245	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1020.33	38	chr6	52050161	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.307;DP=788;ExcessHet=0;FS=10.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.56;SOR=1.733	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1034,0,2015	18	0	1	0
chr6	75126363	75126363	A	G	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon24:c.T2956C:p.Y986H,COL12A1:NM_004370:exon39:c.T6448C:p.Y2150H	Bethlem myopathy 2	426	1094	2	0	0	2	0.000913242	.	.	.	455918	not_provided|not_specified|Bethlem_myopathy_2|Ullrich_congenital_muscular_dystrophy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.678	0.090501253264	0.0003	.	0.0003	0	0.0004	0	0	0.0004	0	0.0004	0.0002652	41	154602	rs200450866	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0029	0.0025	0.0001	0.0005	0.0006	0	1.877e-05	0.0042	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.825e-05	0	0.0012	0.0009	0	9.414e-05	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.87	0.83286	M	0.01	0.62459	T	-2.72	0.62151	D	0.896	0.89577	0.001	0.82287	D	0.434	0.77459	T	10	0.7310128	0.74298	D	0.090501	0.75530	D	0.678	0.88157	.	.	0.805575891683	0.80375	0.8442054365124602	0.84381	1.56905615492	0.88162	0.758734583855	0.75742	T	0.192915	0.71387	T	0.0185476	0.54185	T	0.129415	0.78853	D	0.210856601595879	0.20998	T	0.893011	0.63503	D	0.8702027	0.88877	0.85091674	0.91565	0.8702027	0.88878	0.85091674	0.91566	-8.954	0.67400	D	0.7105453990594863	0.79071	0.831	0.79568	P	.;.;.;.;.	.;.;.;.;.	5.007754	0.83134	28.0	0.99815660112786253	0.89885	0.99535	0.97177	D	AEBI	0.937992	0.93654	D	0.903090271760787	0.91909	11.130	0.859243371779087	0.93545	12.11364	0.999999999999858	0.74766	0.75658	0.98901	0	0.573888	0.26702	0	0.618467	0.43123	0	0.656636	0.63459	0	.	.	5.7	5.7	0.88690	8.947000	0.92735	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	15.974	0.79840	856	0.34373	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	962.33	34	chr6	75126363	.	A	G	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=705;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.217;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,40:74:99:976,0,734	18	0	1	0
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3353.52	8	chr6	107876670	.	C	CAA	3353.52	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.14;DP=678;ExcessHet=2.8258;FS=8.916;InbreedingCoeff=-0.2482;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.274;SOR=1.258	GT:AD:DP:GQ:PL	1/0:3,6:14:8:246,8,58	11	0	7	1
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q,ZBTB24:NM_014797:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	1	1498	23	0	0	23	0.00761842	.	.	.	246995	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_specified|not_provided|Kabuki_syndrome_1	MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	0.012588	0.010101	0.008152	0.017544	0.000000	0.025862	0.021341	0.003788	0.02632	1690.33	35	chr6	109481881	.	C	T	1690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=728;ExcessHet=0;FS=2.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.951;SOR=0.444	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1704,0,1137	18	0	1	0
chr6	129464354	129464354	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon50:c.C7057T:p.R2353C,LAMA2:NM_001079823:exon50:c.C7057T:p.R2353C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	301389	LAMA2-related_muscular_dystrophy|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|Primary_dilated_cardiomyopathy|not_provided|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23	MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.641	0.149056862123	0.0002	.	8.254e-05	0	8.738e-05	0.0001	0	0.0001	0	6.057e-05	6.47e-05	10	154602	rs145885540	8.085e-05	8.14e-05	6.409e-05	9.778e-05	0.0009	6.879e-05	6.431e-05	0.0003	0.0002	0.0001	0.0001	3.838e-05	7.563e-05	0	0.0009	8.107e-05	8.295e-05	3.48e-05	0.0001	0.0001	0.0001	0.0002	0.0007	9.769e-05	8.28e-05	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0	0.0001	0	0	0.0	0.91255	D	.	.	.	0.97	0.56973	D	0.337	0.42281	B	0.000000	0.84330	D	0.094456	1	0.81001	D	2.39	0.68882	M	-1.27	0.79277	T	-5.0	0.82341	D	0.903	0.94432	-0.6505	0.62692	T	0.247	0.61589	T	9	0.8161694	0.80855	D	0.149057	0.83091	D	0.641	0.86333	.	.	0.902513789421	0.90154	0.7105046387316458	0.70992	0.377055545769	0.39141	0.797083973885	0.81519	T	0.067677	0.74598	T	0.170771	0.71194	D	0.303717	0.88368	D	0.731377124786377	0.42282	D	0.922208	0.71716	D	0.5583806	0.70419	0.5080504	0.71569	0.5583806	0.70421	0.5080504	0.71569	-14.153	0.93543	D	0.736636749109076	0.81856	0.883	0.81647	P	.;.;.	.;.;.	4.834664	0.78871	27.0	0.99882579619656287	0.95813	0.96484	0.69368	D	AEFGBI	0.874008	0.79667	D	0.453357154322965	0.64394	4.692888	0.551916713069094	0.71531	5.668994	0.999915716367529	0.45857	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	5.677000	0.67810	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:1.0:0.0:0.0	20.192	0.98232	758	0.50837	Laminin G domain;Laminin G domain;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	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	973.33	36	chr6	129464354	.	C	T	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.648;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.33;SOR=0.645	GT:AD:DP:GQ:PL	0/1:63,45:108:99:987,0,1504	18	0	1	0
chr6	131847856	131847856	-	GGGT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	299002	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879243445	0.0008	0.0007	0.0005	0.0011	0.0096	0.0008	0.0007	0.0090	0.0087	0.0002	0.0004	9.893e-05	0	0	0.0039	0.0001	0.0005	0.0096	0.0006	0.0006	0.0004	0.0008	0.0123	0.0005	0.0004	0.0096	0.0087	8.519e-05	0	0.0004	0	0	0	0	0.0003	0.0005	0.0123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3351.19	17	chr6	131847856	.	G	GGGGT	3351.19	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=625;ExcessHet=3.6106;FS=4.874;InbreedingCoeff=-0.1737;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.168;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,12:31:99:.:.:302,0,788:.	18	0	1	0
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|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|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	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	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.1316	6346.37	34	chr6	131851228	.	A	C	6346.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.096;DP=1006;ExcessHet=1.3;FS=1.108;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1214,0,1520	14	0	5	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3077.49	4	chr6	152391580	.	G	GAAAAAAA	3077.49	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.027;DP=997;ExcessHet=2.7716;FS=1.26;InbreedingCoeff=-0.0999;MLEAC=5;MLEAF=0.139;MQ=59.98;MQRankSum=0;QD=6.93;ReadPosRankSum=-1.113;SOR=0.817	GT:AD:DP:GQ:PL	0/1:32,5:37:62:62,0,1254	14	1	3	1
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	0/1:26,41:67:99:1183,0,653	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|1:42,39:81:99:1|0:170561925_A_ACAG:1335,0,1522:170561925	9	0	9	1
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|1:53,50:103:99:0|1:21867834_G_GT:1940,0,2073:21867834	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	0/1:10,6:16:92:92,0,201	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|1:30,9:39:99:0|1:56019585_C_A:288,0,1233:56019585	9	0	10	0
chr7	75954079	75954079	G	A	exonic	POR	.	synonymous SNV	POR:NM_000941:exon2:c.G87A:p.T29T,POR:NM_001382655:exon2:c.G87A:p.T29T,POR:NM_001382659:exon2:c.G87A:p.T29T,POR:NM_001382662:exon2:c.G87A:p.T29T,POR:NM_001367562:exon3:c.G87A:p.T29T,POR:NM_001382657:exon3:c.G87A:p.T29T,POR:NM_001382658:exon3:c.G87A:p.T29T	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1497	25	0	0	25	0.00828089	.	.	.	306779	not_provided|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency	MedGen:C3661900|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.080	.	0.0062	0.0081869	0.0048	0.0243	0.0023	0	0	0.0014	0.0042	0.0126	0.0035252	545	154602	rs41295381	0.0018	0.0018	0.0015	0.0021	0.0190	0.0017	0.0017	0.0178	0.0173	0.0190	0.0024	0.0045	0	0.0001	0.0097	0.0006	0.0035	0.0099	0.0066	0.0066	0.0063	0.0069	0.0202	0.0063	0.0061	0.0190	0.0186	0.0202	0	0.0031	0.0035	0	9.422e-05	0.0136	0.0007	0.0057	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.013092	0.015152	0.009511	0.020468	0.000000	0.008621	0.006098	0.022727	0.05263	2422.83	34	chr7	75954079	.	G	A	2422.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.74;DP=822;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.61;SOR=0.694	GT:AD:DP:GQ:PL	0/1:52,35:87:99:910,0,1246	17	0	2	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	1/1:1,52:58:99:.:.:1499,146,0:.	1	11	7	0
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	1	1516	5	0	0	5	0.00164636	0.5408	0.332	YES	19881	Pendred_syndrome|Rare_genetic_deafness|SLC26A4-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:C5680250,Orphanet:96210|.|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely 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	2969.33	36	chr7	107689054	.	T	C	2969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.691;DP=864;ExcessHet=0;FS=7.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.072;SOR=0.382	GT:AD:DP:GQ:PL	0/1:98,119:217:99:2983,0,2553	18	0	1	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	0/1:37,30:67:99:625,0,842	9	1	9	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	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	0/1:69,67:136:99:1745,0,1873	0	14	5	0
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2115.83	8	chr7	140734797	.	G	GA	2115.83	.	AC=24;AF=0.857;AN=28;BaseQRankSum=0.385;DP=146;ExcessHet=0;FS=5.721;InbreedingCoeff=0.6727;MLEAC=29;MLEAF=1;MQ=60;MQRankSum=0;QD=29.45;ReadPosRankSum=1.65;SOR=2.099	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5:5:15:.:.:143,15,0:.	2	12	0	5
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	80542.9	290	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	80542.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.188;DP=6208;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=8;MLEAF=0.211;MQ=59.68;MQRankSum=-0.647;QD=26.63;ReadPosRankSum=-0.83;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,230:452:99:.:.:8279,0,8567:.	11	0	8	0
chr8	27803513	27803513	-	AATA	UTR3	ESCO2	NM_001017420:c.*75_*76insAATA	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	155	1138	181	47	1	276	0.107801	.	.	.	308805	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0191717	499	26028	rs139887923	0.1086	0.1090	0.1063	0.1108	0.3253	0.1081	0.1079	0.3205	0.3184	0.2373	0.0853	0.1738	0.3253	0.0804	0.1595	0.0904	0.1371	0.1882	0.1556	0.1562	0.1557	0.1555	0.3660	0.1540	0.1533	0.3522	0.3466	0.2532	0.0208	0.1276	0.1760	0.3660	0.0851	0.1667	0.0980	0.1654	0.1933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	982.69	7	chr8	27803513	.	T	TAATA	982.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.079;DP=250;ExcessHet=0.0107;FS=0;InbreedingCoeff=0.423;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=-0.763;SOR=0.566	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	14	2	3	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	858.52	3	chr8	27803549	.	T	TACAC	858.52	.	AC=7;AF=0.206;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	1|1:0,1:1:3:1|1:27803549_T_TACAC:45,3,0:27803549	13	3	1	2
chr8	54459698	54459698	-	CACCAG	exonic	SOX17	.	nonframeshift insertion	SOX17:NM_022454:exon2:c.948_949insCACCAG:p.H325_H326insQH	Vesicoureteral reflux 3, Autosomal dominant	0	221	5	0	0	5	0.0111857	.	.	.	904080	SOX17-related_disorder|Chronic_kidney_disease|not_provided	.|Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0092	.	0.0075	0.0077	0.0043	0	0	0.0104	0.0076	0.0066	0.0004226	11	26028	rs564144826	0.0115	0.0112	0.0117	0.0113	0.0133	0.0114	0.0113	0.0131	0.0131	0.0015	0.0026	0.0014	0.0005	0.0079	0.0047	0.0133	0.0101	0.0065	0.0074	0.0074	0.0078	0.0071	0.0121	0.0071	0.0069	0.0114	0.0111	0.0023	0.0033	0.0036	0.0023	0.0006	0.0090	0	0.0121	0.0095	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1530.29	33	chr8	54459698	.	A	ACACCAG	1530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=-0.396;SOR=0.767	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1544,0,1344	18	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2809.33	34	chr8	132941380	.	C	T	2809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=863;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=2.81;SOR=0.594	GT:AD:DP:GQ:PL	0/1:100,121:221:99:2823,0,2271	18	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S,TRAPPC9:NM_001374684:exon18:c.G2653A:p.G885S,TRAPPC9:NM_001160372:exon19:c.G2797A:p.G933S,TRAPPC9:NM_031466:exon19:c.G2797A:p.G933S,TRAPPC9:NM_001374682:exon20:c.G2818A:p.G940S	Mental retardation, autosomal recessive 13, Autosomal recessive	4	1463	53	2	0	57	0.0191083	.	.	.	136075	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	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	0.021368	0.000000	0.010638	0.017483	0.000000	0.064103	0.016529	0.053571	0.05263	5850.83	41	chr8	139988739	.	C	T	5850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.8;DP=1228;ExcessHet=0.119;FS=0.374;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.89;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,105:193:99:0|1:139988737_A_G:2945,0,2165:139988737	17	0	2	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.05263	4296.83	33	chr9	894044	.	A	G	4296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.457;DP=926;ExcessHet=0.119;FS=1.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.25;SOR=0.797	GT:AD:DP:GQ:PL	0/1:71,100:171:99:2488,0,1780	17	0	2	0
chr9	2039777	2039797	CAGCAGCAGCAGCAGCAGCAG	-	exonic	SMARCA2	.	nonframeshift deletion	SMARCA2:NM_001289396:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_001289397:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_003070:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_139045:exon4:c.667_687del:p.Q232_Q238del	Nicolaides-Baraitser syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579690	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333821975	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	0.0002	0.0003	0	0	0.0002	0.0016	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	0	0	0.0002	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7911.62	33	chr9	2039776	.	ACAGCAGCAGCAGCAGCAGCAG	A	7911.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=982;ExcessHet=4.0268;FS=2.482;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.986;SOR=0.515	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1821,0,951	18	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	24626.0	31	chr9	2622146	.	ACGGCGGCGG	A	24626.0	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	1/0:0,26:62:99:2552,1505,1678	10	4	5	0
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	24626.0	31	chr9	2622146	.	A	ACGG	24626.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	0/1:0,36:62:99:2552,1051,943	9	2	8	0
chr9	3937160	3937160	C	T	exonic	GLIS3	.	synonymous SNV	GLIS3:NM_152629:exon4:c.G1275A:p.R425R,GLIS3:NM_001042413:exon5:c.G1740A:p.R580R	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	902177	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|GLIS3-related_disorder	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0005	0	0.0005	0	0	0.0003	0	0.0018	0.0004204	65	154602	rs149545036	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.987e-05	0.0007	0.0002	0	1.872e-05	0.0031	0.0003	0.0007	0.0016	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0007	0.0005	7.223e-05	0	0.0007	0.0003	0.0002	0	0.0170	0.0004	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.05263	2236.83	34	chr9	3937160	.	C	T	2236.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.502;DP=782;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=3.09;SOR=0.734	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1281,0,1089	17	0	2	0
chr9	5922071	5922071	T	C	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.A3925G:p.S1309G	.	429	1080	13	0	0	13	0.00598251	.	.	.	2361867	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.00237627781726	0.0010	0.000798722	0.0013	0.0001	0.0008	0	0.0003	0.0017	0.0022	0.0019	0.0012548	194	154602	rs151185112	0.0012	0.0012	0.0011	0.0013	0.0095	0.0011	0.0011	0.0075	0.0068	0.0005	0.0008	0.0024	2.519e-05	0.0004	0.0095	0.0012	0.0014	0.0022	0.0012	0.0012	0.0012	0.0011	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0011	0.0020	0	0.0005	0.0068	0.0017	0.0038	0.0029	0.228	0.18434	T	0.09	0.40586	T	0.001	0.07471	B	0.004	0.10090	B	0.034346	0.24781	N	0.364204	0.999814	0.21449	N	0	0.06538	N	.	.	.	-0.23	0.11008	N	0.122	0.11340	-1.0451	0.15796	T	0.064	0.26349	T	9	0.00823465	0.00187	T	0.002376	0.04618	T	0.016	0.02506	.	.	0.110078149338	0.10416	0.17518584630704787	0.17437	.	.	0.284916877747	0.08187	T	0.018169	0.14695	T	-0.501657	0.00560	T	-0.500156	0.22331	T	0.00261522291644604	0.00027	T	0.671933	0.28057	T	0.21175131	0.43508	0.065815784	0.13393	0.21175131	0.43508	0.065815784	0.13393	-4.558	0.31716	T	.	.	0.064	0.02733	B	.;.	.;.	1.667714	0.21262	15.12	0.9744485408584963	0.33997	0.88508	0.48468	D	AEFDGBI	.	.	.	-0.499270285281523	0.22105	1.177967	-0.383460786059493	0.25489	1.402083	0.996339373411868	0.34675	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.64	1.03	0.19161	1.785000	0.38315	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.343:0.0:0.657	8.651	0.33197	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.006098	0.007576	0.02632	4066.33	44	chr9	5922071	.	T	C	4066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.924;DP=1165;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.013;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,106:195:99:0|1:5922071_T_C:4080,0,3366:5922071	18	0	1	0
chr9	34489358	34489358	A	G	exonic	DNAI1	.	synonymous SNV	DNAI1:NM_001281428:exon5:c.A297G:p.Q99Q,DNAI1:NM_012144:exon5:c.A297G:p.Q99Q	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	229684	Primary_ciliary_dyskinesia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0185	0.0161741	0.0051	0.0534	0.0027	0	0	0.0004	0.0088	0.0001	0.0050452	780	154602	rs77344166	0.0020	0.0020	0.0022	0.0017	0.0598	0.0019	0.0019	0.0576	0.0567	0.0598	0.0041	0.0028	0	0	0.0095	0.0002	0.0051	0.0002	0.0163	0.0163	0.0164	0.0161	0.0546	0.0157	0.0155	0.0527	0.0520	0.0546	0	0.0097	0.0014	0	0	0.0170	0.0003	0.0132	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.016616	0.025253	0.032609	0.020468	0.000000	0.008621	0.003049	0.000000	0.02632	1201.33	34	chr9	34489358	.	A	G	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.268;DP=741;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.46;SOR=0.591	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1215,0,1298	18	0	1	0
chr9	74842233	74842233	G	A	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon4:c.C248T:p.T83M,TRPM6:NM_001177311:exon4:c.C248T:p.T83M,TRPM6:NM_017662:exon4:c.C263T:p.T88M	Hypomagnesemia 1, intestinal, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	319761	not_provided|Intestinal_hypomagnesemia_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0346019601583	.	0.000599042	0.0002	0.0002	8.637e-05	0.0001	0	1.498e-05	0	0.0010	0.0001617	25	154602	rs191344898	0.0001	0.0001	6.806e-05	0.0002	0.0014	0.0001	9.567e-05	0.0012	0.0011	0.0001	0.0001	3.826e-05	0.0001	0	0.0009	2.068e-05	9.934e-05	0.0014	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0007	0	0	0	0	4.413e-05	0	0.0012	0.165	0.28395	T	0.159	0.31527	T	0.005	0.26641	B	0.017	0.27321	B	0.017458	0.27721	N	0.430897	1	0.08975	N	1.09	0.27330	L	0.44	0.64630	T	-0.02	0.19720	N	0.168	0.18376	-1.0726	0.08851	T	0.085	0.33269	T	10	0.0072985888	0.00166	T	0.034602	0.55783	D	0.045	0.12272	.	.	0.082315109003	0.07666	0.22574980735011338	0.22489	0.259585898146	0.28516	0.205405071378	0.00631	T	0.213719	0.57511	T	-0.466675	0.00892	T	-0.488675	0.23531	T	0.00723972776904702	0.00083	T	0.727127	0.34152	T	0.019847149	0.00525	0.032687	0.02043	0.019847149	0.00525	0.032687	0.02043	-7.63	0.58520	D	0.14878849683184153	0.17351	0.072	0.04316	B	.;.;.;.	.;.;.;.	0.645543	0.10142	6.884	0.58459829034828004	0.05998	0.06677	0.12696	N	AEFI	0.106291	0.21211	N	-1.63975301187761	0.01079	0.04682587	-1.65975328644549	0.01326	0.0598512	9.83698233706978E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	-4.38	0.03371	0.102000	0.15108	-0.249000	0.10523	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.591000	0.31164	0.3046:0.0777:0.3004:0.3173	1.644	0.02592	648	0.63242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1337.33	41	chr9	74842233	.	G	A	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=863;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.092;SOR=0.569	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1351,0,1531	18	0	1	0
chr9	95101611	95101611	T	C	UTR3	FANCC	NM_000136:c.*96A>G;NM_001243743:c.*96A>G	.	.	Fanconi anemia, complementation group C, Autosomal recessive	87	1424	11	0	0	11	0.0038475	.	.	.	902557	Fanconi_anemia_complementation_group_C|not_provided	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0012031	186	154602	rs55687573	0.0091	0.0091	0.0090	0.0093	0.0105	0.0090	0.0089	0.0099	0.0097	0.0010	0.0022	0.0014	0	0.0277	0.0008	0.0093	0.0086	0.0105	0.0085	0.0085	0.0077	0.0093	0.0120	0.0081	0.0080	0.0113	0.0111	0.0012	0.0132	0.0019	0.0014	0.0004	0.0322	0	0.0120	0.0052	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	950.33	34	chr9	95101611	.	T	C	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.505;DP=681;ExcessHet=0;FS=2.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.12;ReadPosRankSum=-0.249;SOR=1.501	GT:AD:DP:GQ:PL	0/1:16,29:45:99:964,0,479	18	0	1	0
chr9	110800309	110800309	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.T671C:p.V224A,MUSK:NM_001166281:exon12:c.T1643C:p.V548A,MUSK:NM_001166280:exon13:c.T1673C:p.V558A,MUSK:NM_005592:exon14:c.T1931C:p.V644A	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1504	17	1	0	19	0.00627684	.	.	.	253279	not_provided|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|not_specified	MedGen:C3661900|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	0.0970055682466	0.0025	0.00179712	0.0028	0.0003	0.0010	0.0001	0.0021	0.0037	0.0024	0.0042	0.0026908	416	154602	rs41279055	0.0037	0.0037	0.0037	0.0036	0.0041	0.0036	0.0036	0.0040	0.0040	0.0003	0.0018	0.0016	0	0.0026	0.0040	0.0041	0.0032	0.0035	0.0027	0.0027	0.0024	0.0029	0.0046	0.0024	0.0024	0.0036	0.0035	0.0004	0	0.0032	0.0020	0	0.0027	0.0034	0.0040	0.0033	0.0046	0.002	0.72154	D	0.003	0.79402	D	0.373	0.34173	B	0.396	0.44364	B	0.000006	0.62929	D	0.063149	1	0.81001	D	1.435	0.35949	L	-1.7	0.83072	D	-3.71	0.70674	D	0.871	0.93018	-0.0676	0.80832	T	0.423	0.76763	T	10	0.057576776	0.06634	T	0.097006	0.76700	D	0.805	0.93660	.	.	0.849818709167	0.84837	0.6924260660013182	0.69182	0.756905098849	0.64057	0.796596288681	0.81446	T	0.481056	0.80978	T	0.00689684	0.52601	T	0.236986	0.85005	D	0.0360591295762086	0.02992	T	0.769823	0.39947	T	0.57534623	0.71354	0.55415136	0.74215	0.58510226	0.71887	0.64054227	0.79001	-10.283	0.75589	D	0.4229103633456847	0.51139	0.683	0.73000	P	.;.;.;.	.;.;.;.	3.738890	0.53529	23.4	0.99784028026709548	0.87043	0.98923	0.88681	D	AEFGBI	0.929285	0.91480	D	0.216838402520189	0.52015	3.378498	0.2925395247629	0.55102	3.673715	0.999999994025041	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.951000	0.87297	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.0:0.0:1.0	14.301	0.65900	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1988.33	40	chr9	110800309	.	T	C	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=869;ExcessHet=0;FS=7.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.224;SOR=1.246	GT:AD:DP:GQ:PL	0/1:86,75:161:99:2002,0,2243	18	0	1	0
chr9	131069664	131069664	C	T	intronic	LAMC3	.	.	.	Cortical malformations, occipital, Autosomal recessive	5	1503	13	1	0	15	0.00496524	0	0	.	191916	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.00219649	0.0003	0	0	0	0	0.0006	0	9.775e-05	0.0008667	134	154602	rs199535979	0.0047	0.0047	0.0046	0.0049	0.0058	0.0046	0.0046	0.0052	0.0051	0.0007	0.0019	0.0031	0	0.0008	0.0058	0.0053	0.0052	0.0048	0.0035	0.0035	0.0035	0.0034	0.0066	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0037	0.0017	0	0.0002	0.0034	0.0055	0.0057	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2074.33	35	chr9	131069664	.	C	T	2074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=834;ExcessHet=0;FS=1.355;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=2.04;SOR=0.832	GT:AD:DP:GQ:PL	0/1:61,78:139:99:2088,0,1469	18	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q	Cortical malformations, occipital, Autosomal recessive	7	1498	15	2	0	19	0.00630182	.	.	.	192120	not_specified|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	385	0.83500	.	.	.	.	.	.	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	0.003535	0.000000	0.004076	0.002959	0.000000	0.000000	0.003049	0.007576	0.02632	545.33	36	chr9	131072668	.	G	C	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=843;ExcessHet=0;FS=8.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-2.237;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,23:68:99:0|1:131072662_A_G:559,0,1129:131072662	18	0	1	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K	Cortical malformations, occipital, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	192121	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	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	0.003528	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	423.33	36	chr9	131072797	.	G	A	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.622;DP=760;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-0.265;SOR=0.279	GT:AD:DP:GQ:PL	0/1:36,21:57:99:437,0,1049	18	0	1	0
chr9	131085585	131085585	C	T	exonic	LAMC3	.	synonymous SNV	LAMC3:NM_006059:exon25:c.C4092T:p.S1364S	Cortical malformations, occipital, Autosomal recessive	1	1501	20	0	0	20	0.00661813	.	.	.	193045	not_provided|LAMC3-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0038	0.00219649	0.0035	0.0005	0.0024	0	0.0008	0.0045	0.0033	0.0049	0.0035899	555	154602	rs141724499	0.0056	0.0056	0.0055	0.0057	0.0064	0.0055	0.0055	0.0062	0.0062	0.0007	0.0023	0.0034	2.519e-05	0.0007	0.0047	0.0064	0.0063	0.0053	0.0037	0.0037	0.0038	0.0036	0.0070	0.0034	0.0033	0.0054	0.0052	0.0012	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0059	0.0057	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	994.33	37	chr9	131085585	.	C	T	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=720;ExcessHet=0;FS=0.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.546;SOR=0.867	GT:AD:DP:GQ:PL	0/1:50,39:89:99:1008,0,1206	18	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	8852.51	27	chr9	132897613	.	GA	G	8852.51	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.341;DP=2102;ExcessHet=13.8672;FS=0.626;InbreedingCoeff=-0.52;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.037;SOR=0.771	GT:AD:DP:GQ:PL	1/0:5,28:59:51:740,141,228	4	0	15	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	0/1:22,19:41:99:.:.:456,0,640:.	1	5	13	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	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	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.2632	14876.2	150	chr10	43114671	.	G	A	14876.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.55;DP=1538;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.248;SOR=0.681	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1577,0,1711	9	0	10	0
chr10	99831784	99831784	G	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon22:c.G3057C:p.Q1019H	Dubin-Johnson syndrome, Autosomal recessive	1	1506	14	1	0	16	0.00528402	.	.	.	583351	ABCC2-related_disorder|not_provided|Dubin-Johnson_syndrome	.|MedGen:C3661900|MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	0.0587939584899	0.0005	0.000199681	0.0006	0	8.64e-05	0	0	0.0006	0	0.0016	0.0005045	78	154602	rs144521346	0.0003	0.0003	0.0003	0.0004	0.0052	0.0003	0.0003	0.0037	0.0032	0.0002	0.0001	0.0034	0	0	0.0052	0.0002	0.0009	0.0013	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0.0032	0	0	0	0.0003	0	0.0008	0.393	0.10730	T	0.161	0.31326	T	0.025	0.19245	B	0.076	0.28435	B	0.070371	0.21544	N	0.527625	0.98988	0.41043	D	1.5	0.37844	L	-2.54	0.89496	D	-0.27	0.11366	N	0.154	0.15888	-0.1731	0.78352	T	0.538	0.82931	D	10	0.014214784	0.00299	T	0.058794	0.67442	D	0.357	0.67782	0.456	0.52102	0.883164231789	0.88201	0.32830549651836577	0.32743	0.042648702244	0.04603	0.37381246686	0.21377	T	0.107564	0.41987	T	-0.243642	0.14888	T	-0.168303	0.57599	T	0.027423528729687	0.01605	T	0.705929	0.31637	T	0.19026788	0.40604	0.19523627	0.43190	0.19026788	0.40604	0.19523627	0.43189	-7.524	0.57779	D	0.3001190668525124	0.39742	0.292	0.52335	B	.;.	.;.	3.014754	0.40329	21.1	0.5748081435542477	0.05779	0.94190	0.60386	D	AEFBI	0.640369	0.61809	D	-0.146798566187133	0.35372	2.030803	-0.0360763199352493	0.38099	2.239832	0.999514425658563	0.40117	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.63	0.40741	2.231000	0.42654	5.112000	0.47521	0.616000	0.49467	0.996000	0.39380	1.000000	0.68203	0.398000	0.26737	0.1342:0.0:0.7327:0.1331	8.019	0.29556	706	0.57215	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1945.33	37	chr10	99831784	.	G	C	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=868;ExcessHet=0;FS=8.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.78;SOR=0.49	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1959,0,2185	18	0	1	0
chr10	119670007	119670007	G	A	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.G337A:p.V113I	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	397399	Dilated_cardiomyopathy_1HH|Cardiovascular_phenotype|Myofibrillar_myopathy_6|not_specified	MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.104	0.0193910934846	.	.	3.298e-05	0	0	0	0	6.003e-05	0	0	2.59e-05	4	154602	rs781093275	1.368e-05	1.368e-05	9.528e-06	1.788e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.259e-05	1.656e-05	2.319e-05	1.969e-05	1.969e-05	2.57e-05	1.342e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.039	0.51112	D	0.039	0.21116	B	0.016	0.17743	B	0.033121	0.24940	N	0.477459	1	0.08975	N	1.1	0.28011	L	-0.77	0.73739	T	-0.37	0.13226	N	0.115	0.10340	-0.8618	0.51133	T	0.239	0.60679	T	10	0.106381774	0.19709	T	0.019391	0.41739	T	0.104	0.29647	0.289	0.24921	0.725845606683	0.72341	0.21779596080686475	0.21695	0.101249323043	0.11452	0.347391277552	0.17538	T	0.101615	0.40853	T	-0.229966	0.16653	T	-0.437656	0.29072	T	0.125065848231316	0.14918	T	0.644736	0.27667	T	0.055855006	0.10912	0.075352594	0.16579	0.055855006	0.10912	0.075352594	0.16579	-4.506	0.30967	T	0.14752158351094835	0.17102	0.077	0.16451	B	.;.	.;.	1.263330	0.16614	12.65	0.99420966150860546	0.63790	0.26810	0.23099	N	AEFBCI	0.153135	0.27795	N	-0.576982431136245	0.19645	1.029786	-0.505954441822678	0.21991	1.192288	0.999968508982123	0.48965	0.833774	0.99917	0	0.653731	0.59785	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.49	4.52	0.54797	0.408000	0.20787	1.075000	0.23839	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.279000	0.23992	0.0:0.0:0.8015:0.1985	15.505	0.75464	898	0.25240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1438.33	33	chr10	119670007	.	G	A	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.29;SOR=0.748	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1452,0,1108	18	0	1	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	1/1:0,34:34:99:928,102,0	0	16	3	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	1/1:0,144:144:99:.:.:4425,432,0:.	2	13	4	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	13563.8	26	chr11	6616508	.	AT	A	13563.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.292;DP=902;ExcessHet=0;FS=3.629;InbreedingCoeff=nan;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=0.273;SOR=0.425	GT:AD:DP:GQ:PL	0/1:4,9:39:90:735,406,373	11	0	8	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	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	1/1:0,40:40:99:1427,120,0	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	1/1:0,8:8:24:244,24,0	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	1/1:0,29:29:87:1096,87,0	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	1/1:1,48:49:99:1533,136,0	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	1/1:0,60:60:99:1829,179,0	3	12	4	0
chr11	17645578	17645578	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon54:c.C8512T:p.R2838C,OTOG:NM_001292063:exon55:c.C8476T:p.R2826C	Deafness, autosomal recessive 18B, Autosomal recessive	8	1501	13	0	0	13	0.00431177	.	.	.	215430	OTOG-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.177	.	.	0.000599042	0.0021	0	0.0035	0	0.0022	0.0040	0.0119	0.0009	0.0005563	86	154602	rs191662816	0.0026	0.0025	0.0027	0.0025	0.0051	0.0025	0.0025	0.0036	0.0032	0.0003	0.0009	0.0052	0.0006	0.0017	0.0051	0.0028	0.0021	0.0024	0.0021	0.0021	0.0022	0.0020	0.0031	0.0019	0.0018	0.0028	0.0027	0.0003	0.0318	0.0006	0.0043	0.0002	0.0023	0	0.0031	0.0019	0.0025	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.007406	0.31413	U	0.113154	0.993055	0.41822	D	1.585	0.39878	L	2.29	0.17113	T	-6.23	0.90490	D	0.438	0.47672	-1.1392	0.01388	T	0.038	0.16505	T	8	0.008724064	0.00198	T	.	.	.	0.177	0.44549	.	.	0.519351293798	0.51580	0.5392584237348957	0.53850	.	.	0.621142864227	0.55890	T	0.366961	0.73212	T	-0.383135	0.02976	T	-0.326488	0.41858	T	0.0740020094112973	0.09202	T	0.960654	0.85651	D	0.44558603	0.63761	0.3040868	0.56438	0.47643542	0.65684	0.3320875	0.59060	-9.597	0.71461	D	.	.	0.831	0.79479	P	.;.	.;.	5.740975	0.93331	33	0.9989847500648793	0.97124	0.93611	0.58692	D	AEFDBI	0.788657	0.71808	D	0.288032255894726	0.55541	3.718164	0.351293237660751	0.58585	4.029976	0.916407093892662	0.26512	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.09	3.0	0.33773	4.918000	0.63075	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3203:0.6797:0.0:0.0	11.458	0.49437	686	0.59327	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2334.81	37	chr11	17645578	.	C	T	2334.81	.	AC=2;AF=0.053;AN=38;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.84;SOR=2.269	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2362,207,0	18	1	0	0
chr11	66521290	66521290	C	T	exonic	BBS1	.	synonymous SNV	BBS1:NM_024649:exon9:c.C744T:p.P248P	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	429277	Bardet-Biedl_syndrome_1|not_specified|Bardet-Biedl_syndrome	MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.943e-05	0	0.0003	0	0	2.998e-05	0	0	5.17e-05	8	154602	rs528073027	5.609e-05	5.609e-05	6.126e-05	5.088e-05	0.0002	4.61e-05	4.236e-05	0.0001	0.0001	0	0.0002	0	0	1.872e-05	0	6.115e-05	3.312e-05	0	7.222e-05	7.218e-05	6.424e-05	8.055e-05	0.0003	3.968e-05	3.125e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	8.819e-05	0	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	.	.	.	.	.	.	.	.	0.02632	3157.33	34	chr11	66521290	.	C	T	3157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.805;DP=935;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.016;SOR=0.692	GT:AD:DP:GQ:PL	0/1:119,129:248:99:3171,0,2743	18	0	1	0
chr11	77204105	77204105	T	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon39:c.T5356A:p.S1786T,MYO7A:NM_001127180:exon39:c.T5242A:p.S1748T,MYO7A:NM_001369365:exon40:c.T5209A:p.S1737T	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	175518	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.281669031188	8e-05	0.000199681	0.0002	0.0002	0	0	0	0.0003	0	0	0.0001035	16	154602	rs374576916	7.659e-05	7.661e-05	5.756e-05	9.588e-05	0.0021	6.479e-05	6.056e-05	0.0012	0.0009	0.0005	0.0001	0	0	0	0.0021	6.056e-05	0.0001	2.396e-05	0.0001	0.0001	0.0001	9.403e-05	0.0001	7.089e-05	5.746e-05	6.807e-05	5.09e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.181	0.21968	T	0.143	0.33330	T	0.002	0.09854	B	0.008	0.13708	B	0.000023	0.55875	D	0.160766	0.999999	0.58761	D	2.015	0.55033	M	-2.31	0.87989	D	-2.42	0.53096	N	0.678	0.71854	-0.1658	0.78530	T	0.549	0.83455	D	10	0.27296865	0.44844	T	0.281669	0.90253	D	0.373	0.69188	.	.	0.90710961093	0.90618	0.5090445675568805	0.50826	0.104901053981	0.11863	0.702617645264	0.67522	T	0.43352	0.78092	T	-0.0957659	0.37124	T	-0.138669	0.60232	T	0.0662984603471042	0.08122	T	0.911109	0.69109	D	0.487829	0.66373	0.23346925	0.48537	0.49626398	0.66876	0.2590678	0.51648	-3.959	0.27712	T	0.1588398418633976	0.19274	0.208	0.45942	B	.;.;.;.	.;.;.;.	3.275482	0.44858	22.0	0.96509559955282387	0.30072	0.96055	0.67329	D	AEFDBI	0.839089	0.75653	D	-0.00985272061486092	0.41408	2.47627	0.0921631078912919	0.44154	2.702657	0.614528018772539	0.21832	0.553676	0.25195	0	0.610034	0.51514	0	0.603688	0.36954	0	0.620846	0.47308	0	.	.	4.69	3.56	0.39892	7.573000	0.81745	6.168000	0.54445	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.081:0.0:0.919	10.033	0.41282	675	0.60470	MyTH4 domain|MyTH4 domain;.;.;MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.009511	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1648.33	42	chr11	77204105	.	T	A	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=772;ExcessHet=0;FS=3.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.821;SOR=0.992	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1662,0,1461	18	0	1	0
chr11	88294084	88294084	G	A	exonic	CTSC	.	synonymous SNV	CTSC:NM_001814:exon7:c.C1314T:p.Y438Y	Haim-Munk syndrome, Autosomal recessive;Papillon-Lefevre syndrome, Autosomal recessive;Periodontitis 1, juvenile, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	322293	Periodontitis,_aggressive_1|Haim-Munk_syndrome|Papillon-Lefèvre_syndrome	MONDO:MONDO:0008226,MedGen:C4551681,OMIM:170650|MONDO:MONDO:0009491,MedGen:C1855627,OMIM:245010,Orphanet:2342|MONDO:MONDO:0009490,MedGen:C0030360,OMIM:245000,Orphanet:678	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0007	0.0004	0	0	0	0.0009	0	0.0010	0.0005757	89	154602	rs143736590	0.0007	0.0007	0.0007	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0002	8.951e-05	0	0	7.491e-05	0.0010	0.0008	0.0010	0.0011	0.0006	0.0006	0.0006	0.0006	0.0015	0.0005	0.0004	0.0008	0.0008	0.0002	0	6.542e-05	0	0	0	0	0.0010	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	4322.33	38	chr11	88294084	.	G	A	4322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=1237;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.341;SOR=0.707	GT:AD:DP:GQ:PL	0/1:192,175:367:99:4336,0,4882	18	0	1	0
chr11	134153139	134153139	C	T	splicing	NCAPD3	NM_015261:exon34:c.4388+1G>A;NM_001372069:exon33:c.3974+1G>A;NM_001372070:exon36:c.3974+1G>A;NM_001372068:exon34:c.4388+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.948	YES	3224899	Microcephaly_22,_primary,_autosomal_recessive	MONDO:MONDO:0054805,MedGen:C4693834,OMIM:617984	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164631127	4.106e-06	4.104e-06	6.808e-06	1.375e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326645	0.84935	D	0.231427	0.84737	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.021254	0.83447	28.0	0.99188025479285136	0.54877	0.83033	0.42186	D	AEFBCI	.	.	.	1.02883194925529	0.96563	14.85152	0.864004524301471	0.93806	12.294	0.998500584792933	0.37090	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.240291	0.04720	0	0.976461	0.79721	5.77	5.77	0.91077	3.563000	0.53529	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.338000	0.25386	0.0:0.9265:0.0:0.0735	13.207	0.59229	684	0.59539	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	36	chr11	134153139	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=795;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.29;SOR=0.916	GT:AD:DP:GQ:PL	0/1:93,70:163:99:1782,0,2437	18	0	1	0
chr12	2611965	2611965	C	A	exonic	CACNA1C	.	synonymous SNV	CACNA1C:NM_000719:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129829:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129830:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129831:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129833:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129834:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129835:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129836:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129837:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129838:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129839:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129840:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129841:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129842:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129843:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129844:exon29:c.C3771A:p.G1257G,CACNA1C:NM_001129846:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167623:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167624:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167625:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129827:exon30:c.C3840A:p.G1280G,CACNA1C:NM_001129832:exon30:c.C3840A:p.G1280G,CACNA1C:NM_199460:exon30:c.C3840A:p.G1280G	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1489	31	2	0	35	0.0116163	.	.	.	99310	Cardiovascular_phenotype|CACNA1C-related_disorder|not_specified|not_provided|Long_QT_syndrome	MedGen:CN230736|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.000399361	0.0023	0.0003	0.0033	0.0001	0	0.0024	0.0066	0.0046	0.0021345	330	154602	rs201258230	0.0016	0.0016	0.0016	0.0017	0.0052	0.0016	0.0016	0.0041	0.0040	0.0002	0.0029	0.0023	5.038e-05	5.617e-05	0.0052	0.0015	0.0025	0.0045	0.0013	0.0013	0.0014	0.0012	0.0033	0.0012	0.0011	0.0026	0.0023	0.0002	0	0.0033	0.0060	0	9.423e-05	0.0034	0.0014	0.0066	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	2296.33	74	chr12	2611965	.	C	A	2296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.901;DP=1026;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.371;SOR=0.539	GT:AD:DP:GQ:PL	0/1:85,98:183:99:2310,0,2252	18	0	1	0
chr12	5044717	5044717	C	T	exonic	KCNA5	.	synonymous SNV	KCNA5:NM_002234:exon1:c.C570T:p.N190N	Atrial fibrillation, familial, 7, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	463149	Atrial_fibrillation,_familial,_7|not_provided|KCNA5-related_disorder|not_specified	MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0045	0.000599042	0.0035	0.0007	0.0012	0	0.0103	0.0050	0.0044	0.0001	0.0037128	574	154602	rs12720444	0.0049	0.0049	0.0051	0.0047	0.0057	0.0048	0.0047	0.0056	0.0056	0.0008	0.0015	0.0030	0	0.0073	0.0009	0.0057	0.0031	0.0001	0.0035	0.0035	0.0036	0.0034	0.0051	0.0032	0.0031	0.0046	0.0045	0.0011	0	0.0024	0.0012	0	0.0083	0	0.0051	0.0038	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	0.02632	2135.33	33	chr12	5044717	.	C	T	2135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.29;DP=789;ExcessHet=0;FS=6.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.357;SOR=0.337	GT:AD:DP:GQ:PL	0/1:67,68:135:99:2149,0,1765	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	0/1:37,16:53:99:249,0,1001	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	0/1:0,3:56:99:1550,1372,1400	14	3	2	0
chr12	7190513	7190602	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	1	1242	33	243	3	522	0.172827	.	.	.	1101393	not_provided|PEX5-related_disorder|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|.|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0.0004	0.0041	0.0005	0.0005	0.0014	0.0011	3.84e-05	1	26028	.	0.0006	0.0006	0.0005	0.0006	0.0065	0.0005	0.0005	0.0059	0.0056	0.0003	0.0007	7.67e-05	0.0065	0.0007	0.0004	0.0003	0.0010	0.0009	0.0018	0.0013	0.0019	0.0018	0.0130	0.0016	0.0015	0.0098	0.0087	0.0005	0	0.0034	0	0.0130	0.0008	0.0090	0.0017	0.0016	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	0/1:22,36:58:99:383,0,870	18	0	1	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	0/1:25,10:39:99:194,0,528	2	0	17	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	0/1:10,9:19:99:277,0,323	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	1/1:0,69:69:99:2131,207,0	1	12	6	0
chr12	112419099	112419099	G	A	UTR5	PTPN11	NM_001330437:c.-13G>A;NM_080601:c.-13G>A;NM_001374625:c.-13G>A;NM_002834:c.-13G>A	.	.	LEOPARD syndrome 1, Autosomal dominant;Leukemia, juvenile myelomonocytic, somatic;Metachondromatosis, Autosomal dominant;Noonan syndrome 1, Autosomal dominant	24	1496	2	0	0	2	0.000668003	.	.	.	503884	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	7.429e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs760374212	3.117e-05	2.941e-05	3.005e-05	3.231e-05	0.0002	2.348e-05	2.087e-05	0.0002	0.0001	0	0	0	0.0001	0	0.0002	1.49e-05	3.493e-05	0.0002	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	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	.	.	.	.	.	.	.	.	0.02632	77.38	3	chr12	112419099	.	G	A	77.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=361;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=2.69;SOR=0.85	GT:AD:DP:GQ:PL	0/1:12,5:17:91:91,0,304	18	0	1	0
chr12	112486531	112486531	C	T	exonic	PTPN11	.	synonymous SNV	PTPN11:NM_001330437:exon11:c.C1293T:p.G431G,PTPN11:NM_001374625:exon11:c.C1278T:p.G426G,PTPN11:NM_002834:exon11:c.C1281T:p.G427G,PTPN11:NM_080601:exon11:c.C1281T:p.G427G	LEOPARD syndrome 1, Autosomal dominant;Leukemia, juvenile myelomonocytic, somatic;Metachondromatosis, Autosomal dominant;Noonan syndrome 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	503898	not_specified|Noonan_syndrome_and_Noonan-related_syndrome|not_provided|Cardiovascular_phenotype|RASopathy	MedGen:CN169374|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.953e-05	0	0	0	0	3.003e-05	0	0.0002	3.88e-05	6	154602	rs753173299	2.121e-05	2.121e-05	1.633e-05	2.613e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0001	0	0	0	2.519e-05	0	0.0003	3.597e-06	4.968e-05	0.0002	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.02632	1698.33	33	chr12	112486531	.	C	T	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.425;DP=751;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.37;SOR=0.577	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1712,0,1264	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	0/1:47,51:98:99:1483,0,1206	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	0/1:74,77:151:99:2027,0,1783	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|1:8,15:23:99:0|1:132730334_CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT_C:593,0,291:132730334	5	4	10	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	188	423	406	438	67	1349	0.602444	.	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	12463.5	12	chr13	23320613	.	TTG	T	12463.5	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.299;DP=622;ExcessHet=3.4183;FS=2.118;InbreedingCoeff=-0.1604;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=26.92;ReadPosRankSum=1.35;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:29:0|1:23320613_TTG_T:29,0,617:23320613	15	0	4	0
chr13	32338400	32338400	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A4045G:p.I1349V	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	536116	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Breast-ovarian_cancer,_familial,_susceptibility_to,_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0768269955196	.	.	8.33e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs780544697	2.071e-06	2.052e-06	1.372e-06	2.779e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.026e-07	0	1.213e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.09776	T	0.982	0.02411	T	.	.	.	.	.	.	0.439464	0.12645	N	0.726429	1	0.08975	N	.	.	.	5.89	0.00629	T	-0.48	0.15379	N	0.393	0.46274	-0.9340	0.43545	T	0.002	0.00676	T	10	0.09799382	0.17686	T	0.076827	0.72626	D	0.266	0.57999	0.332	0.31843	0.580672568948	0.57738	0.05314122391390812	0.05256	0.0201121265363	0.01973	0.256766498089	0.04514	T	.	.	.	-0.171388	0.25025	T	-0.483963	0.24026	T	0.0265884014678503	0.01487	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.11461	B	.;.	.;.	-0.411713	0.02170	0.212	0.37857877597224626	0.02519	0.04034	0.09473	N	AEFDBI	0.031477	0.03376	N	-1.16421456180004	0.05550	0.2532972	-1.19266075468866	0.06032	0.2891294	0.999074294873228	0.38370	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.74	-1.97	0.07091	-0.181000	0.09734	-0.402000	0.09404	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.774000	0.36673	0.3453:0.0:0.6547:0.0	10.703	0.45136	748	0.52143	.;.	.	.	.	.	.	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	2059.33	66	chr13	32338400	.	A	G	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.562;DP=1484;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.556;SOR=0.422	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2073,0,1831	18	0	1	0
chr13	37009283	37009283	G	C	exonic	EXOSC8	.	nonsynonymous SNV	EXOSC8:NM_181503:exon11:c.G815C:p.S272T	Pontocerebellar hypoplasia, type 1C, Autosomal recessive	440	1067	13	2	0	17	0.0079033	.	.	YES	167468	not_specified|not_provided|Pontocerebellar_hypoplasia,_type_1C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081,Orphanet:2254	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.681	0.156111261184	0.0040	0.00219649	0.0040	0.0013	0.0020	0	0.0018	0.0059	0.0037	0.0031	0.003868	598	154602	rs36027220	0.0058	0.0058	0.0057	0.0058	0.0068	0.0057	0.0056	0.0067	0.0066	0.0009	0.0019	0.0008	2.528e-05	0.0031	0.0063	0.0068	0.0048	0.0024	0.0039	0.0039	0.0045	0.0034	0.0072	0.0037	0.0036	0.0067	0.0065	0.0011	0	0.0016	0.0009	0	0.0013	0.0068	0.0072	0.0024	0.0033	0.346	0.91255	T	0.514	0.92824	T	0.094	0.25382	B	0.011	0.15521	B	0.000000	0.84330	D	0.035092	1	0.81001	D	1.98	0.53716	M	0.94	0.43672	T	-0.49	0.25551	N	0.567	0.59053	-1.0172	0.24625	T	0.087	0.33857	T	10	0.005367756	0.00118	T	0.156111	0.83693	D	0.681	0.88300	.	.	0.536942225882	0.53344	0.22700345347248063	0.22615	0.148798595494	0.16780	0.54484796524	0.45130	T	0.044274	0.26764	T	-0.359845	0.04138	T	-0.279281	0.46878	T	0.113110247990743	0.13743	T	0.720328	0.33319	T	0.21581115	0.44023	0.30121014	0.56154	0.23845856	0.46724	0.29111928	0.55135	-3.871	0.21869	T	.	.	0.08	0.16626	B	.;.	.;.	3.093933	0.41671	21.4	0.89077671991549434	0.18492	0.98363	0.82018	D	AEFGBCI	0.905304	0.85667	D	0.296394383639791	0.55967	3.760755	0.446472023965022	0.64489	4.705468	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.85	5.85	0.93663	9.016000	0.93163	11.878000	0.98757	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.170	0.98157	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.002717	0.002924	0.000000	0.043103	0.006098	0.003788	0.02632	801.33	33	chr13	37009283	.	G	C	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=686;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.278;SOR=1.104	GT:AD:DP:GQ:PL	0/1:23,31:54:99:815,0,493	18	0	1	0
chr13	39750942	39750942	A	G	intronic	COG6	.	.	.	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive	6	1501	14	1	0	16	0.00530152	0.9970	0.838	.	730919	COG6-congenital_disorder_of_glycosylation|Hypohidrosis-enamel_hypoplasia-palmoplantar_keratoderma-intellectual_disability_syndrome	MONDO:MONDO:0013810,MedGen:C3553230,OMIM:614576,Orphanet:464443|MONDO:MONDO:0014131,MedGen:C3809160,OMIM:615328,Orphanet:363523	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0009	0	0.0002	0	0	0.0003	0.0011	0.0052	0.0006986	108	154602	rs375878630	0.0005	0.0005	0.0004	0.0006	0.0045	0.0005	0.0004	0.0042	0.0040	8.974e-05	4.48e-05	0.0014	0	0	0.0024	0.0002	0.0005	0.0045	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.544e-05	0.0006	0	0	0.0068	0.0003	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	759.33	34	chr13	39750942	.	A	G	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.254;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.624;SOR=0.73	GT:AD:DP:GQ:PL	0/1:20,27:47:99:773,0,602	18	0	1	0
chr13	72965328	72965328	A	G	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon15:c.A1888G:p.I630V,PIBF1:NM_001349655:exon16:c.A1975G:p.I659V	.	433	954	120	15	0	150	0.0728863	.	.	.	1625324	not_provided|Joubert_syndrome_33	MedGen:C3661900|MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0211	0.0227636	0.0294	0.0043	0.0154	0.0001	0.0150	0.0297	0.0410	0.0741	0.0284214	4394	154602	rs11544631	0.0299	0.0293	0.0279	0.0320	0.0801	0.0297	0.0296	0.0785	0.0778	0.0052	0.0181	0.0534	0.0002	0.0138	0.0725	0.0281	0.0323	0.0801	0.0217	0.0218	0.0217	0.0218	0.0670	0.0211	0.0209	0.0610	0.0586	0.0056	0.1121	0.0216	0.0473	0.0006	0.0153	0.0782	0.0282	0.0241	0.0670	0.17	0.22833	T	0.298	0.42976	T	0.876	0.48154	P	0.927	0.66185	D	0.000019	0.62929	D	0.118519	0.99992	0.51308	D	1.52	0.38360	L	2.22	0.18248	T	-0.52	0.16187	N	0.098	0.18239	-1.1678	0.00583	T	0.029	0.12278	T	10	0.002918452	0.00047	T	.	.	.	0.072	0.21020	.	.	.	.	0.13770529066343418	0.13694	0.0423253043462	0.04561	0.45378190279	0.32461	T	0.015357	0.12895	T	-0.610455	0.00126	T	-0.590473	0.13625	T	0.0385543579617264	0.03430	T	0.626037	0.24205	T	0.06711497	0.14505	0.07295199	0.15797	0.07176528	0.15913	0.07295199	0.15796	-4.3	0.28177	T	0.1953686098761516	0.25771	0.094	0.15070	B	.;.;.	.;.;.	2.022457	0.25704	16.86	0.99822133550549286	0.90502	0.92735	0.56418	D	AEFI	0.406743	0.47911	N	0.42687146605143	0.62904	4.514306	0.455079957116064	0.65044	4.774146	0.99992945366436	0.46280	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	3.575000	0.53614	2.945000	0.35685	0.691000	0.84096	1.000000	0.71638	0.974000	0.29927	0.999000	0.91618	1.0:0.0:0.0:0.0	14.731	0.68999	975	0.05339	.;.;.	.	.	.	.	rs11544631	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	0.077543	0.035354	0.077446	0.067251	0.250000	0.103448	0.088415	0.087121	0.1579	6657.38	36	chr13	72965328	.	A	G	6657.38	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.52;DP=1092;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.855;SOR=0.674	GT:AD:DP:GQ:PL	0/1:78,41:119:99:872,0,1908	14	1	4	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	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	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	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	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3421	55470.2	357	chr13	113118845	.	G	A	55470.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=2.99;DP=3072;ExcessHet=0.0278;FS=0;InbreedingCoeff=0.4154;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.155;SOR=0.711	GT:AD:DP:GQ:PL	0/1:169,125:294:99:3090,0,3959	10	4	5	0
chr14	76500745	76500745	G	A	UTR3	ESRRB	NM_004452:c.*24G>A;NM_001379180:c.*2287G>A	.	.	Deafness, autosomal recessive 35, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	321453	Autosomal_recessive_nonsyndromic_hearing_loss_35|not_provided	MONDO:MONDO:0012060,MedGen:C1837857,OMIM:608565,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	9.7e-05	0.00279553	0.0025	0.0001	0.0002	0	0	0.0002	0.0022	0.0171	0.0021216	328	154602	rs372618689	0.0012	0.0012	0.0006	0.0017	0.0179	0.0011	0.0011	0.0171	0.0168	5.976e-05	0.0001	0.0004	5.038e-05	0	0.0035	5.938e-05	0.0009	0.0179	0.0007	0.0007	0.0003	0.0011	0.0182	0.0006	0.0006	0.0152	0.0140	2.405e-05	0	0.0002	0.0006	0.0002	0	0.0034	0.0002	0	0.0182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	6997.77	34	chr14	76500745	.	G	A	6997.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.36;DP=925;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=0.582;SOR=0.702	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1832,0,2223	17	1	1	0
chr14	77320725	77320728	TGTC	-	UTR5	POMT2	NM_013382:c.-44_-47delGACA	.	.	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, Autosomal recessive	15	1488	19	0	0	19	0.00634391	.	.	.	172253	Limb-girdle_muscular_dystrophy,_recessive|Congenital_muscular_dystrophy	MedGen:CN239352|Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0184	0.00419329	0.0152	0.0049	0.0081	0	0.0101	0.0239	0.0204	0.0025	0.0027663	72	26028	rs368351148	0.0231	0.0228	0.0236	0.0226	0.0273	0.0228	0.0228	0.0270	0.0269	0.0037	0.0097	0.0222	0.0002	0.0087	0.0172	0.0273	0.0183	0.0024	0.0156	0.0156	0.0167	0.0144	0.0255	0.0151	0.0149	0.0245	0.0241	0.0051	0.0132	0.0114	0.0202	0.0006	0.0101	0.0411	0.0255	0.0166	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	349.29	33	chr14	77320724	.	TTGTC	T	349.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=684;ExcessHet=0;FS=1.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.231;SOR=1.179	GT:AD:DP:GQ:PL	0/1:33,11:44:99:363,0,1352	18	0	1	0
chr15	34252364	34252364	C	T	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon8:c.G1094A:p.R365H,SLC12A6:NM_005135:exon9:c.G986A:p.R329H,SLC12A6:NM_133647:exon9:c.G1139A:p.R380H,SLC12A6:NM_001042494:exon10:c.G962A:p.R321H,SLC12A6:NM_001042495:exon10:c.G962A:p.R321H,SLC12A6:NM_001042496:exon10:c.G1112A:p.R371H,SLC12A6:NM_001365088:exon10:c.G1139A:p.R380H	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	688397	not_provided|SLC12A6-related_disorder|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy	MedGen:C3661900|.|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.533	0.0474024242174	.	0.000399361	2.476e-05	0	0	0.0002	0	0	0.0011	0	5.82e-05	9	154602	rs375887656	3.363e-05	4.105e-05	3.553e-05	3.171e-05	0.0024	2.574e-05	2.319e-05	0.0015	0.0012	0	0	0	0.0003	0	0.0024	6.32e-06	0.0003	0	0.0002	0.0002	0.0003	2.709e-05	0.0013	0.0001	8.774e-05	0.0008	0.0007	0	0	0.0013	0	0.0006	0	0	0	0	0.0002	0.165	0.25154	T	0.124	0.36901	T	0.653	0.47514	P	0.147	0.45295	B	0.000841	0.41440	D	0.148153	1	0.81001	D	1.985	0.53793	M	-0.39	0.69158	T	-4.28	0.79998	D	0.713	0.72299	-0.4589	0.70104	T	0.333	0.70059	T	10	0.45761052	0.59087	T	0.047402	0.62906	D	0.533	0.80367	0.797	0.91729	0.650071068344	0.64716	0.9147079550556401	0.91445	1.11383339439	0.78121	0.739474654198	0.72895	T	0.715148	0.91905	D	0.0375478	0.56723	T	0.125026	0.78566	D	0.462193578481674	0.31245	T	0.990788	0.97468	D	0.1921401	0.40870	0.15295672	0.35963	0.1921401	0.40870	0.15295672	0.35963	-8.286	0.63264	D	.	.	0.647	0.70791	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.633285	0.73682	26.0	0.99916187366304976	0.98449	0.99797	0.99532	D	AEFDBI	0.919566	0.89027	D	0.547327777432752	0.69918	5.426014	0.621697969729135	0.76517	6.50588	0.999999999999979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.905000	0.86479	7.684000	0.65448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.428	0.90560	818	0.41518	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.003788	0.02632	616.33	35	chr15	34252364	.	C	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.587;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.04;SOR=0.796	GT:AD:DP:GQ:PL	0/1:47,27:74:99:630,0,1177	18	0	1	0
chr15	45097326	45097326	C	T	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon29:c.G3759A:p.P1253P,DUOX2:NM_014080:exon29:c.G3759A:p.P1253P	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1402	105	15	0	135	0.045934	.	.	.	339040	Thyroid_dyshormonogenesis_6|DUOX2-related_disorder|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0039	0.00239617	0.0056	0.0005	0.0021	0.0001	0	0.0061	0.0143	0.0143	0.0049999	773	154602	rs140663764	0.0041	0.0041	0.0035	0.0046	0.0290	0.0040	0.0040	0.0254	0.0240	0.0005	0.0024	0.0354	0	0.0002	0.0290	0.0026	0.0073	0.0160	0.0035	0.0035	0.0031	0.0039	0.0133	0.0032	0.0031	0.0107	0.0097	0.0005	0	0.0056	0.0340	0	0.0002	0.0068	0.0033	0.0071	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.020161	0.000000	0.010870	0.020468	0.000000	0.051724	0.042945	0.011364	0.02632	1922.33	34	chr15	45097326	.	C	T	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=783;ExcessHet=0;FS=3.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.197;SOR=0.586	GT:AD:DP:GQ:PL	0/1:68,77:145:99:1936,0,1513	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	1/1:0,119:119:99:3412,357,0	0	19	0	0
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	16878.2	153	chr15	82538982	.	A	G	16878.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.375;DP=1603;ExcessHet=1.7862;FS=0.523;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.582;SOR=0.751	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2524,264,0	8	2	9	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2041.16	115	chr16	15725134	.	T	TA	2041.16	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.385;DP=2694;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6373;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:86,14:100:17:17,0,1732	11	0	8	0
chr16	15741657	15741657	T	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon22:c.A2665C:p.K889Q,MYH11:NM_022844:exon22:c.A2665C:p.K889Q,MYH11:NM_001040113:exon23:c.A2686C:p.K896Q,MYH11:NM_001040114:exon23:c.A2686C:p.K896Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	340756	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_4	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.587	0.318223942998	.	.	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002135	33	154602	rs762308378	0.0001	0.0001	7.897e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	0.0001	0.0023	4.596e-05	4.593e-05	2.57e-05	6.714e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.005	0.74150	D	0.937	0.52445	P	0.234	0.38393	B	0.000001	0.62929	D	0.054595	1	0.81001	D	3.11	0.87757	M	-0.95	0.75438	T	-3.26	0.65397	D	0.469	0.50508	0.398	0.89066	D	0.547	0.83360	D	10	0.0703738	0.10228	T	0.318224	0.91394	D	0.587	0.83471	0.362	0.36711	0.837114270717	0.83556	0.39162752227168746	0.39077	0.809008634224	0.66657	0.54133617878	0.44634	T	0.762572	0.93580	D	-0.281896	0.10467	T	-0.183559	0.56191	T	0.370356492551083	0.27811	T	0.933007	0.74900	D	0.73820144	0.80189	0.66981095	0.80629	0.70185286	0.78159	0.62288576	0.78027	-12.792	0.89047	D	.	.	0.407	0.62650	A	.;.;.;.	.;.;.;.	5.059114	0.84316	28.3	0.99486424360818182	0.67180	0.98785	0.86822	D	AEFDBI	0.800576	0.72652	D	0.60049223675225	0.73205	5.928438	0.558902833325888	0.72019	5.744303	0.999998461554044	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.95	4.95	0.64894	6.174000	0.71864	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.788	0.62608	343	0.85802	.;.;Myosin tail;Myosin tail	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1851.33	34	chr16	15741657	.	T	G	1851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.488;DP=733;ExcessHet=0;FS=3.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.497;SOR=0.381	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1865,0,1270	18	0	1	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	0/1:14,9:26:99:138,0,279	1	0	18	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|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|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	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	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.2632	15622.2	129	chr16	56511263	.	T	C	15622.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-0.303;DP=1545;ExcessHet=1.8686;FS=0;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.962;SOR=0.678	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1394,0,1861	10	1	8	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	0/1:16,4:20:39:39,0,509	16	0	3	0
chr16	88435973	88435973	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8503C:p.E2835Q	Brittle cornea syndrome 1, Autosomal recessive	0	1485	33	4	0	41	0.0136167	.	.	.	326712	ZNF469-related_disorder|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|not_specified|not_provided	.|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.021	0.381191108686	.	0.00139776	0.0038	0.0007	0.0028	0	0	0.0026	0	0.0058	0.0005757	89	154602	rs200153921	0.0011	0.0010	0.0009	0.0012	0.0227	0.0010	0.0010	0.0195	0.0183	0.0009	0.0011	0.0043	0	0	0.0227	0.0006	0.0021	0.0047	0.0010	0.0010	0.0009	0.0011	0.0052	0.0009	0.0008	0.0036	0.0031	0.0002	0	0.0010	0.0046	0	9.407e-05	0.0272	0.0010	0.0038	0.0052	0.271	0.15984	T	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.76	0.21215	N	0.029	0.00666	-0.9278	0.44458	T	0.010	0.03765	T	9	0.0073034167	0.00166	T	0.381191	0.92975	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10078178713489579	0.10009	.	.	0.251232206821	0.03898	T	0.01889	0.15149	T	-0.655829	0.00067	T	-0.714563	0.05063	T	0.0054582720408137	0.00059	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08560	B	.;.	.;.	0.162934	0.05532	1.993	0.96003666688408718	0.28422	0.01458	0.04877	N	AEFDBI	0.043533	0.06895	N	-1.16904501798776	0.05473	0.2496227	-1.25720120207156	0.05025	0.2384723	0.974507050025547	0.29548	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.9	-5.55	0.02336	-0.080000	0.11303	0.627000	0.20189	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2731:0.4976:0.2293:0.0	6.893	0.23424	.	.	.;.	.	.	.	.	.	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	0.019737	0.000000	0.037313	0.017544	0.083333	0.041667	0.020548	0.012195	0.02632	2050.33	113	chr16	88435973	.	G	C	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=2151;ExcessHet=0;FS=4.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.74;SOR=0.489	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2064,0,2367	18	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	1453.09	136	chr17	3648932	.	G	C	1453.09	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.833;DP=2002;ExcessHet=20.8569;FS=327.302;InbreedingCoeff=-0.6585;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.11;SOR=11.838	GT:AD:DP:GQ:PL	0/1:58,24:82:8:8,0,1016	4	0	15	0
chr17	18130817	18130817	-	GTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	337410	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs1491181087	0.0480	0.0698	0.0458	0.0501	0.0574	0.0476	0.0475	0.0560	0.0554	0.0490	0.0555	0.0850	0.0446	0.0711	0.0508	0.0437	0.0644	0.0574	0.1711	0.1750	0.1760	0.1654	0.1878	0.1689	0.1680	0.1846	0.1832	0.1500	0.1468	0.1764	0.2774	0.0658	0.1265	0.2198	0.1878	0.1694	0.1291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9986.06	19	chr17	18130817	.	A	AGTGT	9986.06	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	1/0:0,5:36:84:388,132,109	14	0	5	0
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	9986.06	19	chr17	18130817	.	A	AGTGTGT	9986.06	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:0,2:36:84:388,119,84	12	0	7	0
chr17	18155154	18155154	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon45:c.G8269A:p.V2757M	Deafness, autosomal recessive 3, Autosomal recessive	0	1482	37	3	0	43	0.0143	.	.	.	176616	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.276	0.258361269117	0.0014	0.00219649	0.0023	0.0004	0.0028	0.0001	0.0005	0.0021	0.0046	0.0058	0.0022186	343	154602	rs140140417	0.0019	0.0019	0.0017	0.0021	0.0147	0.0018	0.0018	0.0122	0.0113	0.0005	0.0024	0.0061	2.519e-05	0.0002	0.0147	0.0016	0.0030	0.0053	0.0016	0.0016	0.0016	0.0015	0.0043	0.0014	0.0014	0.0029	0.0024	0.0004	0	0.0025	0.0046	0.0006	0.0007	0.0136	0.0018	0.0057	0.0043	0.048	0.40068	D	0.134	0.52389	T	0.149	0.27956	B	0.01	0.14941	B	.	.	.	.	0.763895	0.29510	N	1.47	0.36993	L	-2.73	0.90679	D	-2.18	0.49187	N	0.275	0.31140	-0.1236	0.79550	T	0.531	0.82612	D	9	0.0064539015	0.00146	T	0.258361	0.89405	D	0.276	0.59253	.	.	0.600825740518	0.59764	0.4457462142118012	0.44492	.	.	0.419347465038	0.27747	T	0.046696	0.65209	T	-0.342059	0.05246	T	-0.26234	0.48590	T	0.00478396346384637	0.00051	T	0.716728	0.33194	T	0.07735013	0.17550	0.13745384	0.32854	0.06249197	0.13057	0.119086966	0.28744	-6.928	0.53507	T	0.41057589769316	0.50096	0.088	0.11893	B	.;.;.;.;.	.;.;.;.;.	2.035020	0.25866	16.92	0.83213195503592097	0.14603	0.66823	0.33213	D	AEFBI	0.174771	0.30192	N	-0.460585179935102	0.23382	1.255274	-0.505606052839797	0.22000	1.192848	0.996699927236294	0.34934	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	-0.241	0.12399	1.130000	0.31007	1.255000	0.25194	0.676000	0.76740	0.834000	0.30193	0.645000	0.25934	0.690000	0.33838	0.2809:0.0:0.5946:0.1245	6.741	0.22626	163	0.93656	.;.;.;.;.	.	.	.	.	.	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	0.017623	0.045455	0.017663	0.017544	0.000000	0.000000	0.009146	0.011364	0.02632	1591.33	39	chr17	18155154	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.778;SOR=0.726	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1605,0,1987	18	0	1	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|1:105,125:230:99:0|1:21300875_G_T:4830,0,3972:21300875	0	0	19	0
chr17	59064407	59064407	-	A	splicing	TRIM37	NM_001320989:exon10:c.810-2->T;NM_001005207:exon10:c.810-2->T;NM_001353084:exon10:c.810-2->T;NM_001320990:exon11:c.444-2->T;NM_001320988:exon10:c.810-2->T;NM_001320987:exon9:c.708-2->T;NM_001353085:exon8:c.348-2->T;NM_015294:exon10:c.810-2->T;NM_001353082:exon9:c.708-2->T;NM_001353083:exon10:c.75-2->T	.	.	Mulibrey nanism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	339367	Mulibrey_nanism_syndrome|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0510	.	0.0711	0.0843	0.0487	0.0434	0.0477	0.0585	0.0689	0.1192	0.0001537	4	26028	rs1340781912	0.0887	0.1514	0.0883	0.0890	0.1224	0.0882	0.0880	0.1184	0.1168	0.1224	0.0849	0.1144	0.0708	0.0738	0.1174	0.0862	0.0943	0.1141	0.0253	0.0255	0.0249	0.0257	0.0429	0.0246	0.0243	0.0412	0.0405	0.0429	0.0011	0.0198	0.0360	0.0012	0.0312	0.0532	0.0160	0.0260	0.0359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3566.62	108	chr17	59064407	.	T	TA	3566.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.07;DP=1511;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2482;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-0.125;SOR=0.682	GT:AD:DP:GQ:PL	0/1:45,43:94:99:872,0,1032	16	0	3	0
chr17	75843245	75843245	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon3:c.G175A:p.A59T	Hemophagocytic lymphohistiocytosis, familial, 3	1	1336	170	15	0	200	0.0696379	.	.	YES	256450	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	.	0.0161	0.0155751	0.0159	0.0137	0.0179	0.0005	0.0019	0.0182	0.0284	0.0196	0.0154073	2382	154602	rs9904366	0.0141	0.0141	0.0133	0.0148	0.1318	0.0139	0.0139	0.1240	0.1209	0.0168	0.0152	0.0625	5.038e-05	0.0015	0.1318	0.0124	0.0204	0.0206	0.0145	0.0145	0.0150	0.0140	0.0224	0.0140	0.0138	0.0190	0.0177	0.0129	0.0230	0.0164	0.0735	0.0006	0.0008	0.1122	0.0136	0.0294	0.0224	0.041	0.41915	D	0.349	0.18732	T	0.005	0.12996	B	0.002	0.06944	B	0.032492	0.25022	N	0.382752	0.648271	0.30556	N	1.7	0.43825	L	-0.53	0.79072	T	-1.57	0.40468	N	0.079	0.05414	-0.8373	0.52826	T	0.095	0.35924	T	10	0.0044733584	0.00092	T	.	.	.	0.075	0.21907	.	.	.	.	0.27349341922199	0.27262	0.0954696783564	0.10785	0.415600240231	0.27230	T	0.274639	0.64714	T	-0.518305	0.00450	T	-0.50103	0.22241	T	0.00818269309861062	0.00098	T	0.726827	0.37500	T	0.055480037	0.10788	0.1159988	0.28004	0.071086764	0.15709	0.11007209	0.26536	-7.332	0.56422	T	0.4515954250924326	0.53531	0.130	0.34819	B	.;.;.;.;.	.;.;.;.;.	2.890299	0.38275	20.7	0.99666906948177392	0.78330	0.73832	0.36113	D	AEFDBHCIJ	0.230731	0.35406	N	-0.355012734322899	0.27089	1.483451	-0.240752692367709	0.30090	1.691322	0.999999997976585	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.478664	0.07449	1	0.655142	0.61905	0	.	.	4.86	3.89	0.44098	1.873000	0.39195	3.220000	0.36848	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.561000	0.30436	0.0:0.9145:0.0:0.0855	11.340	0.48768	929	0.16858	.;.;.;.;.	ACOX1|CDK3|WBP2	Adrenal_Gland|Cells_Cultured_fibroblasts|Esophagus_Mucosa	.	.	rs9904366	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	0.120829	0.136364	0.139946	0.233918	0.100000	0.129310	0.068323	0.022727	0.1579	15229.4	126	chr17	75843245	.	C	T	15229.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.12;DP=1843;ExcessHet=0.0015;FS=0;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=20.28;ReadPosRankSum=1.03;SOR=0.7	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4509,453,0	15	2	2	0
chr17	77402692	77402692	G	A	exonic	SEPTIN9	.	nonsynonymous SNV	SEPTIN9:NM_001113493:exon2:c.G689A:p.R230Q,SEPTIN9:NM_001113494:exon2:c.G218A:p.R73Q,SEPTIN9:NM_001293695:exon2:c.G653A:p.R218Q,SEPTIN9:NM_006640:exon2:c.G656A:p.R219Q,SEPTIN9:NM_001113491:exon3:c.G710A:p.R237Q,SEPTIN9:NM_001113492:exon3:c.G218A:p.R73Q	.	1	1511	10	0	0	10	0.00329815	.	.	.	340486	not_provided|SEPTIN9-related_disorder|Amyotrophic_neuralgia|Inborn_genetic_diseases|not_specified	MedGen:C3661900|.|MONDO:MONDO:0008076,MedGen:C1834304,OMIM:162100,Orphanet:2901|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.035546133329	0.0008	0.000599042	0.0008	0.0001	0.0007	0	0.0006	0.0013	0.0013	0	0.0008279	128	154602	rs200031107	0.0013	0.0013	0.0013	0.0012	0.0057	0.0012	0.0012	0.0040	0.0035	0.0005	0.0015	0.0016	0	0.0006	0.0057	0.0014	0.0015	3.583e-05	0.0010	0.0010	0.0011	0.0009	0.0016	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0011	0.0014	0	0.0007	0.0102	0.0016	0.0028	0	0.036	0.45393	D	0.306	0.31833	T	0.065	0.38591	B	0.002	0.31939	B	0.000021	0.00348	N	5.881310	0.999997	0.08975	N	1.735	0.44892	L	1.36	0.77078	T	-0.36	0.13035	N	0.16	0.23632	-0.9937	0.31643	T	0.137	0.45299	T	10	0.011054039	0.00243	T	0.035546	0.56416	D	0.048	0.13305	.	.	0.680950470211	0.67823	0.2124524413882051	0.21161	0.120561991571	0.13576	0.350172877312	0.17947	T	0.024915	0.18734	T	-0.388095	0.02767	T	-0.3758	0.36212	T	0.0164548280003138	0.00411	T	0.926107	0.82903	D	0.038886838	0.05266	0.05927286	0.11097	0.042825956	0.06566	0.05120064	0.08192	-3.315	0.15273	T	0.15105061548730467	0.17790	0.074	0.21125	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.408801	0.30961	18.60	0.9880223569944433	0.46477	0.26754	0.23083	N	AEFDBI	0.086241	0.17485	N	-0.45587986399927	0.23541	1.264915	-0.464506808123158	0.23139	1.260319	0.998380603135267	0.36869	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	1.17	0.19998	1.014000	0.29553	2.483000	0.32949	0.618000	0.50648	0.986000	0.36153	0.997000	0.33255	0.724000	0.34901	0.4476:0.0:0.5524:0.0	7.296	0.25564	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008073	0.005051	0.013587	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1269.33	36	chr17	77402692	.	G	A	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.94;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.102;SOR=0.71	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1283,0,1377	18	0	1	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	0/1:96,101:197:99:2669,0,2456	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	1/1:0,136:136:99:4323,407,0	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	0/1:39,56:95:99:1606,0,1032	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	0/1:101,95:196:99:2294,0,2450	7	5	7	0
chr19	11252958	11252958	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon3:c.G133A:p.V45I,DOCK6:NM_020812:exon3:c.G133A:p.V45I	Adams-Oliver syndrome 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	0.7657	0.554	.	727891	Bone_Paget_disease|DOCK6-related_disorder|not_provided|Intellectual_disability	Human_Phenotype_Ontology:HP:0034159,MONDO:MONDO:0005382,MedGen:C0029401,OMIM:PS167250,Orphanet:280110|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	.	0.0020	0.00119808	0.0025	0.0002	0.0017	0	0.0003	0.0029	0	0.0045	0.0016041	248	154602	rs183060698	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0026	0.0025	0.0002	0.0010	0.0051	2.548e-05	0.0004	0.0002	0.0022	0.0020	0.0029	0.0014	0.0014	0.0016	0.0013	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0004	0.0052	0	0.0006	0.0034	0.0023	0.0019	0.0021	0.373	0.11442	T	0.146	0.32891	T	0.132	0.27209	B	0.05	0.25278	B	0.286628	0.14845	N	0.581626	0.999446	0.47080	D	0.65	0.16133	N	2.61	0.13095	T	-0.33	0.12472	N	0.178	0.19190	-1.0224	0.22932	T	0.019	0.07986	T	10	0.007945746	0.00180	T	0.007689	0.20404	T	0.051	0.14325	.	.	0.252162846088	0.24830	0.13591354136941314	0.13515	0.160741876183	0.18148	0.462928891182	0.33712	T	0.007154	0.06566	T	-0.641458	0.00082	T	-0.697865	0.05943	T	0.0112675946637516	0.00166	T	0.857914	0.54791	D	0.07884022	0.17977	0.06831415	0.14250	0.06645308	0.14300	0.057968765	0.10632	-4.432	0.29988	T	.	.	0.098	0.16187	B	.	.	4.048498	0.59987	24.2	0.9942266448115552	0.63838	0.91579	0.53824	D	AEFBI	0.278391	0.39269	N	-0.23901401373882	0.31545	1.769838	-0.0704514433709557	0.36618	2.133321	0.99999505616032	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	4.65	4.65	0.57626	2.439000	0.44504	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	16.291	0.82583	830	0.39242	.	.	.	.	.	.	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	0.001009	0.000000	0.002717	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	678.33	34	chr19	11252958	.	C	T	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.658;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.295;SOR=0.604	GT:AD:DP:GQ:PL	0/1:19,29:48:99:692,0,443	18	0	1	0
chr19	38516078	38516078	G	A	intronic	RYR1	.	.	.	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	2	1514	6	0	0	6	0.00197759	0.0002	0.01	.	257031	Malignant_hyperthermia,_susceptibility_to,_1|RYR1-related_disorder|Congenital_multicore_myopathy_with_external_ophthalmoplegia|See_cases|not_specified|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|Central_core_myopathy|not_provided	MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN239331|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|.|MedGen:CN169374|MedGen:C2674259|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.00219649	0.0024	0.0010	0.0028	0	0	0.0023	0	0.0030	0.0007309	113	154602	rs149569999	0.0016	0.0016	0.0015	0.0017	0.0036	0.0016	0.0015	0.0024	0.0023	0.0016	0.0015	0.0046	0	2.062e-05	0.0036	0.0016	0.0016	0.0027	0.0018	0.0018	0.0017	0.0019	0.0037	0.0017	0.0016	0.0024	0.0020	0.0016	0	0.0029	0.0058	0	0	0.0034	0.0019	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	548.33	38	chr19	38516078	.	G	A	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.305;DP=687;ExcessHet=0;FS=1.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.485;SOR=0.874	GT:AD:DP:GQ:PL	0/1:25,23:48:99:562,0,607	18	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.2368	17634.8	33	chr19	55154042	.	C	T	17634.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.546;DP=1491;ExcessHet=1.1637;FS=1.116;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.644;SOR=0.594	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5597,501,0	11	1	7	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	1/1:0,53:53:99:1723,159,0	8	4	7	0
chr20	2655369	2655369	A	G	exonic	NOP56	.	nonsynonymous SNV	NOP56:NM_006392:exon6:c.A614G:p.N205S	Spinocerebellar ataxia 36, Autosomal dominant	0	1500	22	0	0	22	0.00727995	.	.	.	2827047	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0114594390754	0.0002	0.000998403	0.0009	0	0.0002	0	0	0.0005	0	0.0047	0.000815	126	154602	rs138832466	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0044	0.0001	0.0002	0.0056	5.038e-05	0	0.0042	7.914e-05	0.0010	0.0049	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0004	0.0043	0.0037	2.407e-05	0	0.0002	0.0040	0.0002	0	0.0068	0.0003	0.0009	0.0060	0.614	0.05404	T	1.0	0.04686	T	0.015	0.17086	B	0.048	0.24975	B	0.017468	0.27716	N	0.410849	0.999673	0.20721	N	0.315	0.10303	N	-1.56	0.81815	D	0.0	0.07008	N	0.089	0.06720	-0.9382	0.42900	T	0.252	0.62131	T	10	0.010513991	0.00234	T	0.011459	0.29107	T	0.130	0.35528	.	.	0.258436476835	0.25460	0.18245670462505426	0.18164	0.197761165216	0.22142	0.428429752588	0.28994	T	0.056473	0.30297	T	-0.486148	0.00682	T	-0.470553	0.25457	T	0.0145655771288582	0.00298	T	0.931607	0.74555	D	0.037675794	0.04875	0.0235069	0.00364	0.035200875	0.04098	0.024641378	0.00487	-1.086	0.01099	T	.	.	0.044	0.02927	B	.;.	.;.	1.857764	0.23599	16.08	0.7672857164349618	0.11585	0.73387	0.35898	D	AEFDBHCI	0.251288	0.37118	N	-0.498447047202411	0.22132	1.179593	-0.316511520986136	0.27565	1.530454	0.999999163192992	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.69	2.27	0.27501	1.913000	0.39587	2.658000	0.33861	0.756000	0.94297	0.792000	0.29619	0.909000	0.28100	0.945000	0.48827	0.6084:0.163:0.2286:0.0	4.508	0.11304	764	0.49969	Nop domain|NOSIC;Nop domain|NOSIC	.	.	.	.	.	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	0.002717	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2108.33	37	chr20	2655369	.	A	G	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=811;ExcessHet=0;FS=7.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.267;SOR=0.784	GT:AD:DP:GQ:PL	0/1:71,77:148:99:2122,0,1836	18	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V,SLC4A11:NM_001174089:exon8:c.C893T:p.A298V,SLC4A11:NM_001174090:exon8:c.C1022T:p.A341V,SLC4A11:NM_001363745:exon8:c.C893T:p.A298V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	350834	Corneal_dystrophy|not_specified|not_provided|Corneal_dystrophy-perceptive_deafness_syndrome	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05263	4521.83	220	chr20	3231385	.	G	A	4521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.579;DP=1079;ExcessHet=0.119;FS=5.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.174;SOR=0.699	GT:AD:DP:GQ:PL	0/1:69,87:156:99:2184,0,1537	17	0	2	0
chr21	44293832	44293832	C	T	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon11:c.C1322T:p.T441M	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	1	1506	13	2	0	17	0.00561241	.	.	.	44325	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.448799035718	0.0012	0.000599042	0.0013	0.0003	0.0004	0.0001	0.0003	0.0016	0.0059	0.0024	0.0012031	186	154602	rs72650677	0.0017	0.0016	0.0016	0.0017	0.0033	0.0016	0.0016	0.0023	0.0022	0.0003	0.0007	0.0034	0	0.0002	0.0033	0.0017	0.0022	0.0026	0.0010	0.0010	0.0010	0.0011	0.0021	0.0009	0.0008	0.0013	0.0013	0.0004	0	0.0003	0.0029	0.0002	0	0	0.0016	0.0024	0.0021	0.078	0.33923	T	0.085	0.41074	T	0.974	0.57829	D	0.244	0.38795	B	0.057582	0.02099	N	2.129690	1	0.08975	N	1.24	0.30952	L	-2.29	0.87591	D	-1.79	0.42191	N	0.731	0.73195	-0.4053	0.71860	T	0.573	0.84554	D	10	0.116511256	0.21980	T	0.448799	0.94303	D	0.568	0.82403	.	.	0.972967316669	0.97267	0.31284631225330395	0.31197	0.252325852844	0.27803	0.81677043438	0.84532	D	0.434379	0.78148	T	-0.234179	0.16101	T	-0.113774	0.62309	T	0.0125261264536654	0.00207	T	0.551245	0.19007	T	0.038074777	0.05002	0.050381333	0.07897	0.044162896	0.07010	0.055548817	0.09764	-6.959	0.53734	T	.	.	0.095	0.14706	B	.	.	1.585793	0.20285	14.68	0.85568066308072865	0.15974	0.03957	0.09362	N	AEFDBI	0.092281	0.18685	N	-0.452088636365121	0.23668	1.272677	-0.650087452300313	0.18214	0.9720385	0.999943444260049	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.88	0.633	0.16883	-0.620000	0.05661	0.402000	0.18011	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.399:0.4058:0.1952:0.0	5.437	0.15786	929	0.16858	Zinc finger, PHD-type, conserved site|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004087	0.002959	0.000000	0.008621	0.009146	0.000000	0.02632	636.33	34	chr21	44293832	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.825;SOR=0.723	GT:AD:DP:GQ:PL	0/1:49,27:76:99:650,0,1201	18	0	1	0
chr22	38126374	38126374	C	T	exonic	PLA2G6	.	nonsynonymous SNV	PLA2G6:NM_001004426:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001199562:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349865:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349866:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349868:exon9:c.G746A:p.R249Q,PLA2G6:NM_001349864:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349869:exon10:c.G728A:p.R243Q,PLA2G6:NM_003560:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349867:exon11:c.G890A:p.R297Q	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	413616	not_provided|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0471182130819	0.0004	.	0.0002	0.0003	0	0	0	0.0004	0	0	0.0002329	36	154602	rs139184008	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0016	2.519e-05	1.881e-05	0.0002	0.0004	0.0003	0	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.657e-05	0	0	0.0020	0	0	0	0.0004	0.0010	0	0.253	0.28026	T	0.364	0.32783	T	0.994	0.73220	D	0.787	0.76916	P	0.000958	0.40932	D	0.268963	0.990258	0.46701	D	1.635	0.41844	L	-0.02	0.62918	T	-1.06	0.31778	N	0.608	0.63204	-0.7337	0.58776	T	0.264	0.63490	T	10	0.35130855	0.51983	T	0.047118	0.62773	D	0.258	0.56959	.	.	0.829008885576	0.82739	0.3869740418479153	0.38612	0.308083265394	0.33115	0.385754734278	0.23070	T	0.135549	0.46742	T	-0.204773	0.20121	T	-0.213845	0.53327	T	0.0734766447353229	0.09130	T	0.913509	0.69206	D	0.1078109	0.25493	0.06211176	0.12101	0.1078109	0.25493	0.06211176	0.12100	-6.26	0.48405	T	0.2494021049023694	0.33764	0.093	0.13876	B	.;.;.	.;.;.	4.476773	0.69809	25.4	0.99894829766801296	0.96819	0.76964	0.37792	D	AEFBI	0.107051	0.21341	N	0.229078871002549	0.52614	3.434358	0.21365506149261	0.50604	3.250754	0.999921227522668	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	3.696000	0.54489	7.331000	0.58204	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	13.528	0.61063	364	0.84707	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1456.33	34	chr22	38126374	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=765;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.28;SOR=0.987	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1470,0,1602	18	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.5526	42702.2	207	chr22	43946236	.	A	G	42702.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.131;DP=2664;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.233;SOR=0.682	GT:AD:DP:GQ:PL	0/1:74,79:153:99:1882,0,1924	3	5	11	0
chr22	50579775	50579775	T	C	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon9:c.A983G:p.Q328R	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	134179	not_provided|Megaconial_type_congenital_muscular_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.00535585406914	0.0046	0.00199681	0.0041	0.0006	0.0030	0	0.0005	0.0051	0.0088	0.0061	0.0039974	618	154602	rs141381896	0.0049	0.0049	0.0047	0.0050	0.0088	0.0048	0.0047	0.0069	0.0062	0.0010	0.0031	0.0026	7.557e-05	0.0014	0.0088	0.0053	0.0054	0.0062	0.0033	0.0034	0.0036	0.0031	0.0066	0.0031	0.0030	0.0049	0.0047	0.0008	0	0.0025	0.0026	0.0002	0.0012	0.0204	0.0054	0.0052	0.0066	0.526	0.07116	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.393601	0.04492	N	1.372900	1	0.08975	N	1.3	0.32576	L	0.43	0.56772	T	-0.62	0.18248	N	0.139	0.13769	-1.0399	0.17343	T	0.071	0.28806	T	10	0.0036141276	0.00066	T	0.005356	0.13710	T	0.042	0.11227	.	.	0.293147016451	0.28931	0.21814341777740848	0.21730	.	.	0.189679294825	0.00219	T	0.100072	0.40551	T	-0.63138	0.00094	T	-0.676959	0.07171	T	0.000577618257265074	0.00005	T	0.113289	0.00862	T	0.09625146	0.22669	0.10601321	0.25496	0.13090196	0.30530	0.094691224	0.22425	-5.268	0.39625	T	.	.	0.060	0.00919	B	.	.	0.435510	0.08059	4.781	0.69638809155130055	0.09037	0.10516	0.16001	N	AEFDBI	0.137658	0.25871	N	-1.16186174551854	0.05588	0.2551048	-1.15432138866421	0.06691	0.3229024	0.999999684092136	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	-3.32	0.04663	-0.178000	0.09775	-1.307000	0.05758	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.1536:0.5007:0.3456	8.625	0.33045	592	0.68746	.	.	.	.	.	.	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	0.017098	0.020202	0.013587	0.010490	0.050000	0.017241	0.030488	0.011364	0.05263	2925.83	40	chr22	50579775	.	T	C	2925.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.009;DP=954;ExcessHet=0.119;FS=4.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.204;SOR=0.949	GT:AD:DP:GQ:PL	0/1:75,58:133:99:1516,0,2056	17	0	2	0
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	0/1:55,6:69:15:15,0,1269	9	0	10	0